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
TNFRSF14	8764	broad.mit.edu	37	1	2489866	2489866	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-A486-01A-11D-A24D-08	TCGA-CD-A486-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77af2c45-a9b7-4405-a8b7-74145ce9eab8	d81273ea-476b-49af-b15e-12243b90f4ea	g.chr1:2489866A>G	uc001ajr.2	+	3	562	c.263A>G	c.(262-264)AAT>AGT	p.N88S	TNFRSF14_uc010nzc.1_Missense_Mutation_p.N88S|TNFRSF14_uc009vlf.1_Missense_Mutation_p.N88S|TNFRSF14_uc001ajt.1_5'UTR|TNFRSF14_uc001ajs.2_Missense_Mutation_p.N88S|LOC115110_uc010nzb.1_5'Flank	NM_003820	NP_003811	Q92956	TNR14_HUMAN	tumor necrosis factor receptor superfamily,	88	TNFR-Cys 2.|Extracellular (Potential).				immune response|interspecies interaction between organisms|T cell costimulation		tumor necrosis factor receptor activity			kidney(1)	1	all_cancers(77;0.000158)|all_epithelial(69;8.01e-05)|all_lung(157;0.0212)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;3.18e-20)|all_lung(118;1.67e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;1.1e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.02e-23)|GBM - Glioblastoma multiforme(42;1.11e-08)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000326)|BRCA - Breast invasive adenocarcinoma(365;0.00435)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.199)		GCCCACCTCAATGGCCTAAGC	0.637			Mis|N|F		follicular lymphoma							
VPS13D	55187	broad.mit.edu	37	1	12336133	12336133	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CD-A486-01A-11D-A24D-08	TCGA-CD-A486-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77af2c45-a9b7-4405-a8b7-74145ce9eab8	d81273ea-476b-49af-b15e-12243b90f4ea	g.chr1:12336133C>T	uc001atv.2	+	19	2629	c.2488C>T	c.(2488-2490)CGA>TGA	p.R830*	VPS13D_uc001atw.2_Nonsense_Mutation_p.R830*|VPS13D_uc001atx.2_Nonsense_Mutation_p.R18*	NM_015378	NP_056193	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13D isoform 1	830					protein localization					ovary(4)|pancreas(1)	5	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		CATGGTTGGACGAGTGAAAGA	0.438											OREG0013110	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
MUTYH	4595	broad.mit.edu	37	1	45798155	45798155	+	Silent	SNP	G	G	A			TCGA-CD-A486-01A-11D-A24D-08	TCGA-CD-A486-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77af2c45-a9b7-4405-a8b7-74145ce9eab8	d81273ea-476b-49af-b15e-12243b90f4ea	g.chr1:45798155G>A	uc001cnm.2	-	9	903	c.687C>T	c.(685-687)ACC>ACT	p.T229T	MUTYH_uc009vxn.2_Silent_p.T54T|MUTYH_uc001cnf.2_Silent_p.T204T|MUTYH_uc009vxo.2_Silent_p.T204T|MUTYH_uc001cng.2_Silent_p.T215T|MUTYH_uc001cnj.2_Silent_p.T112T|MUTYH_uc001cni.2_Silent_p.T204T|MUTYH_uc001cnh.2_Silent_p.T205T|MUTYH_uc001cno.2_Silent_p.T112T|MUTYH_uc001cnk.2_Silent_p.T89T|MUTYH_uc010oll.1_Intron|MUTYH_uc001cnl.2_Silent_p.T218T|MUTYH_uc009vxp.2_Silent_p.T232T|MUTYH_uc001cnn.2_Silent_p.T219T	NM_012222	NP_036354	Q9UIF7	MUTYH_HUMAN	mutY homolog isoform 1	229					depurination|mismatch repair	nucleoplasm	4 iron, 4 sulfur cluster binding|DNA N-glycosylase activity|endonuclease activity|metal ion binding|MutSalpha complex binding				0	Acute lymphoblastic leukemia(166;0.155)					CCACCACACCGGTTGCCTGGC	0.622			Mis			colorectal		BER_DNA_glycosylases	MUTYH-associated_polyposis			
GTF2B	2959	broad.mit.edu	37	1	89323104	89323104	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A486-01A-11D-A24D-08	TCGA-CD-A486-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77af2c45-a9b7-4405-a8b7-74145ce9eab8	d81273ea-476b-49af-b15e-12243b90f4ea	g.chr1:89323104G>A	uc001dmo.3	-	6	721	c.602C>T	c.(601-603)GCG>GTG	p.A201V		NM_001514	NP_001505	Q00403	TF2B_HUMAN	general transcription factor IIB	201					interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	nucleoplasm	thyroid hormone receptor binding|translation initiation factor activity|zinc ion binding			large_intestine(1)|ovary(1)	2		Lung NSC(277;0.123)		all cancers(265;0.0131)|Epithelial(280;0.0255)		GGTTTCTAGCGCTTTCAAAAT	0.348												
FLG	2312	broad.mit.edu	37	1	152280650	152280650	+	Missense_Mutation	SNP	G	G	C			TCGA-CD-A486-01A-11D-A24D-08	TCGA-CD-A486-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77af2c45-a9b7-4405-a8b7-74145ce9eab8	d81273ea-476b-49af-b15e-12243b90f4ea	g.chr1:152280650G>C	uc001ezu.1	-	3	6748	c.6712C>G	c.(6712-6714)CCC>GCC	p.P2238A		NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	2238	Ser-rich.|Filaggrin 13.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GATCCCCGGGGCCTGCTTGTC	0.582									Ichthyosis			
CELF2	10659	broad.mit.edu	37	10	11312665	11312665	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-A486-01A-11D-A24D-08	TCGA-CD-A486-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77af2c45-a9b7-4405-a8b7-74145ce9eab8	d81273ea-476b-49af-b15e-12243b90f4ea	g.chr10:11312665A>G	uc001iki.3	+	7	726	c.634A>G	c.(634-636)ACT>GCT	p.T212A	CELF2_uc010qbi.1_5'UTR|CELF2_uc010qbj.1_Missense_Mutation_p.T212A|CELF2_uc001ikk.2_Missense_Mutation_p.T219A|CELF2_uc001ikl.3_Missense_Mutation_p.T219A|CELF2_uc010qbk.1_RNA|CELF2_uc010qbl.1_Missense_Mutation_p.T188A|CELF2_uc010qbm.1_5'UTR|CELF2_uc001iko.3_Missense_Mutation_p.T188A|CELF2_uc001ikp.3_Missense_Mutation_p.T188A|CELF2_uc010qbn.1_Missense_Mutation_p.T196A|CELF2_uc010qbo.1_Missense_Mutation_p.T101A|CELF2_uc010qbp.1_5'UTR	NM_001025077	NP_001020248	O95319	CELF2_HUMAN	CUG triplet repeat, RNA binding protein 2	212	Necessary for RNA-binding, TNNT2 exon 5 and NMDA R1 exon 21 inclusion.|RRM 2.				mRNA processing|regulation of heart contraction	cytoplasm|nucleus	nucleotide binding|protein binding|RNA binding				0						GTTTGCTGACACTCAGAAGGA	0.592											OREG0020007	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
CUBN	8029	broad.mit.edu	37	10	17024557	17024557	+	Missense_Mutation	SNP	G	G	A	rs146824506		TCGA-CD-A486-01A-11D-A24D-08	TCGA-CD-A486-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77af2c45-a9b7-4405-a8b7-74145ce9eab8	d81273ea-476b-49af-b15e-12243b90f4ea	g.chr10:17024557G>A	uc001ioo.2	-	31	4673	c.4621C>T	c.(4621-4623)CGG>TGG	p.R1541W		NM_001081	NP_001072	O60494	CUBN_HUMAN	cubilin precursor	1541	CUB 10.				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)	CTGTCAACCCGAATGACCCAA	0.428												
RHOBTB1	9886	broad.mit.edu	37	10	62631320	62631320	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A486-01A-11D-A24D-08	TCGA-CD-A486-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77af2c45-a9b7-4405-a8b7-74145ce9eab8	d81273ea-476b-49af-b15e-12243b90f4ea	g.chr10:62631320C>T	uc001jli.2	-	12	2449	c.2011G>A	c.(2011-2013)GAG>AAG	p.E671K	RHOBTB1_uc001jlh.2_Missense_Mutation_p.E671K|RHOBTB1_uc001jlj.2_Missense_Mutation_p.E671K|RHOBTB1_uc001jlk.2_Missense_Mutation_p.E671K|RHOBTB1_uc009xpe.1_Missense_Mutation_p.E609K|RHOBTB1_uc009xpd.2_3'UTR|RHOBTB1_uc001jll.2_Missense_Mutation_p.E421K	NM_014836	NP_055651	O94844	RHBT1_HUMAN	Rho-related BTB domain containing 1	671					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding			upper_aerodigestive_tract(1)	1	Prostate(12;0.0112)					TCTTCCTTCTCTCGTTCCCTT	0.488												
MARCH5	54708	broad.mit.edu	37	10	94100524	94100524	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CD-A486-01A-11D-A24D-08	TCGA-CD-A486-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77af2c45-a9b7-4405-a8b7-74145ce9eab8	d81273ea-476b-49af-b15e-12243b90f4ea	g.chr10:94100524G>A	uc001khx.1	+	3	665	c.333G>A	c.(331-333)TGG>TGA	p.W111*	MARCH5_uc010qno.1_Nonsense_Mutation_p.W7*	NM_017824	NP_060294	Q9NX47	MARH5_HUMAN	membrane-associated ring finger (C3HC4) 5	111	Helical; (Potential).				cell aging|protein autoubiquitination|protein localization in mitochondrion|protein polyubiquitination|regulation of mitochondrial fission	endoplasmic reticulum membrane|integral to membrane|mitochondrial outer membrane	GTPase binding|ubiquitin-protein ligase activity|zinc ion binding			skin(1)	1						CTATCTATTGGACAGCTGTGA	0.393												
OR52B6	340980	broad.mit.edu	37	11	5602826	5602826	+	Silent	SNP	C	C	T			TCGA-CD-A486-01A-11D-A24D-08	TCGA-CD-A486-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77af2c45-a9b7-4405-a8b7-74145ce9eab8	d81273ea-476b-49af-b15e-12243b90f4ea	g.chr11:5602826C>T	uc010qzi.1	+	1	720	c.720C>T	c.(718-720)ATC>ATT	p.I240I	HBG2_uc001mak.1_Intron	NM_001005162	NP_001005162	Q8NGF0	O52B6_HUMAN	olfactory receptor, family 52, subfamily B,	240	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;3.56e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ACATCCACATCCTCCAAGCAG	0.502												
FAR1	84188	broad.mit.edu	37	11	13743296	13743296	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A486-01A-11D-A24D-08	TCGA-CD-A486-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77af2c45-a9b7-4405-a8b7-74145ce9eab8	d81273ea-476b-49af-b15e-12243b90f4ea	g.chr11:13743296C>T	uc001mld.2	+	10	1302	c.1147C>T	c.(1147-1149)CGT>TGT	p.R383C		NM_032228	NP_115604	Q8WVX9	FACR1_HUMAN	fatty acyl CoA reductase 1	383					ether lipid biosynthetic process	integral to membrane|peroxisomal matrix|peroxisomal membrane	protein binding			ovary(1)|skin(1)	2						AACAATAACTCGTCTTCACAA	0.338												
SAAL1	113174	broad.mit.edu	37	11	18124855	18124855	+	Silent	SNP	A	A	G			TCGA-CD-A486-01A-11D-A24D-08	TCGA-CD-A486-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77af2c45-a9b7-4405-a8b7-74145ce9eab8	d81273ea-476b-49af-b15e-12243b90f4ea	g.chr11:18124855A>G	uc001mnq.2	-	2	224	c.174T>C	c.(172-174)GAT>GAC	p.D58D	SAAL1_uc001mnr.2_Silent_p.D58D|SAAL1_uc001mns.2_RNA|SAAL1_uc009yhf.2_Silent_p.D58D	NM_138421	NP_612430	Q96ER3	SAAL1_HUMAN	serum amyloid A-like 1	58					acute-phase response	extracellular region	binding				0						GCTGCTCCTCATCATCTGAGC	0.398												
MRGPRX3	117195	broad.mit.edu	37	11	18159092	18159092	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A486-01A-11D-A24D-08	TCGA-CD-A486-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77af2c45-a9b7-4405-a8b7-74145ce9eab8	d81273ea-476b-49af-b15e-12243b90f4ea	g.chr11:18159092G>A	uc001mnu.2	+	3	704	c.343G>A	c.(343-345)GCC>ACC	p.A115T		NM_054031	NP_473372	Q96LB0	MRGX3_HUMAN	MAS-related GPR, member X3	115	Helical; Name=3; (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(1)|pancreas(1)	2						CATGCTGAGCGCCATCAGCAC	0.562												
