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
AGRN	375790	broad.mit.edu	37	1	985677	985677	+	Silent	SNP	G	G	C			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr1:985677G>C	uc001ack.1	+	28	4994	c.4944G>C	c.(4942-4944)CTG>CTC	p.L1648L		NM_198576	NP_940978	O00468	AGRIN_HUMAN	agrin precursor	1648	Laminin G-like 2.				axon guidance|clustering of voltage-gated sodium channels|muscarinic acetylcholine receptor signaling pathway|receptor clustering	basal lamina	laminin binding|structural constituent of cytoskeleton			central_nervous_system(2)|breast(1)	3	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)		ACCTGGAGCTGAGAGGCCTGC	0.687		NA											18	147					0	0	0	0
DVL1	1855	broad.mit.edu	37	1	1277124	1277124	+	Silent	SNP	G	G	A			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr1:1277124G>A	uc001aer.3	-	5	575	c.528C>T	c.(526-528)GAC>GAT	p.D176D	DVL1_uc002quu.2_5'Flank|DVL1_uc009vka.2_5'Flank|DVL1_uc001aeu.1_5'UTR	NM_004421	NP_004412	O14640	DVL1_HUMAN	dishevelled 1	176					canonical Wnt receptor signaling pathway|dendrite morphogenesis|intracellular signal transduction|negative regulation of protein binding|negative regulation of protein kinase activity|neural tube development|neuromuscular junction development|neurotransmitter secretion|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway|protein localization to nucleus|receptor clustering|transcription from RNA polymerase II promoter|Wnt receptor signaling pathway, planar cell polarity pathway	cytoplasmic membrane-bounded vesicle|cytosol|plasma membrane|synapse|synaptosome	frizzled binding|identical protein binding|protein kinase binding|signal transducer activity				0	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		TGGACGCGCTGTCTGGGGGCA	0.677		NA											9	39					0	0	0	0
TMEM82	388595	broad.mit.edu	37	1	16074093	16074093	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr1:16074093C>T	uc001axc.2	+	6	1136	c.998C>T	c.(997-999)TCG>TTG	p.S333L		NM_001013641	NP_001013663	A0PJX8	TMM82_HUMAN	transmembrane protein 82	333						integral to membrane				breast(1)|central_nervous_system(1)	2		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.73e-07)|COAD - Colon adenocarcinoma(227;3.49e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000114)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CCCCTGCCCTCGGCACCCCAG	0.607		NA											12	133					0	0	0	0
ECE1	1889	broad.mit.edu	37	1	21560052	21560052	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr1:21560052G>A	uc001bek.2	-	14	1744	c.1669C>T	c.(1669-1671)CAG>TAG	p.Q557*	ECE1_uc001bem.2_Nonsense_Mutation_p.Q541*|ECE1_uc001bej.2_Nonsense_Mutation_p.Q545*|ECE1_uc001bei.2_Nonsense_Mutation_p.Q554*|ECE1_uc010odl.1_Nonsense_Mutation_p.Q557*|ECE1_uc009vqa.1_Nonsense_Mutation_p.Q557*	NM_001397	NP_001388	P42892	ECE1_HUMAN	endothelin converting enzyme 1 isoform 1	557	Extracellular (Potential).				bradykinin catabolic process|calcitonin catabolic process|ear development|embryonic digit morphogenesis|endothelin maturation|heart development|positive regulation of receptor recycling|substance P catabolic process	early endosome|external side of plasma membrane|integral to membrane|intrinsic to endosome membrane|membrane fraction|perinuclear region of cytoplasm|plasma membrane|Weibel-Palade body	metal ion binding|metalloendopeptidase activity|protein homodimerization activity			ovary(2)|skin(1)	3		Lung NSC(340;1.14e-05)|all_lung(284;1.23e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00147)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0183)|OV - Ovarian serous cystadenocarcinoma(117;4.83e-27)|COAD - Colon adenocarcinoma(152;1.36e-06)|GBM - Glioblastoma multiforme(114;1.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000162)|STAD - Stomach adenocarcinoma(196;0.00326)|KIRC - Kidney renal clear cell carcinoma(1967;0.00755)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.206)		GGAACTCACTGATCTCTGTTG	0.577		NA											10	55					0	0	0	0
S100PBP	64766	broad.mit.edu	37	1	33292423	33292423	+	Silent	SNP	C	C	A			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr1:33292423C>A	uc001bvz.2	+	3	1000	c.723C>A	c.(721-723)ATC>ATA	p.I241I	S100PBP_uc001bwa.1_Silent_p.I241I|S100PBP_uc001bwb.1_Silent_p.I241I|S100PBP_uc001bwc.2_Silent_p.I241I|S100PBP_uc001bwd.2_RNA	NM_022753	NP_073590	Q96BU1	S1PBP_HUMAN	S100P binding protein isoform a	241						nucleus	calcium-dependent protein binding				0		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				TCTCTCGGATCTCAGACCATT	0.428		NA											16	74					2.23e-06	2.48e-06	1	0
MACF1	23499	broad.mit.edu	37	1	39945527	39945527	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr1:39945527C>G	uc010oiu.1	+	62	17407	c.17276C>G	c.(17275-17277)TCC>TGC	p.S5759C	MACF1_uc010ois.1_Missense_Mutation_p.S5251C|MACF1_uc001cde.1_Missense_Mutation_p.S128C|MACF1_uc001cdf.1_Missense_Mutation_p.S134C|MACF1_uc001cdg.2_Missense_Mutation_p.S42C|MACF1_uc001cdh.2_Missense_Mutation_p.S42C	NM_033044	NP_149033	Q9UPN3	MACF1_HUMAN	microfilament and actin filament cross-linker	7209	C-terminal tail (By similarity).				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			ovary(8)|breast(3)|central_nervous_system(3)|skin(2)	16	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GAGGGAGCATCCCAGGGAATG	0.488		NA											4	93					0	0	0	0
RAD54L	8438	broad.mit.edu	37	1	46736347	46736347	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr1:46736347C>G	uc009vye.2	+	11	1173	c.1059C>G	c.(1057-1059)TTC>TTG	p.F353L	RAD54L_uc001cpl.2_Missense_Mutation_p.F353L|RAD54L_uc001cpm.1_Missense_Mutation_p.F173L	NM_001142548	NP_001136020	Q92698	RAD54_HUMAN	RAD54-like protein	353					meiosis	nucleus	ATP binding|DNA binding|helicase activity			ovary(2)|skin(1)	3	Acute lymphoblastic leukemia(166;0.155)	Breast(1374;0.0634)		KIRC - Kidney renal clear cell carcinoma(1967;0.000896)		CCCATGAATTCAAGAAGCATT	0.448		NA						Direct_reversal_of_damage|Homologous_recombination					10	149					0	0	0	0
STIL	6491	broad.mit.edu	37	1	47737808	47737808	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr1:47737808C>T	uc001crc.1	-	13	2478	c.2323G>A	c.(2323-2325)GAA>AAA	p.E775K	TAL1_uc001crb.1_Intron|STIL_uc010omn.1_Missense_Mutation_p.E728K|STIL_uc010omo.1_Missense_Mutation_p.E775K|STIL_uc001crd.1_Missense_Mutation_p.E775K|STIL_uc001cre.1_Missense_Mutation_p.E775K|STIL_uc001crf.1_Missense_Mutation_p.E388K|STIL_uc001crg.1_Missense_Mutation_p.E728K	NM_003035	NP_003026	Q15468	STIL_HUMAN	SCL/TAL1 interrupting locus isoform 2	775	PIN1-binding (By similarity).				cell proliferation|multicellular organismal development	centrosome|cytosol				lung(2)|skin(1)	3		Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444)				GACTGTGCTTCCACAGAAACC	0.433		NA											4	79					0	0	0	0
ANGPTL3	27329	broad.mit.edu	37	1	63063358	63063358	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr1:63063358G>A	uc001das.1	+	1	172	c.121G>A	c.(121-123)GAC>AAC	p.D41N	DOCK7_uc001dan.2_Intron|DOCK7_uc001dao.2_Intron|DOCK7_uc001dap.2_Intron|DOCK7_uc001daq.2_Intron|DOCK7_uc009wah.1_Intron	NM_014495	NP_055310	Q9Y5C1	ANGL3_HUMAN	angiopoietin-like 3 precursor	41					acylglycerol homeostasis|artery morphogenesis|cell-matrix adhesion|cholesterol homeostasis|cholesterol metabolic process|fatty acid metabolic process|glycerol metabolic process|integrin-mediated signaling pathway|lipid storage|negative regulation of lipoprotein lipase activity|negative regulation of phospholipase activity|phospholipid catabolic process|phospholipid homeostasis|positive regulation of angiogenesis|positive regulation of cell migration|positive regulation of lipid catabolic process|triglyceride homeostasis	extracellular space	cell surface binding|growth factor activity|integrin binding|phospholipase inhibitor activity				0						TGCTATGTTAGACGATGTAAA	0.348		NA											16	95					0	0	0	0
PDE4B	5142	broad.mit.edu	37	1	66827468	66827468	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr1:66827468C>A	uc001dcn.2	+	10	1203	c.1012C>A	c.(1012-1014)CTG>ATG	p.L338M	PDE4B_uc009war.2_Missense_Mutation_p.L246M|PDE4B_uc001dco.2_Missense_Mutation_p.L338M|PDE4B_uc001dcp.2_Missense_Mutation_p.L323M|PDE4B_uc001dcq.2_Missense_Mutation_p.L166M|PDE4B_uc009was.2_Missense_Mutation_p.L105M	NM_001037341	NP_001032418	Q07343	PDE4B_HUMAN	phosphodiesterase 4B isoform 1	338					signal transduction	cytosol|insoluble fraction|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			ovary(2)|central_nervous_system(1)	3					Adenosine monophosphate(DB00131)|Amrinone(DB01427)|Caffeine(DB00201)|Cilostazol(DB01166)|Dyphylline(DB00651)|Enprofylline(DB00824)|Papaverine(DB01113)|Pentoxifylline(DB00806)|Theophylline(DB00277)	TGAAGATCACCTGGCCAAGGT	0.408		NA											4	72					0.00909568	0.00946974	1	0
LRRC7	57554	broad.mit.edu	37	1	70504158	70504158	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr1:70504158C>T	uc001dep.2	+	19	2567	c.2537C>T	c.(2536-2538)ACC>ATC	p.T846I	LRRC7_uc009wbg.2_Missense_Mutation_p.T130I|LRRC7_uc001deq.2_Missense_Mutation_p.T87I	NM_020794	NP_065845	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	846						centrosome|focal adhesion|nucleolus	protein binding			ovary(9)|breast(2)|central_nervous_system(2)|liver(1)	14						CAGAATTGGACCAGAACCCCT	0.488		NA											13	150					0	0	0	0
EXTL2	2135	broad.mit.edu	37	1	101339860	101339860	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr1:101339860C>A	uc001dtk.1	-	5	968	c.631G>T	c.(631-633)GTG>TTG	p.V211L	EXTL2_uc001dtl.1_Missense_Mutation_p.V211L|EXTL2_uc010ouk.1_Missense_Mutation_p.V198L|EXTL2_uc001dtm.1_Missense_Mutation_p.V210L	NM_001439	NP_001430	Q9UBQ6	EXTL2_HUMAN	exostoses-like 2	211	Lumenal (Potential).				N-acetylglucosamine metabolic process|UDP-N-acetylgalactosamine metabolic process	extracellular region|integral to membrane|intrinsic to endoplasmic reticulum membrane	alpha-1,4-N-acetylgalactosaminyltransferase activity|glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|metal ion binding			skin(1)	1		all_epithelial(167;2.48e-06)|all_lung(203;0.000414)|Lung NSC(277;0.000946)		Epithelial(280;0.0425)|all cancers(265;0.0628)|COAD - Colon adenocarcinoma(174;0.148)|Colorectal(144;0.167)|Lung(183;0.195)		CCAATCAGCACCATAGAGTAC	0.413		NA											10	94					2.18e-05	2.4e-05	1	0
DENND2D	79961	broad.mit.edu	37	1	111738609	111738609	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr1:111738609G>A	uc001eak.1	-	6	774	c.574C>T	c.(574-576)CGA>TGA	p.R192*	DENND2D_uc001eal.1_Nonsense_Mutation_p.R189*	NM_024901	NP_079177	Q9H6A0	DEN2D_HUMAN	DENN/MADD domain containing 2D	192	DENN.									ovary(1)	1		all_cancers(81;0.00198)|all_epithelial(167;0.000686)|all_lung(203;0.00318)|Lung NSC(277;0.00499)		Lung(183;0.0162)|Colorectal(144;0.069)|all cancers(265;0.0757)|LUSC - Lung squamous cell carcinoma(189;0.0845)|Epithelial(280;0.114)|COAD - Colon adenocarcinoma(174;0.14)		GCTGCCTCTCGGAGGCCCTGC	0.567		NA											11	113					0	0	0	0
UBAP2L	9898	broad.mit.edu	37	1	154227358	154227358	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr1:154227358C>T	uc001fep.3	+	16	2068	c.1901C>T	c.(1900-1902)TCT>TTT	p.S634F	UBAP2L_uc009wot.2_Missense_Mutation_p.S634F|UBAP2L_uc010pek.1_Missense_Mutation_p.S626F|UBAP2L_uc010pel.1_Missense_Mutation_p.S644F|UBAP2L_uc010pen.1_Missense_Mutation_p.S548F|UBAP2L_uc001feq.2_5'Flank|UBAP2L_uc001fer.2_5'Flank	NM_014847	NP_055662	Q14157	UBP2L_HUMAN	ubiquitin associated protein 2-like isoform a	634					binding of sperm to zona pellucida		protein binding			ovary(1)|central_nervous_system(1)	2	all_lung(78;1.09e-30)|Lung NSC(65;1.66e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			ACCACACAATCTGTTGAAGGT	0.398		NA											11	96					0	0	0	0
MRPL24	79590	broad.mit.edu	37	1	156708205	156708205	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr1:156708205G>A	uc001fpw.1	-	3	348	c.209C>T	c.(208-210)GCC>GTC	p.A70V	MRPL24_uc001fpx.1_Missense_Mutation_p.A70V	NM_024540	NP_078816	Q96A35	RM24_HUMAN	mitochondrial ribosomal protein L24 precursor	70	KOW.				translation	mitochondrion|ribosome	structural constituent of ribosome				0	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CTGCTTCCCGGCATCCTTGCC	0.567		NA											7	460					0	0	0	0
CEP350	9857	broad.mit.edu	37	1	180064865	180064865	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr1:180064865C>G	uc001gnt.2	+	35	9102	c.8719C>G	c.(8719-8721)CAA>GAA	p.Q2907E	CEP350_uc009wxl.2_Missense_Mutation_p.Q2906E|CEP350_uc001gnv.2_Missense_Mutation_p.Q1042E|CEP350_uc001gnw.1_Missense_Mutation_p.Q664E|CEP350_uc001gnx.1_Missense_Mutation_p.Q664E	NM_014810	NP_055625	Q5VT06	CE350_HUMAN	centrosome-associated protein 350	2907						centrosome|nucleus|spindle				ovary(4)	4						AAGAGTAACCCAACAACCATG	0.383		NA											8	89					0	0	0	0
KIAA1614	57710	broad.mit.edu	37	1	180885439	180885439	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr1:180885439C>A	uc001gok.2	+	2	267	c.200C>A	c.(199-201)CCC>CAC	p.P67H		NM_020950	NP_066001	Q5VZ46	K1614_HUMAN	hypothetical protein LOC57710	67										ovary(3)|skin(1)	4						CTGATGGCCCCCCAGCCTCCC	0.602		NA											8	68					0.000157383	0.000170883	1	0
NCF2	4688	broad.mit.edu	37	1	183532571	183532571	+	Silent	SNP	C	C	T			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr1:183532571C>T	uc001gqj.3	-	12	1451	c.1176G>A	c.(1174-1176)CTG>CTA	p.L392L	NCF2_uc010pod.1_Silent_p.L347L|NCF2_uc010poe.1_Silent_p.L311L|NCF2_uc001gqk.3_Silent_p.L392L	NM_000433	NP_000424	P19878	NCF2_HUMAN	neutrophil cytosolic factor 2	392	OPR.				cellular defense response|innate immune response|respiratory burst|superoxide anion generation	NADPH oxidase complex|nucleolus	electron carrier activity|protein C-terminus binding			ovary(3)	3						GAGCTCACCTCAGCTTAGTGT	0.557		NA											20	339					0	0	0	0
ADORA1	134	broad.mit.edu	37	1	203134708	203134708	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr1:203134708G>T	uc001gze.1	+	4	1094	c.661G>T	c.(661-663)GAC>TAC	p.D221Y	FMOD_uc010pqi.1_Intron|ADORA1_uc001gzf.1_Missense_Mutation_p.D221Y|ADORA1_uc010pqg.1_Missense_Mutation_p.D153Y|ADORA1_uc009xak.1_Missense_Mutation_p.R146L|ADORA1_uc010pqh.1_Missense_Mutation_p.D254Y	NM_000674	NP_000665	P30542	AA1R_HUMAN	adenosine A1 receptor	221	Cytoplasmic (Potential).				induction of apoptosis by extracellular signals|inflammatory response|nervous system development|phagocytosis	integral to plasma membrane				large_intestine(1)	1					Aminophylline(DB01223)|Caffeine(DB00201)|Defibrotide(DB04932)|Gabapentin(DB00996)|Imipramine(DB00458)|Pegademase bovine(DB00061)|Theophylline(DB00277)	CTCCTCCGGCGACCCGCAGAA	0.582		NA											17	157					2.38e-13	2.7e-13	1	0
