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
MTOR	2475	broad.mit.edu	37	1	11297982	11297982	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr1:11297982T>C	uc001asd.2	-	13	2247	c.2126A>G	c.(2125-2127)GAG>GGG	p.E709G		NM_004958	NP_004949	P42345	MTOR_HUMAN	FK506 binding protein 12-rapamycin associated	709					cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade	endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity			central_nervous_system(7)|lung(6)|ovary(6)|skin(3)|kidney(3)|large_intestine(2)|breast(2)	29						GATGGCCAGCTCCCGGATCTC	0.582		NA											12	33					0	0	0	0
PQLC2	54896	broad.mit.edu	37	1	19653876	19653876	+	Silent	SNP	C	C	T			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr1:19653876C>T	uc001bby.2	+	8	1126	c.774C>T	c.(772-774)GGC>GGT	p.G258G	PQLC2_uc001bbz.2_Silent_p.G193G|PQLC2_uc001bca.2_Silent_p.G258G|PQLC2_uc001bcb.2_Silent_p.G147G|PQLC2_uc001bcc.2_Silent_p.G147G	NM_017765	NP_060235	Q6ZP29	PQLC2_HUMAN	PQ loop repeat containing 2 isoform 1	258	Helical; (Potential).					integral to membrane					0		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;1.89e-05)|Kidney(64;0.000177)|GBM - Glioblastoma multiforme(114;0.00124)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		GGCTTGTGGGCAGCCTGGGCG	0.652		NA											8	32					0	0	0	0
DCST2	127579	broad.mit.edu	37	1	155006045	155006045	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr1:155006045G>T	uc001fgm.2	-	1	213	c.133C>A	c.(133-135)CTA>ATA	p.L45I	DCST2_uc009wpb.2_RNA|DCST1_uc010per.1_5'Flank|DCST1_uc001fgn.1_5'Flank|DCST1_uc010pes.1_5'Flank	NM_144622	NP_653223	Q5T1A1	DCST2_HUMAN	DC-STAMP domain containing 2	45	Helical; (Potential).					integral to membrane				ovary(2)|central_nervous_system(1)	3	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			TCCACCAGTAGCTCCAGAAGC	0.632		NA											14	69					1.57e-10	1.76e-10	1	0
GON4L	54856	broad.mit.edu	37	1	155736338	155736338	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr1:155736338C>T	uc001flz.2	-	21	3023	c.2926G>A	c.(2926-2928)GGT>AGT	p.G976S	GON4L_uc009wrg.1_RNA|GON4L_uc001fly.1_Missense_Mutation_p.G976S|GON4L_uc009wrh.1_Missense_Mutation_p.G976S|GON4L_uc001fma.1_Missense_Mutation_p.G976S|GON4L_uc001fmb.3_Missense_Mutation_p.G172S|GON4L_uc001fmc.2_Missense_Mutation_p.G976S|GON4L_uc001fmd.3_Missense_Mutation_p.G976S|GON4L_uc009wri.2_Missense_Mutation_p.G562S	NM_001037533	NP_001032622	Q3T8J9	GON4L_HUMAN	gon-4-like isoform a	976					regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			ovary(3)	3	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					AGGACTACACCCTTAGGCAAT	0.498		NA											19	66					0	0	0	0
ARHGEF11	9826	broad.mit.edu	37	1	156926233	156926233	+	Silent	SNP	C	C	T			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr1:156926233C>T	uc001fqo.2	-	18	2570	c.1530G>A	c.(1528-1530)CCG>CCA	p.P510P	ARHGEF11_uc001fqn.2_Silent_p.P550P|ARHGEF11_uc001fqp.1_Silent_p.P39P	NM_014784	NP_055599	O15085	ARHGB_HUMAN	Rho guanine nucleotide exchange factor (GEF) 11	510					actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cell growth|regulation of Rho protein signal transduction|Rho protein signal transduction|striated muscle contraction	cytosol|Golgi apparatus|plasma membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			ovary(3)|skin(2)|pleura(1)|lung(1)|kidney(1)|pancreas(1)	9	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					TAGGGAAGAACGGTAGCCACT	0.338		NA											21	86					0	0	0	0
CD1E	913	broad.mit.edu	37	1	158326543	158326543	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr1:158326543C>T	uc001fse.2	+	6	1263	c.1024C>T	c.(1024-1026)CAC>TAC	p.H342Y	CD1E_uc001fsd.2_3'UTR|CD1E_uc001fsk.2_Missense_Mutation_p.H252Y|CD1E_uc001fsj.2_Intron|CD1E_uc001fsc.2_Missense_Mutation_p.H153Y|CD1E_uc010pig.1_Intron|CD1E_uc001fsa.2_Missense_Mutation_p.H98Y|CD1E_uc001fsf.2_Intron|CD1E_uc001fry.2_Intron|CD1E_uc001fsg.2_3'UTR|CD1E_uc001fsh.2_Intron|CD1E_uc001fsi.2_Intron|CD1E_uc009wsv.2_Missense_Mutation_p.H243Y|CD1E_uc001frz.2_Intron|CD1E_uc009wsw.2_Intron	NM_030893	NP_112155	P15812	CD1E_HUMAN	CD1E antigen isoform a precursor	342					antigen processing and presentation|immune response	early endosome|Golgi membrane|integral to plasma membrane|late endosome|lysosomal lumen				skin(3)	3	all_hematologic(112;0.0378)					TCTTTCTCCCCACACACCCAG	0.343		NA											9	50					0	0	0	0
IL24	11009	broad.mit.edu	37	1	207072852	207072852	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr1:207072852G>A	uc001hes.1	+	3	506	c.232G>A	c.(232-234)GAC>AAC	p.D78N	IL24_uc001het.1_Intron|IL24_uc001heu.1_Missense_Mutation_p.D79N|IL24_uc001hev.1_Intron|IL24_uc001hew.1_Missense_Mutation_p.D79N|IL24_uc001hex.1_Intron	NM_006850	NP_006841	Q13007	IL24_HUMAN	interleukin 24 isoform 1 precursor	78					apoptosis	extracellular space	cytokine activity				0	Breast(84;0.201)					GGCTGTGAAAGACACTATGGT	0.547		NA											15	56					0	0	0	0
ARID5B	84159	broad.mit.edu	37	10	63661489	63661489	+	Silent	SNP	G	G	A			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr10:63661489G>A	uc001jlt.1	+	1	47	c.21G>A	c.(19-21)CAG>CAA	p.Q7Q	ARID5B_uc010qil.1_Silent_p.Q7Q	NM_032199	NP_115575	Q14865	ARI5B_HUMAN	AT rich interactive domain 5B (MRF1-like)	7					liver development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent		protein binding|transcription regulatory region DNA binding			ovary(2)|upper_aerodigestive_tract(1)|kidney(1)	4	Prostate(12;0.016)|all_hematologic(501;0.215)					ACTCACTCCAGGTATTTCGCT	0.587		NA											7	32					0	0	0	0
DNA2	1763	broad.mit.edu	37	10	70204742	70204742	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr10:70204742T>C	uc001jof.2	-	8	1414	c.1414A>G	c.(1414-1416)ATA>GTA	p.I472V	DNA2_uc001jog.1_Missense_Mutation_p.I386V|DNA2_uc001joh.1_RNA	NM_001080449	NP_001073918	P51530	DNA2L_HUMAN	DNA replication helicase 2 homolog	386					base-excision repair|DNA replication, removal of RNA primer|mitochondrial DNA repair|mitochondrial DNA replication|positive regulation of DNA replication|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	mitochondrial nucleoid|nucleoplasm	5'-flap endonuclease activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|site-specific endodeoxyribonuclease activity, specific for altered base				0						TCCTCAATTATTTGTGGCAAA	0.343		NA											20	44					0	0	0	0
DLG5	9231	broad.mit.edu	37	10	79569435	79569435	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr10:79569435T>C	uc001jzk.2	-	24	4587	c.4517A>G	c.(4516-4518)AAA>AGA	p.K1506R	DLG5_uc001jzi.2_Missense_Mutation_p.K261R|DLG5_uc001jzj.2_Missense_Mutation_p.K921R|DLG5_uc009xru.1_RNA	NM_004747	NP_004738	Q8TDM6	DLG5_HUMAN	discs large homolog 5	1506	PDZ 4.				cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis	cell junction|cytoplasm	beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity			ovary(5)|breast(3)	8	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			CTGGGACTTTTTGATGAAGAC	0.542		NA											70	162					0	0	0	0
GRID1	2894	broad.mit.edu	37	10	87615919	87615919	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr10:87615919A>G	uc001kdl.1	-	7	1081	c.980T>C	c.(979-981)GTT>GCT	p.V327A	GRID1_uc009xsu.1_RNA	NM_017551	NP_060021	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	327	Extracellular (Potential).					cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			ovary(5)|upper_aerodigestive_tract(2)|large_intestine(2)|central_nervous_system(1)	10					L-Glutamic Acid(DB00142)	CAGCATCAGAACACTGTCATA	0.498		NA								Multiple Myeloma(13;0.14)			18	36					0	0	0	0
ATRNL1	26033	broad.mit.edu	37	10	117704198	117704198	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr10:117704198A>G	uc001lcg.2	+	29	4434	c.4048A>G	c.(4048-4050)ATT>GTT	p.I1350V	ATRNL1_uc010qsm.1_Missense_Mutation_p.I479V|ATRNL1_uc010qsn.1_RNA	NM_207303	NP_997186	Q5VV63	ATRN1_HUMAN	attractin-like 1 precursor	1350	Cytoplasmic (Potential).					integral to membrane	sugar binding			ovary(5)|lung(1)|central_nervous_system(1)	7		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		CCTAATAGATATTTCACAACA	0.423		NA											22	49					0	0	0	0
DCHS1	8642	broad.mit.edu	37	11	6662135	6662135	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr11:6662135G>T	uc001mem.1	-	2	1120	c.710C>A	c.(709-711)GCC>GAC	p.A237D		NM_003737	NP_003728	Q96JQ0	PCD16_HUMAN	dachsous 1 precursor	237	Cadherin 2.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|large_intestine(1)|pancreas(1)	5		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CAGGGCCTGGGCCCTCCGGGG	0.597		NA											25	115					1.43e-11	1.6e-11	1	0
ST5	6764	broad.mit.edu	37	11	8728695	8728695	+	Silent	SNP	C	C	T			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr11:8728695C>T	uc001mgt.2	-	13	2694	c.2508G>A	c.(2506-2508)TCG>TCA	p.S836S	ST5_uc009yfr.2_Silent_p.S416S|ST5_uc001mgu.2_Silent_p.S416S|ST5_uc001mgv.2_Silent_p.S836S|ST5_uc010rbq.1_RNA|ST5_uc010rbp.1_Silent_p.S349S|ST5_uc009yfs.2_RNA	NM_213618	NP_998783	P78524	ST5_HUMAN	suppression of tumorigenicity 5 isoform 1	836	DENN.				positive regulation of ERK1 and ERK2 cascade		protein binding			upper_aerodigestive_tract(1)	1				Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352)		CTGGGAAGGGCGACTCCATGA	0.592		NA											11	33					0	0	0	0
CSRP3	8048	broad.mit.edu	37	11	19209725	19209725	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr11:19209725A>T	uc001mpk.2	-	3	356	c.239T>A	c.(238-240)CTC>CAC	p.L80H		NM_003476	NP_003467	P50461	CSRP3_HUMAN	cysteine and glycine-rich protein 3	80					cell differentiation|skeletal muscle tissue development	cytoskeleton|nucleus	protein binding|zinc ion binding				0						GTCTGTGCTGAGACAGCCAGC	0.567		NA											18	97					0	0	0	0