FBXO3	26273	broad.mit.edu	37	11	33772191	33772191	+	Nonsense_Mutation	SNP	C	C	A	rs149012624		TCGA-CD-A486-01A-11D-A24D-08	TCGA-CD-A486-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77af2c45-a9b7-4405-a8b7-74145ce9eab8	d81273ea-476b-49af-b15e-12243b90f4ea	g.chr11:33772191C>A	uc001muz.2	-	8	854	c.826G>T	c.(826-828)GAA>TAA	p.E276*	FBXO3_uc010rej.1_5'UTR|FBXO3_uc001muy.2_Nonsense_Mutation_p.E163*|FBXO3_uc009ykb.2_RNA|FBXO3_uc001mva.1_Nonsense_Mutation_p.E276*|FBXO3_uc001mvb.1_Nonsense_Mutation_p.E271*|FBXO3_uc010rek.1_RNA	NM_012175	NP_036307	Q9UK99	FBX3_HUMAN	F-box only protein 3 isoform 1	276					proteolysis	nucleus	ubiquitin-protein ligase activity			pancreas(1)	1		Lung NSC(402;0.0804)		BRCA - Breast invasive adenocarcinoma(625;0.00315)|Lung(977;0.00488)|LUSC - Lung squamous cell carcinoma(625;0.008)		GCTACACATTCTGGATCGTGA	0.353												
OR4X1	390113	broad.mit.edu	37	11	48285725	48285725	+	Missense_Mutation	SNP	T	T	A			TCGA-CD-A486-01A-11D-A24D-08	TCGA-CD-A486-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77af2c45-a9b7-4405-a8b7-74145ce9eab8	d81273ea-476b-49af-b15e-12243b90f4ea	g.chr11:48285725T>A	uc010rht.1	+	1	313	c.313T>A	c.(313-315)TTT>ATT	p.F105I		NM_001004726	NP_001004726	Q8NH49	OR4X1_HUMAN	olfactory receptor, family 4, subfamily X,	105	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|pancreas(1)|skin(1)	3						CCTCCATTTCTTTGGTGGCAC	0.498												
SSH3	54961	broad.mit.edu	37	11	67075666	67075666	+	Missense_Mutation	SNP	C	C	T	rs143770446		TCGA-CD-A486-01A-11D-A24D-08	TCGA-CD-A486-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77af2c45-a9b7-4405-a8b7-74145ce9eab8	d81273ea-476b-49af-b15e-12243b90f4ea	g.chr11:67075666C>T	uc001okj.2	+	9	1085	c.907C>T	c.(907-909)CGC>TGC	p.R303C	SSH3_uc001okk.2_RNA|SSH3_uc001okl.2_Missense_Mutation_p.R157C	NM_017857	NP_060327	Q8TE77	SSH3_HUMAN	slingshot homolog 3	303					regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton|nucleus	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			ovary(1)	1			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)			TCTGGAGCTGCGCCTGGGGCT	0.662												
OR8B4	283162	broad.mit.edu	37	11	124294393	124294393	+	Silent	SNP	G	G	A			TCGA-CD-A486-01A-11D-A24D-08	TCGA-CD-A486-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77af2c45-a9b7-4405-a8b7-74145ce9eab8	d81273ea-476b-49af-b15e-12243b90f4ea	g.chr11:124294393G>A	uc010sak.1	-	1	375	c.375C>T	c.(373-375)ATC>ATT	p.I125I		NM_001005196	NP_001005196	Q96RC9	OR8B4_HUMAN	olfactory receptor, family 8, subfamily B,	125	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		GGGGGTTGCAGATGGCCACAT	0.483												
MRPL51	51258	broad.mit.edu	37	12	6602054	6602054	+	Missense_Mutation	SNP	C	C	A			TCGA-CD-A486-01A-11D-A24D-08	TCGA-CD-A486-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77af2c45-a9b7-4405-a8b7-74145ce9eab8	d81273ea-476b-49af-b15e-12243b90f4ea	g.chr12:6602054C>A	uc001qom.2	-	2	333	c.164G>T	c.(163-165)GGA>GTA	p.G55V	MRPL51_uc001qon.1_RNA|NCAPD2_uc009zen.1_5'Flank|NCAPD2_uc001qoo.2_5'Flank|NCAPD2_uc010sfd.1_5'Flank	NM_016497	NP_057581	Q4U2R6	RM51_HUMAN	mitochondrial ribosomal protein L51 precursor	55					translation	mitochondrial large ribosomal subunit	protein binding|structural constituent of ribosome				0						GTCATACACTCCGAACATGGC	0.507												
CD163	9332	broad.mit.edu	37	12	7647955	7647955	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A486-01A-11D-A24D-08	TCGA-CD-A486-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77af2c45-a9b7-4405-a8b7-74145ce9eab8	d81273ea-476b-49af-b15e-12243b90f4ea	g.chr12:7647955C>T	uc001qsz.3	-	6	1270	c.1142G>A	c.(1141-1143)CGC>CAC	p.R381H	CD163_uc001qta.3_Missense_Mutation_p.R381H|CD163_uc009zfw.2_Missense_Mutation_p.R381H	NM_004244	NP_004235	Q86VB7	C163A_HUMAN	CD163 antigen isoform a	381	SRCR 4.|Extracellular (Potential).				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			ovary(6)|pancreas(1)|skin(1)	8						CCCAGCACAGCGGCTGCCTCC	0.493												
PKP2	5318	broad.mit.edu	37	12	32949048	32949048	+	Silent	SNP	G	G	A			TCGA-CD-A486-01A-11D-A24D-08	TCGA-CD-A486-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77af2c45-a9b7-4405-a8b7-74145ce9eab8	d81273ea-476b-49af-b15e-12243b90f4ea	g.chr12:32949048G>A	uc001rlj.3	-	12	2599	c.2484C>T	c.(2482-2484)GGC>GGT	p.G828G	PKP2_uc001rlk.3_Silent_p.G784G|PKP2_uc010skj.1_Silent_p.G781G	NM_004572	NP_004563	Q99959	PKP2_HUMAN	plakophilin 2 isoform 2b	828	ARM 8.				cell-cell adhesion	desmosome|integral to membrane|nucleus	binding			ovary(1)|pancreas(1)	2	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					CTTACGCATCGCCTGCACTAA	0.493												
UTP20	27340	broad.mit.edu	37	12	101776879	101776879	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A486-01A-11D-A24D-08	TCGA-CD-A486-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77af2c45-a9b7-4405-a8b7-74145ce9eab8	d81273ea-476b-49af-b15e-12243b90f4ea	g.chr12:101776879G>A	uc001tia.1	+	59	7873	c.7717G>A	c.(7717-7719)GAT>AAT	p.D2573N		NM_014503	NP_055318	O75691	UTP20_HUMAN	down-regulated in metastasis	2573					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding			ovary(2)|breast(2)	4						TTATTGTGAGGATAAGCAAAG	0.408												
NAA25	80018	broad.mit.edu	37	12	112485554	112485554	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-A486-01A-11D-A24D-08	TCGA-CD-A486-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77af2c45-a9b7-4405-a8b7-74145ce9eab8	d81273ea-476b-49af-b15e-12243b90f4ea	g.chr12:112485554T>C	uc001ttm.2	-	17	1941	c.1921A>G	c.(1921-1923)AGG>GGG	p.R641G	NAA25_uc001ttn.3_RNA|NAA25_uc009zvz.1_Missense_Mutation_p.R613G|NAA25_uc009zwa.1_Missense_Mutation_p.R641G	NM_024953	NP_079229	Q14CX7	NAA25_HUMAN	mitochondrial distribution and morphology 20	641						cytoplasm	protein binding			ovary(1)|breast(1)|pancreas(1)	3						TCTTCTGGCCTAAGGTTCATT	0.328												
GAS6	2621	broad.mit.edu	37	13	114531555	114531555	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A486-01A-11D-A24D-08	TCGA-CD-A486-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77af2c45-a9b7-4405-a8b7-74145ce9eab8	d81273ea-476b-49af-b15e-12243b90f4ea	g.chr13:114531555C>T	uc001vud.2	-	11	1426	c.1273G>A	c.(1273-1275)GGT>AGT	p.G425S	GAS6_uc001vug.2_Missense_Mutation_p.G126S|GAS6_uc001vuf.2_Missense_Mutation_p.G152S	NM_000820	NP_000811	Q14393	GAS6_HUMAN	growth arrest-specific 6 isoform 1 precursor	468	Laminin G-like 1.				cell proliferation|leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|positive regulation of ERK1 and ERK2 cascade|positive regulation of fibroblast proliferation|post-translational protein modification|proteolysis|regulation of growth	endoplasmic reticulum lumen|extracellular space|Golgi lumen|platelet alpha granule lumen	calcium ion binding|receptor agonist activity			central_nervous_system(4)	4	Lung NSC(43;0.00976)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0176)|all_epithelial(44;0.0104)|all_lung(25;0.0249)|Lung NSC(25;0.0908)|Breast(118;0.188)				AAGGGAATACCTCCCACGGTC	0.577												
TEP1	7011	broad.mit.edu	37	14	20849163	20849163	+	Silent	SNP	G	G	A			TCGA-CD-A486-01A-11D-A24D-08	TCGA-CD-A486-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77af2c45-a9b7-4405-a8b7-74145ce9eab8	d81273ea-476b-49af-b15e-12243b90f4ea	g.chr14:20849163G>A	uc001vxe.2	-	33	4729	c.4689C>T	c.(4687-4689)ACC>ACT	p.T1563T	TEP1_uc010ahk.2_Silent_p.T906T|TEP1_uc010tlf.1_RNA|TEP1_uc010tlg.1_Silent_p.T1455T|TEP1_uc010tlh.1_5'UTR	NM_007110	NP_009041	Q99973	TEP1_HUMAN	telomerase-associated protein 1	1563					telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			ovary(5)	5	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		CATGGAGGTTGGTAAGGAACT	0.527												
SYT16	83851	broad.mit.edu	37	14	62463017	62463017	+	Missense_Mutation	SNP	T	T	G			TCGA-CD-A486-01A-11D-A24D-08	TCGA-CD-A486-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77af2c45-a9b7-4405-a8b7-74145ce9eab8	d81273ea-476b-49af-b15e-12243b90f4ea	g.chr14:62463017T>G	uc001xfu.1	+	1	477	c.280T>G	c.(280-282)TGT>GGT	p.C94G	SYT16_uc010tsd.1_Missense_Mutation_p.C94G	NM_031914	NP_114120	Q17RD7	SYT16_HUMAN	synaptotagmin XIV-like	94										central_nervous_system(1)	1				OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118)		TTTCTCATGTTGTAATAGTGA	0.428												
SIPA1L1	26037	broad.mit.edu	37	14	72055914	72055914	+	Missense_Mutation	SNP	G	G	T			TCGA-CD-A486-01A-11D-A24D-08	TCGA-CD-A486-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77af2c45-a9b7-4405-a8b7-74145ce9eab8	d81273ea-476b-49af-b15e-12243b90f4ea	g.chr14:72055914G>T	uc001xms.2	+	2	1673	c.1325G>T	c.(1324-1326)TGT>TTT	p.C442F	SIPA1L1_uc001xmt.2_Missense_Mutation_p.C442F|SIPA1L1_uc001xmu.2_Missense_Mutation_p.C442F|SIPA1L1_uc001xmv.2_Missense_Mutation_p.C442F	NM_015556	NP_056371	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like	442					actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity			ovary(3)|breast(1)	4				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		TTTAGTGGATGTGAAAGTGCC	0.453												
C14orf145	145508	broad.mit.edu	37	14	81382854	81382854	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A486-01A-11D-A24D-08	TCGA-CD-A486-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77af2c45-a9b7-4405-a8b7-74145ce9eab8	d81273ea-476b-49af-b15e-12243b90f4ea	g.chr14:81382854C>T	uc001xux.2	-	2	209	c.38G>A	c.(37-39)TGT>TAT	p.C13Y	C14orf145_uc001xuz.2_Missense_Mutation_p.C13Y|C14orf145_uc001xva.1_Missense_Mutation_p.C13Y|C14orf145_uc010ata.1_Missense_Mutation_p.C13Y	NM_152446	NP_689659	Q6ZU80	CE128_HUMAN	hypothetical protein LOC145508	13						centriole|spindle pole					0				BRCA - Breast invasive adenocarcinoma(234;0.0586)		TCGGTCACGACAGCGGAAGTG	0.423												
RTL1	388015	broad.mit.edu	37	14	101348035	101348035	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A486-01A-11D-A24D-08	TCGA-CD-A486-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77af2c45-a9b7-4405-a8b7-74145ce9eab8	d81273ea-476b-49af-b15e-12243b90f4ea	g.chr14:101348035C>T	uc010txj.1	-	1	3150	c.3091G>A	c.(3091-3093)GGG>AGG	p.G1031R	MIR433_hsa-mir-433|MI0001723_5'Flank|uc001yig.3_5'Flank|MIR127_hsa-mir-127|MI0000472_5'Flank|MIR432_hsa-mir-432|MI0003133_5'Flank	NM_001134888	NP_001128360	A6NKG5	RTL1_HUMAN	retrotransposon-like 1	1031										pancreas(1)	1						TCTTCTTCCCCGGATTCCGTC	0.562												
MKRN3	7681	broad.mit.edu	37	15	23811448	23811448	+	Silent	SNP	G	G	A			TCGA-CD-A486-01A-11D-A24D-08	TCGA-CD-A486-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77af2c45-a9b7-4405-a8b7-74145ce9eab8	d81273ea-476b-49af-b15e-12243b90f4ea	g.chr15:23811448G>A	uc001ywh.3	+	1	995	c.519G>A	c.(517-519)TCG>TCA	p.S173S	MKRN3_uc001ywi.2_Intron|MKRN3_uc010ayi.1_Silent_p.S173S	NM_005664	NP_005655	Q13064	MKRN3_HUMAN	makorin ring finger protein 3	173						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)		TGATTGGCTCGGCTGCTGAAA	0.612												