FMOD	2331	broad.mit.edu	37	1	203311480	203311480	+	Silent	SNP	G	G	A	rs141336017	byFrequency	TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr1:203311480G>A	uc001gzr.2	-	3	1258	c.1122C>T	c.(1120-1122)ATC>ATT	p.I374I	FMOD_uc010pqi.1_RNA	NM_002023	NP_002014	Q06828	FMOD_HUMAN	fibromodulin precursor	374					transforming growth factor beta receptor complex assembly	extracellular space|proteinaceous extracellular matrix				ovary(2)|breast(1)	3			BRCA - Breast invasive adenocarcinoma(75;0.171)			CTCAGATCTCGATGAGGCTGG	0.637		NA									OREG0014119	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	11	83					0	0	0	0
HHIPL2	79802	broad.mit.edu	37	1	222717278	222717278	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr1:222717278C>T	uc001hnh.1	-	2	633	c.575G>A	c.(574-576)CGC>CAC	p.R192H		NM_024746	NP_079022	Q6UWX4	HIPL2_HUMAN	HHIP-like 2 precursor	192					carbohydrate metabolic process	extracellular region	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding			ovary(1)	1				GBM - Glioblastoma multiforme(131;0.0185)		GCCCAGGTGGCGGTTGAGATA	0.602		NA											10	117					0	0	0	0
RBM17	84991	broad.mit.edu	37	10	6139143	6139143	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr10:6139143C>T	uc001ijb.2	+	2	341	c.115C>T	c.(115-117)CAG>TAG	p.Q39*	RBM17_uc010qav.1_Nonsense_Mutation_p.Q39*	NM_032905	NP_116294	Q96I25	SPF45_HUMAN	RNA binding motif protein 17	39					mRNA processing|RNA splicing	spliceosomal complex	nucleotide binding|protein binding|RNA binding				0						AGCTCTCACTCAGGCAAAGGT	0.493		NA											12	112					0	0	0	0
ANKRD26	22852	broad.mit.edu	37	10	27323939	27323939	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr10:27323939C>T	uc001ith.2	-	24	3609	c.3437G>A	c.(3436-3438)CGA>CAA	p.R1146Q	ANKRD26_uc001itg.2_Missense_Mutation_p.R833Q|ANKRD26_uc009xku.1_Missense_Mutation_p.R1147Q	NM_014915	NP_055730	Q9UPS8	ANR26_HUMAN	ankyrin repeat domain 26	1146	Potential.					centrosome				large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)|skin(1)	4						CAGTTGTTGTCGAAGCAACAT	0.368		NA											29	311					0	0	0	0
BICC1	80114	broad.mit.edu	37	10	60558291	60558291	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr10:60558291C>T	uc001jki.1	+	11	1499	c.1499C>T	c.(1498-1500)CCC>CTC	p.P500L	BICC1_uc001jkj.1_Missense_Mutation_p.P141L	NM_001080512	NP_001073981	Q9H694	BICC1_HUMAN	bicaudal C homolog 1	500					multicellular organismal development		RNA binding			ovary(2)|lung(1)|skin(1)	4						TTATGGGCACCCCCACTTGCT	0.403		NA											14	183					0	0	0	0
HK1	3098	broad.mit.edu	37	10	71142518	71142518	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr10:71142518C>T	uc001jpl.3	+	10	1642	c.1541C>T	c.(1540-1542)TCC>TTC	p.S514F	HK1_uc001jpg.3_Missense_Mutation_p.S502F|HK1_uc001jph.3_Missense_Mutation_p.S518F|HK1_uc001jpi.3_Missense_Mutation_p.S518F|HK1_uc001jpj.3_Missense_Mutation_p.S549F|HK1_uc001jpk.3_Missense_Mutation_p.S513F|HK1_uc009xqd.2_Missense_Mutation_p.S392F	NM_000188	NP_000179	P19367	HXK1_HUMAN	hexokinase 1 isoform HKI	514	Catalytic.				glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane|nucleus	ATP binding|glucokinase activity			ovary(1)	1						ATGCTGCCCTCCTTCGTCCGG	0.632		NA											3	28					0	0	0	0
FAM22A	728118	broad.mit.edu	37	10	88988216	88988216	+	Silent	SNP	C	C	T			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr10:88988216C>T	uc001kek.2	+	2	962	c.579C>T	c.(577-579)TGC>TGT	p.C193C	LOC728190_uc009xtc.2_Intron|LOC728190_uc009xtd.2_Intron	NM_001099338	NP_001092808	Q8IVF1	FA22A_HUMAN	hypothetical protein LOC728118	193											0						AGGATGGCTGCGGCCCGAGTG	0.657		NA											17	171					0	0	0	0
ERLIN1	10613	broad.mit.edu	37	10	101914691	101914691	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr10:101914691C>T	uc001kqn.3	-	10	1102	c.751G>A	c.(751-753)GCA>ACA	p.A251T	ERLIN1_uc001kqm.3_Missense_Mutation_p.A16T|ERLIN1_uc001kqo.3_Missense_Mutation_p.A251T|ERLIN1_uc010qpm.1_Missense_Mutation_p.A167T	NM_006459	NP_006450	O75477	ERLN1_HUMAN	ER lipid raft associated 1	249	Lumenal (Potential).				ER-associated protein catabolic process	endoplasmic reticulum membrane|integral to membrane	protein binding				0		Colorectal(252;0.234)		Epithelial(162;3.85e-10)|all cancers(201;3.25e-08)		GCCAGGAATGCAGCATCTAGC	0.453		NA											6	53					0	0	0	0
SEC23IP	11196	broad.mit.edu	37	10	121658241	121658241	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr10:121658241C>G	uc001leu.1	+	2	538	c.466C>G	c.(466-468)CTG>GTG	p.L156V	SEC23IP_uc010qtc.1_Intron	NM_007190	NP_009121	Q9Y6Y8	S23IP_HUMAN	Sec23-interacting protein p125	156	Interaction with SEC23A.|Pro-rich.				Golgi organization|intracellular protein transport	endoplasmic reticulum|ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment	metal ion binding			ovary(3)	3		Lung NSC(174;0.109)|all_lung(145;0.142)|all_neural(114;0.234)		all cancers(201;0.00515)		AAATTCTTATCTGCCTTCTCA	0.478		NA											21	208					0	0	0	0
PPP2R2D	55844	broad.mit.edu	37	10	133753685	133753685	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr10:133753685C>G	uc001lks.2	+	2	493	c.250C>G	c.(250-252)CTA>GTA	p.L84V	PPP2R2D_uc001lkr.2_5'UTR|PPP2R2D_uc001lkt.2_5'UTR|PPP2R2D_uc009yay.2_5'UTR	NM_018461	NP_060931	Q66LE6	2ABD_HUMAN	protein phosphatase 2, regulatory subunit B,	117	WD 2.				cell division|exit from mitosis|mitosis|signal transduction	cytoplasm|protein phosphatase type 2A complex	protein phosphatase type 2A regulator activity			skin(1)	1		all_cancers(35;2.16e-12)|all_epithelial(44;2.77e-09)|Lung NSC(174;0.00237)|all_lung(145;0.00354)|Colorectal(31;0.0124)|Breast(234;0.023)|all_neural(114;0.0299)|Melanoma(40;0.123)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;7.86e-05)|Epithelial(32;8.82e-05)|all cancers(32;0.000106)|BRCA - Breast invasive adenocarcinoma(275;0.21)		TGCTCATTTTCTACTGTCTAC	0.299		NA											6	36					0	0	0	0
TRPM5	29850	broad.mit.edu	37	11	2434717	2434717	+	Silent	SNP	G	G	A			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr11:2434717G>A	uc001lwm.3	-	13	2001	c.1992C>T	c.(1990-1992)CTC>CTT	p.L664L	TRPM5_uc010qxl.1_Silent_p.L664L|TRPM5_uc009ydn.2_Silent_p.L666L	NM_014555	NP_055370	Q9NZQ8	TRPM5_HUMAN	transient receptor potential cation channel,	664	Helical; (Potential).					integral to membrane|plasma membrane	receptor activity|voltage-gated ion channel activity			ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	4		Medulloblastoma(188;0.0049)|Breast(177;0.00586)|all_epithelial(84;0.0075)|Ovarian(85;0.0256)|all_neural(188;0.0311)		BRCA - Breast invasive adenocarcinoma(625;0.00147)|LUSC - Lung squamous cell carcinoma(625;0.191)		TGAAGGTGATGAGGTTGGTAT	0.682		NA											5	17					0	0	0	0
SWAP70	23075	broad.mit.edu	37	11	9750966	9750966	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr11:9750966C>T	uc001mhw.2	+	6	965	c.866C>T	c.(865-867)TCA>TTA	p.S289L	SWAP70_uc001mhv.2_Missense_Mutation_p.S289L|SWAP70_uc001mhx.2_Missense_Mutation_p.S231L	NM_015055	NP_055870	Q9UH65	SWP70_HUMAN	SWAP-70 protein	289	PH.					cytoplasm|lamellipodium|nucleus|plasma membrane	calcium ion binding|DNA binding			ovary(2)|central_nervous_system(1)	3				all cancers(16;1.21e-10)|Epithelial(150;2.81e-09)|BRCA - Breast invasive adenocarcinoma(625;0.00649)		ATCAGTGCTTCAGATAAGAAG	0.299		NA											7	75					0	0	0	0
OR5J2	282775	broad.mit.edu	37	11	55944190	55944190	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr11:55944190G>A	uc010rjb.1	+	1	97	c.97G>A	c.(97-99)GTG>ATG	p.V33M		NM_001005492	NP_001005492	Q8NH18	OR5J2_HUMAN	olfactory receptor, family 5, subfamily J,	33	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|large_intestine(1)|breast(1)|pancreas(1)	4	Esophageal squamous(21;0.00693)					GGTGTTCCTGGTGATTTACGC	0.403		NA											64	284					0	0	0	0
GIF	2694	broad.mit.edu	37	11	59603454	59603454	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr11:59603454G>T	uc001noi.2	-	7	948	c.900C>A	c.(898-900)AGC>AGA	p.S300R		NM_005142	NP_005133	P27352	IF_HUMAN	gastric intrinsic factor (vitamin B synthesis)	300					cobalamin metabolic process|cobalamin transport|cobalt ion transport	apical plasma membrane|endosome|extracellular space|microvillus	cobalamin binding			ovary(1)|liver(1)	2						GGCCAGGGTTGCTGGGTAGAG	0.473		NA											23	245					7.08e-08	7.88e-08	1	0
TUT1	64852	broad.mit.edu	37	11	62358968	62358968	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr11:62358968C>T	uc001nto.2	-	1	142	c.104G>A	c.(103-105)AGG>AAG	p.R35K		NM_022830	NP_073741	Q9H6E5	STPAP_HUMAN	terminal uridylyl transferase 1, U6	Error:Variant_position_missing_in_Q9H6E5_after_alignment					mRNA cleavage|mRNA polyadenylation|snRNA processing	nuclear speck|nucleolus	ATP binding|enzyme binding|mRNA 3'-UTR binding|polynucleotide adenylyltransferase activity|RNA uridylyltransferase activity|zinc ion binding			central_nervous_system(1)|skin(1)	2						AGCGACTCTCCTGTACCGACA	0.602		NA											11	29					0	0	0	0
UCP2	7351	broad.mit.edu	37	11	73689376	73689376	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr11:73689376C>A	uc001oup.1	-	3	428	c.48G>T	c.(46-48)AAG>AAT	p.K16N	UCP2_uc001ouq.1_Missense_Mutation_p.K16N	NM_003355	NP_003346	P55851	UCP2_HUMAN	uncoupling protein 2	16	Helical; Name=1; (Potential).|Solcar 1.				proton transport|respiratory electron transport chain	integral to membrane|mitochondrial inner membrane	binding				0	Breast(11;0.000112)					CCCCAAGAAACTTCACAGTGG	0.547		NA											19	63					1.96e-10	2.21e-10	1	0
GRIN2B	2904	broad.mit.edu	37	12	13906692	13906692	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr12:13906692A>G	uc001rbt.2	-	3	748	c.569T>C	c.(568-570)ATT>ACT	p.I190T		NM_000834	NP_000825	Q13224	NMDE2_HUMAN	N-methyl-D-aspartate receptor subunit 2B	190	Extracellular (Potential).				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			central_nervous_system(4)|ovary(3)|skin(3)|lung(2)	12					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	GCTATTCTCAATGGTGCTGCG	0.463		NA											39	125					0	0	0	0
KIF21A	55605	broad.mit.edu	37	12	39696848	39696848	+	Silent	SNP	G	G	A			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr12:39696848G>A	uc001rly.2	-	36	4796	c.4650C>T	c.(4648-4650)ACC>ACT	p.T1550T	KIF21A_uc001rlv.2_Silent_p.T495T|KIF21A_uc001rlw.2_Silent_p.T820T|KIF21A_uc001rlx.2_Silent_p.T1537T|KIF21A_uc001rlz.2_Silent_p.T1497T|KIF21A_uc010skl.1_Silent_p.T1513T|KIF21A_uc001rlt.2_Silent_p.T170T|KIF21A_uc001rlu.2_Silent_p.T170T	NM_017641	NP_060111	Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	1550	WD 5.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(4)|pancreas(1)|lung(1)|skin(1)	7		Lung NSC(34;0.179)|all_lung(34;0.213)				CCCCTTGAATGGTTAGTGCTT	0.403		NA											5	172					0	0	0	0
GPR84	53831	broad.mit.edu	37	12	54757125	54757125	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr12:54757125C>G	uc001sfu.2	-	2	601	c.511G>C	c.(511-513)GAC>CAC	p.D171H		NM_020370	NP_065103	Q9NQS5	GPR84_HUMAN	G protein-coupled receptor 84	171	Extracellular (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(2)	2						CGGATGCGGTCAAAGCTGCAG	0.572		NA											3	80					0	0	0	0
RBMS2	5939	broad.mit.edu	37	12	56975652	56975652	+	Silent	SNP	T	T	C			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr12:56975652T>C	uc001sln.2	+	8	967	c.768T>C	c.(766-768)GCT>GCC	p.A256A	RBMS2_uc010sqp.1_Silent_p.A111A|RBMS2_uc010sqq.1_Silent_p.A131A|RBMS2_uc009zou.2_Silent_p.A13A	NM_002898	NP_002889	Q15434	RBMS2_HUMAN	RNA binding motif, single stranded interacting	256					RNA processing	nucleus	nucleotide binding|RNA binding				0						CCACCACAGCTCTTCAGAATG	0.433		NA											51	264					0	0	0	0
SHMT2	6472	broad.mit.edu	37	12	57626045	57626045	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr12:57626045C>G	uc001snf.1	+	5	574	c.564C>G	c.(562-564)ATC>ATG	p.I188M	SHMT2_uc001sng.1_Missense_Mutation_p.I84M|SHMT2_uc001snh.1_Missense_Mutation_p.I27M|SHMT2_uc009zpk.1_Missense_Mutation_p.I188M|SHMT2_uc001sni.1_Missense_Mutation_p.I167M|SHMT2_uc010srg.1_Missense_Mutation_p.I197M|SHMT2_uc001snj.1_Missense_Mutation_p.S83C|SHMT2_uc010srh.1_Missense_Mutation_p.I167M|SHMT2_uc001snk.1_Missense_Mutation_p.S83C|SHMT2_uc010sri.1_Missense_Mutation_p.I167M|SHMT2_uc001snl.2_Missense_Mutation_p.S83C|SHMT2_uc010srj.1_5'Flank	NM_005412	NP_005403	P34897	GLYM_HUMAN	serine hydroxymethyltransferase 2	188						microtubule cytoskeleton|mitochondrial nucleoid	glycine hydroxymethyltransferase activity|methyltransferase activity			ovary(1)|central_nervous_system(1)	2					Glycine(DB00145)|Pyridoxal Phosphate(DB00114)|Tetrahydrofolic acid(DB00116)	CCACGTCCATCTTCTTCGAGT	0.592		NA											38	152					0	0	0	0
GLI1	2735	broad.mit.edu	37	12	57858619	57858619	+	Silent	SNP	C	C	T			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr12:57858619C>T	uc001snx.2	+	4	435	c.357C>T	c.(355-357)GGC>GGT	p.G119G	GLI1_uc009zpp.2_RNA|GLI1_uc009zpq.2_5'UTR|GLI1_uc009zpr.1_RNA	NM_005269	NP_005260	P08151	GLI1_HUMAN	GLI family zinc finger 1 isoform 1	119					epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	transcription regulatory region DNA binding|zinc ion binding			skin(4)|ovary(4)|breast(3)|central_nervous_system(1)|urinary_tract(1)|kidney(1)|pancreas(1)	15			GBM - Glioblastoma multiforme(3;3.99e-32)			CTCCAGGAGGCTCCTACGGTC	0.587		NA											22	123					0	0	0	0
TMTC2	160335	broad.mit.edu	37	12	83359345	83359345	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr12:83359345A>G	uc001szt.2	+	6	2123	c.1691A>G	c.(1690-1692)TAT>TGT	p.Y564C	TMTC2_uc001szr.1_Missense_Mutation_p.Y564C|TMTC2_uc001szs.1_Missense_Mutation_p.Y564C|TMTC2_uc010suk.1_Missense_Mutation_p.Y319C	NM_152588	NP_689801	Q8N394	TMTC2_HUMAN	transmembrane and tetratricopeptide repeat	564	TPR 4.					endoplasmic reticulum|integral to membrane	binding			ovary(2)	2						TCAGCTGCATATTTAAATACC	0.368		NA											14	108					0	0	0	0
