Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	t_alt_count	t_ref_count	validation_status	validation_method	validation_tumor_sample	validation_alt_allele	pox	qox	isArtifactMode	oxoGCut
VPS13D	55187	broad.mit.edu	37	1	12336511	12336511	+	Silent	SNP	C	C	T			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr1:12336511C>T	uc001atv.2	+	19	3007	c.2866C>T	c.(2866-2868)CTG>TTG	p.L956L	VPS13D_uc001atw.2_Silent_p.L956L|VPS13D_uc001atx.2_Silent_p.L144L	NM_015378	NP_056193	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13D isoform 1	956					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)		GCAGCTCCTCCTGGCGGAATT	0.498		NA									OREG0013110	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	57					0	0	0	0
SPEN	23013	broad.mit.edu	37	1	16262721	16262721	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr1:16262721C>T	uc001axk.1	+	11	10190	c.9986C>T	c.(9985-9987)TCC>TTC	p.S3329F	SPEN_uc010obp.1_Missense_Mutation_p.S3288F	NM_015001	NP_055816	Q96T58	MINT_HUMAN	spen homolog, transcriptional regulator	3329	Pro-rich.				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			ovary(6)|breast(3)|lung(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	15		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		CCCGCCGCTTCCTCTGTTGGC	0.632		NA											7	57					0	0	0	0
MACF1	23499	broad.mit.edu	37	1	39826464	39826464	+	Splice_Site	SNP	G	G	C			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr1:39826464G>C	uc010oiu.1	+	12	7696	c.7565_splice	c.e12-1	p.D2522_splice	MACF1_uc010ois.1_Splice_Site_p.D2020_splice|MACF1_uc001cda.1_Splice_Site_p.D1928_splice|MACF1_uc001cdc.1_Splice_Site_p.D1107_splice|MACF1_uc001cdb.1_Splice_Site_p.D1107_splice	NM_033044	NP_149033	Q9UPN3	MACF1_HUMAN	microfilament and actin filament cross-linker						cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			ovary(8)|breast(3)|central_nervous_system(3)|skin(2)	16	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TGATTTTTCAGATTCCATACT	0.348		NA											8	36					0	0	0	0
FOXJ3	22887	broad.mit.edu	37	1	42744162	42744162	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr1:42744162C>G	uc001che.2	-	5	538	c.226G>C	c.(226-228)GAT>CAT	p.D76H	FOXJ3_uc001chf.2_Missense_Mutation_p.D76H|FOXJ3_uc001chg.2_Missense_Mutation_p.D76H|FOXJ3_uc001chh.1_Missense_Mutation_p.D76H	NM_014947	NP_055762	Q9UPW0	FOXJ3_HUMAN	forkhead box J3	76					embryo development|organ development|pattern specification process|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			ovary(2)	2	Ovarian(52;0.01)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				GGTTTCCCATCTTTGTGCTGT	0.388		NA											15	78					0	0	0	0
DMAP1	55929	broad.mit.edu	37	1	44685131	44685131	+	Silent	SNP	C	C	G			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr1:44685131C>G	uc001clq.1	+	8	1040	c.960C>G	c.(958-960)GTC>GTG	p.V320V	DMAP1_uc001clr.1_Silent_p.V320V|DMAP1_uc001cls.1_Silent_p.V320V|DMAP1_uc010oku.1_Silent_p.V310V	NM_001034024	NP_001029196	Q9NPF5	DMAP1_HUMAN	DNA methyltransferase 1 associated protein 1	320					DNA methylation|histone H2A acetylation|histone H4 acetylation|negative regulation of transcription, DNA-dependent|regulation of growth|transcription, DNA-dependent	NuA4 histone acetyltransferase complex	DNA binding|protein binding				0	Acute lymphoblastic leukemia(166;0.155)					CTGCAGGTGTCACGCTGCGGA	0.582		NA											9	29					0	0	0	0
CYP4B1	1580	broad.mit.edu	37	1	47264771	47264771	+	Silent	SNP	C	C	T			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr1:47264771C>T	uc001cqm.3	+	1	102	c.18C>T	c.(16-18)CTC>CTT	p.L6L	CYP4B1_uc009vyl.1_5'UTR|CYP4B1_uc001cqn.3_Silent_p.L6L|CYP4B1_uc009vym.2_Silent_p.L6L|CYP4B1_uc010omk.1_5'UTR	NM_000779	NP_000770	P13584	CP4B1_HUMAN	cytochrome P450, family 4, subfamily B,	6					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			ovary(1)|skin(1)	2	Acute lymphoblastic leukemia(166;0.155)					CCAGCTTCCTCTCCCTGAGCT	0.572		NA											4	22					0	0	0	0
ZFYVE9	9372	broad.mit.edu	37	1	52729530	52729530	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr1:52729530C>G	uc001cto.2	+	5	2436	c.2264C>G	c.(2263-2265)TCA>TGA	p.S755*	ZFYVE9_uc001ctn.2_Nonsense_Mutation_p.S755*|ZFYVE9_uc001ctp.2_Nonsense_Mutation_p.S755*	NM_004799	NP_004790	O95405	ZFYV9_HUMAN	zinc finger, FYVE domain containing 9 isoform 3	755	FYVE-type.				endocytosis|SMAD protein complex assembly|SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway	early endosome membrane	metal ion binding|protein binding|receptor activity|serine-type peptidase activity			ovary(2)|lung(2)|central_nervous_system(2)|skin(2)	8						ATCTGCCATTCAGTGCTAATG	0.418		NA											5	23					0	0	0	0
USP1	7398	broad.mit.edu	37	1	62905655	62905655	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr1:62905655C>G	uc001daj.1	+	2	445	c.117C>G	c.(115-117)TTC>TTG	p.F39L	USP1_uc001dak.1_Missense_Mutation_p.F39L|USP1_uc001dal.1_Missense_Mutation_p.F39L	NM_001017415	NP_001017415	O94782	UBP1_HUMAN	ubiquitin specific protease 1	39					DNA repair|monoubiquitinated protein deubiquitination|regulation of DNA repair|response to UV|ubiquitin-dependent protein catabolic process	nucleoplasm	cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			ovary(1)	1		all_neural(321;0.0281)		BRCA - Breast invasive adenocarcinoma(111;8.01e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00245)|OV - Ovarian serous cystadenocarcinoma(397;0.0535)		CTTTGGATTTCACAGATTCTC	0.318		NA											15	74					0	0	0	0
USP33	23032	broad.mit.edu	37	1	78207408	78207408	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr1:78207408C>T	uc001dht.2	-	3	415	c.68G>A	c.(67-69)GGG>GAG	p.G23E	USP33_uc001dhu.2_5'UTR|USP33_uc001dhv.2_5'Flank|USP33_uc001dhw.2_Missense_Mutation_p.G23E	NM_015017	NP_055832	Q8TEY7	UBP33_HUMAN	ubiquitin specific protease 33 isoform 1	23					axon guidance|cell migration|endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm|VCB complex	cysteine-type endopeptidase activity|G-protein-coupled receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			lung(2)|ovary(1)	3						TTCCTGTTTCCCAAGACTTTC	0.289		NA											3	24					0	0	0	0
HFM1	164045	broad.mit.edu	37	1	91727882	91727882	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr1:91727882G>C	uc001doa.3	-	38	4254	c.4154C>G	c.(4153-4155)TCT>TGT	p.S1385C	HFM1_uc009wdb.2_RNA|HFM1_uc010osu.1_Missense_Mutation_p.S1064C|HFM1_uc001dob.3_Missense_Mutation_p.S573C	NM_001017975	NP_001017975	A2PYH4	HFM1_HUMAN	HFM1 protein	1385							ATP binding|ATP-dependent helicase activity|nucleic acid binding				0		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		GTTTTTTTCAGAGAAAGTAAA	0.279		NA											21	84					0	0	0	0
ABCA4	24	broad.mit.edu	37	1	94526123	94526123	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr1:94526123C>T	uc001dqh.2	-	14	2234	c.2130G>A	c.(2128-2130)ATG>ATA	p.M710I	ABCA4_uc010otn.1_Missense_Mutation_p.M710I	NM_000350	NP_000341	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A member 4	710	Helical; (Potential).				phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			ovary(4)|skin(4)|central_nervous_system(2)|upper_aerodigestive_tract(1)|breast(1)	12		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		GGAAGATGCTCATCGACATGA	0.463		NA											20	75					0	0	0	0
ARHGAP29	9411	broad.mit.edu	37	1	94652141	94652141	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr1:94652141C>T	uc001dqj.3	-	16	2063	c.1694G>A	c.(1693-1695)CGA>CAA	p.R565Q	ARHGAP29_uc009wdq.1_RNA|ARHGAP29_uc001dqk.2_Missense_Mutation_p.R131Q	NM_004815	NP_004806	Q52LW3	RHG29_HUMAN	PTPL1-associated RhoGAP 1	565					Rho protein signal transduction	cytosol	metal ion binding|Rho GTPase activator activity			breast(4)|skin(3)|lung(2)|upper_aerodigestive_tract(1)|ovary(1)	11		all_lung(203;0.000732)|Lung NSC(277;0.00328)		all cancers(265;0.0187)|Epithelial(280;0.159)		TGGAAGTTTTCGATGAAAGTC	0.388		NA											36	97					0	0	0	0
RWDD3	25950	broad.mit.edu	37	1	95710026	95710026	+	Silent	SNP	C	C	A			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr1:95710026C>A	uc009wdu.2	+	2	421	c.345C>A	c.(343-345)CTC>CTA	p.L115L	RWDD3_uc001drd.3_3'UTR|RWDD3_uc010oty.1_Silent_p.L100L|RWDD3_uc009wdt.2_Silent_p.L115L|RWDD3_uc001drf.3_Silent_p.L115L|RWDD3_uc001drh.3_Silent_p.L100L|RWDD3_uc009wdv.2_Intron|RWDD3_uc001drg.3_RNA|RWDD3_uc001dri.3_Silent_p.L115L	NM_015485	NP_056300	Q9Y3V2	RWDD3_HUMAN	RWD domain containing 3 isoform a	115						cytoplasm|nucleus	protein binding			ovary(1)	1		all_epithelial(167;5.99e-05)|all_lung(203;0.00168)|Lung NSC(277;0.00769)		all cancers(265;0.112)|Epithelial(280;0.229)		GGCATATCCTCAGCCAACCAG	0.443		NA											13	46					6.72e-11	9.95e-11	1	0
DPYD	1806	broad.mit.edu	37	1	97564048	97564048	+	Silent	SNP	G	G	T			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr1:97564048G>T	uc001drv.2	-	21	2900	c.2763C>A	c.(2761-2763)ATC>ATA	p.I921I		NM_000110	NP_000101	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase isoform 1	921					'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity			ovary(3)|skin(3)|breast(2)	8		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Enfuvirtide(DB00109)	TTTTTACCTTGATGGTAGGAA	0.289		NA											22	68					5.35e-06	7.53e-06	1	0
DPYD	1806	broad.mit.edu	37	1	98039322	98039322	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr1:98039322G>A	uc001drv.2	-	11	1470	c.1333C>T	c.(1333-1335)CCT>TCT	p.P445S		NM_000110	NP_000101	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase isoform 1	445					'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity			ovary(3)|skin(3)|breast(2)	8		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Enfuvirtide(DB00109)	GTACCTTTAGGATCACTCAGA	0.398		NA											24	77					0	0	0	0
ANKRD35	148741	broad.mit.edu	37	1	145560245	145560245	+	Missense_Mutation	SNP	G	G	A	rs146006151	byFrequency	TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr1:145560245G>A	uc001eob.1	+	8	839	c.731G>A	c.(730-732)CGG>CAG	p.R244Q	NBPF10_uc001emp.3_Intron|ANKRD35_uc010oyx.1_Missense_Mutation_p.R87Q	NM_144698	NP_653299	Q8N283	ANR35_HUMAN	ankyrin repeat domain 35	244	ANK 6.									ovary(4)|skin(1)	5	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GCCCTGAGCCGGCGGCGGCGG	0.552		NA											17	62					0	0	0	0
HIST2H3D	653604	broad.mit.edu	37	1	149785051	149785051	+	Silent	SNP	C	C	G			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr1:149785051C>G	uc010pbl.1	-	1	186	c.186G>C	c.(184-186)CTG>CTC	p.L62L	HIST2H2BF_uc010pbj.1_5'Flank|HIST2H2BF_uc010pbk.1_5'Flank|HIST2H2BF_uc001esr.2_5'Flank	NM_001123375	NP_001116847	Q71DI3	H32_HUMAN	histone cluster 2, H3d	62					blood coagulation|nucleosome assembly	nucleoplasm|nucleosome	DNA binding|protein binding				0						GCTTGCGGATCAGCAGCTCCG	0.692		NA											12	29					0	0	0	0
INSRR	3645	broad.mit.edu	37	1	156821804	156821804	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr1:156821804G>A	uc010pht.1	-	3	1071	c.817C>T	c.(817-819)CGC>TGC	p.R273C	NTRK1_uc001fqf.1_Intron|NTRK1_uc009wsi.1_Intron|INSRR_uc009wsj.1_Missense_Mutation_p.R273C	NM_014215	NP_055030	P14616	INSRR_HUMAN	insulin receptor-related receptor precursor	273					protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity			lung(11)|ovary(5)|skin(2)|kidney(1)|central_nervous_system(1)	20	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					GTGACACAGCGCCAGGACTCA	0.662		NA											10	32					0	0	0	0
PIGM	93183	broad.mit.edu	37	1	160001446	160001446	+	Silent	SNP	G	G	A			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr1:160001446G>A	uc001fuv.1	-	1	338	c.84C>T	c.(82-84)GCC>GCT	p.A28A		NM_145167	NP_660150	Q9H3S5	PIGM_HUMAN	phosphatidylinositol glycan anchor biosynthesis,	28	Helical; (Potential).				C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane				ovary(2)|skin(1)	3	all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GGGCGACTCTGGCTAGAAAGG	0.607		NA											30	77					0	0	0	0
ALDH9A1	223	broad.mit.edu	37	1	165664528	165664528	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr1:165664528C>A	uc001gdh.1	-	2	393	c.288G>T	c.(286-288)GAG>GAT	p.E96D	ALDH9A1_uc010pky.1_Missense_Mutation_p.E2D|ALDH9A1_uc010pkz.1_Missense_Mutation_p.E86D|ALDH9A1_uc010pla.1_Missense_Mutation_p.E2D	NM_000696	NP_000687	P49189	AL9A1_HUMAN	aldehyde dehydrogenase 9A1	72					carnitine biosynthetic process|cellular aldehyde metabolic process|hormone metabolic process|neurotransmitter biosynthetic process	cytosol|plasma membrane	3-chloroallyl aldehyde dehydrogenase activity|4-trimethylammoniobutyraldehyde dehydrogenase activity|aldehyde dehydrogenase (NAD) activity|aminobutyraldehyde dehydrogenase activity				0	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)				NADH(DB00157)	TTCGGCAACGCTCCATGCCAG	0.398		NA											18	34					3.53e-06	4.99e-06	1	0
ILDR2	387597	broad.mit.edu	37	1	166891884	166891884	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr1:166891884C>T	uc001gdx.1	-	8	1213	c.1157G>A	c.(1156-1158)CGC>CAC	p.R386H		NM_199351	NP_955383	Q71H61	ILDR2_HUMAN	immunoglobulin-like domain containing receptor	386	Cytoplasmic (Potential).					integral to membrane				ovary(1)	1						TGAGGGCCCGCGGCTTGCCCC	0.582		NA											47	225					0	0	0	0
CACNA1E	777	broad.mit.edu	37	1	181727186	181727186	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr1:181727186C>T	uc001gow.2	+	31	4598	c.4433C>T	c.(4432-4434)CCG>CTG	p.P1478L	CACNA1E_uc009wxs.2_Missense_Mutation_p.P1366L|CACNA1E_uc001gox.1_Missense_Mutation_p.P704L|CACNA1E_uc009wxt.2_Missense_Mutation_p.P704L	NM_000721	NP_000712	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type,	1478	IV.|Cytoplasmic (Potential).				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			ovary(3)|central_nervous_system(2)|pancreas(1)	6						GTGGTGTCTCCGTCCTTTGAG	0.557		NA											20	85					0	0	0	0
ATP2B4	493	broad.mit.edu	37	1	203696681	203696681	+	Silent	SNP	G	G	A	rs113186728	byFrequency	TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr1:203696681G>A	uc001gzw.2	+	20	4175	c.3291G>A	c.(3289-3291)CTG>CTA	p.L1097L	ATP2B4_uc001gzv.2_Silent_p.L1097L|ATP2B4_uc009xaq.2_Silent_p.L1097L|ATP2B4_uc001gzx.2_Silent_p.L128L|ATP2B4_uc009xar.2_Silent_p.L92L|ATP2B4_uc010pqj.1_RNA|uc010pqk.1_5'Flank|SNORA77_uc001gzy.1_5'Flank	NM_001684	NP_001675	P23634	AT2B4_HUMAN	plasma membrane calcium ATPase 4 isoform 4b	1097	Cytoplasmic (Potential).|Calmodulin-binding subdomain A.				ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding			ovary(2)|skin(1)	3	all_cancers(21;0.071)|all_epithelial(62;0.228)		BRCA - Breast invasive adenocarcinoma(75;0.109)			TCCGGGGCCTGAACCGTATCC	0.562		NA											32	75					0	0	0	0
VASH2	79805	broad.mit.edu	37	1	213147383	213147383	+	Silent	SNP	C	C	T			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr1:213147383C>T	uc001hjy.2	+	6	1170	c.966C>T	c.(964-966)CCC>CCT	p.P322P	VASH2_uc001hjv.2_RNA|VASH2_uc001hjx.2_Silent_p.P257P|VASH2_uc010ptn.1_Silent_p.P218P|VASH2_uc001hjw.2_Silent_p.P278P	NM_001136475	NP_001129947	Q86V25	VASH2_HUMAN	vasohibin 2 isoform 3	322					positive regulation of angiogenesis|positive regulation of endothelial cell proliferation	cytoplasm					0				OV - Ovarian serous cystadenocarcinoma(81;0.00479)|all cancers(67;0.00844)|GBM - Glioblastoma multiforme(131;0.0496)|Epithelial(68;0.0986)		AGGCAAGCCCCCCGAGGAGGC	0.577		NA											5	56					0	0	0	0
FAM89A	375061	broad.mit.edu	37	1	231155686	231155686	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr1:231155686C>G	uc001hui.2	-	2	516	c.478G>C	c.(478-480)GAC>CAC	p.D160H	FAM89A_uc009xfm.2_Missense_Mutation_p.D171H|MIR1182_hsa-mir-1182|MI0006275_5'Flank	NM_198552	NP_940954	Q96GI7	FA89A_HUMAN	family with sequence similarity 89, member A	160											0	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)				GGGCCTCGGTCCCTCCTGTCG	0.587		NA											27	66					0	0	0	0
OR13A1	79290	broad.mit.edu	37	10	45799190	45799190	+	Silent	SNP	C	C	T			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr10:45799190C>T	uc001jcc.1	-	4	990	c.681G>A	c.(679-681)GTG>GTA	p.V227V	OR13A1_uc001jcd.1_Silent_p.V223V	NM_001004297	NP_001004297	Q8NGR1	O13A1_HUMAN	olfactory receptor, family 13, subfamily A,	227	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0						TCAGGAAGTTCACTATGCCGT	0.552		NA											14	83					0	0	0	0
CYP2C19	1557	broad.mit.edu	37	10	96541716	96541716	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr10:96541716C>G	uc010qnz.1	+	5	781	c.781C>G	c.(781-783)CGG>GGG	p.R261G	CYP2C19_uc009xus.1_Missense_Mutation_p.R126G|CYP2C19_uc010qny.1_Missense_Mutation_p.R239G	NM_000769	NP_000760	P33261	CP2CJ_HUMAN	cytochrome P450, family 2, subfamily C,	261					exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity			ovary(4)|central_nervous_system(1)|skin(1)	6		Colorectal(252;0.09)		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582)	CAACAACCCTCGGGACTTTAT	0.353		NA											22	47					0	0	0	0
MGEA5	10724	broad.mit.edu	37	10	103563684	103563684	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr10:103563684G>C	uc001ktv.2	-	7	1287	c.844C>G	c.(844-846)CAT>GAT	p.H282D	MGEA5_uc010qqe.1_Missense_Mutation_p.H282D|MGEA5_uc009xws.2_Missense_Mutation_p.H282D|MGEA5_uc001ktw.2_Missense_Mutation_p.H282D|MGEA5_uc009xwt.2_Intron	NM_012215	NP_036347	O60502	NCOAT_HUMAN	meningioma expressed antigen 5 (hyaluronidase)	282					glycoprotein catabolic process	cytoplasm|nucleus	histone acetyltransferase activity|hyalurononglucosaminidase activity			ovary(2)|skin(1)	3		Colorectal(252;0.207)		Epithelial(162;4.67e-09)|all cancers(201;2.54e-07)		TCATTAGCATGAATGTTATCC	0.398		NA											28	117					0	0	0	0
CNNM2	54805	broad.mit.edu	37	10	104678683	104678683	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr10:104678683G>C	uc001kwm.2	+	1	570	c.446G>C	c.(445-447)CGA>CCA	p.R149P	CNNM2_uc001kwn.2_Missense_Mutation_p.R149P|CNNM2_uc001kwl.2_Missense_Mutation_p.R149P	NM_017649	NP_060119	Q9H8M5	CNNM2_HUMAN	cyclin M2 isoform 1	149					ion transport	integral to membrane				ovary(1)|central_nervous_system(1)	2		Colorectal(252;0.103)|all_hematologic(284;0.152)|Breast(234;0.198)		Epithelial(162;7.89e-09)|all cancers(201;1.82e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		GGCCCCCAGCGATGCGGCATC	0.517		NA											36	114					0	0	0	0
MUC5B	727897	broad.mit.edu	37	11	1271681	1271681	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr11:1271681C>G	uc009ycr.1	+	51	15116	c.14990C>G	c.(14989-14991)GCC>GGC	p.A4997G	MUC5B_uc001ltb.2_Missense_Mutation_p.A4527G	NM_017511	NP_059981	Q9HC84	MUC5B_HUMAN	SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming;	4524	23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding				0		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		AGCTTTACAGCCATCCCCTCC	0.627		NA											41	71					0	0	0	0
EIF3M	10480	broad.mit.edu	37	11	32615458	32615458	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr11:32615458G>C	uc001mtu.2	+	6	623	c.580G>C	c.(580-582)GAG>CAG	p.E194Q	EIF3M_uc010ref.1_Missense_Mutation_p.E62Q	NM_006360	NP_006351	Q7L2H7	EIF3M_HUMAN	eukaryotic translation initiation factor 3,	194						eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity			ovary(1)|breast(1)|skin(1)	3	Breast(20;0.109)					AAGTTACACAGAGGACAATGC	0.388		NA											12	26					0	0	0	0
EHF	26298	broad.mit.edu	37	11	34668200	34668200	+	Silent	SNP	C	C	G			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr11:34668200C>G	uc001mvr.1	+	3	423	c.312C>G	c.(310-312)CTC>CTG	p.L104L	EHF_uc009yke.1_Silent_p.L104L|EHF_uc009ykf.1_Silent_p.L107L	NM_012153	NP_036285	Q9NZC4	EHF_HUMAN	ets homologous factor	104	PNT.				cell proliferation|epithelial cell differentiation|multicellular organismal development|positive regulation of transcription, DNA-dependent		protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0		all_hematologic(20;0.117)	Epithelial(1;0.055)|all cancers(1;0.137)|STAD - Stomach adenocarcinoma(6;0.235)			GGCAGCTCCTCTACAGCAACT	0.552		NA											316	140					0	0	0	0
FOLH1	2346	broad.mit.edu	37	11	49214404	49214404	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr11:49214404C>A	uc001ngy.2	-	4	715	c.454G>T	c.(454-456)GAA>TAA	p.E152*	FOLH1_uc001ngz.2_Nonsense_Mutation_p.E152*|FOLH1_uc009yly.2_Nonsense_Mutation_p.E137*|FOLH1_uc009ylz.2_Nonsense_Mutation_p.E137*|FOLH1_uc009yma.2_5'UTR|FOLH1_uc001nha.2_Nonsense_Mutation_p.E137*	NM_004476	NP_004467	Q04609	FOLH1_HUMAN	folate hydrolase 1 isoform 1	152	Extracellular (Probable).				proteolysis	cytoplasm|integral to plasma membrane|membrane fraction|nucleus	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity			large_intestine(1)|ovary(1)|skin(1)	3					Capromab(DB00089)|L-Glutamic Acid(DB00142)	GAAACATTTTCATATCCTGGA	0.323		NA											9	108					1.62e-10	2.39e-10	1	0
OR5D13	390142	broad.mit.edu	37	11	55541619	55541619	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr11:55541619C>T	uc010ril.1	+	1	706	c.706C>T	c.(706-708)CGC>TGC	p.R236C		NM_001001967	NP_001001967	Q8NGL4	OR5DD_HUMAN	olfactory receptor, family 5, subfamily D,	236	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|pancreas(1)|skin(1)	3		all_epithelial(135;0.196)				TGCAAGTGGGCGCCAGAAAAC	0.408		NA											8	67					0	0	0	0