C15orf2	23742	broad.mit.edu	37	15	24921169	24921169	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A486-01A-11D-A24D-08	TCGA-CD-A486-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77af2c45-a9b7-4405-a8b7-74145ce9eab8	d81273ea-476b-49af-b15e-12243b90f4ea	g.chr15:24921169G>A	uc001ywo.2	+	1	629	c.155G>A	c.(154-156)CGC>CAC	p.R52H		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	hypothetical protein LOC23742	52					cell differentiation|multicellular organismal development|spermatogenesis					ovary(2)|large_intestine(2)|skin(2)|kidney(1)|central_nervous_system(1)	8		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)		GGCCTGTTCCGCCGGAACGCC	0.756												
HERC2	8924	broad.mit.edu	37	15	28511044	28511044	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A486-01A-11D-A24D-08	TCGA-CD-A486-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77af2c45-a9b7-4405-a8b7-74145ce9eab8	d81273ea-476b-49af-b15e-12243b90f4ea	g.chr15:28511044C>T	uc001zbj.2	-	13	1781	c.1675G>A	c.(1675-1677)GGG>AGG	p.G559R	HERC2_uc001zbl.1_Missense_Mutation_p.G254R	NM_004667	NP_004658	O95714	HERC2_HUMAN	hect domain and RLD 2	559	RCC1 1.				DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(4)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	13		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		TAAGTGCTCCCGCAAGCGATG	0.617												
SERINC4	619189	broad.mit.edu	37	15	44087347	44087347	+	Missense_Mutation	SNP	C	C	A			TCGA-CD-A486-01A-11D-A24D-08	TCGA-CD-A486-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77af2c45-a9b7-4405-a8b7-74145ce9eab8	d81273ea-476b-49af-b15e-12243b90f4ea	g.chr15:44087347C>A	uc010bds.1	-	9	1144	c.676G>T	c.(676-678)GTT>TTT	p.V226F	ELL3_uc001zsx.1_Intron|SERF2_uc010uee.1_3'UTR|C15orf63_uc001ztb.2_Intron|SERF2_uc001zsz.3_3'UTR|MIR1282_hsa-mir-1282|MI0006429_5'Flank|SERINC4_uc001ztc.1_RNA|SERINC4_uc001ztd.1_Missense_Mutation_p.R113S|SERINC4_uc001zte.1_Missense_Mutation_p.V226F	NM_001033517	NP_001028689	A6NH21	SERC4_HUMAN	serine incorporator 4	470	Helical; (Potential).				phospholipid biosynthetic process	integral to membrane					0		all_cancers(109;3.26e-11)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.61e-06)|all_lung(180;1.5e-05)|Melanoma(134;0.0417)		GBM - Glioblastoma multiforme(94;7.81e-07)		CATGAGGCAACCTTGACCCAG	0.552												
EIF3J	8669	broad.mit.edu	37	15	44853224	44853224	+	Silent	SNP	A	A	G			TCGA-CD-A486-01A-11D-A24D-08	TCGA-CD-A486-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77af2c45-a9b7-4405-a8b7-74145ce9eab8	d81273ea-476b-49af-b15e-12243b90f4ea	g.chr15:44853224A>G	uc001ztv.2	+	8	781	c.654A>G	c.(652-654)AAA>AAG	p.K218K	EIF3J_uc010ueg.1_Silent_p.K164K|EIF3J_uc001ztw.2_Silent_p.K169K	NM_003758	NP_003749	O75822	EIF3J_HUMAN	eukaryotic translation initiation factor 3,	218	Poly-Lys.					cytosol|eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity				0		all_cancers(109;2.81e-14)|all_epithelial(112;2.8e-12)|Lung NSC(122;1.66e-07)|all_lung(180;1.47e-06)|Melanoma(134;0.0122)		all cancers(107;3.13e-20)|GBM - Glioblastoma multiforme(94;9.81e-07)|COAD - Colon adenocarcinoma(120;0.0754)|Colorectal(105;0.0758)		AGCAAAGCAAAGCCAAAAAGA	0.408												
FBN1	2200	broad.mit.edu	37	15	48784739	48784739	+	Missense_Mutation	SNP	G	G	T	rs149681175		TCGA-CD-A486-01A-11D-A24D-08	TCGA-CD-A486-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77af2c45-a9b7-4405-a8b7-74145ce9eab8	d81273ea-476b-49af-b15e-12243b90f4ea	g.chr15:48784739G>T	uc001zwx.1	-	24	3101	c.2773C>A	c.(2773-2775)CTG>ATG	p.L925M		NM_000138	NP_000129	P35555	FBN1_HUMAN	fibrillin 1 precursor	925	EGF-like 14; calcium-binding.				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			ovary(2)|large_intestine(1)	3		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		TTAACACACAGGCCATTTTTA	0.358												
KIAA1024	23251	broad.mit.edu	37	15	79748755	79748755	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A486-01A-11D-A24D-08	TCGA-CD-A486-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77af2c45-a9b7-4405-a8b7-74145ce9eab8	d81273ea-476b-49af-b15e-12243b90f4ea	g.chr15:79748755C>T	uc002bew.1	+	2	341	c.266C>T	c.(265-267)ACG>ATG	p.T89M	KIAA1024_uc010unk.1_Missense_Mutation_p.T89M	NM_015206	NP_056021	Q9UPX6	K1024_HUMAN	hypothetical protein LOC23251	89						integral to membrane				pancreas(2)|ovary(1)|central_nervous_system(1)	4						GATATTGTGACGATATTCAAC	0.478												
PEX11A	8800	broad.mit.edu	37	15	90227164	90227164	+	Missense_Mutation	SNP	T	T	A			TCGA-CD-A486-01A-11D-A24D-08	TCGA-CD-A486-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77af2c45-a9b7-4405-a8b7-74145ce9eab8	d81273ea-476b-49af-b15e-12243b90f4ea	g.chr15:90227164T>A	uc002boi.2	-	3	283	c.188A>T	c.(187-189)AAT>ATT	p.N63I	PEX11A_uc010upy.1_RNA	NM_003847	NP_003838	O75192	PX11A_HUMAN	peroxisomal biogenesis factor 11 alpha	63	Cytoplasmic (Potential).				cellular lipid metabolic process|peroxisome fission|signal transduction	integral to peroxisomal membrane					0	Lung NSC(78;0.0237)|all_lung(78;0.0478)		KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|BRCA - Breast invasive adenocarcinoma(143;0.128)			ATGTACCACATTGCCTAGTCT	0.448												
KCTD13	253980	broad.mit.edu	37	16	29922419	29922419	+	Silent	SNP	G	G	T			TCGA-CD-A486-01A-11D-A24D-08	TCGA-CD-A486-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77af2c45-a9b7-4405-a8b7-74145ce9eab8	d81273ea-476b-49af-b15e-12243b90f4ea	g.chr16:29922419G>T	uc002duv.2	-	5	824	c.633C>A	c.(631-633)CTC>CTA	p.L211L	uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|ASPHD1_uc002duu.3_Intron|ASPHD1_uc010bzi.2_Intron|KCTD13_uc010vee.1_RNA	NM_178863	NP_849194	Q8WZ19	BACD1_HUMAN	potassium channel tetramerisation domain	211					cell migration|DNA replication|negative regulation of Rho protein signal transduction|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|stress fiber assembly	Cul3-RING ubiquitin ligase complex|nucleus|voltage-gated potassium channel complex	GTP-Rho binding|voltage-gated potassium channel activity				0						CCTTGAGGAAGAGTAGCCGCC	0.587												
ADAD2	161931	broad.mit.edu	37	16	84228751	84228751	+	Silent	SNP	G	G	A	rs73252701	byFrequency	TCGA-CD-A486-01A-11D-A24D-08	TCGA-CD-A486-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77af2c45-a9b7-4405-a8b7-74145ce9eab8	d81273ea-476b-49af-b15e-12243b90f4ea	g.chr16:84228751G>A	uc002fhr.2	+	4	798	c.684G>A	c.(682-684)TCG>TCA	p.S228S	ADAD2_uc002fhq.2_Silent_p.S300S|uc002fhs.1_5'UTR	NM_001145400	NP_001138872	Q8NCV1	ADAD2_HUMAN	adenosine deaminase domain containing 2 isoform	228					RNA processing	intracellular	adenosine deaminase activity|double-stranded RNA binding				0						ACGAGCGCTCGCCATACTGGG	0.682												
ATP2C2	9914	broad.mit.edu	37	16	84456240	84456240	+	Silent	SNP	C	C	T			TCGA-CD-A486-01A-11D-A24D-08	TCGA-CD-A486-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77af2c45-a9b7-4405-a8b7-74145ce9eab8	d81273ea-476b-49af-b15e-12243b90f4ea	g.chr16:84456240C>T	uc002fhx.2	+	9	869	c.780C>T	c.(778-780)GTC>GTT	p.V260V	ATP2C2_uc010chj.2_Silent_p.V260V|ATP2C2_uc002fhy.2_Silent_p.V277V|ATP2C2_uc002fhz.2_Silent_p.V109V	NM_014861	NP_055676	O75185	AT2C2_HUMAN	ATPase, Ca++ transporting, type 2C, member 2	260	Extracellular (Potential).				ATP biosynthetic process	Golgi membrane|integral to membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding			breast(1)|central_nervous_system(1)	2						CACAGGGGGTCGTGATTGGAA	0.567												
INPP5K	51763	broad.mit.edu	37	17	1411489	1411489	+	Missense_Mutation	SNP	G	G	A	rs141189913		TCGA-CD-A486-01A-11D-A24D-08	TCGA-CD-A486-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77af2c45-a9b7-4405-a8b7-74145ce9eab8	d81273ea-476b-49af-b15e-12243b90f4ea	g.chr17:1411489G>A	uc002fsr.2	-	6	975	c.586C>T	c.(586-588)CGG>TGG	p.R196W	INPP5K_uc002fss.2_Missense_Mutation_p.R120W|INPP5K_uc002fsq.2_Missense_Mutation_p.R120W|INPP5K_uc010cjr.2_Missense_Mutation_p.R120W|INPP5K_uc010vql.1_Missense_Mutation_p.R104W|INPP5K_uc010vqm.1_Intron	NM_016532	NP_057616	Q9BT40	INP5K_HUMAN	inositol polyphosphate-5-phosphatase K isoform	196	Catalytic (Potential).				actin cytoskeleton organization	cytosol|endoplasmic reticulum|membrane fraction|neuron projection|ruffle	inositol 1,3,4,5-tetrakisphosphate 5-phosphatase activity|inositol bisphosphate phosphatase activity|inositol bisphosphate phosphatase activity|inositol trisphosphate phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity|lipid phosphatase activity|protein binding				0						TCCTCGATCCGAAAGTTCATG	0.512												
SARM1	23098	broad.mit.edu	37	17	26711555	26711555	+	Missense_Mutation	SNP	G	G	C			TCGA-CD-A486-01A-11D-A24D-08	TCGA-CD-A486-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77af2c45-a9b7-4405-a8b7-74145ce9eab8	d81273ea-476b-49af-b15e-12243b90f4ea	g.chr17:26711555G>C	uc010crl.1	+	6	1336	c.1269G>C	c.(1267-1269)CAG>CAC	p.Q423H	SARM1_uc010waj.1_RNA|SARM1_uc002hbe.1_5'Flank	NM_015077	NP_055892	Q6SZW1	SARM1_HUMAN	sterile alpha and TIR motif containing 1	423	SAM 1.				innate immune response	cytoplasm|intrinsic to membrane	binding|transmembrane receptor activity				0	all_lung(13;0.000533)|Lung NSC(42;0.00171)			UCEC - Uterine corpus endometrioid carcinoma (53;0.154)		GGCTGCAGCAGATCGGTTTCT	0.682												
TMEM132E	124842	broad.mit.edu	37	17	32964419	32964419	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A486-01A-11D-A24D-08	TCGA-CD-A486-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77af2c45-a9b7-4405-a8b7-74145ce9eab8	d81273ea-476b-49af-b15e-12243b90f4ea	g.chr17:32964419G>A	uc002hif.2	+	10	2451	c.2123G>A	c.(2122-2124)CGC>CAC	p.R708H		NM_207313	NP_997196	Q6IEE7	T132E_HUMAN	transmembrane protein 132E precursor	708	Extracellular (Potential).					integral to membrane				central_nervous_system(1)	1				BRCA - Breast invasive adenocarcinoma(366;0.231)		AAAACCAAACGCAAGAGTGTG	0.652												
KRT25	147183	broad.mit.edu	37	17	38906791	38906791	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A486-01A-11D-A24D-08	TCGA-CD-A486-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77af2c45-a9b7-4405-a8b7-74145ce9eab8	d81273ea-476b-49af-b15e-12243b90f4ea	g.chr17:38906791G>A	uc002hve.2	-	6	1077	c.1016C>T	c.(1015-1017)GCG>GTG	p.A339V		NM_181534	NP_853512	Q7Z3Z0	K1C25_HUMAN	keratin 25	339	Rod.|Coil 2.					cytoplasm|intermediate filament	structural molecule activity			ovary(2)	2		Breast(137;0.00526)				CTGGATCTGCGCCAGCTGCGC	0.562												