HIPK3	10114	broad.mit.edu	37	11	33308310	33308310	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr11:33308310A>G	uc001mul.1	+	2	620	c.350A>G	c.(349-351)CAT>CGT	p.H117R	HIPK3_uc001mum.1_Missense_Mutation_p.H117R|HIPK3_uc009yjv.1_Missense_Mutation_p.H117R	NM_005734	NP_005725	Q9H422	HIPK3_HUMAN	homeodomain interacting protein kinase 3 isoform	117					anti-apoptosis|apoptosis|negative regulation of JUN kinase activity|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm	ATP binding|protein serine/threonine kinase activity			large_intestine(1)|skin(1)|stomach(1)|ovary(1)|pancreas(1)	5						AACAGATTGCATTTCCTAGAA	0.498		NA											11	39					0	0	0	0
ALKBH3	221120	broad.mit.edu	37	11	43923092	43923092	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr11:43923092G>C	uc001mxs.2	+	8	929	c.486G>C	c.(484-486)AAG>AAC	p.K162N	ALKBH3_uc009ykp.2_RNA|ALKBH3_uc001mxt.2_RNA|ALKBH3_uc009ykq.2_Missense_Mutation_p.K15N	NM_139178	NP_631917	Q96Q83	ALKB3_HUMAN	AlkB homolog 3	162					DNA dealkylation involved in DNA repair|oxidative single-stranded DNA demethylation	mitochondrion|nucleoplasm	damaged DNA binding|DNA-N1-methyladenine dioxygenase activity|ferrous iron binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen				0					Vitamin C(DB00126)	GCACACTAAAGAACCGCATTG	0.488		NA						Direct_reversal_of_damage					11	32					0	0	0	0
NUMA1	4926	broad.mit.edu	37	11	71717271	71717271	+	Silent	SNP	C	C	T			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr11:71717271C>T	uc001orl.1	-	22	5674	c.5502G>A	c.(5500-5502)TCG>TCA	p.S1834S	NUMA1_uc001orj.2_Silent_p.S16S|NUMA1_uc009ysw.1_Silent_p.S1401S|NUMA1_uc001ork.1_Silent_p.S698S|NUMA1_uc001orm.1_Silent_p.S1820S	NM_006185	NP_006176	Q14980	NUMA1_HUMAN	nuclear mitotic apparatus protein 1	1834					G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity			ovary(3)|lung(2)|skin(2)|central_nervous_system(1)	8						TGCTGTAGAACGATGAGTTGG	0.552		NA	T	RARA	APL								6	56					0	0	0	0
PRDM10	56980	broad.mit.edu	37	11	129827743	129827743	+	Silent	SNP	G	G	A			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr11:129827743G>A	uc001qfm.2	-	3	364	c.132C>T	c.(130-132)CGC>CGT	p.R44R	PRDM10_uc001qfn.2_Silent_p.R44R|PRDM10_uc009zct.1_Silent_p.R44R	NM_020228	NP_064613	Q9NQV6	PRD10_HUMAN	PR domain containing 10 isoform 1	44					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			pancreas(1)	1	all_hematologic(175;0.0537)	Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185)		GCTGTGGGGGGCGAACCTGGT	0.537		NA											51	182					0	0	0	0
LRRK2	120892	broad.mit.edu	37	12	40715964	40715964	+	Silent	SNP	A	A	T			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr12:40715964A>T	uc001rmg.3	+	36	5419	c.5298A>T	c.(5296-5298)ACA>ACT	p.T1766T	LRRK2_uc009zjw.2_Silent_p.T604T|LRRK2_uc001rmi.2_Silent_p.T599T	NM_198578	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	1766					activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			ovary(12)|stomach(5)|upper_aerodigestive_tract(2)|lung(2)|large_intestine(1)|urinary_tract(1)|pancreas(1)	24	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				TAAAAATTACAGTTCCTTCTT	0.303		NA											9	35					0	0	0	0
ITGA7	3679	broad.mit.edu	37	12	56091493	56091493	+	Silent	SNP	G	G	A			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr12:56091493G>A	uc001shh.2	-	9	1627	c.1407C>T	c.(1405-1407)ACC>ACT	p.T469T	ITGA7_uc001shg.2_Silent_p.T465T|ITGA7_uc010sps.1_Silent_p.T372T|ITGA7_uc009znw.2_5'Flank|ITGA7_uc009znx.2_Silent_p.T352T	NM_001144996	NP_001138468	Q13683	ITA7_HUMAN	integrin alpha 7 isoform 1 precursor	509	FG-GAP 7.|Extracellular (Potential).				cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape	integrin complex	receptor activity			ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	5						AGAGCACTGCGGTGTCAGCCA	0.597		NA											19	53					0	0	0	0
CCDC60	160777	broad.mit.edu	37	12	119917004	119917004	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr12:119917004C>G	uc001txe.2	+	4	912	c.447C>G	c.(445-447)CAC>CAG	p.H149Q	uc001txf.2_Intron	NM_178499	NP_848594	Q8IWA6	CCD60_HUMAN	coiled-coil domain containing 60	149										ovary(2)|upper_aerodigestive_tract(1)	3	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.207)		CCGAGGCTCACGTGTAAGTAG	0.478		NA											5	28					0	0	0	0
WDR66	144406	broad.mit.edu	37	12	122369654	122369654	+	Silent	SNP	C	C	T			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr12:122369654C>T	uc009zxk.2	+	4	892	c.750C>T	c.(748-750)ACC>ACT	p.T250T		NM_144668	NP_653269	Q8TBY9	WDR66_HUMAN	WD repeat domain 66	250							calcium ion binding			ovary(1)|skin(1)	2	all_neural(191;0.0496)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000155)|Epithelial(86;0.000634)|BRCA - Breast invasive adenocarcinoma(302;0.248)		TCTTCCAGACCATGACCTGGT	0.502		NA											3	25					0	0	0	0
DNAH10	196385	broad.mit.edu	37	12	124371815	124371815	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr12:124371815G>A	uc001uft.3	+	51	8621	c.8596G>A	c.(8596-8598)GCT>ACT	p.A2866T		NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	2866	AAA 4 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(3)|skin(2)|central_nervous_system(1)	6	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		TGCCCATGTGGCTGAGGAGGG	0.542		NA											6	30					0	0	0	0
CKAP2	26586	broad.mit.edu	37	13	53048164	53048164	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr13:53048164A>G	uc001vgv.2	+	8	1947	c.1750A>G	c.(1750-1752)ACG>GCG	p.T584A	CKAP2_uc001vgu.2_Missense_Mutation_p.T583A|CKAP2_uc010tha.1_Missense_Mutation_p.T535A	NM_001098525	NP_001091995	Q8WWK9	CKAP2_HUMAN	cytoskeleton associated protein 2 isoform 2	584					apoptosis|cell cycle	centrosome|microtubule|spindle pole				ovary(1)|skin(1)	2		Breast(56;0.000207)|Lung NSC(96;0.00212)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.6e-08)		CAATACAGAAACGAGGACAAG	0.328		NA											12	43					0	0	0	0
DACH1	1602	broad.mit.edu	37	13	72440352	72440352	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr13:72440352G>A	uc010thn.1	-	2	973	c.550C>T	c.(550-552)CAG>TAG	p.Q184*	DACH1_uc010tho.1_Nonsense_Mutation_p.Q184*|DACH1_uc010thp.1_Nonsense_Mutation_p.Q184*	NM_080759	NP_542937	Q9UI36	DACH1_HUMAN	dachshund homolog 1 isoform a	184					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|nucleotide binding|protein binding			breast(1)	1		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)		GBM - Glioblastoma multiforme(99;0.00032)		TCATTATTCTGAGGGGTGTTT	0.488		NA											7	21					0	0	0	0
MYCBP2	23077	broad.mit.edu	37	13	77625998	77625998	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr13:77625998T>C	uc001vkf.2	-	82	13680	c.13589A>G	c.(13588-13590)TAT>TGT	p.Y4530C	MYCBP2_uc010aev.2_Missense_Mutation_p.Y3934C|MYCBP2_uc001vke.2_Missense_Mutation_p.Y1147C	NM_015057	NP_055872	O75592	MYCB2_HUMAN	MYC binding protein 2	4530					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			ovary(4)|breast(4)|skin(3)|lung(2)|pancreas(1)	14		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		TCTGGGATCATAATCATCTCC	0.428		NA											7	22					0	0	0	0
MYCBP2	23077	broad.mit.edu	37	13	77672743	77672743	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr13:77672743T>C	uc001vkf.2	-	57	8523	c.8432A>G	c.(8431-8433)AAT>AGT	p.N2811S	MYCBP2_uc010aev.2_Missense_Mutation_p.N2215S|MYCBP2_uc001vkg.1_Missense_Mutation_p.N334S|MYCBP2_uc010aew.2_Missense_Mutation_p.N197S	NM_015057	NP_055872	O75592	MYCB2_HUMAN	MYC binding protein 2	2811					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			ovary(4)|breast(4)|skin(3)|lung(2)|pancreas(1)	14		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		TTGAGGTAGATTTTTATCATG	0.483		NA											22	56					0	0	0	0
SPRY2	10253	broad.mit.edu	37	13	80911560	80911560	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr13:80911560A>C	uc001vli.2	-	2	1259	c.281T>G	c.(280-282)CTC>CGC	p.L94R	SPRY2_uc001vlj.2_Missense_Mutation_p.L94R	NM_005842	NP_005833	O43597	SPY2_HUMAN	sprouty 2	94					epidermal growth factor receptor signaling pathway|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|positive regulation of ERK1 and ERK2 cascade|positive regulation of gene expression|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein kinase B signaling cascade	cytosol|microtubule|ruffle membrane	protein serine/threonine kinase activator activity			ovary(1)|lung(1)	2	Medulloblastoma(90;0.18)	Acute lymphoblastic leukemia(28;0.218)|Breast(118;0.244)		GBM - Glioblastoma multiforme(99;0.0318)		CGAGTGCTGGAGCCTAGGAGG	0.622		NA											17	62					0	0	0	0
OR4N5	390437	broad.mit.edu	37	14	20612330	20612330	+	Silent	SNP	T	T	C			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr14:20612330T>C	uc010tla.1	+	1	436	c.436T>C	c.(436-438)TTG>CTG	p.L146L		NM_001004724	NP_001004724	Q8IXE1	OR4N5_HUMAN	olfactory receptor, family 4, subfamily N,	146	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.84e-06)	GBM - Glioblastoma multiforme(265;0.0143)		TGCATTATCGTTGGTTCTGTG	0.498		NA											12	117					0	0	0	0
FNTB	2342	broad.mit.edu	37	14	65390788	65390788	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr14:65390788T>C	uc010tsl.1	+	2	193	c.119T>C	c.(118-120)CTG>CCG	p.L40P	CHURC1_uc010tsj.1_Missense_Mutation_p.L40P|CHURC1_uc010tsk.1_RNA|FNTB_uc010tsm.1_5'UTR|CHURC1_uc001xhv.1_Missense_Mutation_p.L40P|CHURC1_uc001xhw.1_Missense_Mutation_p.L40P	NM_002028	NP_002019	P49356	FNTB_HUMAN	farnesyltransferase, CAAX box, beta	Error:Variant_position_missing_in_P49356_after_alignment					protein farnesylation	microtubule associated complex	protein binding|protein farnesyltransferase activity			ovary(1)	1				all cancers(60;0.00115)|OV - Ovarian serous cystadenocarcinoma(108;0.00412)|BRCA - Breast invasive adenocarcinoma(234;0.011)		GATTTTATGCTGATCACAAAC	0.383		NA											14	63					0	0	0	0