RASSF9	9182	broad.mit.edu	37	12	86198832	86198832	+	Missense_Mutation	SNP	T	T	G			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr12:86198832T>G	uc001taf.1	-	2	1295	c.956A>C	c.(955-957)AAG>ACG	p.K319T		NM_005447	NP_005438	O75901	RASF9_HUMAN	Ras association (RalGDS/AF-6) domain family	319					endosome transport|protein targeting|signal transduction	cytosol|endosome|trans-Golgi network transport vesicle membrane	protein binding|transporter activity			ovary(1)	1						CAAATCACACTTAACACTCTC	0.368		NA											39	363					0	0	0	0
C12orf48	55010	broad.mit.edu	37	12	102572458	102572458	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr12:102572458C>G	uc001tjf.2	+	8	1206	c.1094C>G	c.(1093-1095)GCT>GGT	p.A365G	C12orf48_uc001tjg.2_Missense_Mutation_p.A284G|C12orf48_uc010swa.1_Missense_Mutation_p.A442G|C12orf48_uc001tjh.2_Missense_Mutation_p.A284G|C12orf48_uc010swb.1_Intron|C12orf48_uc009zuc.2_Intron|C12orf48_uc001tjj.2_Missense_Mutation_p.A80G|C12orf48_uc001tjk.2_Intron|C12orf48_uc009zud.2_Intron	NM_017915	NP_060385	Q9NWS1	PR1BP_HUMAN	hypothetical protein LOC55010	365					response to DNA damage stimulus	cytoplasm|nucleus	DNA binding				0						GAAGAAGCAGCTAATGCTCCT	0.378		NA											11	79					0	0	0	0
SKA3	221150	broad.mit.edu	37	13	21742409	21742409	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr13:21742409C>T	uc001unt.2	-	4	555	c.461G>A	c.(460-462)CGT>CAT	p.R154H	SKA3_uc001unv.2_Missense_Mutation_p.R72H|SKA3_uc001unu.2_Missense_Mutation_p.R154H	NM_145061	NP_659498	Q8IX90	SKA3_HUMAN	SKA3	154					cell division|chromosome segregation|mitosis|regulation of microtubule polymerization or depolymerization	condensed chromosome outer kinetochore|cytoplasm|spindle microtubule	protein binding				0						TTGTGGACTACGTGGAGACTT	0.433		NA											21	167					0	0	0	0
CDADC1	81602	broad.mit.edu	37	13	49833572	49833572	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr13:49833572C>A	uc001vcu.2	+	4	419	c.343C>A	c.(343-345)CTT>ATT	p.L115I	CDADC1_uc001vcs.1_RNA|CDADC1_uc001vct.1_Intron|CDADC1_uc010tgk.1_Intron|CDADC1_uc001vcv.2_Intron	NM_030911	NP_112173	Q9BWV3	CDAC1_HUMAN	cytidine and dCMP deaminase domain containing 1	115							hydrolase activity|zinc ion binding			upper_aerodigestive_tract(1)	1		Lung NSC(96;0.000705)|Breast(56;0.0011)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;1.06e-08)|COAD - Colon adenocarcinoma(199;0.216)		GCAGATTGCTCTTATTAAACA	0.368		NA											47	107					6.21e-16	7.1e-16	1	0
CTSG	1511	broad.mit.edu	37	14	25043576	25043576	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr14:25043576C>T	uc001wpq.2	-	4	506	c.469G>A	c.(469-471)GAT>AAT	p.D157N		NM_001911	NP_001902	P08311	CATG_HUMAN	cathepsin G preproprotein	157	Peptidase S1.				immune response|proteolysis	cell surface|extracellular space|plasma membrane|stored secretory granule	heparin binding|serine-type endopeptidase activity			ovary(2)	2				GBM - Glioblastoma multiforme(265;0.0269)		CGGAGTGTATCTGTTCCCCTC	0.637		NA											20	139					0	0	0	0
NPAS3	64067	broad.mit.edu	37	14	34145431	34145431	+	Silent	SNP	C	C	G			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr14:34145431C>G	uc001wru.2	+	6	637	c.573C>G	c.(571-573)GGC>GGG	p.G191G	NPAS3_uc001wrs.2_Silent_p.G178G|NPAS3_uc001wrt.2_Silent_p.G159G|NPAS3_uc001wrv.2_Silent_p.G161G|NPAS3_uc001wrw.2_Silent_p.G89G	NM_173159	NP_071406	Q8IXF0	NPAS3_HUMAN	neuronal PAS domain protein 3 isoform 3	191	PAS 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			ovary(1)|skin(1)	2	Breast(36;0.0102)|Hepatocellular(127;0.133)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968)	GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115)		AGCTGACAGGCAGCAGTGTCT	0.537		NA											35	167					0	0	0	0
WDHD1	11169	broad.mit.edu	37	14	55457985	55457985	+	Silent	SNP	C	C	T			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr14:55457985C>T	uc001xbm.1	-	12	1365	c.1287G>A	c.(1285-1287)CGG>CGA	p.R429R	WDHD1_uc010aom.1_Missense_Mutation_p.G8D|WDHD1_uc001xbn.1_Silent_p.R306R	NM_007086	NP_009017	O75717	WDHD1_HUMAN	WD repeat and HMG-box DNA binding protein 1	429						cytoplasm|nucleoplasm	DNA binding			skin(1)	1						ATGGCTTTTGCCGGGGAGTTG	0.448		NA											4	108					0	0	0	0
ARID4A	5926	broad.mit.edu	37	14	58831004	58831004	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr14:58831004G>C	uc001xdp.2	+	20	2451	c.2197G>C	c.(2197-2199)GAT>CAT	p.D733H	ARID4A_uc001xdo.2_Missense_Mutation_p.D733H|ARID4A_uc001xdq.2_Missense_Mutation_p.D733H|ARID4A_uc010apg.1_Missense_Mutation_p.D411H	NM_002892	NP_002883	P29374	ARI4A_HUMAN	retinoblastoma-binding protein 1 isoform I	733					negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	transcriptional repressor complex	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(3)|skin(2)|lung(1)	6						TGATAAGCTAGATGAAGAAAA	0.289		NA											15	140					0	0	0	0
FLRT2	23768	broad.mit.edu	37	14	86089701	86089701	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr14:86089701G>A	uc001xvr.2	+	2	2610	c.1843G>A	c.(1843-1845)GAT>AAT	p.D615N	FLRT2_uc010atd.2_Missense_Mutation_p.D615N	NM_013231	NP_037363	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	615	Cytoplasmic (Potential).				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			ovary(3)|haematopoietic_and_lymphoid_tissue(1)	4				BRCA - Breast invasive adenocarcinoma(234;0.0319)		CTTAAATAACGATCAACTCCT	0.473		NA											89	306					0	0	0	0
RYR3	6263	broad.mit.edu	37	15	33936544	33936544	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr15:33936544C>G	uc001zhi.2	+	28	3659	c.3589C>G	c.(3589-3591)CAG>GAG	p.Q1197E	RYR3_uc010bar.2_Missense_Mutation_p.Q1197E	NM_001036	NP_001027	Q15413	RYR3_HUMAN	ryanodine receptor 3	1197	B30.2/SPRY 2.|Cytoplasmic (By similarity).|4 X approximate repeats.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(5)|central_nervous_system(4)|lung(1)	10		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		GGGTCTATCTCAGATCGGCCG	0.527		NA											9	32					0	0	0	0
MAPKBP1	23005	broad.mit.edu	37	15	42116702	42116702	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr15:42116702C>T	uc001zok.3	+	31	4538	c.4252C>T	c.(4252-4254)CAG>TAG	p.Q1418*	MAPKBP1_uc001zoj.3_Nonsense_Mutation_p.Q1412*|MAPKBP1_uc010bcj.2_Nonsense_Mutation_p.Q919*|MAPKBP1_uc010bci.2_Nonsense_Mutation_p.Q1135*|MAPKBP1_uc010udb.1_Nonsense_Mutation_p.Q1251*|MAPKBP1_uc010bck.2_Nonsense_Mutation_p.Q629*|MAPKBP1_uc010bcl.2_Nonsense_Mutation_p.Q917*	NM_001128608	NP_001122080	O60336	MABP1_HUMAN	mitogen-activated protein kinase binding protein	1418										central_nervous_system(5)|breast(2)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1)	10		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)		GAGCCTGGAGCAGTGTGAGCA	0.652		NA											5	22					0	0	0	0
VPS39	23339	broad.mit.edu	37	15	42457994	42457994	+	Silent	SNP	C	C	T			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr15:42457994C>T	uc001zpd.2	-	18	1885	c.1734G>A	c.(1732-1734)CCG>CCA	p.P578P	VPS39_uc001zpc.2_Silent_p.P567P|VPS39_uc001zpb.2_5'UTR	NM_015289	NP_056104	Q96JC1	VPS39_HUMAN	vacuolar protein sorting 39	578					protein transport	HOPS complex|late endosome membrane|lysosomal membrane	small GTPase regulator activity			ovary(1)|pancreas(1)|skin(1)	3		all_cancers(109;6.78e-16)|all_epithelial(112;1.81e-14)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;3.05e-06)		ACTCCACTTCCGGGAGATCTT	0.473		NA											14	140					0	0	0	0
ALPK3	57538	broad.mit.edu	37	15	85384080	85384080	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr15:85384080G>T	uc002ble.2	+	5	2343	c.2176G>T	c.(2176-2178)GTG>TTG	p.V726L		NM_020778	NP_065829	Q96L96	ALPK3_HUMAN	alpha-kinase 3	726					heart development	nucleus	ATP binding|protein serine/threonine kinase activity			stomach(3)|ovary(3)|lung(2)|skin(2)|central_nervous_system(1)|breast(1)	12			BRCA - Breast invasive adenocarcinoma(143;0.0587)			CTCTGTGCAGGTGCCGACGCC	0.637		NA											18	52					1.03e-11	1.17e-11	1	0
BLM	641	broad.mit.edu	37	15	91347415	91347415	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr15:91347415G>C	uc002bpr.2	+	19	3674	c.3577G>C	c.(3577-3579)GAA>CAA	p.E1193Q	BLM_uc010uqh.1_Missense_Mutation_p.E1193Q|BLM_uc010uqi.1_Missense_Mutation_p.E818Q|BLM_uc010bnx.2_Intron|BLM_uc002bpt.2_Missense_Mutation_p.E168Q	NM_000057	NP_000048	P54132	BLM_HUMAN	Bloom syndrome protein	1193					double-strand break repair via homologous recombination|G2 phase of mitotic cell cycle|G2/M transition DNA damage checkpoint|negative regulation of cell division|positive regulation of transcription, DNA-dependent|protein oligomerization|regulation of cyclin-dependent protein kinase activity|replication fork processing|replication fork protection|response to X-ray	cytoplasm|lateral element|nuclear matrix|nucleolus|PML body	ATP binding|bubble DNA binding|DNA strand annealing activity|four-way junction helicase activity|G-quadruplex DNA binding|p53 binding			ovary(3)|skin(2)|breast(1)	6	Lung NSC(78;0.0875)|all_lung(78;0.109)		Lung(145;0.189)			TATGGAAACAGAAAATTCCAG	0.373		NA	Mis|N|F			leukemia|lymphoma|skin squamous cell |other cancers		Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents	Bloom_syndrome				7	85					0	0	0	0
MAN2A2	4122	broad.mit.edu	37	15	91453879	91453879	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr15:91453879G>A	uc010bnz.2	+	11	1841	c.1726G>A	c.(1726-1728)GCC>ACC	p.A576T	MAN2A2_uc010boa.2_Missense_Mutation_p.A618T|MAN2A2_uc002bqc.2_Missense_Mutation_p.A576T|MAN2A2_uc010uql.1_Missense_Mutation_p.A238T|MAN2A2_uc010uqm.1_Missense_Mutation_p.A155T|MAN2A2_uc010uqn.1_5'Flank	NM_006122	NP_006113	P49641	MA2A2_HUMAN	mannosidase, alpha, class 2A, member 2	576	Lumenal (Potential).				mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding			large_intestine(2)|ovary(1)	3	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			CACTGGCACGGCCAAGGAGGC	0.587		NA											4	131					0	0	0	0
IGF1R	3480	broad.mit.edu	37	15	99500474	99500474	+	Missense_Mutation	SNP	G	G	A	rs45475702		TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr15:99500474G>A	uc002bul.2	+	21	3957	c.3907G>A	c.(3907-3909)GTC>ATC	p.V1303I	IGF1R_uc010bon.2_Missense_Mutation_p.V1302I	NM_000875	NP_000866	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor precursor	1303	Cytoplasmic (Potential).				anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|protein autophosphorylation|protein tetramerization	microsome	ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding			lung(3)|kidney(3)|ovary(1)|central_nervous_system(1)	8	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277)	CATGGAGAGCGTCCCCCTGGA	0.667		NA											11	54					0	0	0	0
TMEM8A	58986	broad.mit.edu	37	16	426741	426741	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr16:426741C>A	uc002cgu.3	-	5	836	c.707G>T	c.(706-708)GGC>GTC	p.G236V	TMEM8A_uc002cgv.3_Missense_Mutation_p.G43V	NM_021259	NP_067082	Q9HCN3	TMM8A_HUMAN	transmembrane protein 8 (five membrane-spanning	236	Extracellular (Potential).				cell adhesion	integral to plasma membrane				central_nervous_system(2)|pancreas(1)	3						CACGGGGCAGCCCAGGCTCCC	0.682		NA											13	29					3.27e-08	3.65e-08	1	0
CREBBP	1387	broad.mit.edu	37	16	3820844	3820844	+	Silent	SNP	G	G	C			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr16:3820844G>C	uc002cvv.2	-	14	2811	c.2607C>G	c.(2605-2607)CTC>CTG	p.L869L	CREBBP_uc002cvw.2_Silent_p.L831L	NM_004380	NP_004371	Q92793	CBP_HUMAN	CREB binding protein isoform a	869					cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(97)|ovary(14)|lung(6)|skin(6)|breast(2)|NS(1)|pancreas(1)	127		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		TCGTGTGCTGGAGAGATGGCA	0.642		NA	T|N|F|Mis|O	MLL|MORF|RUNXBP2	ALL|AML|DLBCL|B-NHL 		Rubinstein-Taybi syndrome		Rubinstein-Taybi_syndrome				15	85					0	0	0	0
COG7	91949	broad.mit.edu	37	16	23428348	23428348	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr16:23428348C>G	uc002dlo.2	-	9	1420	c.1232G>C	c.(1231-1233)AGA>ACA	p.R411T		NM_153603	NP_705831	P83436	COG7_HUMAN	component of oligomeric golgi complex 7	411					intracellular protein transport|protein glycosylation|protein localization in Golgi apparatus|protein stabilization|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|Golgi transport complex	protein binding				0				GBM - Glioblastoma multiforme(48;0.0401)		ATTGGTGAATCTGACGCATCT	0.582		NA											7	109					0	0	0	0
KIFC3	3801	broad.mit.edu	37	16	57829031	57829031	+	Silent	SNP	G	G	C			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr16:57829031G>C	uc002emp.2	-	3	392	c.195C>G	c.(193-195)GTC>GTG	p.V65V	KIFC3_uc010cdf.2_5'UTR|KIFC3_uc002emo.3_5'UTR|KIFC3_uc010vhy.1_5'UTR|KIFC3_uc002emq.2_Silent_p.V65V|KIFC3_uc010vhz.1_Silent_p.V87V|KIFC3_uc002emr.1_Intron|KIFC3_uc010cdg.1_Intron	NM_005550	NP_005541	Q9BVG8	KIFC3_HUMAN	kinesin family member C3 isoform 1	65					epithelial cell-cell adhesion|microtubule-based movement|visual perception|zonula adherens maintenance	centrosome|cytoplasmic vesicle membrane|kinesin complex|microtubule|zonula adherens	ATP binding|microtubule motor activity			central_nervous_system(2)|ovary(1)	3		all_neural(199;0.224)				CGTCACCGCAGACTGGGGTAT	0.647		NA											6	53					0	0	0	0
HYDIN	54768	broad.mit.edu	37	16	70841774	70841774	+	Silent	SNP	C	C	T			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr16:70841774C>T	uc002ezr.2	-	86	15200	c.15072G>A	c.(15070-15072)AAG>AAA	p.K5024K	HYDIN_uc010cfy.2_RNA	NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	hydrocephalus inducing isoform a	5025										ovary(1)|skin(1)	2		Ovarian(137;0.0654)				GACCTTGGGGCTTGGGAGGCA	0.542		NA											7	115					0	0	0	0
MBTPS1	8720	broad.mit.edu	37	16	84093017	84093017	+	Silent	SNP	C	C	T			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr16:84093017C>T	uc002fhi.2	-	21	3223	c.2721G>A	c.(2719-2721)CGG>CGA	p.R907R	MBTPS1_uc002fhh.2_Silent_p.R411R	NM_003791	NP_003782	Q14703	MBTP1_HUMAN	membrane-bound transcription factor site-1	907	Lumenal (Potential).				cholesterol metabolic process|proteolysis	endoplasmic reticulum lumen|endoplasmic reticulum membrane|Golgi membrane|integral to membrane	serine-type endopeptidase activity			ovary(2)	2						CCTTGGAGTACCGATGAAGAT	0.468		NA											3	52					0	0	0	0