ABCA10	10349	broad.mit.edu	37	17	67170746	67170746	+	Splice_Site	SNP	A	A	G			TCGA-CD-A486-01A-11D-A24D-08	TCGA-CD-A486-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77af2c45-a9b7-4405-a8b7-74145ce9eab8	d81273ea-476b-49af-b15e-12243b90f4ea	g.chr17:67170746A>G	uc010dfa.1	-	25	3927	c.3048_splice	c.e25+1	p.L1016_splice	ABCA10_uc010wqs.1_Intron|ABCA10_uc010wqt.1_Splice_Site	NM_080282	NP_525021	Q8WWZ4	ABCAA_HUMAN	ATP-binding cassette, sub-family A, member 10						transport	integral to membrane	ATP binding|ATPase activity			ovary(2)|central_nervous_system(1)|skin(1)	4	Breast(10;6.95e-12)					ATGATCACTTACCAAAACAAA	0.294												
DSEL	92126	broad.mit.edu	37	18	65181636	65181636	+	Silent	SNP	T	T	C			TCGA-CD-A486-01A-11D-A24D-08	TCGA-CD-A486-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77af2c45-a9b7-4405-a8b7-74145ce9eab8	d81273ea-476b-49af-b15e-12243b90f4ea	g.chr18:65181636T>C	uc002lke.1	-	2	1464	c.240A>G	c.(238-240)GGA>GGG	p.G80G		NM_032160	NP_115536	Q8IZU8	DSEL_HUMAN	dermatan sulfate epimerase-like	70						integral to membrane	isomerase activity|sulfotransferase activity			ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	6		Esophageal squamous(42;0.129)				CTTGGATTTCTCCAGCATCAA	0.378												
ANO8	57719	broad.mit.edu	37	19	17435646	17435646	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A486-01A-11D-A24D-08	TCGA-CD-A486-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77af2c45-a9b7-4405-a8b7-74145ce9eab8	d81273ea-476b-49af-b15e-12243b90f4ea	g.chr19:17435646C>T	uc002ngf.2	-	17	3370	c.3211G>A	c.(3211-3213)GGG>AGG	p.G1071R	ANO8_uc010eap.2_RNA	NM_020959	NP_066010	Q9HCE9	ANO8_HUMAN	anoctamin 8	1071	Extracellular (Potential).					chloride channel complex	chloride channel activity			ovary(3)	3						CGGGCCTGCCCGCCCGCCCCG	0.711												
HEATR5B	54497	broad.mit.edu	37	2	37295943	37295943	+	Missense_Mutation	SNP	G	G	T			TCGA-CD-A486-01A-11D-A24D-08	TCGA-CD-A486-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77af2c45-a9b7-4405-a8b7-74145ce9eab8	d81273ea-476b-49af-b15e-12243b90f4ea	g.chr2:37295943G>T	uc002rpp.1	-	8	1154	c.1058C>A	c.(1057-1059)TCC>TAC	p.S353Y		NM_019024	NP_061897	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	353							binding			ovary(5)|skin(2)|breast(1)	8		all_hematologic(82;0.21)				ACATCGTCTGGAGTACACAGC	0.502												
NRXN1	9378	broad.mit.edu	37	2	50280548	50280548	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-A486-01A-11D-A24D-08	TCGA-CD-A486-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77af2c45-a9b7-4405-a8b7-74145ce9eab8	d81273ea-476b-49af-b15e-12243b90f4ea	g.chr2:50280548A>G	uc010fbp.2	-	4	1601	c.794T>C	c.(793-795)GTG>GCG	p.V265A	NRXN1_uc002rxb.3_Missense_Mutation_p.V1002A|NRXN1_uc010fbq.2_Missense_Mutation_p.V1370A|NRXN1_uc002rxe.3_Missense_Mutation_p.V1300A	NM_138735	NP_620072	P58400	NRX1B_HUMAN	neurexin 1 isoform beta precursor	265	Extracellular (Potential).				angiogenesis|neuron cell-cell adhesion|neuronal signal transduction	cell surface|endocytic vesicle|integral to membrane|presynaptic membrane	cell adhesion molecule binding|receptor binding			ovary(2)	2		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			AGAGGAAGGCACTTCACCAAC	0.493												
PAPOLG	64895	broad.mit.edu	37	2	61021162	61021162	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A486-01A-11D-A24D-08	TCGA-CD-A486-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77af2c45-a9b7-4405-a8b7-74145ce9eab8	d81273ea-476b-49af-b15e-12243b90f4ea	g.chr2:61021162G>A	uc002sai.2	+	19	2056	c.1825G>A	c.(1825-1827)GTA>ATA	p.V609I	PAPOLG_uc002saj.2_Missense_Mutation_p.V298I|PAPOLG_uc002sak.2_Missense_Mutation_p.V144I|PAPOLG_uc010fch.2_Missense_Mutation_p.V298I	NM_022894	NP_075045	Q9BWT3	PAPOG_HUMAN	poly(A) polymerase gamma	609					mRNA processing|RNA polyadenylation|transcription, DNA-dependent	nucleus	ATP binding|metal ion binding|polynucleotide adenylyltransferase activity|RNA binding			ovary(1)|central_nervous_system(1)	2	all_hematologic(2;0.0797)		LUSC - Lung squamous cell carcinoma(5;1.19e-07)|Lung(5;2.86e-06)|Epithelial(17;0.0768)			CATTCCTACCGTAGTAGGACG	0.383												
ETAA1	54465	broad.mit.edu	37	2	67631114	67631114	+	Missense_Mutation	SNP	C	C	A			TCGA-CD-A486-01A-11D-A24D-08	TCGA-CD-A486-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77af2c45-a9b7-4405-a8b7-74145ce9eab8	d81273ea-476b-49af-b15e-12243b90f4ea	g.chr2:67631114C>A	uc002sdz.1	+	5	1439	c.1300C>A	c.(1300-1302)CCA>ACA	p.P434T		NM_019002	NP_061875	Q9NY74	ETAA1_HUMAN	ETAA16 protein	434						cytoplasm|nucleus				ovary(3)|large_intestine(1)	4						AAATACAAGTCCAGATGCCAG	0.318												
CAPG	822	broad.mit.edu	37	2	85629046	85629046	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A486-01A-11D-A24D-08	TCGA-CD-A486-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77af2c45-a9b7-4405-a8b7-74145ce9eab8	d81273ea-476b-49af-b15e-12243b90f4ea	g.chr2:85629046C>T	uc002spl.1	-	3	308	c.58G>A	c.(58-60)GGC>AGC	p.G20S	CAPG_uc002spm.1_Missense_Mutation_p.G20S|CAPG_uc010ysq.1_Missense_Mutation_p.G20S|CAPG_uc010fgi.1_Missense_Mutation_p.G20S|CAPG_uc010fgj.1_5'Flank	NM_001747	NP_001738	P40121	CAPG_HUMAN	gelsolin-like capping protein	20					barbed-end actin filament capping|protein complex assembly	F-actin capping protein complex|melanosome|nuclear membrane|nucleolus	actin binding				0						ACATGCAGGCCTGGATCCTGC	0.627												
ARID5A	10865	broad.mit.edu	37	2	97215165	97215165	+	Silent	SNP	C	C	T			TCGA-CD-A486-01A-11D-A24D-08	TCGA-CD-A486-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77af2c45-a9b7-4405-a8b7-74145ce9eab8	d81273ea-476b-49af-b15e-12243b90f4ea	g.chr2:97215165C>T	uc002swe.2	+	3	328	c.228C>T	c.(226-228)ATC>ATT	p.I76I	ARID5A_uc010yuq.1_5'UTR|ARID5A_uc002swf.2_Intron|ARID5A_uc002swg.2_Intron	NM_212481	NP_997646	Q03989	ARI5A_HUMAN	AT rich interactive domain 5A	76	ARID.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding				0						ACACGCCCATCGAGAGGGTGC	0.512												
LRP1B	53353	broad.mit.edu	37	2	141092116	141092116	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CD-A486-01A-11D-A24D-08	TCGA-CD-A486-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77af2c45-a9b7-4405-a8b7-74145ce9eab8	d81273ea-476b-49af-b15e-12243b90f4ea	g.chr2:141092116C>T	uc002tvj.1	-	79	13101	c.12129G>A	c.(12127-12129)TGG>TGA	p.W4043*		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	4043	Extracellular (Potential).|LDL-receptor class B 35.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CAACAACAGTCCAGTACATCA	0.393										TSP Lung(27;0.18)		
EVX2	344191	broad.mit.edu	37	2	176947089	176947089	+	Silent	SNP	G	G	A			TCGA-CD-A486-01A-11D-A24D-08	TCGA-CD-A486-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77af2c45-a9b7-4405-a8b7-74145ce9eab8	d81273ea-476b-49af-b15e-12243b90f4ea	g.chr2:176947089G>A	uc010zeu.1	-	2	702	c.516C>T	c.(514-516)AGC>AGT	p.S172S		NM_001080458	NP_001073927	Q03828	EVX2_HUMAN	even-skipped homeobox 2	172						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(2)	2			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	READ - Rectum adenocarcinoma(9;0.0678)|Colorectal(32;0.115)		CGCTCCCGCCGCTGCCTCCGC	0.716												
TTN	7273	broad.mit.edu	37	2	179517027	179517027	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A486-01A-11D-A24D-08	TCGA-CD-A486-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77af2c45-a9b7-4405-a8b7-74145ce9eab8	d81273ea-476b-49af-b15e-12243b90f4ea	g.chr2:179517027G>A	uc010zfg.1	-	157	32097	c.31873C>T	c.(31873-31875)CCT>TCT	p.P10625S	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc010fre.1_Intron|TTN_uc002umw.1_5'Flank|TTN_uc002umx.1_5'Flank	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	11552							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTAGGAGGAGGCACTGGCACT	0.398												
TTN	7273	broad.mit.edu	37	2	179587262	179587262	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A486-01A-11D-A24D-08	TCGA-CD-A486-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77af2c45-a9b7-4405-a8b7-74145ce9eab8	d81273ea-476b-49af-b15e-12243b90f4ea	g.chr2:179587262G>A	uc010zfg.1	-	74	18744	c.18520C>T	c.(18520-18522)CCA>TCA	p.P6174S	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.P2835S	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	7101							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AAAGAAGGTGGGAGTTGGCGC	0.398												
XRCC5	7520	broad.mit.edu	37	2	216986888	216986888	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A486-01A-11D-A24D-08	TCGA-CD-A486-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77af2c45-a9b7-4405-a8b7-74145ce9eab8	d81273ea-476b-49af-b15e-12243b90f4ea	g.chr2:216986888G>A	uc002vfy.2	+	6	735	c.595G>A	c.(595-597)GAA>AAA	p.E199K	XRCC5_uc002vfz.2_Missense_Mutation_p.E85K	NM_021141	NP_066964	P13010	XRCC5_HUMAN	ATP-dependent DNA helicase II	199					double-strand break repair via nonhomologous end joining|initiation of viral infection|negative regulation of transcription, DNA-dependent|provirus integration|telomere maintenance|transcription, DNA-dependent	Ku70:Ku80 complex|nonhomologous end joining complex|nuclear telomere cap complex|nucleoplasm	ATP binding|ATP-dependent DNA helicase activity|double-stranded DNA binding|protein C-terminus binding|telomeric DNA binding|transcription regulatory region DNA binding			lung(1)|kidney(1)	2		Renal(323;0.0328)		Epithelial(149;9.78e-06)|all cancers(144;0.000632)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.0117)		AGGAATTACCGAACAGCAAAA	0.433								Direct_reversal_of_damage|NHEJ				
STK36	27148	broad.mit.edu	37	2	219564048	219564048	+	Missense_Mutation	SNP	C	C	G			TCGA-CD-A486-01A-11D-A24D-08	TCGA-CD-A486-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77af2c45-a9b7-4405-a8b7-74145ce9eab8	d81273ea-476b-49af-b15e-12243b90f4ea	g.chr2:219564048C>G	uc002viu.2	+	26	4047	c.3781C>G	c.(3781-3783)CAA>GAA	p.Q1261E	STK36_uc002viv.2_Missense_Mutation_p.Q1240E|STK36_uc002viw.2_Missense_Mutation_p.Q439E|STK36_uc002vix.2_Missense_Mutation_p.Q306E	NM_015690	NP_056505	Q9NRP7	STK36_HUMAN	serine/threonine kinase 36	1261					cilium assembly|positive regulation of hh target transcription factor activity|positive regulation of smoothened signaling pathway|post-embryonic development	aggresome|cytoplasm|focal adhesion|intermediate filament cytoskeleton|nucleus	ATP binding|protein serine/threonine kinase activity|transcription factor binding			ovary(4)|stomach(2)|lung(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)	11		Renal(207;0.0915)		Epithelial(149;9.65e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00984)		CCGGAGCCTGCAACAGGAGCC	0.527												