C16orf11	146325	broad.mit.edu	37	16	614994	614994	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr16:614994C>G	uc002chk.2	+	3	1682	c.1403C>G	c.(1402-1404)TCT>TGT	p.S468C	NHLRC4_uc002chl.2_5'Flank|PIGQ_uc010bqw.2_5'Flank	NM_145270	NP_660313	P0CG20	CP011_HUMAN	hypothetical protein LOC146325	468										central_nervous_system(1)	1						CTCGACCTCTCTGTGAAACGT	0.726		NA											3	13					0	0	0	0
USP31	57478	broad.mit.edu	37	16	23117549	23117549	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr16:23117549G>A	uc002dll.2	-	4	938	c.938C>T	c.(937-939)CCT>CTT	p.P313L		NM_020718	NP_065769	Q70CQ4	UBP31_HUMAN	ubiquitin specific peptidase 31	313					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			ovary(3)|lung(3)|breast(2)|pancreas(1)|skin(1)	10				GBM - Glioblastoma multiforme(48;0.0187)		GTGGGGCAGAGGAATTGGCAA	0.388		NA											9	46					0	0	0	0
TAOK2	9344	broad.mit.edu	37	16	30002109	30002109	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr16:30002109G>A	uc002dvc.1	+	18	3233	c.2450G>A	c.(2449-2451)CGG>CAG	p.R817Q	uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron	NM_004783	NP_004774	Q9UL54	TAOK2_HUMAN	TAO kinase 2 isoform 1	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity			ovary(1)	1						CCCCAGCTGCGGCTTGATGAG	0.592		NA											18	48					0	0	0	0
CHD9	80205	broad.mit.edu	37	16	53289642	53289642	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr16:53289642C>T	uc002ehb.2	+	18	4324	c.4160C>T	c.(4159-4161)ACA>ATA	p.T1387I	CHD9_uc002egy.2_Missense_Mutation_p.T1387I|CHD9_uc002ehc.2_Missense_Mutation_p.T1387I|CHD9_uc002ehf.2_Missense_Mutation_p.T501I|CHD9_uc002ehd.2_Missense_Mutation_p.T913I	NM_025134	NP_079410	Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	1387					cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding			lung(2)|central_nervous_system(1)|breast(1)|skin(1)|ovary(1)|kidney(1)	7		all_cancers(37;0.0212)				CTACGTCGTACAAAAACTATT	0.393		NA											21	197					0	0	0	0
HERPUD1	9709	broad.mit.edu	37	16	56974084	56974084	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr16:56974084C>T	uc002eke.1	+	6	1241	c.832C>T	c.(832-834)CTC>TTC	p.L278F	HERPUD1_uc002ekf.1_Missense_Mutation_p.L277F|HERPUD1_uc002ekg.1_Missense_Mutation_p.L253F|HERPUD1_uc010cco.1_Intron|HERPUD1_uc010ccp.1_Intron|HERPUD1_uc002ekh.1_Missense_Mutation_p.L96F	NM_014685	NP_055500	Q15011	HERP1_HUMAN	homocysteine-inducible, endoplasmic reticulum	278	Helical; (Potential).					endoplasmic reticulum membrane|integral to membrane	protein binding				0						TTCTGTTTTTCTCAGTATCCT	0.433		NA	T	ERG	prostate								81	70					0	0	0	0
FAM192A	80011	broad.mit.edu	37	16	57188404	57188404	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr16:57188404T>G	uc010vhk.1	-	7	822	c.563A>C	c.(562-564)AAG>ACG	p.K188T	FAM192A_uc002ekz.3_Missense_Mutation_p.K187T|FAM192A_uc002ekv.3_Missense_Mutation_p.K110T|FAM192A_uc002ekw.3_Missense_Mutation_p.K187T|FAM192A_uc002ekx.3_Missense_Mutation_p.K187T|FAM192A_uc002eky.3_Missense_Mutation_p.K187T	NM_024946	NP_079222	Q9GZU8	F192A_HUMAN	NEFA-interacting nuclear protein NIP30	188						nucleus					0						TCCGAGAGACTTGCAGGATGA	0.488		NA											8	35					0	0	0	0
CDH3	1001	broad.mit.edu	37	16	68712178	68712178	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr16:68712178C>G	uc002ewf.2	+	4	1520	c.388C>G	c.(388-390)CAG>GAG	p.Q130E	CDH3_uc010vli.1_Missense_Mutation_p.Q75E	NM_001793	NP_001784	P22223	CADH3_HUMAN	cadherin 3, type 1 preproprotein	130	Cadherin 1.|Extracellular (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion|response to stimulus|visual perception	integral to membrane	calcium ion binding	p.?(1)		ovary(3)|breast(1)|skin(1)	5		Ovarian(137;0.0564)		OV - Ovarian serous cystadenocarcinoma(108;0.000782)|Epithelial(162;0.0054)|all cancers(182;0.0384)		GAGACTGAATCAGGTACGACT	0.527		NA											9	34					0	0	0	0
RAP1GAP2	23108	broad.mit.edu	37	17	2867251	2867251	+	Silent	SNP	G	G	C			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr17:2867251G>C	uc010ckd.2	+	7	471	c.381G>C	c.(379-381)GGG>GGC	p.G127G	RAP1GAP2_uc010cke.2_Silent_p.G112G	NM_015085	NP_055900	Q684P5	RPGP2_HUMAN	RAP1 GTPase activating protein 2 isoform 1	127					regulation of small GTPase mediated signal transduction	centrosome|cytosol|perinuclear region of cytoplasm	GTPase activator activity			ovary(1)	1						CATCGCTGGGGAGCAGCATCT	0.602		NA											11	35					0	0	0	0
TP53	7157	broad.mit.edu	37	17	7578479	7578479	+	Missense_Mutation	SNP	G	G	T	rs28934874		TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr17:7578479G>T	uc002gim.2	-	5	645	c.451C>A	c.(451-453)CCC>ACC	p.P151T	TP53_uc002gig.1_Missense_Mutation_p.P151T|TP53_uc002gih.2_Missense_Mutation_p.P151T|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.P19T|TP53_uc010cng.1_Missense_Mutation_p.P19T|TP53_uc002gii.1_Missense_Mutation_p.P19T|TP53_uc010cnh.1_Missense_Mutation_p.P151T|TP53_uc010cni.1_Missense_Mutation_p.P151T|TP53_uc002gij.2_Missense_Mutation_p.P151T|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.P58T|TP53_uc002gio.2_Missense_Mutation_p.P19T|TP53_uc010vug.1_Missense_Mutation_p.P112T	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	151	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		P -> R (in sporadic cancers; somatic mutation).|P -> A (in sporadic cancers; somatic mutation).|P -> L (in sporadic cancers; somatic mutation).|P -> H (in sporadic cancers; somatic mutation).|P -> T (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.P151S(61)|p.P151H(25)|p.P151T(13)|p.P151P(12)|p.P151A(10)|p.P152fs*18(9)|p.0?(7)|p.P151fs*30(7)|p.P151L(6)|p.P151R(6)|p.T150fs*16(3)|p.P151_V173del23(1)|p.P152_P153del(1)|p.P152fs*28(1)|p.P151del(1)|p.D148_T155delDSTPPPGT(1)|p.T150_P153delTPPP(1)|p.P58A(1)|p.D148fs*23(1)|p.S149fs*72(1)|p.S149fs*17(1)|p.Q144_G154del11(1)|p.P19A(1)|p.P152fs*14(1)|p.T150_P151delTP(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)		CCGGGCGGGGGTGTGGAATCA	0.612		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)			25	33					3.65e-15	4.19e-15	1	0
SLC47A2	146802	broad.mit.edu	37	17	19605988	19605988	+	Splice_Site	SNP	C	C	G			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr17:19605988C>G	uc002gwe.3	-	13	1378	c.1203_splice	c.e13-1	p.E401_splice	SLC47A2_uc002gwg.3_Splice_Site_p.E365_splice|SLC47A2_uc002gwf.3_Splice_Site_p.E379_splice|SLC47A2_uc002gwh.3_Splice_Site|SLC47A2_uc002gwi.2_Splice_Site|SLC47A2_uc010cqs.1_Splice_Site	NM_152908	NP_690872	Q86VL8	S47A2_HUMAN	solute carrier family 47, member 2 isoform 1							integral to membrane|plasma membrane	drug:hydrogen antiporter activity				0	all_cancers(12;2.3e-05)|all_epithelial(12;0.0024)|Breast(13;0.245)					AATGACATCTCTGCAGAAGAA	0.453		NA											6	13					0	0	0	0
ADCYAP1	116	broad.mit.edu	37	18	909585	909585	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr18:909585G>C	uc010dkg.2	+	5	599	c.480G>C	c.(478-480)AAG>AAC	p.K160N	ADCYAP1_uc010dkh.2_Missense_Mutation_p.K160N	NM_001099733	NP_001093203	P18509	PACA_HUMAN	adenylate cyclase activating polypeptide	160					activation of adenylate cyclase activity|cell-cell signaling|female pregnancy|nerve growth factor receptor signaling pathway|regulation of G-protein coupled receptor protein signaling pathway	extracellular region|soluble fraction	neuropeptide hormone activity|peptide hormone receptor binding				0						TCCTAGGGAAGAGGTATAAAC	0.507		NA											13	194					0	0	0	0
ANKRD12	23253	broad.mit.edu	37	18	9257171	9257171	+	Silent	SNP	A	A	G			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr18:9257171A>G	uc002knv.2	+	9	4163	c.3906A>G	c.(3904-3906)AGA>AGG	p.R1302R	ANKRD12_uc002knw.2_Silent_p.R1279R|ANKRD12_uc002knx.2_Silent_p.R1279R|ANKRD12_uc010dkx.1_Silent_p.R1009R	NM_015208	NP_056023	Q6UB98	ANR12_HUMAN	ankyrin repeat domain 12 isoform 1	1302						nucleus				ovary(2)|central_nervous_system(1)	3						GCGAGGGGAGACCTACCATAG	0.398		NA											50	70					0	0	0	0
MIB1	57534	broad.mit.edu	37	18	19424087	19424087	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr18:19424087A>T	uc002ktq.2	+	15	2084	c.2084A>T	c.(2083-2085)CAG>CTG	p.Q695L	MIB1_uc002ktp.2_Missense_Mutation_p.Q334L	NM_020774	NP_065825	Q86YT6	MIB1_HUMAN	mindbomb homolog 1	695					Notch signaling pathway	centrosome|nuclear membrane|plasma membrane	ubiquitin-protein ligase activity|zinc ion binding			ovary(4)	4			STAD - Stomach adenocarcinoma(5;0.212)			CTTGATATTCAGGATAAGGAT	0.433		NA											7	63					0	0	0	0
KIAA0427	9811	broad.mit.edu	37	18	46238063	46238063	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr18:46238063G>A	uc002ldc.2	+	7	866	c.581G>A	c.(580-582)CGA>CAA	p.R194Q	KIAA0427_uc002ldd.2_Missense_Mutation_p.R194Q	NM_014772	NP_055587	O43310	CTIF_HUMAN	hypothetical protein LOC9811 isoform 1	194	Interaction with NCBP1/CBP80.				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational initiation	perinuclear region of cytoplasm	protein binding				0						AGAAATGATCGAAGGTAGGAG	0.547		NA									OREG0024973	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	32	71					0	0	0	0
WDR18	57418	broad.mit.edu	37	19	985937	985937	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr19:985937G>A	uc002lqm.1	+	2	309	c.283G>A	c.(283-285)GTC>ATC	p.V95I	WDR18_uc002lqn.1_RNA|WDR18_uc010drx.1_Intron|WDR18_uc010dry.1_Missense_Mutation_p.V95I	NM_024100	NP_077005	Q9BV38	WDR18_HUMAN	WD repeat domain 18	95	WD 2.									skin(1)	1		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGGTCTCTACGTCCTGGCAGG	0.572		NA											4	37					0	0	0	0
C19orf35	374872	broad.mit.edu	37	19	2276476	2276476	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr19:2276476C>T	uc002lvn.2	-	4	725	c.625G>A	c.(625-627)GGG>AGG	p.G209R	SPPL2B_uc010dsw.1_Intron	NM_198532	NP_940934	Q6ZS72	CS035_HUMAN	hypothetical protein LOC374872	209										pancreas(1)	1				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ACGTCCGCCCCGGGCTTGGGC	0.701		NA											5	11					0	0	0	0
