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
RERE	473	broad.mit.edu	37	1	8425906	8425906	+	Silent	SNP	G	G	A			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr1:8425906G>A	uc001ape.2	-	14	2223	c.1413C>T	c.(1411-1413)GTC>GTT	p.V471V	RERE_uc001apf.2_Silent_p.V471V|RERE_uc010nzx.1_Silent_p.V203V|RERE_uc001apd.2_5'UTR	NM_012102	NP_036234	Q9P2R6	RERE_HUMAN	atrophin-1 like protein isoform a	471					multicellular organismal development|NLS-bearing substrate import into nucleus	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		AGGGTGTGTTGACGGGTGTGG	0.632		NA											4	63					0	0	0	0
MRTO4	51154	broad.mit.edu	37	1	19583616	19583616	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr1:19583616G>A	uc001bbs.2	+	4	505	c.250G>A	c.(250-252)GAA>AAA	p.E84K		NM_016183	NP_057267	Q9UKD2	MRT4_HUMAN	mRNA turnover 4 homolog	84					ribosome biogenesis	nuclear membrane|nucleolus					0		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.87e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|GBM - Glioblastoma multiforme(114;0.00301)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		CCCATCTGATGAATACAAAGA	0.537		NA											18	234					0	0	0	0
PHC2	1912	broad.mit.edu	37	1	33832909	33832909	+	Silent	SNP	G	G	A			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr1:33832909G>A	uc001bxg.1	-	6	838	c.784C>T	c.(784-786)CTG>TTG	p.L262L	PHC2_uc001bxh.1_Silent_p.L233L|PHC2_uc009vuh.1_Silent_p.L262L|PHC2_uc001bxi.1_Silent_p.L262L	NM_198040	NP_932157	Q8IXK0	PHC2_HUMAN	polyhomeotic-like 2 isoform a	262					multicellular organismal development	PcG protein complex	DNA binding|identical protein binding|zinc ion binding			ovary(1)	1		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				GGGGTAGGCAGAGGCTGGCTA	0.632		NA									OREG0013344	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	129					0	0	0	0
DNALI1	7802	broad.mit.edu	37	1	38027808	38027808	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr1:38027808G>A	uc001cbj.2	+	5	779	c.769G>A	c.(769-771)GAG>AAG	p.E257K	DNALI1_uc010oie.1_RNA	NM_003462	NP_003453	O14645	IDLC_HUMAN	dynein, axonemal, light intermediate chain 1	235	Potential.				cellular component movement|single fertilization	axonemal dynein complex	microtubule motor activity			large_intestine(1)|ovary(1)	2		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GCACAATGAGGAGATTCAGTT	0.587		NA											3	24					0	0	0	0
KDM4A	9682	broad.mit.edu	37	1	44169928	44169928	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr1:44169928G>A	uc001cjx.2	+	22	3248	c.3082G>A	c.(3082-3084)GAG>AAG	p.E1028K	uc001cjy.2_Intron|ST3GAL3_uc009vwu.1_5'Flank|KDM4A_uc010oki.1_3'UTR	NM_014663	NP_055478	O75164	KDM4A_HUMAN	jumonji domain containing 2A	1028					interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleolus	histone demethylase activity (H3-K36 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			skin(1)	1						GCGCTTCAATGAGATTTTCAC	0.438		NA											6	153					0	0	0	0
POMGNT1	55624	broad.mit.edu	37	1	46660524	46660524	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr1:46660524C>T	uc001cpe.2	-	7	808	c.644G>A	c.(643-645)CGA>CAA	p.R215Q	POMGNT1_uc010olx.1_Missense_Mutation_p.R193Q|POMGNT1_uc010oly.1_RNA|POMGNT1_uc010olz.1_Missense_Mutation_p.R72Q|POMGNT1_uc001cpg.2_Missense_Mutation_p.R215Q|POMGNT1_uc001cpf.2_Intron|POMGNT1_uc001cph.1_5'Flank|POMGNT1_uc001cpi.1_5'Flank	NM_017739	NP_060209	Q8WZA1	PMGT1_HUMAN	O-linked mannose	215	Lumenal (Potential).				protein N-linked glycosylation|protein O-linked glycosylation	Golgi membrane|integral to membrane|microsome	alpha-1,3-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity|beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity			ovary(1)	1	Acute lymphoblastic leukemia(166;0.155)					ACCTCCTTTTCGTCCCACGAA	0.617		NA											37	223					0	0	0	0
INADL	10207	broad.mit.edu	37	1	62235043	62235043	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr1:62235043G>A	uc001dab.2	+	5	587	c.473G>A	c.(472-474)GGA>GAA	p.G158E	INADL_uc009waf.1_Missense_Mutation_p.G158E|INADL_uc001daa.2_Missense_Mutation_p.G158E|INADL_uc001dad.3_5'Flank	NM_176877	NP_795352	Q8NI35	INADL_HUMAN	InaD-like	158	PDZ 1.				intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding			ovary(3)|skin(1)	4						CAAAATCTCGGAAAAGTTGAT	0.433		NA											8	70					0	0	0	0
DOCK7	85440	broad.mit.edu	37	1	63003606	63003606	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr1:63003606G>T	uc001daq.2	-	28	3461	c.3427C>A	c.(3427-3429)CCA>ACA	p.P1143T	DOCK7_uc001dan.2_Missense_Mutation_p.P1004T|DOCK7_uc001dao.2_Missense_Mutation_p.P1004T|DOCK7_uc001dap.2_Missense_Mutation_p.P1112T|DOCK7_uc001dam.2_Missense_Mutation_p.P323T|DOCK7_uc010oov.1_5'Flank	NM_033407	NP_212132	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	1143					activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation	axon|basal part of cell|growth cone	GTP binding|guanyl-nucleotide exchange factor activity|Rac GTPase binding			ovary(2)	2						GATGCAGGTGGAGTAAGTAAG	0.393		NA											5	47					0.000602214	0.000643995	1	0
ROR1	4919	broad.mit.edu	37	1	64643982	64643982	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr1:64643982C>G	uc001dbj.2	+	9	2657	c.2258C>G	c.(2257-2259)TCA>TGA	p.S753*	uc001dbm.2_5'Flank	NM_005012	NP_005003	Q01973	ROR1_HUMAN	receptor tyrosine kinase-like orphan receptor 1	753	Ser/Thr-rich.|Cytoplasmic (Potential).				transmembrane receptor protein tyrosine kinase signaling pathway	cytoplasm|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding			ovary(6)|large_intestine(3)|breast(3)|stomach(2)|lung(2)|central_nervous_system(1)|skin(1)|kidney(1)	19						GAGGGACTCTCAAGTCACACA	0.498		NA											5	67					0	0	0	0
RAVER2	55225	broad.mit.edu	37	1	65278428	65278428	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr1:65278428C>G	uc001dbs.1	+	10	1727	c.1649C>G	c.(1648-1650)TCT>TGT	p.S550C	RAVER2_uc001dbt.1_Missense_Mutation_p.S442C|RAVER2_uc010opb.1_Intron	NM_018211	NP_060681	Q9HCJ3	RAVR2_HUMAN	ribonucleoprotein, PTB-binding 2	563						cytoplasm|nucleus	nucleotide binding|RNA binding			large_intestine(1)	1						TAGGCTGCCTCTAAGAATCAA	0.348		NA											4	41					0	0	0	0
COL11A1	1301	broad.mit.edu	37	1	103471837	103471837	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr1:103471837G>A	uc001dul.2	-	16	2036	c.1718C>T	c.(1717-1719)ACG>ATG	p.T573M	COL11A1_uc001duk.2_Translation_Start_Site|COL11A1_uc001dum.2_Missense_Mutation_p.T585M|COL11A1_uc001dun.2_Missense_Mutation_p.T534M|COL11A1_uc009weh.2_Missense_Mutation_p.T457M	NM_001854	NP_001845	P12107	COBA1_HUMAN	alpha 1 type XI collagen isoform A	573	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	12		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		AGGTTTTCCCGTTGGACCAGG	0.348		NA											11	63					0	0	0	0
NOTCH2	4853	broad.mit.edu	37	1	120480557	120480557	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr1:120480557C>T	uc001eik.2	-	20	3516	c.3260G>A	c.(3259-3261)TGC>TAC	p.C1087Y	NOTCH2_uc001eil.2_Missense_Mutation_p.C1087Y	NM_024408	NP_077719	Q04721	NOTC2_HUMAN	notch 2 preproprotein	1087	EGF-like 28.|Extracellular (Potential).				anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity			lung(8)|haematopoietic_and_lymphoid_tissue(7)|ovary(4)|central_nervous_system(2)|skin(2)|kidney(2)|breast(1)|prostate(1)	27	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		TGGACATAGGCACTGGGACTC	0.517		NA	N|F|Mis		marginal zone lymphoma|DLBCL				Alagille_Syndrome				10	47					0	0	0	0
NOTCH2	4853	broad.mit.edu	37	1	120548096	120548096	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr1:120548096G>A	uc001eik.2	-	3	527	c.271C>T	c.(271-273)CGA>TGA	p.R91*	NOTCH2_uc001eil.2_Nonsense_Mutation_p.R91*|NOTCH2_uc001eim.3_Nonsense_Mutation_p.R8*	NM_024408	NP_077719	Q04721	NOTC2_HUMAN	notch 2 preproprotein	91	Extracellular (Potential).|EGF-like 2.				anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity			lung(8)|haematopoietic_and_lymphoid_tissue(7)|ovary(4)|central_nervous_system(2)|skin(2)|kidney(2)|breast(1)|prostate(1)	27	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		GAGGCACATCGGCACGTGGCT	0.557		NA	N|F|Mis		marginal zone lymphoma|DLBCL				Alagille_Syndrome				10	112					0	0	0	0
RPS27	6232	broad.mit.edu	37	1	153964115	153964115	+	Silent	SNP	C	C	G			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr1:153964115C>G	uc001fdv.2	+	3	223	c.189C>G	c.(187-189)CTC>CTG	p.L63L		NM_001030	NP_001021	P42677	RS27_HUMAN	ribosomal protein S27	63					cell proliferation|endocrine pancreas development|mitotic prometaphase|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit|nucleus	DNA binding|structural constituent of ribosome|zinc ion binding				0	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			CCACTGTCCTCTGCCAGCCTA	0.398		NA											5	51					0	0	0	0
CRABP2	1382	broad.mit.edu	37	1	156670736	156670736	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr1:156670736C>T	uc001fpr.2	-	2	316	c.179G>A	c.(178-180)CGC>CAC	p.R60H		NM_001878	NP_001869	P29373	RABP2_HUMAN	cellular retinoic acid binding protein 2	60					epidermis development|regulation of transcription, DNA-dependent|signal transduction	cytoplasm|nucleus	retinal binding|retinol binding|transporter activity	p.R60C(1)		upper_aerodigestive_tract(1)	1	all_hematologic(923;0.088)|Hepatocellular(266;0.158)				Alitretinoin(DB00523)	CTCTGTGGTGCGCACGGTGGT	0.552		NA											4	96					0	0	0	0
CNTN2	6900	broad.mit.edu	37	1	205039123	205039123	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr1:205039123C>T	uc001hbr.2	+	18	2634	c.2365C>T	c.(2365-2367)CGC>TGC	p.R789C	CNTN2_uc001hbq.1_Missense_Mutation_p.R680C|CNTN2_uc001hbs.2_Missense_Mutation_p.R577C	NM_005076	NP_005067	Q02246	CNTN2_HUMAN	contactin 2 precursor	789	Fibronectin type-III 2.				axon guidance|clustering of voltage-gated potassium channels	anchored to membrane|juxtaparanode region of axon|myelin sheath|node of Ranvier|synapse part	identical protein binding			ovary(1)	1	all_cancers(21;0.144)|Breast(84;0.0437)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			GGTCAAGATCCGCAGCTACAA	0.662		NA											9	71					0	0	0	0
ESRRG	2104	broad.mit.edu	37	1	216680464	216680464	+	Silent	SNP	C	C	A			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr1:216680464C>A	uc001hkw.1	-	7	1360	c.1194G>T	c.(1192-1194)GCG>GCT	p.A398A	ESRRG_uc001hky.1_Silent_p.A375A|ESRRG_uc009xdp.1_Silent_p.A375A|ESRRG_uc001hkz.1_Silent_p.A336A|ESRRG_uc010puc.1_Silent_p.A375A|ESRRG_uc001hla.1_Silent_p.A375A|ESRRG_uc001hlb.1_Silent_p.A375A|ESRRG_uc010pud.1_Silent_p.A206A|ESRRG_uc001hlc.1_Silent_p.A375A|ESRRG_uc001hld.1_Silent_p.A375A|ESRRG_uc001hkx.1_Silent_p.A410A|ESRRG_uc009xdo.1_Silent_p.A375A	NM_001438	NP_001429	P62508	ERR3_HUMAN	estrogen-related receptor gamma isoform 1	398					positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	AF-2 domain binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			ovary(1)|kidney(1)	2				OV - Ovarian serous cystadenocarcinoma(81;0.0358)|all cancers(67;0.0693)|GBM - Glioblastoma multiforme(131;0.0713)	Diethylstilbestrol(DB00255)	AATCCTGCAGCGCTTCATGTA	0.478		NA											11	63					2.27e-07	2.48e-07	1	0
CDC42BPA	8476	broad.mit.edu	37	1	227300480	227300480	+	Silent	SNP	C	C	T			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr1:227300480C>T	uc001hqr.2	-	13	2725	c.1782G>A	c.(1780-1782)CAG>CAA	p.Q594Q	CDC42BPA_uc001hqs.2_Intron|CDC42BPA_uc009xes.2_Silent_p.Q594Q|CDC42BPA_uc010pvs.1_Silent_p.Q594Q	NM_003607	NP_003598	Q5VT25	MRCKA_HUMAN	CDC42-binding protein kinase alpha isoform B	594	Potential.				actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm	ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			lung(6)|breast(2)|stomach(1)|ovary(1)|pancreas(1)	11		all_cancers(173;0.156)|Prostate(94;0.0792)				GAGCAAGTTTCTGTTTTTGGG	0.468		NA											16	210					0	0	0	0
DISC1	27185	broad.mit.edu	37	1	231830190	231830190	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr1:231830190G>A	uc001huz.2	+	2	739	c.686G>A	c.(685-687)TGC>TAC	p.C229Y	TSNAX-DISC1_uc010pwe.1_Missense_Mutation_p.C184Y|TSNAX-DISC1_uc010pwf.1_Missense_Mutation_p.C184Y|TSNAX-DISC1_uc010pwg.1_Missense_Mutation_p.C218Y|TSNAX-DISC1_uc010pwh.1_Missense_Mutation_p.C184Y|TSNAX-DISC1_uc010pwi.1_Missense_Mutation_p.C184Y|TSNAX-DISC1_uc010pwj.1_Missense_Mutation_p.C218Y|TSNAX-DISC1_uc010pwk.1_Missense_Mutation_p.C218Y|TSNAX-DISC1_uc010pwl.1_RNA|DISC1_uc010pwo.1_Missense_Mutation_p.C229Y|DISC1_uc010pwp.1_Missense_Mutation_p.C229Y|DISC1_uc010pwq.1_Missense_Mutation_p.C229Y|DISC1_uc010pwr.1_Missense_Mutation_p.C229Y|DISC1_uc010pws.1_Missense_Mutation_p.C229Y|DISC1_uc010pwt.1_Missense_Mutation_p.C229Y|DISC1_uc010pwu.1_Intron|DISC1_uc010pwv.1_RNA|DISC1_uc010pww.1_Missense_Mutation_p.C229Y|DISC1_uc010pwx.1_RNA|DISC1_uc010pwy.1_RNA|DISC1_uc010pwz.1_RNA|DISC1_uc010pxa.1_RNA|DISC1_uc001huy.2_Missense_Mutation_p.C229Y|DISC1_uc010pxb.1_Missense_Mutation_p.C229Y|DISC1_uc010pxc.1_Missense_Mutation_p.C229Y|DISC1_uc010pxd.1_5'UTR|DISC1_uc010pxe.1_Missense_Mutation_p.C229Y|DISC1_uc009xfr.2_Missense_Mutation_p.C184Y|DISC1_uc010pxf.1_Missense_Mutation_p.C229Y|DISC1_uc010pxg.1_Missense_Mutation_p.C229Y|DISC1_uc010pxh.1_Missense_Mutation_p.C229Y|DISC1_uc010pxi.1_RNA|DISC1_uc010pxj.1_5'UTR|DISC1_uc010pxk.1_RNA|DISC1_uc010pxl.1_RNA|DISC1_uc010pxm.1_Missense_Mutation_p.C229Y|DISC1_uc010pxn.1_5'UTR|DISC1_uc001hva.2_Missense_Mutation_p.C229Y|DISC1_uc010pwm.1_Missense_Mutation_p.C229Y|DISC1_uc001hux.1_Missense_Mutation_p.C229Y|DISC1_uc001hvc.3_Missense_Mutation_p.C229Y|DISC1_uc010pwn.1_Missense_Mutation_p.C229Y	NM_018662	NP_061132	Q9NRI5	DISC1_HUMAN	disrupted in schizophrenia 1 isoform L	229	Interaction with MAP1A.				microtubule cytoskeleton organization|neuron migration|positive regulation of neuroblast proliferation|positive regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	centrosome|microtubule	protein binding			skin(1)	1		all_cancers(173;0.0208)|Prostate(94;0.0975)				GCAGAAGGCTGCCCACCATCC	0.617		NA											9	58					0	0	0	0