SEL1L2	80343	broad.mit.edu	37	20	13830887	13830887	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A486-01A-11D-A24D-08	TCGA-CD-A486-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77af2c45-a9b7-4405-a8b7-74145ce9eab8	d81273ea-476b-49af-b15e-12243b90f4ea	g.chr20:13830887C>T	uc010gcf.2	-	19	1979	c.1897G>A	c.(1897-1899)GTC>ATC	p.V633I	SEL1L2_uc002woq.3_Missense_Mutation_p.V494I|SEL1L2_uc010zrl.1_Missense_Mutation_p.V520I|SEL1L2_uc002wor.2_RNA	NM_025229	NP_079505	Q5TEA6	SE1L2_HUMAN	sel-1 suppressor of lin-12-like 2 precursor	633	Extracellular (Potential).					integral to membrane	binding			ovary(2)	2						AGTTTCATGACGGCAAAGAGC	0.458												
CHD6	84181	broad.mit.edu	37	20	40033524	40033524	+	Silent	SNP	A	A	C			TCGA-CD-A486-01A-11D-A24D-08	TCGA-CD-A486-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77af2c45-a9b7-4405-a8b7-74145ce9eab8	d81273ea-476b-49af-b15e-12243b90f4ea	g.chr20:40033524A>C	uc002xka.1	-	37	8035	c.7857T>G	c.(7855-7857)CCT>CCG	p.P2619P	CHD6_uc002xjz.1_Silent_p.P156P	NM_032221	NP_115597	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	2619					chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding			ovary(6)|skin(5)|lung(2)|central_nervous_system(1)	14		Myeloproliferative disorder(115;0.00425)				AAATGAGTCCAGGAGATACTC	0.512												
NRIP1	8204	broad.mit.edu	37	21	16339457	16339457	+	Missense_Mutation	SNP	T	T	A			TCGA-CD-A486-01A-11D-A24D-08	TCGA-CD-A486-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77af2c45-a9b7-4405-a8b7-74145ce9eab8	d81273ea-476b-49af-b15e-12243b90f4ea	g.chr21:16339457T>A	uc002yjx.2	-	4	1655	c.1057A>T	c.(1057-1059)ATT>TTT	p.I353F		NM_003489	NP_003480	P48552	NRIP1_HUMAN	nuclear receptor interacting protein 1	353					androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		androgen receptor binding|estrogen receptor binding|glucocorticoid receptor binding|transcription coactivator activity|transcription corepressor activity				0				Epithelial(23;1.19e-05)|all cancers(11;4.64e-05)|COAD - Colon adenocarcinoma(22;0.000232)|Colorectal(24;0.0006)|OV - Ovarian serous cystadenocarcinoma(11;0.00418)|Lung(58;0.199)|LUSC - Lung squamous cell carcinoma(23;0.24)		GAAGAAGGAATGATACCCATT	0.363												
SLC5A1	6523	broad.mit.edu	37	22	32498054	32498054	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A486-01A-11D-A24D-08	TCGA-CD-A486-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77af2c45-a9b7-4405-a8b7-74145ce9eab8	d81273ea-476b-49af-b15e-12243b90f4ea	g.chr22:32498054C>T	uc003amc.2	+	13	1727	c.1495C>T	c.(1495-1497)CGT>TGT	p.R499C	SLC5A1_uc011alz.1_Missense_Mutation_p.R372C	NM_000343	NP_000334	P13866	SC5A1_HUMAN	solute carrier family 5 (sodium/glucose	499	Helical; (Potential).				carbohydrate metabolic process	integral to plasma membrane	glucose:sodium symporter activity|protein binding			skin(1)	1						TGGGATTTCACGTATGATTAC	0.473												
CDC25A	993	broad.mit.edu	37	3	48226154	48226154	+	Silent	SNP	G	G	A			TCGA-CD-A486-01A-11D-A24D-08	TCGA-CD-A486-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77af2c45-a9b7-4405-a8b7-74145ce9eab8	d81273ea-476b-49af-b15e-12243b90f4ea	g.chr3:48226154G>A	uc003csh.1	-	3	643	c.279C>T	c.(277-279)GAC>GAT	p.D93D	CDC25A_uc003csi.1_Silent_p.D93D	NM_001789	NP_001780	P30304	MPIP1_HUMAN	cell division cycle 25A isoform a	93					cell cycle checkpoint|cell division|cell proliferation|cellular response to UV|DNA replication|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mitosis|regulation of cyclin-dependent protein kinase activity|S phase of mitotic cell cycle	cytosol|nucleoplasm	protein binding|protein tyrosine phosphatase activity			lung(3)|kidney(1)|skin(1)	5				BRCA - Breast invasive adenocarcinoma(193;0.000685)|KIRC - Kidney renal clear cell carcinoma(197;0.00596)|Kidney(197;0.00684)		TTTCTTTACTGTCCAATGGCC	0.294												
ROBO1	6091	broad.mit.edu	37	3	78680429	78680429	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-A486-01A-11D-A24D-08	TCGA-CD-A486-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77af2c45-a9b7-4405-a8b7-74145ce9eab8	d81273ea-476b-49af-b15e-12243b90f4ea	g.chr3:78680429T>C	uc003dqe.2	-	25	3716	c.3508A>G	c.(3508-3510)AGA>GGA	p.R1170G	ROBO1_uc003dqb.2_Missense_Mutation_p.R1131G|ROBO1_uc003dqc.2_Missense_Mutation_p.R1070G|ROBO1_uc003dqd.2_Missense_Mutation_p.R1125G|ROBO1_uc010hoh.2_Missense_Mutation_p.R362G|ROBO1_uc011bgl.1_Missense_Mutation_p.R742G	NM_002941	NP_002932	Q9Y6N7	ROBO1_HUMAN	roundabout 1 isoform a	1170	Cytoplasmic (Potential).				activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway	cell surface|cytoplasm|integral to plasma membrane	axon guidance receptor activity|identical protein binding|LRR domain binding			large_intestine(2)	2		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		TTGGGTGTTCTTGCCCCTTTC	0.463												
ROBO1	6091	broad.mit.edu	37	3	78685247	78685247	+	Missense_Mutation	SNP	C	C	A			TCGA-CD-A486-01A-11D-A24D-08	TCGA-CD-A486-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77af2c45-a9b7-4405-a8b7-74145ce9eab8	d81273ea-476b-49af-b15e-12243b90f4ea	g.chr3:78685247C>A	uc003dqe.2	-	23	3257	c.3049G>T	c.(3049-3051)GCA>TCA	p.A1017S	ROBO1_uc003dqb.2_Missense_Mutation_p.A978S|ROBO1_uc003dqc.2_Intron|ROBO1_uc003dqd.2_Missense_Mutation_p.A972S|ROBO1_uc010hoh.2_Missense_Mutation_p.A209S|ROBO1_uc011bgl.1_Missense_Mutation_p.A589S	NM_002941	NP_002932	Q9Y6N7	ROBO1_HUMAN	roundabout 1 isoform a	1017	Cytoplasmic (Potential).				activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway	cell surface|cytoplasm|integral to plasma membrane	axon guidance receptor activity|identical protein binding|LRR domain binding			large_intestine(2)	2		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		TTATAATTTGCTATACAATCA	0.353												
DNAJC13	23317	broad.mit.edu	37	3	132172483	132172483	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-A486-01A-11D-A24D-08	TCGA-CD-A486-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77af2c45-a9b7-4405-a8b7-74145ce9eab8	d81273ea-476b-49af-b15e-12243b90f4ea	g.chr3:132172483T>C	uc003eor.2	+	8	850	c.785T>C	c.(784-786)TTA>TCA	p.L262S	DNAJC13_uc010htq.1_Missense_Mutation_p.L262S|DNAJC13_uc003eos.1_5'Flank	NM_015268	NP_056083	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13	262							heat shock protein binding			ovary(1)|breast(1)	2						GAAACATGTTTAGTAGAACGT	0.313												
PAQR9	344838	broad.mit.edu	37	3	142681730	142681730	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A486-01A-11D-A24D-08	TCGA-CD-A486-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77af2c45-a9b7-4405-a8b7-74145ce9eab8	d81273ea-476b-49af-b15e-12243b90f4ea	g.chr3:142681730C>T	uc003evg.2	-	1	449	c.449G>A	c.(448-450)CGC>CAC	p.R150H	PAQR9_uc003evf.1_5'Flank	NM_198504	NP_940906	Q6ZVX9	PAQR9_HUMAN	progestin and adipoQ receptor family member IX	150	Cytoplasmic (Potential).					integral to membrane	receptor activity				0						GAAGGCGGCGCGCAGACGCAG	0.632												
SLBP	7884	broad.mit.edu	37	4	1696506	1696506	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A486-01A-11D-A24D-08	TCGA-CD-A486-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77af2c45-a9b7-4405-a8b7-74145ce9eab8	d81273ea-476b-49af-b15e-12243b90f4ea	g.chr4:1696506C>T	uc003gdi.1	-	7	806	c.691G>A	c.(691-693)GAC>AAC	p.D231N	SLBP_uc010ibx.1_Missense_Mutation_p.D238N|SLBP_uc003gdj.1_Missense_Mutation_p.D211N|SLBP_uc003gdk.1_Missense_Mutation_p.D192N|SLBP_uc011bvf.1_Missense_Mutation_p.D196N|SLBP_uc003gdl.1_Missense_Mutation_p.D148N	NM_006527	NP_006518	Q14493	SLBP_HUMAN	stem-loop (histone) binding protein	231				Missing: Decrease in 3'-end processing efficiency.	DNA replication involved in S phase|histone mRNA 3'-end processing|mRNA export from nucleus|regulation of S phase|termination of RNA polymerase II transcription	cytosol|histone pre-mRNA 3'end processing complex|nucleoplasm	histone pre-mRNA DCP binding|histone pre-mRNA stem-loop binding|protein binding				0		Breast(71;0.212)|all_epithelial(65;0.241)	OV - Ovarian serous cystadenocarcinoma(23;0.0055)			CTTACAAAGTCATCCTGAGAG	0.423												
TBCK	93627	broad.mit.edu	37	4	107165791	107165791	+	Silent	SNP	T	T	A			TCGA-CD-A486-01A-11D-A24D-08	TCGA-CD-A486-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77af2c45-a9b7-4405-a8b7-74145ce9eab8	d81273ea-476b-49af-b15e-12243b90f4ea	g.chr4:107165791T>A	uc010ilv.2	-	11	1427	c.1062A>T	c.(1060-1062)ACA>ACT	p.T354T	TBCK_uc003hyb.2_Silent_p.T97T|TBCK_uc003hye.2_Silent_p.T315T|TBCK_uc003hyc.2_Silent_p.T291T|TBCK_uc003hyd.2_Silent_p.T182T|TBCK_uc003hyf.2_Silent_p.T354T	NM_001163435	NP_001156907	Q8TEA7	TBCK_HUMAN	TBC domain-containing protein kinase-like	354						intracellular	Rab GTPase activator activity			large_intestine(2)|upper_aerodigestive_tract(1)|stomach(1)|ovary(1)	5						ACTTGGGGAGTGTGCAGATAG	0.343												
LARP7	51574	broad.mit.edu	37	4	113568059	113568059	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A486-01A-11D-A24D-08	TCGA-CD-A486-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77af2c45-a9b7-4405-a8b7-74145ce9eab8	d81273ea-476b-49af-b15e-12243b90f4ea	g.chr4:113568059G>A	uc003iay.2	+	5	778	c.500G>A	c.(499-501)GGA>GAA	p.G167E	LARP7_uc003iaz.2_Missense_Mutation_p.G174E|LARP7_uc003iba.2_Missense_Mutation_p.G88E|LARP7_uc003ibb.2_Missense_Mutation_p.G167E	NM_016648	NP_057732	Q4G0J3	LARP7_HUMAN	La ribonucleoprotein domain family, member 7	167	RRM.				RNA processing	nucleoplasm|ribonucleoprotein complex	nucleotide binding|RNA binding			ovary(3)	3		Ovarian(17;0.0443)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000603)		GATCCAAAGGGATTTGCGTTT	0.303												
SLC25A4	291	broad.mit.edu	37	4	186067969	186067969	+	Silent	SNP	C	C	T			TCGA-CD-A486-01A-11D-A24D-08	TCGA-CD-A486-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77af2c45-a9b7-4405-a8b7-74145ce9eab8	d81273ea-476b-49af-b15e-12243b90f4ea	g.chr4:186067969C>T	uc003ixd.2	+	4	870	c.741C>T	c.(739-741)GCC>GCT	p.A247A	SLC25A4_uc003ixe.2_RNA	NM_001151	NP_001142	P12235	ADT1_HUMAN	adenine nucleotide translocator 1	247	Solcar 3.				energy reserve metabolic process|interspecies interaction between organisms|mitochondrial genome maintenance|negative regulation of necrotic cell death|regulation of insulin secretion|viral reproduction	integral to plasma membrane|mitochondrial inner membrane	adenine transmembrane transporter activity|protein binding			ovary(1)	1		all_lung(41;1.19e-13)|Lung NSC(41;3.16e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00872)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;4.48e-44)|Epithelial(43;2.1e-41)|all cancers(43;1.37e-36)|Colorectal(24;4.79e-05)|BRCA - Breast invasive adenocarcinoma(30;7.72e-05)|GBM - Glioblastoma multiforme(59;0.000274)|COAD - Colon adenocarcinoma(29;0.000362)|STAD - Stomach adenocarcinoma(60;0.000756)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155)	Adenosine triphosphate(DB00171)|Clodronate(DB00720)	TTTCCACAGCCGATATTATGT	0.473												