OR1S1	219959	broad.mit.edu	37	11	57982300	57982300	+	Silent	SNP	G	G	T	rs139788490		TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr11:57982300G>T	uc010rkc.1	+	1	84	c.84G>T	c.(82-84)CTG>CTT	p.L28L		NM_001004458	NP_001004458	Q8NH92	OR1S1_HUMAN	olfactory receptor, family 1, subfamily S,	28	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)	1		Breast(21;0.0589)				TCATTCTCCTGGGATTTTTCA	0.423		NA											10	108					1.77e-08	2.57e-08	1	0
HNRNPUL2	221092	broad.mit.edu	37	11	62484600	62484600	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr11:62484600C>G	uc001nuw.2	-	11	2035	c.1842G>C	c.(1840-1842)GAG>GAC	p.E614D	HNRNPUL2_uc001nuu.1_RNA	NM_001079559	NP_001073027	Q1KMD3	HNRL2_HUMAN	heterogeneous nuclear ribonucleoprotein U-like	614					cell killing	nucleus	ATP binding|nucleic acid binding				0						CTTCCTCCTTCTCCAGCTCCC	0.498		NA											3	41					0	0	0	0
EHBP1L1	254102	broad.mit.edu	37	11	65349905	65349905	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr11:65349905G>C	uc001oeo.3	+	9	2027	c.1762G>C	c.(1762-1764)GAA>CAA	p.E588Q	EHBP1L1_uc001oep.1_Intron	NM_001099409	NP_001092879	Q8N3D4	EH1L1_HUMAN	tangerin	588	Glu-rich.									central_nervous_system(1)	1						CCAGGAGAAAGAAGTTGAGGG	0.562		NA											8	43					0	0	0	0
CTSF	8722	broad.mit.edu	37	11	66332076	66332076	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr11:66332076C>A	uc001oip.2	-	11	1364	c.1274G>T	c.(1273-1275)AGC>ATC	p.S425I		NM_003793	NP_003784	Q9UBX1	CATF_HUMAN	cathepsin F precursor	425					proteolysis	lysosome	cysteine-type endopeptidase activity				0						GAGCCAAGGGCTGCAGAGGGG	0.627		NA											9	3					0.000673444	0.00090456	1	0
UCP3	7352	broad.mit.edu	37	11	73717291	73717291	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr11:73717291C>T	uc001our.2	-	3	615	c.260G>A	c.(259-261)CGC>CAC	p.R87H	UCP3_uc001ous.2_Missense_Mutation_p.R87H	NM_003356	NP_003347	P55916	UCP3_HUMAN	uncoupling protein 3 isoform UCP3L	87	Solcar 1.|Helical; Name=2; (Potential).				mitochondrial transport|respiratory electron transport chain|respiratory gaseous exchange	integral to membrane|mitochondrial inner membrane	binding			pancreas(1)	1	Breast(11;2.08e-05)					GCTCATCTGGCGCTGCAGGCC	0.647		NA											8	33					0	0	0	0
SIK3	23387	broad.mit.edu	37	11	116728595	116728595	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr11:116728595C>T	uc001ppy.2	-	20	3304	c.3268G>A	c.(3268-3270)GAA>AAA	p.E1090K	SIK3_uc001ppz.2_Missense_Mutation_p.E929K|SIK3_uc001pqa.2_Missense_Mutation_p.E1030K|SIK3_uc001ppw.2_Missense_Mutation_p.E447K|SIK3_uc001ppx.2_Missense_Mutation_p.E468K|SIK3_uc001pqb.2_Missense_Mutation_p.E393K	NM_025164	NP_079440	Q9Y2K2	SIK3_HUMAN	serine/threonine-protein kinase QSK	1090						cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			ovary(4)|breast(3)|stomach(2)|lung(1)|skin(1)|kidney(1)	12						ATCCCCAATTCTTGGGCATGA	0.507		NA											12	57					0	0	0	0
ADAMTS15	170689	broad.mit.edu	37	11	130343462	130343462	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr11:130343462C>T	uc010scd.1	+	8	2599	c.2599C>T	c.(2599-2601)CGG>TGG	p.R867W		NM_139055	NP_620686	Q8TE58	ATS15_HUMAN	a disintegrin-like and metalloprotease	867	TSP type-1 2.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			large_intestine(2)|pancreas(1)|lung(1)|skin(1)	5	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0631)|Lung(977;0.215)		GGTGGACTGCCGGGGCTCCGC	0.751		NA											5	24					0	0	0	0
ATN1	1822	broad.mit.edu	37	12	7047686	7047686	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr12:7047686C>G	uc001qrw.1	+	7	2797	c.2560C>G	c.(2560-2562)CTG>GTG	p.L854V	ATN1_uc001qrx.1_Missense_Mutation_p.L854V	NM_001007026	NP_001007027	P54259	ATN1_HUMAN	atrophin-1	854					cell death|central nervous system development	cytoplasm|nucleus	protein domain specific binding			ovary(2)|breast(2)|pancreas(1)|skin(1)	6						ATGCCCATCTCTGGGCCCAGT	0.607		NA									OREG0021641	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	42					0	0	0	0
APOBEC1	339	broad.mit.edu	37	12	7818459	7818459	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr12:7818459C>T	uc001qtb.2	-	1	44	c.10G>A	c.(10-12)GAG>AAG	p.E4K	APOBEC1_uc001qtc.2_5'UTR|APOBEC1_uc010sgf.1_Missense_Mutation_p.E4K	NM_001644	NP_001635	P41238	ABEC1_HUMAN	apolipoprotein B mRNA editing enzyme	4					cytidine to uridine editing|DNA demethylation|lipid metabolic process|mRNA modification|mRNA processing|negative regulation of methylation-dependent chromatin silencing	nucleoplasm	cytidine deaminase activity|RNA binding|zinc ion binding				0						TTACCTTTCTCAGAAGTCATG	0.378		NA											24	126					0	0	0	0
SLCO1B1	10599	broad.mit.edu	37	12	21377664	21377664	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr12:21377664C>G	uc001req.3	+	14	1860	c.1756C>G	c.(1756-1758)CTA>GTA	p.L586V		NM_006446	NP_006437	Q9Y6L6	SO1B1_HUMAN	solute carrier organic anion transporter family,	586	Helical; Name=11; (Potential).				bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	bile acid transmembrane transporter activity|sodium-independent organic anion transmembrane transporter activity|thyroid hormone transmembrane transporter activity			ovary(3)|skin(3)|pancreas(1)|central_nervous_system(1)	8					Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175)	AGGAGGAATTCTAGCTCCAAT	0.358		NA											21	67					0	0	0	0
SOX5	6660	broad.mit.edu	37	12	23998941	23998941	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr12:23998941C>G	uc001rfw.2	-	3	559	c.457G>C	c.(457-459)GAG>CAG	p.E153Q	SOX5_uc001rfx.2_Missense_Mutation_p.E140Q|SOX5_uc001rfy.2_Missense_Mutation_p.E140Q|SOX5_uc010siv.1_Missense_Mutation_p.E140Q|SOX5_uc010siw.1_RNA|SOX5_uc001rfz.1_Missense_Mutation_p.E105Q|SOX5_uc001rga.2_Missense_Mutation_p.E118Q	NM_006940	NP_008871	P35711	SOX5_HUMAN	SRY (sex determining region Y)-box 5 isoform a	153					transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			ovary(5)|lung(1)	6						TTGATGAGCTCTTCCATTTTC	0.438		NA											17	85					0	0	0	0
STAT6	6778	broad.mit.edu	37	12	57500498	57500498	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr12:57500498C>G	uc009zpe.2	-	5	707	c.456G>C	c.(454-456)CAG>CAC	p.Q152H	STAT6_uc009zpf.2_Missense_Mutation_p.Q152H|STAT6_uc001sna.2_Missense_Mutation_p.Q152H|STAT6_uc010srb.1_Missense_Mutation_p.Q42H|STAT6_uc010src.1_Missense_Mutation_p.Q42H|STAT6_uc010srd.1_Missense_Mutation_p.Q42H|STAT6_uc009zpg.2_Missense_Mutation_p.Q201H	NM_003153	NP_003144	P42226	STAT6_HUMAN	signal transducer and activator of transcription	152					regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			ovary(2)|lung(1)|skin(1)	4						CAGCCCCCTTCTGCAGGGCTT	0.567		NA											55	122					0	0	0	0
GLI1	2735	broad.mit.edu	37	12	57864291	57864291	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr12:57864291C>T	uc001snx.2	+	12	1846	c.1768C>T	c.(1768-1770)CGG>TGG	p.R590W	GLI1_uc009zpq.2_Missense_Mutation_p.R462W	NM_005269	NP_005260	P08151	GLI1_HUMAN	GLI family zinc finger 1 isoform 1	590					epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	transcription regulatory region DNA binding|zinc ion binding			skin(4)|ovary(4)|breast(3)|central_nervous_system(1)|urinary_tract(1)|kidney(1)|pancreas(1)	15			GBM - Glioblastoma multiforme(3;3.99e-32)			CTACCTGCTTCGGGCAAGATA	0.632		NA											13	63					0	0	0	0
CYP27B1	1594	broad.mit.edu	37	12	58158990	58158990	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr12:58158990G>C	uc001spz.1	-	4	746	c.594C>G	c.(592-594)ATC>ATG	p.I198M	CYP27B1_uc001sqa.1_Translation_Start_Site|CYP27B1_uc001sqb.1_Missense_Mutation_p.R79G|CYP27B1_uc001sqc.1_Missense_Mutation_p.R79G	NM_000785	NP_000776	O15528	CP27B_HUMAN	cytochrome P450, family 27, subfamily B,	198					bone mineralization|calcium ion homeostasis|calcium ion transport|decidualization|G1 to G0 transition|hormone biosynthetic process|negative regulation of calcidiol 1-monooxygenase activity|negative regulation of cell growth|negative regulation of cell proliferation|positive regulation of keratinocyte differentiation|positive regulation of vitamin D 24-hydroxylase activity|positive regulation of vitamin D receptor signaling pathway|regulation of bone mineralization|response to estrogen stimulus|response to interferon-gamma|response to lipopolysaccharide|response to tumor necrosis factor|response to vitamin D|vitamin D biosynthetic process|xenobiotic metabolic process	mitochondrial outer membrane	calcidiol 1-monooxygenase activity|electron carrier activity|heme binding			central_nervous_system(3)	3	all_cancers(7;8.09e-80)|Lung NSC(6;2.26e-27)|all_lung(6;1.99e-25)|all_epithelial(6;3.62e-18)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		GBM - Glioblastoma multiforme(5;1.97e-113)|all cancers(5;1.54e-78)|BRCA - Breast invasive adenocarcinoma(9;0.0294)		Calcidiol(DB00146)|Calcitriol(DB00136)|Ergocalciferol(DB00153)	GAACCGCGGCGATGCCTTGTC	0.692		NA									OREG0021953	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	32					0	0	0	0
DUSP6	1848	broad.mit.edu	37	12	89745576	89745576	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr12:89745576C>T	uc001tay.2	-	1	721	c.241G>A	c.(241-243)GAG>AAG	p.E81K	DUSP6_uc001taz.2_Missense_Mutation_p.E81K	NM_001946	NP_001937	Q16828	DUS6_HUMAN	dual specificity phosphatase 6 isoform a	81	Rhodanese.				dorsal/ventral pattern formation|inactivation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|nerve growth factor receptor signaling pathway|positive regulation of apoptosis|regulation of endodermal cell fate specification|regulation of fibroblast growth factor receptor signaling pathway|regulation of heart growth|response to nitrosative stress|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity				0						TCCCGGTCCTCGCCGCGCGTG	0.677		NA											4	28					0	0	0	0
SLC24A6	80024	broad.mit.edu	37	12	113758155	113758155	+	Silent	SNP	G	G	A			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr12:113758155G>A	uc001tvc.2	-	7	885	c.675C>T	c.(673-675)GTC>GTT	p.V225V	SLC24A6_uc001tuz.2_5'Flank|SLC24A6_uc001tva.2_RNA|SLC24A6_uc001tvb.2_Intron	NM_024959	NP_079235	Q6J4K2	NCKX6_HUMAN	solute carrier family 24 member 6 precursor	225	Extracellular (Potential).				response to stimulus|sodium ion transport	integral to membrane|plasma membrane	calcium:cation antiporter activity			central_nervous_system(1)	1						ATGCCAGGGTGACCCTGCCAC	0.602		NA											44	159					0	0	0	0
COQ5	84274	broad.mit.edu	37	12	120941685	120941685	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr12:120941685C>T	uc001tyn.2	-	7	906	c.886G>A	c.(886-888)GAG>AAG	p.E296K	COQ5_uc001tyo.2_Missense_Mutation_p.E215K|COQ5_uc010szj.1_Missense_Mutation_p.E222K	NM_032314	NP_115690	Q5HYK3	COQ5_HUMAN	coenzyme Q5 homolog, methyltransferase	296					ubiquinone biosynthetic process	mitochondrion	methyltransferase activity			ovary(1)	1	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TCCTTGAACTCTTCCTGAAAC	0.413		NA											20	70					0	0	0	0
TMEM132D	121256	broad.mit.edu	37	12	129694177	129694177	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr12:129694177G>A	uc009zyl.1	-	5	1659	c.1331C>T	c.(1330-1332)ACG>ATG	p.T444M		NM_133448	NP_597705	Q14C87	T132D_HUMAN	transmembrane protein 132D precursor	444	Extracellular (Potential).					integral to membrane				ovary(10)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	14	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		CGTCTTCCCCGTGAGGATGGC	0.592		NA											11	39					0	0	0	0
TUBA3C	7278	broad.mit.edu	37	13	19753481	19753481	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr13:19753481C>T	uc009zzj.2	-	2	275	c.226G>A	c.(226-228)GAT>AAT	p.D76N		NM_006001	NP_005992	Q13748	TBA3C_HUMAN	tubulin, alpha 3c	76					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			ovary(3)|skin(2)	5		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)		GAGCACCTACCGACCACAGTG	0.587		NA											7	67					0	0	0	0
KIAA0564	23078	broad.mit.edu	37	13	42335296	42335296	+	Silent	SNP	G	G	C			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr13:42335296G>C	uc001uyj.2	-	21	2464	c.2394C>G	c.(2392-2394)CTC>CTG	p.L798L	KIAA0564_uc001uyk.2_Silent_p.L798L	NM_015058	NP_055873	A3KMH1	K0564_HUMAN	hypothetical protein LOC23078 isoform a	798						extracellular region	ATP binding|ATPase activity			ovary(3)|upper_aerodigestive_tract(1)|kidney(1)|skin(1)	6		Lung NSC(96;4.61e-06)|Prostate(109;0.0167)|Lung SC(185;0.0262)|Breast(139;0.0854)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000368)|GBM - Glioblastoma multiforme(144;0.0033)|BRCA - Breast invasive adenocarcinoma(63;0.0969)		GGGGTCTGTTGAGCAGGTGAA	0.363		NA											22	80					0	0	0	0
CDADC1	81602	broad.mit.edu	37	13	49852553	49852553	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr13:49852553C>A	uc001vcu.2	+	7	1194	c.1118C>A	c.(1117-1119)TCT>TAT	p.S373Y	CDADC1_uc010tgk.1_Missense_Mutation_p.S175Y|CDADC1_uc001vcv.2_RNA	NM_030911	NP_112173	Q9BWV3	CDAC1_HUMAN	cytidine and dCMP deaminase domain containing 1	373							hydrolase activity|zinc ion binding			upper_aerodigestive_tract(1)	1		Lung NSC(96;0.000705)|Breast(56;0.0011)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;1.06e-08)|COAD - Colon adenocarcinoma(199;0.216)		CCTGTTGGATCTGAGTATGCT	0.413		NA											34	115					4.32e-10	6.34e-10	1	0
RNASE4	6038	broad.mit.edu	37	14	21167749	21167749	+	Silent	SNP	C	C	T			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr14:21167749C>T	uc001vxy.3	+	2	782	c.219C>T	c.(217-219)TTC>TTT	p.F73F	RNASE4_uc001vxx.3_RNA|RNASE4_uc001vya.2_Silent_p.F73F	NM_002937	NP_002928	P34096	RNAS4_HUMAN	ribonuclease, RNase A family, 4 precursor	73					mRNA cleavage	extracellular region	nucleic acid binding|pancreatic ribonuclease activity			central_nervous_system(1)	1	all_cancers(95;0.00304)		Epithelial(56;5.13e-07)|all cancers(55;4.73e-06)	GBM - Glioblastoma multiforme(265;0.0133)		TCAACACCTTCATCCATGAAG	0.478		NA											26	109					0	0	0	0
SOS2	6655	broad.mit.edu	37	14	50655405	50655405	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr14:50655405A>C	uc001wxs.3	-	5	622	c.524T>G	c.(523-525)ATG>AGG	p.M175R	SOS2_uc010tql.1_Missense_Mutation_p.M175R	NM_006939	NP_008870	Q07890	SOS2_HUMAN	son of sevenless homolog 2	175					apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	DNA binding|protein binding|Rho guanyl-nucleotide exchange factor activity			ovary(2)	2	all_epithelial(31;0.000822)|Breast(41;0.0065)					CTGATCAAACATGTCCATCAA	0.313		NA											8	29					0	0	0	0
NIN	51199	broad.mit.edu	37	14	51233551	51233551	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr14:51233551C>G	uc001wym.2	-	13	1683	c.1492G>C	c.(1492-1494)GAG>CAG	p.E498Q	NIN_uc001wyi.2_Missense_Mutation_p.E498Q|NIN_uc001wyj.2_RNA|NIN_uc001wyk.2_Missense_Mutation_p.E498Q|NIN_uc010tqp.1_Missense_Mutation_p.E504Q|NIN_uc001wyo.2_Missense_Mutation_p.E498Q	NM_182946	NP_891991	Q8N4C6	NIN_HUMAN	ninein isoform 5	498	Potential.				centrosome localization	centrosome|microtubule	calcium ion binding|GTP binding|protein binding			skin(3)|ovary(1)|kidney(1)|central_nervous_system(1)	6	all_epithelial(31;0.00244)|Breast(41;0.127)					GTCAGATTCTCATATTCTGCC	0.358		NA	T	PDGFRB	MPD								50	81					0	0	0	0
SLC8A3	6547	broad.mit.edu	37	14	70518746	70518746	+	Silent	SNP	G	G	T			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr14:70518746G>T	uc001xly.2	-	5	2746	c.1992C>A	c.(1990-1992)CCC>CCA	p.P664P	SLC8A3_uc001xlu.2_Silent_p.P21P|SLC8A3_uc001xlv.2_Silent_p.P35P|SLC8A3_uc001xlw.2_Silent_p.P661P|SLC8A3_uc001xlx.2_Silent_p.P662P|SLC8A3_uc001xlz.2_Silent_p.P658P|SLC8A3_uc010ara.2_RNA|SLC8A3_uc001xma.2_Silent_p.P21P	NM_183002	NP_892114	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium	664	Cytoplasmic (Potential).				cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			skin(3)|ovary(2)|breast(2)	7				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		CTTCTAGTTTGGGGTGTTCAC	0.383		NA											27	59					1.74e-05	2.42e-05	1	0
HEATR4	399671	broad.mit.edu	37	14	73989500	73989500	+	Silent	SNP	G	G	A	rs150475805		TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr14:73989500G>A	uc010tub.1	-	3	679	c.357C>T	c.(355-357)TTC>TTT	p.F119F	HEATR4_uc010tua.1_Silent_p.F72F	NM_203309	NP_976054			HEAT repeat containing 4											ovary(1)	1				BRCA - Breast invasive adenocarcinoma(234;0.00386)|OV - Ovarian serous cystadenocarcinoma(108;0.0719)		CCAGGAACTTGAAGCTAACAG	0.488		NA											16	78					0	0	0	0
TJP1	7082	broad.mit.edu	37	15	30008860	30008860	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr15:30008860G>A	uc001zcr.2	-	23	4632	c.4157C>T	c.(4156-4158)CCA>CTA	p.P1386L	TJP1_uc010azl.2_Missense_Mutation_p.P1374L|TJP1_uc001zcq.2_Missense_Mutation_p.P1310L|TJP1_uc001zcs.2_Missense_Mutation_p.P1306L	NM_003257	NP_003248	Q07157	ZO1_HUMAN	tight junction protein 1 isoform a	1386					cell-cell junction assembly|cellular component disassembly involved in apoptosis	basolateral plasma membrane|cell-cell adherens junction|Golgi apparatus|tight junction				ovary(4)|central_nervous_system(1)|pancreas(1)	6		all_lung(180;7.48e-11)|Breast(32;0.000153)		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)		AGAATGCGCTGGCTTTGCAGG	0.408		NA											12	43					0	0	0	0
TRPM1	4308	broad.mit.edu	37	15	31358388	31358388	+	Silent	SNP	G	G	A			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr15:31358388G>A	uc001zfm.2	-	6	743	c.615C>T	c.(613-615)TCC>TCT	p.S205S	TRPM1_uc010azy.2_Silent_p.S118S|TRPM1_uc001zfl.2_RNA|uc010ubm.1_5'Flank|MIR211_hsa-mir-211|MI0000287_5'Flank	NM_002420	NP_002411	Q7Z4N2	TRPM1_HUMAN	transient receptor potential cation channel,	205	Extracellular (Potential).				cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity			ovary(2)|pancreas(1)|skin(1)	4		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		AGTGGGTGTGGGAGTTGTTGA	0.537		NA											16	94					0	0	0	0
AQR	9716	broad.mit.edu	37	15	35189848	35189848	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr15:35189848C>G	uc001ziv.2	-	21	2483	c.2302G>C	c.(2302-2304)GAT>CAT	p.D768H		NM_014691	NP_055506	O60306	AQR_HUMAN	aquarius	768						catalytic step 2 spliceosome	RNA binding			large_intestine(1)	1		Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08)		all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283)		GTGTCTTCATCTTCCACATCC	0.348		NA											19	33					0	0	0	0
FAM82A2	55177	broad.mit.edu	37	15	41030186	41030186	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr15:41030186G>A	uc001zmo.1	-	9	1246	c.1102C>T	c.(1102-1104)CTT>TTT	p.L368F	FAM82A2_uc001zmp.1_Missense_Mutation_p.L368F|FAM82A2_uc001zmq.1_Missense_Mutation_p.L368F	NM_018145	NP_060615	Q96TC7	RMD3_HUMAN	family with sequence similarity 82, member A2	368					apoptosis|cell differentiation	integral to membrane|microtubule|mitochondrial membrane|nucleus|spindle pole	protein binding				0						CTGCCAAGAAGAAAGTGAGCC	0.458		NA											38	164					0	0	0	0
INO80	54617	broad.mit.edu	37	15	41350928	41350928	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr15:41350928G>A	uc001zni.2	-	16	2107	c.1894C>T	c.(1894-1896)CAG>TAG	p.Q632*	INO80_uc010ucu.1_RNA	NM_017553	NP_060023	Q9ULG1	INO80_HUMAN	INO80 complex homolog 1	632	Assembles INO80 complex module consisting of conserved components INO80B, INO80C, ACTR5, RVBL1, RVBL2.|Helicase ATP-binding.				cell division|cellular response to ionizing radiation|cellular response to UV|chromatin remodeling|double-strand break repair via homologous recombination|mitotic sister chromatid segregation|positive regulation of cell growth|positive regulation of DNA replication involved in S phase|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle|spindle assembly|UV-damage excision repair	Ino80 complex|microtubule	actin binding|alpha-tubulin binding|ATP binding|ATPase activity|DNA binding|DNA helicase activity			ovary(2)|pancreas(1)|skin(1)	4						ACCACCAGCTGATAGCTGGTA	0.453		NA											21	71					0	0	0	0
PLA2G4D	283748	broad.mit.edu	37	15	42375422	42375422	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr15:42375422C>G	uc001zox.2	-	8	741	c.646G>C	c.(646-648)GAG>CAG	p.E216Q		NM_178034	NP_828848	Q86XP0	PA24D_HUMAN	phospholipase A2, group IVD	216					phospholipid catabolic process	cytoplasmic vesicle membrane|cytosol	metal ion binding|phospholipase A2 activity			large_intestine(1)|skin(1)	2		all_cancers(109;6.37e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.019)|Ovarian(310;0.143)|Colorectal(260;0.245)		OV - Ovarian serous cystadenocarcinoma(18;4.9e-17)|GBM - Glioblastoma multiforme(94;1.02e-06)		AGCTCTGTCTCTAGGGCTGCC	0.632		NA											10	37					0	0	0	0
UNC13C	440279	broad.mit.edu	37	15	54305735	54305735	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr15:54305735A>T	uc002ack.2	+	1	635	c.635A>T	c.(634-636)AAG>ATG	p.K212M		NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN	unc-13 homolog C	212					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			ovary(5)|pancreas(2)	7				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		ATAAGAAGTAAGTCTTTGGAC	0.438		NA											23	96					0	0	0	0