KIF26B	55083	broad.mit.edu	37	1	245850124	245850124	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr1:245850124C>T	uc001ibf.1	+	12	4279	c.3839C>T	c.(3838-3840)TCC>TTC	p.S1280F	KIF26B_uc001ibg.1_Missense_Mutation_p.S898F|KIF26B_uc001ibh.1_Missense_Mutation_p.S522F	NM_018012	NP_060482	Q2KJY2	KI26B_HUMAN	kinesin family member 26B	1280					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(3)	3	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			TCCATCAGCTCCTGGCTGAGC	0.612		NA											4	36					0	0	0	0
GTPBP4	23560	broad.mit.edu	37	10	1061734	1061734	+	Silent	SNP	T	T	C			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr10:1061734T>C	uc001ift.2	+	16	1721	c.1650T>C	c.(1648-1650)ACT>ACC	p.T550T	GTPBP4_uc001ifu.2_RNA|GTPBP4_uc010qad.1_Silent_p.T434T|GTPBP4_uc010qae.1_Silent_p.T503T	NM_012341	NP_036473	Q9BZE4	NOG1_HUMAN	G protein-binding protein CRFG	550					negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of cell-cell adhesion|negative regulation of collagen binding|negative regulation of DNA replication|negative regulation of protein ubiquitination|protein stabilization|regulation of cyclin-dependent protein kinase activity|ribosome biogenesis	nucleolus|perinuclear region of cytoplasm	GTP binding|GTPase activity|protein binding			ovary(1)|skin(1)	2		all_epithelial(10;0.107)|Colorectal(49;0.14)	OV - Ovarian serous cystadenocarcinoma(33;0.0814)	Epithelial(11;0.0513)|all cancers(11;0.135)|OV - Ovarian serous cystadenocarcinoma(14;0.173)		GGAGCATCACTAGGAAAAGAA	0.507		NA											10	93					0	0	0	0
USP6NL	9712	broad.mit.edu	37	10	11567452	11567452	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr10:11567452C>T	uc001ikt.3	-	4	409	c.88G>A	c.(88-90)GAG>AAG	p.E30K	USP6NL_uc001iks.1_Missense_Mutation_p.E47K	NM_014688	NP_055503	Q92738	US6NL_HUMAN	USP6 N-terminal like isoform 1	30						intracellular	Rab GTPase activator activity				0						GGTTCAATCTCTGCACCTTCT	0.328		NA											9	67					0	0	0	0
CUBN	8029	broad.mit.edu	37	10	16994286	16994286	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr10:16994286G>A	uc001ioo.2	-	33	5010	c.4958C>T	c.(4957-4959)GCG>GTG	p.A1653V		NM_001081	NP_001072	O60494	CUBN_HUMAN	cubilin precursor	1653	CUB 11.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1)	19					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TGGAGGTTGCGCTTGAATGAT	0.458		NA											10	91					0	0	0	0
BMI1	648	broad.mit.edu	37	10	22618452	22618452	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr10:22618452C>T	uc001irh.2	+	10	1601	c.962C>T	c.(961-963)TCA>TTA	p.S321L	BMI1_uc009xkg.2_Missense_Mutation_p.S464L	NM_005180	NP_005171	P35226	BMI1_HUMAN	BMI1 polycomb ring finger oncogene	321	Pro/Ser-rich.				hemopoiesis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of fibroblast proliferation|positive regulation of ubiquitin-protein ligase activity|segment specification|transcription, DNA-dependent	cytoplasm|nucleolus|PcG protein complex|ubiquitin ligase complex	RING-like zinc finger domain binding|zinc ion binding			ovary(1)|skin(1)	2						AATGGGTCATCAGCAACTTCT	0.393		NA											8	79					0	0	0	0
KIF5B	3799	broad.mit.edu	37	10	32329358	32329359	+	Nonsense_Mutation	DNP	AT	AT	TA			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr10:32329358_32329359AT>TA	uc001iwe.3	-	3	711_712	c.241_242AT>TA	c.(241-243)ATA>TAA	p.I81*		NM_004521	NP_004512	P33176	KINH_HUMAN	kinesin family member 5B	81	Kinesin-motor.				stress granule disassembly|vesicle transport along microtubule	kinesin complex|microtubule|perinuclear region of cytoplasm|vesicle	ATP binding|microtubule binding|microtubule motor activity		KIF5B/ALK(4)	lung(4)|ovary(1)	5		Prostate(175;0.0137)				ATATGCAAATATTGTTCCATTA	0.332		NA											5	34					0	0	0	0
KIF5B	3799	broad.mit.edu	37	10	32329361	32329361	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr10:32329361G>A	uc001iwe.3	-	3	709	c.239C>T	c.(238-240)ACA>ATA	p.T80I		NM_004521	NP_004512	P33176	KINH_HUMAN	kinesin family member 5B	80	Kinesin-motor.				stress granule disassembly|vesicle transport along microtubule	kinesin complex|microtubule|perinuclear region of cytoplasm|vesicle	ATP binding|microtubule binding|microtubule motor activity		KIF5B/ALK(4)	lung(4)|ovary(1)	5		Prostate(175;0.0137)				TGCAAATATTGTTCCATTATA	0.333		NA											4	34					0	0	0	0
RBP3	5949	broad.mit.edu	37	10	48387946	48387946	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr10:48387946C>G	uc001jez.2	-	1	3046	c.2932G>C	c.(2932-2934)GAA>CAA	p.E978Q		NM_002900	NP_002891	P10745	RET3_HUMAN	retinol-binding protein 3 precursor	978	4 X approximate tandem repeats.|4.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity			large_intestine(1)|central_nervous_system(1)	2					Vitamin A(DB00162)	AGGGCCACTTCTGAGGTCACC	0.617		NA											6	91					0	0	0	0
RBP3	5949	broad.mit.edu	37	10	48388901	48388901	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr10:48388901C>G	uc001jez.2	-	1	2091	c.1977G>C	c.(1975-1977)CAG>CAC	p.Q659H		NM_002900	NP_002891	P10745	RET3_HUMAN	retinol-binding protein 3 precursor	659	4 X approximate tandem repeats.|3.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity			large_intestine(1)|central_nervous_system(1)	2					Vitamin A(DB00162)	GGGCACTGGTCTGCCCCACGA	0.672		NA											4	37					0	0	0	0
GDF2	2658	broad.mit.edu	37	10	48414224	48414224	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr10:48414224A>G	uc001jfa.1	-	2	807	c.644T>C	c.(643-645)GTC>GCC	p.V215A		NM_016204	NP_057288	Q9UK05	GDF2_HUMAN	growth differentiation factor 2 precursor	215					activin receptor signaling pathway|BMP signaling pathway|cartilage development|cellular iron ion homeostasis|growth|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of DNA replication|negative regulation of endothelial cell proliferation|ossification|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity			ovary(2)|skin(1)	3						GTCGGACCGGACCCAGCGCTT	0.587		NA											9	103					0	0	0	0
OGDHL	55753	broad.mit.edu	37	10	50952758	50952758	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr10:50952758T>C	uc001jie.2	-	13	1812	c.1670A>G	c.(1669-1671)TAT>TGT	p.Y557C	OGDHL_uc009xog.2_Missense_Mutation_p.Y584C|OGDHL_uc010qgt.1_Missense_Mutation_p.Y500C|OGDHL_uc010qgu.1_Missense_Mutation_p.Y348C|OGDHL_uc009xoh.2_Missense_Mutation_p.Y348C	NM_018245	NP_060715	Q9ULD0	OGDHL_HUMAN	oxoglutarate dehydrogenase-like isoform a	557					glycolysis	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			pancreas(1)	1						GGACCTGCCATAAGCCTCCTC	0.547		NA											6	56					0	0	0	0
BLOC1S2	282991	broad.mit.edu	37	10	102039977	102039977	+	Silent	SNP	G	G	A			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr10:102039977G>A	uc001kqw.1	-	4	324	c.301C>T	c.(301-303)CTG>TTG	p.L101L	BLOC1S2_uc001kqv.1_Silent_p.L58L	NM_173809	NP_776170	Q6QNY1	BL1S2_HUMAN	biogenesis of lysosome-related organelles	101	Potential.				melanosome organization|microtubule nucleation|platelet dense granule organization|positive regulation of cell proliferation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of apoptosis	BLOC-1 complex|centrosome|gamma-tubulin complex|nucleus	gamma-tubulin binding|identical protein binding|protein C-terminus binding			ovary(1)	1		Colorectal(252;0.117)		Epithelial(162;2.44e-10)|all cancers(201;1.97e-08)		TAAGGCTGCAGTCCAGCATCT	0.363		NA											3	59					0	0	0	0
NFKB2	4791	broad.mit.edu	37	10	104157126	104157126	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr10:104157126C>T	uc001kvb.2	+	7	728	c.463C>T	c.(463-465)CAG>TAG	p.Q155*	NFKB2_uc001kva.2_Nonsense_Mutation_p.Q155*|NFKB2_uc010qqk.1_Nonsense_Mutation_p.Q155*|NFKB2_uc001kvd.2_Nonsense_Mutation_p.Q155*|NFKB2_uc009xxc.2_Nonsense_Mutation_p.Q155*	NM_001077494	NP_001070962	Q00653	NFKB2_HUMAN	nuclear factor of kappa light polypeptide gene	155	RHD.				innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|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	Bcl3/NF-kappaB2 complex|cytosol|nucleoplasm	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			lung(3)	3		Colorectal(252;0.00957)		Epithelial(162;3.4e-08)|all cancers(201;6.41e-07)		ACAAAAACTTCAGAGGCAGCG	0.572		NA	T	IGH@	B-NHL								4	121					0	0	0	0
PSD	5662	broad.mit.edu	37	10	104163637	104163637	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr10:104163637C>T	uc001kvg.1	-	16	3333	c.2806G>A	c.(2806-2808)GAA>AAA	p.E936K	PSD_uc001kve.1_Missense_Mutation_p.E143K|PSD_uc001kvf.1_Missense_Mutation_p.E305K|PSD_uc001kvh.1_Missense_Mutation_p.E557K|PSD_uc009xxd.1_Missense_Mutation_p.E936K	NM_002779	NP_002770	A5PKW4	PSD1_HUMAN	pleckstrin and Sec7 domain containing	936					regulation of ARF protein signal transduction	cytoplasm|plasma membrane|ruffle	ARF guanyl-nucleotide exchange factor activity|signal transducer activity			breast(2)|urinary_tract(1)	3				Epithelial(162;1.27e-08)|all cancers(201;2.85e-07)		CGCTGCTCTTCAGCCTCCTTG	0.662		NA											4	17					0	0	0	0
CUZD1	50624	broad.mit.edu	37	10	124596554	124596554	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr10:124596554C>T	uc001lgq.2	-	5	942	c.610G>A	c.(610-612)GAC>AAC	p.D204N	CUZD1_uc001lgp.2_5'UTR|CUZD1_uc009yad.2_5'UTR|CUZD1_uc009yaf.2_Intron|CUZD1_uc001lgr.2_5'UTR|CUZD1_uc010qty.1_Intron|CUZD1_uc009yae.2_Intron|CUZD1_uc001lgs.2_Missense_Mutation_p.D204N|CUZD1_uc010qtz.1_Missense_Mutation_p.D204N	NM_022034	NP_071317	Q86UP6	CUZD1_HUMAN	CUB and zona pellucida-like domains 1 precursor	204	Extracellular (Potential).|CUB 2.				cell cycle|cell division|cell proliferation|substrate-dependent cell migration, cell attachment to substrate|trypsinogen activation	integral to membrane|transport vesicle membrane|zymogen granule membrane				ovary(1)|skin(1)	2		all_neural(114;0.169)|Glioma(114;0.222)		Colorectal(40;0.126)|COAD - Colon adenocarcinoma(40;0.141)		CACTGTTTGTCTATTTCTAGG	0.428		NA											10	20					0	0	0	0
GPR26	2849	broad.mit.edu	37	10	125426416	125426416	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr10:125426416G>A	uc001lhh.2	+	1	546	c.493G>A	c.(493-495)GAG>AAG	p.E165K		NM_153442	NP_703143	Q8NDV2	GPR26_HUMAN	G protein-coupled receptor 26	165	Extracellular (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			skin(1)	1		Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)				GCGGCCAGACGAGCGCCTGCG	0.677		NA											6	23					0	0	0	0
PTPRE	5791	broad.mit.edu	37	10	129839247	129839247	+	Silent	SNP	G	G	A			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr10:129839247G>A	uc001lkb.2	+	3	381	c.102G>A	c.(100-102)ACG>ACA	p.T34T	PTPRE_uc009yat.2_Silent_p.T45T|PTPRE_uc010qup.1_RNA|PTPRE_uc009yau.2_Silent_p.T34T|PTPRE_uc001lkc.1_RNA	NM_006504	NP_006495	P23469	PTPRE_HUMAN	protein tyrosine phosphatase, receptor type, E	34	Extracellular (Potential).				negative regulation of insulin receptor signaling pathway|protein phosphorylation	cytoplasm|integral to membrane|intermediate filament cytoskeleton|nucleus|plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			ovary(1)	1		all_epithelial(44;1.66e-05)|all_lung(145;0.00456)|Lung NSC(174;0.0066)|all_neural(114;0.0936)|Colorectal(57;0.141)|Breast(234;0.166)|Melanoma(40;0.203)				AGACAACCACGACCTCAGGTA	0.592		NA											3	28					0	0	0	0
MKI67	4288	broad.mit.edu	37	10	129914118	129914118	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr10:129914118G>A	uc001lke.2	-	7	749	c.554C>T	c.(553-555)TCA>TTA	p.S185L	MKI67_uc001lkf.2_Intron|MKI67_uc009yav.1_Intron|MKI67_uc009yaw.1_Intron	NM_002417	NP_002408	P46013	KI67_HUMAN	antigen identified by monoclonal antibody Ki-67	185					cell proliferation	nucleolus	ATP binding|protein C-terminus binding			ovary(4)|central_nervous_system(2)|skin(1)	7		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				AGCATGTTCTGAGGAATGAAC	0.413		NA											17	104					0	0	0	0