PDZD2	23037	broad.mit.edu	37	5	32037440	32037440	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A486-01A-11D-A24D-08	TCGA-CD-A486-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77af2c45-a9b7-4405-a8b7-74145ce9eab8	d81273ea-476b-49af-b15e-12243b90f4ea	g.chr5:32037440G>A	uc003jhl.2	+	7	1899	c.1511G>A	c.(1510-1512)CGC>CAC	p.R504H	PDZD2_uc003jhm.2_Missense_Mutation_p.R504H|PDZD2_uc011cnx.1_Missense_Mutation_p.R330H	NM_178140	NP_835260	O15018	PDZD2_HUMAN	PDZ domain containing 2	504					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				central_nervous_system(4)|ovary(2)|skin(2)|large_intestine(1)	9						CTCAAGAGTCGCCTTTCAGGT	0.547												
PDZD2	23037	broad.mit.edu	37	5	32089087	32089087	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A486-01A-11D-A24D-08	TCGA-CD-A486-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77af2c45-a9b7-4405-a8b7-74145ce9eab8	d81273ea-476b-49af-b15e-12243b90f4ea	g.chr5:32089087G>A	uc003jhl.2	+	20	5921	c.5533G>A	c.(5533-5535)GTT>ATT	p.V1845I	PDZD2_uc003jhm.2_Missense_Mutation_p.V1845I	NM_178140	NP_835260	O15018	PDZD2_HUMAN	PDZ domain containing 2	1845					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				central_nervous_system(4)|ovary(2)|skin(2)|large_intestine(1)	9						AAAAAAGGGCGTTACTGTGCC	0.473												
NIPBL	25836	broad.mit.edu	37	5	37020587	37020587	+	Silent	SNP	G	G	A			TCGA-CD-A486-01A-11D-A24D-08	TCGA-CD-A486-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77af2c45-a9b7-4405-a8b7-74145ce9eab8	d81273ea-476b-49af-b15e-12243b90f4ea	g.chr5:37020587G>A	uc003jkl.3	+	26	5536	c.5037G>A	c.(5035-5037)CAG>CAA	p.Q1679Q	NIPBL_uc003jkk.3_Silent_p.Q1679Q	NM_133433	NP_597677	Q6KC79	NIPBL_HUMAN	delangin isoform A	1679					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding			ovary(4)|lung(2)|large_intestine(1)|breast(1)|kidney(1)	9	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			ATATAGCCCAGTGGTTTCGAG	0.348												
SLCO6A1	133482	broad.mit.edu	37	5	101834416	101834416	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A486-01A-11D-A24D-08	TCGA-CD-A486-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77af2c45-a9b7-4405-a8b7-74145ce9eab8	d81273ea-476b-49af-b15e-12243b90f4ea	g.chr5:101834416C>T	uc003knn.2	-	1	305	c.133G>A	c.(133-135)GGG>AGG	p.G45R	SLCO6A1_uc003kno.2_Missense_Mutation_p.G45R|SLCO6A1_uc003knp.2_Missense_Mutation_p.G45R|SLCO6A1_uc003knq.2_Missense_Mutation_p.G45R	NM_173488	NP_775759	Q86UG4	SO6A1_HUMAN	solute carrier organic anion transporter family,	45	Cytoplasmic (Potential).					integral to membrane|plasma membrane	transporter activity			ovary(3)|skin(3)|central_nervous_system(1)	7		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		TGTTTTTTCCCGGGCTTCGAG	0.572												
KCNN2	3781	broad.mit.edu	37	5	113740306	113740306	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A486-01A-11D-A24D-08	TCGA-CD-A486-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77af2c45-a9b7-4405-a8b7-74145ce9eab8	d81273ea-476b-49af-b15e-12243b90f4ea	g.chr5:113740306G>A	uc003kqo.2	+	3	1211	c.754G>A	c.(754-756)GCT>ACT	p.A252T		NM_021614	NP_067627	Q9H2S1	KCNN2_HUMAN	small conductance calcium-activated potassium	252						integral to membrane	calmodulin binding|small conductance calcium-activated potassium channel activity			ovary(2)	2		all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206)		OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195)		CACAACCACCGCTGATGTGGA	0.438												
CDC23	8697	broad.mit.edu	37	5	137548983	137548983	+	Missense_Mutation	SNP	T	T	C	rs143830444		TCGA-CD-A486-01A-11D-A24D-08	TCGA-CD-A486-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77af2c45-a9b7-4405-a8b7-74145ce9eab8	d81273ea-476b-49af-b15e-12243b90f4ea	g.chr5:137548983T>C	uc003lcl.2	-	1	50	c.19A>G	c.(19-21)ATG>GTG	p.M7V	CDC23_uc003lcm.1_Missense_Mutation_p.M7V	NM_004661	NP_004652	Q9UJX2	CDC23_HUMAN	cell division cycle protein 23	7					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G1 phase of mitotic cell cycle|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase plate congression|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination|regulation of exit from mitosis	anaphase-promoting complex|cytosol|nucleoplasm	binding|ubiquitin-protein ligase activity				0			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			ACCGGGACCATGGAGGTACTC	0.532												
PCDHGA8	9708	broad.mit.edu	37	5	140772559	140772559	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A486-01A-11D-A24D-08	TCGA-CD-A486-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77af2c45-a9b7-4405-a8b7-74145ce9eab8	d81273ea-476b-49af-b15e-12243b90f4ea	g.chr5:140772559C>T	uc003lkd.1	+	1	1077	c.179C>T	c.(178-180)GCG>GTG	p.A60V	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_uc003lkb.3_Missense_Mutation_p.A60V	NM_032088	NP_114477	Q9Y5G5	PCDG8_HUMAN	protocadherin gamma subfamily A, 8 isoform 1	60	Cadherin 1.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGGAAGCTGGCGAAGCACGGA	0.612												
PECI	10455	broad.mit.edu	37	6	4133892	4133892	+	Missense_Mutation	SNP	G	G	T			TCGA-CD-A486-01A-11D-A24D-08	TCGA-CD-A486-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77af2c45-a9b7-4405-a8b7-74145ce9eab8	d81273ea-476b-49af-b15e-12243b90f4ea	g.chr6:4133892G>T	uc003mwf.2	-	2	141	c.104C>A	c.(103-105)GCA>GAA	p.A35E	PECI_uc003mwc.2_5'UTR|PECI_uc003mwd.2_Missense_Mutation_p.A5E|PECI_uc003mwe.2_5'UTR|PECI_uc010jnr.1_RNA|uc003mwg.1_5'Flank	NM_206836	NP_996667	O75521	ECI2_HUMAN	peroxisomal D3,D2-enoyl-CoA isomerase isoform 2	35					fatty acid metabolic process	mitochondrion|peroxisomal matrix	dodecenoyl-CoA delta-isomerase activity|fatty-acyl-CoA binding				0	Ovarian(93;0.0925)	all_hematologic(90;0.0895)				GGCTCTCATTGCTGTTCTATT	0.413												
KIF13A	63971	broad.mit.edu	37	6	17781532	17781532	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A486-01A-11D-A24D-08	TCGA-CD-A486-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77af2c45-a9b7-4405-a8b7-74145ce9eab8	d81273ea-476b-49af-b15e-12243b90f4ea	g.chr6:17781532G>A	uc003ncg.3	-	30	3650	c.3545C>T	c.(3544-3546)GCG>GTG	p.A1182V	KIF13A_uc003ncf.2_Missense_Mutation_p.A1169V|KIF13A_uc003nch.3_Missense_Mutation_p.A1182V|KIF13A_uc003nci.3_Missense_Mutation_p.A1169V|KIF13A_uc003nce.1_5'Flank	NM_022113	NP_071396	Q9H1H9	KI13A_HUMAN	kinesin family member 13A isoform a	1182					cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule	centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane	ATP binding|microtubule motor activity|protein binding			large_intestine(2)|ovary(2)	4	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			GAGGTCATCCGCTAACCACAT	0.463												
C6orf204	387119	broad.mit.edu	37	6	118953695	118953695	+	Silent	SNP	A	A	G			TCGA-CD-A486-01A-11D-A24D-08	TCGA-CD-A486-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77af2c45-a9b7-4405-a8b7-74145ce9eab8	d81273ea-476b-49af-b15e-12243b90f4ea	g.chr6:118953695A>G	uc003pxz.1	-	2	741	c.153T>C	c.(151-153)AAT>AAC	p.N51N	C6orf204_uc003pya.1_Silent_p.N54N|C6orf204_uc003pyb.2_Silent_p.N51N|C6orf204_uc011ebj.1_5'UTR|C6orf204_uc003pyc.2_Silent_p.N54N|C6orf204_uc011ebl.1_5'UTR	NM_001042475	NP_001035940	Q5SZL2	CF204_HUMAN	chromosome 6 open reading frame 204 isoform a	51						centrosome				breast(1)	1		all_cancers(87;0.0814)|all_epithelial(87;0.115)		GBM - Glioblastoma multiforme(226;0.0114)|all cancers(137;0.035)|OV - Ovarian serous cystadenocarcinoma(136;0.0618)		TGATATGGTTATTTCGATGGT	0.423												
HEY2	23493	broad.mit.edu	37	6	126080738	126080738	+	Silent	SNP	C	C	T			TCGA-CD-A486-01A-11D-A24D-08	TCGA-CD-A486-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77af2c45-a9b7-4405-a8b7-74145ce9eab8	d81273ea-476b-49af-b15e-12243b90f4ea	g.chr6:126080738C>T	uc003qad.2	+	5	995	c.804C>T	c.(802-804)GCC>GCT	p.A268A	HEY2_uc011ebr.1_Silent_p.A222A	NM_012259	NP_036391	Q9UBP5	HEY2_HUMAN	hairy/enhancer-of-split related with YRPW motif	268	Ala-rich.				negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription initiation from RNA polymerase II promoter|negative regulation of transcription regulatory region DNA binding|Notch signaling pathway|smooth muscle cell differentiation|transcription, DNA-dependent	transcriptional repressor complex	histone deacetylase binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding			breast(1)	1				UCEC - Uterine corpus endometrioid carcinoma (4;0.0608)|GBM - Glioblastoma multiforme(226;0.0361)|all cancers(137;0.193)		ACGCCGCAGCCGCAGCAGCCA	0.682												
STXBP5	134957	broad.mit.edu	37	6	147635091	147635091	+	Missense_Mutation	SNP	C	C	T	rs34215830		TCGA-CD-A486-01A-11D-A24D-08	TCGA-CD-A486-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77af2c45-a9b7-4405-a8b7-74145ce9eab8	d81273ea-476b-49af-b15e-12243b90f4ea	g.chr6:147635091C>T	uc003qlz.2	+	12	1378	c.1217C>T	c.(1216-1218)GCG>GTG	p.A406V	STXBP5_uc010khz.1_Missense_Mutation_p.A406V|STXBP5_uc003qlx.2_RNA|STXBP5_uc003qly.2_Missense_Mutation_p.A77V	NM_001127715	NP_001121187	Q5T5C0	STXB5_HUMAN	syntaxin binding protein 5 (tomosyn) isoform b	406	WD 8.				exocytosis|positive regulation of exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|nicotinic acetylcholine-gated receptor-channel complex|synaptic vesicle	syntaxin-1 binding				0		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694)		GAATATTTTGCGGATTGTCCT	0.363												
COBL	23242	broad.mit.edu	37	7	51092871	51092871	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A486-01A-11D-A24D-08	TCGA-CD-A486-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77af2c45-a9b7-4405-a8b7-74145ce9eab8	d81273ea-476b-49af-b15e-12243b90f4ea	g.chr7:51092871C>T	uc003tpr.3	-	12	3888	c.3703G>A	c.(3703-3705)GCA>ACA	p.A1235T	COBL_uc003tps.2_Missense_Mutation_p.A1245T|COBL_uc011kcl.1_Missense_Mutation_p.A1188T|COBL_uc003tpp.3_Missense_Mutation_p.A1021T|COBL_uc003tpq.3_Missense_Mutation_p.A1129T|COBL_uc003tpo.3_Missense_Mutation_p.A777T	NM_015198	NP_056013	O75128	COBL_HUMAN	cordon-bleu homolog	1235										skin(3)|ovary(2)	5	Glioma(55;0.08)					CTTGCGTCTGCGGTGTTGCTG	0.647												