TSR1	55720	broad.mit.edu	37	17	2237843	2237843	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr17:2237843T>C	uc002fuj.2	-	5	1861	c.904A>G	c.(904-906)ATA>GTA	p.I302V	SGSM2_uc002fum.3_5'Flank|SGSM2_uc010vqw.1_5'Flank|SGSM2_uc002fun.3_5'Flank	NM_018128	NP_060598	Q2NL82	TSR1_HUMAN	TSR1, 20S rRNA accumulation	302					ribosome assembly	nucleolus	protein binding			ovary(1)	1						GGGGCATCTATCTGTTTCATC	0.443		NA											84	290					0	0	0	0
TP53	7157	broad.mit.edu	37	17	7578524	7578524	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr17:7578524G>A	uc002gim.2	-	5	600	c.406C>T	c.(406-408)CAA>TAA	p.Q136*	TP53_uc002gig.1_Nonsense_Mutation_p.Q136*|TP53_uc002gih.2_Nonsense_Mutation_p.Q136*|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Nonsense_Mutation_p.Q4*|TP53_uc010cng.1_Nonsense_Mutation_p.Q4*|TP53_uc002gii.1_Nonsense_Mutation_p.Q4*|TP53_uc010cnh.1_Nonsense_Mutation_p.Q136*|TP53_uc010cni.1_Nonsense_Mutation_p.Q136*|TP53_uc002gij.2_Nonsense_Mutation_p.Q136*|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Nonsense_Mutation_p.Q43*|TP53_uc002gio.2_Nonsense_Mutation_p.Q4*|TP53_uc010vug.1_Nonsense_Mutation_p.Q97*	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	136	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		Q -> H (in sporadic cancers; somatic mutation).|Q -> K (in a sporadic cancer; somatic mutation).|Q -> R (in sporadic cancers; somatic mutation).|Q -> P (in sporadic cancers; somatic mutation).|Q -> E (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.Q136*(28)|p.0?(7)|p.Q136H(5)|p.Q136Q(4)|p.Q136P(3)|p.Q136E(3)|p.N131fs*27(2)|p.Q136fs*13(2)|p.Q136R(2)|p.Q136fs*34(2)|p.V73fs*9(1)|p.F134_T140>S(1)|p.C135_T140delCQLAKT(1)|p.Q136K(1)|p.Y126fs*11(1)|p.C135_A138delCQLA(1)|p.K132_A138delKMFCQLA(1)|p.S127_Q136del10(1)|p.Q136_K139delQLAK(1)|p.C135_Q136insX(1)|p.C135_Q136insXXXXXX(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)		TTGGCCAGTTGGCAAAACATC	0.562		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)			16	58					0	0	0	0
TP53	7157	broad.mit.edu	37	17	7579591	7579591	+	Splice_Site	SNP	C	C	T			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr17:7579591C>T	uc002gim.2	-	4	291	c.97_splice	c.e4-1	p.S33_splice	TP53_uc002gig.1_Splice_Site_p.S33_splice|TP53_uc002gih.2_Splice_Site_p.S33_splice|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_5'Flank|TP53_uc010cng.1_5'Flank|TP53_uc002gii.1_5'Flank|TP53_uc010cnh.1_Splice_Site_p.S33_splice|TP53_uc010cni.1_Splice_Site_p.S33_splice|TP53_uc002gij.2_Splice_Site_p.S33_splice|TP53_uc010cnj.1_5'Flank|TP53_uc002gin.2_Intron|TP53_uc002gio.2_Intron|TP53_uc010vug.1_Splice_Site|TP53_uc010cnk.1_Intron	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a						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.0?(7)|p.?(5)|p.S33fs*10(1)|p.P13fs*18(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)		GCAAGGGGGACTGTAGATGGG	0.378		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)			21	224					0	0	0	0
ZNF286A	57335	broad.mit.edu	37	17	15611559	15611559	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr17:15611559C>T	uc010cot.2	+	5	728	c.332C>T	c.(331-333)TCA>TTA	p.S111L	ZNF286A_uc002goz.3_5'UTR|ZNF286A_uc010vwa.1_Missense_Mutation_p.S111L|ZNF286A_uc002gpa.2_Missense_Mutation_p.S111L	NM_001130842	NP_001124314	Q9HBT8	Z286A_HUMAN	zinc finger protein 286	111	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)	1				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)|READ - Rectum adenocarcinoma(1115;0.0222)|BRCA - Breast invasive adenocarcinoma(8;0.0781)		AGCAGCTATTCAGGTGAGCCA	0.423		NA											11	57					0	0	0	0
TP53I13	90313	broad.mit.edu	37	17	27896346	27896346	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr17:27896346G>A	uc002hee.2	+	3	190	c.152G>A	c.(151-153)AGA>AAA	p.R51K	ABHD15_uc002hed.1_5'Flank	NM_138349	NP_612358	Q8NBR0	P5I13_HUMAN	tumor protein p53 inducible protein 13	51	Extracellular (Potential).					cytoplasm|integral to membrane|plasma membrane					0				READ - Rectum adenocarcinoma(3;0.236)		GTGTCACCAAGAGTGACCTAC	0.632		NA											4	38					0	0	0	0
SSH2	85464	broad.mit.edu	37	17	27958830	27958830	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr17:27958830C>G	uc002heo.1	-	15	3301	c.3301G>C	c.(3301-3303)GAA>CAA	p.E1101Q	SSH2_uc010wbh.1_Missense_Mutation_p.E1128Q	NM_033389	NP_203747	Q76I76	SSH2_HUMAN	slingshot 2	1101					actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			skin(2)	2						CCTCTGTCTTCAGGGCTACTC	0.547		NA											12	116					0	0	0	0
SLFN13	146857	broad.mit.edu	37	17	33770858	33770858	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr17:33770858G>A	uc002hjk.1	-	2	1478	c.1148C>T	c.(1147-1149)TCT>TTT	p.S383F	SLFN13_uc010wch.1_Missense_Mutation_p.S383F|SLFN13_uc002hjl.2_Missense_Mutation_p.S383F|SLFN13_uc010ctt.2_Missense_Mutation_p.S65F|SLFN13_uc002hjm.2_Missense_Mutation_p.S52F	NM_144682	NP_653283	Q68D06	SLN13_HUMAN	schlafen family member 13	383						intracellular	ATP binding			ovary(1)|breast(1)	2				UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		ACCTTTCTTAGAATACACTGG	0.398		NA											10	96					0	0	0	0
MED1	5469	broad.mit.edu	37	17	37563769	37563769	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr17:37563769C>T	uc002hrv.3	-	17	4917	c.4705G>A	c.(4705-4707)GAA>AAA	p.E1569K	MED1_uc010wee.1_Missense_Mutation_p.E1397K|MED1_uc002hru.2_Intron	NM_004774	NP_004765	Q15648	MED1_HUMAN	mediator complex subunit 1	1569					androgen biosynthetic process|androgen receptor signaling pathway|cellular lipid metabolic process|fat cell differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|estrogen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|receptor activity|retinoic acid receptor binding|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			lung(2)|ovary(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	8		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)		TCATCATCTTCCTCCCCAATC	0.413		NA								HNSCC(31;0.082)			28	96					0	0	0	0
C17orf71	55181	broad.mit.edu	37	17	57290700	57290700	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr17:57290700G>A	uc002ixi.2	+	3	2558	c.2516G>A	c.(2515-2517)CGA>CAA	p.R839Q		NM_018149	NP_060619	Q8ND04	SMG8_HUMAN	SMG8 protein	839					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of protein kinase activity		protein binding				0	all_neural(34;0.0837)|Medulloblastoma(34;0.0922)					GGAAGACGGCGAGATGACATA	0.463		NA											26	208					0	0	0	0
ABCA10	10349	broad.mit.edu	37	17	67149444	67149444	+	Splice_Site	SNP	A	A	T			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr17:67149444A>T	uc010dfa.1	-	35	5015	c.4136_splice	c.e35+1	p.W1379_splice	ABCA10_uc002jhz.2_5'Flank|ABCA10_uc010wqs.1_Splice_Site_p.W371_splice|ABCA10_uc010wqt.1_Splice_Site	NM_080282	NP_525021	Q8WWZ4	ABCAA_HUMAN	ATP-binding cassette, sub-family A, member 10						transport	integral to membrane	ATP binding|ATPase activity			ovary(2)|central_nervous_system(1)|skin(1)	4	Breast(10;6.95e-12)					CACTCTCCTTACCACATTTGC	0.438		NA											15	161					0	0	0	0
SSTR2	6752	broad.mit.edu	37	17	71166496	71166496	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr17:71166496C>A	uc002jje.2	+	2	1398	c.1038C>A	c.(1036-1038)GAC>GAA	p.D346E		NM_001050	NP_001041	P30874	SSR2_HUMAN	somatostatin receptor 2	346	Cytoplasmic (Potential).				digestion|negative regulation of cell proliferation|response to nutrient	integral to plasma membrane	PDZ domain binding|somatostatin receptor activity				0			LUSC - Lung squamous cell carcinoma(166;0.197)			GTAAGCAGGACAAATCCCGGC	0.537		NA											37	99					6.85e-11	7.73e-11	1	0
BAIAP2	10458	broad.mit.edu	37	17	79058642	79058642	+	Silent	SNP	C	C	T			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr17:79058642C>T	uc002jzg.2	+	4	336	c.228C>T	c.(226-228)CTC>CTT	p.L76L	BAIAP2_uc002jyz.3_Silent_p.L76L|BAIAP2_uc002jza.2_Silent_p.L76L|BAIAP2_uc002jzc.2_Silent_p.L76L|BAIAP2_uc002jzb.2_5'UTR|BAIAP2_uc002jzd.2_Silent_p.L76L|BAIAP2_uc002jzf.2_Silent_p.L76L|BAIAP2_uc002jze.2_Silent_p.L109L|BAIAP2_uc010wuh.1_5'UTR|BAIAP2_uc002jzh.2_5'Flank	NM_017451	NP_059345	Q9UQB8	BAIP2_HUMAN	BAI1-associated protein 2 isoform 2	76	IMD.				axonogenesis|filopodium assembly|insulin receptor signaling pathway|regulation of actin cytoskeleton organization|response to bacterium	cell junction|cytoskeleton|cytosol|filopodium|nucleus|ruffle	cytoskeletal adaptor activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding				0	all_neural(118;0.101)		BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)			GAGACGTTCTCTTCCAGATGG	0.622		NA											35	298					0	0	0	0
SMCHD1	23347	broad.mit.edu	37	18	2732357	2732357	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr18:2732357A>T	uc002klm.3	+	25	3332	c.3143A>T	c.(3142-3144)AAG>ATG	p.K1048M	SMCHD1_uc002klk.3_RNA|SMCHD1_uc002kll.3_RNA	NM_015295	NP_056110	A6NHR9	SMHD1_HUMAN	structural maintenance of chromosomes flexible	1048					chromosome organization		ATP binding				0						GAAGGACAAAAGGCAATTCAG	0.368		NA											18	121					0	0	0	0
FECH	2235	broad.mit.edu	37	18	55218580	55218580	+	Silent	SNP	A	A	G			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr18:55218580A>G	uc002lgq.3	-	10	1221	c.1104T>C	c.(1102-1104)GCT>GCC	p.A368A	FECH_uc002lgp.3_Silent_p.A374A|FECH_uc002lgr.3_Silent_p.A226A	NM_000140	NP_000131	P22830	HEMH_HUMAN	ferrochelatase isoform b precursor	368					generation of precursor metabolites and energy|heme biosynthetic process|protoporphyrinogen IX metabolic process|response to light stimulus	mitochondrial inner membrane|mitochondrial matrix	2 iron, 2 sulfur cluster binding|ferrochelatase activity|ferrous iron binding|protein binding			central_nervous_system(1)	1		Colorectal(73;0.227)				TAAGAGACTCAGCTCTTCTGA	0.343		NA											6	75					0	0	0	0
ALPK2	115701	broad.mit.edu	37	18	56203584	56203584	+	Silent	SNP	G	G	A			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr18:56203584G>A	uc002lhj.3	-	5	4049	c.3835C>T	c.(3835-3837)CTA>TTA	p.L1279L	ALPK2_uc002lhk.1_Silent_p.L610L	NM_052947	NP_443179	Q86TB3	ALPK2_HUMAN	heart alpha-kinase	1279							ATP binding|protein serine/threonine kinase activity			ovary(7)|skin(5)|lung(1)|central_nervous_system(1)	14						TCTGCCTTTAGACTATCAGGT	0.502		NA											29	237					0	0	0	0
ALPK2	115701	broad.mit.edu	37	18	56203904	56203904	+	Missense_Mutation	SNP	G	G	A	rs140868694	byFrequency	TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr18:56203904G>A	uc002lhj.3	-	5	3729	c.3515C>T	c.(3514-3516)ACG>ATG	p.T1172M	ALPK2_uc002lhk.1_Missense_Mutation_p.T503M	NM_052947	NP_443179	Q86TB3	ALPK2_HUMAN	heart alpha-kinase	1172							ATP binding|protein serine/threonine kinase activity			ovary(7)|skin(5)|lung(1)|central_nervous_system(1)	14						TGAGTGGGCCGTGGGCACCAA	0.577		NA											6	131					0	0	0	0
CD209	30835	broad.mit.edu	37	19	7809920	7809920	+	Silent	SNP	G	G	A			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr19:7809920G>A	uc002mht.2	-	5	874	c.807C>T	c.(805-807)TTC>TTT	p.F269F	CD209_uc010xju.1_Silent_p.F108F|CD209_uc010dvp.2_Silent_p.F245F|CD209_uc002mhr.2_Silent_p.F245F|CD209_uc002mhs.2_Silent_p.F199F|CD209_uc002mhu.2_Silent_p.F177F|CD209_uc010dvq.2_Silent_p.F269F|CD209_uc002mhq.2_Silent_p.F269F|CD209_uc002mhv.2_Silent_p.F245F|CD209_uc002mhx.2_Silent_p.F225F|CD209_uc002mhw.2_Silent_p.F133F|CD209_uc010dvr.2_Intron	NM_021155	NP_066978	Q9NNX6	CD209_HUMAN	CD209 molecule isoform 1	269	Extracellular (Probable).|C-type lectin.				cell-cell recognition|endocytosis|heterophilic cell-cell adhesion|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to membrane|plasma membrane	mannose binding|metal ion binding|peptide antigen binding|receptor activity|virion binding			skin(1)	1						AGTTAGACATGAAGTAACAGT	0.562		NA											20	124					0	0	0	0
KRI1	65095	broad.mit.edu	37	19	10664771	10664771	+	Silent	SNP	C	C	T			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr19:10664771C>T	uc002moy.1	-	19	1995	c.1986G>A	c.(1984-1986)CGG>CGA	p.R662R	KRI1_uc002mow.1_Silent_p.R281R|KRI1_uc002mox.1_Silent_p.R658R	NM_023008	NP_075384	Q8N9T8	KRI1_HUMAN	KRI1 homolog	662										ovary(1)	1			Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)			GGCCCAGCAGCCGTGCCTTCT	0.647		NA											16	187					0	0	0	0
KRI1	65095	broad.mit.edu	37	19	10665764	10665764	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr19:10665764C>G	uc002moy.1	-	18	1807	c.1798G>C	c.(1798-1800)GAG>CAG	p.E600Q	KRI1_uc002mow.1_Missense_Mutation_p.E219Q|KRI1_uc002mox.1_Missense_Mutation_p.E596Q	NM_023008	NP_075384	Q8N9T8	KRI1_HUMAN	KRI1 homolog	600										ovary(1)	1			Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)			actgcttactcttctCGGCAG	0.299		NA											7	83					0	0	0	0
TNPO2	30000	broad.mit.edu	37	19	12817445	12817445	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr19:12817445T>A	uc002muo.2	-	13	1620	c.1435A>T	c.(1435-1437)ATG>TTG	p.M479L	TNPO2_uc002mup.2_Missense_Mutation_p.M571L|TNPO2_uc002muq.2_Missense_Mutation_p.M479L|TNPO2_uc002mur.2_Missense_Mutation_p.M479L|SNORD41_uc002mut.1_5'Flank	NM_001136196	NP_001129668	O14787	TNPO2_HUMAN	transportin 2 (importin 3, karyopherin beta 2b)	479	HEAT 8.				intracellular protein transport	cytoplasm|nucleus	nuclear localization sequence binding|protein binding|protein transporter activity			ovary(1)	1						AGCTCTGTCATCAGGGGCTTG	0.637		NA											14	54					0	0	0	0
WDR62	284403	broad.mit.edu	37	19	36562559	36562559	+	Silent	SNP	C	C	T			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr19:36562559C>T	uc002odc.2	+	8	1075	c.984C>T	c.(982-984)CTC>CTT	p.L328L	WDR62_uc002odd.2_Silent_p.L328L|WDR62_uc002odb.2_Silent_p.L328L	NM_173636	NP_775907	O43379	WDR62_HUMAN	WD repeat domain 62 isoform 2	328	WD 4.				cerebral cortex development	nucleus					0	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			TGCACTACCTCGCCAACCTGC	0.622		NA											10	93					0	0	0	0
ATP1A3	478	broad.mit.edu	37	19	42471887	42471887	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr19:42471887C>T	uc002osg.2	-	21	3002	c.2848G>A	c.(2848-2850)GAG>AAG	p.E950K	ATP1A3_uc010xwf.1_Missense_Mutation_p.E961K|ATP1A3_uc010xwg.1_Missense_Mutation_p.E920K|ATP1A3_uc010xwh.1_Missense_Mutation_p.E963K|ATP1A3_uc002osh.2_Missense_Mutation_p.E950K	NM_152296	NP_689509	P13637	AT1A3_HUMAN	Na+/K+ -ATPase alpha 3 subunit	950	Helical; (Potential).				ATP biosynthetic process	endoplasmic reticulum|Golgi apparatus	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			ovary(1)|pancreas(1)	2						GCCGTCTCCTCAAACAGCCCG	0.667		NA											6	47					0	0	0	0