HRAS	3265	broad.mit.edu	37	11	534289	534289	+	Missense_Mutation	SNP	C	C	T	rs104894229		TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr11:534289C>T	uc001lpv.2	-	2	222	c.34G>A	c.(34-36)GGC>AGC	p.G12S	HRAS_uc010qvw.1_Missense_Mutation_p.G12S|HRAS_uc010qvx.1_Missense_Mutation_p.G12S|HRAS_uc010qvy.1_RNA	NM_005343	NP_005334	P01112	RASH_HUMAN	v-Ha-ras Harvey rat sarcoma viral oncogene	12	GTP.		G -> S (in FCSS, OSCC and CMEMS).|G -> E (in FCSS).|G -> C (in FCSS).|G -> A (in FCSS).		activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|Ras protein signal transduction|synaptic transmission	cytosol|Golgi membrane|plasma membrane	GTP binding|GTPase activity|protein C-terminus binding	p.G12V(250)|p.G12S(54)|p.G12D(39)|p.G12C(23)|p.G12R(12)|p.G12A(7)|p.G12_G13insAG(1)		urinary_tract(174)|thyroid(155)|skin(126)|upper_aerodigestive_tract(112)|soft_tissue(37)|prostate(29)|salivary_gland(24)|cervix(23)|stomach(14)|pituitary(10)|lung(9)|haematopoietic_and_lymphoid_tissue(9)|breast(6)|testis(5)|endometrium(4)|bone(3)|large_intestine(2)|oesophagus(2)|penis(2)|kidney(1)|adrenal_gland(1)|thymus(1)	749		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Sulindac(DB00605)	CCCACACCGCCGGCGCCCACC	0.647		6	Mis		infrequent sarcomas|rare other types	rhadomyosarcoma|ganglioneuroblastoma|bladder			Costello_syndrome	HNSCC(11;0.0054)			5	41					0	0	0	0
TNNI2	7136	broad.mit.edu	37	11	1862066	1862066	+	Silent	SNP	G	G	A			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr11:1862066G>A	uc010qxe.1	+	4	226	c.204G>A	c.(202-204)CTG>CTA	p.L68L	TNNI2_uc010qxc.1_Silent_p.L66L|TNNI2_uc010qxd.1_Silent_p.L66L	NM_001145841	NP_001139313	P48788	TNNI2_HUMAN	fast-twitch skeletal muscle troponin I isoform	68					muscle filament sliding|positive regulation of transcription, DNA-dependent|skeletal muscle contraction	cytosol|nucleus|troponin complex	actin binding|troponin T binding				0		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		GCAAACAGCTGCACGCCAAGA	0.597		NA											4	28					0	0	0	0
OR51A4	401666	broad.mit.edu	37	11	4967899	4967899	+	Silent	SNP	G	G	A			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr11:4967899G>A	uc010qys.1	-	1	432	c.432C>T	c.(430-432)GCC>GCT	p.A144A		NM_001005329	NP_001005329	Q8NGJ6	O51A4_HUMAN	olfactory receptor, family 51, subfamily A,	144	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|skin(1)	3		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		TCCCTATTTGGGCAACTCTGA	0.428		NA											32	179					0	0	0	0
OR51B2	79345	broad.mit.edu	37	11	5344774	5344774	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr11:5344774T>C	uc001mao.1	-	1	809	c.754A>G	c.(754-756)ACA>GCA	p.T252A	HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron	NM_033180	NP_149420	Q9Y5P1	O51B2_HUMAN	olfactory receptor, family 51, subfamily B,	252	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|skin(1)	3		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCCATCACTGTAACATAGAAG	0.388		NA											3	42					0	0	0	0
C11orf41	25758	broad.mit.edu	37	11	33581457	33581457	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr11:33581457C>T	uc001mup.3	+	6	3269	c.3145C>T	c.(3145-3147)CCA>TCA	p.P1049S	C11orf41_uc001mun.1_Missense_Mutation_p.P1049S	NM_012194	NP_036326	Q6ZVL6	CK041_HUMAN	hypothetical protein LOC25758	1043						integral to membrane				ovary(2)	2						CATTGCTGAACGTGAGTATGG	0.547		NA											9	197					0	0	0	0
GYLTL1B	120071	broad.mit.edu	37	11	45950273	45950273	+	Silent	SNP	C	C	G			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr11:45950273C>G	uc001nbv.1	+	14	2154	c.2043C>G	c.(2041-2043)ACC>ACG	p.T681T	GYLTL1B_uc001nbw.1_Silent_p.T650T|GYLTL1B_uc001nbx.1_Silent_p.T681T|GYLTL1B_uc001nby.1_Silent_p.T364T|GYLTL1B_uc001nbz.1_Missense_Mutation_p.P30R	NM_152312	NP_689525	Q8N3Y3	LARG2_HUMAN	glycosyltransferase-like 1B	681	Lumenal (Potential).				muscle cell homeostasis	Golgi membrane|integral to membrane	transferase activity, transferring glycosyl groups			ovary(2)|central_nervous_system(1)	3				GBM - Glioblastoma multiforme(35;0.226)		CCAGCCCCACCTATCGTGACT	0.637		NA											8	115					0	0	0	0
MADD	8567	broad.mit.edu	37	11	47317523	47317523	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr11:47317523G>A	uc001ner.1	+	24	3867	c.3676G>A	c.(3676-3678)GAG>AAG	p.E1226K	MADD_uc001neq.2_Missense_Mutation_p.E1188K|MADD_uc001nev.1_Missense_Mutation_p.E1145K|MADD_uc001nes.1_Missense_Mutation_p.E1165K|MADD_uc001net.1_Missense_Mutation_p.E1208K|MADD_uc009yln.1_Missense_Mutation_p.E1141K|MADD_uc001neu.1_Missense_Mutation_p.E1145K|MADD_uc001nex.2_Missense_Mutation_p.E1226K|MADD_uc001nez.2_Missense_Mutation_p.E1144K|MADD_uc001new.2_Missense_Mutation_p.E1187K|MADD_uc009ylo.2_Missense_Mutation_p.E140K	NM_003682	NP_003673	Q8WXG6	MADD_HUMAN	MAP-kinase activating death domain-containing	1226	Ser-rich.				activation of MAPK activity|apoptosis|cell surface receptor linked signaling pathway|regulation of apoptosis|regulation of cell cycle	cytoplasm|integral to membrane|plasma membrane	death receptor binding|protein kinase activator activity|Rab guanyl-nucleotide exchange factor activity			ovary(5)|skin(4)|central_nervous_system(2)	11				Lung(87;0.182)		ACCAGGTGGCGAGGGCAGTGT	0.483		NA											16	114					0	0	0	0
DDB1	1642	broad.mit.edu	37	11	61079299	61079299	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr11:61079299G>A	uc001nrc.3	-	18	2460	c.2234C>T	c.(2233-2235)ACG>ATG	p.T745M	DDB1_uc010rle.1_Intron|DDB1_uc010rlf.1_Missense_Mutation_p.T745M	NM_001923	NP_001914	Q16531	DDB1_HUMAN	damage-specific DNA binding protein 1	745	Interaction with CDT1.				cell cycle checkpoint|interspecies interaction between organisms|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|cytoplasm|nucleoplasm	damaged DNA binding|protein binding			ovary(2)|lung(1)|central_nervous_system(1)	4						GCCCCCACTCGTGTCTTGGAC	0.488		NA						NER					5	64					0	0	0	0
B3GAT3	26229	broad.mit.edu	37	11	62389338	62389338	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr11:62389338C>T	uc001ntw.2	-	1	111	c.82G>A	c.(82-84)GGC>AGC	p.G28S	B3GAT3_uc009ynz.2_Translation_Start_Site|B3GAT3_uc001ntx.2_Intron|B3GAT3_uc010rlz.1_Missense_Mutation_p.G28S	NM_012200	NP_036332	O94766	B3GA3_HUMAN	beta-1,3-glucuronyltransferase 3	28	Helical; Signal-anchor for type II membrane protein; (Potential).				glycosaminoglycan biosynthetic process	Golgi membrane|integral to membrane	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity|manganese ion binding				0						ccccgcTCACCGAGCTGTACC	0.388		NA											3	37					0	0	0	0
BSCL2	26580	broad.mit.edu	37	11	62457987	62457987	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr11:62457987C>A	uc001nuo.1	-	11	1473	c.1049G>T	c.(1048-1050)GGC>GTC	p.G350V	LRRN4CL_uc001nun.2_5'Flank|BSCL2_uc009yoc.1_3'UTR|BSCL2_uc001nup.2_Missense_Mutation_p.G350V|BSCL2_uc001nuq.1_Missense_Mutation_p.G350V|BSCL2_uc001nur.3_Missense_Mutation_p.G414V|BSCL2_uc009yod.2_Missense_Mutation_p.G414V|BSCL2_uc001nut.3_Missense_Mutation_p.G416V|HNRNPUL2_uc001nuu.1_RNA	NM_032667	NP_116056	Q96G97	BSCL2_HUMAN	seipin isoform 2	350	Cytoplasmic (Potential).				cell death	integral to endoplasmic reticulum membrane					0						TTCCCAGGAGCCTGAACCTGG	0.572		NA											3	41					0.004672	0.00492543	1	0
PPP1R14B	26472	broad.mit.edu	37	11	64012227	64012227	+	Silent	SNP	C	C	T			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr11:64012227C>T	uc001nza.2	-	4	711	c.443G>A	c.(442-444)TGA>TAA	p.*148*		NM_138689	NP_619634	Q96C90	PP14B_HUMAN	protein phosphatase 1 regulatory subunit 14B	148					regulation of phosphorylation	cytoplasm	protein phosphatase inhibitor activity				0						CGGGGACCGTCACTTCTTCTG	0.617		NA											5	47					0	0	0	0
CCDC87	55231	broad.mit.edu	37	11	66358522	66358522	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr11:66358522C>T	uc001oiq.3	-	1	2033	c.1965G>A	c.(1963-1965)TGG>TGA	p.W655*	CCS_uc001oir.2_5'Flank	NM_018219	NP_060689	Q9NVE4	CCD87_HUMAN	coiled-coil domain containing 87	655										ovary(1)|skin(1)	2						GCACAGTGTTCCAATCCCACT	0.542		NA											10	94					0	0	0	0
RBM4	5936	broad.mit.edu	37	11	66407347	66407347	+	Silent	SNP	G	G	A			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr11:66407347G>A	uc009yrj.2	+	2	653	c.165G>A	c.(163-165)CTG>CTA	p.L55L	RBM4_uc009yrk.2_Intron|RBM4_uc001oiv.2_Silent_p.L55L|RBM4_uc001oiw.1_Silent_p.L55L|RBM4_uc001oix.1_Silent_p.L55L|RBM4_uc010rpj.1_Silent_p.L55L|RBM4_uc001oiy.1_Silent_p.L55L|RBM4_uc001oiz.1_Silent_p.L55L	NM_002896	NP_002887	Q9BWF3	RBM4_HUMAN	RNA binding motif protein 4	55	RRM 1.				circadian regulation of gene expression|entrainment of circadian clock by photoperiod|mRNA processing|negative regulation of translation in response to stress|negative regulation of translation involved in gene silencing by miRNA|negative regulation of translational initiation|positive regulation of muscle cell differentiation|regulation of alternative nuclear mRNA splicing, via spliceosome|regulation of nucleocytoplasmic transport|RNA splicing|stress-activated MAPK cascade	nuclear speck|nucleolus|stress granule	miRNA binding|mRNA 3'-UTR binding|nucleotide binding|protein binding|zinc ion binding			ovary(1)	1				Lung(977;0.0112)|LUSC - Lung squamous cell carcinoma(976;0.0266)		TACGCAACCTGCACCATTACA	0.478		NA											20	168					0	0	0	0
ADRBK1	156	broad.mit.edu	37	11	67050604	67050604	+	Silent	SNP	G	G	A			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr11:67050604G>A	uc009yrn.1	+	15	1499	c.1233G>A	c.(1231-1233)GTG>GTA	p.V411V	ADRBK1_uc009yrm.1_Intron	NM_001619	NP_001610	P25098	ARBK1_HUMAN	beta-adrenergic receptor kinase 1	411	Protein kinase.				activation of phospholipase C activity|cardiac muscle contraction|desensitization of G-protein coupled receptor protein signaling pathway|muscarinic acetylcholine receptor signaling pathway|negative regulation of striated muscle contraction|negative regulation of the force of heart contraction by chemical signal|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|positive regulation of catecholamine secretion|tachykinin receptor signaling pathway	cytosol|soluble fraction	alpha-2A adrenergic receptor binding|ATP binding|beta-adrenergic receptor kinase activity|Edg-2 lysophosphatidic acid receptor binding|G-protein coupled receptor kinase activity|signal transducer activity			large_intestine(1)	1			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)		Adenosine triphosphate(DB00171)	TAAAGGCCGTGGAGCTGCCCG	0.647		NA											14	127					0	0	0	0
DNAJB13	374407	broad.mit.edu	37	11	73681032	73681032	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr11:73681032G>A	uc001ouo.2	+	8	1575	c.824G>A	c.(823-825)GGG>GAG	p.G275E		NM_153614	NP_705842	P59910	DJB13_HUMAN	testis spermatogenesis apoptosis-related protein	275					apoptosis|protein folding|spermatogenesis		heat shock protein binding|unfolded protein binding				0	Breast(11;7.42e-05)					AAGGTGCCAGGGGAGGGGATG	0.542		NA											10	162					0	0	0	0
NCAM1	4684	broad.mit.edu	37	11	113102481	113102481	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr11:113102481G>A	uc009yyq.1	+	11	1622	c.928G>A	c.(928-930)GGC>AGC	p.G310S		NM_001076682	NP_001070150	P13591	NCAM1_HUMAN	neural cell adhesion molecule 1 isoform 3	402	Ig-like C2-type 4.|Extracellular (Potential).				axon guidance|interferon-gamma-mediated signaling pathway	anchored to membrane|extracellular region|Golgi membrane|integral to membrane				ovary(1)	1		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)		CAACACCATCGGCCAGGACTC	0.582		NA											9	99					0	0	0	0
POU2F3	25833	broad.mit.edu	37	11	120170369	120170369	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr11:120170369C>A	uc001pxc.2	+	5	397	c.295C>A	c.(295-297)CTG>ATG	p.L99M	POU2F3_uc010rzk.1_Missense_Mutation_p.A37D|POU2F3_uc010rzl.1_Missense_Mutation_p.L29M	NM_014352	NP_055167	Q9UKI9	PO2F3_HUMAN	POU transcription factor	99					negative regulation by host of viral transcription	cytoplasm	sequence-specific DNA binding			ovary(1)|skin(1)	2		Breast(109;0.0011)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;6.85e-06)		GCAGCTTGTGCTGGTTCCCGG	0.552		NA									OREG0021419	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	66					0.00448238	0.0047367	1	0
ARID2	196528	broad.mit.edu	37	12	46245723	46245723	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr12:46245723C>T	uc001ros.1	+	15	3817	c.3817C>T	c.(3817-3819)CGA>TGA	p.R1273*	ARID2_uc001ror.2_Nonsense_Mutation_p.R1273*|ARID2_uc009zkg.1_Nonsense_Mutation_p.R729*|ARID2_uc009zkh.1_Nonsense_Mutation_p.R900*|ARID2_uc001rou.1_Nonsense_Mutation_p.R607*	NM_152641	NP_689854	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	1273					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			ovary(6)|skin(3)|upper_aerodigestive_tract(1)	10	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		GTCCTGCCGACGAGGAGCCAC	0.428		NA											5	55					0	0	0	0
TUBA1A	7846	broad.mit.edu	37	12	49580117	49580117	+	Silent	SNP	G	G	A			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr12:49580117G>A	uc009zlf.2	-	3	623	c.351C>T	c.(349-351)CTC>CTT	p.L117L	TUBA1B_uc001rto.2_Silent_p.L82L|TUBA1A_uc001rtp.2_Silent_p.L117L|TUBA1A_uc001rtq.2_Intron|TUBA1A_uc001rtr.2_5'UTR|TUBA1A_uc009zlg.2_5'UTR	NM_006009	NP_006000	Q71U36	TBA1A_HUMAN	tubulin, alpha 1a	117					'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|structural molecule activity				0						GGTCCAACACGAGGTCAATGA	0.413		NA											16	146					0	0	0	0