RAB8B	51762	broad.mit.edu	37	15	63481934	63481934	+	Silent	SNP	C	C	T			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr15:63481934C>T	uc002alz.2	+	1	207	c.111C>T	c.(109-111)TTC>TTT	p.F37F	RAB8B_uc010uih.1_Silent_p.F37F	NM_016530	NP_057614	Q92930	RAB8B_HUMAN	RAB8B, member RAS oncogene family	37	Effector region (By similarity).				protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity			ovary(1)|kidney(1)	2						ACACCACCTTCATCTCCACCA	0.468		NA											9	35					0	0	0	0
SLC24A1	9187	broad.mit.edu	37	15	65916745	65916745	+	Silent	SNP	G	G	A			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr15:65916745G>A	uc010ujf.1	+	2	614	c.327G>A	c.(325-327)GAG>GAA	p.E109E	SLC24A1_uc010ujd.1_Silent_p.E109E|SLC24A1_uc010uje.1_Silent_p.E109E|SLC24A1_uc010ujg.1_Silent_p.E109E|SLC24A1_uc010ujh.1_Silent_p.E109E	NM_004727	NP_004718	O60721	NCKX1_HUMAN	solute carrier family 24	109	Extracellular (Potential).				response to light intensity|visual perception	integral to plasma membrane|membrane fraction|outer membrane	calcium, potassium:sodium antiporter activity|protein binding|symporter activity				0						TGACAGTGGAGAATATCCCCA	0.493		NA											4	21					0	0	0	0
SLC24A1	9187	broad.mit.edu	37	15	65918077	65918077	+	Silent	SNP	C	C	T			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr15:65918077C>T	uc010ujf.1	+	2	1946	c.1659C>T	c.(1657-1659)CTC>CTT	p.L553L	SLC24A1_uc010ujd.1_Silent_p.L553L|SLC24A1_uc010uje.1_Silent_p.L553L|SLC24A1_uc010ujg.1_Silent_p.L553L|SLC24A1_uc010ujh.1_Silent_p.L553L	NM_004727	NP_004718	O60721	NCKX1_HUMAN	solute carrier family 24	553	Cytoplasmic (Potential).				response to light intensity|visual perception	integral to plasma membrane|membrane fraction|outer membrane	calcium, potassium:sodium antiporter activity|protein binding|symporter activity				0						TCCTCAACCTCACCTGGTGGC	0.517		NA											25	104					0	0	0	0
SGK269	79834	broad.mit.edu	37	15	77473623	77473623	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr15:77473623C>G	uc002bcm.2	-	3	954	c.646G>C	c.(646-648)GAA>CAA	p.E216Q	SGK269_uc002bcn.2_Missense_Mutation_p.E216Q	NM_024776	NP_079052	Q9H792	PEAK1_HUMAN	NKF3 kinase family member	216					cell migration|protein autophosphorylation|substrate adhesion-dependent cell spreading	actin cytoskeleton|cytoplasm|focal adhesion	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding				0				STAD - Stomach adenocarcinoma(199;0.124)		CTAATCACTTCTGTGCTCCCA	0.458		NA											34	126					0	0	0	0
ZNF710	374655	broad.mit.edu	37	15	90616485	90616485	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr15:90616485C>A	uc002bov.1	+	3	1764	c.1641C>A	c.(1639-1641)TTC>TTA	p.F547L		NM_198526	NP_940928	Q8N1W2	ZN710_HUMAN	zinc finger protein 710	547	C2H2-type 10.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)	1	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		BRCA - Breast invasive adenocarcinoma(143;0.00769)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.129)			TGAAGCCATTCAAATGCAAGG	0.602		NA											14	58					1.15e-07	1.65e-07	1	0
PRC1	9055	broad.mit.edu	37	15	91522476	91522476	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr15:91522476C>T	uc002bqm.2	-	8	1176	c.1019G>A	c.(1018-1020)CGG>CAG	p.R340Q	PRC1_uc002bqn.2_Missense_Mutation_p.R340Q|PRC1_uc002bqo.2_Missense_Mutation_p.R340Q|PRC1_uc010uqs.1_Missense_Mutation_p.R299Q	NM_003981	NP_003972	O43663	PRC1_HUMAN	protein regulator of cytokinesis 1 isoform 1	340	Dimerization.				cytokinesis|mitotic spindle elongation	cytoplasm|nucleus|spindle microtubule|spindle pole	protein binding			ovary(1)|skin(1)	2	Lung NSC(78;0.0987)|all_lung(78;0.175)					GTTTTTTAACCGCACAATCTC	0.413		NA											8	66					0	0	0	0
IFT140	9742	broad.mit.edu	37	16	1614075	1614075	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr16:1614075C>T	uc002cmb.2	-	17	2352	c.1990G>A	c.(1990-1992)GAA>AAA	p.E664K	IFT140_uc002clz.2_Missense_Mutation_p.E315K	NM_014714	NP_055529	Q96RY7	IF140_HUMAN	intraflagellar transport 140	664										ovary(3)|pancreas(1)|skin(1)	5		Hepatocellular(780;0.219)				TGCACGGCTTCGCATACAAAC	0.577		NA											14	58					0	0	0	0
BTBD12	84464	broad.mit.edu	37	16	3656656	3656656	+	Missense_Mutation	SNP	C	C	G	rs148887586		TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr16:3656656C>G	uc002cvp.2	-	3	1206	c.579G>C	c.(577-579)TTG>TTC	p.L193F	BTBD12_uc002cvq.1_Missense_Mutation_p.L193F	NM_032444	NP_115820	Q8IY92	SLX4_HUMAN	BTB (POZ) domain containing 12	193	Interaction with C20orf94, ERCC4 and MSH2.				DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair	Slx1-Slx4 complex	enzyme activator activity|protein binding				0						CTGCTGTTGTCAAACAGGAAG	0.512		NA						Direct_reversal_of_damage|Homologous_recombination	Fanconi_Anemia				41	143					0	0	0	0
PLK1	5347	broad.mit.edu	37	16	23698820	23698820	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr16:23698820G>A	uc002dlz.1	+	6	1120	c.1067G>A	c.(1066-1068)CGG>CAG	p.R356Q		NM_005030	NP_005021	P53350	PLK1_HUMAN	polo-like kinase 1	356					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|G2/M transition DNA damage checkpoint|G2/M transition of mitotic cell cycle|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic prophase|negative regulation of cyclin-dependent protein kinase activity|peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein destabilization|protein localization to chromatin|protein ubiquitination|regulation of mitotic anaphase|regulation of protein binding	centrosome|condensed nuclear chromosome outer kinetochore|cytosol|nucleoplasm|spindle microtubule|spindle midzone|spindle pole	anaphase-promoting complex binding|ATP binding|polo kinase kinase activity|protein kinase binding			lung(1)|skin(1)	2				GBM - Glioblastoma multiforme(48;0.0156)		GAGCGTCCCCGGGAAAAAGAA	0.592		NA											10	136					0	0	0	0
RABEP2	79874	broad.mit.edu	37	16	28925721	28925721	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr16:28925721C>T	uc002drq.2	-	5	778	c.730G>A	c.(730-732)GGC>AGC	p.G244S	uc010vct.1_Intron|RABEP2_uc010vdf.1_Missense_Mutation_p.G173S|RABEP2_uc010byn.2_Missense_Mutation_p.G244S|RABEP2_uc002drr.2_Missense_Mutation_p.G244S	NM_024816	NP_079092	Q9H5N1	RABE2_HUMAN	rabaptin, RAB GTPase binding effector protein 2	244					endocytosis|protein transport	early endosome	growth factor activity|GTPase activator activity			ovary(1)|breast(1)|skin(1)	3						GAGCTGCTGCCGACCCCACCG	0.672		NA											10	35					0	0	0	0
FHOD1	29109	broad.mit.edu	37	16	67272351	67272351	+	Splice_Site	SNP	C	C	T			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr16:67272351C>T	uc002esl.2	-	4	486	c.374_splice	c.e4-1	p.E125_splice	FHOD1_uc010ced.2_5'UTR|FHOD1_uc010vjh.1_5'UTR	NM_013241	NP_037373	Q9Y613	FHOD1_HUMAN	formin homology 2 domain containing 1						actin cytoskeleton organization	cytoplasm|cytoskeleton|nucleus	actin binding			breast(2)|ovary(1)	3		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434)		TACAGCTTTTCTGCAAAAGGT	0.502		NA											4	21					0	0	0	0
C16orf46	123775	broad.mit.edu	37	16	81095518	81095518	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr16:81095518C>T	uc002fgc.3	-	4	695	c.436G>A	c.(436-438)GCA>ACA	p.A146T	C16orf46_uc010chf.2_Missense_Mutation_p.A146T|C16orf46_uc010vno.1_5'UTR	NM_152337	NP_689550	Q6P387	CP046_HUMAN	chromosome 16 open reading frame 46 isoform 2	146											0						TCGCTAATTGCCCTGGAAGCA	0.572		NA											5	188					0	0	0	0
CTNS	1497	broad.mit.edu	37	17	3550808	3550808	+	Silent	SNP	C	C	T			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr17:3550808C>T	uc002fwb.2	+	4	725	c.132C>T	c.(130-132)CTC>CTT	p.L44L	CTNS_uc002fwa.2_Silent_p.L44L|CTNS_uc010ckj.2_Silent_p.L44L|CTNS_uc010vrv.1_Intron|CTNS_uc010vrw.1_Intron	NM_004937	NP_004928	O60931	CTNS_HUMAN	cystinosin isoform 2	44	Lumenal (Potential).				ATP metabolic process|brain development|cognition|glutathione metabolic process	integral to membrane|late endosome|lysosomal membrane	L-cystine transmembrane transporter activity				0				COAD - Colon adenocarcinoma(5;0.0829)	L-Cystine(DB00138)	ACGTCAGCCTCACCCTGCGGT	0.602		NA											7	27					0	0	0	0
SPNS2	124976	broad.mit.edu	37	17	4436304	4436304	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr17:4436304C>T	uc002fxx.2	+	7	1182	c.968C>T	c.(967-969)TCG>TTG	p.S323L		NM_001124758	NP_001118230	Q8IVW8	SPNS2_HUMAN	spinster homolog 2	323	Helical; (Potential).				lipid transport|transmembrane transport	integral to membrane					0						CTGGCCACGTCGGCTGTCTCC	0.662		NA											15	51					0	0	0	0
ZFP3	124961	broad.mit.edu	37	17	4996049	4996049	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr17:4996049G>T	uc002gaq.2	+	2	1375	c.1250G>T	c.(1249-1251)GGA>GTA	p.G417V		NM_153018	NP_694563	Q96NJ6	ZFP3_HUMAN	zinc finger protein-3	417					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						ATTCATACTGGAGAGAAACCC	0.428		NA											15	63					2.62e-11	3.89e-11	1	0
ALOX12	239	broad.mit.edu	37	17	6905118	6905118	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr17:6905118C>A	uc002gdx.3	+	8	1202	c.1149C>A	c.(1147-1149)CAC>CAA	p.H383Q	uc002gdy.1_RNA	NM_000697	NP_000688	P18054	LOX12_HUMAN	arachidonate 12-lipoxygenase	383	Lipoxygenase.				anti-apoptosis|cellular component movement|fatty acid oxidation|leukotriene biosynthetic process|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of cell proliferation|superoxide anion generation	cytosol|sarcolemma	arachidonate 12-lipoxygenase activity|hepoxilin-epoxide hydrolase activity|iron ion binding|lipoxygenase activity|protein binding			central_nervous_system(1)	1						CAGGACTGCACCCCATCTTCA	0.488		NA											16	68					6.32e-08	9.11e-08	1	0
TP53	7157	broad.mit.edu	37	17	7576855	7576855	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr17:7576855G>A	uc002gim.2	-	9	1185	c.991C>T	c.(991-993)CAG>TAG	p.Q331*	TP53_uc002gig.1_Intron|TP53_uc002gih.2_Nonsense_Mutation_p.Q331*|TP53_uc010cne.1_RNA|TP53_uc010cnf.1_Nonsense_Mutation_p.Q199*|TP53_uc010cng.1_Nonsense_Mutation_p.Q199*|TP53_uc002gii.1_Nonsense_Mutation_p.Q199*|TP53_uc010cnh.1_Nonsense_Mutation_p.Q331*|TP53_uc010cni.1_Nonsense_Mutation_p.Q331*|TP53_uc002gij.2_Nonsense_Mutation_p.Q331*	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	331	Oligomerization.|Interaction with HIPK1 (By similarity).|Interaction with CARM1.|Interaction with HIPK2.		Q -> R (in sporadic cancers; somatic mutation).|Q -> P (in sporadic cancers; somatic mutation).|Q -> H (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.Q331*(14)|p.0?(7)|p.Q331P(3)|p.Q331fs*6(1)|p.?(1)|p.Q331Q(1)|p.Q331R(1)|p.Q331H(1)|p.Q331fs*14(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)		CTTAGTACCTGAAGGGTGAAA	0.448		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)			12	51					0	0	0	0
TP53	7157	broad.mit.edu	37	17	7578212	7578212	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr17:7578212G>A	uc002gim.2	-	6	831	c.637C>T	c.(637-639)CGA>TGA	p.R213*	TP53_uc002gig.1_Nonsense_Mutation_p.R213*|TP53_uc002gih.2_Nonsense_Mutation_p.R213*|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Nonsense_Mutation_p.R81*|TP53_uc010cng.1_Nonsense_Mutation_p.R81*|TP53_uc002gii.1_Nonsense_Mutation_p.R81*|TP53_uc010cnh.1_Nonsense_Mutation_p.R213*|TP53_uc010cni.1_Nonsense_Mutation_p.R213*|TP53_uc002gij.2_Nonsense_Mutation_p.R213*|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Nonsense_Mutation_p.R120*|TP53_uc002gio.2_Nonsense_Mutation_p.R81*|TP53_uc010vug.1_Nonsense_Mutation_p.R174*	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	213	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		R -> L (in sporadic cancers; somatic mutation).|R -> W (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and 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.R213*(186)|p.R213L(25)|p.R213Q(22)|p.R213fs*34(10)|p.0?(7)|p.R213P(5)|p.R81*(2)|p.R120*(2)|p.R213G(2)|p.K164_P219del(1)|p.D208_V216delDRNTFRHSV(1)|p.D207_R213delDDRNTFR(1)|p.T211_S215delTFRHS(1)|p.R213*33(1)|p.D208fs*1(1)|p.R213>L(1)|p.R209_R213delRNTFR(1)|p.R213fs*2(1)|p.T211fs*28(1)|p.R213_S215>X(1)|p.D207_V216del10(1)|p.R213R(1)|p.R213fs*32(1)|p.R209fs*6(1)|p.R213W(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)		ACACTATGTCGAAAAGTGTTT	0.532		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)			8	25					0	0	0	0
PIK3R5	23533	broad.mit.edu	37	17	8790443	8790443	+	Silent	SNP	G	G	C			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr17:8790443G>C	uc002glt.2	-	12	1942	c.1875C>G	c.(1873-1875)CTC>CTG	p.L625L	PIK3R5_uc010vuz.1_Silent_p.L625L|PIK3R5_uc002glu.3_Silent_p.L239L	NM_014308	NP_055123	Q8WYR1	PI3R5_HUMAN	phosphoinositide-3-kinase, regulatory subunit 5	625					platelet activation	cytosol|membrane|nucleus				breast(2)|large_intestine(1)|central_nervous_system(1)|skin(1)	5						GCAGGTGCATGAGGCCCAGTA	0.622		NA											8	37					0	0	0	0
ZNF624	57547	broad.mit.edu	37	17	16527194	16527194	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr17:16527194C>T	uc010cpi.1	-	6	1089	c.1006G>A	c.(1006-1008)GAA>AAA	p.E336K		NM_020787	NP_065838	Q9P2J8	ZN624_HUMAN	zinc finger protein 624	336	C2H2-type 3.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)|ovary(1)	2				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		TTTCCACATTCATTACATTTA	0.368		NA											24	79					0	0	0	0
MPRIP	23164	broad.mit.edu	37	17	17061836	17061836	+	Silent	SNP	G	G	A			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr17:17061836G>A	uc002gqu.1	+	14	1622	c.1566G>A	c.(1564-1566)CCG>CCA	p.P522P	MPRIP_uc002gqv.1_Silent_p.P522P|MPRIP_uc002gqw.1_Silent_p.P277P	NM_201274	NP_958431	Q6WCQ1	MPRIP_HUMAN	myosin phosphatase-Rho interacting protein	522						cytoplasm|cytoskeleton	actin binding				0						TGGGGGAGCCGGACCCTGAGC	0.632		NA											9	42					0	0	0	0
ULK2	9706	broad.mit.edu	37	17	19748690	19748690	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr17:19748690G>A	uc002gwm.3	-	7	979	c.470C>T	c.(469-471)GCG>GTG	p.A157V	ULK2_uc002gwn.2_Missense_Mutation_p.A157V	NM_001142610	NP_001136082	Q8IYT8	ULK2_HUMAN	unc-51-like kinase 2	157	Protein kinase.				signal transduction		ATP binding|protein binding|protein serine/threonine kinase activity			skin(2)|large_intestine(1)|stomach(1)	4	all_cancers(12;4.97e-05)|all_epithelial(12;0.00362)|Breast(13;0.186)					ACCAAAATCCGCTATTTCACA	0.413		NA											8	22					0	0	0	0
GAS2L2	246176	broad.mit.edu	37	17	34072759	34072759	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr17:34072759C>T	uc002hjv.1	-	6	1785	c.1757G>A	c.(1756-1758)CGG>CAG	p.R586Q		NM_139285	NP_644814	Q8NHY3	GA2L2_HUMAN	growth arrest-specific 2 like 2	586					cell cycle arrest	cytoplasm|cytoskeleton				ovary(1)|skin(1)	2		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		AGGTGTGTACCGCCCCTCCTG	0.582		NA											20	90					0	0	0	0
PTRF	284119	broad.mit.edu	37	17	40557194	40557194	+	Silent	SNP	G	G	A			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr17:40557194G>A	uc002hzo.2	-	2	843	c.684C>T	c.(682-684)CGC>CGT	p.R228R	PTRF_uc010wgi.1_Silent_p.R210R	NM_012232	NP_036364	Q6NZI2	PTRF_HUMAN	polymerase I and transcript release factor	228	Potential.				regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription initiation from RNA polymerase I promoter	caveola|cytosol|endoplasmic reticulum|microsome|mitochondrion|nucleoplasm	protein binding|rRNA primary transcript binding			breast(1)	1		all_cancers(22;0.00146)|Breast(137;0.00116)|all_epithelial(22;0.0134)		BRCA - Breast invasive adenocarcinoma(366;0.193)		AGTCGTCCACGCGCCGCAGGC	0.612		NA											27	111					0	0	0	0
WNK4	65266	broad.mit.edu	37	17	40940726	40940726	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr17:40940726G>C	uc002ibj.2	+	11	2089	c.2068G>C	c.(2068-2070)GAG>CAG	p.E690Q	WNK4_uc010wgx.1_Missense_Mutation_p.E354Q|WNK4_uc002ibk.1_Missense_Mutation_p.E462Q|WNK4_uc010wgy.1_Missense_Mutation_p.E34Q	NM_032387	NP_115763	Q96J92	WNK4_HUMAN	WNK lysine deficient protein kinase 4	690					intracellular protein kinase cascade	tight junction	ATP binding|protein serine/threonine kinase activity			ovary(3)|skin(3)|stomach(1)	7		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		CAGAGTGGTTGAGTGCCAGCT	0.542		NA											14	43					0	0	0	0
SMARCD2	6603	broad.mit.edu	37	17	61910724	61910724	+	Silent	SNP	G	G	C			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr17:61910724G>C	uc010deb.1	-	11	1691	c.1374C>G	c.(1372-1374)CTC>CTG	p.L458L	SMARCD2_uc010wpt.1_Silent_p.L410L|SMARCD2_uc010dea.1_Silent_p.L383L|SMARCD2_uc010dec.1_Silent_p.L437L	NM_001098426	NP_001091896	Q92925	SMRD2_HUMAN	SWI/SNF-related matrix-associated	458					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	SWI/SNF complex	protein binding|transcription coactivator activity				0						TGCTAAAACTGAGCATGAAAT	0.537		NA											23	64					0	0	0	0
LLGL2	3993	broad.mit.edu	37	17	73564865	73564865	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr17:73564865G>C	uc002joh.2	+	12	1421	c.1267G>C	c.(1267-1269)GAT>CAT	p.D423H	LLGL2_uc002joi.2_Missense_Mutation_p.D423H|LLGL2_uc010dgg.1_Missense_Mutation_p.D423H|LLGL2_uc002joj.2_Missense_Mutation_p.D412H|LLGL2_uc010wsd.1_Missense_Mutation_p.D50H	NM_001031803	NP_001026973	Q6P1M3	L2GL2_HUMAN	lethal giant larvae homolog 2 isoform c	423	WD 8.				cell cycle|cell division|exocytosis|regulation of establishment or maintenance of cell polarity	cytoplasm|intracellular membrane-bounded organelle	PDZ domain binding			ovary(2)	2	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112)			GTGGCCAATTGATGGTGGCAC	0.597		NA											6	40					0	0	0	0
ANKRD12	23253	broad.mit.edu	37	18	9255172	9255172	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr18:9255172C>T	uc002knv.2	+	9	2164	c.1907C>T	c.(1906-1908)TCA>TTA	p.S636L	ANKRD12_uc002knw.2_Missense_Mutation_p.S613L|ANKRD12_uc002knx.2_Missense_Mutation_p.S613L|ANKRD12_uc010dkx.1_Missense_Mutation_p.S343L	NM_015208	NP_056023	Q6UB98	ANR12_HUMAN	ankyrin repeat domain 12 isoform 1	636						nucleus				ovary(2)|central_nervous_system(1)	3						TTTGAAAATTcagattgcaca	0.144		NA											14	51					0	0	0	0
GNAL	2774	broad.mit.edu	37	18	11752499	11752499	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr18:11752499G>A	uc010dkz.2	+	2	313	c.67G>A	c.(67-69)GAG>AAG	p.E23K	GNAL_uc002kqc.2_Intron|GNAL_uc002kqd.2_Missense_Mutation_p.E23K	NM_001142339	NP_001135811	P38405	GNAL_HUMAN	guanine nucleotide binding protein (G protein),	23					activation of adenylate cyclase activity by dopamine receptor signaling pathway|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception of smell|synaptic transmission	heterotrimeric G-protein complex	adenylate cyclase activity|G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity			ovary(1)	1						AGAACGACGCGAGGCCAACAA	0.612		NA											18	71					0	0	0	0
SYT4	6860	broad.mit.edu	37	18	40853923	40853923	+	Silent	SNP	G	G	C			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr18:40853923G>C	uc002law.2	-	2	840	c.471C>G	c.(469-471)CTC>CTG	p.L157L	SYT4_uc010dng.2_Intron|SYT4_uc010xcm.1_Silent_p.L139L|SYT4_uc010dnh.2_Intron	NM_020783	NP_065834	Q9H2B2	SYT4_HUMAN	synaptotagmin IV	157	Phospholipid binding (Probable).|C2 1.|Cytoplasmic (Potential).					cell junction|integral to membrane|synaptic vesicle membrane	transporter activity			skin(5)	5						AGGAGAAGAAGAGAGTTCCCA	0.453		NA											5	33					0	0	0	0
ZBTB7C	201501	broad.mit.edu	37	18	45566526	45566526	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr18:45566526G>A	uc002lda.2	-	1	969	c.953C>T	c.(952-954)CCG>CTG	p.P318L	ZBTB7C_uc002ldb.2_Missense_Mutation_p.P318L|ZBTB7C_uc010dnu.2_Missense_Mutation_p.P327L|ZBTB7C_uc010dnv.2_Missense_Mutation_p.P340L|ZBTB7C_uc010dnw.2_Missense_Mutation_p.P318L|ZBTB7C_uc010dnx.1_Missense_Mutation_p.P318L|ZBTB7C_uc010dny.1_Missense_Mutation_p.P318L|ZBTB7C_uc010dnz.1_Missense_Mutation_p.P340L|ZBTB7C_uc010dob.1_Missense_Mutation_p.P318L|ZBTB7C_uc010doc.1_Missense_Mutation_p.P327L|ZBTB7C_uc010dod.1_Missense_Mutation_p.P340L|ZBTB7C_uc010doe.1_Missense_Mutation_p.P318L|ZBTB7C_uc010dof.1_Missense_Mutation_p.P318L|ZBTB7C_uc010dog.1_Missense_Mutation_p.P318L|ZBTB7C_uc010doh.1_Missense_Mutation_p.P327L|ZBTB7C_uc010doi.1_Missense_Mutation_p.P318L|ZBTB7C_uc010doj.1_Missense_Mutation_p.P327L|ZBTB7C_uc010dok.1_Missense_Mutation_p.P367L|ZBTB7C_uc010dol.1_Missense_Mutation_p.P327L|ZBTB7C_uc010doa.1_Missense_Mutation_p.P340L|ZBTB7C_uc010don.1_Missense_Mutation_p.P326L|ZBTB7C_uc010doo.1_Missense_Mutation_p.P318L|ZBTB7C_uc010dop.1_Missense_Mutation_p.P318L|ZBTB7C_uc010doq.1_Missense_Mutation_p.P327L|ZBTB7C_uc010dor.1_Missense_Mutation_p.P340L|ZBTB7C_uc010dos.1_Missense_Mutation_p.P318L|ZBTB7C_uc010dot.1_Missense_Mutation_p.P318L|ZBTB7C_uc010dou.1_Missense_Mutation_p.P327L|ZBTB7C_uc010dom.1_Missense_Mutation_p.P327L	NM_001039360	NP_001034449	A1YPR0	ZBT7C_HUMAN	zinc finger and BTB domain containing 7C	318	Pro-rich.					intracellular	nucleic acid binding|zinc ion binding			ovary(1)	1						AGGCCCCCCCGGCAGGTCAGG	0.617		NA											4	61					0	0	0	0