ZNF347	84671	broad.mit.edu	37	19	53644064	53644064	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr19:53644064T>C	uc002qbb.1	-	5	2086	c.2017A>G	c.(2017-2019)AGA>GGA	p.R673G	ZNF347_uc010eql.1_Missense_Mutation_p.R674G|ZNF347_uc002qbc.1_Missense_Mutation_p.R674G	NM_032584	NP_115973	Q96SE7	ZN347_HUMAN	zinc finger protein 347	673	C2H2-type 15.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0				GBM - Glioblastoma multiforme(134;0.0179)		GTATGAACTCTCCGATGTCTT	0.428		NA											4	285					0	0	0	0
RPS5	6193	broad.mit.edu	37	19	58899511	58899511	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr19:58899511G>C	uc002qsn.2	+	2	79	c.7G>C	c.(7-9)GAG>CAG	p.E3Q	RPS5_uc002qso.2_Missense_Mutation_p.E3Q	NM_001009	NP_001000	P46782	RS5_HUMAN	ribosomal protein S5	3					endocrine pancreas development|regulation of translational fidelity|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit	mRNA binding|structural constituent of ribosome				0		all_cancers(17;1.71e-22)|all_epithelial(17;1.69e-16)|Lung NSC(17;2.25e-06)|all_lung(17;9.97e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Breast(46;0.0194)|Ovarian(87;0.0443)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.171)|GBM - Glioblastoma multiforme(193;0.0323)|Lung(386;0.0543)|LUSC - Lung squamous cell carcinoma(496;0.176)		CAGGATGACCGAGTGGGAGAC	0.552		NA											5	35					0	0	0	0
ZBTB45	84878	broad.mit.edu	37	19	59028386	59028386	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr19:59028386C>T	uc002qtd.2	-	2	947	c.655G>A	c.(655-657)GAT>AAT	p.D219N	ZBTB45_uc002qte.2_Missense_Mutation_p.D219N|ZBTB45_uc002qtf.2_Missense_Mutation_p.D219N	NM_032792	NP_116181	Q96K62	ZBT45_HUMAN	zinc finger and BTB domain containing 45	219					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		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;0.0165)|Lung(386;0.18)		TCCTCGCCATCGGTCTCATCG	0.647		NA									OREG0025700	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	61	529					0	0	0	0
AGBL5	60509	broad.mit.edu	37	2	27279594	27279594	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr2:27279594G>C	uc002rie.2	+	8	1686	c.1469G>C	c.(1468-1470)AGA>ACA	p.R490T	AGBL5_uc002rid.2_Missense_Mutation_p.R490T|AGBL5_uc002rif.2_RNA	NM_021831	NP_068603	Q8NDL9	CBPC5_HUMAN	ATP/GTP binding protein-like 5 isoform 1	490					protein branching point deglutamylation|proteolysis	cytosol|nucleus	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			ovary(1)|breast(1)	2	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CGAGACCGTAGAGATGGCCAG	0.463		NA											28	229					0	0	0	0
CCDC88A	55704	broad.mit.edu	37	2	55589533	55589533	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr2:55589533C>G	uc002ryv.2	-	7	1380	c.538G>C	c.(538-540)GAT>CAT	p.D180H	CCDC88A_uc010yoz.1_Missense_Mutation_p.D180H|CCDC88A_uc010ypa.1_Missense_Mutation_p.D180H|CCDC88A_uc010ypb.1_Missense_Mutation_p.D82H	NM_001135597	NP_001129069	Q3V6T2	GRDN_HUMAN	coiled-coil domain containing 88A isoform 1	180					activation of protein kinase B activity|cell migration|cellular membrane organization|DNA replication|lamellipodium assembly|microtubule cytoskeleton organization|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of DNA replication|regulation of neuron projection development|TOR signaling cascade	cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|Golgi apparatus|lamellipodium|plasma membrane	actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding			ovary(2)|skin(2)	4						TGCGACATATCAGTCACTTCC	0.348		NA											5	54					0	0	0	0
EFEMP1	2202	broad.mit.edu	37	2	56144916	56144916	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr2:56144916C>T	uc002rzh.2	-	4	731	c.401G>A	c.(400-402)CGA>CAA	p.R134Q	EFEMP1_uc002rzi.2_Missense_Mutation_p.R134Q|EFEMP1_uc002rzj.2_Missense_Mutation_p.R134Q|EFEMP1_uc010ypc.1_Missense_Mutation_p.R76Q	NM_004105	NP_004096	Q12805	FBLN3_HUMAN	EGF-containing fibulin-like extracellular matrix	134					negative regulation of chondrocyte differentiation|peptidyl-tyrosine phosphorylation|regulation of transcription, DNA-dependent|visual perception	extracellular space|proteinaceous extracellular matrix	calcium ion binding|epidermal growth factor receptor activity|epidermal growth factor receptor binding|growth factor activity			ovary(4)|pancreas(1)|skin(1)	6			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			AAAGTTATTTCGGCCAGTCTG	0.587		NA											17	109					0	0	0	0
MFSD9	84804	broad.mit.edu	37	2	103353179	103353179	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr2:103353179C>G	uc002tcb.2	-	1	159	c.91G>C	c.(91-93)GAG>CAG	p.E31Q	TMEM182_uc002tcc.3_5'Flank|TMEM182_uc002tcd.3_5'Flank|MFSD9_uc010fja.2_RNA	NM_032718	NP_116107	Q8NBP5	MFSD9_HUMAN	major facilitator superfamily domain containing	31					transmembrane transport	integral to membrane|plasma membrane	transporter activity			ovary(2)|breast(2)	4						GCCTCCGCCTCGGTTCCTGTC	0.672		NA											6	58					0	0	0	0
UGGT1	56886	broad.mit.edu	37	2	128865573	128865573	+	Silent	SNP	C	C	G			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr2:128865573C>G	uc002tps.2	+	4	517	c.339C>G	c.(337-339)CTC>CTG	p.L113L	UGGT1_uc010fme.1_Intron|UGGT1_uc002tpr.2_Silent_p.L89L	NM_020120	NP_064505	Q9NYU2	UGGG1_HUMAN	UDP-glucose ceramide glucosyltransferase-like 1	113					'de novo' posttranslational protein folding|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity|unfolded protein binding			ovary(1)	1						TGTCACCCCTCCAGCAGAATT	0.418		NA											26	192					0	0	0	0
SCN1A	6323	broad.mit.edu	37	2	166868758	166868758	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr2:166868758G>A	uc010zcz.1	-	19	3725	c.3707C>T	c.(3706-3708)ACG>ATG	p.T1236M	SCN1A_uc002udo.3_Missense_Mutation_p.T1116M|SCN1A_uc010fpk.2_Missense_Mutation_p.T1088M	NM_006920	NP_008851	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha	1247	III.					voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(6)|skin(6)|large_intestine(1)	13					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	CGTCTTAATCGTCTTTCGCTG	0.294		NA											12	42					0	0	0	0
TTN	7273	broad.mit.edu	37	2	179497064	179497064	+	Silent	SNP	C	C	T			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr2:179497064C>T	uc010zfg.1	-	185	36077	c.35853G>A	c.(35851-35853)GAG>GAA	p.E11951E	TTN_uc010zfh.1_Silent_p.E5646E|TTN_uc010zfi.1_Silent_p.E5579E|TTN_uc010zfj.1_Silent_p.E5454E	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	12878							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CATGAGATAACTCCACAGTAA	0.428		NA											3	16					0	0	0	0
TTN	7273	broad.mit.edu	37	2	179500746	179500746	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr2:179500746G>A	uc010zfg.1	-	175	34072	c.33848C>T	c.(33847-33849)ACA>ATA	p.T11283I	TTN_uc010zfh.1_Missense_Mutation_p.T4978I|TTN_uc010zfi.1_Missense_Mutation_p.T4911I|TTN_uc010zfj.1_Missense_Mutation_p.T4786I	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	12210							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CACAGTAACTGTGTATGTTCC	0.468		NA											16	163					0	0	0	0
NEUROD1	4760	broad.mit.edu	37	2	182543116	182543116	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr2:182543116G>A	uc002uof.2	-	2	708	c.472C>T	c.(472-474)CGC>TGC	p.R158C	CERKL_uc002uod.1_Intron	NM_002500	NP_002491	Q13562	NDF1_HUMAN	neurogenic differentiation 1	158					amacrine cell differentiation|cerebellum development|dentate gyrus development|embryonic organ morphogenesis|enteroendocrine cell differentiation|glucose homeostasis|inner ear development|insulin secretion|negative regulation of apoptosis|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of intestinal epithelial structure maintenance|response to glucose stimulus	cytoplasm|nucleus	chromatin binding|E-box binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding			ovary(1)	1			OV - Ovarian serous cystadenocarcinoma(117;0.088)			TTGCCTGAGCGCAGGATCTCC	0.562		NA											8	130					0	0	0	0
WNT6	7475	broad.mit.edu	37	2	219736445	219736445	+	Silent	SNP	C	C	T			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr2:219736445C>T	uc002vjc.1	+	3	755	c.540C>T	c.(538-540)GAC>GAT	p.D180D		NM_006522	NP_006513	Q9Y6F9	WNT6_HUMAN	wingless-type MMTV integration site family,	180					anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|cornea development in camera-type eye|neuron differentiation|odontogenesis of dentine-containing tooth|positive regulation of gene expression|positive regulation of tooth mineralization|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|signal transducer activity			ovary(2)|skin(1)	3		Renal(207;0.0474)		Epithelial(149;4.53e-07)|all cancers(144;9.3e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		ACTTCGGGGACGAGAAGTCGA	0.557		NA											3	23					0	0	0	0
PTPRN	5798	broad.mit.edu	37	2	220161532	220161532	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr2:220161532C>T	uc002vkz.2	-	16	2338	c.2249G>A	c.(2248-2250)CGC>CAC	p.R750H	PTPRN_uc010zlc.1_Missense_Mutation_p.R660H|PTPRN_uc002vla.2_Missense_Mutation_p.R721H|uc010zld.1_5'Flank|MIR153-1_hsa-mir-153-1|MI0000463_5'Flank	NM_002846	NP_002837	Q16849	PTPRN_HUMAN	protein tyrosine phosphatase, receptor type, N	750	Cytoplasmic (Potential).|Tyrosine-protein phosphatase.				response to reactive oxygen species	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			ovary(2)|lung(1)|skin(1)	4		Renal(207;0.0474)		Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875)		CAGTTTTATGCGGGCATGGTC	0.617		NA											3	46					0	0	0	0
SIGLEC1	6614	broad.mit.edu	37	20	3673302	3673302	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr20:3673302C>T	uc002wja.2	-	15	3896	c.3896G>A	c.(3895-3897)CGT>CAT	p.R1299H	SIGLEC1_uc002wjb.1_5'UTR|SIGLEC1_uc002wiz.3_Missense_Mutation_p.R1299H	NM_023068	NP_075556	Q9BZZ2	SN_HUMAN	sialoadhesin precursor	1299	Ig-like C2-type 13.|Extracellular (Potential).				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding			pancreas(4)|ovary(2)|skin(2)|breast(1)|central_nervous_system(1)	10						CTGCAGCCAACGACCGTTGTG	0.657		NA											12	55					0	0	0	0
JAG1	182	broad.mit.edu	37	20	10625009	10625009	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr20:10625009G>A	uc002wnw.2	-	19	2884	c.2368C>T	c.(2368-2370)CCC>TCC	p.P790S	JAG1_uc010gcd.1_Missense_Mutation_p.P348S	NM_000214	NP_000205	P78504	JAG1_HUMAN	jagged 1 precursor	790	EGF-like 15; calcium-binding (Potential).|Extracellular (Potential).				angiogenesis|cell communication|cell fate determination|endothelial cell differentiation|hemopoiesis|keratinocyte differentiation|myoblast differentiation|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation	extracellular region|integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding|structural molecule activity			lung(3)|ovary(2)|central_nervous_system(2)|breast(1)|pancreas(1)	9						ACTTACCAGGGATGAGGGCTG	0.323		NA							Alagille_Syndrome				4	41					0	0	0	0
C20orf79	140856	broad.mit.edu	37	20	18794470	18794470	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr20:18794470G>C	uc002wrk.2	+	1	101	c.11G>C	c.(10-12)AGA>ACA	p.R4T	uc002wrj.1_Intron	NM_178483	NP_848578	Q9UJQ7	CT079_HUMAN	hypothetical protein LOC140856	4							sterol binding			skin(3)	3						ATGTGGAAGAGAAGTGACCAT	0.512		NA											12	98					0	0	0	0
SUN5	140732	broad.mit.edu	37	20	31572920	31572920	+	Silent	SNP	C	C	T			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr20:31572920C>T	uc002wyi.2	-	12	1062	c.969G>A	c.(967-969)CAG>CAA	p.Q323Q		NM_080675	NP_542406	Q8TC36	SUN5_HUMAN	sperm associated antigen 4-like	323	SUN.				spermatogenesis					skin(1)	1						GTGGGAACATCTGGATGATGT	0.353		NA											17	153					0	0	0	0
RBL1	5933	broad.mit.edu	37	20	35696492	35696492	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr20:35696492C>T	uc002xgi.2	-	3	467	c.388G>A	c.(388-390)GAG>AAG	p.E130K	RBL1_uc010zvt.1_RNA|RBL1_uc002xgj.1_Missense_Mutation_p.E130K|RBL1_uc010gfv.1_RNA	NM_002895	NP_002886	P28749	RBL1_HUMAN	retinoblastoma-like protein 1 isoform a	130					cell cycle|chromatin modification|interspecies interaction between organisms|regulation of cell cycle|regulation of lipid kinase activity|transcription, DNA-dependent		transcription factor binding			lung(5)|skin(3)|ovary(2)	10		Myeloproliferative disorder(115;0.00878)				GTAGACACCTCAAAATTTCTC	0.313		NA											8	69					0	0	0	0
PTPRT	11122	broad.mit.edu	37	20	41408885	41408885	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr20:41408885C>T	uc002xkg.2	-	4	725	c.541G>A	c.(541-543)GAG>AAG	p.E181K	PTPRT_uc010ggj.2_Missense_Mutation_p.E181K	NM_007050	NP_008981	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	181	Extracellular (Potential).|MAM.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			skin(8)|ovary(7)|lung(5)	20		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				ACCCGGACCTCGTCCACGGCG	0.527		NA											12	156					0	0	0	0
LIPI	149998	broad.mit.edu	37	21	15537706	15537706	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr21:15537706G>C	uc002yjm.2	-	6	812	c.802C>G	c.(802-804)CAA>GAA	p.Q268E	LIPI_uc010gkw.1_Missense_Mutation_p.Q171E	NM_198996	NP_945347	Q6XZB0	LIPI_HUMAN	lipase, member I	247					lipid catabolic process	extracellular region|extracellular space|membrane|plasma membrane	heparin binding|phospholipase activity			ovary(2)	2				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.0015)|Colorectal(24;0.00693)|Lung(58;0.166)		TTAATGAATTGAATTCCTTAA	0.303		NA											8	105					0	0	0	0
CECR2	27443	broad.mit.edu	37	22	18020172	18020172	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr22:18020172G>C	uc010gqw.1	+	13	1627	c.1501G>C	c.(1501-1503)GAT>CAT	p.D501H	CECR2_uc010gqv.1_Missense_Mutation_p.D360H|CECR2_uc002zml.2_Missense_Mutation_p.D360H	NM_031413	NP_113601	Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2	543					chromatin modification|cytokinesis|cytoskeleton organization|DNA fragmentation involved in apoptotic nuclear change|vesicle-mediated transport		protein binding			ovary(1)|skin(1)	2		all_epithelial(15;0.139)		Lung(27;0.146)		TCCTGGAGAAGATGGAGACAC	0.463		NA											7	14					0	0	0	0