KRT5	3852	broad.mit.edu	37	12	52913991	52913991	+	Silent	SNP	G	G	A			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr12:52913991G>A	uc001san.2	-	1	253	c.90C>T	c.(88-90)ACC>ACT	p.T30T	KRT5_uc009zmh.2_Silent_p.T30T	NM_000424	NP_000415	P13647	K2C5_HUMAN	keratin 5	30	Head.				epidermis development|hemidesmosome assembly	cytosol|keratin filament	protein binding|structural constituent of cytoskeleton				0				BRCA - Breast invasive adenocarcinoma(357;0.189)		AGGTGAAGCTGGTGCGGGAGA	0.662		NA											3	53					0	0	0	0
OR6C75	390323	broad.mit.edu	37	12	55758919	55758919	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr12:55758919G>A	uc010spk.1	+	1	25	c.25G>A	c.(25-27)GAC>AAC	p.D9N		NM_001005497	NP_001005497	A6NL08	O6C75_HUMAN	olfactory receptor, family 6, subfamily C,	9	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|large_intestine(1)	3						AGCAGTAACAGACTTTATTCT	0.353		NA											4	123					0	0	0	0
EP400	57634	broad.mit.edu	37	12	132502171	132502171	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr12:132502171G>A	uc001ujn.2	+	19	4050	c.4015G>A	c.(4015-4017)GAG>AAG	p.E1339K	EP400_uc001ujl.2_Missense_Mutation_p.E1338K|EP400_uc001ujm.2_Missense_Mutation_p.E1339K	NM_015409	NP_056224	Q96L91	EP400_HUMAN	E1A binding protein p400	1375					histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			central_nervous_system(4)|ovary(3)|breast(3)|skin(2)	12	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		TGGGCTCGTCGAGCCCCGGCA	0.612		NA											7	65					0	0	0	0
PXMP2	5827	broad.mit.edu	37	12	133277837	133277837	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr12:133277837G>A	uc001ukt.2	+	4	466	c.401G>A	c.(400-402)GGG>GAG	p.G134E	PGAM5_uc010tbr.1_RNA	NM_018663	NP_061133	Q9NR77	PXMP2_HUMAN	peroxisomal membrane protein 2, 22kDa	134	Helical; (Potential).					integral to membrane|peroxisomal membrane	protein binding				0	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.86e-08)|Epithelial(86;2.47e-07)|all cancers(50;6.85e-06)		CCTTTGCAGGGGAAAGACGCC	0.572		NA											15	165					0	0	0	0
GOLGA3	2802	broad.mit.edu	37	12	133362956	133362956	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr12:133362956C>T	uc001ukz.1	-	15	3651	c.3092G>A	c.(3091-3093)GGT>GAT	p.G1031D	GOLGA3_uc001ula.1_Missense_Mutation_p.G1031D|GOLGA3_uc001ulb.2_Missense_Mutation_p.G1031D	NM_005895	NP_005886	Q08378	GOGA3_HUMAN	Golgi autoantigen, golgin subfamily a, 3	1031	Potential.				intra-Golgi vesicle-mediated transport	Golgi cisterna membrane|Golgi transport complex	protein binding|transporter activity			ovary(3)|central_nervous_system(2)|pancreas(1)	6	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)		ACTGCTGCCACCCTGGGCTCG	0.692		NA											5	41					0	0	0	0
NUPL1	9818	broad.mit.edu	37	13	25914137	25914137	+	Silent	SNP	C	C	T			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr13:25914137C>T	uc001uqi.2	+	16	1911	c.1665C>T	c.(1663-1665)TTC>TTT	p.F555F	NUPL1_uc001uqj.2_Silent_p.F543F	NM_014089	NP_054808	Q9BVL2	NUPL1_HUMAN	nucleoporin like 1 isoform a	555	14 X 2 AA repeats of F-G.				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear membrane|nuclear pore					0		Lung SC(185;0.0225)|Breast(139;0.0351)		all cancers(112;0.0092)|Epithelial(112;0.0477)|OV - Ovarian serous cystadenocarcinoma(117;0.165)|GBM - Glioblastoma multiforme(144;0.244)		GGTTTAACTTCAGCAATCCTG	0.418		NA											4	129					0	0	0	0
SLC46A3	283537	broad.mit.edu	37	13	29278221	29278221	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr13:29278221C>T	uc001usi.2	-	4	2130	c.1160G>A	c.(1159-1161)TGT>TAT	p.C387Y	SLC46A3_uc001usg.2_Missense_Mutation_p.C312Y|SLC46A3_uc001usj.2_Missense_Mutation_p.C387Y|SLC46A3_uc001ush.2_Missense_Mutation_p.C387Y	NM_181785	NP_861450	Q7Z3Q1	S46A3_HUMAN	solute carrier family 46, member 3 isoform a	387	Helical; (Potential).				transmembrane transport	integral to membrane				central_nervous_system(1)|skin(1)	2		Lung SC(185;0.0367)		all cancers(112;0.159)		GAAAGCAATACAAGCAAACAG	0.398		NA											5	70					0	0	0	0
STARD13	90627	broad.mit.edu	37	13	33859613	33859613	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr13:33859613G>C	uc001uuw.2	-	1	289	c.163C>G	c.(163-165)CAA>GAA	p.Q55E	STARD13_uc001uux.2_Intron|STARD13_uc010tec.1_RNA|STARD13_uc010abh.1_Intron	NM_178006	NP_821074	Q9Y3M8	STA13_HUMAN	StAR-related lipid transfer (START) domain	55	SAM.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|lipid particle|mitochondrial membrane	GTPase activator activity|protein binding			ovary(2)|pancreas(1)|skin(1)	4	all_epithelial(80;0.155)	Lung SC(185;0.0367)		all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143)		TCACCTTGTTGAATTTTAGTC	0.458		NA											8	113					0	0	0	0
COG6	57511	broad.mit.edu	37	13	40261891	40261891	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr13:40261891G>A	uc001uxh.2	+	10	1064	c.964G>A	c.(964-966)GAA>AAA	p.E322K	COG6_uc001uxi.2_Missense_Mutation_p.E270K|COG6_uc010acb.2_Missense_Mutation_p.E322K	NM_020751	NP_065802	Q9Y2V7	COG6_HUMAN	component of oligomeric golgi complex 6 isoform	322					protein transport	Golgi membrane|Golgi transport complex				kidney(1)|skin(1)	2		Lung NSC(96;0.000124)|Breast(139;0.0199)|Prostate(109;0.0233)|Lung SC(185;0.0367)		all cancers(112;6.03e-09)|Epithelial(112;7e-07)|OV - Ovarian serous cystadenocarcinoma(117;0.00015)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.0168)		TACTGCTTCTGAAAAGGAACA	0.373		NA											5	64					0	0	0	0
C13orf31	144811	broad.mit.edu	37	13	44463085	44463085	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr13:44463085C>T	uc010acg.2	+	5	1585	c.1100C>T	c.(1099-1101)CCA>CTA	p.P367L	C13orf31_uc001uzf.3_Missense_Mutation_p.P367L	NM_001128303	NP_001121775	Q8IV20	CM031_HUMAN	hypothetical protein LOC144811	367											0		Lung NSC(96;0.000163)|all_hematologic(4;0.0127)|Prostate(109;0.0233)|Hepatocellular(98;0.0268)|Breast(139;0.0364)|Lung SC(185;0.0367)|Acute lymphoblastic leukemia(4;0.138)		GBM - Glioblastoma multiforme(144;0.000573)|BRCA - Breast invasive adenocarcinoma(63;0.121)		TTTGATTCACCAAATCCCTGT	0.373		NA											4	78					0	0	0	0
SUPT16H	11198	broad.mit.edu	37	14	21822578	21822578	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr14:21822578C>T	uc001wao.2	-	23	3121	c.2782G>A	c.(2782-2784)GAG>AAG	p.E928K	SUPT16H_uc001wan.2_Missense_Mutation_p.E72K	NM_007192	NP_009123	Q9Y5B9	SP16H_HUMAN	chromatin-specific transcription elongation	928	Glu-rich (acidic).				DNA repair|DNA replication|nucleosome disassembly|positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	chromosome|nucleoplasm	GTP binding				0	all_cancers(95;0.00115)		Epithelial(56;1.62e-06)|all cancers(55;1.49e-05)	GBM - Glioblastoma multiforme(265;0.0159)		ACCTCACCCTCAGGCTCCAGG	0.478		NA											6	46					0	0	0	0
SUPT16H	11198	broad.mit.edu	37	14	21825367	21825367	+	Silent	SNP	C	C	T			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr14:21825367C>T	uc001wao.2	-	22	2988	c.2649G>A	c.(2647-2649)AAG>AAA	p.K883K	SUPT16H_uc001wan.2_Silent_p.K27K	NM_007192	NP_009123	Q9Y5B9	SP16H_HUMAN	chromatin-specific transcription elongation	883					DNA repair|DNA replication|nucleosome disassembly|positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	chromosome|nucleoplasm	GTP binding				0	all_cancers(95;0.00115)		Epithelial(56;1.62e-06)|all cancers(55;1.49e-05)	GBM - Glioblastoma multiforme(265;0.0159)		TCAACCATTCCTTGATGGGGT	0.413		NA											3	16					0	0	0	0
SUPT16H	11198	broad.mit.edu	37	14	21826091	21826091	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr14:21826091C>T	uc001wao.2	-	21	2824	c.2485G>A	c.(2485-2487)GAA>AAA	p.E829K	SUPT16H_uc001wan.2_5'UTR	NM_007192	NP_009123	Q9Y5B9	SP16H_HUMAN	chromatin-specific transcription elongation	829					DNA repair|DNA replication|nucleosome disassembly|positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	chromosome|nucleoplasm	GTP binding				0	all_cancers(95;0.00115)		Epithelial(56;1.62e-06)|all cancers(55;1.49e-05)	GBM - Glioblastoma multiforme(265;0.0159)		CTCACCCATTCCGTAGCATTT	0.368		NA											4	37					0	0	0	0
AKAP6	9472	broad.mit.edu	37	14	33292668	33292668	+	Missense_Mutation	SNP	C	C	G	rs113957453		TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr14:33292668C>G	uc001wrq.2	+	13	5819	c.5649C>G	c.(5647-5649)TTC>TTG	p.F1883L		NM_004274	NP_004265	Q13023	AKAP6_HUMAN	A-kinase anchor protein 6	1883					protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding			breast(6)|ovary(5)|lung(4)|skin(3)|large_intestine(2)|pancreas(1)	21	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		AAACTATTTTCAAAGTTAATA	0.353		NA											3	28					0	0	0	0
SLC38A6	145389	broad.mit.edu	37	14	61510219	61510219	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr14:61510219G>C	uc001xfg.1	+	10	858	c.742G>C	c.(742-744)GAG>CAG	p.E248Q	SLC38A6_uc001xfh.1_Missense_Mutation_p.E248Q|SLC38A6_uc001xfi.2_RNA|SLC38A6_uc001xfj.1_RNA|SLC38A6_uc001xfk.2_RNA|SLC38A6_uc010trz.1_Missense_Mutation_p.E225Q	NM_153811	NP_722518	Q8IZM9	S38A6_HUMAN	solute carrier family 38, member 6	248					amino acid transport|sodium ion transport	integral to membrane				ovary(1)|central_nervous_system(1)|skin(1)	3				OV - Ovarian serous cystadenocarcinoma(108;0.0981)		TTTCTCCAAAGAGGTGTGTAA	0.343		NA											4	46					0	0	0	0
CPSF2	53981	broad.mit.edu	37	14	92625471	92625471	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr14:92625471G>A	uc001yah.1	+	14	2203	c.1966G>A	c.(1966-1968)GAT>AAT	p.D656N		NM_017437	NP_059133	Q9P2I0	CPSF2_HUMAN	cleavage and polyadenylation specific factor 2	656					histone mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex	hydrolase activity|protein binding|RNA binding			ovary(2)	2		all_cancers(154;0.0766)		COAD - Colon adenocarcinoma(157;0.222)		ACTAAAGGATGATGGAGAAGA	0.413		NA											5	44					0	0	0	0
SERPINA10	51156	broad.mit.edu	37	14	94750479	94750479	+	Silent	SNP	T	T	G			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr14:94750479T>G	uc001yct.2	-	5	1624	c.1158A>C	c.(1156-1158)ACA>ACC	p.T386T	SERPINA10_uc001ycu.3_Silent_p.T386T	NM_016186	NP_057270	Q9UK55	ZPI_HUMAN	serine (or cysteine) proteinase inhibitor, clade	386					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			ovary(2)|skin(1)	3		all_cancers(154;0.105)		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)		CTTCAATCACTGTTCTTTGTA	0.428		NA											6	22					0	0	0	0
AHNAK2	113146	broad.mit.edu	37	14	105417209	105417209	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr14:105417209C>T	uc010axc.1	-	7	4699	c.4579G>A	c.(4579-4581)GTG>ATG	p.V1527M	AHNAK2_uc001ypx.2_Missense_Mutation_p.V1427M	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	1527						nucleus				ovary(1)	1		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GGGAGGCTCACGTCGGCCTCC	0.622		NA											6	247					0	0	0	0
AHNAK2	113146	broad.mit.edu	37	14	105418199	105418199	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr14:105418199C>T	uc010axc.1	-	7	3709	c.3589G>A	c.(3589-3591)GTG>ATG	p.V1197M	AHNAK2_uc001ypx.2_Missense_Mutation_p.V1097M	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	1197						nucleus				ovary(1)	1		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GGGAGACTCACGTCGGCCTCC	0.617		NA											11	191					0	0	0	0
MAPKBP1	23005	broad.mit.edu	37	15	42067523	42067523	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr15:42067523G>A	uc001zok.3	+	2	336	c.50G>A	c.(49-51)AGA>AAA	p.R17K	MAPKBP1_uc001zoj.3_Missense_Mutation_p.R17K|MAPKBP1_uc010bcj.2_5'UTR|MAPKBP1_uc010bci.2_Missense_Mutation_p.R17K|MAPKBP1_uc010udb.1_5'UTR|MAPKBP1_uc010bck.2_5'UTR	NM_001128608	NP_001122080	O60336	MABP1_HUMAN	mitogen-activated protein kinase binding protein	17										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)		AATCTGTTGAGATCTCCATCC	0.542		NA											9	70					0	0	0	0
NEDD4	4734	broad.mit.edu	37	15	56144728	56144728	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr15:56144728G>A	uc002adj.2	-	9	2597	c.2297C>T	c.(2296-2298)TCA>TTA	p.S766L	NEDD4_uc002adl.2_Missense_Mutation_p.S347L|NEDD4_uc002adi.2_Missense_Mutation_p.S694L|NEDD4_uc010ugj.1_Missense_Mutation_p.S750L|NEDD4_uc010bfm.2_Missense_Mutation_p.S749L|NEDD4_uc002adk.2_RNA	NM_198400	NP_006145	P46934	NEDD4_HUMAN	neural precursor cell expressed, developmentally	766	Mediates interaction with TNIK (By similarity).				development involved in symbiotic interaction|glucocorticoid receptor signaling pathway|negative regulation of sodium ion transport|negative regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage|negative regulation of vascular endothelial growth factor receptor signaling pathway|neuron projection development|positive regulation of nucleocytoplasmic transport|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein catabolic process|progesterone receptor signaling pathway|protein K63-linked ubiquitination|protein targeting to lysosome|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|receptor internalization|regulation of dendrite morphogenesis|response to calcium ion|transmission of virus	apicolateral plasma membrane|cell cortex|chromatin|cytosol|perinuclear region of cytoplasm|ubiquitin ligase complex	beta-2 adrenergic receptor binding|phosphoserine binding|phosphothreonine binding|proline-rich region binding|protein domain specific binding|RNA polymerase binding|sodium channel inhibitor activity|ubiquitin binding|ubiquitin-protein ligase activity			skin(2)|ovary(1)|breast(1)	4				all cancers(107;0.0299)|GBM - Glioblastoma multiforme(80;0.113)		TAATCCAGATGAAGTAGGCAA	0.269		NA											4	46					0	0	0	0