GRP	2922	broad.mit.edu	37	18	56897646	56897646	+	Silent	SNP	C	C	G			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr18:56897646C>G	uc002lhv.2	+	3	491	c.393C>G	c.(391-393)CTC>CTG	p.L131L	GRP_uc002lhu.2_Missense_Mutation_p.S125C|GRP_uc002lhw.2_Intron	NM_002091	NP_002082	P07492	GRP_HUMAN	gastrin-releasing peptide isoform 1	131					neuropeptide signaling pathway	extracellular space	neuropeptide hormone activity				0		Colorectal(73;0.0946)				TTGGTAGACTCTCTGCTCCAG	0.393		NA											13	59					0	0	0	0
DNMT1	1786	broad.mit.edu	37	19	10254621	10254621	+	Silent	SNP	G	G	A	rs150359172	by1000genomes	TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr19:10254621G>A	uc002mng.2	-	28	3069	c.2889C>T	c.(2887-2889)CCC>CCT	p.P963P	DNMT1_uc002mnf.2_5'UTR|DNMT1_uc010xlc.1_Silent_p.P979P|DNMT1_uc002mnh.2_Silent_p.P858P|DNMT1_uc010xld.1_Silent_p.P963P	NM_001379	NP_001370	P26358	DNMT1_HUMAN	DNA (cytosine-5-)-methyltransferase 1 isoform b	963					chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding			ovary(2)|prostate(1)|lung(1)|breast(1)|skin(1)	6			OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035)	CCTCATCCACGGGCTCCTTCC	0.562		NA											25	141					0	0	0	0
LDLR	3949	broad.mit.edu	37	19	11213447	11213447	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr19:11213447G>C	uc002mqk.3	+	3	466	c.298G>C	c.(298-300)GAC>CAC	p.D100H	LDLR_uc010xlk.1_Missense_Mutation_p.D100H|LDLR_uc010xll.1_Intron|LDLR_uc010xlm.1_Intron|LDLR_uc010xln.1_Missense_Mutation_p.D100H|LDLR_uc010xlo.1_Missense_Mutation_p.D100H	NM_000527	NP_000518	P01130	LDLR_HUMAN	low density lipoprotein receptor precursor	100	Extracellular (Potential).|LDL-receptor class A 2.				cholesterol homeostasis|cholesterol metabolic process|interspecies interaction between organisms|intestinal cholesterol absorption|low-density lipoprotein particle clearance|receptor-mediated endocytosis	clathrin-coated endocytic vesicle membrane|coated pit|early endosome|endosome membrane|external side of plasma membrane|integral to plasma membrane|low-density lipoprotein particle|lysosome	calcium ion binding|low-density lipoprotein receptor activity|protein binding|very-low-density lipoprotein particle receptor activity			ovary(2)|skin(2)	4		Lung NSC(9;0.000245)|Renal(1328;0.0007)|Hepatocellular(1079;0.0524)		GBM - Glioblastoma multiforme(1328;1.36e-05)|STAD - Stomach adenocarcinoma(1328;0.000766)|Lung(535;0.197)	Methyl aminolevulinate(DB00992)|Porfimer(DB00707)	CAACGGCTCAGACGAGCAAGG	0.592		NA											14	85					0	0	0	0
MAN2B1	4125	broad.mit.edu	37	19	12776262	12776262	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr19:12776262G>A	uc002mub.2	-	3	416	c.340C>T	c.(340-342)CGT>TGT	p.R114C	MAN2B1_uc010dyv.1_Missense_Mutation_p.R114C|WDR83_uc002mue.3_5'Flank|WDR83_uc002muc.2_5'Flank	NM_000528	NP_000519	O00754	MA2B1_HUMAN	mannosidase, alpha, class 2B, member 1	114					protein deglycosylation	lysosome	alpha-mannosidase activity|zinc ion binding			ovary(4)|central_nervous_system(2)	6						ATGAAGCGACGGGTGGGATCT	0.557		NA											25	93					0	0	0	0
SLC1A6	6511	broad.mit.edu	37	19	15061151	15061151	+	Silent	SNP	G	G	T	rs143528996		TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr19:15061151G>T	uc002naa.1	-	9	1559	c.1551C>A	c.(1549-1551)GCC>GCA	p.A517A	SLC1A6_uc010dzu.1_Silent_p.A439A|SLC1A6_uc010xod.1_Silent_p.A453A	NM_005071	NP_005062	P48664	EAA4_HUMAN	solute carrier family 1 (high affinity	517					synaptic transmission	integral to plasma membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|L-aspartate transmembrane transporter activity|sodium:dicarboxylate symporter activity			pancreas(3)|ovary(2)|skin(1)	6					L-Glutamic Acid(DB00142)	GCTCGATGACGGCCGCTCCAA	0.567		NA											16	49					3.46e-05	4.8e-05	1	0
ZNF430	80264	broad.mit.edu	37	19	21240040	21240040	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr19:21240040G>C	uc002npj.2	+	5	1036	c.926G>C	c.(925-927)AGA>ACA	p.R309T	ZNF430_uc002npk.2_Missense_Mutation_p.R308T	NM_025189	NP_079465	Q9H8G1	ZN430_HUMAN	zinc finger protein 430	309	C2H2-type 4.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(2)	2						ACACATAAAAGAATTCATACT	0.398		NA											21	75					0	0	0	0
ZNF714	148206	broad.mit.edu	37	19	21300910	21300910	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr19:21300910C>G	uc002npo.3	+	6	1803	c.1443C>G	c.(1441-1443)TAC>TAG	p.Y481*	ZNF714_uc002npl.2_Nonsense_Mutation_p.Y326*|ZNF714_uc010ecp.1_Nonsense_Mutation_p.Y432*|ZNF714_uc002npn.2_RNA	NM_182515	NP_872321	Q96N38	ZN714_HUMAN	zinc finger protein 714	481	C2H2-type 14; degenerate.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						AGAAATCTTACAAATGTGAAG	0.294		NA											10	35					0	0	0	0
ZNF676	163223	broad.mit.edu	37	19	22363886	22363886	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr19:22363886G>C	uc002nqs.1	-	3	951	c.633C>G	c.(631-633)ATC>ATG	p.I211M		NM_001001411	NP_001001411	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	211	C2H2-type 2.			KFSILTKHKVIHT -> WSSSLTEHKRIHA (in Ref. 2; BAC05174).	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				GTTTAGTAAGGATTGAGAACT	0.353		NA											14	78					0	0	0	0
ZNF536	9745	broad.mit.edu	37	19	30935952	30935952	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr19:30935952G>A	uc002nsu.1	+	2	1621	c.1483G>A	c.(1483-1485)GTG>ATG	p.V495M	ZNF536_uc010edd.1_Missense_Mutation_p.V495M	NM_014717	NP_055532	O15090	ZN536_HUMAN	zinc finger protein 536	495					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			ovary(7)|large_intestine(2)|skin(2)	11	Esophageal squamous(110;0.0834)					CCTCAATCTCGTGCCGCCGCT	0.657		NA											18	66					0	0	0	0
FBXO46	23403	broad.mit.edu	37	19	46215504	46215504	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr19:46215504T>C	uc002pcy.2	-	2	1375	c.1250A>G	c.(1249-1251)GAC>GGC	p.D417G	FBXO46_uc002pcz.2_Missense_Mutation_p.D417G	NM_001080469	NP_001073938	Q6PJ61	FBX46_HUMAN	F-box protein 46	417							protein binding			ovary(1)|lung(1)|breast(1)	3		Ovarian(192;0.179)|all_neural(266;0.224)		OV - Ovarian serous cystadenocarcinoma(262;0.00568)|GBM - Glioblastoma multiforme(486;0.0844)|Epithelial(262;0.201)		CGGGGGCCCGTCCGGCCCGCG	0.726		NA											10	22					0	0	0	0
IL4I1	259307	broad.mit.edu	37	19	50393181	50393181	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr19:50393181C>T	uc002pqt.1	-	8	1528	c.1450G>A	c.(1450-1452)GCC>ACC	p.A484T	IL4I1_uc002pqv.1_Missense_Mutation_p.A493T|IL4I1_uc010eno.1_Missense_Mutation_p.A492T|IL4I1_uc002pqw.1_Missense_Mutation_p.A492T|IL4I1_uc002pqu.1_Missense_Mutation_p.A506T	NM_152899	NP_690863	Q96RQ9	OXLA_HUMAN	interleukin 4 induced 1 isoform 1 precursor	484						lysosome	L-amino-acid oxidase activity			lung(1)|ovary(1)|prostate(1)	3		all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00245)|OV - Ovarian serous cystadenocarcinoma(262;0.0169)		TGCGGGTAGGCGGTGTGCTCG	0.667		NA									OREG0025629	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	18					0	0	0	0
NAPSA	9476	broad.mit.edu	37	19	50862816	50862816	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr19:50862816C>T	uc002prx.2	-	7	933	c.880G>A	c.(880-882)GAG>AAG	p.E294K	NR1H2_uc002prv.3_Intron	NM_004851	NP_004842	O96009	NAPSA_HUMAN	napsin A preproprotein	294					proteolysis	extracellular region	aspartic-type endopeptidase activity				0		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00743)|GBM - Glioblastoma multiforme(134;0.0183)		CGGATCTCCTCAGTGGGTCCT	0.647		NA											14	51					0	0	0	0
NLRP12	91662	broad.mit.edu	37	19	54318203	54318203	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr19:54318203G>A	uc002qch.3	-	2	549	c.329C>T	c.(328-330)TCA>TTA	p.S110L	NLRP12_uc002qci.3_Missense_Mutation_p.S110L|NLRP12_uc002qcj.3_Missense_Mutation_p.S110L|NLRP12_uc002qck.3_RNA|NLRP12_uc010eqx.2_Missense_Mutation_p.S110L	NM_144687	NP_653288	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12 isoform	110					negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding			ovary(4)|upper_aerodigestive_tract(2)|lung(1)	7	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		AAGGCATGTTGACTGGTTCCC	0.517		NA											26	78					0	0	0	0
ZSCAN5B	342933	broad.mit.edu	37	19	56701579	56701579	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr19:56701579G>T	uc010ygh.1	-	4	1105	c.1105C>A	c.(1105-1107)CAG>AAG	p.Q369K		NM_001080456	NP_001073925	A6NJL1	ZSA5B_HUMAN	zinc finger and SCAN domain containing 5B	369	C2H2-type 1.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|skin(1)	2						ATGCTTAGCTGGGAAAAATAC	0.547		NA											19	54					6.5e-13	9.72e-13	1	0
AURKC	6795	broad.mit.edu	37	19	57746747	57746747	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr19:57746747C>T	uc002qoe.2	+	7	1081	c.892C>T	c.(892-894)CGA>TGA	p.R298*	AURKC_uc002qoc.2_Nonsense_Mutation_p.R279*|AURKC_uc002qod.2_Nonsense_Mutation_p.R264*|AURKC_uc010etv.2_Nonsense_Mutation_p.R295*	NM_001015878	NP_001015878	Q9UQB9	AURKC_HUMAN	aurora kinase C isoform 1	298					cell cycle|cytokinesis	condensed chromosome|cytoplasm|midbody|spindle midzone	ATP binding|protein serine/threonine kinase activity			lung(4)|ovary(2)	6		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0122)		GGCCCACTCCCGAAGGGTGCT	0.622		NA											21	75					0	0	0	0
C2orf50	130813	broad.mit.edu	37	2	11284117	11284117	+	Silent	SNP	G	G	A			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr2:11284117G>A	uc010yji.1	+	3	651	c.369G>A	c.(367-369)ACG>ACA	p.T123T	C2orf50_uc010yjj.1_Silent_p.T123T	NM_182500	NP_872306	Q96LR7	CB050_HUMAN	hypothetical protein LOC130813	123											0	all_hematologic(175;0.0797)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.0997)|OV - Ovarian serous cystadenocarcinoma(76;0.134)		CCAGTTCCACGAACCAGGTTG	0.582		NA											10	61					0	0	0	0
NBAS	51594	broad.mit.edu	37	2	15629092	15629092	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr2:15629092G>A	uc002rcc.1	-	12	1035	c.1009C>T	c.(1009-1011)CAC>TAC	p.H337Y	NBAS_uc002rcd.1_RNA	NM_015909	NP_056993	A2RRP1	NBAS_HUMAN	neuroblastoma-amplified protein	337	WD 2.									ovary(2)|liver(1)|skin(1)	4						CCTGAGAAGTGAATGGCTGCC	0.448		NA											14	62					0	0	0	0
TTC32	130502	broad.mit.edu	37	2	20101573	20101573	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr2:20101573C>T	uc002rdg.2	-	1	175	c.43G>A	c.(43-45)GCC>ACC	p.A15T		NM_001008237	NP_001008238	Q5I0X7	TTC32_HUMAN	tetratricopeptide repeat domain 32	15	TPR 1.						identical protein binding				0	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGAGCCTGGGCGAGTGTTAGG	0.597		NA											10	82					0	0	0	0
APOB	338	broad.mit.edu	37	2	21230369	21230369	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr2:21230369T>C	uc002red.2	-	26	9499	c.9371A>G	c.(9370-9372)GAT>GGT	p.D3124G		NM_000384	NP_000375	P04114	APOB_HUMAN	apolipoprotein B precursor	3124					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)	27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	GTTTAAGAAATCCAGATTTGC	0.378		NA											19	84					0	0	0	0
OTOF	9381	broad.mit.edu	37	2	26688665	26688665	+	Silent	SNP	C	C	A			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr2:26688665C>A	uc002rhk.2	-	38	4801	c.4674G>T	c.(4672-4674)ACG>ACT	p.T1558T	OTOF_uc010yla.1_Silent_p.T288T|OTOF_uc002rhh.2_Silent_p.T791T|OTOF_uc002rhi.2_Silent_p.T868T|OTOF_uc002rhj.2_Silent_p.T791T	NM_194248	NP_919224	Q9HC10	OTOF_HUMAN	otoferlin isoform a	1558	Cytoplasmic (Potential).|C2 4.				cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding			ovary(3)|breast(2)|central_nervous_system(1)|pancreas(1)	7	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ACACAGCCACCGTCAGCATGG	0.572		NA											11	51					1.09e-07	1.56e-07	1	0
C2orf53	339779	broad.mit.edu	37	2	27360067	27360067	+	Silent	SNP	A	A	G			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr2:27360067A>G	uc002rjb.2	-	3	1711	c.1131T>C	c.(1129-1131)CCT>CCC	p.P377P	PREB_uc002rix.1_5'Flank|PREB_uc002riy.1_5'Flank|PREB_uc002riz.1_5'Flank|PREB_uc002rja.1_5'Flank	NM_178553	NP_848648	Q53SZ7	CB053_HUMAN	hypothetical protein LOC339779	377											0	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCCGAGGTGGAGGCCCGGAGA	0.607		NA											3	111					0	0	0	0
RBKS	64080	broad.mit.edu	37	2	28050554	28050554	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr2:28050554C>A	uc002rlo.1	-	7	686	c.675G>T	c.(673-675)TTG>TTT	p.L225F	RBKS_uc010ezi.1_Missense_Mutation_p.L158F|RBKS_uc010ymg.1_Missense_Mutation_p.L225F	NM_022128	NP_071411	Q9H477	RBSK_HUMAN	ribokinase	225					D-ribose metabolic process		ATP binding|ribokinase activity			ovary(1)|skin(1)	2	Acute lymphoblastic leukemia(172;0.155)					AGCCCCTTTTCAAGAGCACTA	0.512		NA											17	60					2.23e-06	3.17e-06	1	0
EPCAM	4072	broad.mit.edu	37	2	47604194	47604194	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr2:47604194C>A	uc002rvx.2	+	5	891	c.533C>A	c.(532-534)CCA>CAA	p.P178Q	EPCAM_uc002rvw.2_Missense_Mutation_p.P206Q|MIR559_hsa-mir-559|MI0003565_5'Flank	NM_002354	NP_002345	P16422	EPCAM_HUMAN	epithelial cell adhesion molecule precursor	178	Extracellular (Potential).				positive regulation of cell proliferation	apical plasma membrane|basolateral plasma membrane|integral to membrane|lateral plasma membrane|tight junction	protein binding			skin(1)	1						CAACTGGATCCAAAATTTATC	0.333		NA							Lynch_syndrome				12	53					1.62e-10	2.39e-10	1	0
ASB3	51130	broad.mit.edu	37	2	53927562	53927562	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr2:53927562G>A	uc002rxg.1	-	8	1219	c.1084C>T	c.(1084-1086)CGC>TGC	p.R362C	ASB3_uc002rxh.1_Missense_Mutation_p.R289C|ASB3_uc002rxi.3_Missense_Mutation_p.R400C|ASB3_uc002rxf.1_RNA	NM_016115	NP_057199	Q9Y575	ASB3_HUMAN	ankyrin repeat and SOCS box-containing protein 3	362	ANK 11.				intracellular signal transduction					ovary(1)|kidney(1)	2			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			AAAAAGTAGCGAAATATCGAA	0.353		NA											7	72					0	0	0	0
BCL11A	53335	broad.mit.edu	37	2	60687704	60687704	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr2:60687704C>G	uc002sae.1	-	4	2571	c.2343G>C	c.(2341-2343)CAG>CAC	p.Q781H	BCL11A_uc002sab.2_Intron|BCL11A_uc002sac.2_Intron|BCL11A_uc010ypi.1_Intron|BCL11A_uc010ypj.1_Missense_Mutation_p.Q747H|BCL11A_uc002sad.1_Missense_Mutation_p.Q629H|BCL11A_uc002saf.1_Missense_Mutation_p.Q747H	NM_022893	NP_075044	Q9H165	BC11A_HUMAN	B-cell CLL/lymphoma 11A isoform 1	781	C2H2-type 5.				negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|cytoplasm|nucleus|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding			central_nervous_system(6)|breast(3)|ovary(2)|skin(2)	13			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			GCTTGCTACTCTGGGCACAGG	0.493		NA	T	IGH@	B-CLL								22	71					0	0	0	0
USP34	9736	broad.mit.edu	37	2	61483552	61483552	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr2:61483552G>C	uc002sbe.2	-	48	6210	c.6188C>G	c.(6187-6189)TCT>TGT	p.S2063C	USP34_uc002sbf.2_Missense_Mutation_p.S213C	NM_014709	NP_055524	Q70CQ2	UBP34_HUMAN	ubiquitin specific protease 34	2063					positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			ovary(8)|breast(5)|skin(3)|lung(2)|prostate(1)	19			Epithelial(17;0.229)			CCCACAATGAGAACAAGTATA	0.313		NA											9	44					0	0	0	0
CLEC4F	165530	broad.mit.edu	37	2	71043722	71043722	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr2:71043722A>G	uc002shf.2	-	4	868	c.791T>C	c.(790-792)GTC>GCC	p.V264A	CLEC4F_uc010yqv.1_Missense_Mutation_p.V264A	NM_173535	NP_775806	Q8N1N0	CLC4F_HUMAN	C-type lectin, superfamily member 13	264	Extracellular (Potential).				endocytosis	integral to membrane	receptor activity|sugar binding			ovary(5)	5						CAAGTCATTGACACTATCTAG	0.428		NA											29	85					0	0	0	0
TSGA10	80705	broad.mit.edu	37	2	99695250	99695250	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr2:99695250G>C	uc002szg.3	-	10	1382	c.754C>G	c.(754-756)CAG>GAG	p.Q252E	TSGA10_uc002szh.3_Missense_Mutation_p.Q252E|TSGA10_uc002szi.3_Missense_Mutation_p.Q252E|TSGA10_uc010fin.1_Missense_Mutation_p.Q252E|TSGA10_uc010yvn.1_Missense_Mutation_p.Q252E	NM_182911	NP_878915	Q9BZW7	TSG10_HUMAN	testis specific, 10	252					spermatogenesis	cytoplasm|nuclear membrane				ovary(1)|central_nervous_system(1)	2						TCTTCTCGCTGTGCAATATTT	0.328		NA											4	32					0	0	0	0
IL18R1	8809	broad.mit.edu	37	2	102984411	102984411	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr2:102984411C>T	uc002tbw.3	+	3	335	c.185C>T	c.(184-186)TCA>TTA	p.S62L	IL18R1_uc010ywb.1_Missense_Mutation_p.S62L|IL18R1_uc010ywc.1_Missense_Mutation_p.S62L|IL18R1_uc010ywd.1_Intron|IL18R1_uc010fiy.2_Missense_Mutation_p.S62L	NM_003855	NP_003846	Q13478	IL18R_HUMAN	interleukin 18 receptor 1 precursor	62	Ig-like C2-type 1.|Extracellular (Potential).				innate immune response	integral to membrane|plasma membrane	interleukin-1 receptor activity			ovary(2)|pancreas(1)	3						AGCAGTGGATCACAGGAACAT	0.443		NA											15	45					0	0	0	0
HS6ST1	9394	broad.mit.edu	37	2	129025882	129025882	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr2:129025882G>A	uc002tpt.3	-	2	1124	c.1090C>T	c.(1090-1092)CAG>TAG	p.Q364*		NM_004807	NP_004798	O60243	H6ST1_HUMAN	heparan sulfate 6-O-sulfotransferase 1	364	Potential.|Lumenal (Potential).				heparan sulfate proteoglycan biosynthetic process, enzymatic modification	integral to plasma membrane	sulfotransferase activity			pancreas(1)	1	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.117)		CGCTCCAGCTGCCGCTTGTAC	0.672		NA											20	50					0	0	0	0
MGAT5	4249	broad.mit.edu	37	2	135093845	135093845	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr2:135093845G>A	uc002ttv.1	+	5	776	c.631G>A	c.(631-633)GAT>AAT	p.D211N		NM_002410	NP_002401	Q09328	MGT5A_HUMAN	N-acetylglucosaminyltransferase V	211	Lumenal (Potential).				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity			ovary(2)|skin(1)	3				BRCA - Breast invasive adenocarcinoma(221;0.0964)		CGAAGAAGCTGATCATAATTC	0.363		NA											11	20					0	0	0	0
KIF5C	3800	broad.mit.edu	37	2	149793866	149793866	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr2:149793866C>G	uc010zbu.1	+	4	728	c.360C>G	c.(358-360)ATC>ATG	p.I120M		NM_004522	NP_004513	O60282	KIF5C_HUMAN	kinesin family member 5C	120	Kinesin-motor.				microtubule-based movement|organelle organization	cytoplasm|kinesin complex|microtubule	ATP binding|microtubule motor activity			skin(1)	1				BRCA - Breast invasive adenocarcinoma(221;0.108)		TTGACCATATCTACTCCATGG	0.483		NA											2	7					0	0	0	0
NFE2L2	4780	broad.mit.edu	37	2	178095623	178095623	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr2:178095623C>T	uc002ulh.3	-	5	2263	c.1708G>A	c.(1708-1710)GAT>AAT	p.D570N	NFE2L2_uc002ulg.3_Missense_Mutation_p.D554N|NFE2L2_uc010zfa.1_Missense_Mutation_p.D547N|NFE2L2_uc002uli.3_Missense_Mutation_p.D554N	NM_006164	NP_006155	Q16236	NF2L2_HUMAN	nuclear factor erythroid 2-like 2 isoform 1	570					transcription from RNA polymerase II promoter	centrosome|cytosol|nucleus|plasma membrane	protein dimerization activity|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)	1			Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)			CCATCTTCATCACGTAGCATG	0.378		NA	Mis		NSCLC|HNSCC					HNSCC(56;0.16)			18	107					0	0	0	0
TTN	7273	broad.mit.edu	37	2	179397871	179397871	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr2:179397871C>G	uc010zfg.1	-	307	95991	c.95767G>C	c.(95767-95769)GAA>CAA	p.E31923Q	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.E25618Q|TTN_uc010zfi.1_Missense_Mutation_p.E25551Q|TTN_uc010zfj.1_Missense_Mutation_p.E25426Q	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	32850							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)			GGTACACTTTCAGTTCCAGAA	0.433		NA											41	131					0	0	0	0
PGAP1	80055	broad.mit.edu	37	2	197767387	197767387	+	Silent	SNP	T	T	A			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr2:197767387T>A	uc002utw.2	-	5	843	c.729A>T	c.(727-729)GGA>GGT	p.G243G	PGAP1_uc002utx.2_Silent_p.G69G|PGAP1_uc002uty.1_Silent_p.G243G|PGAP1_uc010zgv.1_RNA|PGAP1_uc010fsj.2_Silent_p.G69G	NM_024989	NP_079265	Q75T13	PGAP1_HUMAN	GPI deacylase	243	Lumenal (Potential).				attachment of GPI anchor to protein|C-terminal protein lipidation|intracellular protein transport|myo-inositol transport	integral to membrane|intrinsic to endoplasmic reticulum membrane	nuclease activity|phosphoric ester hydrolase activity			ovary(3)|central_nervous_system(1)	4						AATCCCGGAATCCTCCAGCTA	0.358		NA											14	54					0	0	0	0