C22orf25	128989	broad.mit.edu	37	22	20049075	20049075	+	Silent	SNP	G	G	A			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr22:20049075G>A	uc010grw.1	+	8	811	c.474G>A	c.(472-474)GCG>GCA	p.A158A	C22orf25_uc002zrb.1_Silent_p.A96A|C22orf25_uc002zrc.1_Silent_p.A158A|C22orf25_uc002zrd.1_Silent_p.A124A|C22orf25_uc011ahe.1_Intron|C22orf25_uc011ahf.1_Intron|C22orf25_uc011ahg.1_Intron|C22orf25_uc002zrg.2_Silent_p.A199A|C22orf25_uc011ahh.1_Silent_p.A158A|C22orf25_uc002zrf.2_Silent_p.A96A|C22orf25_uc011ahi.1_Silent_p.A60A|C22orf25_uc010gry.1_Intron|C22orf25_uc002zrh.1_Silent_p.A60A	NM_152906	NP_690870	Q6ICL3	CV025_HUMAN	hypothetical protein LOC128989	158											0	Colorectal(54;0.0533)					TGAGCAACGCGCTGCTGGAGA	0.627		NA											3	17					0	0	0	0
LZTR1	8216	broad.mit.edu	37	22	21347982	21347982	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr22:21347982A>T	uc002zto.2	+	12	1395	c.1292A>T	c.(1291-1293)GAG>GTG	p.E431V	LZTR1_uc002ztn.2_Missense_Mutation_p.E390V|LZTR1_uc011ahy.1_Missense_Mutation_p.E412V|LZTR1_uc010gsr.1_Missense_Mutation_p.E302V|LZTR1_uc002ztp.2_5'Flank	NM_006767	NP_006758	Q8N653	LZTR1_HUMAN	leucine-zipper-like transcription regulator 1	431	Kelch 6.				anatomical structure morphogenesis		sequence-specific DNA binding transcription factor activity			ovary(2)|lung(2)	4	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			ACGCTGCACGAGGACTACGGG	0.637		NA											11	43					0	0	0	0
GAL3ST1	9514	broad.mit.edu	37	22	30953272	30953272	+	Silent	SNP	C	C	T			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr22:30953272C>T	uc003aig.1	-	3	248	c.108G>A	c.(106-108)CCG>CCA	p.P36P	GAL3ST1_uc003aih.1_Silent_p.P36P|GAL3ST1_uc003aii.1_Silent_p.P36P|GAL3ST1_uc010gvz.1_Silent_p.P36P	NM_004861	NP_004852	Q99999	G3ST1_HUMAN	galactose-3-O-sulfotransferase 1	36	Lumenal (Potential).				protein N-linked glycosylation	Golgi membrane|integral to plasma membrane|membrane fraction	galactosylceramide sulfotransferase activity				0						CGGCATGCAGCGGGGGCACGG	0.647		NA											9	116					0	0	0	0
NAGA	4668	broad.mit.edu	37	22	42456988	42456988	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr22:42456988C>T	uc003bbx.2	-	9	1178	c.1041G>A	c.(1039-1041)ATG>ATA	p.M347I	NAGA_uc003bby.2_Missense_Mutation_p.M347I|NAGA_uc003bbw.3_Missense_Mutation_p.M347I	NM_000262	NP_000253	P17050	NAGAB_HUMAN	alpha-N-acetylgalactosaminidase precursor	347					glycoside catabolic process|glycosylceramide catabolic process|oligosaccharide metabolic process	lysosome	alpha-galactosidase activity|alpha-N-acetylgalactosaminidase activity|cation binding|protein homodimerization activity			central_nervous_system(1)	1						AGCGATAAGGCATATCGGTCC	0.567		NA											15	116					0	0	0	0
SBF1	6305	broad.mit.edu	37	22	50898432	50898432	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr22:50898432G>C	uc003blh.2	-	26	3635	c.3440C>G	c.(3439-3441)TCT>TGT	p.S1147C	SBF1_uc011arx.1_Missense_Mutation_p.S811C	NM_002972	NP_002963	O95248	MTMR5_HUMAN	SET binding factor 1	1147	Myotubularin phosphatase.				protein dephosphorylation	integral to membrane|nucleus	protein tyrosine/serine/threonine phosphatase activity				0		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)		GAAGGGCTCAGACTTGGCCCG	0.662		NA											15	105					0	0	0	0
CSPG5	10675	broad.mit.edu	37	3	47619197	47619197	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr3:47619197C>T	uc003crp.3	-	2	495	c.319G>A	c.(319-321)GGC>AGC	p.G107S	CSPG5_uc003crn.2_5'UTR|CSPG5_uc003cro.3_Missense_Mutation_p.G107S|CSPG5_uc011bbb.1_5'UTR	NM_006574	NP_006565	O95196	CSPG5_HUMAN	chondroitin sulfate proteoglycan 5 (neuroglycan	107	Extracellular (Potential).				cell differentiation|intracellular transport|nervous system development|regulation of growth	endoplasmic reticulum membrane|Golgi-associated vesicle membrane|integral to plasma membrane|membrane fraction	growth factor activity			ovary(1)|central_nervous_system(1)	2				BRCA - Breast invasive adenocarcinoma(193;0.000266)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		CCTCCCAGGCCTGGGCTGTCA	0.716		NA											10	76					0	0	0	0
CRYBG3	131544	broad.mit.edu	37	3	97596124	97596124	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr3:97596124C>T	uc003drx.2	+	1	306	c.242C>T	c.(241-243)ACG>ATG	p.T81M		NM_153605	NP_705833			beta-gamma crystallin domain containing 3												0						TTTCATGATACGTCCGCTGAC	0.423		NA											12	100					0	0	0	0
ESYT3	83850	broad.mit.edu	37	3	138178826	138178826	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr3:138178826G>A	uc003esk.2	+	6	914	c.688G>A	c.(688-690)GTG>ATG	p.V230M	ESYT3_uc010hug.2_RNA	NM_031913	NP_114119	A0FGR9	ESYT3_HUMAN	family with sequence similarity 62 (C2 domain	230						integral to membrane|plasma membrane					0						GCCCCTCCTAGTGGACAAGCC	0.632		NA											24	122					0	0	0	0
VEPH1	79674	broad.mit.edu	37	3	157004456	157004456	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr3:157004456T>A	uc003fbj.1	-	12	2335	c.2018A>T	c.(2017-2019)GAC>GTC	p.D673V	VEPH1_uc003fbk.1_Missense_Mutation_p.D673V|VEPH1_uc010hvu.1_Missense_Mutation_p.D628V	NM_024621	NP_078897	Q14D04	MELT_HUMAN	ventricular zone expressed PH domain homolog 1	673						plasma membrane				breast(3)|ovary(1)|lung(1)	5			Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)			CTGTACCTGGTCCAGATCCTG	0.493		NA											10	125					0	0	0	0
MCF2L2	23101	broad.mit.edu	37	3	182925545	182925545	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr3:182925545C>T	uc003fli.1	-	23	2653	c.2563G>A	c.(2563-2565)GAT>AAT	p.D855N		NM_015078	NP_055893	Q86YR7	MF2L2_HUMAN	Rho family guanine-nucleotide exchange factor	855	PH.				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			ovary(2)|large_intestine(2)|breast(1)	5	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			TTATAACGATCCTTGTGAATT	0.423		NA											20	84					0	0	0	0
CRMP1	1400	broad.mit.edu	37	4	5862865	5862865	+	Silent	SNP	G	G	A	rs145307270		TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr4:5862865G>A	uc003gip.2	-	4	302	c.201C>T	c.(199-201)CCC>CCT	p.P67P	CRMP1_uc003gin.1_Intron|CRMP1_uc003giq.2_Silent_p.P67P|CRMP1_uc003gir.2_Silent_p.P62P|CRMP1_uc003gis.2_Silent_p.P181P	NM_001313	NP_001304	Q14194	DPYL1_HUMAN	collapsin response mediator protein 1 isoform 2	67					axon guidance|pyrimidine base catabolic process	cytosol|microtubule organizing center|spindle	dihydropyrimidinase activity|protein binding			ovary(2)	2				Colorectal(103;0.0721)		CAATACCTCCGGGAATAACCA	0.552		NA											5	219					0	0	0	0
PCDH7	5099	broad.mit.edu	37	4	30724332	30724332	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr4:30724332G>A	uc003gsk.1	+	1	2296	c.1288G>A	c.(1288-1290)GCC>ACC	p.A430T	PCDH7_uc011bxw.1_Missense_Mutation_p.A383T|PCDH7_uc011bxx.1_Missense_Mutation_p.A430T	NM_002589	NP_002580	O60245	PCDH7_HUMAN	protocadherin 7 isoform a precursor	430	Extracellular (Potential).|Cadherin 4.				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			upper_aerodigestive_tract(1)|ovary(1)|liver(1)|skin(1)	4						GGACGGGGTGGCCAACGTGGC	0.617		NA											3	58					0	0	0	0
PHOX2B	8929	broad.mit.edu	37	4	41748274	41748274	+	Silent	SNP	G	G	A			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr4:41748274G>A	uc003gwf.3	-	3	855	c.495C>T	c.(493-495)GCC>GCT	p.A165A		NM_003924	NP_003915	Q99453	PHX2B_HUMAN	paired-like homeobox 2b	165	Poly-Ala.				positive regulation of transcription from RNA polymerase II promoter	nuclear chromatin	RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			autonomic_ganglia(7)|lung(2)|ovary(2)|central_nervous_system(1)	12						TCTTGGCCGCGGCCGCTGCGG	0.657		NA	Mis|F		neuroblastoma	neuroblastoma	congenital central hypoventilation syndrome		Neuroblastoma_Familial_Clustering_of|Congenital_Central_Hypoventilation_Syndrome				8	35					0	0	0	0
GRXCR1	389207	broad.mit.edu	37	4	42895345	42895345	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr4:42895345C>T	uc003gwt.2	+	1	62	c.62C>T	c.(61-63)GCG>GTG	p.A21V		NM_001080476	NP_001073945	A8MXD5	GRCR1_HUMAN	glutaredoxin, cysteine rich 1	21					cell redox homeostasis|inner ear receptor stereocilium organization|sensory perception of sound|vestibular receptor cell development	kinocilium|stereocilium	electron carrier activity|protein disulfide oxidoreductase activity			ovary(1)	1						TTTCGGATCGCGTCCTCTCAC	0.507		NA											5	181					0	0	0	0
KIAA1211	57482	broad.mit.edu	37	4	57190422	57190422	+	Silent	SNP	G	G	A			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr4:57190422G>A	uc003hbk.2	+	10	3922	c.3531G>A	c.(3529-3531)ACG>ACA	p.T1177T	KIAA1211_uc010iha.2_Silent_p.T1170T	NM_020722	NP_065773	Q6ZU35	K1211_HUMAN	hypothetical protein LOC57482	1177										ovary(1)|skin(1)	2	Glioma(25;0.08)|all_neural(26;0.101)					CTCTTCCTACGTCTGTGACAG	0.488		NA											24	63					0	0	0	0
TMPRSS11D	9407	broad.mit.edu	37	4	68725342	68725342	+	Silent	SNP	G	G	A			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr4:68725342G>A	uc003hdq.2	-	2	128	c.63C>T	c.(61-63)TTC>TTT	p.F21F	LOC550112_uc003hdl.3_Intron|TMPRSS11D_uc011caj.1_Intron	NM_004262	NP_004253	O60235	TM11D_HUMAN	transmembrane protease, serine 11D	21	Helical; Signal-anchor for type II membrane protein; (Potential).				proteolysis|respiratory gaseous exchange	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			ovary(1)	1						CGACGACAATGAAACATACTA	0.383		NA											5	97					0	0	0	0
ENAM	10117	broad.mit.edu	37	4	71507743	71507743	+	Silent	SNP	T	T	C			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr4:71507743T>C	uc011caw.1	+	9	881	c.600T>C	c.(598-600)TTT>TTC	p.F200F		NM_031889	NP_114095	Q9NRM1	ENAM_HUMAN	enamelin precursor	200					bone mineralization|odontogenesis	proteinaceous extracellular matrix	structural constituent of tooth enamel			ovary(3)	3			Lung(101;0.235)			ATCCTTACTTTGGATATTTTG	0.353		NA											70	300					0	0	0	0
THAP9	79725	broad.mit.edu	37	4	83839109	83839109	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr4:83839109G>A	uc003hnt.2	+	5	1863	c.1744G>A	c.(1744-1746)GAG>AAG	p.E582K	THAP9_uc003hns.1_Missense_Mutation_p.E438K|THAP9_uc003hnu.1_RNA|THAP9_uc003hnv.2_Missense_Mutation_p.E299K	NM_024672	NP_078948	Q9H5L6	THAP9_HUMAN	THAP domain containing 9	582							DNA binding|metal ion binding			ovary(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	5		Hepatocellular(203;0.114)				GCTCAATGCTGAGAGCTTAAA	0.333		NA											5	90					0	0	0	0
SCLT1	132320	broad.mit.edu	37	4	129864201	129864201	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr4:129864201C>G	uc003igp.2	-	17	2088	c.1582G>C	c.(1582-1584)GAG>CAG	p.E528Q	SCLT1_uc003ign.2_Missense_Mutation_p.E192Q|SCLT1_uc003igo.2_Missense_Mutation_p.E138Q|SCLT1_uc003igq.2_Intron|SCLT1_uc010iob.1_Intron	NM_144643	NP_653244	Q96NL6	SCLT1_HUMAN	sodium channel associated protein 1	528	Potential.					centrosome				ovary(3)|lung(1)|central_nervous_system(1)	5						CTTAAACTCTCAGTCTCTTTC	0.363		NA											13	240					0	0	0	0
PCDH18	54510	broad.mit.edu	37	4	138452188	138452188	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr4:138452188G>C	uc003ihe.3	-	1	1442	c.1055C>G	c.(1054-1056)CCT>CGT	p.P352R	PCDH18_uc003ihf.3_Missense_Mutation_p.P345R|PCDH18_uc011cgz.1_Intron|PCDH18_uc003ihg.3_Missense_Mutation_p.P132R|PCDH18_uc011cha.1_Intron	NM_019035	NP_061908	Q9HCL0	PCD18_HUMAN	protocadherin 18 precursor	352	Cadherin 3.|Extracellular (Potential).				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			pancreas(3)|skin(2)	5	all_hematologic(180;0.24)					GTTAATTTCAGGTTTATTGTC	0.358		NA											19	90					0	0	0	0
SC4MOL	6307	broad.mit.edu	37	4	166254491	166254491	+	Splice_Site	SNP	G	G	T			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr4:166254491G>T	uc003ire.2	+	2	100	c.-30_splice	c.e2-1		SC4MOL_uc010irb.2_Splice_Site|SC4MOL_uc003irf.2_Intron	NM_006745	NP_006736	Q15800	ERG25_HUMAN	sterol-C4-methyl oxidase-like isoform 1						cholesterol biosynthetic process|fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	C-4 methylsterol oxidase activity|iron ion binding				0	all_hematologic(180;0.221)	Prostate(90;0.0959)|Melanoma(52;0.18)		GBM - Glioblastoma multiforme(119;0.0875)	NADH(DB00157)	CATTTCTACAGAATTATAAGG	0.294		NA											6	104					3.6e-05	3.96e-05	1	0
SORBS2	8470	broad.mit.edu	37	4	186544853	186544853	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr4:186544853G>C	uc003iyl.2	-	13	2576	c.1718C>G	c.(1717-1719)TCT>TGT	p.S573C	SORBS2_uc003iyh.2_Intron|SORBS2_uc011ckw.1_Intron|SORBS2_uc003iyi.2_Intron|SORBS2_uc011ckx.1_Intron|SORBS2_uc003iyk.2_Intron|SORBS2_uc003iym.2_Missense_Mutation_p.S673C|SORBS2_uc003iyn.1_Intron|SORBS2_uc011cku.1_Intron|SORBS2_uc011ckv.1_Missense_Mutation_p.S477C|SORBS2_uc003iyd.2_Intron|SORBS2_uc003iye.2_Intron|SORBS2_uc003iya.2_Intron|SORBS2_uc003iyb.2_Intron|SORBS2_uc003iyc.2_Intron|SORBS2_uc003iyg.2_Missense_Mutation_p.S687C|SORBS2_uc003iyf.2_Intron|SORBS2_uc003iyo.1_Intron	NM_021069	NP_066547	O94875	SRBS2_HUMAN	sorbin and SH3 domain containing 2 isoform 2	573						actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			ovary(1)	1		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		CAGGGCGTTAGACTGGCAGCC	0.592		NA											17	82					0	0	0	0
SORBS2	8470	broad.mit.edu	37	4	186545169	186545169	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr4:186545169C>T	uc003iyl.2	-	13	2260	c.1402G>A	c.(1402-1404)GAG>AAG	p.E468K	SORBS2_uc003iyh.2_Intron|SORBS2_uc011ckw.1_Intron|SORBS2_uc003iyi.2_Intron|SORBS2_uc011ckx.1_Intron|SORBS2_uc003iyk.2_Intron|SORBS2_uc003iym.2_Missense_Mutation_p.E568K|SORBS2_uc003iyn.1_Intron|SORBS2_uc011cku.1_Intron|SORBS2_uc011ckv.1_Missense_Mutation_p.E372K|SORBS2_uc003iyd.2_Intron|SORBS2_uc003iye.2_Intron|SORBS2_uc003iya.2_Intron|SORBS2_uc003iyb.2_Intron|SORBS2_uc003iyc.2_Intron|SORBS2_uc003iyg.2_Missense_Mutation_p.E582K|SORBS2_uc003iyf.2_Intron|SORBS2_uc003iyo.1_Intron	NM_021069	NP_066547	O94875	SRBS2_HUMAN	sorbin and SH3 domain containing 2 isoform 2	468						actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			ovary(1)	1		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		CAGATCACCTCGGAGTTCATC	0.587		NA											14	201					0	0	0	0