IQCH	64799	broad.mit.edu	37	15	67629376	67629376	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr15:67629376C>A	uc002aqo.1	+	5	498	c.451C>A	c.(451-453)CAT>AAT	p.H151N	IQCH_uc010ujv.1_Intron|IQCH_uc002aqn.1_Intron|IQCH_uc002aqq.1_Intron|IQCH_uc002aqp.1_Intron	NM_001031715	NP_001026885	Q86VS3	IQCH_HUMAN	IQ motif containing H isoform 1	151										skin(3)|ovary(1)	4				Colorectal(3;0.0856)		GCCATCTTCTCATTGCACAGA	0.368		NA											12	99					0.00136819	0.00145615	1	0
ADAMTS7	11173	broad.mit.edu	37	15	79092834	79092834	+	Silent	SNP	G	G	A			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr15:79092834G>A	uc002bej.3	-	2	367	c.156C>T	c.(154-156)GAC>GAT	p.D52D	ADAMTS7_uc010und.1_Silent_p.D52D|ADAMTS7_uc002bek.1_Silent_p.D52D	NM_014272	NP_055087	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1	52					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding				0						AGCCCCCCGCGTCGACTCGAA	0.677		NA											3	20					0	0	0	0
CRTC3	64784	broad.mit.edu	37	15	91172509	91172509	+	Silent	SNP	C	C	T			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr15:91172509C>T	uc002bpp.2	+	11	1117	c.1011C>T	c.(1009-1011)CTC>CTT	p.L337L	CRTC3_uc002bpo.2_Silent_p.L337L	NM_022769	NP_073606	Q6UUV7	CRTC3_HUMAN	transducer of regulated CREB protein 3 isoform	337					interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus			CRTC3/MAML2(26)	salivary_gland(26)|ovary(1)	27	Melanoma(11;0.00551)|Lung NSC(78;0.0931)|all_lung(78;0.163)		BRCA - Breast invasive adenocarcinoma(143;0.0745)			AAGCCACGCTCAATAAGACTG	0.448		NA	T	MAML2	salivary gland mucoepidermoid								17	126					0	0	0	0
ACSM2B	348158	broad.mit.edu	37	16	20554519	20554519	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr16:20554519G>C	uc002dhj.3	-	12	1557	c.1347C>G	c.(1345-1347)ATC>ATG	p.I449M	ACSM2B_uc002dhk.3_Missense_Mutation_p.I449M|ACSM2B_uc010bwf.1_Missense_Mutation_p.I449M	NM_182617	NP_872423	Q68CK6	ACS2B_HUMAN	acyl-CoA synthetase medium-chain family member	449					fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding			skin(3)|ovary(1)|central_nervous_system(1)	5						CTTCATCTTTGATTCCCCGGT	0.498		NA											15	262					0	0	0	0
ARMC5	79798	broad.mit.edu	37	16	31477278	31477278	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr16:31477278G>A	uc002ecc.2	+	5	2501	c.1972G>A	c.(1972-1974)GCG>ACG	p.A658T	ARMC5_uc010vfn.1_Missense_Mutation_p.A753T|ARMC5_uc010vfo.1_Missense_Mutation_p.A690T|ARMC5_uc002eca.3_3'UTR|ARMC5_uc010vfp.1_Missense_Mutation_p.A466T|ARMC5_uc002ecb.2_Missense_Mutation_p.A658T	NM_001105247	NP_001098717	Q96C12	ARMC5_HUMAN	armadillo repeat containing 5 isoform a	658							binding			pancreas(1)	1						AGTGGCCTGCGCGCTGACCCT	0.652		NA											12	71					0	0	0	0
ACAP1	9744	broad.mit.edu	37	17	7253489	7253489	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr17:7253489C>G	uc002ggd.2	+	20	2211	c.2005C>G	c.(2005-2007)CGA>GGA	p.R669G	KCTD11_uc002gge.3_5'Flank	NM_014716	NP_055531	Q15027	ACAP1_HUMAN	centaurin beta1	669	Required for interaction with GULP1.				intracellular signal transduction|lipid metabolic process|protein transport|regulation of ARF GTPase activity		ARF GTPase activator activity|phospholipase C activity|protein binding|zinc ion binding			breast(2)|large_intestine(1)	3						TCTGGGGGCTCGAGACTCTGA	0.637		NA											8	113					0	0	0	0
TP53	7157	broad.mit.edu	37	17	7577120	7577120	+	Missense_Mutation	SNP	C	C	T	rs28934576	by1000genomes	TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr17:7577120C>T	uc002gim.2	-	8	1012	c.818G>A	c.(817-819)CGT>CAT	p.R273H	TP53_uc002gig.1_Intron|TP53_uc002gih.2_Missense_Mutation_p.R273H|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R141H|TP53_uc010cng.1_Missense_Mutation_p.R141H|TP53_uc002gii.1_Missense_Mutation_p.R141H|TP53_uc010cnh.1_Missense_Mutation_p.R273H|TP53_uc010cni.1_Missense_Mutation_p.R273H|TP53_uc002gij.2_Missense_Mutation_p.R273H	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	273	Interaction with DNA.||Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (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.R273H(469)|p.R273C(394)|p.R273L(83)|p.R273P(24)|p.R273S(11)|p.R273G(9)|p.0?(7)|p.R273fs*72(3)|p.?(2)|p.R273fs*33(2)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.R273R(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(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)		GGCACAAACACGCACCTCAAA	0.542	R273H(NCIH1793_LUNG)|R273H(MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(PANC1_PANCREAS)|R273H(NCIH508_LARGE_INTESTINE)|R273H(NCIH1975_LUNG)|R273H(U251MG_CENTRAL_NERVOUS_SYSTEM)|R273H(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273H(NCIH2405_LUNG)|R273H(HEC59_ENDOMETRIUM)|R273H(NCIH1155_LUNG)|R273H(HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(EN_ENDOMETRIUM)|R273H(SNB19_CENTRAL_NERVOUS_SYSTEM)|R273H(MDAMB468_BREAST)|R273H(SUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SW620_LARGE_INTESTINE)|R273H(SUIT2_PANCREAS)|R273H(SW480_LARGE_INTESTINE)|R273H(SKMEL30_SKIN)|R273H(OC314_OVARY)|R273H(HEC6_ENDOMETRIUM)|R273H(HT29_LARGE_INTESTINE)	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)			4	31					0	0	0	0
CYB5D1	124637	broad.mit.edu	37	17	7761549	7761549	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr17:7761549G>A	uc002gjb.3	+	1	486	c.97G>A	c.(97-99)GAC>AAC	p.D33N	LSMD1_uc002giz.2_5'Flank|LSMD1_uc002gja.2_5'Flank|CYB5D1_uc010cnn.1_Missense_Mutation_p.D33N	NM_144607	NP_653208	Q6P9G0	CB5D1_HUMAN	cytochrome b5 domain containing 1	33	Cytochrome b5 heme-binding.						heme binding			skin(1)	1		all_cancers(10;0.11)|Prostate(122;0.219)				CAGGCCCGAAGACCTCTGGGT	0.617		NA									OREG0024147	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	95					0	0	0	0
FLCN	201163	broad.mit.edu	37	17	17120452	17120452	+	Silent	SNP	G	G	A			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr17:17120452G>A	uc002gra.3	-	10	1611	c.1107C>T	c.(1105-1107)CTC>CTT	p.L369L	PLD6_uc010cpn.2_RNA	NM_144997	NP_659434	Q8NFG4	FLCN_HUMAN	folliculin isoform 1	369					regulation of protein phosphorylation	cytoplasm|nucleus|plasma membrane	protein binding			thyroid(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)	3						GGTTCCCCATGAGAACGTGCC	0.522		NA							Birt-Hogg-Dub__syndrome|Familial_Non-VHL_Clear_Cell_Renal_Cancer				5	36					0	0	0	0
FAM83G	644815	broad.mit.edu	37	17	18881375	18881375	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr17:18881375G>A	uc002guw.2	-	5	1771	c.1604C>T	c.(1603-1605)CCC>CTC	p.P535L	SLC5A10_uc002gur.1_Intron|SLC5A10_uc002guu.1_Intron|SLC5A10_uc002gut.1_Intron|SLC5A10_uc002guv.1_Intron|SLC5A10_uc010vyl.1_Intron	NM_001039999	NP_001035088	A6ND36	FA83G_HUMAN	hypothetical protein LOC644815	535										ovary(1)|central_nervous_system(1)	2						CCCATTCTGGGGAGCTTCCTC	0.647		NA											6	110					0	0	0	0
NF1	4763	broad.mit.edu	37	17	29559140	29559140	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr17:29559140C>T	uc002hgg.2	+	25	3580	c.3247C>T	c.(3247-3249)CTC>TTC	p.L1083F	NF1_uc002hgh.2_Missense_Mutation_p.L1083F|NF1_uc010csn.1_Missense_Mutation_p.L943F|NF1_uc002hgi.1_Missense_Mutation_p.L116F	NM_001042492	NP_001035957	P21359	NF1_HUMAN	neurofibromin isoform 1	1083					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.?(2)		soft_tissue(159)|central_nervous_system(56)|lung(28)|large_intestine(27)|haematopoietic_and_lymphoid_tissue(18)|ovary(18)|autonomic_ganglia(12)|breast(3)|skin(3)|stomach(2)|thyroid(1)|prostate(1)|kidney(1)|pancreas(1)	330		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		TCTAGCTGGTCTCCCTCTGCA	0.353		NA	D|Mis|N|F|S|O		neurofibroma|glioma	neurofibroma|glioma			Neurofibromatosis_type_1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			4	24					0	0	0	0
MYO1D	4642	broad.mit.edu	37	17	31094700	31094700	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr17:31094700T>A	uc002hho.1	-	7	797	c.785A>T	c.(784-786)GAG>GTG	p.E262V	MYO1D_uc002hhp.1_Missense_Mutation_p.E262V|MYO1D_uc010wcb.1_Missense_Mutation_p.E262V	NM_015194	NP_056009	O94832	MYO1D_HUMAN	myosin ID	262	Myosin head-like.					myosin complex	actin binding|ATP binding|calmodulin binding			large_intestine(1)|ovary(1)|central_nervous_system(1)	3			BRCA - Breast invasive adenocarcinoma(9;0.0362)			TTGGATCTCCTCAGGTTTGAA	0.423		NA											6	43					0	0	0	0
LPO	4025	broad.mit.edu	37	17	56320355	56320355	+	Silent	SNP	C	C	G			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr17:56320355C>G	uc002ivt.2	+	2	331	c.15C>G	c.(13-15)CTC>CTG	p.L5L	LPO_uc010dco.2_Silent_p.L5L|LPO_uc010wnr.1_Silent_p.L5L|LPO_uc010wns.1_5'UTR|LPO_uc010dcp.2_Silent_p.L5L	NM_006151	NP_006142	P22079	PERL_HUMAN	lactoperoxidase isoform 1 preproprotein	5					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			ovary(1)|breast(1)	2						GGGTCCTTCTCCATCTCCCAG	0.483		NA											11	195					0	0	0	0
TLK2	11011	broad.mit.edu	37	17	60598197	60598197	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr17:60598197G>C	uc010ddp.2	+	3	413	c.145G>C	c.(145-147)GAA>CAA	p.E49Q	TLK2_uc002izx.3_5'UTR|TLK2_uc002izz.3_Missense_Mutation_p.E49Q|TLK2_uc002jaa.3_Missense_Mutation_p.E49Q|TLK2_uc010wpd.1_Missense_Mutation_p.E49Q	NM_006852	NP_006843	Q86UE8	TLK2_HUMAN	tousled-like kinase 2 isoform A	49					cell cycle|chromatin modification|intracellular signal transduction|regulation of chromatin assembly or disassembly|response to DNA damage stimulus	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			stomach(1)|kidney(1)	2						GAGTGATAAAGAAGTAGAGGT	0.274		NA											6	79					0	0	0	0
SOX9	6662	broad.mit.edu	37	17	70120527	70120527	+	Silent	SNP	G	G	A			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr17:70120527G>A	uc002jiw.2	+	3	1901	c.1529G>A	c.(1528-1530)TGA>TAA	p.*510*		NM_000346	NP_000337	P48436	SOX9_HUMAN	transcription factor SOX9	510					cAMP-mediated signaling|negative regulation of transcription, DNA-dependent|positive regulation of branching involved in ureteric bud morphogenesis|protein complex assembly|renal vesicle induction	nucleus|protein complex	core promoter sequence-specific DNA binding|enhancer binding|protein kinase A catalytic subunit binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription				0		Colorectal(1115;0.245)	STAD - Stomach adenocarcinoma(260;0.119)			ACTCGACCTTGAGGAGGCCTC	0.552		NA											5	80					0	0	0	0
ITGB4	3691	broad.mit.edu	37	17	73729739	73729739	+	Silent	SNP	C	C	T			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr17:73729739C>T	uc002jpg.2	+	13	1810	c.1623C>T	c.(1621-1623)TTC>TTT	p.F541F	ITGB4_uc002jph.2_Silent_p.F541F|ITGB4_uc010dgo.2_Silent_p.F541F|ITGB4_uc002jpi.3_Silent_p.F541F|ITGB4_uc010dgp.1_Silent_p.F541F|ITGB4_uc002jpj.2_Silent_p.F541F|ITGB4_uc010wsh.1_Silent_p.F96F	NM_000213	NP_000204	P16144	ITB4_HUMAN	integrin beta 4 isoform 1 precursor	541	II.|Extracellular (Potential).|Cysteine-rich tandem repeats.				cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding	cell leading edge|cell surface|hemidesmosome|integrin complex	protein binding|receptor activity			lung(4)	4	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			ATGACAACTTCCAGTGTCCCC	0.612		NA											4	42					0	0	0	0
QRICH2	84074	broad.mit.edu	37	17	74287504	74287504	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr17:74287504G>A	uc002jrd.1	-	4	2986	c.2806C>T	c.(2806-2808)CTC>TTC	p.L936F	QRICH2_uc010wsz.1_Missense_Mutation_p.L862F|QRICH2_uc010dgw.1_Intron	NM_032134	NP_115510	Q9H0J4	QRIC2_HUMAN	glutamine rich 2	936							protein binding			ovary(1)|pancreas(1)|lung(1)|central_nervous_system(1)|skin(1)	5						CTGTCAAAGAGAGAGAAAGCA	0.507		NA											6	58					0	0	0	0
TNRC6C	57690	broad.mit.edu	37	17	76060832	76060832	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr17:76060832G>A	uc002jud.2	+	5	3025	c.2425G>A	c.(2425-2427)GTT>ATT	p.V809I	TNRC6C_uc002juf.2_Missense_Mutation_p.V806I|TNRC6C_uc002jue.2_Missense_Mutation_p.V806I	NM_018996	NP_061869	Q9HCJ0	TNR6C_HUMAN	trinucleotide repeat containing 6C isoform 2	809	Sufficient for interaction with argonaute family proteins.				gene silencing by RNA|regulation of translation		nucleotide binding|RNA binding			ovary(1)|central_nervous_system(1)	2			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			AATGCCTAATGTTCACTCAAA	0.458		NA											6	68					0	0	0	0
KIAA0802	23255	broad.mit.edu	37	18	8718593	8718593	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr18:8718593G>C	uc002knr.2	+	3	287	c.145G>C	c.(145-147)GAG>CAG	p.E49Q	KIAA0802_uc002knq.2_Missense_Mutation_p.E49Q	NM_015210	NP_056025	Q9Y4B5	CC165_HUMAN	hypothetical protein LOC23255	400											0						GAAAGTGGCTGAGACGGGTCA	0.577		NA											8	57					0	0	0	0