HSPD1	3329	broad.mit.edu	37	2	198363463	198363463	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr2:198363463C>T	uc002uui.2	-	2	247	c.110G>A	c.(109-111)CGA>CAA	p.R37Q	HSPD1_uc002uuj.2_Missense_Mutation_p.R37Q|HSPD1_uc010zgx.1_Missense_Mutation_p.R37Q|HSPD1_uc010fsm.2_5'UTR|HSPD1_uc002uuk.2_Missense_Mutation_p.R37Q|HSPD1_uc010zgy.1_Missense_Mutation_p.R37Q|HSPE1_uc002uul.2_5'Flank	NM_002156	NP_002147	P10809	CH60_HUMAN	chaperonin	37					'de novo' protein folding|activation of caspase activity|B cell cytokine production|B cell proliferation|chaperone-mediated protein complex assembly|interspecies interaction between organisms|isotype switching to IgG isotypes|MyD88-dependent toll-like receptor signaling pathway|negative regulation of apoptosis|positive regulation of apoptosis|positive regulation of interferon-alpha production|positive regulation of interferon-gamma production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of macrophage activation|positive regulation of T cell activation|positive regulation of T cell mediated immune response to tumor cell|protein maturation|protein refolding|protein stabilization|response to unfolded protein|T cell activation	cell surface|coated pit|coated vesicle|cytosol|early endosome|extracellular space|lipopolysaccharide receptor complex|mitochondrial inner membrane|mitochondrial matrix|stored secretory granule	ATP binding|ATPase activity|cell surface binding|chaperone binding|DNA replication origin binding|lipopolysaccharide binding|p53 binding|single-stranded DNA binding				0			Epithelial(96;0.225)			CATTAAGGCTCGGGCATCTGC	0.463		NA											16	85					0	0	0	0
MARS2	92935	broad.mit.edu	37	2	198570406	198570406	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr2:198570406G>C	uc002uuq.2	+	1	320	c.277G>C	c.(277-279)GAC>CAC	p.D93H	uc002uup.2_Intron	NM_138395	NP_612404	Q96GW9	SYMM_HUMAN	methionine-tRNA synthetase 2 precursor	93					methionyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|methionine-tRNA ligase activity			ovary(1)|central_nervous_system(1)|skin(1)	3					L-Methionine(DB00134)	CACTGGTACCGACGAGCACGG	0.667		NA											8	26					0	0	0	0
MARS2	92935	broad.mit.edu	37	2	198570421	198570421	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr2:198570421A>C	uc002uuq.2	+	1	335	c.292A>C	c.(292-294)AAG>CAG	p.K98Q	uc002uup.2_Intron	NM_138395	NP_612404	Q96GW9	SYMM_HUMAN	methionine-tRNA synthetase 2 precursor	98					methionyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|methionine-tRNA ligase activity			ovary(1)|central_nervous_system(1)|skin(1)	3					L-Methionine(DB00134)	GCACGGGCTGAAGATTCAGCA	0.672		NA											8	31					0	0	0	0
CXCR2	3579	broad.mit.edu	37	2	218999995	218999995	+	Missense_Mutation	SNP	G	G	C	rs146545386		TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr2:218999995G>C	uc002vgz.1	+	4	696	c.471G>C	c.(469-471)CAG>CAC	p.Q157H	CXCR2_uc002vha.1_Missense_Mutation_p.Q157H|CXCR2_uc002vhb.1_Missense_Mutation_p.Q157H	NM_001557	NP_001548	P25025	CXCR2_HUMAN	interleukin 8 receptor beta	157	Cytoplasmic (Potential).				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cellular defense response|dendritic cell chemotaxis|inflammatory response|neutrophil activation|neutrophil chemotaxis|positive regulation of cell proliferation	cell surface|integral to plasma membrane|mast cell granule	interleukin-8 receptor activity			lung(1)|breast(1)	2						CACTGACCCAGAAGCGCTACT	0.527		NA											15	36					0	0	0	0
CXCR2	3579	broad.mit.edu	37	2	219000052	219000052	+	Silent	SNP	G	G	A			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr2:219000052G>A	uc002vgz.1	+	4	753	c.528G>A	c.(526-528)CTG>CTA	p.L176L	CXCR2_uc002vha.1_Silent_p.L176L|CXCR2_uc002vhb.1_Silent_p.L176L	NM_001557	NP_001548	P25025	CXCR2_HUMAN	interleukin 8 receptor beta	176	Helical; Name=4; (Potential).				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cellular defense response|dendritic cell chemotaxis|inflammatory response|neutrophil activation|neutrophil chemotaxis|positive regulation of cell proliferation	cell surface|integral to plasma membrane|mast cell granule	interleukin-8 receptor activity			lung(1)|breast(1)	2						CCTTGCTCCTGGCCCTGCCTG	0.532		NA											18	32					0	0	0	0
TRIP12	9320	broad.mit.edu	37	2	230653558	230653558	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr2:230653558C>T	uc002vpw.1	-	31	4678	c.4569G>A	c.(4567-4569)ATG>ATA	p.M1523I	TRIP12_uc002vpx.1_Missense_Mutation_p.M1571I|TRIP12_uc002vpy.1_Missense_Mutation_p.M1253I	NM_004238	NP_004229	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	1523	K-box.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity			ovary(4)|lung(2)|breast(1)|central_nervous_system(1)|skin(1)	9		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		TGTTTCCTGTCATGATTACTA	0.378		NA											32	92					0	0	0	0
ATG16L1	55054	broad.mit.edu	37	2	234186223	234186223	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr2:234186223G>A	uc002vty.2	+	10	1221	c.964G>A	c.(964-966)GAT>AAT	p.D322N	ATG16L1_uc002vtx.1_Missense_Mutation_p.D159N|ATG16L1_uc002vua.2_Missense_Mutation_p.D303N|ATG16L1_uc002vub.2_Missense_Mutation_p.D180N|ATG16L1_uc002vtz.2_Missense_Mutation_p.D178N|ATG16L1_uc002vud.3_Missense_Mutation_p.D238N	NM_030803	NP_110430	Q676U5	A16L1_HUMAN	APG16 autophagy 16-like isoform 1	322	WD 1.				autophagic vacuole assembly|protein homooligomerization|protein transport	autophagic vacuole|pre-autophagosomal structure membrane	protein binding				0		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0539)		Epithelial(121;1.53e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000379)|LUSC - Lung squamous cell carcinoma(224;0.00619)|Lung(119;0.00732)|GBM - Glioblastoma multiforme(43;0.11)		GGATGCACATGATGGGGAAGT	0.522		NA											15	48					0	0	0	0
UGT1A8	54576	broad.mit.edu	37	2	234527112	234527112	+	Silent	SNP	G	G	A			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr2:234527112G>A	uc002vup.2	+	1	822	c.759G>A	c.(757-759)TTG>TTA	p.L253L	UGT1A8_uc010zmv.1_Silent_p.L253L	NM_019076	NP_061949	Q9HAW9	UD18_HUMAN	UDP glycosyltransferase 1 family, polypeptide A8	253					drug metabolic process|fatty acid metabolic process|flavone metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	enzyme inhibitor activity|fatty acid binding|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|steroid binding			ovary(2)	2		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0334)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;2.56e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000482)|Lung(119;0.00404)|LUSC - Lung squamous cell carcinoma(224;0.008)		TTTGGTTGTTGCGAACAGACT	0.428		NA											61	290					0	0	0	0
PASK	23178	broad.mit.edu	37	2	242065973	242065973	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr2:242065973T>C	uc002wao.1	-	10	2449	c.2357A>G	c.(2356-2358)GAA>GGA	p.E786G	PASK_uc010zol.1_Missense_Mutation_p.E600G|PASK_uc010zom.1_Missense_Mutation_p.E751G|PASK_uc010fzl.1_Missense_Mutation_p.E786G|PASK_uc010zon.1_Missense_Mutation_p.E567G|PASK_uc002wap.2_Missense_Mutation_p.E329G|PASK_uc002waq.2_Missense_Mutation_p.E786G	NM_015148	NP_055963	Q96RG2	PASK_HUMAN	PAS domain containing serine/threonine kinase	786					regulation of transcription, DNA-dependent	Golgi apparatus	ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity			ovary(4)|lung(1)|skin(1)	6		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)		CGACCCCTGTTCCTGGAGACT	0.567		NA											22	65					0	0	0	0
PLCB1	23236	broad.mit.edu	37	20	8717816	8717816	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr20:8717816G>A	uc002wnb.2	+	20	2188	c.2185G>A	c.(2185-2187)GAA>AAA	p.E729K	PLCB1_uc010zrb.1_Missense_Mutation_p.E628K|PLCB1_uc002wna.2_Missense_Mutation_p.E729K|PLCB1_uc002wnc.1_Missense_Mutation_p.E628K|PLCB1_uc002wnd.1_Missense_Mutation_p.E306K	NM_015192	NP_056007	Q9NQ66	PLCB1_HUMAN	phosphoinositide-specific phospholipase C beta 1	729	C2.				activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity			ovary(4)|breast(3)|upper_aerodigestive_tract(2)|skin(2)|lung(1)	12						TGTCTGGGAAGAAGAACCTAT	0.378		NA											6	42					0	0	0	0
SLC12A5	57468	broad.mit.edu	37	20	44675031	44675031	+	Silent	SNP	G	G	T			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr20:44675031G>T	uc010zxl.1	+	14	1888	c.1812G>T	c.(1810-1812)CTG>CTT	p.L604L	SLC12A5_uc010zxm.1_RNA|SLC12A5_uc002xrb.2_Silent_p.L581L	NM_001134771	NP_001128243	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium-chloride	604	Cytoplasmic (Potential).				potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity			ovary(2)|large_intestine(1)|central_nervous_system(1)|skin(1)	5		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	TGCAGACGCTGCTGAGGACAC	0.567		NA											14	65					6.72e-11	9.95e-11	1	0
ZFP64	55734	broad.mit.edu	37	20	50701128	50701128	+	Missense_Mutation	SNP	C	C	T	rs142930891	byFrequency	TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr20:50701128C>T	uc002xwk.2	-	9	2255	c.1906G>A	c.(1906-1908)GAG>AAG	p.E636K	ZFP64_uc002xwj.2_Missense_Mutation_p.E417K	NM_199427	NP_955459	Q9NPA5	ZF64A_HUMAN	zinc finger protein 64 isoform d	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			upper_aerodigestive_tract(1)|ovary(1)	2						AGGGGAGCCTCGAGCTGCCCC	0.612		NA											11	30					0	0	0	0
BMP7	655	broad.mit.edu	37	20	55750064	55750064	+	Splice_Site	SNP	C	C	G			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr20:55750064C>G	uc010gip.1	-	5	1488	c.959_splice	c.e5-1	p.E320_splice	BMP7_uc010giq.1_Splice_Site_p.E254_splice|BMP7_uc002xyc.2_Splice_Site_p.E320_splice	NM_001719	NP_001710	P18075	BMP7_HUMAN	bone morphogenetic protein 7 precursor						BMP signaling pathway|cartilage development|cellular response to hypoxia|epithelial to mesenchymal transition|growth|mesonephros development|negative regulation of glomerular mesangial cell proliferation|negative regulation of MAP kinase activity|negative regulation of mitosis|negative regulation of neuron differentiation|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of phosphorylation|negative regulation of striated muscle cell apoptosis|negative regulation of transcription, DNA-dependent|ossification|pathway-restricted SMAD protein phosphorylation|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|protein localization to nucleus|regulation of removal of superoxide radicals|SMAD protein signal transduction|steroid hormone mediated signaling pathway|ureteric bud development	extracellular space	cytokine activity|growth factor activity			skin(1)	1	all_lung(29;0.0133)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(4;2.49e-13)|Epithelial(14;1.74e-08)|all cancers(14;2.05e-07)			CTGCTGTTCTCTGCATTGACA	0.537		NA											4	6					0	0	0	0
PHACTR3	116154	broad.mit.edu	37	20	58349449	58349449	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr20:58349449G>T	uc002yau.2	+	7	1545	c.1078G>T	c.(1078-1080)GAG>TAG	p.E360*	PHACTR3_uc002yat.2_Nonsense_Mutation_p.E357*|PHACTR3_uc010zzw.1_Nonsense_Mutation_p.E319*|PHACTR3_uc002yav.2_Nonsense_Mutation_p.E319*|PHACTR3_uc002yaw.2_Nonsense_Mutation_p.E319*|PHACTR3_uc002yax.2_Nonsense_Mutation_p.E249*	NM_080672	NP_542403	Q96KR7	PHAR3_HUMAN	phosphatase and actin regulator 3 isoform 1	360	Potential.					nuclear matrix	actin binding|protein phosphatase inhibitor activity			ovary(2)|pancreas(1)	3	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;2.76e-09)			TAAGGAATCTGAGGAGAACAA	0.517		NA											22	70					8.1e-08	1.17e-07	1	0
KCNQ2	3785	broad.mit.edu	37	20	62039880	62039880	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr20:62039880C>G	uc002yey.1	-	16	1950	c.1773G>C	c.(1771-1773)CAG>CAC	p.Q591H	KCNQ2_uc002yez.1_Missense_Mutation_p.Q560H|KCNQ2_uc002yfa.1_Missense_Mutation_p.Q573H|KCNQ2_uc002yfb.1_Missense_Mutation_p.Q563H	NM_172107	NP_742105	O43526	KCNQ2_HUMAN	potassium voltage-gated channel KQT-like protein	591	Cytoplasmic (Potential).				axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			upper_aerodigestive_tract(1)|ovary(1)	2	all_cancers(38;1.24e-11)		BRCA - Breast invasive adenocarcinoma(10;1.04e-05)		Amitriptyline(DB00321)	GCCCCACGATCTGGTCCACTC	0.697		NA											3	18					0	0	0	0
BAGE2	85319	broad.mit.edu	37	21	11049596	11049596	+	Missense_Mutation	SNP	C	C	T	rs28571918		TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr21:11049596C>T	uc002yit.1	-	4	513	c.305G>A	c.(304-306)TGT>TAT	p.C102Y		NM_182482	NP_872288			B melanoma antigen family, member 2 precursor												0			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		GGCTGTCGCACACTGCACAGT	0.373		NA											26	143					0	0	0	0
BAGE2	85319	broad.mit.edu	37	21	11049621	11049621	+	Nonsense_Mutation	SNP	G	G	A	rs28441174		TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr21:11049621G>A	uc002yit.1	-	4	488	c.280C>T	c.(280-282)CGA>TGA	p.R94*		NM_182482	NP_872288			B melanoma antigen family, member 2 precursor												0			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		ATCTTCCTTCGCTATAATTAA	0.368		NA											22	144					0	0	0	0
BAGE2	85319	broad.mit.edu	37	21	11049623	11049623	+	Splice_Site	SNP	T	T	C	rs28537865		TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr21:11049623T>C	uc002yit.1	-	4	488	c.280_splice	c.e4-1	p.R94_splice		NM_182482	NP_872288			B melanoma antigen family, member 2 precursor												0			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		CTTCCTTCGCTATAATTAACA	0.368		NA											21	144					0	0	0	0
NCAM2	4685	broad.mit.edu	37	21	22710789	22710789	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr21:22710789G>A	uc002yld.1	+	8	1228	c.979G>A	c.(979-981)GAG>AAG	p.E327K	NCAM2_uc011acb.1_Missense_Mutation_p.E185K|NCAM2_uc011acc.1_Missense_Mutation_p.E352K	NM_004540	NP_004531	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2 precursor	327	Ig-like C2-type 4.|Extracellular (Potential).				neuron cell-cell adhesion	integral to membrane|plasma membrane				ovary(4)	4		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		TGCGGAAGGGGAGCCTATTCC	0.388		NA											8	16					0	0	0	0
SYNJ1	8867	broad.mit.edu	37	21	34037326	34037326	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr21:34037326C>T	uc002yqh.2	-	18	2318	c.2318G>A	c.(2317-2319)CGA>CAA	p.R773Q	SYNJ1_uc011ads.1_Missense_Mutation_p.R729Q|SYNJ1_uc002yqf.2_Missense_Mutation_p.R734Q|SYNJ1_uc002yqg.2_Missense_Mutation_p.R729Q|SYNJ1_uc002yqi.2_Missense_Mutation_p.R773Q	NM_003895	NP_003886	O43426	SYNJ1_HUMAN	synaptojanin 1 isoform a	734	Catalytic (Potential).						inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding			ovary(4)|skin(1)	5						GAGATCGATTCGATAGTTGAA	0.348		NA											7	44					0	0	0	0
MX1	4599	broad.mit.edu	37	21	42824567	42824567	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr21:42824567G>C	uc002yzh.2	+	18	2476	c.1529G>C	c.(1528-1530)AGA>ACA	p.R510T	MX1_uc002yzi.2_Missense_Mutation_p.R510T|MX1_uc010goq.2_Missense_Mutation_p.R510T	NM_001144925	NP_001138397	P20591	MX1_HUMAN	myxovirus resistance protein 1	510					induction of apoptosis|response to virus|type I interferon-mediated signaling pathway	cytosol	GTP binding|GTPase activity|protein binding			ovary(1)	1		Prostate(19;3.18e-07)|all_epithelial(19;0.0277)				GAAGACATTAGAGCAGAACAA	0.428		NA											17	71					0	0	0	0
RIPK4	54101	broad.mit.edu	37	21	43161791	43161791	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr21:43161791C>T	uc002yzn.1	-	8	1610	c.1562G>A	c.(1561-1563)CGG>CAG	p.R521Q		NM_020639	NP_065690	P57078	RIPK4_HUMAN	ankyrin repeat domain 3	521						cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			ovary(2)|central_nervous_system(2)|large_intestine(1)|lung(1)|skin(1)	7						CAACAGCAGCCGTGTGCTAGA	0.627		NA											9	44					0	0	0	0
UMODL1	89766	broad.mit.edu	37	21	43531075	43531075	+	Silent	SNP	C	C	T			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr21:43531075C>T	uc002zaf.1	+	11	1743	c.1743C>T	c.(1741-1743)CTC>CTT	p.L581L	UMODL1_uc002zad.1_Silent_p.L509L|UMODL1_uc002zae.1_Silent_p.L509L|UMODL1_uc002zag.1_Silent_p.L581L|C21orf128_uc002zak.2_5'Flank	NM_001004416	NP_001004416	Q5DID0	UROL1_HUMAN	uromodulin-like 1 isoform 1 precursor	581	Extracellular (Potential).					cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity			ovary(2)|skin(1)	3						CAGCAGCCCTCGGCCTAGAGA	0.657		NA											12	32					0	0	0	0
MCM3AP	8888	broad.mit.edu	37	21	47665030	47665030	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr21:47665030C>T	uc002zir.1	-	23	4765	c.4729G>A	c.(4729-4731)GAA>AAA	p.E1577K	MCM3APAS_uc002zim.2_Intron|MCM3APAS_uc002zin.2_Intron|MCM3AP_uc002zio.1_Missense_Mutation_p.E72K|MCM3AP_uc002zip.1_Missense_Mutation_p.E318K|MCM3AP_uc002ziq.1_Missense_Mutation_p.E504K|MCM3APAS_uc002zis.1_Intron	NM_003906	NP_003897	O60318	MCM3A_HUMAN	minichromosome maintenance complex component 3	1577					DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding			large_intestine(2)|lung(1)|ovary(1)|skin(1)	5	Breast(49;0.112)					ATCCCGTCTTCGACGTACTGA	0.542		NA											16	56					0	0	0	0
XKR3	150165	broad.mit.edu	37	22	17288845	17288845	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr22:17288845G>C	uc002zlv.2	-	2	217	c.119C>G	c.(118-120)TCA>TGA	p.S40*	XKR3_uc011agf.1_Nonsense_Mutation_p.S40*	NM_175878	NP_787074	Q5GH77	XKR3_HUMAN	X Kell blood group precursor-related family,	40	Helical; (Potential).					integral to membrane|plasma membrane				large_intestine(1)|ovary(1)|skin(1)	3	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				GAGAACAGTTGAGAAGATAAT	0.388		NA											15	59					0	0	0	0
LIF	3976	broad.mit.edu	37	22	30639779	30639779	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr22:30639779C>A	uc003agz.2	-	3	582	c.470G>T	c.(469-471)AGC>ATC	p.S157I	LIF_uc011aks.1_3'UTR|uc003aha.2_5'Flank	NM_002309	NP_002300	P15018	LIF_HUMAN	leukemia inhibitory factor (cholinergic	157					immune response|leukemia inhibitory factor signaling pathway|negative regulation of hormone secretion|positive regulation of cell proliferation|positive regulation of macrophage differentiation|positive regulation of MAPKKK cascade|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of peptidyl-serine phosphorylation of STAT protein|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tyrosine phosphorylation of Stat1 protein|positive regulation of tyrosine phosphorylation of Stat3 protein|regulation of metanephric nephron tubule epithelial cell differentiation		cytokine activity|growth factor activity|leukemia inhibitory factor receptor binding				0			Epithelial(10;0.171)			GTGGTACTTGCTGCACAGGCG	0.607		NA											24	59					1.18e-12	1.76e-12	1	0
CSNK1E	1454	broad.mit.edu	37	22	38690154	38690154	+	Silent	SNP	G	G	A			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr22:38690154G>A	uc003avj.2	-	9	1440	c.1179C>T	c.(1177-1179)CTC>CTT	p.L393L	CSNK1E_uc003avk.2_Silent_p.L393L|CSNK1E_uc003avl.1_RNA|CSNK1E_uc003avm.1_Silent_p.L393L|CSNK1E_uc003avn.1_Silent_p.L77L|CSNK1E_uc003avo.2_Silent_p.L393L	NM_152221	NP_689407	P49674	KC1E_HUMAN	casein kinase 1 epsilon	393					DNA repair|G2/M transition of mitotic cell cycle|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|signal transduction	cytosol|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			ovary(1)|lung(1)|central_nervous_system(1)	3	Melanoma(58;0.045)					GCCGCCCAGTGAGGTCTGAGG	0.647		NA											6	38					0	0	0	0
PKDREJ	10343	broad.mit.edu	37	22	46657509	46657509	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr22:46657509C>G	uc003bhh.2	-	1	1711	c.1711G>C	c.(1711-1713)GCT>CCT	p.A571P		NM_006071	NP_006062	Q9NTG1	PKDRE_HUMAN	receptor for egg jelly-like protein precursor	571	Extracellular (Potential).|REJ.				acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity			breast(3)|ovary(2)	5		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		ATTCCTTTAGCTGGATTAATT	0.368		NA											7	51					0	0	0	0
CELSR1	9620	broad.mit.edu	37	22	46780555	46780555	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr22:46780555G>T	uc003bhw.1	-	20	6768	c.6768C>A	c.(6766-6768)TTC>TTA	p.F2256L	CELSR1_uc011arc.1_Missense_Mutation_p.F577L	NM_014246	NP_055061	Q9NYQ6	CELR1_HUMAN	cadherin EGF LAG seven-pass G-type receptor 1	2256	Extracellular (Potential).				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity			lung(4)|breast(4)|pancreas(2)|skin(1)	11		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		CCGTAAAGTTGAACTTGTCAA	0.522		NA											7	37					0.000274275	0.000370226	1	0
SYN2	6854	broad.mit.edu	37	3	12209896	12209896	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr3:12209896C>T	uc003bwm.2	+	13	1240	c.1076C>T	c.(1075-1077)ACC>ATC	p.T359I	SYN2_uc003bwl.1_Missense_Mutation_p.T359I|SYN2_uc003bwn.2_Missense_Mutation_p.T33I	NM_133625	NP_598328	Q92777	SYN2_HUMAN	synapsin II isoform IIa	359					neurotransmitter secretion	synaptic vesicle	ATP binding|ligase activity			ovary(1)|central_nervous_system(1)	2						TGGGTGGACACCTGCTCTGAG	0.522		NA											9	20					0	0	0	0
DYNC1LI1	51143	broad.mit.edu	37	3	32612233	32612233	+	Silent	SNP	G	G	A			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr3:32612233G>A	uc003cfb.3	-	1	118	c.30C>T	c.(28-30)TTC>TTT	p.F10F	DYNC1LI1_uc011axh.1_Silent_p.F10F	NM_016141	NP_057225	Q9Y6G9	DC1L1_HUMAN	dynein, cytoplasmic 1, light intermediate chain	10					cell division|interspecies interaction between organisms|mitosis|positive regulation of mitotic cell cycle spindle assembly checkpoint|transport	centrosome|condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|plasma membrane|spindle pole	ATP binding|motor activity			ovary(1)	1						GAGAAGAACCGAAGGAGCCGA	0.672		NA											5	21					0	0	0	0