ADAMTS16	170690	broad.mit.edu	37	5	5200364	5200364	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr5:5200364A>G	uc003jdl.2	+	9	1571	c.1433A>G	c.(1432-1434)TAT>TGT	p.Y478C	ADAMTS16_uc003jdk.1_Missense_Mutation_p.Y478C|ADAMTS16_uc003jdj.1_Missense_Mutation_p.Y478C	NM_139056	NP_620687	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1	478	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(3)|lung(2)|large_intestine(1)|breast(1)|pancreas(1)	8						AGCCGCCAGTATCTACACAAA	0.517		NA											12	111					0	0	0	0
C7	730	broad.mit.edu	37	5	40972634	40972634	+	Missense_Mutation	SNP	T	T	G			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr5:40972634T>G	uc003jmh.2	+	15	2126	c.2012T>G	c.(2011-2013)TTT>TGT	p.F671C	C7_uc011cpn.1_RNA	NM_000587	NP_000578	P10643	CO7_HUMAN	complement component 7 precursor	671	Sushi 2.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex					0		Ovarian(839;0.0112)				CCTTCAGCATTTCTCTGTGGC	0.488		NA											21	205					0	0	0	0
NRG2	9542	broad.mit.edu	37	5	139422017	139422017	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr5:139422017G>A	uc003lex.1	-	1	863	c.638C>T	c.(637-639)CCC>CTC	p.P213L	NRG2_uc003lev.1_Missense_Mutation_p.P213L|NRG2_uc003lew.1_Missense_Mutation_p.P213L|NRG2_uc003ley.1_Missense_Mutation_p.P213L	NM_004883	NP_004874	O14511	NRG2_HUMAN	neuregulin 2 isoform 1	213	Extracellular (Potential).				embryo development	extracellular region|integral to membrane|plasma membrane	growth factor activity			pancreas(2)|breast(2)|ovary(1)|skin(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGTATCGAGGGGGGCAAAGGC	0.572		NA											3	8					0	0	0	0
PCDHB6	56130	broad.mit.edu	37	5	140530097	140530097	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr5:140530097G>T	uc003lir.2	+	1	259	c.259G>T	c.(259-261)GAA>TAA	p.E87*	PCDHB6_uc011dah.1_5'UTR	NM_018939	NP_061762	Q9Y5E3	PCDB6_HUMAN	protocadherin beta 6 precursor	87	Extracellular (Potential).|Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			skin(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACTGCTAAATGAAAAACTGGA	0.517		NA											22	170					2.4e-15	2.73e-15	1	0
PCDHB6	56130	broad.mit.edu	37	5	140530481	140530481	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr5:140530481G>C	uc003lir.2	+	1	643	c.643G>C	c.(643-645)GAT>CAT	p.D215H	PCDHB6_uc011dah.1_Missense_Mutation_p.D79H	NM_018939	NP_061762	Q9Y5E3	PCDB6_HUMAN	protocadherin beta 6 precursor	215	Cadherin 2.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			skin(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GATCGCGCTGGATGGCGGGTC	0.602		NA											6	92					0	0	0	0
PCDHGA12	26025	broad.mit.edu	37	5	140810927	140810927	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr5:140810927G>A	uc003lkt.1	+	1	770	c.601G>A	c.(601-603)GAC>AAC	p.D201N	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkn.1_Intron|PCDHGA11_uc003lkp.1_Intron|PCDHGA11_uc003lkq.1_Intron|PCDHGA12_uc011dba.1_Missense_Mutation_p.D201N	NM_003735	NP_003726	O60330	PCDGC_HUMAN	protocadherin gamma subfamily A, 12 isoform 1	201	Extracellular (Potential).|Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)|pancreas(1)|skin(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACGCGCCCTGGACCGCGAAGA	0.627		NA											46	179					0	0	0	0
PCDHGA12	26025	broad.mit.edu	37	5	140812206	140812206	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr5:140812206G>A	uc003lkt.1	+	1	2049	c.1880G>A	c.(1879-1881)CGC>CAC	p.R627H	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkn.1_Intron|PCDHGA11_uc003lkp.1_Intron|PCDHGA11_uc003lkq.1_Intron|PCDHGA12_uc011dba.1_Missense_Mutation_p.R627H	NM_003735	NP_003726	O60330	PCDGC_HUMAN	protocadherin gamma subfamily A, 12 isoform 1	627	Cadherin 6.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)|pancreas(1)|skin(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCGAGGTGCGCACGGCGCGA	0.687		NA											10	112					0	0	0	0
ATP10B	23120	broad.mit.edu	37	5	160097667	160097667	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr5:160097667G>T	uc003lym.1	-	7	1325	c.478C>A	c.(478-480)CAG>AAG	p.Q160K	ATP10B_uc003lyp.2_Missense_Mutation_p.Q160K|ATP10B_uc011deg.1_Missense_Mutation_p.Q204K|ATP10B_uc003lyo.2_Missense_Mutation_p.Q132K	NM_025153	NP_079429	O94823	AT10B_HUMAN	ATPase, class V, type 10B	160	Cytoplasmic (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)			ACATAGGTCTGCTCTTTTCTT	0.458		NA											24	164					9.81e-20	1.13e-19	1	0
ODZ2	57451	broad.mit.edu	37	5	167674088	167674088	+	Silent	SNP	C	C	T			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr5:167674088C>T	uc010jjd.2	+	27	6117	c.6117C>T	c.(6115-6117)GTC>GTT	p.V2039V	ODZ2_uc003lzr.3_Silent_p.V1809V|ODZ2_uc003lzt.3_Silent_p.V1412V|ODZ2_uc010jje.2_Silent_p.V1303V	NM_001122679	NP_001116151			odz, odd Oz/ten-m homolog 2											ovary(6)|central_nervous_system(4)	10	Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242)	Medulloblastoma(196;0.0241)|all_neural(177;0.026)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124)		CCACTGGTGTCTTGAAGATGG	0.537		NA											17	152					0	0	0	0
COL23A1	91522	broad.mit.edu	37	5	177697340	177697340	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr5:177697340G>A	uc003mje.2	-	6	824	c.466C>T	c.(466-468)CCC>TCC	p.P156S	COL23A1_uc010jkt.2_Silent_p.S3S	NM_173465	NP_775736	Q86Y22	CONA1_HUMAN	collagen, type XXIII, alpha 1	156	Extracellular (Potential).|Collagen-like 1.|Gly-rich.					collagen|integral to membrane|plasma membrane	protein binding			central_nervous_system(1)|skin(1)	2	all_cancers(89;0.00188)|Renal(175;0.000159)|Lung NSC(126;0.00814)|all_lung(126;0.0129)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	OV - Ovarian serous cystadenocarcinoma(192;0.153)|all cancers(165;0.172)		TCACTTACGGGCTTGCCATCC	0.597		NA											6	39					0	0	0	0
HIST1H3C	8352	broad.mit.edu	37	6	26045748	26045748	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr6:26045748A>T	uc003nfv.2	+	1	110	c.110A>T	c.(109-111)AAG>ATG	p.K37M	HIST1H2BB_uc003nfu.2_5'Flank	NM_003531	NP_003522	P68431	H31_HUMAN	histone cluster 1, H3c	37					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding			ovary(1)	1						GGTGGCGTGAAGAAACCTCAT	0.632		NA											16	80					0	0	0	0
HIST1H2AC	8334	broad.mit.edu	37	6	26124629	26124629	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr6:26124629G>C	uc003ngm.2	+	1	257	c.169G>C	c.(169-171)GAG>CAG	p.E57Q	HIST1H2BC_uc003ngk.3_5'Flank|HIST1H2BC_uc003ngl.2_5'Flank|HIST1H2AC_uc003ngn.2_RNA|HIST1H2AC_uc003ngo.2_RNA|HIST1H2AC_uc003ngp.2_Missense_Mutation_p.E57Q	NM_003512	NP_003503	Q93077	H2A1C_HUMAN	histone cluster 1, H2ac	57					nucleosome assembly	nucleosome|nucleus	DNA binding				0						GGCGGTGTTAGAGTACCTGAC	0.662		NA											10	46					0	0	0	0
ZKSCAN3	80317	broad.mit.edu	37	6	28333970	28333970	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr6:28333970C>T	uc003nle.3	+	6	1741	c.1525C>T	c.(1525-1527)CAG>TAG	p.Q509*	ZKSCAN3_uc010jrc.2_Nonsense_Mutation_p.Q509*|ZKSCAN3_uc003nlf.3_Nonsense_Mutation_p.Q361*|uc010jrd.2_5'Flank	NM_024493	NP_077819	Q9BRR0	ZKSC3_HUMAN	zinc finger with KRAB and SCAN domains 3	509	C2H2-type 7.				positive regulation of transcription, DNA-dependent|viral reproduction	nucleus	chromatin binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			skin(2)	2						GAAACCCTATCAGTGTAATGC	0.413		NA											7	78					0	0	0	0
CFB	629	broad.mit.edu	37	6	31918538	31918538	+	Silent	SNP	C	C	T			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr6:31918538C>T	uc003nyj.3	+	13	2045	c.1767C>T	c.(1765-1767)GGC>GGT	p.G589G	CFB_uc011dor.1_Silent_p.G1091G	NM_001710	NP_001701	P00751	CFAB_HUMAN	complement factor B preproprotein	589	Peptidase S1.				complement activation, alternative pathway|proteolysis	extracellular region|plasma membrane	complement binding|serine-type endopeptidase activity			skin(1)	1						TGAAATATGGCCAGACTATCA	0.483		NA											4	149					0	0	0	0
C6orf165	154313	broad.mit.edu	37	6	88127960	88127960	+	Silent	SNP	C	C	T			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr6:88127960C>T	uc003plv.2	+	7	758	c.666C>T	c.(664-666)ACC>ACT	p.T222T	C6orf165_uc003plw.2_Silent_p.T34T|C6orf165_uc010kbv.1_RNA|C6orf165_uc003plu.1_Silent_p.T222T	NM_001031743	NP_001026913	Q8IYR0	CF165_HUMAN	hypothetical protein LOC154313 isoform 1	222										central_nervous_system(1)	1		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0419)		TCCCAGCCACCATGCAGCATA	0.493		NA											11	89					0	0	0	0
MDN1	23195	broad.mit.edu	37	6	90387317	90387317	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr6:90387317C>T	uc003pnn.1	-	76	12627	c.12511G>A	c.(12511-12513)GTC>ATC	p.V4171I		NM_014611	NP_055426	Q9NU22	MDN1_HUMAN	MDN1, midasin homolog	4171					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			ovary(8)|skin(2)	10		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		GTGCTGCTGACGATGGACAAT	0.433		NA											19	113					0	0	0	0
FGFR1OP	11116	broad.mit.edu	37	6	167427050	167427050	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr6:167427050G>A	uc003qvj.2	+	7	659	c.574G>A	c.(574-576)GAC>AAC	p.D192N	CCR6_uc003qvl.2_Intron|FGFR1OP_uc011egp.1_Intron|FGFR1OP_uc003qvk.2_Intron	NM_007045	NP_008976	O95684	FR1OP_HUMAN	FGFR1 oncogene partner isoform a	192					G2/M transition of mitotic cell cycle|microtubule anchoring|positive regulation of cell growth|positive regulation of cell migration|positive regulation of cell proliferation	centrosome|cytosol|nucleus|perinuclear region of cytoplasm	protein homodimerization activity|protein kinase binding|protein tyrosine kinase inhibitor activity			ovary(1)	1		Breast(66;1.48e-05)|Ovarian(120;0.0607)		OV - Ovarian serous cystadenocarcinoma(33;1.73e-19)|BRCA - Breast invasive adenocarcinoma(81;5.1e-06)|GBM - Glioblastoma multiforme(31;0.00231)		GAAGGCTGGTGACAAGGTAAC	0.488		NA	T	FGFR1	MPD|NHL								6	97					0	0	0	0
TMEM195	392636	broad.mit.edu	37	7	15427042	15427042	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr7:15427042C>T	uc003stb.1	-	9	1116	c.946G>A	c.(946-948)GAA>AAA	p.E316K		NM_001004320	NP_001004320	Q6ZNB7	ALKMO_HUMAN	transmembrane protein 195	316					ether lipid metabolic process|fatty acid biosynthetic process|membrane lipid metabolic process	endoplasmic reticulum membrane|integral to membrane	glyceryl-ether monooxygenase activity|iron ion binding				0						TCTGGAATTTCTTCACTGAGA	0.338		NA											17	256					0	0	0	0
TXNDC3	51314	broad.mit.edu	37	7	37916515	37916515	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr7:37916515G>C	uc003tfn.2	+	12	1272	c.900G>C	c.(898-900)ATG>ATC	p.M300I		NM_016616	NP_057700	Q8N427	TXND3_HUMAN	thioredoxin domain containing 3	300					cell differentiation|cell redox homeostasis|CTP biosynthetic process|GTP biosynthetic process|multicellular organismal development|spermatogenesis|UTP biosynthetic process	cytoplasm|microtubule cytoskeleton	ATP binding|nucleoside diphosphate kinase activity			ovary(1)|breast(1)|central_nervous_system(1)	3						CTAAGTTCATGGATGCTTTCT	0.353		NA							Kartagener_syndrome				7	72					0	0	0	0
HEPACAM2	253012	broad.mit.edu	37	7	92838082	92838082	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr7:92838082G>T	uc003umm.2	-	4	846	c.823C>A	c.(823-825)CAT>AAT	p.H275N	HEPACAM2_uc003uml.2_Missense_Mutation_p.H263N|HEPACAM2_uc010lff.2_Missense_Mutation_p.H263N|HEPACAM2_uc011khy.1_Missense_Mutation_p.H298N	NM_001039372	NP_001034461	A8MVW5	HECA2_HUMAN	HEPACAM family member 2 isoform 1	275	Ig-like C2-type 2.|Extracellular (Potential).					integral to membrane				ovary(3)|breast(1)|kidney(1)	5						TTGGGGGGATGAGAATCAGCA	0.433		NA											18	412					2e-07	2.22e-07	1	0
TRRAP	8295	broad.mit.edu	37	7	98608706	98608706	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr7:98608706G>A	uc003upp.2	+	70	11137	c.10928G>A	c.(10927-10929)AGT>AAT	p.S3643N	TRRAP_uc011kis.1_Missense_Mutation_p.S3614N|TRRAP_uc003upr.2_Missense_Mutation_p.S3349N|TRRAP_uc003ups.2_5'Flank	NM_003496	NP_003487	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated	3643	PI3K/PI4K.				histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			ovary(9)|large_intestine(8)|central_nervous_system(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(1)|lung(1)|liver(1)	37	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			GAGGTTCAGAGTAACATGGTG	0.527		NA											24	50					0	0	0	0
TAF6	6878	broad.mit.edu	37	7	99707583	99707583	+	Silent	SNP	C	C	T	rs145206628		TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr7:99707583C>T	uc003uti.2	-	12	1353	c.1272G>A	c.(1270-1272)CAG>CAA	p.Q424Q	AP4M1_uc003utd.2_Intron|TAF6_uc003utg.2_Silent_p.Q346Q|TAF6_uc003uth.2_Silent_p.Q481Q|TAF6_uc003utk.2_Silent_p.Q424Q|TAF6_uc011kji.1_Silent_p.Q461Q|TAF6_uc003utj.2_Silent_p.Q414Q|TAF6_uc003utl.2_Silent_p.Q424Q|TAF6_uc003utm.2_Silent_p.Q424Q	NM_139315	NP_647476	P49848	TAF6_HUMAN	TBP-associated factor 6 isoform alpha	424					negative regulation of cell cycle|negative regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			ovary(1)|central_nervous_system(1)	2	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GCAGGAGGCTCTGCACATGGT	0.572		NA											19	166					0	0	0	0
TAF6	6878	broad.mit.edu	37	7	99711299	99711299	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr7:99711299C>T	uc003uti.2	-	4	418	c.337G>A	c.(337-339)GAT>AAT	p.D113N	TAF6_uc003utg.2_Missense_Mutation_p.D54N|TAF6_uc003uth.2_Missense_Mutation_p.D170N|TAF6_uc003utk.2_Missense_Mutation_p.D113N|TAF6_uc011kji.1_Missense_Mutation_p.D150N|TAF6_uc003utj.2_Missense_Mutation_p.D103N|TAF6_uc003utl.2_Missense_Mutation_p.D113N|TAF6_uc003utm.2_Missense_Mutation_p.D113N|TAF6_uc003utn.1_Intron	NM_139315	NP_647476	P49848	TAF6_HUMAN	TBP-associated factor 6 isoform alpha	113					negative regulation of cell cycle|negative regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			ovary(1)|central_nervous_system(1)	2	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TCGCTCAGATCAACCTCCTTC	0.607		NA											24	177					0	0	0	0