VAPA	9218	broad.mit.edu	37	18	9931855	9931855	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr18:9931855C>G	uc002kok.2	+	2	427	c.128C>G	c.(127-129)TCG>TGG	p.S43W	VAPA_uc002koj.2_Missense_Mutation_p.S43W	NM_194434	NP_919415	Q9P0L0	VAPA_HUMAN	vesicle-associated membrane protein-associated	43	Cytoplasmic (Potential).|MSP.				cell death|cellular membrane fusion|neuron projection development|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein localization in endoplasmic reticulum|sphingolipid metabolic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane|vesicle	protein heterodimerization activity|signal transducer activity|structural molecule activity				0						CGAAATCCATCGGATAGAAAA	0.393		NA											4	90					0	0	0	0
ZNF521	25925	broad.mit.edu	37	18	22805793	22805793	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr18:22805793C>A	uc002kvk.2	-	4	2336	c.2089G>T	c.(2089-2091)GAG>TAG	p.E697*	ZNF521_uc010xbe.1_RNA|ZNF521_uc010dly.2_Nonsense_Mutation_p.E697*|ZNF521_uc002kvl.2_Nonsense_Mutation_p.E477*	NM_015461	NP_056276	Q96K83	ZN521_HUMAN	zinc finger protein 521	697	C2H2-type 16.				cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding			ovary(4)|large_intestine(2)|lung(1)	7	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					TCACAACTCTCACAGATGTAA	0.453		NA	T	PAX5	ALL								8	111					0.00307968	0.00326212	1	0
CELF4	56853	broad.mit.edu	37	18	34833849	34833849	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr18:34833849C>T	uc002lae.2	-	12	1782	c.1386G>A	c.(1384-1386)ATG>ATA	p.M462I	CELF4_uc010dnd.1_Missense_Mutation_p.M460I|CELF4_uc002lag.2_Missense_Mutation_p.M424I|CELF4_uc002laf.2_Missense_Mutation_p.M456I	NM_020180	NP_064565	Q9BZC1	CELF4_HUMAN	bruno-like 4, RNA binding protein isoform 1	462	RRM 3.				embryo development|germ cell development|regulation of alternative nuclear mRNA splicing, via spliceosome	cytoplasm|nucleus	BRE binding|nucleotide binding|translation repressor activity, nucleic acid binding			ovary(2)	2						GGAAGCCGTTCATGGCCTGGA	0.632		NA											9	75					0	0	0	0
HMHA1	23526	broad.mit.edu	37	19	1073166	1073166	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr19:1073166G>A	uc002lqz.1	+	3	671	c.440G>A	c.(439-441)CGC>CAC	p.R147H	HMHA1_uc010xgd.1_Missense_Mutation_p.R163H|HMHA1_uc010xge.1_5'UTR|HMHA1_uc002lra.1_5'UTR|HMHA1_uc002lrb.1_Missense_Mutation_p.R30H	NM_012292	NP_036424	Q92619	HMHA1_HUMAN	minor histocompatibility antigen HA-1	147					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding			lung(1)	1		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GAGGCCCGCCGCCCGCGGGCC	0.647		NA											8	89					0	0	0	0
PTPRS	5802	broad.mit.edu	37	19	5212212	5212212	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr19:5212212C>G	uc002mbv.2	-	32	5053	c.4819G>C	c.(4819-4821)GAG>CAG	p.E1607Q	PTPRS_uc002mbu.1_Missense_Mutation_p.E1176Q|PTPRS_uc010xin.1_Missense_Mutation_p.E1149Q|PTPRS_uc002mbw.2_Missense_Mutation_p.E1569Q|PTPRS_uc002mbx.2_Missense_Mutation_p.E1164Q|PTPRS_uc002mby.2_Missense_Mutation_p.E1160Q	NM_002850	NP_002841	Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type,	1607	Cytoplasmic (Potential).|Tyrosine-protein phosphatase 1.				cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			large_intestine(2)|ovary(1)|central_nervous_system(1)	4				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)		TTGATCCGCTCAAGCATGGCG	0.622		NA											4	84					0	0	0	0
ICAM1	3383	broad.mit.edu	37	19	10394872	10394872	+	Silent	SNP	C	C	T			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr19:10394872C>T	uc002mnq.2	+	4	1120	c.801C>T	c.(799-801)AAC>AAT	p.N267N	ICAM1_uc010xle.1_Silent_p.N45N|ICAM4_uc002mnr.1_5'Flank|ICAM4_uc002mns.1_5'Flank|ICAM4_uc002mnt.1_5'Flank	NM_000201	NP_000192	P05362	ICAM1_HUMAN	intercellular adhesion molecule 1 precursor	267	Ig-like C2-type 3.|Extracellular (Potential).				adhesion to symbiont|heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|membrane to membrane docking|positive regulation of cellular extravasation|regulation of immune response|regulation of leukocyte mediated cytotoxicity|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell|virion attachment, binding of host cell surface receptor	extracellular space|integral to plasma membrane	integrin binding|transmembrane receptor activity			ovary(1)	1			OV - Ovarian serous cystadenocarcinoma(20;1.39e-09)|Epithelial(33;2.81e-06)|all cancers(31;6.56e-06)		Natalizumab(DB00108)|Simvastatin(DB00641)	CCTATGGCAACGACTCCTTCT	0.632		NA											9	77					0	0	0	0
ZNF44	51710	broad.mit.edu	37	19	12384320	12384320	+	Silent	SNP	C	C	T			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr19:12384320C>T	uc010xmj.1	-	5	1099	c.894G>A	c.(892-894)GAG>GAA	p.E298E	ZNF44_uc002mtl.2_Intron|ZNF44_uc010dyr.1_Intron|ZNF44_uc010xmi.1_RNA|ZNF44_uc002mtn.3_RNA|ZNF44_uc010dys.2_Silent_p.E250E	NM_001164276	NP_001157748	P15621	ZNF44_HUMAN	zinc finger protein 44 isoform 1	298					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton|nucleus	DNA binding|protein binding|zinc ion binding			ovary(1)	1		Renal(1328;0.157)		GBM - Glioblastoma multiforme(1328;0.0164)|Lung(535;0.179)		CATACGGTTTCTCCCCAGTGT	0.393		NA											10	147					0	0	0	0
NANOS3	342977	broad.mit.edu	37	19	13991286	13991286	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr19:13991286C>T	uc002mxj.3	+	2	661	c.548C>T	c.(547-549)TCG>TTG	p.S183L		NM_001098622	NP_001092092	P60323	NANO3_HUMAN	nanos homolog 3	164					anti-apoptosis|germ cell development|multicellular organismal development|oogenesis|regulation of cell cycle|regulation of translation|spermatogenesis	cytoplasmic mRNA processing body|nucleus|stress granule	RNA binding|zinc ion binding			skin(1)	1			OV - Ovarian serous cystadenocarcinoma(19;2e-21)			TCTGAGCCTTCGCCCTCCTGC	0.612		NA									OREG0025300	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	54					0	0	0	0
PKN1	5585	broad.mit.edu	37	19	14569134	14569134	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr19:14569134G>C	uc002myp.2	+	9	1534	c.1366G>C	c.(1366-1368)GAG>CAG	p.E456Q	PKN1_uc002myq.2_Missense_Mutation_p.E462Q	NM_002741	NP_002732	Q16512	PKN1_HUMAN	protein kinase N1 isoform 2	456	C2.				activation of JUN kinase activity|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent	endosome|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|GTP-Rho binding|histone binding|histone deacetylase binding|histone kinase activity (H3-T11 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|Rac GTPase binding			ovary(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1)	8						CTTGGACAATGAGAGGCATGA	0.582		NA											4	58					0	0	0	0
HAUS5	23354	broad.mit.edu	37	19	36113850	36113850	+	Silent	SNP	G	G	A			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr19:36113850G>A	uc002oam.1	+	19	1908	c.1857G>A	c.(1855-1857)CTG>CTA	p.L619L		NM_015302	NP_056117	O94927	HAUS5_HUMAN	HAUS augmin-like complex, subunit 5	619					cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|spindle					0						AGTGGCGGCTGCGCTGGGTTC	0.652		NA											14	62					0	0	0	0
SAMD4B	55095	broad.mit.edu	37	19	39867397	39867397	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr19:39867397G>A	uc002olb.2	+	9	2105	c.1070G>A	c.(1069-1071)CGT>CAT	p.R357H	SAMD4B_uc002ola.2_Missense_Mutation_p.R357H	NM_018028	NP_060498	Q5PRF9	SMAG2_HUMAN	sterile alpha motif domain containing 4B	357	SAM.						protein binding				0	all_cancers(60;2.5e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;9.6e-28)|all cancers(26;9.14e-25)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)			CAGAAGCTGCGTGAGAGACAG	0.557		NA											8	36					0	0	0	0
TIMM50	92609	broad.mit.edu	37	19	39971230	39971230	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr19:39971230C>T	uc002olu.1	+	1	179	c.46C>T	c.(46-48)CGC>TGC	p.R16C	TIMM50_uc002olt.1_RNA	NM_001001563	NP_001001563	Q3ZCQ8	TIM50_HUMAN	translocase of inner mitochondrial membrane 50	Error:Variant_position_missing_in_Q3ZCQ8_after_alignment					mitochondrial membrane organization|protein transport|release of cytochrome c from mitochondria|transmembrane transport	integral to membrane|mitochondrial inner membrane presequence translocase complex|nuclear speck	interleukin-2 receptor binding|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|ribonucleoprotein binding|RNA binding			ovary(1)	1	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		Epithelial(26;5.89e-26)|all cancers(26;1.96e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			TCCCTTCCTTCGCTGCGTCCT	0.562		NA											8	82					0	0	0	0
CD177	57126	broad.mit.edu	37	19	43865665	43865665	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr19:43865665T>C	uc002owi.2	+	9	1057	c.1015T>C	c.(1015-1017)TCC>CCC	p.S339P	CD177_uc010eis.2_RNA|CD177_uc002owj.2_RNA	NM_020406	NP_065139	Q8N6Q3	CD177_HUMAN	CD177 molecule precursor	339	UPAR/Ly6 2.				blood coagulation|leukocyte migration	anchored to membrane|plasma membrane				central_nervous_system(1)	1		Prostate(69;0.00682)				TTCAAGTGGCTCCCCCCGAAT	0.547		NA											3	40					0	0	0	0
ZNF225	7768	broad.mit.edu	37	19	44635574	44635574	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr19:44635574C>A	uc002oyj.1	+	5	1050	c.807C>A	c.(805-807)TTC>TTA	p.F269L	ZNF225_uc010eje.1_Missense_Mutation_p.F186L|ZNF225_uc010ejf.1_Missense_Mutation_p.F269L	NM_013362	NP_037494	Q9UK10	ZN225_HUMAN	zinc finger protein 225	269	C2H2-type 4.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Prostate(69;0.0352)|all_neural(266;0.202)				GGAAGGCCTTCATTCATGATT	0.408		NA											10	88					0.00621372	0.00653537	1	0
APOC1	341	broad.mit.edu	37	19	45419544	45419544	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr19:45419544C>G	uc002pac.1	+	4	408	c.156C>G	c.(154-156)ATC>ATG	p.I52M	APOC1_uc002pad.1_Missense_Mutation_p.I52M|APOC1_uc002pae.1_Missense_Mutation_p.I52M|APOC1_uc002paf.1_RNA	NM_001645	NP_001636	P02654	APOC1_HUMAN	apolipoprotein C-I precursor	52					cholesterol efflux|chylomicron remnant clearance|high-density lipoprotein particle remodeling|lipoprotein metabolic process|negative regulation of cholesterol transport|negative regulation of fatty acid biosynthetic process|negative regulation of lipoprotein lipase activity|negative regulation of phosphatidylcholine catabolic process|negative regulation of receptor-mediated endocytosis|negative regulation of very-low-density lipoprotein particle clearance|phospholipid efflux|positive regulation of cholesterol esterification|very-low-density lipoprotein particle assembly|very-low-density lipoprotein particle clearance	chylomicron|endoplasmic reticulum|high-density lipoprotein particle|very-low-density lipoprotein particle	fatty acid binding|phosphatidylcholine binding|phosphatidylcholine-sterol O-acyltransferase activator activity|phospholipase inhibitor activity				0	Lung NSC(12;0.0018)|all_lung(12;0.00481)	Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00327)|Epithelial(262;0.174)		GGGAACTCATCAGCCGCATCA	0.587		NA											8	95					0	0	0	0
OPA3	80207	broad.mit.edu	37	19	46057068	46057068	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr19:46057068C>G	uc002pck.3	-	2	344	c.244G>C	c.(244-246)GAG>CAG	p.E82Q	OPA3_uc002pcj.3_Intron|OPA3_uc010xxk.1_Missense_Mutation_p.E29Q	NM_025136	NP_079412	Q9H6K4	OPA3_HUMAN	OPA3 protein isoform b	82					response to stimulus|visual perception	mitochondrion					0		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00778)|GBM - Glioblastoma multiforme(486;0.0976)|Epithelial(262;0.242)		CCCAGCAGCTCTGCGCCCAGC	0.657		NA											7	30					0	0	0	0
OPA3	80207	broad.mit.edu	37	19	46057095	46057095	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr19:46057095C>T	uc002pck.3	-	2	317	c.217G>A	c.(217-219)GAG>AAG	p.E73K	OPA3_uc002pcj.3_Intron|OPA3_uc010xxk.1_Missense_Mutation_p.E20K	NM_025136	NP_079412	Q9H6K4	OPA3_HUMAN	OPA3 protein isoform b	73					response to stimulus|visual perception	mitochondrion					0		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00778)|GBM - Glioblastoma multiforme(486;0.0976)|Epithelial(262;0.242)		GCCGCCTCCTCGTTCAGCGGC	0.657		NA											5	30					0	0	0	0
LILRB1	10859	broad.mit.edu	37	19	55143593	55143593	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr19:55143593C>T	uc002qgj.2	+	6	906	c.566C>T	c.(565-567)CCG>CTG	p.P189L	LILRB1_uc010erp.1_Intron|LILRB1_uc002qgl.2_Missense_Mutation_p.P189L|LILRB1_uc002qgk.2_Missense_Mutation_p.P189L|LILRB1_uc002qgm.2_Missense_Mutation_p.P189L|LILRB1_uc010erq.2_Missense_Mutation_p.P189L|LILRB1_uc010err.2_RNA	NM_006669	NP_006660	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor,	189	Ig-like C2-type 2.|Extracellular (Potential).				regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity			large_intestine(1)|ovary(1)|skin(1)	3				GBM - Glioblastoma multiforme(193;0.0188)		CCCGTGAGCCCGAGTCGCAGG	0.592		NA								HNSCC(37;0.09)			17	147					0	0	0	0