PEX11G	92960	broad.mit.edu	37	19	7550795	7550795	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr19:7550795T>A	uc002mgk.1	-	2	187	c.178A>T	c.(178-180)AGG>TGG	p.R60W	PEX11G_uc002mgl.1_5'UTR	NM_080662	NP_542393	Q96HA9	PX11C_HUMAN	peroxisomal biogenesis factor 11 gamma	60	Cytoplasmic (Potential).					integral to membrane|peroxisomal membrane					0						AAGATGGTCCTGCAGTGGCTG	0.567		NA											17	42					0	0	0	0
EVI5L	115704	broad.mit.edu	37	19	7916349	7916349	+	Silent	SNP	C	C	T			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr19:7916349C>T	uc002min.2	+	7	937	c.783C>T	c.(781-783)TTC>TTT	p.F261F	EVI5L_uc010xjz.1_Silent_p.F261F|EVI5L_uc002mio.1_5'UTR	NM_145245	NP_660288	Q96CN4	EVI5L_HUMAN	ecotropic viral integration site 5-like isoform	261	Rab-GAP TBC.					intracellular	protein binding|Rab GTPase activator activity			ovary(1)	1						ACACCCACTTCCGTTCCCAAA	0.632		NA											11	68					0	0	0	0
ZNF737	100129842	broad.mit.edu	37	19	20728770	20728770	+	Missense_Mutation	SNP	T	T	G	rs61742876	by1000genomes	TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr19:20728770T>G	uc002npa.2	-	4	419	c.239A>C	c.(238-240)CAT>CCT	p.H80P		NM_001159293	NP_001152765	C9JHM3	C9JHM3_HUMAN	zinc finger protein 737	80					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			ovary(1)	1						TCGGGCAAAATGAGAACACGT	0.323		NA											4	19					0	0	0	0
RBM42	79171	broad.mit.edu	37	19	36124784	36124784	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr19:36124784G>A	uc002oan.2	+	7	956	c.880G>A	c.(880-882)GAG>AAG	p.E294K	RBM42_uc010eef.2_Missense_Mutation_p.E240K|RBM42_uc002oao.2_Missense_Mutation_p.E272K|RBM42_uc002oap.2_Missense_Mutation_p.E264K|RBM42_uc002oaq.2_Missense_Mutation_p.E265K|RBM42_uc010eeg.2_Missense_Mutation_p.E265K	NM_024321	NP_077297	Q9BTD8	RBM42_HUMAN	RNA binding motif protein 42	294	Necessary for interaction with HNRNPK (By similarity).|Pro-rich.					cytoplasm|nucleus	nucleotide binding|RNA binding				0	all_lung(56;1.58e-07)|Lung NSC(56;2.43e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			GCCATTGCCCGAGCCTGAGCC	0.746		NA											4	8					0	0	0	0
ZNF527	84503	broad.mit.edu	37	19	37879538	37879538	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr19:37879538A>T	uc010efk.1	+	5	698	c.587A>T	c.(586-588)TAT>TTT	p.Y196F	ZNF527_uc002ogf.3_Missense_Mutation_p.Y164F|ZNF527_uc010xtq.1_RNA	NM_032453	NP_115829	Q8NB42	ZN527_HUMAN	zinc finger protein 527	196					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TTTGATATTTATGATAAACTC	0.323		NA											7	68					0	0	0	0
ZNF320	162967	broad.mit.edu	37	19	53384668	53384668	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr19:53384668T>A	uc002qag.2	-	4	902	c.711A>T	c.(709-711)AGA>AGT	p.R237S	ZNF320_uc010eqh.1_5'Flank|ZNF320_uc010eqi.1_Intron|ZNF320_uc002qah.2_Missense_Mutation_p.R183S|ZNF320_uc002qai.2_Missense_Mutation_p.R237S	NM_207333	NP_997216	A2RRD8	ZN320_HUMAN	zinc finger protein 320	237	C2H2-type 3.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0				GBM - Glioblastoma multiforme(134;0.0534)		CAGTATGACTTCTATGATGAC	0.398		NA											10	66					0	0	0	0
ZNF446	55663	broad.mit.edu	37	19	58991828	58991828	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr19:58991828C>T	uc002qsz.2	+	7	1205	c.1088C>T	c.(1087-1089)CCG>CTG	p.P363L	ZNF446_uc002qta.2_Missense_Mutation_p.R335W|ZNF446_uc010eur.2_3'UTR|SLC27A5_uc002qtb.2_RNA	NM_017908	NP_060378	Q9NWS9	ZN446_HUMAN	zinc finger protein 446	363					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)		GTGCAGTCCCCGGGGCTAGCC	0.657		NA											7	30					0	0	0	0
KCNF1	3754	broad.mit.edu	37	2	11053801	11053801	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr2:11053801C>T	uc002rax.2	+	1	1739	c.1249C>T	c.(1249-1251)CGC>TGC	p.R417C		NM_002236	NP_002227	Q9H3M0	KCNF1_HUMAN	potassium voltage-gated channel, subfamily F,	417	Cytoplasmic (Potential).					voltage-gated potassium channel complex	voltage-gated potassium channel activity			ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.128)		CAACAAGCAGCGCGTCCTGGA	0.617		NA											6	20					0	0	0	0
FAM161A	84140	broad.mit.edu	37	2	62067206	62067206	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr2:62067206C>A	uc010ypo.1	-	3	1035	c.933G>T	c.(931-933)AAG>AAT	p.K311N	FAM161A_uc002sbm.3_Missense_Mutation_p.K311N|FAM161A_uc002sbn.3_Missense_Mutation_p.K121N|FAM161A_uc010fcm.1_RNA|FAM161A_uc010fcn.1_Missense_Mutation_p.K202N	NM_032180	NP_115556	Q3B820	F161A_HUMAN	hypothetical protein LOC84140	311	Potential.				response to stimulus|visual perception	centrosome				large_intestine(2)|ovary(1)	3						TGCTTTTCTCCTTCAGAGACC	0.443		NA											17	132					4.97e-08	5.45e-08	1	0
DLX1	1745	broad.mit.edu	37	2	172951395	172951395	+	Silent	SNP	G	G	A			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr2:172951395G>A	uc002uhl.2	+	2	525	c.327G>A	c.(325-327)GAG>GAA	p.E109E	DLX1_uc010fqj.1_Silent_p.E109E|DLX1_uc002uhm.2_Intron	NM_178120	NP_835221	P56177	DLX1_HUMAN	distal-less homeobox 1 isoform 1	109						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0			OV - Ovarian serous cystadenocarcinoma(117;0.216)			CGGACTCGGAGAAGAGCACGG	0.567		NA											21	90					0	0	0	0
CASP8	841	broad.mit.edu	37	2	202131498	202131498	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr2:202131498C>T	uc002uxr.1	+	3	498	c.289C>T	c.(289-291)CAA>TAA	p.Q97*	CASP8_uc010ftc.1_Nonsense_Mutation_p.Q97*|CASP8_uc002uxo.1_Nonsense_Mutation_p.Q97*|CASP8_uc002uxp.1_Nonsense_Mutation_p.Q97*|CASP8_uc002uxq.1_Nonsense_Mutation_p.Q97*|CASP8_uc002uxs.1_Nonsense_Mutation_p.Q97*|CASP8_uc002uxt.1_Nonsense_Mutation_p.Q156*|CASP8_uc002uxu.1_RNA|CASP8_uc010ftd.1_Intron|CASP8_uc002uxv.1_Nonsense_Mutation_p.Q97*|CASP8_uc002uxw.1_Nonsense_Mutation_p.Q97*|CASP8_uc002uxy.1_Nonsense_Mutation_p.Q97*|CASP8_uc002uxx.1_Nonsense_Mutation_p.Q97*|CASP8_uc010ftf.2_Nonsense_Mutation_p.Q97*	NM_033355	NP_203519	Q14790	CASP8_HUMAN	caspase 8 isoform B precursor	97					activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor	centrosome|cytosol|mitochondrial outer membrane	cysteine-type endopeptidase activity|protein binding|protein binding			upper_aerodigestive_tract(2)|ovary(1)|breast(1)|skin(1)	5						AGGCAGGGCTCAAATTTCTGC	0.488		NA								HNSCC(4;0.00038)			5	18					0	0	0	0
OR6B2	389090	broad.mit.edu	37	2	240969562	240969562	+	Silent	SNP	G	G	T			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr2:240969562G>T	uc002vyr.2	-	2	331	c.285C>A	c.(283-285)GTC>GTA	p.V95V	OR6B2_uc010zoc.1_Silent_p.V95V	NM_001005853	NP_001005853	Q6IFH4	OR6B2_HUMAN	olfactory receptor, family 6, subfamily B,	95	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0		all_epithelial(40;1.64e-11)|Breast(86;0.000327)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238)		Epithelial(121;3.4e-29)|all cancers(36;2.08e-27)|OV - Ovarian serous cystadenocarcinoma(60;4.63e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.56e-05)|Lung(119;0.00344)|LUSC - Lung squamous cell carcinoma(224;0.0148)		TCATGCACCCGACGAAAGAGA	0.577		NA											8	46					1.77e-08	1.96e-08	1	0
ZSWIM3	140831	broad.mit.edu	37	20	44507028	44507028	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr20:44507028G>A	uc002xqd.2	+	2	2034	c.1831G>A	c.(1831-1833)GAG>AAG	p.E611K	ZSWIM3_uc010zxg.1_Missense_Mutation_p.E605K|ZSWIM1_uc010zxh.1_5'Flank|ZSWIM1_uc010ghi.2_5'Flank	NM_080752	NP_542790	Q96MP5	ZSWM3_HUMAN	zinc finger, SWIM domain containing 3	611							zinc ion binding			ovary(2)	2		Myeloproliferative disorder(115;0.0122)				AGGCCAGCCTGAGAAGCAAGG	0.587		NA											18	80					0	0	0	0
KRTAP10-6	386674	broad.mit.edu	37	21	46011580	46011580	+	Silent	SNP	G	G	T			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr21:46011580G>T	uc002zfm.2	-	1	807	c.786C>A	c.(784-786)ACC>ACA	p.T262T	C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron	NM_198688	NP_941961	P60371	KR106_HUMAN	keratin associated protein 10-6	262	23.|29 X 5 AA repeats of C-C-X(3).					keratin filament					0						AGGGGGAGGAGGTGCAGCAAG	0.652		NA											28	84					2.68e-12	3.03e-12	1	0
TPST2	8459	broad.mit.edu	37	22	26932363	26932363	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr22:26932363C>T	uc003acv.2	-	3	1100	c.932G>A	c.(931-933)CGG>CAG	p.R311Q	TPST2_uc003acw.2_Missense_Mutation_p.R311Q|TPST2_uc003acx.2_Missense_Mutation_p.R311Q	NM_003595	NP_003586	O60704	TPST2_HUMAN	tyrosylprotein sulfotransferase 2	311	Lumenal (Potential).				peptidyl-tyrosine sulfation	endoplasmic reticulum|Golgi membrane|integral to membrane|membrane fraction	protein-tyrosine sulfotransferase activity			central_nervous_system(1)	1						GGCCATGTCCCGCACCACATC	0.602		NA											5	26					0	0	0	0
SMTN	6525	broad.mit.edu	37	22	31492832	31492832	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr22:31492832G>A	uc003ajl.1	+	14	2193	c.1975G>A	c.(1975-1977)GAT>AAT	p.D659N	SMTN_uc003ajk.1_Missense_Mutation_p.D659N|SMTN_uc003ajm.1_Missense_Mutation_p.D659N|SMTN_uc011ale.1_Missense_Mutation_p.D744N|SMTN_uc011alf.1_Missense_Mutation_p.D715N|SMTN_uc003ajn.1_Missense_Mutation_p.D682N|SMTN_uc011alg.1_Missense_Mutation_p.D115N|SMTN_uc003ajo.1_Intron|SMTN_uc011alh.1_RNA|SMTN_uc010gwe.1_Intron	NM_006932	NP_008863	P53814	SMTN_HUMAN	smoothelin isoform c	659					muscle organ development|smooth muscle contraction	actin cytoskeleton|cytoplasm	actin binding|structural constituent of muscle			large_intestine(2)|pancreas(1)	3						GCGGGCAGCTGATGGCTCTGC	0.687		NA											19	55					0	0	0	0