SCN11A	11280	broad.mit.edu	37	3	38991702	38991702	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr3:38991702C>T	uc011ays.1	-	1	351	c.152G>A	c.(151-153)CGG>CAG	p.R51Q		NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha	51					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			skin(6)|ovary(1)|haematopoietic_and_lymphoid_tissue(1)|pancreas(1)	9				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	AAGCTGAGGCCGAGGCTGGGG	0.522		NA											13	157					0	0	0	0
XIRP1	165904	broad.mit.edu	37	3	39227860	39227860	+	Missense_Mutation	SNP	C	C	G	rs139499086	by1000genomes	TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr3:39227860C>G	uc003cjk.1	-	2	3298	c.3077G>C	c.(3076-3078)GGA>GCA	p.G1026A	XIRP1_uc003cji.2_Missense_Mutation_p.G1026A|XIRP1_uc003cjj.2_Intron	NM_194293	NP_919269	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	1026							actin binding			ovary(4)|breast(2)|central_nervous_system(1)|pancreas(1)	8				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		CCCTTTCTGTCCAGAGTGACT	0.607		NA											14	56					0	0	0	0
CTNNB1	1499	broad.mit.edu	37	3	41266590	41266590	+	Silent	SNP	A	A	G			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr3:41266590A>G	uc010hia.1	+	5	543	c.387A>G	c.(385-387)TCA>TCG	p.S129S	CTNNB1_uc003ckp.2_Silent_p.S129S|CTNNB1_uc003ckq.2_Silent_p.S129S|CTNNB1_uc003ckr.2_Silent_p.S129S|CTNNB1_uc011azf.1_Silent_p.S122S|CTNNB1_uc011azg.1_Silent_p.S57S|uc010hib.1_5'Flank	NM_001904	NP_001895	P35222	CTNB1_HUMAN	beta-catenin	129					adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|regulation of T cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|Schwann cell proliferation|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|T cell differentiation in thymus|thymus development|trachea formation	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|Z disc|zonula adherens	alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|I-SMAD binding|ion channel binding|protein binding|protein C-terminus binding|protein kinase binding|protein phosphatase binding|R-SMAD binding|RPTP-like protein binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding	p.A5_Q143del(7)|p.Q28_H134del(5)|p.W25_I140del(4)|p.V22_L139>V(2)|p.M5_N141>D(2)|p.L10_N141del(2)|p.A5_Y142>D(2)|p.A20_Q143del(1)|p.A5_Q143>E(1)|p.A13_R151del(1)|p.S23_I140del(1)|p.A20_R151del(1)|p.A20_N141del(1)|p.D11_Y142>H(1)|p.I35_K170del(1)|p.D6_K133del(1)|p.M1_V173del(1)|p.E15_I140>V(1)|p.H24_M131del(1)|p.A5_D144>D(1)|p.L7_I140del(1)|p.K19_Y142>V(1)|p.A20_L148del(1)|p.E9_I140del(1)|p.P16_K133del(1)|p.D6_I140del(1)|p.Q28_I140del(1)	CTNNB1/PLAG1(60)	liver(806)|soft_tissue(609)|large_intestine(243)|endometrium(222)|kidney(172)|stomach(157)|central_nervous_system(139)|ovary(104)|skin(97)|pancreas(91)|adrenal_gland(85)|pituitary(81)|salivary_gland(62)|haematopoietic_and_lymphoid_tissue(57)|thyroid(55)|biliary_tract(41)|lung(38)|prostate(24)|bone(20)|small_intestine(17)|cervix(9)|parathyroid(9)|urinary_tract(8)|breast(7)|oesophagus(5)|NS(3)|pleura(2)|upper_aerodigestive_tract(2)|eye(1)	3166				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)	Lithium(DB01356)	CTGAACCATCACAGATGCTGA	0.448		15	H|Mis|T	PLAG1	colorectal|cvarian| hepatoblastoma|others|pleomorphic salivary adenoma				Pilomatrixoma_Familial_Clustering_of				15	48					0	0	0	0
TRAK1	22906	broad.mit.edu	37	3	42229593	42229593	+	Silent	SNP	C	C	T			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr3:42229593C>T	uc003cky.2	+	5	753	c.537C>T	c.(535-537)ACC>ACT	p.T179T	TRAK1_uc011azh.1_Silent_p.T179T|TRAK1_uc011azi.1_Silent_p.T179T|TRAK1_uc003ckz.3_Silent_p.T105T|TRAK1_uc011azj.1_Silent_p.T105T|TRAK1_uc003cla.2_Silent_p.T121T	NM_001042646	NP_001036111	Q9UPV9	TRAK1_HUMAN	OGT(O-Glc-NAc transferase)-interacting protein	179	Potential.|HAP1 N-terminal.				endosome to lysosome transport|protein O-linked glycosylation|protein targeting|regulation of transcription from RNA polymerase II promoter	early endosome|mitochondrion|nucleus				ovary(1)	1						AGTTCTACACCAGCGCTGCGG	0.577		NA											22	136					0	0	0	0
LZTFL1	54585	broad.mit.edu	37	3	45874556	45874556	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr3:45874556C>T	uc003cox.1	-	5	580	c.442G>A	c.(442-444)GAA>AAA	p.E148K	LZTFL1_uc003coy.1_Missense_Mutation_p.E131K|LZTFL1_uc011bak.1_RNA	NM_020347	NP_065080	Q9NQ48	LZTL1_HUMAN	leucine zipper transcription factor-like 1	148	Potential.										0				BRCA - Breast invasive adenocarcinoma(193;0.00867)|KIRC - Kidney renal clear cell carcinoma(197;0.0177)|Kidney(197;0.0208)		TTTAGGAGTTCTGCTGTTCCA	0.383		NA											9	80					0	0	0	0
ABHD14A	25864	broad.mit.edu	37	3	52014456	52014456	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr3:52014456C>T	uc003dco.2	+	4	555	c.445C>T	c.(445-447)CGG>TGG	p.R149W	ABHD14B_uc003dcn.2_Intron|ACY1_uc011bea.1_Intron	NM_015407	NP_056222	Q9BUJ0	ABHEA_HUMAN	abhydrolase domain containing 14A	149						cytoplasm|integral to membrane	hydrolase activity				0				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000541)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		AGAGGCAGGGCGGGCAGCGCT	0.637		NA											25	45					0	0	0	0
ROBO1	6091	broad.mit.edu	37	3	78696802	78696802	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr3:78696802G>C	uc003dqe.2	-	20	3024	c.2816C>G	c.(2815-2817)CCG>CGG	p.P939R	ROBO1_uc003dqb.2_Missense_Mutation_p.P900R|ROBO1_uc003dqc.2_Intron|ROBO1_uc003dqd.2_Intron|ROBO1_uc010hoh.2_Missense_Mutation_p.P131R|ROBO1_uc011bgl.1_Missense_Mutation_p.P511R	NM_002941	NP_002932	Q9Y6N7	ROBO1_HUMAN	roundabout 1 isoform a	939	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)		GGTAAAAGACGGGACTGAAAA	0.343		NA											61	232					0	0	0	0
WDR52	55779	broad.mit.edu	37	3	113152421	113152421	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr3:113152421C>G	uc003eae.1	-	2	137	c.91G>C	c.(91-93)GAA>CAA	p.E31Q		NM_018338	NP_060808	Q96MT7	WDR52_HUMAN	WD repeat domain 52 isoform 2	31										central_nervous_system(1)	1						CATCTTGATTCTGATTTAGAA	0.313		NA											17	65					0	0	0	0
RABL3	285282	broad.mit.edu	37	3	120413005	120413005	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr3:120413005C>G	uc003edx.2	-	6	631	c.601G>C	c.(601-603)GAT>CAT	p.D201H		NM_173825	NP_776186	Q5HYI8	RABL3_HUMAN	RAB, member of RAS oncogene family-like 3	201	Small GTPase-like.				small GTPase mediated signal transduction		GTP binding				0				GBM - Glioblastoma multiforme(114;0.151)		ATTACCTTATCAAAAAACCTA	0.294		NA											33	95					0	0	0	0
DIRC2	84925	broad.mit.edu	37	3	122514336	122514336	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr3:122514336C>G	uc003efw.3	+	1	436	c.297C>G	c.(295-297)ATC>ATG	p.I99M	DIRC2_uc010hrl.2_RNA|DIRC2_uc010hrm.2_Translation_Start_Site|HSPBAP1_uc003efu.1_5'Flank|HSPBAP1_uc003efv.1_5'Flank	NM_032839	NP_116228	Q96SL1	DIRC2_HUMAN	disrupted in renal carcinoma 2	99	Helical; (Potential).				transport	integral to membrane					0				GBM - Glioblastoma multiforme(114;0.0614)		GGGGGCCCATCGGCTTCCTGC	0.692		NA											5	23					0	0	0	0
UBA5	79876	broad.mit.edu	37	3	132387716	132387716	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr3:132387716T>A	uc003epa.3	+	4	594	c.352T>A	c.(352-354)TTC>ATC	p.F118I	NPHP3_uc003eoz.1_Intron|UBA5_uc010htr.2_Missense_Mutation_p.F62I|UBA5_uc010htt.2_Missense_Mutation_p.F118I|UBA5_uc003epb.3_Missense_Mutation_p.F62I	NM_024818	NP_079094	Q9GZZ9	UBA5_HUMAN	ubiquitin-activating enzyme 5 isoform 1	118					protein ufmylation	aggresome|cytoplasm|cytoplasm|nucleus	ATP binding|cofactor binding|metal ion binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein binding|UFM1 activating enzyme activity			kidney(1)	1						TAGACTTTTCTTCCAACCTCA	0.338		NA											30	95					0	0	0	0
PPP2R3A	5523	broad.mit.edu	37	3	135720623	135720623	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr3:135720623C>A	uc003eqv.1	+	2	848	c.283C>A	c.(283-285)CCC>ACC	p.P95T	PPP2R3A_uc011blz.1_Intron	NM_002718	NP_002709	Q06190	P2R3A_HUMAN	protein phosphatase 2, regulatory subunit B'',	95					protein dephosphorylation	protein phosphatase type 2A complex	calcium ion binding|protein binding|protein phosphatase type 2A regulator activity			ovary(3)|pancreas(1)|lung(1)|breast(1)|skin(1)	7						CACAGGCATACCCAGGGTCAA	0.423		NA											9	45					7.48e-07	1.07e-06	1	0
RASA2	5922	broad.mit.edu	37	3	141292835	141292835	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr3:141292835C>G	uc003etz.1	+	14	1409	c.1409C>G	c.(1408-1410)TCA>TGA	p.S470*	RASA2_uc010huq.1_Nonsense_Mutation_p.S470*|RASA2_uc003eua.1_Nonsense_Mutation_p.S470*|RASA2_uc011bnc.1_Nonsense_Mutation_p.S62*	NM_006506	NP_006497	Q15283	RASA2_HUMAN	RAS p21 protein activator 2	470	Ras-GAP.				intracellular signal transduction|negative regulation of Ras protein signal transduction	intracellular membrane-bounded organelle|intrinsic to internal side of plasma membrane|perinuclear region of cytoplasm	metal ion binding|Ras GTPase activator activity			ovary(2)|lung(2)|breast(1)|skin(1)	6						ATTGTAAAATCAAGTATGAGC	0.348		NA											7	36					0	0	0	0
EIF4G1	1981	broad.mit.edu	37	3	184039136	184039136	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr3:184039136C>T	uc003fnp.2	+	10	962	c.764C>T	c.(763-765)TCA>TTA	p.S255L	EIF4G1_uc003fno.1_Missense_Mutation_p.S196L|EIF4G1_uc010hxw.1_Missense_Mutation_p.S91L|EIF4G1_uc003fnt.2_5'UTR|EIF4G1_uc003fnq.2_Missense_Mutation_p.S168L|EIF4G1_uc003fnr.2_Missense_Mutation_p.S91L|EIF4G1_uc010hxx.2_Missense_Mutation_p.S262L|EIF4G1_uc003fns.2_Missense_Mutation_p.S215L|EIF4G1_uc010hxy.2_Missense_Mutation_p.S262L|EIF4G1_uc003fnv.3_Missense_Mutation_p.S255L|EIF4G1_uc003fnu.3_Missense_Mutation_p.S255L|EIF4G1_uc003fnw.2_Missense_Mutation_p.S262L|EIF4G1_uc003fnx.2_Missense_Mutation_p.S59L|EIF4G1_uc003fny.3_Missense_Mutation_p.S59L	NM_198241	NP_937884	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4	255					insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity			lung(2)|ovary(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	7	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CATAGCCCTTCAGAATCCCAG	0.577		NA											23	99					0	0	0	0
HS3ST1	9957	broad.mit.edu	37	4	11400946	11400946	+	Silent	SNP	G	G	A			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr4:11400946G>A	uc003gmq.2	-	2	1007	c.684C>T	c.(682-684)ATC>ATT	p.I228I		NM_005114	NP_005105	O14792	HS3S1_HUMAN	heparan sulfate D-glucosaminyl	228						Golgi lumen|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity			skin(1)	1						CGACCTTTTGGATCTCAGGGA	0.557		NA											6	28					0	0	0	0
ATP8A1	10396	broad.mit.edu	37	4	42416643	42416643	+	Splice_Site	SNP	C	C	T			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr4:42416643C>T	uc003gwr.2	-	36	3629	c.3397_splice	c.e36+1	p.H1133_splice	ATP8A1_uc003gwq.2_Splice_Site_p.H359_splice|ATP8A1_uc003gws.2_Splice_Site_p.H1118_splice	NM_006095	NP_006086	Q9Y2Q0	AT8A1_HUMAN	ATPase, aminophospholipid transporter (APLT),						ATP biosynthetic process	chromaffin granule membrane|integral to membrane|plasma membrane	aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity			skin(2)|central_nervous_system(1)	3					Phosphatidylserine(DB00144)	CAAATACTCACGGAGCAGATT	0.388		NA											24	82					0	0	0	0
LRRC66	339977	broad.mit.edu	37	4	52860807	52860807	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr4:52860807G>C	uc003gzi.2	-	4	2394	c.2381C>G	c.(2380-2382)TCT>TGT	p.S794C		NM_001024611	NP_001019782	Q68CR7	LRC66_HUMAN	leucine rich repeat containing 66	794						integral to membrane				ovary(1)|central_nervous_system(1)|skin(1)	3						ATCAGTGTCAGAGGCATTTTC	0.473		NA											4	32					0	0	0	0
UGT2B28	54490	broad.mit.edu	37	4	70152481	70152481	+	Silent	SNP	A	A	G	rs141618560		TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr4:70152481A>G	uc003hej.2	+	3	884	c.882A>G	c.(880-882)GAA>GAG	p.E294E	UGT2B28_uc010ihr.2_Silent_p.E294E	NM_053039	NP_444267	Q9BY64	UDB28_HUMAN	UDP glucuronosyltransferase 2 family,	294					xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			skin(1)	1					Flunitrazepam(DB01544)	AAATGGAGGAATTTGTACAGA	0.393		NA											4	99					0	0	0	0
WDFY3	23001	broad.mit.edu	37	4	85701392	85701392	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr4:85701392C>A	uc003hpd.2	-	26	4642	c.4234G>T	c.(4234-4236)GCA>TCA	p.A1412S		NM_014991	NP_055806	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3 isoform	1412						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			ovary(2)|central_nervous_system(1)	3		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		AGGATGGCTGCAGCTCCACCA	0.478		NA											29	61					2.48e-08	3.59e-08	1	0
TBC1D9	23158	broad.mit.edu	37	4	141543569	141543569	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr4:141543569T>A	uc010ioj.2	-	21	3853	c.3581A>T	c.(3580-3582)CAG>CTG	p.Q1194L		NM_015130	NP_055945	Q6ZT07	TBCD9_HUMAN	TBC1 domain family, member 9 (with GRAM domain)	1194						intracellular	calcium ion binding|Rab GTPase activator activity			ovary(1)	1	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)				CGCCGTGCCCTGGCCGCTCCG	0.667		NA											6	32					0	0	0	0
LRBA	987	broad.mit.edu	37	4	151271210	151271210	+	Silent	SNP	C	C	G			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr4:151271210C>G	uc010ipj.2	-	49	7803	c.7329G>C	c.(7327-7329)GTG>GTC	p.V2443V	LRBA_uc010ipi.2_Intron|LRBA_uc003ils.3_Silent_p.V333V|LRBA_uc003ilt.3_Silent_p.V1091V|LRBA_uc003ilu.3_Silent_p.V2432V	NM_006726	NP_006717	P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and	2443	BEACH.					endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding			ovary(3)|breast(3)|skin(1)	7	all_hematologic(180;0.151)					AGTAATAGAACACATTGAGGG	0.413		NA											8	34					0	0	0	0
ACCN5	51802	broad.mit.edu	37	4	156764841	156764841	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr4:156764841G>T	uc003ipe.1	-	5	900	c.853C>A	c.(853-855)CAA>AAA	p.Q285K		NM_017419	NP_059115	Q9NY37	ACCN5_HUMAN	amiloride-sensitive cation channel 5,	285	Extracellular (Potential).					integral to membrane|plasma membrane				ovary(2)|skin(1)	3	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.0464)|Kidney(143;0.058)|COAD - Colon adenocarcinoma(41;0.141)		ACCTTCACTTGGCGGATGGTT	0.443		NA											19	71					1.38e-21	2.08e-21	1	0
SORBS2	8470	broad.mit.edu	37	4	186545417	186545417	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr4:186545417T>C	uc003iyl.2	-	13	2012	c.1154A>G	c.(1153-1155)GAC>GGC	p.D385G	SORBS2_uc003iyh.2_Intron|SORBS2_uc011ckw.1_Intron|SORBS2_uc003iyi.2_Intron|SORBS2_uc011ckx.1_Intron|SORBS2_uc003iyk.2_Intron|SORBS2_uc003iym.2_Missense_Mutation_p.D485G|SORBS2_uc003iyn.1_Intron|SORBS2_uc011cku.1_Intron|SORBS2_uc011ckv.1_Missense_Mutation_p.D289G|SORBS2_uc003iyd.2_Intron|SORBS2_uc003iye.2_Intron|SORBS2_uc003iya.2_Intron|SORBS2_uc003iyb.2_Intron|SORBS2_uc003iyc.2_Intron|SORBS2_uc003iyg.2_Missense_Mutation_p.D499G|SORBS2_uc003iyf.2_Intron|SORBS2_uc003iyo.1_Intron	NM_021069	NP_066547	O94875	SRBS2_HUMAN	sorbin and SH3 domain containing 2 isoform 2	385						actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			ovary(1)	1		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		TAGGAGATCGTCACAGCTCCG	0.532		NA											12	36					0	0	0	0
MAP3K1	4214	broad.mit.edu	37	5	56152466	56152466	+	Silent	SNP	C	C	T			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr5:56152466C>T	uc003jqw.3	+	2	1023	c.522C>T	c.(520-522)CAC>CAT	p.H174H		NM_005921	NP_005912	Q13233	M3K1_HUMAN	mitogen-activated protein kinase kinase kinase	174					cellular response to mechanical stimulus|innate immune response|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|zinc ion binding			ovary(1)|skin(1)	2		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)		AAGGGTTGCACAAGATGGATG	0.403		NA											9	62					0	0	0	0
MAST4	375449	broad.mit.edu	37	5	66409957	66409957	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr5:66409957G>C	uc003jut.1	+	11	1002	c.934G>C	c.(934-936)GAA>CAA	p.E312Q	MAST4_uc003jus.2_Missense_Mutation_p.E312Q|MAST4_uc003juu.1_Missense_Mutation_p.E322Q|MAST4_uc011cra.1_Missense_Mutation_p.E295Q|MAST4_uc003juv.2_Missense_Mutation_p.E307Q|MAST4_uc003juw.2_Missense_Mutation_p.E307Q	NM_015183	NP_055998	O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase	504						cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			lung(6)|ovary(2)|kidney(2)|breast(2)|central_nervous_system(1)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		GGAAGCAGCAGAAGGCCATGC	0.438		NA											14	38					0	0	0	0
FAM169A	26049	broad.mit.edu	37	5	74077286	74077286	+	Nonstop_Mutation	SNP	C	C	G			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr5:74077286C>G	uc003kdm.2	-	13	2055	c.2012G>C	c.(2011-2013)TGA>TCA	p.*671S	FAM169A_uc010izm.2_Nonstop_Mutation_p.*611S|FAM169A_uc003kdl.2_Nonstop_Mutation_p.*489S	NM_015566	NP_056381	Q9Y6X4	F169A_HUMAN	hypothetical protein LOC26049	671											0						CTTCTTCCTTCAGGTCAGCTT	0.388		NA											29	120					0	0	0	0
COL4A3BP	10087	broad.mit.edu	37	5	74722220	74722220	+	Silent	SNP	A	A	T			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr5:74722220A>T	uc011csu.1	-	4	854	c.432T>A	c.(430-432)TCT>TCA	p.S144S	COL4A3BP_uc003kds.2_Silent_p.S144S|COL4A3BP_uc003kdt.2_Silent_p.S272S|COL4A3BP_uc003kdu.2_Silent_p.S144S	NM_005713	NP_005704	Q9Y5P4	C43BP_HUMAN	alpha 3 type IV collagen binding protein isoform	144					ER to Golgi ceramide transport|immune response	cytosol|endoplasmic reticulum membrane|Golgi apparatus	ceramide binding|phosphatidylinositol-4-phosphate binding|protein binding|protein kinase activity			skin(1)	1		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174)		OV - Ovarian serous cystadenocarcinoma(47;1e-53)		TGGATGTTGCAGAGTAGCCAC	0.398		NA											6	82					0	0	0	0
CATSPER3	347732	broad.mit.edu	37	5	134305780	134305780	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr5:134305780G>C	uc003lag.2	+	2	318	c.250G>C	c.(250-252)GAG>CAG	p.E84Q		NM_178019	NP_821138	Q86XQ3	CTSR3_HUMAN	cation channel, sperm associated 3	84	Helical; Name=Segment S2; (Potential).				cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	calcium channel activity|voltage-gated ion channel activity			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CAGACTTCTTGAGGTAAGCAG	0.294		NA											15	81					0	0	0	0
ANKHD1-EIF4EBP3	404734	broad.mit.edu	37	5	139825539	139825539	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr5:139825539C>G	uc003lfs.1	+	6	1250	c.1126C>G	c.(1126-1128)CTA>GTA	p.L376V	ANKHD1_uc003lfq.1_Missense_Mutation_p.L376V|ANKHD1_uc003lfr.2_Missense_Mutation_p.L376V|ANKHD1_uc003lfp.2_Missense_Mutation_p.L365V|ANKHD1_uc003lfo.2_Missense_Mutation_p.L376V|ANKHD1_uc010jfk.2_Missense_Mutation_p.L376V	NM_020690	NP_065741	Q8IWZ2	Q8IWZ2_HUMAN	ANKHD1-EIF4EBP3 protein	376						cytoplasm|nucleus	RNA binding			ovary(6)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGAAAGTGCTCTAACACTTGC	0.348		NA											7	21					0	0	0	0
PCDHB4	56131	broad.mit.edu	37	5	140502282	140502282	+	Silent	SNP	C	C	A			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr5:140502282C>A	uc003lip.1	+	1	702	c.702C>A	c.(700-702)ATC>ATA	p.I234I		NM_018938	NP_061761	Q9Y5E5	PCDB4_HUMAN	protocadherin beta 4 precursor	234	Cadherin 2.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding			upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCATGGACATCAATGACAATG	0.527		NA											23	105					3.62e-10	5.33e-10	1	0
PCDHGB5	56101	broad.mit.edu	37	5	140779967	140779967	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr5:140779967C>T	uc003lkf.1	+	1	2273	c.2273C>T	c.(2272-2274)ACG>ATG	p.T758M	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc011daw.1_Missense_Mutation_p.T758M|PCDHGA9_uc011dax.1_5'Flank|PCDHGA9_uc003lkh.1_5'Flank	NM_018925	NP_061748	Q9Y5G0	PCDGH_HUMAN	protocadherin gamma subfamily B, 5 isoform 1	758	Cytoplasmic (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)			ACAGGAAAGACGGAGTTTAAT	0.448		NA											66	267					0	0	0	0
PCDH1	5097	broad.mit.edu	37	5	141243981	141243981	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr5:141243981C>T	uc003llq.2	-	3	2032	c.1915G>A	c.(1915-1917)GGA>AGA	p.G639R	PCDH1_uc003llp.2_Missense_Mutation_p.G639R|PCDH1_uc011dbf.1_Missense_Mutation_p.G617R	NM_002587	NP_002578	Q08174	PCDH1_HUMAN	protocadherin 1 isoform 1 precursor	639	Extracellular (Potential).|Cadherin 6.				cell-cell signaling|homophilic cell adhesion|nervous system development	cell-cell junction|integral to plasma membrane	calcium ion binding			ovary(5)	5		Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;1.06e-05)		CCCTTGTCTCCATCAATGACA	0.517		NA											16	62					0	0	0	0