NLRP7	199713	broad.mit.edu	37	19	55450785	55450785	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr19:55450785G>A	uc002qih.3	-	4	1478	c.1402C>T	c.(1402-1404)CAC>TAC	p.H468Y	NLRP7_uc002qig.3_Missense_Mutation_p.H468Y|NLRP7_uc002qii.3_Missense_Mutation_p.H468Y|NLRP7_uc010esk.2_Missense_Mutation_p.H468Y|NLRP7_uc010esl.2_Missense_Mutation_p.H496Y	NM_206828	NP_996611	Q8WX94	NALP7_HUMAN	NACHT, leucine rich repeat and PYD containing 7	468	NACHT.						ATP binding			large_intestine(1)|breast(1)|central_nervous_system(1)	3				GBM - Glioblastoma multiforme(193;0.0325)		AAGCTGAGGTGGATGAAGGAG	0.622		NA											3	40					0	0	0	0
ZSCAN1	284312	broad.mit.edu	37	19	58564809	58564809	+	Missense_Mutation	SNP	G	G	T	rs149388605	byFrequency	TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr19:58564809G>T	uc002qrc.1	+	6	864	c.617G>T	c.(616-618)CGC>CTC	p.R206L		NM_182572	NP_872378	Q8NBB4	ZSCA1_HUMAN	zinc finger and SCAN domain containing 1	206					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)	2		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		TCCCGGGCCCGCTTGCCTCTG	0.662		NA											8	76					1.26e-09	1.4e-09	1	0
ZNF544	27300	broad.mit.edu	37	19	58773055	58773055	+	Silent	SNP	A	A	G			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr19:58773055A>G	uc010euo.2	+	7	1557	c.1083A>G	c.(1081-1083)AAA>AAG	p.K361K	ZNF544_uc010yhw.1_RNA|ZNF544_uc010yhx.1_Silent_p.K333K|ZNF544_uc010yhy.1_Silent_p.K333K|ZNF544_uc002qrt.3_Silent_p.K219K|ZNF544_uc002qru.3_Silent_p.K219K|uc002qrx.1_Intron	NM_014480	NP_055295	Q6NX49	ZN544_HUMAN	zinc finger protein 544	361	C2H2-type 1; atypical.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			pancreas(1)	1		all_cancers(17;4.17e-12)|all_epithelial(17;1.25e-08)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.17)|GBM - Glioblastoma multiforme(193;0.018)		AGTGTGGAAAATCTTTCAGCT	0.458		NA											8	54					0	0	0	0
CNGA3	1261	broad.mit.edu	37	2	99013345	99013345	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr2:99013345T>C	uc002syt.2	+	8	2129	c.1712T>C	c.(1711-1713)ATT>ACT	p.I571T	CNGA3_uc002syu.2_Missense_Mutation_p.I553T|CNGA3_uc010fij.2_Missense_Mutation_p.I575T	NM_001298	NP_001289	Q16281	CNGA3_HUMAN	cyclic nucleotide gated channel alpha 3 isoform	571	cGMP.				signal transduction|visual perception	integral to membrane	cGMP binding			ovary(5)|upper_aerodigestive_tract(1)	6						ATCCGCAGCATTGGCTACTCA	0.587		NA											19	134					0	0	0	0
UBXN4	23190	broad.mit.edu	37	2	136536546	136536546	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr2:136536546C>T	uc002tur.2	+	11	1393	c.1082C>T	c.(1081-1083)TCG>TTG	p.S361L	UBXN4_uc002tus.2_Missense_Mutation_p.S127L|UBXN4_uc002tut.2_5'UTR	NM_014607	NP_055422	Q92575	UBXN4_HUMAN	UBX domain containing 2	361	UBX.|Cytoplasmic (Potential).				response to unfolded protein	endoplasmic reticulum membrane|nuclear envelope	protein binding			skin(2)	2						GGTAATTTTTCGTTAGCAACC	0.358		NA											7	60					0	0	0	0
ITGA6	3655	broad.mit.edu	37	2	173355777	173355777	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr2:173355777G>A	uc002uhp.1	+	21	2908	c.2705G>A	c.(2704-2706)CGG>CAG	p.R902Q	ITGA6_uc010zdy.1_Missense_Mutation_p.R783Q|ITGA6_uc002uho.1_Missense_Mutation_p.R902Q|ITGA6_uc010fqm.1_Missense_Mutation_p.R533Q	NM_001079818	NP_001073286	P23229	ITA6_HUMAN	integrin alpha chain, alpha 6 isoform a	941	Extracellular (Potential).				blood coagulation|cell adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|positive regulation of apoptosis|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter	integrin complex	protein binding|receptor activity			ovary(1)|lung(1)	2			OV - Ovarian serous cystadenocarcinoma(117;0.0979)			AGAAAGAAACGGGAAATTACT	0.299		NA											18	167					0	0	0	0
NAB1	4664	broad.mit.edu	37	2	191524148	191524148	+	Silent	SNP	C	C	T			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr2:191524148C>T	uc002usb.2	+	4	818	c.246C>T	c.(244-246)TTC>TTT	p.F82F	NAB1_uc010fsc.2_Silent_p.F82F|NAB1_uc010fsd.2_Silent_p.F82F|NAB1_uc002usc.2_Silent_p.F82F|NAB1_uc010zgh.1_Silent_p.F82F	NM_005966	NP_005957	Q13506	NAB1_HUMAN	NGFI-A binding protein 1	82	NCD1.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus					0			OV - Ovarian serous cystadenocarcinoma(117;0.00318)|Epithelial(96;0.0405)|all cancers(119;0.109)			CTGGGCTTTTCAATCAGCCAC	0.478		NA											4	80					0	0	0	0
NAB1	4664	broad.mit.edu	37	2	191524152	191524152	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr2:191524152C>G	uc002usb.2	+	4	822	c.250C>G	c.(250-252)CAG>GAG	p.Q84E	NAB1_uc010fsc.2_Missense_Mutation_p.Q84E|NAB1_uc010fsd.2_Missense_Mutation_p.Q84E|NAB1_uc002usc.2_Missense_Mutation_p.Q84E|NAB1_uc010zgh.1_Missense_Mutation_p.Q84E	NM_005966	NP_005957	Q13506	NAB1_HUMAN	NGFI-A binding protein 1	84					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus					0			OV - Ovarian serous cystadenocarcinoma(117;0.00318)|Epithelial(96;0.0405)|all cancers(119;0.109)			GCTTTTCAATCAGCCACTGAC	0.493		NA											4	82					0	0	0	0
SF3B1	23451	broad.mit.edu	37	2	198299715	198299715	+	Silent	SNP	C	C	T			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr2:198299715C>T	uc002uue.2	-	1	57	c.9G>A	c.(7-9)AAG>AAA	p.K3K	SF3B1_uc010fsk.1_RNA|SF3B1_uc002uuf.2_Silent_p.K3K|SF3B1_uc002uug.2_Silent_p.K3K	NM_012433	NP_036565	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1 isoform 1	3					nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex	protein binding			pancreas(3)|ovary(1)|breast(1)|skin(1)	6			OV - Ovarian serous cystadenocarcinoma(117;0.246)			TCTTGGCGATCTTCGCCATTT	0.517		NA											5	62					0	0	0	0
CASP8	841	broad.mit.edu	37	2	202137620	202137620	+	Splice_Site	SNP	G	G	C			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr2:202137620G>C	uc002uxr.1	+	6	760	c.551_splice	c.e6-1	p.E184_splice	CASP8_uc010ftc.1_3'UTR|CASP8_uc002uxo.1_Splice_Site_p.E184_splice|CASP8_uc002uxp.1_Intron|CASP8_uc002uxq.1_Intron|CASP8_uc002uxt.1_Splice_Site_p.E243_splice|CASP8_uc002uxu.1_Splice_Site|CASP8_uc002uxv.1_Intron|CASP8_uc002uxw.1_Intron|CASP8_uc002uxy.1_Splice_Site_p.E184_splice|CASP8_uc002uxx.1_Intron|CASP8_uc010ftf.2_Intron|CASP8_uc010fte.1_Intron	NM_033355	NP_203519	Q14790	CASP8_HUMAN	caspase 8 isoform B precursor						activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor	centrosome|cytosol|mitochondrial outer membrane	cysteine-type endopeptidase activity|protein binding|protein binding			upper_aerodigestive_tract(2)|ovary(1)|breast(1)|skin(1)	5						TTTTAATTCAGAGAGAAGCAG	0.368		NA								HNSCC(4;0.00038)			4	80					0	0	0	0
STRADB	55437	broad.mit.edu	37	2	202340452	202340452	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr2:202340452G>A	uc002uyd.3	+	7	900	c.535G>A	c.(535-537)GGC>AGC	p.G179S		NM_018571	NP_061041	Q9C0K7	STRAB_HUMAN	STE20-related kinase adaptor beta	179	Protein kinase.				activation of protein kinase activity|cell cycle arrest|insulin receptor signaling pathway|protein export from nucleus|regulation of fatty acid oxidation	cytosol|nucleus	ATP binding|protein binding|protein kinase activity			skin(2)|stomach(1)|lung(1)	4						GCACCAAAATGGCTGTATTCA	0.338		NA											18	90					0	0	0	0
DYTN	391475	broad.mit.edu	37	2	207530693	207530693	+	Silent	SNP	C	C	T			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr2:207530693C>T	uc002vbr.1	-	10	1158	c.1041G>A	c.(1039-1041)CAG>CAA	p.Q347Q		NM_001093730	NP_001087199	A2CJ06	DYTN_HUMAN	dystrotelin	347	Potential.					plasma membrane	zinc ion binding			ovary(1)|central_nervous_system(1)	2				LUSC - Lung squamous cell carcinoma(261;0.082)|Epithelial(149;0.129)|Lung(261;0.153)		TTCTTTCTTCCTGGGAGGTGT	0.408		NA											10	74					0	0	0	0
ERBB4	2066	broad.mit.edu	37	2	212530201	212530201	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr2:212530201C>T	uc002veg.1	-	15	1816	c.1718G>A	c.(1717-1719)GGT>GAT	p.G573D	ERBB4_uc002veh.1_Missense_Mutation_p.G573D|ERBB4_uc010zji.1_Missense_Mutation_p.G573D|ERBB4_uc010zjj.1_Missense_Mutation_p.G573D|ERBB4_uc010fut.1_Missense_Mutation_p.G573D	NM_005235	NP_005226	Q15303	ERBB4_HUMAN	v-erb-a erythroblastic leukemia viral oncogene	573	Extracellular (Potential).|Cys-rich.				cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			lung(21)|skin(5)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	33		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		GTTGTCAGGACCCTGAAATGT	0.393		NA								TSP Lung(8;0.080)			4	47					0	0	0	0
SPEG	10290	broad.mit.edu	37	2	220355164	220355164	+	Silent	SNP	G	G	A			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr2:220355164G>A	uc010fwg.2	+	37	8955	c.8955G>A	c.(8953-8955)GAG>GAA	p.E2985E		NM_005876	NP_005867	Q15772	SPEG_HUMAN	SPEG complex locus	2985	Protein kinase 2.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			stomach(9)|ovary(4)|central_nervous_system(1)	14		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		CGTGCCGGGAGAATGCCACGG	0.672		NA											8	59					0	0	0	0
ANGPT4	51378	broad.mit.edu	37	20	870886	870886	+	Silent	SNP	C	C	T			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr20:870886C>T	uc002wei.2	-	2	538	c.435G>A	c.(433-435)CAG>CAA	p.Q145Q	ANGPT4_uc010zpn.1_Silent_p.Q139Q	NM_015985	NP_057069	Q9Y264	ANGP4_HUMAN	angiopoietin 4 precursor	145	Potential.				anti-apoptosis|blood coagulation|cellular response to hypoxia|leukocyte migration|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of peptidyl-tyrosine phosphorylation|signal transduction	extracellular space	receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity			ovary(2)	2						GCTTGCGGATCTGGGCAGTGG	0.622		NA											3	43					0	0	0	0
AVP	551	broad.mit.edu	37	20	3065205	3065205	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr20:3065205C>G	uc002whu.2	-	1	166	c.116G>C	c.(115-117)AGA>ACA	p.R39T		NM_000490	NP_000481	P01185	NEU2_HUMAN	arginine vasopressin-neurophysin II	39					cell-cell signaling|ERK1 and ERK2 cascade|generation of precursor metabolites and energy|negative regulation of apoptosis|negative regulation of release of cytochrome c from mitochondria|positive regulation of gene expression|positive regulation of peptidyl-serine phosphorylation|protein kinase C signaling cascade|sodium-independent organic anion transport|transmembrane transport|vasoconstriction|water transport	cytosol|soluble fraction	caspase inhibitor activity|neurohypophyseal hormone activity|protein kinase activity|signal transducer activity|V1A vasopressin receptor binding				0				COAD - Colon adenocarcinoma(99;0.00643)		AAGTACCTGTCTCAGCTCCAG	0.642		NA											5	155					0	0	0	0
PLCB4	5332	broad.mit.edu	37	20	9317800	9317800	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr20:9317800C>G	uc002wnf.2	+	4	248	c.112C>G	c.(112-114)CTC>GTC	p.L38V	PLCB4_uc010gbw.1_Missense_Mutation_p.L38V|PLCB4_uc010gbx.2_Missense_Mutation_p.L38V|PLCB4_uc002wne.2_Missense_Mutation_p.L38V	NM_182797	NP_877949	Q15147	PLCB4_HUMAN	phospholipase C beta 4 isoform b	38					intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			skin(11)|ovary(3)|pancreas(1)	15						ACCCAACTGCCTCTTCAAAGT	0.383		NA											3	75					0	0	0	0
BPIL1	80341	broad.mit.edu	37	20	31611154	31611154	+	Missense_Mutation	SNP	G	G	A	rs142508681		TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr20:31611154G>A	uc002wyj.2	+	16	1536	c.1342G>A	c.(1342-1344)GTG>ATG	p.V448M		NM_025227	NP_079503	Q8N4F0	BPIL1_HUMAN	bactericidal/permeability-increasing	448						extracellular region	lipid binding			skin(2)|large_intestine(1)|ovary(1)	4						TCAGGGCTACGTGGTGATATC	0.517		NA											6	57					0	0	0	0
TRPM2	7226	broad.mit.edu	37	21	45821618	45821618	+	Silent	SNP	C	C	T			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr21:45821618C>T	uc002zet.1	+	17	2589	c.2376C>T	c.(2374-2376)TTC>TTT	p.F792F	TRPM2_uc002zeu.1_Silent_p.F792F|TRPM2_uc002zew.1_Silent_p.F792F|TRPM2_uc010gpt.1_Silent_p.F792F|TRPM2_uc002zex.1_Silent_p.F578F|TRPM2_uc002zey.1_Silent_p.F305F	NM_003307	NP_003298	O94759	TRPM2_HUMAN	transient receptor potential cation channel,	792	Extracellular (Potential).					integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity			ovary(1)|central_nervous_system(1)|pancreas(1)	3						GTGCCTTCTTCACCGCACCCG	0.652		NA											17	193					0	0	0	0
SH3BP1	23616	broad.mit.edu	37	22	38041500	38041500	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr22:38041500G>A	uc003ati.2	+	10	1018	c.907G>A	c.(907-909)GAG>AAG	p.E303K	SH3BP1_uc003atg.1_RNA|SH3BP1_uc011anl.1_Missense_Mutation_p.E303K|SH3BP1_uc003ath.1_Missense_Mutation_p.E303K|SH3BP1_uc003atj.1_Missense_Mutation_p.E239K|SH3BP1_uc003atk.1_Missense_Mutation_p.E217K|uc003atl.1_Intron	NM_018957	NP_061830	Q9Y3L3	3BP1_HUMAN	SH3-domain binding protein 1	303	Rho-GAP.				signal transduction	cytoplasm	GTPase activator activity|SH3 domain binding			central_nervous_system(1)	1	Melanoma(58;0.0574)					GCTGCTTTCTGAGGGCATGAA	0.642		NA											14	85					0	0	0	0
MGAT3	4248	broad.mit.edu	37	22	39884499	39884499	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr22:39884499C>G	uc003axv.3	+	2	1386	c.1147C>G	c.(1147-1149)CGC>GGC	p.R383G	MGAT3_uc010gxy.2_Missense_Mutation_p.R383G	NM_002409	NP_002400	Q09327	MGAT3_HUMAN	mannosyl (beta-1,4-)-glycoprotein	383	Lumenal (Potential).				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	beta-1,4-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity				0	Melanoma(58;0.04)					CCGCCTGCGCCGCCGCCAGTA	0.657		NA											10	81					0	0	0	0