CADM2	253559	broad.mit.edu	37	3	86114798	86114798	+	Silent	SNP	C	C	T			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr3:86114798C>T	uc003dqj.2	+	9	1733	c.1107C>T	c.(1105-1107)CTC>CTT	p.L369L	CADM2_uc003dqk.2_Silent_p.L338L|CADM2_uc003dql.2_Silent_p.L371L	NM_153184	NP_694854	Q8N3J6	CADM2_HUMAN	immunoglobulin superfamily, member 4D	369	Helical; (Potential).				adherens junction organization|cell junction assembly	integral to membrane|plasma membrane				ovary(1)|lung(1)|kidney(1)|skin(1)	4		Lung NSC(201;0.0148)		LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157)		ACCATGCTCTCATAGGAGGAA	0.403		NA											6	18					0	0	0	0
ABHD10	55347	broad.mit.edu	37	3	111697969	111697969	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr3:111697969G>T	uc003dyk.3	+	1	142	c.61G>T	c.(61-63)GCA>TCA	p.A21S	ABHD10_uc011bhq.1_5'UTR	NM_018394	NP_060864	Q9NUJ1	ABHDA_HUMAN	abhydrolase domain containing 10 precursor	21						mitochondrion	serine-type peptidase activity				0						CTGGGGCTGGGCAGCCGTCCC	0.687		NA											6	31					0.00116845	0.0012296	1	0
CCDC80	151887	broad.mit.edu	37	3	112324383	112324383	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr3:112324383G>A	uc003dzf.2	-	8	2952	c.2734C>T	c.(2734-2736)CGC>TGC	p.R912C	CCDC80_uc011bhv.1_Missense_Mutation_p.R885C|CCDC80_uc003dzg.2_Missense_Mutation_p.R912C	NM_199512	NP_955806	Q76M96	CCD80_HUMAN	steroid-sensitive protein 1 precursor	912										ovary(2)	2						TCTGGGCAGCGCATCCCCAGT	0.473		NA											3	38					0	0	0	0
GP5	2814	broad.mit.edu	37	3	194118839	194118839	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr3:194118839A>T	uc003ftv.1	-	2	204	c.173T>A	c.(172-174)TTC>TAC	p.F58Y		NM_004488	NP_004479	P40197	GPV_HUMAN	glycoprotein V (platelet) precursor	58	Extracellular (Potential).				blood coagulation, intrinsic pathway|cell adhesion|platelet activation	integral to plasma membrane				skin(2)|breast(1)	3	all_cancers(143;6.64e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;7.38e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.06e-05)		GCCCATTCCGAAGAGCAGGAT	0.677		NA											46	73					0	0	0	0
NAT8L	339983	broad.mit.edu	37	4	2065645	2065645	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr4:2065645G>A	uc003geq.1	+	3	352	c.196G>A	c.(196-198)GAG>AAG	p.E66K		NM_178557	NP_848652	Q8N9F0	NAT8L_HUMAN	N-acetyltransferase 8-like (GCN5-related,	234	N-acetyltransferase.					integral to membrane|microsome|mitochondrial membrane|rough endoplasmic reticulum membrane	aspartate N-acetyltransferase activity				0			OV - Ovarian serous cystadenocarcinoma(23;0.0315)			GAAGGTGCTGGAGTTCGCCGT	0.652		NA											6	24					0	0	0	0
UGDH	7358	broad.mit.edu	37	4	39512453	39512453	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr4:39512453A>G	uc003guk.1	-	4	609	c.293T>C	c.(292-294)ATG>ACG	p.M98T	UGDH_uc011byp.1_Missense_Mutation_p.M1T|UGDH_uc003gul.1_Intron	NM_003359	NP_003350	O60701	UGDH_HUMAN	UDP-glucose dehydrogenase	98					glycosaminoglycan biosynthetic process|UDP-glucose metabolic process|UDP-glucuronate biosynthetic process|xenobiotic metabolic process	cytosol	electron carrier activity|NAD binding|UDP-glucose 6-dehydrogenase activity			large_intestine(1)|ovary(1)|central_nervous_system(1)|skin(1)	4					NADH(DB00157)	GCCTTTCCCCATTCCATAGGT	0.413		NA											20	67					0	0	0	0
NFXL1	152518	broad.mit.edu	37	4	47898591	47898591	+	Silent	SNP	G	G	A			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr4:47898591G>A	uc010igh.2	-	10	1455	c.1278C>T	c.(1276-1278)ATC>ATT	p.I426I	NFXL1_uc003gxp.2_Silent_p.I426I|NFXL1_uc003gxq.3_RNA|NFXL1_uc010igi.2_Silent_p.I426I	NM_152995	NP_694540	Q6ZNB6	NFXL1_HUMAN	nuclear transcription factor, X-box binding-like	426						integral to membrane|nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|lung(1)|skin(1)	3						AACATCTATGGATTCCGCATT	0.373		NA											7	38					0	0	0	0
UGT2B28	54490	broad.mit.edu	37	4	70156431	70156431	+	Silent	SNP	T	T	A			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr4:70156431T>A	uc003hej.2	+	5	1214	c.1212T>A	c.(1210-1212)GCT>GCA	p.A404A	UGT2B28_uc010ihr.2_Intron	NM_053039	NP_444267	Q9BY64	UDB28_HUMAN	UDP glucuronosyltransferase 2 family,	404					xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			skin(1)	1					Flunitrazepam(DB01544)	ATAACATTGCTCACATGAAGG	0.453		NA											21	129					0	0	0	0
UGT2B28	54490	broad.mit.edu	37	4	70156461	70156462	+	Missense_Mutation	DNP	AC	AC	TT			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr4:70156461_70156462AC>TT	uc003hej.2	+	5	1244_1245	c.1242_1243AC>TT	c.(1240-1245)AGACTG>AGTTTG	p.R414S	UGT2B28_uc010ihr.2_Intron	NM_053039	NP_444267	Q9BY64	UDB28_HUMAN	UDP glucuronosyltransferase 2 family,	414					xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			skin(1)	1					Flunitrazepam(DB01544)	CAGCTGTTAGACTGGACTTCCA	0.441		NA											12	132					0	0	0	0
SHROOM3	57619	broad.mit.edu	37	4	77661382	77661382	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr4:77661382G>A	uc011cbx.1	+	5	3009	c.2056G>A	c.(2056-2058)GAG>AAG	p.E686K	SHROOM3_uc011cbz.1_Missense_Mutation_p.E510K|SHROOM3_uc003hkf.1_Missense_Mutation_p.E561K|SHROOM3_uc003hkg.2_Missense_Mutation_p.E464K	NM_020859	NP_065910	Q8TF72	SHRM3_HUMAN	shroom family member 3 protein	686					apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding			skin(2)|ovary(1)	3			Lung(101;0.0903)			GGGAACCCAGGAGGGTTACCC	0.607		NA											53	72					0	0	0	0
RRH	10692	broad.mit.edu	37	4	110758732	110758732	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr4:110758732G>T	uc003hzv.2	+	5	725	c.691G>T	c.(691-693)GAC>TAC	p.D231Y		NM_006583	NP_006574	O14718	OPSX_HUMAN	peropsin	231	Cytoplasmic.				phototransduction|protein-chromophore linkage|visual perception	integral to plasma membrane	G-protein coupled receptor activity|photoreceptor activity			ovary(1)	1		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00109)		CCTCAACAGAGACTGGTCAGA	0.403		NA											7	23					0.000157383	0.000167934	1	0
TKTL2	84076	broad.mit.edu	37	4	164394114	164394114	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr4:164394114G>T	uc003iqp.3	-	1	934	c.773C>A	c.(772-774)GCA>GAA	p.A258E		NM_032136	NP_115512	Q9H0I9	TKTL2_HUMAN	transketolase-like 2	258						cytoplasm	metal ion binding|transketolase activity	p.A258V(1)		ovary(2)|skin(2)|pancreas(1)	5	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				CCAATTTTCTGCATCCTCAAT	0.408		NA											24	93					5.62e-17	6.46e-17	1	0
KIAA1712	80817	broad.mit.edu	37	4	175232005	175232005	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr4:175232005T>G	uc003itr.2	+	9	1371	c.957T>G	c.(955-957)AAT>AAG	p.N319K	KIAA1712_uc010iro.2_Missense_Mutation_p.N319K|KIAA1712_uc003its.2_RNA	NM_001040157	NP_001035247	Q9C0F1	CEP44_HUMAN	HBV PreS1-transactivated protein 3 isoform a	319						centrosome|midbody|spindle pole					0		Prostate(90;0.00276)|Melanoma(52;0.0179)|Renal(120;0.0376)|Breast(14;0.0991)|all_hematologic(60;0.124)|all_neural(102;0.196)		all cancers(43;4.06e-18)|Epithelial(43;1.18e-15)|OV - Ovarian serous cystadenocarcinoma(60;4.65e-09)|GBM - Glioblastoma multiforme(59;0.00098)|STAD - Stomach adenocarcinoma(60;0.0029)|LUSC - Lung squamous cell carcinoma(193;0.0949)		ACCTTCTGAATCCTCGTAAGT	0.274		NA											22	65					0	0	0	0
FAT1	2195	broad.mit.edu	37	4	187524850	187524850	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr4:187524850G>C	uc003izf.2	-	19	11018	c.10830C>G	c.(10828-10830)TAC>TAG	p.Y3610*		NM_005245	NP_005236	Q14517	FAT1_HUMAN	FAT tumor suppressor 1 precursor	3610	Extracellular (Potential).|Cadherin 33.				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						CATTGAGAAGGTATTGCCCTA	0.498		NA								HNSCC(5;0.00058)			6	20					0	0	0	0
VCAN	1462	broad.mit.edu	37	5	82817939	82817939	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr5:82817939G>A	uc003kii.3	+	7	4170	c.3814G>A	c.(3814-3816)GAA>AAA	p.E1272K	VCAN_uc003kij.3_Intron|VCAN_uc010jau.2_Missense_Mutation_p.E1272K|VCAN_uc003kik.3_Intron	NM_004385	NP_004376	P13611	CSPG2_HUMAN	versican isoform 1 precursor	1272	GAG-alpha (glucosaminoglycan attachment domain).				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			ovary(7)|skin(6)|lung(2)|central_nervous_system(1)	16		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		CAAGGAAACAGAAACCGATAT	0.453		NA											10	68					0	0	0	0
FAM172A	83989	broad.mit.edu	37	5	93294538	93294538	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr5:93294538T>C	uc010jbd.2	-	6	718	c.511A>G	c.(511-513)ATA>GTA	p.I171V	FAM172A_uc011cuf.1_Missense_Mutation_p.I125V|FAM172A_uc011cug.1_Intron|FAM172A_uc011cuh.1_Intron|FAM172A_uc011cui.1_RNA|FAM172A_uc011cuj.1_Intron|FAM172A_uc003kkm.3_Missense_Mutation_p.I171V	NM_032042	NP_114431	Q8WUF8	F172A_HUMAN	hypothetical protein LOC83989 isoform 1	171						endoplasmic reticulum|extracellular region					0						TCTTCATTTATAATAAGTCTT	0.388		NA											16	81					0	0	0	0
NUDT12	83594	broad.mit.edu	37	5	102894926	102894926	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr5:102894926A>T	uc003koi.2	-	3	543	c.450T>A	c.(448-450)TTT>TTA	p.F150L	NUDT12_uc011cvb.1_Missense_Mutation_p.F132L	NM_031438	NP_113626	Q9BQG2	NUD12_HUMAN	nudix-type motif 12	150						nucleus|peroxisome	metal ion binding|NAD+ diphosphatase activity				0		all_cancers(142;6.38e-08)|all_epithelial(76;1.99e-10)|Prostate(80;0.0138)|Lung NSC(167;0.0212)|Colorectal(57;0.0247)|all_lung(232;0.0283)|Ovarian(225;0.0423)		Epithelial(69;9.3e-13)|COAD - Colon adenocarcinoma(37;0.0221)		AGAAAAGAATAAAAACTGTGG	0.378		NA											8	42					0	0	0	0