ODZ2	57451	broad.mit.edu	37	5	167419991	167419991	+	Silent	SNP	C	C	T			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr5:167419991C>T	uc010jjd.2	+	5	990	c.990C>T	c.(988-990)TTC>TTT	p.F330F	ODZ2_uc003lzq.2_Silent_p.F209F|ODZ2_uc003lzr.3_Silent_p.F139F	NM_001122679	NP_001116151			odz, odd Oz/ten-m homolog 2											ovary(6)|central_nervous_system(4)	10	Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242)	Medulloblastoma(196;0.0241)|all_neural(177;0.026)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124)		CACCCTTGTTCAGCAGCTCTT	0.567		NA											22	52					0	0	0	0
NSD1	64324	broad.mit.edu	37	5	176721768	176721768	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr5:176721768G>C	uc003mfr.3	+	23	7537	c.7399G>C	c.(7399-7401)GAG>CAG	p.E2467Q	NSD1_uc003mft.3_Missense_Mutation_p.E2198Q|NSD1_uc011dfx.1_Missense_Mutation_p.E2115Q	NM_022455	NP_071900	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	2467					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			ovary(2)|kidney(1)	3	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		TCGCCAGAAGGAGCGGGCAGC	0.502		NA	T	NUP98	AML		Sotos Syndrome		Beckwith-Wiedemann_syndrome|Sotos_syndrome|Weaver_syndrome	HNSCC(47;0.14)			13	60					0	0	0	0
JARID2	3720	broad.mit.edu	37	6	15508627	15508627	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr6:15508627C>G	uc003nbj.2	+	12	3032	c.2788C>G	c.(2788-2790)CGA>GGA	p.R930G	JARID2_uc011div.1_Missense_Mutation_p.R758G|JARID2_uc011diw.1_Missense_Mutation_p.R892G	NM_004973	NP_004964	Q92833	JARD2_HUMAN	jumonji, AT rich interactive domain 2 protein	930	JmjC.				central nervous system development|chromatin modification|negative regulation of histone methylation|positive regulation of histone H3-K9 methylation|stem cell differentiation|transcription, DNA-dependent		chromatin binding			ovary(2)|lung(1)|pancreas(1)	4	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)				ATGCTGGTCTCGAGACCAAAA	0.463		NA											12	47					0	0	0	0
KIAA0319	9856	broad.mit.edu	37	6	24596166	24596166	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr6:24596166C>G	uc011djo.1	-	3	973	c.736G>C	c.(736-738)GAG>CAG	p.E246Q	KIAA0319_uc011djp.1_Missense_Mutation_p.E201Q|KIAA0319_uc003neh.1_Missense_Mutation_p.E246Q|KIAA0319_uc011djq.1_Missense_Mutation_p.E237Q|KIAA0319_uc011djr.1_Missense_Mutation_p.E246Q	NM_014809	NP_055624	Q5VV43	K0319_HUMAN	KIAA0319 precursor	246	Extracellular (Potential).				negative regulation of dendrite development|neuron migration	early endosome membrane|integral to membrane|plasma membrane	protein binding			ovary(1)|skin(1)	2						TCCAACACCTCTCCTGAAGAT	0.527		NA											20	91					0	0	0	0
HIST1H2BH	8345	broad.mit.edu	37	6	26252092	26252092	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr6:26252092G>C	uc003nhh.2	+	1	214	c.214G>C	c.(214-216)GAG>CAG	p.E72Q	HIST1H3F_uc003nhg.1_5'Flank	NM_003524	NP_003515	Q93079	H2B1H_HUMAN	histone cluster 1, H2bh	72					nucleosome assembly	nucleosome|nucleus	DNA binding			ovary(3)	3						CGATATCTTCGAGCGCATCGC	0.577		NA											22	142					0	0	0	0
SCAND3	114821	broad.mit.edu	37	6	28554275	28554275	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr6:28554275G>A	uc003nlo.2	-	1	838	c.220C>T	c.(220-222)CGG>TGG	p.R74W	uc003nlp.1_5'Flank	NM_052923	NP_443155	Q6R2W3	SCND3_HUMAN	SCAN domain containing 3	74	SCAN box.				DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			ovary(1)	1						CAAAGTTCCCGCAGTTGACTC	0.542		NA											17	77					0	0	0	0
OR14J1	442191	broad.mit.edu	37	6	29274829	29274829	+	Silent	SNP	C	C	T			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr6:29274829C>T	uc011dln.1	+	1	363	c.363C>T	c.(361-363)TAC>TAT	p.Y121Y		NM_030946	NP_112208	Q9UGF5	O14J1_HUMAN	olfactory receptor, family 5, subfamily U member	121	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1						ATGACAGGTACGCAGCAATCT	0.478		NA											29	87					0	0	0	0
SKIV2L	6499	broad.mit.edu	37	6	31934521	31934521	+	Silent	SNP	C	C	T			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr6:31934521C>T	uc003nyn.1	+	19	2627	c.2238C>T	c.(2236-2238)CTC>CTT	p.L746L	SKIV2L_uc011dou.1_Silent_p.L588L|SKIV2L_uc011dov.1_Silent_p.L553L	NM_006929	NP_008860	Q15477	SKIV2_HUMAN	superkiller viralicidic activity 2-like homolog	746	Helicase C-terminal.					nucleus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			ovary(1)|large_intestine(1)|breast(1)|central_nervous_system(1)	4						AGTTCCGCCTCACGTACACTA	0.567		NA											23	124					0	0	0	0
SKIV2L	6499	broad.mit.edu	37	6	31934894	31934894	+	Silent	SNP	G	G	C			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr6:31934894G>C	uc003nyn.1	+	20	2843	c.2454G>C	c.(2452-2454)CTG>CTC	p.L818L	SKIV2L_uc011dou.1_Silent_p.L660L|SKIV2L_uc011dov.1_Silent_p.L625L	NM_006929	NP_008860	Q15477	SKIV2_HUMAN	superkiller viralicidic activity 2-like homolog	818						nucleus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			ovary(1)|large_intestine(1)|breast(1)|central_nervous_system(1)	4						GGGAGGAACTGACAGAGACCC	0.537		NA											16	77					0	0	0	0
SLC26A8	116369	broad.mit.edu	37	6	35980126	35980126	+	Missense_Mutation	SNP	C	C	T	rs116146081	by1000genomes	TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr6:35980126C>T	uc003olm.2	-	3	323	c.212G>A	c.(211-213)CGA>CAA	p.R71Q	SLC26A8_uc003oln.2_Missense_Mutation_p.R71Q|SLC26A8_uc003oll.2_Missense_Mutation_p.R71Q	NM_052961	NP_443193	Q96RN1	S26A8_HUMAN	solute carrier family 26, member 8 isoform a	71	Cytoplasmic (Potential).				cell differentiation|meiosis|multicellular organismal development|spermatogenesis	integral to membrane|plasma membrane	anion:anion antiporter activity|chloride channel activity|oxalate transmembrane transporter activity|protein binding|sulfate transmembrane transporter activity			ovary(2)	2						AAGCACGCATCGTAGGAACCT	0.463		NA											17	94					0	0	0	0
GPR115	221393	broad.mit.edu	37	6	47678616	47678616	+	Silent	SNP	C	C	G			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr6:47678616C>G	uc003oza.1	+	4	552	c.294C>G	c.(292-294)CTC>CTG	p.L98L	GPR115_uc003oyz.1_Silent_p.L155L|GPR115_uc003ozb.1_Silent_p.L96L	NM_153838	NP_722580	Q8IZF3	GP115_HUMAN	G-protein coupled receptor 115 precursor	98	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(3)|skin(3)|upper_aerodigestive_tract(1)|breast(1)	8						TGGAAAAACTCTTTAAGGTGA	0.373		NA											9	39					0	0	0	0
RAB23	51715	broad.mit.edu	37	6	57075104	57075104	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr6:57075104C>A	uc003pds.2	-	2	281	c.75G>T	c.(73-75)ATG>ATT	p.M25I	RAB23_uc003pdt.2_Missense_Mutation_p.M25I|RAB23_uc010kac.2_Missense_Mutation_p.M25I|RAB23_uc010kad.2_RNA	NM_183227	NP_899050	Q9ULC3	RAB23_HUMAN	Ras-related protein Rab-23	25					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding			skin(1)	1	Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			ATCGCTGAATCATACTTGATT	0.378		NA											21	79					7.45e-12	1.11e-11	1	0
AHI1	54806	broad.mit.edu	37	6	135787271	135787271	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr6:135787271C>A	uc003qgi.2	-	7	814	c.430G>T	c.(430-432)GAA>TAA	p.E144*	AHI1_uc003qgh.2_Nonsense_Mutation_p.E144*|AHI1_uc003qgj.2_Nonsense_Mutation_p.E144*|AHI1_uc003qgk.3_RNA|AHI1_uc003qgl.3_Nonsense_Mutation_p.E144*	NM_001134831	NP_001128303	Q8N157	AHI1_HUMAN	Abelson helper integration site 1 isoform a	144						adherens junction|cilium|microtubule basal body				ovary(1)|kidney(1)|central_nervous_system(1)	3	Breast(56;0.239)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00904)|OV - Ovarian serous cystadenocarcinoma(155;0.00991)		TCAGGAGTTTCCGGTTTCAGG	0.438		NA											37	107					3.04e-20	4.58e-20	1	0
SYNE1	23345	broad.mit.edu	37	6	152470722	152470722	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr6:152470722C>T	uc010kiw.2	-	136	25134	c.24532G>A	c.(24532-24534)GAG>AAG	p.E8178K	SYNE1_uc010kiv.2_Missense_Mutation_p.E2702K|SYNE1_uc003qos.3_Missense_Mutation_p.E2702K|SYNE1_uc003qot.3_Missense_Mutation_p.E8107K|SYNE1_uc003qou.3_Missense_Mutation_p.E8178K|SYNE1_uc003qop.3_Missense_Mutation_p.E340K|SYNE1_uc011eez.1_Missense_Mutation_p.E380K|SYNE1_uc003qoq.3_Missense_Mutation_p.E380K|SYNE1_uc003qor.3_Missense_Mutation_p.E1078K	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	8178	Spectrin 30.|Cytoplasmic (Potential).				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TCCAAGGGCTCACTCTTTTCT	0.478		NA								HNSCC(10;0.0054)			20	62					0	0	0	0
OSBPL3	26031	broad.mit.edu	37	7	24905839	24905839	+	Silent	SNP	G	G	A			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr7:24905839G>A	uc003sxf.2	-	6	804	c.399C>T	c.(397-399)GTC>GTT	p.V133V	OSBPL3_uc003sxd.2_RNA|OSBPL3_uc003sxe.2_RNA|OSBPL3_uc003sxg.2_Silent_p.V133V|OSBPL3_uc003sxh.2_Silent_p.V133V|OSBPL3_uc003sxi.2_Silent_p.V133V	NM_015550	NP_056365	Q9H4L5	OSBL3_HUMAN	oxysterol-binding protein-like protein 3 isoform	133	PH.				lipid transport		lipid binding|protein binding			skin(1)	1						ACTCATCAAAGACTTCTTCTG	0.388		NA											14	40					0	0	0	0
SUN3	256979	broad.mit.edu	37	7	48068470	48068470	+	Silent	SNP	G	G	A			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr7:48068470G>A	uc003tof.2	-	2	163	c.66C>T	c.(64-66)AGC>AGT	p.S22S	SUN3_uc003tog.2_Silent_p.S22S|SUN3_uc011kcf.1_5'UTR	NM_152782	NP_689995	Q8TAQ9	SUN3_HUMAN	Sad1 and UNC84 domain containing 1	22						integral to membrane				central_nervous_system(1)	1						TGGCGCTACCGCTGGCGTCTT	0.473		NA											25	87					0	0	0	0
FZD9	8326	broad.mit.edu	37	7	72849297	72849297	+	Silent	SNP	C	C	G			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr7:72849297C>G	uc003tyb.2	+	1	1189	c.960C>G	c.(958-960)CTC>CTG	p.L320L		NM_003508	NP_003499	O00144	FZD9_HUMAN	frizzled 9 precursor	320	Helical; Name=3; (Potential).				B cell differentiation|brain development|canonical Wnt receptor signaling pathway|embryo development|gonad development|neuroblast proliferation|vasculature development	cell surface|filopodium membrane|integral to membrane|perinuclear region of cytoplasm	G-protein coupled receptor activity|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|Wnt receptor activity|Wnt-protein binding			central_nervous_system(1)	1		Lung NSC(55;0.0659)|all_lung(88;0.152)				TCCTACTGCTCTACTACTTCG	0.667		NA											14	62					0	0	0	0
FZD9	8326	broad.mit.edu	37	7	72849453	72849453	+	Silent	SNP	C	C	T			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr7:72849453C>T	uc003tyb.2	+	1	1345	c.1116C>T	c.(1114-1116)GTC>GTT	p.V372V		NM_003508	NP_003499	O00144	FZD9_HUMAN	frizzled 9 precursor	372	Helical; Name=4; (Potential).				B cell differentiation|brain development|canonical Wnt receptor signaling pathway|embryo development|gonad development|neuroblast proliferation|vasculature development	cell surface|filopodium membrane|integral to membrane|perinuclear region of cytoplasm	G-protein coupled receptor activity|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|Wnt receptor activity|Wnt-protein binding			central_nervous_system(1)	1		Lung NSC(55;0.0659)|all_lung(88;0.152)				AGACCATCGTCATCCTGACCC	0.662		NA											24	42					0	0	0	0
PCLO	27445	broad.mit.edu	37	7	82763968	82763968	+	Silent	SNP	T	T	C			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr7:82763968T>C	uc003uhx.2	-	3	3187	c.2898A>G	c.(2896-2898)CAA>CAG	p.Q966Q	PCLO_uc003uhv.2_Silent_p.Q966Q	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	piccolo isoform 1	912	Pro-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			ovary(7)	7						GGGCAGGGGCTTGTTTCATTG	0.507		NA											9	41					0	0	0	0
PCLO	27445	broad.mit.edu	37	7	82785588	82785588	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr7:82785588C>G	uc003uhx.2	-	2	658	c.369G>C	c.(367-369)CAG>CAC	p.Q123H	PCLO_uc003uhv.2_Missense_Mutation_p.Q123H	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	piccolo isoform 1	123					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			ovary(7)	7						CAGGCAATTTCTGCTCTGACC	0.483		NA											15	76					0	0	0	0
COL1A2	1278	broad.mit.edu	37	7	94057185	94057185	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr7:94057185G>C	uc003ung.1	+	49	3985	c.3514G>C	c.(3514-3516)GAG>CAG	p.E1172Q	COL1A2_uc011kib.1_Intron	NM_000089	NP_000080	P08123	CO1A2_HUMAN	alpha 2 type I collagen precursor	1172	Fibrillar collagen NC1.				axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging		COL1A2/PLAG1(3)	soft_tissue(3)|central_nervous_system(3)|ovary(2)|skin(1)	9	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	CAGCCACCCAGAGTGGAGCAG	0.468		NA								HNSCC(75;0.22)			4	27					0	0	0	0
GAL3ST4	79690	broad.mit.edu	37	7	99757817	99757817	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr7:99757817G>A	uc003utt.2	-	3	2212	c.1195C>T	c.(1195-1197)CGC>TGC	p.R399C	C7orf43_uc010lgp.2_5'Flank|C7orf43_uc011kjj.1_5'Flank|C7orf43_uc003utr.2_5'Flank|C7orf43_uc003uts.2_5'Flank|GAL3ST4_uc003utu.2_Missense_Mutation_p.R399C|GAL3ST4_uc010lgq.2_Missense_Mutation_p.R337C	NM_024637	NP_078913	Q96RP7	G3ST4_HUMAN	galactose-3-O-sulfotransferase 4	399	Lumenal (Potential).				cell-cell signaling|oligosaccharide metabolic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi cisterna membrane|integral to membrane|membrane fraction	3'-phosphoadenosine 5'-phosphosulfate binding|galactosylceramide sulfotransferase activity|proteoglycan sulfotransferase activity			ovary(3)	3	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GCCTCTCGGCGAGCCCGGAGC	0.612		NA											36	102					0	0	0	0
CFTR	1080	broad.mit.edu	37	7	117149168	117149168	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr7:117149168T>A	uc003vjd.2	+	3	377	c.245T>A	c.(244-246)ATG>AAG	p.M82K	CFTR_uc011knq.1_5'UTR	NM_000492	NP_000483	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance	82	Helical; Name=1; (Potential).|ABC transmembrane type-1 1.				respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding			central_nervous_system(2)|skin(2)|ovary(1)	5	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Glibenclamide(DB01016)	TGGAGATTTATGTTCTATGGA	0.318		NA							Cystic_Fibrosis				22	103					0	0	0	0
FEZF1	389549	broad.mit.edu	37	7	121943869	121943869	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr7:121943869G>A	uc003vkd.2	-	1	697	c.623C>T	c.(622-624)GCG>GTG	p.A208V	FEZF1_uc003vkc.2_Missense_Mutation_p.A158V|uc010lko.1_RNA|uc003vkf.1_5'Flank	NM_001024613	NP_001019784	A0PJY2	FEZF1_HUMAN	FEZ family zinc finger 1 isoform 1	208					cell differentiation|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)|breast(1)	3						TTTCTCCACCGCCGGGACCAC	0.527		NA											17	54					0	0	0	0
IQUB	154865	broad.mit.edu	37	7	123097516	123097516	+	Silent	SNP	G	G	T			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr7:123097516G>T	uc003vkn.2	-	12	2689	c.2112C>A	c.(2110-2112)TCC>TCA	p.S704S	IQUB_uc011kny.1_Silent_p.S37S|IQUB_uc003vko.2_Silent_p.S704S|IQUB_uc010lkt.2_RNA	NM_178827	NP_849149	Q8NA54	IQUB_HUMAN	IQ motif and ubiquitin domain containing	704										ovary(3)|large_intestine(1)	4						ACCACTCCAGGGATTTATTCC	0.453		NA											24	112					8.25e-16	1.24e-15	1	0
TPK1	27010	broad.mit.edu	37	7	144380027	144380027	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr7:144380027C>G	uc003weq.2	-	4	263	c.160G>C	c.(160-162)GAT>CAT	p.D54H	TPK1_uc003weo.2_Missense_Mutation_p.M8I|TPK1_uc003wep.2_RNA|TPK1_uc003wer.2_Missense_Mutation_p.D54H|TPK1_uc003wes.2_RNA	NM_022445	NP_071890	Q9H3S4	TPK1_HUMAN	thiamin pyrophosphokinase 1 isoform a	54					thiamine diphosphate biosynthetic process	cytosol	ATP binding|kinase activity|thiamine diphosphokinase activity			ovary(2)	2					Thiamine(DB00152)	TCGGTGATATCATATAAGCGG	0.378		NA											42	142					0	0	0	0
GIMAP5	55340	broad.mit.edu	37	7	150439312	150439312	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr7:150439312A>G	uc003whr.1	+	3	437	c.85A>G	c.(85-87)AGG>GGG	p.R29G	GIMAP5_uc010lpu.2_5'UTR	NM_018384	NP_060854	Q96F15	GIMA5_HUMAN	GTPase, IMAP family member 5	29	Cytoplasmic (Potential).					integral to membrane|mitochondrial outer membrane	GTP binding			ovary(1)|central_nervous_system(1)	2			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		ACCGGCATTGAGGATTATCCT	0.468		NA											3	60					0	0	0	0
MLL3	58508	broad.mit.edu	37	7	152012253	152012253	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr7:152012253G>C	uc003wla.2	-	4	779	c.560C>G	c.(559-561)TCA>TGA	p.S187*		NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 3	187					intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	63	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		TCGTGGTGCTGAGTTTTGCAT	0.353		NA	N		medulloblastoma								23	88					0	0	0	0
PXDNL	137902	broad.mit.edu	37	8	52252221	52252221	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr8:52252221G>C	uc003xqu.3	-	21	4210	c.4109C>G	c.(4108-4110)GCG>GGG	p.A1370G	PXDNL_uc003xqt.3_Intron	NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog-like precursor	1370					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)				CTGAATTTCCGCTGCAAACGT	0.368		NA											21	108					0	0	0	0
SLC7A13	157724	broad.mit.edu	37	8	87230021	87230021	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr8:87230021G>A	uc003ydq.1	-	3	955	c.857C>T	c.(856-858)TCA>TTA	p.S286L	SLC7A13_uc003ydr.1_Missense_Mutation_p.S277L	NM_138817	NP_620172	Q8TCU3	S7A13_HUMAN	solute carrier family 7, (cationic amino acid	286	Extracellular (Potential).					integral to membrane	amino acid transmembrane transporter activity			central_nervous_system(1)	1						CCATGCTAATGAGGGAAAAGC	0.333		NA											27	73					0	0	0	0
CDH17	1015	broad.mit.edu	37	8	95172204	95172204	+	Nonsense_Mutation	SNP	T	T	A			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr8:95172204T>A	uc003ygh.2	-	12	1671	c.1546A>T	c.(1546-1548)AAA>TAA	p.K516*	CDH17_uc011lgo.1_Nonsense_Mutation_p.K302*|CDH17_uc011lgp.1_Nonsense_Mutation_p.K516*	NM_004063	NP_004054	Q12864	CAD17_HUMAN	cadherin 17 precursor	516	Extracellular (Potential).|Cadherin 5.					integral to membrane	calcium ion binding			ovary(5)|skin(1)	6	Breast(36;4.65e-06)		BRCA - Breast invasive adenocarcinoma(8;0.00691)			TTTACCTTTTTAATTATGACA	0.378		NA											8	81					0	0	0	0
MTBP	27085	broad.mit.edu	37	8	121473491	121473491	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr8:121473491G>C	uc003ypc.1	+	9	1018	c.973G>C	c.(973-975)GAG>CAG	p.E325Q	MTBP_uc011lie.1_RNA	NM_022045	NP_071328	Q96DY7	MTBP_HUMAN	Mdm2, transformed 3T3 cell double minute 2, p53	325					cell cycle arrest					skin(2)|ovary(1)	3	Lung NSC(37;5.68e-08)|Ovarian(258;0.00769)|all_neural(195;0.0804)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00503)			TATTGAATTTGAGTTGTATCC	0.323		NA											13	42					0	0	0	0
PTPRD	5789	broad.mit.edu	37	9	8518241	8518241	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr9:8518241T>G	uc003zkk.2	-	20	1861	c.1150A>C	c.(1150-1152)AGT>CGT	p.S384R	PTPRD_uc003zkp.2_Missense_Mutation_p.S384R|PTPRD_uc003zkq.2_Missense_Mutation_p.S384R|PTPRD_uc003zkr.2_Missense_Mutation_p.S378R|PTPRD_uc003zks.2_Missense_Mutation_p.S374R|PTPRD_uc003zkl.2_Missense_Mutation_p.S384R|PTPRD_uc003zkm.2_Missense_Mutation_p.S371R|PTPRD_uc003zkn.2_Missense_Mutation_p.S384R|PTPRD_uc003zko.2_Missense_Mutation_p.S381R	NM_002839	NP_002830	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	384	Fibronectin type-III 1.|Extracellular (Potential).				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			lung(14)|large_intestine(3)|ovary(2)|breast(2)|urinary_tract(1)	22		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		GAGTAGGGACTTAGTCCAGCG	0.463		NA								TSP Lung(15;0.13)			24	159					0	0	0	0
CDKN2A	1029	broad.mit.edu	37	9	21974696	21974696	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr9:21974696T>C	uc003zpk.2	-	1	343	c.131A>G	c.(130-132)TAC>TGC	p.Y44C	MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.2_Missense_Mutation_p.Y44C|CDKN2A_uc010miu.2_RNA|CDKN2A_uc003zpl.2_Intron	NM_000077	NP_000068	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A isoform 1	44	ANK 2.				cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein binding|protein kinase binding	p.0?(1112)|p.?(25)|p.Y44*(3)|p.Y44fs*1(1)|p.Y44fs*76(1)|p.V28_V51del(1)|p.Y44S(1)		haematopoietic_and_lymphoid_tissue(647)|skin(419)|upper_aerodigestive_tract(414)|central_nervous_system(381)|lung(325)|pancreas(244)|oesophagus(230)|urinary_tract(225)|pleura(94)|liver(91)|soft_tissue(79)|bone(77)|ovary(76)|biliary_tract(71)|stomach(46)|breast(46)|kidney(39)|NS(28)|thyroid(24)|cervix(23)|meninges(18)|genital_tract(15)|endometrium(13)|prostate(11)|autonomic_ganglia(10)|salivary_gland(10)|large_intestine(9)|adrenal_gland(6)|eye(4)|vulva(2)|small_intestine(1)	3678		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		CCTCCGACCGTAACTATTCGG	0.687		17							Uveal_Melanoma_Familial|Familial_Malignant_Melanoma_and_Tumors_of_the_Nervous_System|Hereditary_Melanoma	HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			38	135					0	0	0	0