SYPL1	6856	broad.mit.edu	37	7	105732297	105732297	+	Missense_Mutation	SNP	G	G	T			TCGA-CD-A486-01A-11D-A24D-08	TCGA-CD-A486-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77af2c45-a9b7-4405-a8b7-74145ce9eab8	d81273ea-476b-49af-b15e-12243b90f4ea	g.chr7:105732297G>T	uc003vdp.2	-	6	816	c.734C>A	c.(733-735)TCT>TAT	p.S245Y	SYPL1_uc003vdo.2_Missense_Mutation_p.S227Y	NM_006754	NP_006745	Q16563	SYPL1_HUMAN	synaptophysin-like 1 isoform a	245	Cytoplasmic (Potential).				synaptic transmission	cytoplasmic vesicle membrane|integral to plasma membrane|melanosome|synaptic vesicle	transporter activity				0						ATGAGGGGCAGATGTATTTGA	0.403												
GIMAP1	170575	broad.mit.edu	37	7	150417618	150417618	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A486-01A-11D-A24D-08	TCGA-CD-A486-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77af2c45-a9b7-4405-a8b7-74145ce9eab8	d81273ea-476b-49af-b15e-12243b90f4ea	g.chr7:150417618G>A	uc003whq.2	+	3	613	c.526G>A	c.(526-528)GAG>AAG	p.E176K	GIMAP1_uc003whp.2_Missense_Mutation_p.E184K	NM_130759	NP_570115	Q8WWP7	GIMA1_HUMAN	GTPase, IMAP family member 1	176	Cytoplasmic (Potential).					endoplasmic reticulum membrane|integral to membrane	GTP binding			ovary(1)|breast(1)|central_nervous_system(1)	3			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GGCCTTGCGCGAGCTGGTGGC	0.652												
DLC1	10395	broad.mit.edu	37	8	12948861	12948861	+	Missense_Mutation	SNP	G	G	C			TCGA-CD-A486-01A-11D-A24D-08	TCGA-CD-A486-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77af2c45-a9b7-4405-a8b7-74145ce9eab8	d81273ea-476b-49af-b15e-12243b90f4ea	g.chr8:12948861G>C	uc003wwm.2	-	14	4265	c.3821C>G	c.(3820-3822)GCC>GGC	p.A1274G	DLC1_uc003wwk.1_Missense_Mutation_p.A837G|DLC1_uc003wwl.1_Missense_Mutation_p.A871G|DLC1_uc011kxx.1_Missense_Mutation_p.A763G	NM_182643	NP_872584	Q96QB1	RHG07_HUMAN	deleted in liver cancer 1 isoform 1	1274	Rho-GAP.				actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding			ovary(3)|pancreas(2)|lung(1)|kidney(1)	7						GATCATATGGGCCAGCCCTTG	0.408												
CLU	1191	broad.mit.edu	37	8	27462602	27462602	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A486-01A-11D-A24D-08	TCGA-CD-A486-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77af2c45-a9b7-4405-a8b7-74145ce9eab8	d81273ea-476b-49af-b15e-12243b90f4ea	g.chr8:27462602G>A	uc003xfw.1	-	4	726	c.668C>T	c.(667-669)TCC>TTC	p.S223F	CLU_uc010lux.1_Missense_Mutation_p.S88F|CLU_uc003xfx.1_Missense_Mutation_p.S223F|CLU_uc003xfy.1_Missense_Mutation_p.S234F|CLU_uc003xfz.1_Missense_Mutation_p.S275F	NM_203339	NP_976084	P10909	CLUS_HUMAN	clusterin isoform 2	223					chaperone-mediated protein folding|complement activation, classical pathway|innate immune response|lipid metabolic process|negative regulation of apoptosis|negative regulation of protein homooligomerization|platelet activation|platelet degranulation|positive regulation of NF-kappaB transcription factor activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|response to misfolded protein|response to virus|reverse cholesterol transport	chromaffin granule|cytosol|endoplasmic reticulum|microsome|mitochondrial membrane|nucleus|perinuclear region of cytoplasm|platelet alpha granule lumen|spherical high-density lipoprotein particle	misfolded protein binding|ubiquitin protein ligase binding			ovary(2)	2		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0204)|Colorectal(74;0.132)		GACGATGCGGGACTTGGGAAA	0.597												
ZMAT4	79698	broad.mit.edu	37	8	40625170	40625170	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A486-01A-11D-A24D-08	TCGA-CD-A486-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77af2c45-a9b7-4405-a8b7-74145ce9eab8	d81273ea-476b-49af-b15e-12243b90f4ea	g.chr8:40625170C>T	uc003xnr.2	-	3	328	c.182G>A	c.(181-183)CGG>CAG	p.R61Q	ZMAT4_uc003xns.2_Missense_Mutation_p.R61Q	NM_024645	NP_078921	Q9H898	ZMAT4_HUMAN	zinc finger, matrin type 4 isoform a	61						nucleus	DNA binding|zinc ion binding			pancreas(1)|central_nervous_system(1)|skin(1)	3	Ovarian(28;0.00724)|Colorectal(14;0.0468)	all_cancers(7;0.00936)|all_epithelial(6;3.53e-06)|all_lung(54;0.0318)|Lung NSC(58;0.0919)|Esophageal squamous(32;0.15)|Hepatocellular(245;0.152)	LUSC - Lung squamous cell carcinoma(45;0.00722)			ATTTTCTGACCGGAGCCTCTT	0.468												
PXDNL	137902	broad.mit.edu	37	8	52321907	52321907	+	Silent	SNP	G	G	A			TCGA-CD-A486-01A-11D-A24D-08	TCGA-CD-A486-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77af2c45-a9b7-4405-a8b7-74145ce9eab8	d81273ea-476b-49af-b15e-12243b90f4ea	g.chr8:52321907G>A	uc003xqu.3	-	17	2378	c.2277C>T	c.(2275-2277)GAC>GAT	p.D759D	PXDNL_uc003xqt.3_RNA	NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog-like precursor	759					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			ovary(1)|pancreas(1)	2		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				CGCGGATGCCGTCCCGGTAGG	0.786												
NBN	4683	broad.mit.edu	37	8	90971067	90971067	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A486-01A-11D-A24D-08	TCGA-CD-A486-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77af2c45-a9b7-4405-a8b7-74145ce9eab8	d81273ea-476b-49af-b15e-12243b90f4ea	g.chr8:90971067G>A	uc003yej.1	-	9	1120	c.1010C>T	c.(1009-1011)ACT>ATT	p.T337I	NBN_uc003yei.1_Missense_Mutation_p.T255I|NBN_uc011lgb.1_Missense_Mutation_p.T337I	NM_002485	NP_002476	O60934	NBN_HUMAN	nibrin	337					cell cycle arrest|DNA damage response, signal transduction by p53 class mediator|DNA duplex unwinding|double-strand break repair via homologous recombination|meiosis|mitotic cell cycle G1/S transition checkpoint|mitotic cell cycle G2/M transition DNA damage checkpoint|positive regulation of kinase activity|positive regulation of protein autophosphorylation|regulation of DNA-dependent DNA replication initiation|telomere maintenance	Mre11 complex|nuclear chromosome, telomeric region|nuclear inclusion body|nucleolus|nucleoplasm	protein N-terminus binding|transcription factor binding			central_nervous_system(3)|kidney(3)|lung(1)	7			BRCA - Breast invasive adenocarcinoma(11;0.0344)			TGGTCCTGGAGTTGTTGTCTT	0.403								Direct_reversal_of_damage|Homologous_recombination	Nijmegen_Breakage_syndrome			
KIAA2026	158358	broad.mit.edu	37	9	5922640	5922640	+	Missense_Mutation	SNP	G	G	T			TCGA-CD-A486-01A-11D-A24D-08	TCGA-CD-A486-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77af2c45-a9b7-4405-a8b7-74145ce9eab8	d81273ea-476b-49af-b15e-12243b90f4ea	g.chr9:5922640G>T	uc003zjq.3	-	8	3572	c.3356C>A	c.(3355-3357)GCA>GAA	p.A1119E	KIAA2026_uc010mht.2_Missense_Mutation_p.A294E	NM_001017969	NP_001017969	Q5HYC2	K2026_HUMAN	hypothetical protein LOC158358	1119										ovary(2)|central_nervous_system(1)	3		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)		TTTTGCAACTGCTTTTCCTTC	0.378												
MUSK	4593	broad.mit.edu	37	9	113563164	113563164	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A486-01A-11D-A24D-08	TCGA-CD-A486-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77af2c45-a9b7-4405-a8b7-74145ce9eab8	d81273ea-476b-49af-b15e-12243b90f4ea	g.chr9:113563164C>T	uc004bey.2	+	14	2604	c.2506C>T	c.(2506-2508)CGT>TGT	p.R836C	MUSK_uc004bez.1_Missense_Mutation_p.R416C	NM_005592	NP_005583	O15146	MUSK_HUMAN	skeletal muscle receptor tyrosine kinase	836	Protein kinase.|Cytoplasmic (Potential).				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			lung(3)|ovary(2)|central_nervous_system(1)	6						CAATCTCATGCGTCTATGTTG	0.532												
NOTCH1	4851	broad.mit.edu	37	9	139405667	139405667	+	Missense_Mutation	SNP	C	C	A			TCGA-CD-A486-01A-11D-A24D-08	TCGA-CD-A486-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77af2c45-a9b7-4405-a8b7-74145ce9eab8	d81273ea-476b-49af-b15e-12243b90f4ea	g.chr9:139405667C>A	uc004chz.2	-	16	2524	c.2524G>T	c.(2524-2526)GGG>TGG	p.G842W	NOTCH1_uc004cia.1_Missense_Mutation_p.G72W	NM_017617	NP_060087	P46531	NOTC1_HUMAN	notch1 preproprotein	842	Extracellular (Potential).|EGF-like 22.				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			haematopoietic_and_lymphoid_tissue(791)|upper_aerodigestive_tract(29)|lung(13)|central_nervous_system(10)|breast(9)|large_intestine(1)|skin(1)|oesophagus(1)|pancreas(1)	856	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		CTGCACTCCCCGCCGTTTCTG	0.687			T|Mis|O	TRB@	T-ALL					HNSCC(8;0.001)		
DCAF12L1	139170	broad.mit.edu	37	X	125685967	125685967	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A486-01A-11D-A24D-08	TCGA-CD-A486-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77af2c45-a9b7-4405-a8b7-74145ce9eab8	d81273ea-476b-49af-b15e-12243b90f4ea	g.chrX:125685967C>T	uc004eul.2	-	1	876	c.625G>A	c.(625-627)GTG>ATG	p.V209M		NM_178470	NP_848565	Q5VU92	DC121_HUMAN	DDB1 and CUL4 associated factor 12-like 1	209	WD 2.									skin(3)|ovary(1)	4						GAGCCGCTCACGGCTACGGTG	0.652												
BCORL1	63035	broad.mit.edu	37	X	129190051	129190051	+	Silent	SNP	C	C	T			TCGA-CD-A486-01A-11D-A24D-08	TCGA-CD-A486-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77af2c45-a9b7-4405-a8b7-74145ce9eab8	d81273ea-476b-49af-b15e-12243b90f4ea	g.chrX:129190051C>T	uc004evb.1	+	13	5190	c.5076C>T	c.(5074-5076)TAC>TAT	p.Y1692Y	BCORL1_uc004evc.1_Silent_p.Y528Y	NM_021946	NP_068765	Q5H9F3	BCORL_HUMAN	BCL6 co-repressor-like 1	1692					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				ovary(4)|breast(2)|lung(1)	7						TGGTGCGGTACGAGCCAGACC	0.607												