KIF3A	11127	broad.mit.edu	37	5	132069993	132069993	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr5:132069993T>G	uc003kxo.2	-	2	338	c.184A>C	c.(184-186)ACT>CCT	p.T62P	KIF3A_uc003kxn.2_Missense_Mutation_p.T21P|KIF3A_uc011cxf.1_Missense_Mutation_p.T62P|KIF3A_uc003kxp.2_Missense_Mutation_p.T62P	NM_007054	NP_008985	Q9Y496	KIF3A_HUMAN	kinesin family member 3A	62	Kinesin-motor.				blood coagulation|organelle organization|plus-end-directed vesicle transport along microtubule	centrosome|cytosol|kinesin II complex|spindle microtubule	ATP binding|plus-end-directed microtubule motor activity|protein binding			pancreas(1)	1		all_cancers(142;0.0751)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GTATCAAAAGTAAATGTCTTT	0.368		NA											38	126					0	0	0	0
PCDHA4	56144	broad.mit.edu	37	5	140188217	140188217	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr5:140188217C>T	uc003lhi.2	+	1	1546	c.1445C>T	c.(1444-1446)GCG>GTG	p.A482V	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhh.1_Missense_Mutation_p.A482V|PCDHA4_uc011daa.1_Missense_Mutation_p.A482V	NM_018907	NP_061730	Q9UN74	PCDA4_HUMAN	protocadherin alpha 4 isoform 1 precursor	482	Cadherin 5.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			ovary(4)|skin(2)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGTGGGACGCGGACGCGCAG	0.657		NA											16	59					0	0	0	0
PCDHB8	56128	broad.mit.edu	37	5	140558908	140558908	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr5:140558908G>C	uc011dai.1	+	1	1479	c.1293G>C	c.(1291-1293)AGG>AGC	p.R431S	PCDHB16_uc003liv.2_5'Flank	NM_019120	NP_061993	Q9UN66	PCDB8_HUMAN	protocadherin beta 8 precursor	431	Cadherin 4.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			skin(4)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGACACCCAGGCTGACAACAC	0.532		NA											19	69					0	0	0	0
PCDHB15	56121	broad.mit.edu	37	5	140627104	140627104	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr5:140627104C>T	uc003lje.2	+	1	1958	c.1958C>T	c.(1957-1959)TCG>TTG	p.S653L		NM_018935	NP_061758	Q9Y5E8	PCDBF_HUMAN	protocadherin beta 15 precursor	653	Extracellular (Potential).|Cadherin 6.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			ovary(2)|breast(2)|skin(1)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCTCCGCGCTCGGCCACCGCC	0.697		NA											19	60					0	0	0	0
FGF1	2246	broad.mit.edu	37	5	141974914	141974914	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr5:141974914G>A	uc003lmm.2	-	4	489	c.409C>T	c.(409-411)CGG>TGG	p.R137W	FGF1_uc011dbi.1_3'UTR|FGF1_uc003lmn.3_Missense_Mutation_p.R137W|FGF1_uc003lmp.3_3'UTR|FGF1_uc003lmq.2_Missense_Mutation_p.R137W|FGF1_uc010jgj.2_Missense_Mutation_p.R136W|FGF1_uc003lmr.2_Missense_Mutation_p.R137W|FGF1_uc003lms.3_Missense_Mutation_p.R137W	NM_001144892	NP_001138364	P05230	FGF1_HUMAN	fibroblast growth factor 1 (acidic) isoform 1	137	Heparin-binding.				angiogenesis|cellular response to heat|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of angiogenesis|positive regulation of cell division|positive regulation of cell migration|positive regulation of cholesterol biosynthetic process|positive regulation of intracellular protein kinase cascade|positive regulation of transcription from RNA polymerase II promoter	cell cortex|cytosol|extracellular space	fibroblast growth factor receptor binding|growth factor activity|heparin binding|S100 alpha binding				0		all_neural(839;0.0416)|Ovarian(839;0.0955)|all_hematologic(541;0.1)|Prostate(461;0.157)|Lung NSC(810;0.21)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.00032)	Pentosan Polysulfate(DB00686)	TAGTGAGTCCGAGGACCGCGT	0.478		NA											15	41					0	0	0	0
TCERG1	10915	broad.mit.edu	37	5	145878147	145878147	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr5:145878147C>G	uc003lob.2	+	16	2320	c.2280C>G	c.(2278-2280)TTC>TTG	p.F760L	TCERG1_uc003loc.2_Missense_Mutation_p.F739L	NM_006706	NP_006697	O14776	TCRG1_HUMAN	transcription elongation regulator 1 isoform 1	760	FF 2.				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	protein binding|transcription coactivator activity			ovary(1)|skin(1)	2		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ATTCAAGATTCAAAGCAATTG	0.388		NA											16	43					0	0	0	0
ATP10B	23120	broad.mit.edu	37	5	160063201	160063201	+	Silent	SNP	G	G	T			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr5:160063201G>T	uc003lym.1	-	11	1963	c.1116C>A	c.(1114-1116)ATC>ATA	p.I372I	ATP10B_uc003lyp.2_Silent_p.I372I|ATP10B_uc011deg.1_Silent_p.I416I|ATP10B_uc003lyn.2_5'Flank|ATP10B_uc003lyo.2_Silent_p.I344I	NM_025153	NP_079429	O94823	AT10B_HUMAN	ATPase, class V, type 10B	372	Helical; (Potential).				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			ovary(3)|central_nervous_system(1)|pancreas(1)	5	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GGAGCAGGATGATCATTGTGA	0.493		NA											10	48					3.86e-05	4.14e-05	1	0
HIST1H2AH	85235	broad.mit.edu	37	6	27115271	27115271	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr6:27115271G>A	uc003niz.2	+	1	364	c.364G>A	c.(364-366)GAG>AAG	p.E122K	HIST1H2BK_uc003nix.1_5'Flank|hsa-mir-3143|MI0014167_5'Flank	NM_080596	NP_542163	Q96KK5	H2A1H_HUMAN	histone cluster 1, H2ah	122					nucleosome assembly	nucleosome|nucleus	DNA binding				0						TAAGAAGACTGAGAGCCACCA	0.522		NA											5	43					0	0	0	0
VARS	7407	broad.mit.edu	37	6	31749380	31749380	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr6:31749380C>T	uc003nxe.2	-	21	2845	c.2422G>A	c.(2422-2424)GAA>AAA	p.E808K	VARS_uc003nxf.1_5'Flank	NM_006295	NP_006286	P26640	SYVC_HUMAN	valyl-tRNA synthetase	808					translational elongation|valyl-tRNA aminoacylation	cytosol	ATP binding|protein binding|valine-tRNA ligase activity			upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3					L-Valine(DB00161)	CTCAGGTCTTCTGACTGAGGG	0.637		NA											13	40					0	0	0	0
TFEB	7942	broad.mit.edu	37	6	41655657	41655657	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr6:41655657C>T	uc003oqs.1	-	6	961	c.659G>A	c.(658-660)CGA>CAA	p.R220Q	TFEB_uc003oqt.1_Missense_Mutation_p.R220Q|TFEB_uc003oqu.1_Missense_Mutation_p.R234Q|TFEB_uc003oqv.1_Missense_Mutation_p.R220Q|TFEB_uc010jxo.1_Missense_Mutation_p.R220Q|TFEB_uc003oqr.1_Missense_Mutation_p.R135Q	NM_007162	NP_009093	P19484	TFEB_HUMAN	transcription factor EB	220					embryonic placenta development|humoral immune response|positive regulation of transcription from RNA polymerase II promoter	cytoplasm	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			ovary(1)	1	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;7.61e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00507)			TGTGAGCTCTCGCTTCTGGGT	0.478		NA	T	ALPHA	renal (childhood epithelioid)								14	53					0	0	0	0
KIAA1919	91749	broad.mit.edu	37	6	111587430	111587430	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr6:111587430G>A	uc003puv.3	+	4	1087	c.665G>A	c.(664-666)CGA>CAA	p.R222Q		NM_153369	NP_699200	Q5TF39	NAGT1_HUMAN	sodium-dependent glucose transporter 1	222	Cytoplasmic (Potential).				carbohydrate transport|sodium ion transport	apical plasma membrane|integral to membrane	symporter activity			ovary(3)	3		all_cancers(87;2.35e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.0209)		OV - Ovarian serous cystadenocarcinoma(136;0.055)|all cancers(137;0.0871)|Epithelial(106;0.0884)		GAGACATTTCGAAGAGCAAAA	0.343		NA											13	32					0	0	0	0
ROS1	6098	broad.mit.edu	37	6	117687343	117687343	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr6:117687343A>C	uc003pxp.1	-	18	2907	c.2708T>G	c.(2707-2709)ATT>AGT	p.I903S	ROS1_uc011ebi.1_RNA|GOPC_uc003pxq.1_Intron	NM_002944	NP_002935	P08922	ROS_HUMAN	proto-oncogene c-ros-1 protein precursor	903	Extracellular (Potential).				transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity			lung(8)|ovary(6)|central_nervous_system(3)|skin(3)|stomach(2)|breast(2)|large_intestine(1)	25		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		AGTTGTGATAATCCTAAAGCC	0.423		NA	T	GOPC|ROS1	glioblastoma|NSCLC								16	106					0	0	0	0
SERINC1	57515	broad.mit.edu	37	6	122777667	122777667	+	Silent	SNP	T	T	C			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr6:122777667T>C	uc003pyy.1	-	3	400	c.330A>G	c.(328-330)AAA>AAG	p.K110K		NM_020755	NP_065806	Q9NRX5	SERC1_HUMAN	serine incorporator 1	110	Cytoplasmic (Potential).				phosphatidylserine metabolic process|phospholipid biosynthetic process|positive regulation of transferase activity|sphingolipid metabolic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	L-serine transmembrane transporter activity|protein binding			ovary(1)	1				GBM - Glioblastoma multiforme(226;0.126)		TACTCTTCACTTTGATCATTA	0.378		NA											11	38					0	0	0	0
BCLAF1	9774	broad.mit.edu	37	6	136597369	136597369	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr6:136597369C>T	uc003qgx.1	-	5	1547	c.1294G>A	c.(1294-1296)GAG>AAG	p.E432K	BCLAF1_uc003qgw.1_Intron|BCLAF1_uc003qgy.1_Missense_Mutation_p.E430K|BCLAF1_uc011edc.1_Intron|BCLAF1_uc011edd.1_RNA|BCLAF1_uc011ede.1_Missense_Mutation_p.E430K	NM_014739	NP_055554	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1 isoform	432					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			ovary(1)	1	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		CCTTCCTCCTCAGTATTCCGG	0.413		NA											13	218					0	0	0	0
MAP7	9053	broad.mit.edu	37	6	136710510	136710510	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr6:136710510C>G	uc003qgz.2	-	4	636	c.390G>C	c.(388-390)CAG>CAC	p.Q130H	MAP7_uc011edf.1_Missense_Mutation_p.Q115H|MAP7_uc011edg.1_Missense_Mutation_p.Q152H|MAP7_uc010kgu.2_Missense_Mutation_p.Q152H|MAP7_uc011edh.1_Missense_Mutation_p.Q152H|MAP7_uc010kgv.2_Missense_Mutation_p.Q152H|MAP7_uc010kgs.2_5'UTR|MAP7_uc011edi.1_5'UTR|MAP7_uc010kgq.1_Intron|MAP7_uc003qha.1_Missense_Mutation_p.Q130H|MAP7_uc010kgr.2_Intron|MAP7_uc010kgt.2_Missense_Mutation_p.Q152H	NM_003980	NP_003971	Q14244	MAP7_HUMAN	microtubule-associated protein 7	130	Potential.				establishment or maintenance of cell polarity|microtubule cytoskeleton organization|protein localization in plasma membrane|response to osmotic stress	basolateral plasma membrane|microtubule|microtubule associated complex|nucleus|perinuclear region of cytoplasm	receptor binding|structural molecule activity				0	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00199)|OV - Ovarian serous cystadenocarcinoma(155;0.00643)		CCTCAAGTCTCTGCCTCCGCT	0.562		NA											20	89					0	0	0	0