TAF1L	138474	broad.mit.edu	37	9	32630264	32630264	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr9:32630264C>T	uc003zrg.1	-	1	5404	c.5314G>A	c.(5314-5316)GAT>AAT	p.D1772N		NM_153809	NP_722516	Q8IZX4	TAF1L_HUMAN	TBP-associated factor RNA polymerase 1-like	1772					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding			lung(8)|skin(6)|central_nervous_system(4)|large_intestine(3)|ovary(2)|stomach(1)|breast(1)|pancreas(1)	26			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		TCTTCCTCATCATCTTCTCCT	0.463		NA											25	103					0	0	0	0
FAM75A6	389730	broad.mit.edu	37	9	43627785	43627785	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr9:43627785G>T	uc011lrb.1	-	4	931	c.902C>A	c.(901-903)CCT>CAT	p.P301H		NM_001145196	NP_001138668	Q5VVP1	F75A6_HUMAN	hypothetical protein LOC389730	301						integral to membrane					0						GCGGGAAAGAGGATCTTGCTG	0.547		NA											6	149					3.6e-05	4.97e-05	1	0
DAPK1	1612	broad.mit.edu	37	9	90296352	90296352	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr9:90296352C>T	uc004apc.2	+	20	2173	c.2035C>T	c.(2035-2037)CGA>TGA	p.R679*	DAPK1_uc004apd.2_Nonsense_Mutation_p.R679*|DAPK1_uc011ltg.1_Nonsense_Mutation_p.R679*|DAPK1_uc011lth.1_Nonsense_Mutation_p.R416*|DAPK1_uc004apf.1_Nonsense_Mutation_p.R233*	NM_004938	NP_004929	P53355	DAPK1_HUMAN	death-associated protein kinase 1	679					apoptosis|induction of apoptosis by extracellular signals|intracellular protein kinase cascade	actin cytoskeleton|cytoplasm	ATP binding|calmodulin binding|protein serine/threonine kinase activity			ovary(1)|breast(1)	2						CCAGCAGCTCCGACCCACACA	0.502		NA							Chronic_Lymphocytic_Leukemia_Familial_Clustering_of				32	136					0	0	0	0
SHC3	53358	broad.mit.edu	37	9	91653163	91653163	+	Silent	SNP	G	G	T	rs146503115		TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr9:91653163G>T	uc004aqg.2	-	11	1708	c.1401C>A	c.(1399-1401)CCC>CCA	p.P467P		NM_016848	NP_058544	Q92529	SHC3_HUMAN	src homology 2 domain-containing transforming	467	CH1.				central nervous system development|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol	protein binding|signal transducer activity			lung(3)|skin(1)	4						TGCTTAACACGGGCCCCAAGG	0.502		NA											19	69					2.46e-09	3.6e-09	1	0
DFNB31	25861	broad.mit.edu	37	9	117187294	117187294	+	Missense_Mutation	SNP	C	C	T	rs138164522		TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr9:117187294C>T	uc004biz.3	-	5	1826	c.1177G>A	c.(1177-1179)GAT>AAT	p.D393N	DFNB31_uc004bix.2_Missense_Mutation_p.D42N|DFNB31_uc004biy.3_Missense_Mutation_p.D10N|DFNB31_uc004bja.3_Missense_Mutation_p.D393N	NM_015404	NP_056219	Q9P202	WHRN_HUMAN	CASK-interacting protein CIP98 isoform 1	393					inner ear receptor stereocilium organization|retina homeostasis|sensory perception of light stimulus|sensory perception of sound	cytoplasm|growth cone|stereocilium				ovary(4)|central_nervous_system(1)|pancreas(1)	6						GTTGTGAGATCGCCAAGAAAC	0.537		NA											30	90					0	0	0	0
ODF2	4957	broad.mit.edu	37	9	131254985	131254985	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr9:131254985G>A	uc011mbd.1	+	16	1964	c.1653G>A	c.(1651-1653)ATG>ATA	p.M551I	ODF2_uc011maz.1_Missense_Mutation_p.M551I|ODF2_uc011mbb.1_Missense_Mutation_p.M485I|ODF2_uc011mbc.1_Missense_Mutation_p.M470I|ODF2_uc004bva.2_Missense_Mutation_p.M504I|ODF2_uc004bvb.2_Missense_Mutation_p.M527I|ODF2_uc011mbe.1_Missense_Mutation_p.M546I|ODF2_uc004bvc.2_Missense_Mutation_p.M527I|ODF2_uc011mbf.1_Missense_Mutation_p.M532I|ODF2_uc004bvd.3_Missense_Mutation_p.M551I|ODF2_uc004bve.2_Missense_Mutation_p.M532I	NM_002540	NP_002531	Q5BJF6	ODFP2_HUMAN	outer dense fiber of sperm tails 2 isoform 1	551	Potential.				cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis	centriole|cilium|cytosol|microtubule|spindle pole	protein binding|structural molecule activity			ovary(1)	1						CCTAGGTGATGAAGACCAGAT	0.483		NA											6	31					0	0	0	0
ODF2	4957	broad.mit.edu	37	9	131254993	131254993	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr9:131254993G>A	uc011mbd.1	+	16	1972	c.1661G>A	c.(1660-1662)AGA>AAA	p.R554K	ODF2_uc011maz.1_Missense_Mutation_p.R554K|ODF2_uc011mbb.1_Missense_Mutation_p.R488K|ODF2_uc011mbc.1_Missense_Mutation_p.R473K|ODF2_uc004bva.2_Missense_Mutation_p.R507K|ODF2_uc004bvb.2_Missense_Mutation_p.R530K|ODF2_uc011mbe.1_Missense_Mutation_p.R549K|ODF2_uc004bvc.2_Missense_Mutation_p.R530K|ODF2_uc011mbf.1_Missense_Mutation_p.R535K|ODF2_uc004bvd.3_Missense_Mutation_p.R554K|ODF2_uc004bve.2_Missense_Mutation_p.R535K	NM_002540	NP_002531	Q5BJF6	ODFP2_HUMAN	outer dense fiber of sperm tails 2 isoform 1	554	Potential.				cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis	centriole|cilium|cytosol|microtubule|spindle pole	protein binding|structural molecule activity			ovary(1)	1						ATGAAGACCAGATTGGAGGCT	0.473		NA											6	29					0	0	0	0
LAMC3	10319	broad.mit.edu	37	9	133967144	133967145	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr9:133967144_133967145CC>AA	uc004caa.1	+	28	4796_4797	c.4698_4699CC>AA	c.(4696-4701)AGCCTG>AGAATG	p.1566_1567SL>RM	LAMC3_uc010mze.1_Missense_Mutation_p.254_255SL>RM	NM_006059	NP_006050	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3 precursor	1566_1567	Domain II and I.|Potential.				cell adhesion	basement membrane|membrane	structural molecule activity			ovary(2)|pancreas(1)	3	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		TTCTGCACAGCCTGCCCGAGAA	0.634		NA											11	27					0	0	0	0
C9orf171	389799	broad.mit.edu	37	9	135413023	135413023	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr9:135413023G>T	uc004cbn.2	+	5	716	c.668G>T	c.(667-669)CGG>CTG	p.R223L	C9orf171_uc004cbo.2_Missense_Mutation_p.R187L	NM_207417	NP_997300	Q6ZQR2	CI171_HUMAN	hypothetical protein LOC389799	223										ovary(4)|large_intestine(1)	5						CTGCAGCACCGGTACCTGCAG	0.572		NA											21	94					5.45e-15	8.17e-15	1	0
KIAA0649	9858	broad.mit.edu	37	9	138379081	138379081	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr9:138379081G>C	uc004cfr.1	+	4	3274	c.2725G>C	c.(2725-2727)GAG>CAG	p.E909Q		NM_014811	NP_055626	Q5T8A7	K0649_HUMAN	1A6/DRIM (down-regulated in metastasis)	909						nucleolus	protein binding			ovary(2)|central_nervous_system(1)	3				OV - Ovarian serous cystadenocarcinoma(145;6.91e-08)|Epithelial(140;4.69e-07)|all cancers(34;9.33e-06)		TCGAGGCACAGAGAGCGCAGG	0.706		NA											17	85					0	0	0	0
MXRA5	25878	broad.mit.edu	37	X	3238066	3238066	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chrX:3238066C>A	uc004crg.3	-	5	5817	c.5660G>T	c.(5659-5661)TGG>TTG	p.W1887L		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	adlican precursor	1887	Ig-like C2-type 3.					extracellular region				ovary(5)|lung(1)|central_nervous_system(1)|skin(1)	8		all_lung(23;0.00031)|Lung NSC(23;0.000946)				AACCTTTGTCCAAGTAACGAA	0.393		NA											16	58					0.00074312	0.000996512	1	0
ARHGAP6	395	broad.mit.edu	37	X	11197434	11197434	+	Missense_Mutation	SNP	T	T	C	rs147456861		TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chrX:11197434T>C	uc004cup.1	-	7	2341	c.1468A>G	c.(1468-1470)ATC>GTC	p.I490V	ARHGAP6_uc004cuo.1_RNA|ARHGAP6_uc004cur.1_Missense_Mutation_p.I490V|ARHGAP6_uc004cum.1_Missense_Mutation_p.I287V|ARHGAP6_uc004cun.1_Missense_Mutation_p.I310V|ARHGAP6_uc010neb.1_Missense_Mutation_p.I312V|ARHGAP6_uc011mif.1_Missense_Mutation_p.I287V	NM_013427	NP_038286	O43182	RHG06_HUMAN	Rho GTPase activating protein 6 isoform 1	490	Rho-GAP.				actin filament polymerization|activation of phospholipase C activity|negative regulation of focal adhesion assembly|negative regulation of stress fiber assembly|Rho protein signal transduction	actin filament|cytosol	phospholipase activator activity|phospholipase binding|Rho GTPase activator activity|SH3 domain binding|SH3/SH2 adaptor activity			urinary_tract(1)|lung(1)	2						AGAGTGTTGATGAAAGCTGTG	0.483		NA											29	93					0	0	0	0
DMD	1756	broad.mit.edu	37	X	32366610	32366610	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chrX:32366610G>T	uc004dda.1	-	38	5605	c.5361C>A	c.(5359-5361)AAC>AAA	p.N1787K	DMD_uc004dcw.2_Missense_Mutation_p.N443K|DMD_uc004dcx.2_Missense_Mutation_p.N446K|DMD_uc004dcz.2_Missense_Mutation_p.N1664K|DMD_uc004dcy.1_Missense_Mutation_p.N1783K|DMD_uc004ddb.1_Missense_Mutation_p.N1779K|DMD_uc010ngo.1_Intron	NM_004006	NP_003997	P11532	DMD_HUMAN	dystrophin Dp427m isoform	1787	Interaction with SYNM (By similarity).				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			ovary(3)|pancreas(2)|large_intestine(1)	6		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				GTATATCTGAGTTAAACTGCT	0.333		NA											9	40					1.13e-05	1.58e-05	1	0
XK	7504	broad.mit.edu	37	X	37586996	37586996	+	Silent	SNP	C	C	T			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chrX:37586996C>T	uc004ddq.2	+	3	698	c.616C>T	c.(616-618)CTG>TTG	p.L206L		NM_021083	NP_066569	P51811	XK_HUMAN	membrane transport protein XK	206	Extracellular (Potential).				amino acid transport	integral to membrane	protein binding|transporter activity				0		all_lung(315;0.175)				AGTGAAGCCTCTGGCCTATGT	0.493		NA											10	39					0	0	0	0
ERAS	3266	broad.mit.edu	37	X	48687838	48687838	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chrX:48687838A>T	uc004dky.1	+	1	556	c.305A>T	c.(304-306)CAT>CTT	p.H102L		NM_181532	NP_853510	Q7Z444	RASE_HUMAN	ES cell expressed Ras precursor	102					small GTPase mediated signal transduction	intracellular|plasma membrane	GTP binding|GTPase activity			lung(4)|urinary_tract(1)	5						CAGGCCATCCATAGGGCCCTG	0.597		NA											20	83					0	0	0	0
WNK3	65267	broad.mit.edu	37	X	54337720	54337720	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chrX:54337720C>G	uc004dtd.1	-	3	981	c.542G>C	c.(541-543)CGA>CCA	p.R181P	WNK3_uc004dtc.1_Missense_Mutation_p.R181P	NM_001002838	NP_001002838	Q9BYP7	WNK3_HUMAN	WNK lysine deficient protein kinase 3 isoform 2	181	Protein kinase.				intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation	adherens junction|tight junction	ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity			lung(4)|ovary(3)|kidney(2)|central_nervous_system(2)	11						GGTTAACTTTCGGTCCTGAAA	0.378		NA											8	18					0	0	0	0
RRAGB	10325	broad.mit.edu	37	X	55757890	55757890	+	Silent	SNP	C	C	T			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chrX:55757890C>T	uc004dup.2	+	6	1122	c.471C>T	c.(469-471)AGC>AGT	p.S157S	RRAGB_uc004duq.2_Silent_p.S129S	NM_016656	NP_057740	Q5VZM2	RRAGB_HUMAN	Ras-related GTP binding B long isoform	157					cellular protein localization|cellular response to amino acid stimulus|positive regulation of TOR signaling cascade|signal transduction	Golgi apparatus|lysosome|nucleus	GTP binding|protein binding				0						ATGTGGAGAGCCGCGAACTGG	0.433		NA											3	19					0	0	0	0
ACRC	93953	broad.mit.edu	37	X	70824232	70824232	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chrX:70824232G>A	uc004eae.2	+	8	1606	c.1105G>A	c.(1105-1107)GAT>AAT	p.D369N	BCYRN1_uc011mpt.1_Intron	NM_052957	NP_443189	Q96QF7	ACRC_HUMAN	ACRC protein	369						nucleus				ovary(3)	3	Renal(35;0.156)					TTCATCTGATGATGCTGGTGA	0.483		NA											11	43					0	0	0	0
MAGEE1	57692	broad.mit.edu	37	X	75649321	75649321	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chrX:75649321C>T	uc004ecm.1	+	1	1205	c.998C>T	c.(997-999)CCG>CTG	p.P333L		NM_020932	NP_065983	Q9HCI5	MAGE1_HUMAN	melanoma antigen family E, 1	333	Pro-rich.					dendrite|nucleus|perinuclear region of cytoplasm|postsynaptic membrane				breast(3)|ovary(1)|pancreas(1)|skin(1)	6						ACCTCCGTGCCGCCCACCGCC	0.697		NA											9	32					0	0	0	0
ACSL4	2182	broad.mit.edu	37	X	108926454	108926454	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chrX:108926454A>T	uc004eoi.2	-	4	767	c.262T>A	c.(262-264)TCC>ACC	p.S88T	ACSL4_uc004eoj.2_Missense_Mutation_p.S47T|ACSL4_uc004eok.2_Missense_Mutation_p.S47T|ACSL4_uc010npp.1_Missense_Mutation_p.S88T	NM_022977	NP_075266	O60488	ACSL4_HUMAN	acyl-CoA synthetase long-chain family member 4	88	Cytoplasmic (Potential).				fatty acid metabolic process|learning or memory|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity			large_intestine(1)|lung(1)|ovary(1)	3					Icosapent(DB00159)|Troglitazone(DB00197)	CCAAACTTGGATACAGCATGG	0.413		NA											35	140					0	0	0	0
DCAF12L2	340578	broad.mit.edu	37	X	125299536	125299536	+	Silent	SNP	G	G	A			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chrX:125299536G>A	uc004euk.1	-	1	399	c.372C>T	c.(370-372)GAC>GAT	p.D124D		NM_001013628	NP_001013650	Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	124										lung(2)|skin(2)|large_intestine(1)|pancreas(1)|ovary(1)	7						CTGACTGCACGTCCACCACAA	0.642		NA											11	91					0	0	0	0
ZNF449	203523	broad.mit.edu	37	X	134493848	134493848	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chrX:134493848C>G	uc004eys.2	+	4	756	c.591C>G	c.(589-591)TTC>TTG	p.F197L	ZNF449_uc004eyt.2_Missense_Mutation_p.F77L|ZNF449_uc004eyu.2_Missense_Mutation_p.F3L	NM_152695	NP_689908	Q6P9G9	ZN449_HUMAN	zinc finger protein 449	197					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)	2	Acute lymphoblastic leukemia(192;6.56e-05)					ACATGAACTTCTCATTGGAGA	0.363		NA											33	91					0	0	0	0
ATP11C	286410	broad.mit.edu	37	X	138871517	138871517	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chrX:138871517C>T	uc004faz.2	-	13	1445	c.1346G>A	c.(1345-1347)GGA>GAA	p.G449E	ATP11C_uc004fay.2_RNA|ATP11C_uc004fba.2_Missense_Mutation_p.G449E	NM_173694	NP_775965	Q8NB49	AT11C_HUMAN	ATPase, class VI, type 11C isoform a	449	Cytoplasmic (Potential).				ATP biosynthetic process	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			ovary(5)|large_intestine(3)	8	Acute lymphoblastic leukemia(192;0.000127)					TGTTAAAGTTCCATCAGTTTG	0.328		NA											11	44					0	0	0	0
MAGEC2	51438	broad.mit.edu	37	X	141290746	141290746	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chrX:141290746C>G	uc004fbu.1	-	3	1376	c.1028G>C	c.(1027-1029)AGA>ACA	p.R343T		NM_016249	NP_057333	Q9UBF1	MAGC2_HUMAN	melanoma antigen family C, 2	343						cytoplasm|nucleus				breast(2)	2	Acute lymphoblastic leukemia(192;6.56e-05)					GGCCTGGACTCTCTCTTCCAC	0.453		NA								HNSCC(46;0.14)			30	135					0	0	0	0
SLITRK4	139065	broad.mit.edu	37	X	142717244	142717244	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chrX:142717244C>T	uc004fbx.2	-	2	2057	c.1681G>A	c.(1681-1683)GAG>AAG	p.E561K	SLITRK4_uc004fby.2_Missense_Mutation_p.E561K	NM_173078	NP_775101	Q8IW52	SLIK4_HUMAN	slit and trk like 4 protein precursor	561	Extracellular (Potential).|LRRCT 2.					integral to membrane				upper_aerodigestive_tract(1)|large_intestine(1)	2	Acute lymphoblastic leukemia(192;6.56e-05)					ACAGGCGTCTCACATTTCAGT	0.458		NA											35	123					0	0	0	0
ARHGAP4	393	broad.mit.edu	37	X	153178184	153178184	+	Silent	SNP	G	G	C			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chrX:153178184G>C	uc004fjk.1	-	12	1554	c.1512C>G	c.(1510-1512)CTC>CTG	p.L504L	ARHGAP4_uc004fjj.1_5'Flank|ARHGAP4_uc011mzf.1_Silent_p.L481L|ARHGAP4_uc004fjl.1_Silent_p.L544L|ARHGAP4_uc010nup.1_RNA	NM_001666	NP_001657	P98171	RHG04_HUMAN	Rho GTPase activating protein 4 isoform 2	504					apoptosis|cytoskeleton organization|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|Rho protein signal transduction	cytosol|focal adhesion|nucleus	Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			central_nervous_system(1)	1	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CTCCCCCAAAGAGTCTCTGGT	0.552		NA											33	115					0	0	0	0
ARHGAP4	393	broad.mit.edu	37	X	153178994	153178994	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chrX:153178994C>T	uc004fjk.1	-	9	1237	c.1195G>A	c.(1195-1197)GGG>AGG	p.G399R	ARHGAP4_uc004fjj.1_5'Flank|ARHGAP4_uc011mzf.1_Missense_Mutation_p.G376R|ARHGAP4_uc004fjl.1_Missense_Mutation_p.G439R|ARHGAP4_uc010nup.1_RNA	NM_001666	NP_001657	P98171	RHG04_HUMAN	Rho GTPase activating protein 4 isoform 2	399					apoptosis|cytoskeleton organization|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|Rho protein signal transduction	cytosol|focal adhesion|nucleus	Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			central_nervous_system(1)	1	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					AGCACATCCCCGTCATCCGAG	0.657		NA											25	68					0	0	0	0
ATAD3A	55210	broad.mit.edu	37	1	1463191	1463192	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr1:1463191_1463192insG	uc001afz.1	+	14	1692_1693	c.1598_1599insG	c.(1597-1599)GTGfs	p.V533fs	ATAD3A_uc001aga.1_Frame_Shift_Ins_p.V485fs|ATAD3A_uc001agb.1_Frame_Shift_Ins_p.V406fs	NM_018188	NP_060658	Q9NVI7	ATD3A_HUMAN	ATPase family, AAA domain containing 3A	533							ATP binding|nucleoside-triphosphatase activity|protein binding			skin(1)	1	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;1.12e-36)|OV - Ovarian serous cystadenocarcinoma(86;2.18e-22)|Colorectal(212;0.000164)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00233)|BRCA - Breast invasive adenocarcinoma(365;0.00469)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0347)|Lung(427;0.147)		GAGCGCCTGGTGAGAATGTATT	0.589		NA											24	121	---	---	---	---	NA	NA	NA	NA
FAM5C	339479	broad.mit.edu	37	1	190067931	190067941	+	Frame_Shift_Del	DEL	TCTGTCCGTTT	TCTGTCCGTTT	-			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr1:190067931_190067941delTCTGTCCGTTT	uc001gse.1	-	8	1740_1750	c.1508_1518delAAACGGACAGA	c.(1507-1518)AAAACGGACAGAfs	p.K503fs	FAM5C_uc010pot.1_Frame_Shift_Del_p.K401fs	NM_199051	NP_950252	Q76B58	FAM5C_HUMAN	family with sequence similarity 5, member C	503_506						extracellular region				lung(2)|ovary(1)|kidney(1)|skin(1)	5	Prostate(682;0.198)					CTTCTATTCGTCTGTCCGTTTTCTGCAGCAG	0.498		NA											17	134	---	---	---	---	NA	NA	NA	NA
PCF11	51585	broad.mit.edu	37	11	82880841	82880841	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr11:82880841delA	uc001ozx.3	+	8	3809	c.3464delA	c.(3463-3465)CATfs	p.H1155fs	PCF11_uc010rsu.1_Frame_Shift_Del_p.H1286fs	NM_015885	NP_056969	O94913	PCF11_HUMAN	pre-mRNA cleavage complex II protein Pcf11	1155					mRNA 3'-end processing|mRNA cleavage|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage factor complex				ovary(1)	1						TTCCAAAGACATGAACAAATA	0.418		NA											16	42	---	---	---	---	NA	NA	NA	NA
DPY19L2	283417	broad.mit.edu	37	12	64061889	64061890	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr12:64061889_64061890insT	uc001srp.1	-	1	465_466	c.284_285insA	c.(283-285)AAGfs	p.K95fs	DPY19L2_uc009zqk.1_RNA	NM_173812	NP_776173	Q6NUT2	D19L2_HUMAN	dpy-19-like 2	95					multicellular organismal development|spermatid development	integral to membrane				central_nervous_system(1)|skin(1)	2			GBM - Glioblastoma multiforme(1;2.77e-05)	GBM - Glioblastoma multiforme(28;0.044)		GTTCCTGCACCTTTTCCCGGAG	0.609		NA											8	125	---	---	---	---	NA	NA	NA	NA
C18orf34	374864	broad.mit.edu	37	18	30913142	30913143	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr18:30913142_30913143insT	uc002kxn.2	-	9	1016_1017	c.874_875insA	c.(874-876)ATGfs	p.M292fs	C18orf34_uc010xbr.1_Frame_Shift_Ins_p.M292fs|C18orf34_uc010dmf.1_Intron|C18orf34_uc002kxo.2_Frame_Shift_Ins_p.M292fs|C18orf34_uc002kxp.2_Frame_Shift_Ins_p.M292fs	NM_001105528	NP_001098998	Q5BJE1	CR034_HUMAN	hypothetical protein LOC374864 isoform 1	292	Potential.									ovary(1)	1						ATTTACCTCCATTTTTTTTTTA	0.317		NA											9	34	---	---	---	---	NA	NA	NA	NA
FAT1	2195	broad.mit.edu	37	4	187541705	187541721	+	Frame_Shift_Del	DEL	AAAGGCTCATTGATTGG	AAAGGCTCATTGATTGG	-			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr4:187541705_187541721delAAAGGCTCATTGATTGG	uc003izf.2	-	10	6207_6223	c.6019_6035delCCAATCAATGAGCCTTT	c.(6019-6036)CCAATCAATGAGCCTTTGfs	p.P2007fs		NM_005245	NP_005236	Q14517	FAT1_HUMAN	FAT tumor suppressor 1 precursor	2007_2012	Extracellular (Potential).|Cadherin 18.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			ovary(10)|central_nervous_system(1)|pancreas(1)	12						GTGATAAAACAAAGGCTCATTGATTGGATTCCCAATA	0.465		NA								HNSCC(5;0.00058)			24	204	---	---	---	---	NA	NA	NA	NA
SKIV2L2	23517	broad.mit.edu	37	5	54637510	54637510	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr5:54637510delT	uc003jpy.3	+	7	958	c.692delT	c.(691-693)ATTfs	p.I231fs	SKIV2L2_uc011cqi.1_Frame_Shift_Del_p.I130fs	NM_015360	NP_056175	P42285	SK2L2_HUMAN	superkiller viralicidic activity 2-like 2	231	Helicase ATP-binding.				maturation of 5.8S rRNA	catalytic step 2 spliceosome|nucleolus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			ovary(1)|skin(1)	2		Lung NSC(810;0.000744)|Breast(144;0.181)|Prostate(74;0.194)				TTTCTTTAGATTTTGAGAAGT	0.294		NA											14	33	---	---	---	---	NA	NA	NA	NA
NOTCH1	4851	broad.mit.edu	37	9	139409118	139409118	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr9:139409118delC	uc004chz.2	-	13	2051	c.2051delG	c.(2050-2052)GGCfs	p.G684fs	NOTCH1_uc004cia.1_5'Flank	NM_017617	NP_060087	P46531	NOTC1_HUMAN	notch1 preproprotein	684	Extracellular (Potential).|EGF-like 18; calcium-binding (Potential).				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)		GCAGGGGTTGCCCGCACACTC	0.662		NA	T|Mis|O	TRB@	T-ALL					HNSCC(8;0.001)			8	24	---	---	---	---	NA	NA	NA	NA