TAF6	6878	broad.mit.edu	37	7	99711569	99711569	+	Silent	SNP	C	C	T			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr7:99711569C>T	uc003uti.2	-	3	246	c.165G>A	c.(163-165)TTG>TTA	p.L55L	TAF6_uc003utg.2_5'UTR|TAF6_uc003uth.2_Silent_p.L112L|TAF6_uc003utk.2_Silent_p.L55L|TAF6_uc011kji.1_Silent_p.L92L|TAF6_uc003utj.2_Silent_p.L45L|TAF6_uc003utl.2_Silent_p.L55L|TAF6_uc003utm.2_Silent_p.L55L|TAF6_uc003utn.1_RNA	NM_139315	NP_647476	P49848	TAF6_HUMAN	TBP-associated factor 6 isoform alpha	55					negative regulation of cell cycle|negative regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			ovary(1)|central_nervous_system(1)	2	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GCATGAACTTCAAGGCATCCT	0.557		NA											19	117					0	0	0	0
TAF6	6878	broad.mit.edu	37	7	99711749	99711749	+	Silent	SNP	G	G	A			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr7:99711749G>A	uc003uti.2	-	2	165	c.84C>T	c.(82-84)ATC>ATT	p.I28I	TAF6_uc003utg.2_5'Flank|TAF6_uc003uth.2_Silent_p.I85I|TAF6_uc003utk.2_Silent_p.I28I|TAF6_uc011kji.1_Silent_p.I65I|TAF6_uc003utj.2_Silent_p.I28I|TAF6_uc003utl.2_Silent_p.I28I|TAF6_uc003utm.2_Silent_p.I28I|TAF6_uc003utn.1_RNA	NM_139315	NP_647476	P49848	TAF6_HUMAN	TBP-associated factor 6 isoform alpha	28					negative regulation of cell cycle|negative regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			ovary(1)|central_nervous_system(1)	2	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GAATCTGGGCGATGCCCATGG	0.567		NA											31	173					0	0	0	0
TAF6	6878	broad.mit.edu	37	7	99711776	99711776	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr7:99711776C>T	uc003uti.2	-	2	138	c.57G>A	c.(55-57)ATG>ATA	p.M19I	TAF6_uc003utg.2_5'Flank|TAF6_uc003uth.2_Missense_Mutation_p.M76I|TAF6_uc003utk.2_Missense_Mutation_p.M19I|TAF6_uc011kji.1_Missense_Mutation_p.M56I|TAF6_uc003utj.2_Missense_Mutation_p.M19I|TAF6_uc003utl.2_Missense_Mutation_p.M19I|TAF6_uc003utm.2_Missense_Mutation_p.M19I|TAF6_uc003utn.1_RNA	NM_139315	NP_647476	P49848	TAF6_HUMAN	TBP-associated factor 6 isoform alpha	19					negative regulation of cell cycle|negative regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			ovary(1)|central_nervous_system(1)	2	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CCACCACCTTCATGGACTCCG	0.572		NA											29	181					0	0	0	0
RELN	5649	broad.mit.edu	37	7	103191542	103191542	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr7:103191542C>T	uc003vca.2	-	41	6434	c.6274G>A	c.(6274-6276)GTG>ATG	p.V2092M	RELN_uc010liz.2_Missense_Mutation_p.V2092M	NM_005045	NP_005036	P78509	RELN_HUMAN	reelin isoform a	2092					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1)	19				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		CCAAAGTGCACGACCTCCCTC	0.552		NA											9	54					0	0	0	0
LAMB4	22798	broad.mit.edu	37	7	107710183	107710183	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr7:107710183T>A	uc010ljo.1	-	18	2356	c.2272A>T	c.(2272-2274)ATG>TTG	p.M758L	LAMB4_uc003vey.2_Missense_Mutation_p.M758L	NM_007356	NP_031382	A4D0S4	LAMB4_HUMAN	laminin, beta 4 precursor	758	Laminin IV type B.				cell adhesion	basement membrane				ovary(4)|breast(2)|large_intestine(1)|skin(1)	8						TTGGCAGACATGCTGATGATC	0.478		NA											36	148					0	0	0	0
ACTR3C	653857	broad.mit.edu	37	7	149981865	149981865	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr7:149981865C>T	uc003wgu.1	-	6	731	c.541G>A	c.(541-543)GAT>AAT	p.D181N		NM_001040135	NP_001035225	Q9C0K3	ARP3C_HUMAN	actin-related protein 3-beta isoform 2	181					regulation of actin filament polymerization	cytoskeleton	actin binding|ATP binding				0						CGCCGCACATCGATGGGGCAG	0.398		NA											6	45					0	0	0	0
GIMAP6	474344	broad.mit.edu	37	7	150325563	150325563	+	Silent	SNP	C	C	A			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr7:150325563C>A	uc003whn.2	-	3	547	c.123G>T	c.(121-123)CTG>CTT	p.L41L	GIMAP6_uc003whm.2_Intron	NM_024711	NP_078987	Q6P9H5	GIMA6_HUMAN	GTPase, IMAP family member 6	41							GTP binding			upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GAATGAGCCTCAGTCTCCTTG	0.517		NA											64	680					5.97e-29	6.9e-29	1	0
COL14A1	7373	broad.mit.edu	37	8	121228727	121228727	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr8:121228727G>A	uc003yox.2	+	14	2000	c.1735G>A	c.(1735-1737)GAG>AAG	p.E579K	COL14A1_uc003yoy.2_Missense_Mutation_p.E257K|COL14A1_uc010mde.1_Missense_Mutation_p.E257K	NM_021110	NP_066933	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1 precursor	579	Fibronectin type-III 4.				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			ovary(4)|kidney(4)|skin(2)|pancreas(1)|central_nervous_system(1)	12	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			TGAAATCAATGAGGTAAGTTC	0.284		NA											8	211					0	0	0	0
COL14A1	7373	broad.mit.edu	37	8	121243789	121243789	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr8:121243789G>A	uc003yox.2	+	19	2546	c.2281G>A	c.(2281-2283)GAT>AAT	p.D761N	COL14A1_uc003yoy.2_Missense_Mutation_p.D439N	NM_021110	NP_066933	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1 precursor	761	Fibronectin type-III 6.				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			ovary(4)|kidney(4)|skin(2)|pancreas(1)|central_nervous_system(1)	12	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			TTCTGACAGCGATGTGCAGCA	0.453		NA											10	121					0	0	0	0
MAPK15	225689	broad.mit.edu	37	8	144803252	144803252	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr8:144803252G>C	uc003yzj.2	+	10	1041	c.1000G>C	c.(1000-1002)GAG>CAG	p.E334Q		NM_139021	NP_620590	Q8TD08	MK15_HUMAN	mitogen-activated protein kinase 15	334					protein autophosphorylation	extracellular region	ATP binding|MAP kinase activity|SH3 domain binding			lung(2)	2	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			CTCTGTGCCTGAGTACCGCAG	0.652		NA											4	32					0	0	0	0
PLEC	5339	broad.mit.edu	37	8	144991144	144991144	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr8:144991144C>T	uc003zaf.1	-	32	13426	c.13256G>A	c.(13255-13257)GGC>GAC	p.G4419D	PLEC_uc003zab.1_Missense_Mutation_p.G4282D|PLEC_uc003zac.1_Missense_Mutation_p.G4286D|PLEC_uc003zad.2_Missense_Mutation_p.G4282D|PLEC_uc003zae.1_Missense_Mutation_p.G4250D|PLEC_uc003zag.1_Missense_Mutation_p.G4260D|PLEC_uc003zah.2_Missense_Mutation_p.G4268D|PLEC_uc003zaj.2_Missense_Mutation_p.G4309D	NM_201380	NP_958782	Q15149	PLEC_HUMAN	plectin isoform 1	4419	Globular 2.|Plectin 29.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle			large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9						GTCCAGGATGCCAGCCACGGG	0.672		NA											4	110					0	0	0	0
FREM1	158326	broad.mit.edu	37	9	14824903	14824903	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr9:14824903C>T	uc003zlm.2	-	11	2559	c.1969G>A	c.(1969-1971)GAG>AAG	p.E657K	FREM1_uc010mic.2_RNA	NM_144966	NP_659403	Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1 precursor	657	CSPG 4.				cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			ovary(2)|breast(2)|pancreas(1)	5				GBM - Glioblastoma multiforme(50;3.53e-06)		TAGGCCACCTCAGTTTCCTTG	0.408		NA											10	65					0	0	0	0
TMEM2	23670	broad.mit.edu	37	9	74365204	74365204	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr9:74365204G>A	uc011lsa.1	-	2	626	c.86C>T	c.(85-87)CCA>CTA	p.P29L	TMEM2_uc010mos.2_Missense_Mutation_p.P29L|TMEM2_uc011lsb.1_RNA	NM_013390	NP_037522	Q9UHN6	TMEM2_HUMAN	transmembrane protein 2 isoform a	29						integral to membrane				ovary(2)	2		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)		AACCTTCCCTGGAACATAGCC	0.517		NA											15	88					0	0	0	0
GDA	9615	broad.mit.edu	37	9	74828816	74828816	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr9:74828816C>T	uc004aiq.2	+	5	670	c.487C>T	c.(487-489)CGG>TGG	p.R163W	GDA_uc011lse.1_Missense_Mutation_p.R89W|GDA_uc011lsf.1_Missense_Mutation_p.R89W|GDA_uc004air.2_Missense_Mutation_p.R163W|GDA_uc010mow.1_RNA|GDA_uc004ais.2_Missense_Mutation_p.R121W|GDA_uc004ait.1_Missense_Mutation_p.R89W	NM_004293	NP_004284	Q9Y2T3	GUAD_HUMAN	guanine deaminase	163					nervous system development|purine base metabolic process|purine nucleotide catabolic process	cytosol	guanine deaminase activity|zinc ion binding			ovary(2)|central_nervous_system(2)|skin(1)	5		Myeloproliferative disorder(762;0.0122)		Lung(182;0.0583)		ATTTGGACAGCGGGCATTTGT	0.328		NA											14	55					0	0	0	0
RPS6KA3	6197	broad.mit.edu	37	X	20190890	20190890	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chrX:20190890C>T	uc004czu.2	-	15	1327	c.1327G>A	c.(1327-1329)GCT>ACT	p.A443T	RPS6KA3_uc011mjk.1_Missense_Mutation_p.A413T|RPS6KA3_uc004czv.2_Missense_Mutation_p.A430T|RPS6KA3_uc011mjl.1_Missense_Mutation_p.A414T|RPS6KA3_uc011mjm.1_Missense_Mutation_p.A415T	NM_004586	NP_004577	P51812	KS6A3_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide	443	Protein kinase 2.				axon guidance|central nervous system development|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|skeletal system development|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|caspase inhibitor activity|magnesium ion binding|protein serine/threonine kinase activity			central_nervous_system(4)|stomach(1)|ovary(1)|lung(1)|breast(1)	8						ATGTTTGTAGCTTTATGTATA	0.333		NA											11	33					0	0	0	0
CXorf21	80231	broad.mit.edu	37	X	30578442	30578442	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chrX:30578442C>G	uc004dcg.1	-	3	307	c.31G>C	c.(31-33)GAG>CAG	p.E11Q		NM_025159	NP_079435	Q9HAI6	CX021_HUMAN	hypothetical protein LOC80231	11										ovary(1)	1						TTCCAGTACTCAAGTCCACTG	0.418		NA											13	95					0	0	0	0
RPGR	6103	broad.mit.edu	37	X	38156556	38156556	+	Silent	SNP	G	G	T			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chrX:38156556G>T	uc004ded.1	-	11	1563	c.1395C>A	c.(1393-1395)CTC>CTA	p.L465L	RPGR_uc004deb.2_Silent_p.L465L|RPGR_uc004dea.2_RNA|RPGR_uc004dec.2_RNA|RPGR_uc004dee.1_Silent_p.L150L	NM_001034853	NP_001030025	Q92834	RPGR_HUMAN	retinitis pigmentosa GTPase regulator isoform C	465					intracellular protein transport|response to stimulus|visual perception	Golgi apparatus|photoreceptor outer segment	guanyl-nucleotide exchange factor activity|protein binding			ovary(1)	1						CTGGCTGCATGAGGTCCTGTT	0.418		NA											9	103					3.86e-05	4.24e-05	1	0
TEX13A	56157	broad.mit.edu	37	X	104464803	104464803	+	Silent	SNP	C	C	A			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chrX:104464803C>A	uc004ema.2	-	2	391	c.279G>T	c.(277-279)CTG>CTT	p.L93L	IL1RAPL2_uc004elz.1_Intron|TEX13A_uc004emb.2_Silent_p.L93L	NM_031274	NP_112564	Q9BXU3	TX13A_HUMAN	testis expressed sequence 13A	93						intracellular	zinc ion binding			ovary(2)	2						CGAAGCCGTGCAGCCACCGCA	0.632		NA											9	41					0.000274275	0.000296464	1	0
ATP11C	286410	broad.mit.edu	37	X	138880468	138880468	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chrX:138880468T>C	uc004faz.2	-	10	929	c.830A>G	c.(829-831)TAC>TGC	p.Y277C	ATP11C_uc004fay.2_5'Flank|ATP11C_uc004fba.2_Missense_Mutation_p.Y277C	NM_173694	NP_775965	Q8NB49	AT11C_HUMAN	ATPase, class VI, type 11C isoform a	277	Cytoplasmic (Potential).				ATP biosynthetic process	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			ovary(5)|large_intestine(3)	8	Acute lymphoblastic leukemia(192;0.000127)					TTTCCCTTGGTAGTTCAAAGC	0.338		NA											27	116					0	0	0	0
MYOF	26509	broad.mit.edu	37	10	95134520	95134521	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr10:95134520_95134521insT	uc001kin.2	-	23	2423_2424	c.2300_2301insA	c.(2299-2301)GAGfs	p.E767fs	MYOF_uc001kio.2_Frame_Shift_Ins_p.E754fs|MYOF_uc009xue.2_RNA	NM_013451	NP_038479	Q9NZM1	MYOF_HUMAN	myoferlin isoform a	767	Cytoplasmic (Potential).				blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding			ovary(3)|breast(1)	4						AAAGTCCTACCTCTTCAGTCAG	0.455		NA											14	136	---	---	---	---	NA	NA	NA	NA
SP1	6667	broad.mit.edu	37	12	53776257	53776258	+	Frame_Shift_Del	DEL	AT	AT	-			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr12:53776257_53776258delAT	uc001scw.2	+	3	623_624	c.526_527delAT	c.(526-528)ATCfs	p.I176fs	SP1_uc010sog.1_Frame_Shift_Del_p.I169fs	NM_138473	NP_612482	P08047	SP1_HUMAN	Sp1 transcription factor isoform a	176	Transactivation domain A (Gln-rich).				positive regulation by host of viral transcription|positive regulation of transcription from RNA polymerase II promoter	cytoplasm	double-stranded DNA binding|histone deacetylase binding|HMG box domain binding|protein C-terminus binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding			ovary(1)|breast(1)|skin(1)	3				BRCA - Breast invasive adenocarcinoma(357;0.00527)		GTATCAAGTAATCCCACAGTTC	0.515		NA											20	228	---	---	---	---	NA	NA	NA	NA
SRPK2	6733	broad.mit.edu	37	7	104782508	104782509	+	Frame_Shift_Ins	INS	-	-	A	rs56112661		TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chr7:104782508_104782509insA	uc003vct.2	-	10	1643_1644	c.1456_1457insT	c.(1456-1458)TCCfs	p.S486fs	SRPK2_uc003vcu.2_Frame_Shift_Ins_p.S486fs|SRPK2_uc003vcv.2_Frame_Shift_Ins_p.S497fs|SRPK2_uc003vcw.1_Frame_Shift_Ins_p.S486fs	NM_182691	NP_872633	P78362	SRPK2_HUMAN	serine/arginine-rich protein-specific kinase 2	486	Protein kinase.				angiogenesis|cell differentiation|intracellular protein kinase cascade|negative regulation of viral genome replication|nuclear speck organization|positive regulation of cell cycle|positive regulation of cell proliferation|positive regulation of gene expression|positive regulation of neuron apoptosis|positive regulation of viral genome replication|spliceosome assembly	cytoplasm|nucleolus	14-3-3 protein binding|ATP binding|magnesium ion binding|protein serine/threonine kinase activity			central_nervous_system(3)|ovary(2)|upper_aerodigestive_tract(1)	6						TCTGTCATGGGATGGACTGCTC	0.52		NA											29	131	---	---	---	---	NA	NA	NA	NA
GUCY2F	2986	broad.mit.edu	37	X	108619355	108619355	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CN-4740-01A-01D-1434-08	TCGA-CN-4740-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	40308868-8d79-484b-85a4-257142763d72	c3927691-3146-425b-90b5-efd060a18cb6	g.chrX:108619355delT	uc004eod.3	-	18	3468	c.3192delA	c.(3190-3192)AAAfs	p.K1064fs	GUCY2F_uc011msq.1_RNA	NM_001522	NP_001513	P51841	GUC2F_HUMAN	guanylate cyclase 2F precursor	1064	Cytoplasmic (Potential).				intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity			lung(4)|breast(3)|central_nervous_system(1)	8						TCATGAAGCCTTTTTTCCCAA	0.418		NA											7	539	---	---	---	---	NA	NA	NA	NA