TP53	7157	broad.mit.edu	37	17	7578382	7578399	+	In_Frame_Del	DEL	GAGCAGCGCTCATGGTGG	GAGCAGCGCTCATGGTGG	-	rs138525931	by1000genomes	TCGA-CD-A486-01A-11D-A24D-08	TCGA-CD-A486-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77af2c45-a9b7-4405-a8b7-74145ce9eab8	d81273ea-476b-49af-b15e-12243b90f4ea	g.chr17:7578382_7578399delGAGCAGCGCTCATGGTGG	uc002gim.2	-	5	725_742	c.531_548delCCACCATGAGCGCTGCTC	c.(529-549)CCCCACCATGAGCGCTGCTCA>CCA	p.HHERCS178del	TP53_uc002gig.1_In_Frame_Del_p.HHERCS178del|TP53_uc002gih.2_In_Frame_Del_p.HHERCS178del|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_In_Frame_Del_p.HHERCS46del|TP53_uc010cng.1_In_Frame_Del_p.HHERCS46del|TP53_uc002gii.1_In_Frame_Del_p.HHERCS46del|TP53_uc010cnh.1_In_Frame_Del_p.HHERCS178del|TP53_uc010cni.1_In_Frame_Del_p.HHERCS178del|TP53_uc002gij.2_In_Frame_Del_p.HHERCS178del|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_In_Frame_Del_p.HHERCS85del|TP53_uc002gio.2_In_Frame_Del_p.HHERCS46del|TP53_uc010vug.1_In_Frame_Del_p.HHERCS139del	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	178_183	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		S -> P (in sporadic cancers; somatic mutation).|S -> L (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.H179R(98)|p.H179Y(74)|p.H179L(31)|p.S183*(21)|p.R181H(20)|p.H179Q(17)|p.R181P(14)|p.R181C(13)|p.H178fs*69(13)|p.H179N(13)|p.E180*(13)|p.H179D(10)|p.P177P(10)|p.P177_C182delPHHERC(8)|p.H178Y(8)|p.C182S(8)|p.0?(7)|p.H178P(6)|p.C182*(5)|p.E180K(5)|p.H178fs*3(5)|p.H178Q(5)|p.H178D(4)|p.R181L(3)|p.C176_R181delCPHHER(3)|p.R175_E180delRCPHHE(3)|p.R174fs*24(3)|p.E180D(3)|p.H179P(3)|p.S183P(3)|p.H178N(3)|p.H179fs*68(2)|p.R181R(2)|p.H179H(2)|p.P177fs*3(2)|p.H178H(2)|p.V173fs*59(2)|p.?(2)|p.S183L(2)|p.C182R(2)|p.C182Y(2)|p.R174fs*1(2)|p.C182C(2)|p.K164_P219del(1)|p.R49P(1)|p.C176fs*65(1)|p.R181G(1)|p.E180fs*67(1)|p.C176fs*68(1)|p.V173fs*23(1)|p.R175_H178>X(1)|p.V172_E180delVVRRCPHHE(1)|p.P177H(1)|p.R174_H179delRRCPHH(1)|p.H168fs*69(1)|p.H178L(1)|p.H179del(1)|p.E180G(1)|p.V173fs*69(1)|p.R181>XXXXXXX(1)|p.E180Q(1)|p.R88P(1)|p.P177fs*69(1)|p.C176_P177delCP(1)|p.C182fs*4(1)|p.R81fs*24(1)|p.E180>DGRCPHQ(1)|p.H178del(1)|p.R174_E180>K(1)|p.P177_H179delPHH(1)|p.R174_H178>S(1)|p.P177L(1)|p.H178fs*6(1)|p.P177_E180delPHHE(1)|p.R42fs*24(1)|p.C182fs*65(1)|p.E180_S183del(1)|p.E171fs*1(1)|p.R174fs*3(1)|p.H178_H179>QY(1)|p.E171_H179delEVVRRCPHH(1)|p.E180fs*6(1)|p.E171fs*61(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		ATCGCTATCTGAGCAGCGCTCATGGTGGGGGCAGCGCC	0.638		111	Mis|N|F		breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types	breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types		Other_conserved_DNA_damage_response_genes	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)		
LGALS3BP	3959	broad.mit.edu	37	17	76972185	76972185	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CD-A486-01A-11D-A24D-08	TCGA-CD-A486-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77af2c45-a9b7-4405-a8b7-74145ce9eab8	d81273ea-476b-49af-b15e-12243b90f4ea	g.chr17:76972185delG	uc002jwh.2	-	3	285	c.106delC	c.(106-108)CGCfs	p.R36fs	LGALS3BP_uc002jwi.2_5'UTR|LGALS3BP_uc010dhr.2_Intron	NM_005567	NP_005558	Q08380	LG3BP_HUMAN	galectin 3 binding protein	36	SRCR.			R -> L (in Ref. 4; AA sequence).|R -> H (in Ref. 5; AA sequence).	cell adhesion|cellular defense response	extracellular space|membrane|proteinaceous extracellular matrix	protein binding|scavenger receptor activity			central_nervous_system(3)|ovary(1)	4			BRCA - Breast invasive adenocarcinoma(99;0.0677)|OV - Ovarian serous cystadenocarcinoma(97;0.139)			ATCTCCACGCGGCCCTGGTTG	0.667												
G3BP1	10146	broad.mit.edu	37	5	151178856	151178857	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CD-A486-01A-11D-A24D-08	TCGA-CD-A486-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77af2c45-a9b7-4405-a8b7-74145ce9eab8	d81273ea-476b-49af-b15e-12243b90f4ea	g.chr5:151178856_151178857insA	uc003lun.2	+	8	996_997	c.825_826insA	c.(823-828)GTTAAAfs	p.V275fs	G3BP1_uc003lum.2_Frame_Shift_Ins_p.V275fs|G3BP1_uc011dcu.1_Frame_Shift_Ins_p.V93fs|G3BP1_uc010jhz.2_Frame_Shift_Ins_p.V93fs|G3BP1_uc003luq.2_Intron	NM_005754	NP_005745	Q13283	G3BP1_HUMAN	Ras-GTPase-activating protein SH3-domain-binding	275_276					Ras protein signal transduction|transport	cytosol|nucleus|plasma membrane	ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|endonuclease activity|protein binding|RNA binding			skin(3)|ovary(1)	4		all_hematologic(541;0.0338)|Medulloblastoma(196;0.091)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)			CTCATGTTGTTAAAGTACCAGC	0.401												
BICD2	23299	broad.mit.edu	37	9	95527000	95527002	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-CD-A486-01A-11D-A24D-08	TCGA-CD-A486-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77af2c45-a9b7-4405-a8b7-74145ce9eab8	d81273ea-476b-49af-b15e-12243b90f4ea	g.chr9:95527000_95527002delCTC	uc004aso.1	-	1	82_84	c.25_27delGAG	c.(25-27)GAGdel	p.E9del	BICD2_uc004asp.1_In_Frame_Del_p.E9del	NM_015250	NP_056065	Q8TD16	BICD2_HUMAN	bicaudal D homolog 2 isoform 2	9					microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule	cytoplasmic vesicle|cytoskeleton|Golgi apparatus|plasma membrane	Rab GTPase binding			skin(1)	1						GCCGCGCGTACTCCTCCTCCTCC	0.650												
ADAM30	11085	broad.mit.edu	37	1	120436864	120436868	+	Frame_Shift_Del	DEL	AATAA	AATAA	-			TCGA-CD-A486-01A-11D-A24D-08	TCGA-CD-A486-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77af2c45-a9b7-4405-a8b7-74145ce9eab8	d81273ea-476b-49af-b15e-12243b90f4ea	g.chr1:120436863_120436867TAATAA>T	uc001eij.3	-	0	2281_2285	c.2093_2097TTATTA>A	c.(2092-2097)ttattafs	p.L698fs		NM_021794	NP_068566	Q9UKF2	ADA30_HUMAN	Homo sapiens ADAM metallopeptidase domain 30 (ADAM30), mRNA.	698					proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2)	38	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138)		Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117)		CTGAAAGGATTAATAAAATAAGGCG	0.439												
G3BP1	10146	broad.mit.edu	37	5	151178857	151178858	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CD-A486-01A-11D-A24D-08	TCGA-CD-A486-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77af2c45-a9b7-4405-a8b7-74145ce9eab8	d81273ea-476b-49af-b15e-12243b90f4ea	g.chr5:151178856_151178857T>TA	uc003lun.3	+	7	996_997	c.825_826T>TA	c.(823-828)gttaaafs	p.V275fs	G3BP1_uc003lum.3_Frame_Shift_Ins_p.V275fs|G3BP1_uc011dcu.2_Frame_Shift_Ins_p.V93fs|G3BP1_uc010jhz.3_Frame_Shift_Ins_p.V93fs|G3BP1_uc003luq.3_Intron	NM_005754	NP_938405	Q13283	G3BP1_HUMAN	Homo sapiens GTPase activating protein (SH3 domain) binding protein 1 (G3BP1), transcript variant 1, mRNA.	275					Ras protein signal transduction|transport	cytosol|nucleus|plasma membrane	ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|RNA binding|endonuclease activity|protein binding			breast(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|skin(3)|urinary_tract(2)	29		all_hematologic(541;0.0338)|Medulloblastoma(196;0.091)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)			CTCATGTTGTTAAAGTACCAGC	0.401												
SYNCRIP	10492	broad.mit.edu	37	6	86350007	86350008	+	In_Frame_Ins	INS	-	-	TGT			TCGA-CD-A486-01A-11D-A24D-08	TCGA-CD-A486-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77af2c45-a9b7-4405-a8b7-74145ce9eab8	d81273ea-476b-49af-b15e-12243b90f4ea	g.chr6:86350006_86350007C>CTGT	uc003pla.2	-	3	848_849	c.307_308G>ACAG	c.(307-309)agg>ACAGg	p.R103T	SYNCRIP_uc003pku.3_In_Frame_Ins_p.R103T|SYNCRIP_uc003pkv.3_In_Frame_Ins_p.R103T|SYNCRIP_uc003pkw.3_In_Frame_Ins_p.R103T|SYNCRIP_uc003pkx.3_5'UTR|SYNCRIP_uc003pky.3_In_Frame_Ins_p.R5T|SYNCRIP_uc003pkz.2_In_Frame_Ins_p.R103T	NM_006372	NP_006363	O60506	HNRPQ_HUMAN	Homo sapiens synaptotagmin binding, cytoplasmic RNA interacting protein (SYNCRIP), transcript variant 1, mRNA.	103					CRD-mediated mRNA stabilization|interspecies interaction between organisms	CRD-mediated mRNA stability complex|catalytic step 2 spliceosome|endoplasmic reticulum|histone pre-mRNA 3'end processing complex|microsome|nucleoplasm	nucleotide binding|protein binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	33		all_cancers(76;0.000137)|Acute lymphoblastic leukemia(125;3.66e-08)|Prostate(29;8.2e-07)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0297)		BRCA - Breast invasive adenocarcinoma(108;0.0389)		TTCTCTCTGCCTGTAAGTCTTC	0.332												
NOD1	10392	broad.mit.edu	37	7	30492600	30492603	+	Frame_Shift_Del	DEL	GCAC	GCAC	-	rs140176390		TCGA-CD-A486-01A-11D-A24D-08	TCGA-CD-A486-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77af2c45-a9b7-4405-a8b7-74145ce9eab8	d81273ea-476b-49af-b15e-12243b90f4ea	g.chr7:30492599_30492602AGCAC>A	uc003tav.3	-	5	954_957	c.431_434GTGCT>T	c.(430-435)gtgctgfs	p.V144fs	NOD1_uc010kvs.2_Frame_Shift_Del_p.V144fs	NM_006092	NP_006083	Q9Y239	NOD1_HUMAN	Homo sapiens nucleotide-binding oligomerization domain containing 1 (NOD1), mRNA.	144					JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|activation of MAPK activity|detection of bacterium|induction of apoptosis|inflammatory response|innate immune response|interleukin-8 biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of dendritic cell antigen processing and presentation|protein oligomerization|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	basolateral plasma membrane|cytosol	ATP binding|CARD domain binding|caspase activator activity|peptidoglycan binding|protein homodimerization activity			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|skin(2)	39						GGCATAGCACAGCACGAACTTGGA	0.603												
HECTD2	143279	broad.mit.edu	37	10	93247481	93247482	+	Frame_Shift_Ins	INS	-	-	A	rs57105282		TCGA-CD-A486-01A-11D-A24D-08	TCGA-CD-A486-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77af2c45-a9b7-4405-a8b7-74145ce9eab8	d81273ea-476b-49af-b15e-12243b90f4ea	g.chr10:93247480_93247481C>CA	uc010qnm.1	+	11	1248_1249	c.1148_1149C>CA	c.(1147-1149)gcafs	p.A383fs	LOC100188947_uc010qnl.2_Intron|HECTD2_uc001khl.2_Frame_Shift_Ins_p.A379fs|HECTD2_uc001khm.2_Non-coding_Transcript|HECTD2_uc009xty.1_Intron|HECTD2_uc001khn.1_Frame_Shift_Ins_p.A29fs	NM_182765	NP_877497	Q5U5R9	HECD2_HUMAN	Homo sapiens HECT domain containing 2 (HECTD2), transcript variant 1, mRNA.	379					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity			breast(2)|endometrium(2)|kidney(4)|large_intestine(10)|lung(7)|skin(1)|urinary_tract(1)	27						TCTGTAGCTGCAAAAAAAATCA	0.317												
STARD10	10809	broad.mit.edu	37	11	72465974	72465982	+	In_Frame_Del	DEL	CGCCGCCCG	CGCCGCCCG	-			TCGA-CD-A486-01A-11D-A24D-08	TCGA-CD-A486-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77af2c45-a9b7-4405-a8b7-74145ce9eab8	d81273ea-476b-49af-b15e-12243b90f4ea	g.chr11:72465973_72465981TCGCCGCCCG>T	uc001osy.3	-	6	1021_1029	c.837_845CGGGCGGCGA>A	c.(835-846)gcgggcggcgag>gcAg	p.GGE280del	ARAP1_uc001osv.3_Intron|STARD10_uc001osz.4_In_Frame_Del_p.GGE280del|STARD10_uc001ota.3_In_Frame_Del_p.GGE234del|STARD10_uc001otb.3_In_Frame_Del_p.GGE280del|ARAP1_uc001osu.3_5'Flank	NM_006645	NP_006636	Q9Y365	PCTL_HUMAN	Homo sapiens StAR-related lipid transfer (START) domain containing 10 (STARD10), mRNA.	280										endometrium(4)|large_intestine(1)|lung(2)|prostate(1)	8			BRCA - Breast invasive adenocarcinoma(5;7.08e-07)			GTCGCTGCCCTCGCCGCCCGCGCCGCCCA	0.718