SYNE1	23345	broad.mit.edu	37	6	152694261	152694261	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr6:152694261C>T	uc010kiw.2	-	59	10020	c.9418G>A	c.(9418-9420)GCG>ACG	p.A3140T	SYNE1_uc003qot.3_Missense_Mutation_p.A3147T|SYNE1_uc003qou.3_Missense_Mutation_p.A3140T|SYNE1_uc010kja.1_5'UTR|SYNE1_uc003qov.2_Missense_Mutation_p.A218T	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	3140	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)		ATCCCTTTCGCTTTCTCTTTG	0.393		NA								HNSCC(10;0.0054)			29	118					0	0	0	0
THSD7A	221981	broad.mit.edu	37	7	11630197	11630197	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr7:11630197C>T	uc003ssf.3	-	4	1595	c.1343G>A	c.(1342-1344)CGC>CAC	p.R448H		NM_015204	NP_056019	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	448	Extracellular (Potential).|TSP type-1 4.					integral to membrane				ovary(3)	3				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		CTGGTTGCCGCGCCTCTTGTC	0.557		NA								HNSCC(18;0.044)			9	29					0	0	0	0
NPY	4852	broad.mit.edu	37	7	24324986	24324986	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr7:24324986G>A	uc003sww.1	+	2	213	c.127G>A	c.(127-129)GAG>AAG	p.E43K		NM_000905	NP_000896	P01303	NPY_HUMAN	neuropeptide Y precursor	43					adult feeding behavior|calcium ion transport|cell proliferation|cellular component movement|central nervous system neuron development|cerebral cortex development|digestion|G-protein signaling, coupled to cyclic nucleotide second messenger|neuron projection development|neuropeptide signaling pathway|positive regulation of appetite|synaptic transmission	cell|extracellular space	calcium channel regulator activity|G-protein coupled receptor activity|neuropeptide hormone activity				0						CGCACCAGCGGAGGACATGGC	0.682		NA											7	27					0	0	0	0
UPP1	7378	broad.mit.edu	37	7	48146983	48146983	+	Silent	SNP	C	C	G			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr7:48146983C>G	uc003toj.2	+	9	1201	c.672C>G	c.(670-672)CTC>CTG	p.L224L	UPP1_uc003tok.2_Silent_p.L224L|UPP1_uc003tol.2_Silent_p.L224L|UPP1_uc011kch.1_Silent_p.L17L|UPP1_uc003ton.2_Silent_p.L87L|UPP1_uc003too.2_Silent_p.L87L	NM_181597	NP_853628	Q16831	UPP1_HUMAN	uridine phosphorylase 1	224					nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process|pyrimidine nucleoside salvage	cytosol	uridine phosphorylase activity				0						ATGGGGCTCTCTGCTCCTACA	0.582		NA											21	36					0	0	0	0
ZNF107	51427	broad.mit.edu	37	7	64167053	64167053	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr7:64167053G>A	uc003ttd.2	+	7	1157	c.371G>A	c.(370-372)AGA>AAA	p.R124K	ZNF107_uc003tte.2_Missense_Mutation_p.R124K	NM_016220	NP_057304	Q9UII5	ZN107_HUMAN	zinc finger protein 107	124	C2H2-type 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Lung NSC(55;0.00948)|all_lung(88;0.0249)				CAGCATAGAAGAATTCATACT	0.328		NA											6	27					0	0	0	0
PCLO	27445	broad.mit.edu	37	7	82585177	82585177	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr7:82585177C>T	uc003uhx.2	-	5	5381	c.5092G>A	c.(5092-5094)GAA>AAA	p.E1698K	PCLO_uc003uhv.2_Missense_Mutation_p.E1698K	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	piccolo isoform 1	1629					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			ovary(7)	7						ATTTCCAATTCTGGCTCTTCG	0.433		NA											8	26					0	0	0	0
SLC12A9	56996	broad.mit.edu	37	7	100457855	100457855	+	Splice_Site	SNP	G	G	A			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr7:100457855G>A	uc003uwp.2	+	9	1360	c.1218_splice	c.e9+1	p.Q406_splice	SLC12A9_uc003uwq.2_Splice_Site_p.Q317_splice|SLC12A9_uc011kki.1_Translation_Start_Site|SLC12A9_uc003uwr.2_Splice_Site_p.Q142_splice|SLC12A9_uc003uws.2_Translation_Start_Site|SLC12A9_uc003uwt.2_Splice_Site_p.Q142_splice|SLC12A9_uc003uwv.2_Translation_Start_Site	NM_020246	NP_064631	Q9BXP2	S12A9_HUMAN	solute carrier family 12 (potassium/chloride							integral to membrane|plasma membrane	cation:chloride symporter activity				0	Lung NSC(181;0.041)|all_lung(186;0.0581)					CCTGGTGCAGGTGAGCCTTCT	0.562		NA											8	26					0	0	0	0
PLOD3	8985	broad.mit.edu	37	7	100859997	100859997	+	Silent	SNP	C	C	T			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr7:100859997C>T	uc003uyd.2	-	2	636	c.180G>A	c.(178-180)GAG>GAA	p.E60E	ZNHIT1_uc003uye.2_5'Flank|ZNHIT1_uc003uyf.2_5'Flank	NM_001084	NP_001075	O60568	PLOD3_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase	60					protein modification process	rough endoplasmic reticulum membrane	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein binding			ovary(1)|skin(1)	2	Lung NSC(181;0.168)|all_lung(186;0.215)				Succinic acid(DB00139)|Vitamin C(DB00126)	AGTTGAAGAACTCCGCAGAGC	0.607		NA											7	30					0	0	0	0
CFTR	1080	broad.mit.edu	37	7	117292972	117292972	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr7:117292972A>C	uc003vjd.2	+	24	4082	c.3950A>C	c.(3949-3951)AAA>ACA	p.K1317T	CFTR_uc011knq.1_Missense_Mutation_p.K723T	NM_000492	NP_000483	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance	1317	Cytoplasmic (Potential).|ABC transporter 2.				respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding			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)	GAAATATGGAAAGTTGCAGAT	0.338		NA							Cystic_Fibrosis				8	32					0	0	0	0
HR	55806	broad.mit.edu	37	8	21986633	21986633	+	Silent	SNP	C	C	T			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr8:21986633C>T	uc003xas.2	-	2	716	c.51G>A	c.(49-51)ACG>ACA	p.T17T	HR_uc003xat.2_Silent_p.T17T|HR_uc010lts.2_Silent_p.T17T	NM_005144	NP_005135	O43593	HAIR_HUMAN	hairless protein isoform a	17							DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|ovary(1)	2		Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116)		KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)		TCTCTGGGGCCGTCTTCTCCC	0.652		NA											4	78					0	0	0	0
ADRA1A	148	broad.mit.edu	37	8	26627932	26627932	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr8:26627932C>T	uc003xfh.1	-	2	1571	c.1135G>A	c.(1135-1137)GTG>ATG	p.V379M	ADRA1A_uc003xfc.1_Missense_Mutation_p.V379M|ADRA1A_uc010lul.1_Intron|ADRA1A_uc003xfd.1_Intron|ADRA1A_uc003xfe.1_Missense_Mutation_p.V379M|ADRA1A_uc010lum.1_Intron|ADRA1A_uc003xff.1_Intron|ADRA1A_uc003xfg.1_Missense_Mutation_p.V379M	NM_000680	NP_000671	P35348	ADA1A_HUMAN	alpha-1A-adrenergic receptor isoform 1	379	Cytoplasmic (By similarity).				activation of phospholipase C activity|aging|apoptosis|calcium ion transport into cytosol|cell-cell signaling|intracellular protein kinase cascade|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of synaptic transmission, GABAergic|positive regulation of action potential|positive regulation of cardiac muscle contraction|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase C signaling cascade|positive regulation of vasoconstriction|response to drug|response to hormone stimulus|response to stress|smooth muscle contraction	integral to plasma membrane	alpha1-adrenergic receptor activity			breast(2)|ovary(1)|lung(1)|skin(1)	5		all_cancers(63;0.122)|Ovarian(32;2.61e-05)|all_epithelial(46;0.118)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;4.92e-10)|Colorectal(74;0.0132)|READ - Rectum adenocarcinoma(644;0.115)	Alfuzosin(DB00346)|Amiodarone(DB01118)|Amphetamine(DB00182)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Carvedilol(DB01136)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Epinastine(DB00751)|Epinephrine(DB00668)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Maprotiline(DB00934)|Mephentermine(DB01365)|Metaraminol(DB00610)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Midodrine(DB00211)|Nefazodone(DB01149)|Nicergoline(DB00699)|Nilutamide(DB00665)|Norepinephrine(DB00368)|Norgestrel(DB00506)|Oxymetazoline(DB00935)|Perphenazine(DB00850)|Phendimetrazine(DB01579)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Prazosin(DB00457)|Promazine(DB00420)|Promethazine(DB01069)|Propericiazine(DB01608)|Propiomazine(DB00777)|Pseudoephedrine(DB00852)|Risperidone(DB00734)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)|Thioridazine(DB00679)|Tolazoline(DB00797)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Ziprasidone(DB00246)	CTTGATCCCACGGGGATGCGC	0.552		NA											23	78					0	0	0	0
DCAF13	25879	broad.mit.edu	37	8	104453792	104453792	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr8:104453792C>G	uc003yln.2	+	10	1929	c.1652C>G	c.(1651-1653)TCT>TGT	p.S551C	DCAF13_uc003ylo.2_Missense_Mutation_p.S262C	NM_015420	NP_056235	Q9NV06	DCA13_HUMAN	WD repeats and SOF1 domain containing	399					rRNA processing	CUL4 RING ubiquitin ligase complex|nucleolus|ribonucleoprotein complex				breast(1)	1						CTACCAAAATCTATCTATAGC	0.393		NA											26	112					0	0	0	0
TTC35	9694	broad.mit.edu	37	8	109465334	109465334	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr8:109465334G>C	uc003ymw.1	+	4	298	c.263G>C	c.(262-264)AGA>ACA	p.R88T		NM_014673	NP_055488	Q15006	TTC35_HUMAN	tetratricopeptide repeat domain 35	88	TPR 1.					endoplasmic reticulum|nucleus	binding			ovary(1)|central_nervous_system(1)	2			OV - Ovarian serous cystadenocarcinoma(57;2.34e-10)			GGCAGTCACAGAGTCAAGCGA	0.398		NA											5	38					0	0	0	0
CYC1	1537	broad.mit.edu	37	8	145150852	145150852	+	Silent	SNP	G	G	C			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr8:145150852G>C	uc003zaz.3	+	2	289	c.246G>C	c.(244-246)GTG>GTC	p.V82V	CYC1_uc003zay.2_Silent_p.V23V	NM_001916	NP_001907	P08574	CY1_HUMAN	cytochrome c-1	82					respiratory electron transport chain|transport	cell junction|integral to membrane|mitochondrial inner membrane|respiratory chain	electron transporter, transferring electrons from CoQH2-cytochrome c reductase complex and cytochrome c oxidase complex activity|heme binding				0	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;8.71e-40)|all cancers(56;3e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			ATTCGGCTGTGAGTGCCAGTG	0.662		NA									OREG0019052	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	12	71					0	0	0	0
TTC39B	158219	broad.mit.edu	37	9	15185309	15185309	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr9:15185309G>A	uc003zlr.1	-	16	1506	c.1385C>T	c.(1384-1386)CCT>CTT	p.P462L	TTC39B_uc003zlq.1_Missense_Mutation_p.P431L|TTC39B_uc011lmp.1_Missense_Mutation_p.P363L|TTC39B_uc010mie.1_Missense_Mutation_p.P460L|TTC39B_uc011lmq.1_Missense_Mutation_p.P449L|TTC39B_uc011lmr.1_Missense_Mutation_p.P393L|TTC39B_uc003zlp.1_Missense_Mutation_p.P45L	NM_152574	NP_689787	Q5VTQ0	TT39B_HUMAN	tetratricopeptide repeat domain 39B	462							binding			ovary(1)	1						CACAGGTGCAGGTAAGGAGGC	0.473		NA											43	102					0	0	0	0
KIAA1797	54914	broad.mit.edu	37	9	20981679	20981679	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr9:20981679G>C	uc003zog.1	+	40	4995	c.4632G>C	c.(4630-4632)AAG>AAC	p.K1544N	KIAA1797_uc003zoh.1_Missense_Mutation_p.K980N	NM_017794	NP_060264	Q5VW36	K1797_HUMAN	hypothetical protein LOC54914	1544						integral to membrane	binding			ovary(8)|breast(1)|kidney(1)	10				GBM - Glioblastoma multiforme(3;2.1e-125)|Lung(42;2.76e-14)|LUSC - Lung squamous cell carcinoma(42;1.99e-11)		TGCCAAATAAGATTCGGGTGA	0.448		NA											5	48					0	0	0	0
ABCA1	19	broad.mit.edu	37	9	107564419	107564419	+	Silent	SNP	A	A	C			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr9:107564419A>C	uc004bcl.2	-	34	4927	c.4614T>G	c.(4612-4614)GGT>GGG	p.G1538G		NM_005502	NP_005493	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A member 1	1538	Extracellular.				Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding			large_intestine(4)|lung(4)|ovary(4)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1)	17				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	TATTACTGACACCCAGGGAAA	0.448		NA											8	35					0	0	0	0
COL27A1	85301	broad.mit.edu	37	9	116930511	116930511	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr9:116930511C>T	uc011lxl.1	+	3	676	c.676C>T	c.(676-678)CAC>TAC	p.H226Y	COL27A1_uc004bii.2_RNA|COL27A1_uc010mvd.1_Missense_Mutation_p.H76Y	NM_032888	NP_116277	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1 precursor	226	Laminin G-like.				cell adhesion		extracellular matrix structural constituent			ovary(3)|skin(1)	4						GCAGGTCGCTCACAATTACTG	0.557		NA											24	64					0	0	0	0
COL5A1	1289	broad.mit.edu	37	9	137620520	137620520	+	Missense_Mutation	SNP	C	C	T	rs148548209		TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr9:137620520C>T	uc004cfe.2	+	6	1173	c.791C>T	c.(790-792)ACG>ATG	p.T264M		NM_000093	NP_000084	P20908	CO5A1_HUMAN	alpha 1 type V collagen preproprotein	264	Nonhelical region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|kidney(1)	11		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		TTTCAGTACACGGAAGGAGAC	0.612		NA											46	173					0	0	0	0
COL5A1	1289	broad.mit.edu	37	9	137716559	137716559	+	Silent	SNP	C	C	T			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr9:137716559C>T	uc004cfe.2	+	62	5194	c.4812C>T	c.(4810-4812)TAC>TAT	p.Y1604Y	uc004cff.2_Intron	NM_000093	NP_000084	P20908	CO5A1_HUMAN	alpha 1 type V collagen preproprotein	1604	Nonhelical region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|kidney(1)	11		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		ACGTGGACTACGCGGACGGCA	0.622		NA											12	29					0	0	0	0
CDKL5	6792	broad.mit.edu	37	X	18668577	18668577	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chrX:18668577G>A	uc004cym.2	+	20	3098	c.2845G>A	c.(2845-2847)GTC>ATC	p.V949I	CDKL5_uc004cyn.2_Missense_Mutation_p.V949I|RS1_uc004cyo.2_Intron	NM_003159	NP_003150	O76039	CDKL5_HUMAN	cyclin-dependent kinase-like 5	949					neuron migration|positive regulation of axon extension|positive regulation of dendrite morphogenesis|positive regulation of Rac GTPase activity|protein autophosphorylation	dendrite cytoplasm|dendritic growth cone|nucleus	ATP binding|cyclin-dependent protein kinase activity|Rac GTPase binding			ovary(2)|large_intestine(1)|stomach(1)|central_nervous_system(1)|skin(1)	6	Hepatocellular(33;0.183)					CACTCCGTGCGTCCCAAACCG	0.582		NA											23	59					0	0	0	0
PJA1	64219	broad.mit.edu	37	X	68381831	68381831	+	Silent	SNP	A	A	C			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chrX:68381831A>C	uc004dxh.2	-	2	1537	c.1251T>G	c.(1249-1251)CCT>CCG	p.P417P	PJA1_uc011mpi.1_Silent_p.P135P|PJA1_uc004dxg.2_Silent_p.P229P|PJA1_uc004dxi.2_Silent_p.P362P	NM_145119	NP_660095	Q8NG27	PJA1_HUMAN	praja 1 isoform a	417							zinc ion binding				0						CACCGGGGCCAGGGCTGGTGC	0.622		NA											8	55					0	0	0	0
ARL13A	392509	broad.mit.edu	37	X	100240775	100240775	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chrX:100240775A>T	uc004ego.2	+	4	366	c.250A>T	c.(250-252)AAC>TAC	p.N84Y	ARL13A_uc011mrf.1_Missense_Mutation_p.N84Y|ARL13A_uc010nng.2_Missense_Mutation_p.N84Y	NM_001012990	NP_001013008	Q5H913	AR13A_HUMAN	ADP-ribosylation factor-like 13 isoform a	84							GTP binding			ovary(1)	1						AGCATGGCCAAACTACTATGC	0.468		NA											15	23					0	0	0	0
IRS4	8471	broad.mit.edu	37	X	107979062	107979062	+	Silent	SNP	G	G	A			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chrX:107979062G>A	uc004eoc.2	-	1	546	c.513C>T	c.(511-513)TTC>TTT	p.F171F		NM_003604	NP_003595	O14654	IRS4_HUMAN	insulin receptor substrate 4	171	PH.					plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity			ovary(4)|large_intestine(2)|lung(1)|breast(1)|skin(1)|pancreas(1)	10						CGTCTTGGGTGAAAAGAGCAA	0.597		NA											7	55					0	0	0	0
DOCK11	139818	broad.mit.edu	37	X	117775197	117775197	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chrX:117775197G>T	uc004eqp.2	+	39	4252	c.4189G>T	c.(4189-4191)GAA>TAA	p.E1397*	DOCK11_uc004eqq.2_Nonsense_Mutation_p.E1176*	NM_144658	NP_653259	Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11	1397					blood coagulation	cytosol	GTP binding			ovary(3)	3						GGCACTTCTTGAAGGCAATAC	0.368		NA											20	62					1.18e-14	1.35e-14	1	0
ZCCHC12	170261	broad.mit.edu	37	X	117959641	117959641	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chrX:117959641C>T	uc004equ.2	+	4	907	c.434C>T	c.(433-435)GCC>GTC	p.A145V		NM_173798	NP_776159	Q6PEW1	ZCH12_HUMAN	zinc finger, CCHC domain containing 12	145					regulation of transcription, DNA-dependent|transcription, DNA-dependent		nucleic acid binding|zinc ion binding			ovary(1)	1						ggggagaaagcctccctttat	0.01		NA											35	110					0	0	0	0
RABGGTB	5876	broad.mit.edu	37	1	76255009	76255009	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr1:76255009delC	uc001dgy.1	+	3	348	c.277delC	c.(277-279)CCTfs	p.P93fs	RABGGTB_uc009wbt.1_RNA|RABGGTB_uc001dha.1_Frame_Shift_Del_p.P47fs|SNORD45B_uc009wbv.1_5'Flank	NM_004582	NP_004573	P53611	PGTB2_HUMAN	RAB geranylgeranyltransferase, beta subunit	93	PFTB 2.				protein modification process|visual perception		metal ion binding|protein binding|Rab geranylgeranyltransferase activity			ovary(1)	1						CGGACATGATCCTCATCTTTT	0.368		NA											21	78	---	---	---	---	NA	NA	NA	NA
WHSC1	7468	broad.mit.edu	37	4	1957868	1957869	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr4:1957868_1957869insC	uc003gdz.3	+	15	3010_3011	c.2834_2835insC	c.(2833-2835)GGCfs	p.G945fs	WHSC1_uc003geb.3_Frame_Shift_Ins_p.G945fs|WHSC1_uc003gec.3_Frame_Shift_Ins_p.G945fs|WHSC1_uc003ged.3_Frame_Shift_Ins_p.G945fs|WHSC1_uc003gee.3_RNA|WHSC1_uc003gef.3_RNA|WHSC1_uc003gei.3_Frame_Shift_Ins_p.G164fs|WHSC1_uc011bvh.1_Frame_Shift_Ins_p.G6fs|WHSC1_uc010icf.2_Frame_Shift_Ins_p.G293fs	NM_001042424	NP_001035889	O96028	NSD2_HUMAN	Wolf-Hirschhorn syndrome candidate 1 protein	945					anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|cytoplasm|nuclear membrane|nucleolus	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			ovary(3)|lung(3)|skin(2)|pancreas(1)	9		all_epithelial(65;1.34e-05)	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)		GGGGACCGGGGCAGCCGCTACC	0.51		NA	T	IGH@	MM								20	177	---	---	---	---	NA	NA	NA	NA
SEMA4D	10507	broad.mit.edu	37	9	91978793	91978793	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr9:91978793delT	uc011ltm.1	-	19	2527	c.1955delA	c.(1954-1956)CATfs	p.H652fs	SEMA4D_uc011ltn.1_RNA|SEMA4D_uc011lto.1_RNA|SEMA4D_uc004aql.2_RNA|SEMA4D_uc004aqm.2_RNA	NM_001142287	NP_001135759	Q92854	SEM4D_HUMAN	semaphorin 4D isoform 2	Error:Variant_position_missing_in_Q92854_after_alignment					anti-apoptosis|axon guidance|cell adhesion|immune response	integral to membrane|plasma membrane	receptor activity|receptor binding			ovary(1)|pancreas(1)	2						GGGCAGTGCATGGGTCTGCAC	0.607		NA											8	79	---	---	---	---	NA	NA	NA	NA
NOTCH1	4851	broad.mit.edu	37	9	139409935	139409936	+	Frame_Shift_Ins	INS	-	-	TG			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr9:139409935_139409936insTG	uc004chz.2	-	11	1902_1903	c.1902_1903insCA	c.(1900-1905)ACAGGAfs	p.T634fs	NOTCH1_uc004cia.1_5'Flank	NM_017617	NP_060087	P46531	NOTC1_HUMAN	notch1 preproprotein	634_635	Extracellular (Potential).|EGF-like 16; 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)		GGCCGGCCACCTGTGGTCCCCT	0.698		NA	T|Mis|O	TRB@	T-ALL					HNSCC(8;0.001)			14	41	---	---	---	---	NA	NA	NA	NA