EP300	2033	broad.mit.edu	37	22	41568590	41568590	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr22:41568590G>A	uc003azl.3	+	28	4935	c.4540G>A	c.(4540-4542)GAA>AAA	p.E1514K		NM_001429	NP_001420	Q09472	EP300_HUMAN	E1A binding protein p300	1514					apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(22)|large_intestine(13)|breast(9)|central_nervous_system(5)|upper_aerodigestive_tract(4)|pancreas(4)|lung(3)|ovary(2)|stomach(1)|skin(1)	64						CAATGTTCTGGAAGAAAGCAT	0.398		NA	T| N|F|Mis|O	MLL|RUNXBP2	colorectal|breast|pancreatic|AML|ALL|DLBCL				Rubinstein-Taybi_syndrome				4	26					0	0	0	0
EP300	2033	broad.mit.edu	37	22	41574519	41574519	+	Silent	SNP	G	G	A			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr22:41574519G>A	uc003azl.3	+	31	7199	c.6804G>A	c.(6802-6804)CAG>CAA	p.Q2268Q		NM_001429	NP_001420	Q09472	EP300_HUMAN	E1A binding protein p300	2268					apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(22)|large_intestine(13)|breast(9)|central_nervous_system(5)|upper_aerodigestive_tract(4)|pancreas(4)|lung(3)|ovary(2)|stomach(1)|skin(1)	64						TTCAGCAACAGATGGGGTCCC	0.577		NA	T| N|F|Mis|O	MLL|RUNXBP2	colorectal|breast|pancreatic|AML|ALL|DLBCL				Rubinstein-Taybi_syndrome				4	92					0	0	0	0
NAGA	4668	broad.mit.edu	37	22	42461814	42461814	+	Silent	SNP	C	C	T			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr22:42461814C>T	uc003bbx.2	-	7	824	c.687G>A	c.(685-687)CTG>CTA	p.L229L	NAGA_uc003bby.2_Silent_p.L229L|NAGA_uc003bbw.3_Silent_p.L229L	NM_000262	NP_000253	P17050	NAGAB_HUMAN	alpha-N-acetylgalactosaminidase precursor	229					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						CGAACCAATTCAGGATGGAGA	0.577		NA											5	55					0	0	0	0
SMC1B	27127	broad.mit.edu	37	22	45802535	45802535	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr22:45802535C>T	uc003bgc.2	-	4	473	c.421G>A	c.(421-423)GAG>AAG	p.E141K	SMC1B_uc003bgd.2_Missense_Mutation_p.E141K|SMC1B_uc003bge.1_5'UTR	NM_148674	NP_683515	Q8NDV3	SMC1B_HUMAN	SMC1 structural maintenance of chromosomes	141					chromosome organization|meiosis	chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nucleus	ATP binding			ovary(2)	2		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		GAAATTGACTCTACAGTTCCC	0.318		NA											6	56					0	0	0	0
CRBN	51185	broad.mit.edu	37	3	3215782	3215782	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr3:3215782A>G	uc003bpq.2	-	3	357	c.338T>C	c.(337-339)TTA>TCA	p.L113S	CRBN_uc003bpr.2_Missense_Mutation_p.L112S|CRBN_uc010hbw.2_Missense_Mutation_p.L113S|CRBN_uc011aso.1_Missense_Mutation_p.L50S	NM_016302	NP_057386	Q96SW2	CRBN_HUMAN	cereblon	113	Lon.				proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination	Cul4A-RING ubiquitin ligase complex|cytoplasm|membrane|nucleus	ATP-dependent peptidase activity|protein binding			ovary(1)	1				Epithelial(13;0.00244)|OV - Ovarian serous cystadenocarcinoma(96;0.00617)|all cancers(10;0.0079)		TTTCTGAATTAAATTCCGCAC	0.408		NA											4	54					0	0	0	0
DLEC1	9940	broad.mit.edu	37	3	38081059	38081059	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr3:38081059G>A	uc003cho.1	+	1	364	c.343G>A	c.(343-345)GCA>ACA	p.A115T	DLEC1_uc003chp.1_Missense_Mutation_p.A115T|DLEC1_uc010hgv.1_Missense_Mutation_p.A115T	NM_007335	NP_031361	Q9Y238	DLEC1_HUMAN	deleted in lung and esophageal cancer 1 isoform	115					negative regulation of cell proliferation	cytoplasm				ovary(2)|pancreas(2)|central_nervous_system(2)|skin(2)|breast(1)	9				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		CGAAGTGAGCGCAAGCTTGAT	0.642		NA											4	114					0	0	0	0
SNRK	54861	broad.mit.edu	37	3	43381993	43381993	+	Splice_Site	SNP	T	T	C			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr3:43381993T>C	uc003cms.3	+	5	1276	c.944_splice	c.e5+2	p.E315_splice	SNRK_uc003cmt.3_Splice_Site_p.E315_splice|SNRK_uc010hik.2_Splice_Site_p.E315_splice|SNRK_uc011azr.1_Splice_Site_p.E109_splice	NM_017719	NP_060189	Q9NRH2	SNRK_HUMAN	SNF related kinase						myeloid cell differentiation	nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			ovary(3)|stomach(1)|breast(1)|skin(1)	6				KIRC - Kidney renal clear cell carcinoma(284;0.0636)|Kidney(284;0.0792)		CATTGTAGAGTACGTCAATGC	0.488		NA											5	38					0	0	0	0
COL7A1	1294	broad.mit.edu	37	3	48629337	48629337	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr3:48629337C>G	uc003ctz.2	-	10	1352	c.1351G>C	c.(1351-1353)GAG>CAG	p.E451Q		NM_000094	NP_000085	Q02388	CO7A1_HUMAN	alpha 1 type VII collagen precursor	451	Nonhelical region (NC1).|Fibronectin type-III 3.				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			ovary(4)|breast(3)|skin(3)|central_nervous_system(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		TGACCAGTCTCACGCCGCCAT	0.632		NA											14	105					0	0	0	0
SLMAP	7871	broad.mit.edu	37	3	57875802	57875802	+	Silent	SNP	G	G	A	rs148417939		TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr3:57875802G>A	uc003dje.1	+	13	1489	c.1284G>A	c.(1282-1284)GCG>GCA	p.A428A	SLMAP_uc003djc.1_Silent_p.A424A|SLMAP_uc003djd.1_Silent_p.A411A|SLMAP_uc003djf.1_Silent_p.A390A|SLMAP_uc003djg.1_Intron|SLMAP_uc011bez.1_5'UTR|SLMAP_uc011bfa.1_5'UTR|SLMAP_uc003djh.2_5'UTR|SLMAP_uc003dji.1_5'UTR	NM_007159	NP_009090	Q14BN4	SLMAP_HUMAN	sarcolemma associated protein	428	Cytoplasmic (Potential).				muscle contraction|protein folding	integral to plasma membrane|microtubule organizing center|prefoldin complex|sarcolemma|smooth endoplasmic reticulum	unfolded protein binding				0				BRCA - Breast invasive adenocarcinoma(55;0.000271)|KIRC - Kidney renal clear cell carcinoma(284;0.0602)|Kidney(284;0.0754)|OV - Ovarian serous cystadenocarcinoma(275;0.182)		TAACCAAAGCGGTAGAAGAAA	0.393		NA											3	51					0	0	0	0
ALCAM	214	broad.mit.edu	37	3	105253681	105253681	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr3:105253681A>G	uc003dvx.2	+	6	1262	c.722A>G	c.(721-723)GAT>GGT	p.D241G	ALCAM_uc003dvw.1_Missense_Mutation_p.D241G|ALCAM_uc003dvy.2_Missense_Mutation_p.D241G|ALCAM_uc011bhh.1_Missense_Mutation_p.D190G|ALCAM_uc010hpp.2_Missense_Mutation_p.D50G	NM_001627	NP_001618	Q13740	CD166_HUMAN	activated leukocyte cell adhesion molecule	241	Extracellular (Potential).				cell adhesion|signal transduction	integral to membrane	receptor binding			ovary(2)|breast(1)	3						GCAGTATTTGATATTTACTGT	0.323		NA											6	31					0	0	0	0
STXBP5L	9515	broad.mit.edu	37	3	120977900	120977900	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr3:120977900C>T	uc003eec.3	+	18	1983	c.1843C>T	c.(1843-1845)CGG>TGG	p.R615W	STXBP5L_uc011bji.1_Missense_Mutation_p.R615W	NM_014980	NP_055795	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	615	WD 9.				exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane				ovary(7)|skin(2)	9				GBM - Glioblastoma multiforme(114;0.0694)		TGTGAAGACACGGCCAGTGCG	0.373		NA											4	32					0	0	0	0
PIK3CA	5290	broad.mit.edu	37	3	178938934	178938934	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr3:178938934G>A	uc003fjk.2	+	14	2333	c.2176G>A	c.(2176-2178)GAA>AAA	p.E726K		NM_006218	NP_006209	P42336	PK3CA_HUMAN	phosphoinositide-3-kinase, catalytic, alpha	726					epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.E726K(2)		breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1)	3553	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			GAAGAAGGATGAAACACAAAA	0.363		57	Mis		colorectal|gastric|gliobastoma|breast					HNSCC(19;0.045)|TSP Lung(28;0.18)			8	28					0	0	0	0
CEP135	9662	broad.mit.edu	37	4	56830508	56830508	+	Silent	SNP	C	C	A			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr4:56830508C>A	uc003hbi.2	+	7	1002	c.768C>A	c.(766-768)GTC>GTA	p.V256V	CEP135_uc003hbj.2_5'Flank|CEP135_uc010igz.1_Silent_p.V86V	NM_025009	NP_079285	Q66GS9	CP135_HUMAN	centrosome protein 4	256	Potential.				centriole replication|centriole-centriole cohesion|G2/M transition of mitotic cell cycle	centriole|cytosol	protein C-terminus binding			ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5	Glioma(25;0.08)|all_neural(26;0.101)					CCCCTGATGTCCTTTCTCTGG	0.353		NA											5	38					1.24e-05	1.35e-05	1	0
UGT2B10	7365	broad.mit.edu	37	4	69885688	69885688	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr4:69885688T>C	uc011cao.1	-	4	437	c.301A>G	c.(301-303)AAA>GAA	p.K101E	UGT2B10_uc011can.1_Missense_Mutation_p.K101E			P36537	UDB10_HUMAN	RecName: Full=UDP-glucuronosyltransferase 2B28;          Short=UDPGT 2B28;          EC=2.4.1.17; Flags: Precursor;	138					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			skin(3)|ovary(2)	5						TCTTGTAGTTTTTTCATAAGT	0.333		NA											5	35					0	0	0	0
ENAM	10117	broad.mit.edu	37	4	71509145	71509145	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr4:71509145C>T	uc011caw.1	+	9	2283	c.2002C>T	c.(2002-2004)CAA>TAA	p.Q668*		NM_031889	NP_114095	Q9NRM1	ENAM_HUMAN	enamelin precursor	668					bone mineralization|odontogenesis	proteinaceous extracellular matrix	structural constituent of tooth enamel			ovary(3)	3			Lung(101;0.235)			CTTTCCTGGACAAAATAGATG	0.443		NA											9	74					0	0	0	0
NUP54	53371	broad.mit.edu	37	4	77057369	77057369	+	Silent	SNP	G	G	A			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr4:77057369G>A	uc003hjs.2	-	4	620	c.492C>T	c.(490-492)TTC>TTT	p.F164F	NUP54_uc010ije.2_Intron|NUP54_uc011cbs.1_Intron|NUP54_uc011cbt.1_Silent_p.F116F|NUP54_uc003hjt.2_Intron	NM_017426	NP_059122	Q7Z3B4	NUP54_HUMAN	nucleoporin 54kDa	164	9 X 2 AA repeats of F-G.				carbohydrate metabolic process|glucose transport|mRNA transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleoplasm				ovary(1)|lung(1)	2						TTTCTTGTGTGAATTCCACTG	0.323		NA											5	61					0	0	0	0
NAP1L5	266812	broad.mit.edu	37	4	89618774	89618774	+	Silent	SNP	A	A	G			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr4:89618774A>G	uc003hrx.2	-	1	250	c.132T>C	c.(130-132)CCT>CCC	p.P44P	HERC3_uc003hrw.1_Intron|HERC3_uc011cdn.1_Intron|HERC3_uc011cdo.1_Intron	NM_153757	NP_715638	Q96NT1	NP1L5_HUMAN	nucleosome assembly protein 1-like 5	44					nucleosome assembly	nucleus	protein binding			skin(1)	1				OV - Ovarian serous cystadenocarcinoma(123;0.000181)		CCGCGCTGTCAGGGTCACCAg	0.343		NA											3	109					0	0	0	0
PDLIM5	10611	broad.mit.edu	37	4	95497118	95497118	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr4:95497118G>A	uc003hti.2	+	5	794	c.643G>A	c.(643-645)GAG>AAG	p.E215K	PDLIM5_uc003htf.2_Intron|PDLIM5_uc003htg.2_Missense_Mutation_p.E106K|PDLIM5_uc011cdx.1_Missense_Mutation_p.E106K|PDLIM5_uc003hth.2_Missense_Mutation_p.E106K|PDLIM5_uc003htj.2_Intron|PDLIM5_uc003htk.2_Missense_Mutation_p.E106K|PDLIM5_uc011cdy.1_Missense_Mutation_p.E93K	NM_006457	NP_006448	Q96HC4	PDLI5_HUMAN	PDZ and LIM domain 5 isoform a	215					regulation of dendritic spine morphogenesis|regulation of synaptogenesis	actin cytoskeleton|cell junction|cytosol|postsynaptic density|postsynaptic membrane|synaptosome	actin binding|actinin binding|protein kinase C binding|zinc ion binding			ovary(1)|skin(1)	2		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.84e-09)		CGTGTGTTCCGAGACTTCTCA	0.512		NA											11	60					0	0	0	0
LRIT3	345193	broad.mit.edu	37	4	110791477	110791477	+	Silent	SNP	G	G	T			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr4:110791477G>T	uc003hzx.3	+	3	1630	c.1437G>T	c.(1435-1437)GGG>GGT	p.G479G	LRIT3_uc003hzw.3_Silent_p.G341G	NM_198506	NP_940908	Q3SXY7	LRIT3_HUMAN	leucine-rich repeat, immunoglobulin-like and	479	Fibronectin type-III.					integral to membrane					0				OV - Ovarian serous cystadenocarcinoma(123;0.0011)		AGTATGGTGGGAAGGACCTGC	0.483		NA											16	114					2e-07	2.19e-07	1	0
KIAA1109	84162	broad.mit.edu	37	4	123159467	123159467	+	Silent	SNP	G	G	A			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr4:123159467G>A	uc003ieh.2	+	26	3840	c.3795G>A	c.(3793-3795)GAG>GAA	p.E1265E	KIAA1109_uc003iei.1_Silent_p.E1018E|KIAA1109_uc010ins.1_Silent_p.E608E|KIAA1109_uc003iek.2_5'Flank	NM_015312	NP_056127	Q2LD37	K1109_HUMAN	fragile site-associated protein	1265					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				ovary(8)|skin(2)|pancreas(1)|central_nervous_system(1)	12						TTCAAAAAGAGTTCTTGCATG	0.388		NA											8	60					0	0	0	0
FAT1	2195	broad.mit.edu	37	4	187535344	187535344	+	Splice_Site	SNP	C	C	T			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr4:187535344C>T	uc003izf.2	-	12	9417	c.9229_splice	c.e12+1	p.G3077_splice		NM_005245	NP_005236	Q14517	FAT1_HUMAN	FAT tumor suppressor 1 precursor						actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			ovary(10)|central_nervous_system(1)|pancreas(1)	12						TCCATCATTACCTGTGTCTGG	0.368		NA								HNSCC(5;0.00058)			36	108					0	0	0	0
SLC6A3	6531	broad.mit.edu	37	5	1416262	1416262	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr5:1416262C>A	uc003jck.2	-	7	1103	c.982G>T	c.(982-984)GTG>TTG	p.V328L		NM_001044	NP_001035	Q01959	SC6A3_HUMAN	solute carrier family 6 (neurotransmitter	328	Helical; Name=6; (Potential).				cell death|neurotransmitter biosynthetic process	axon|cytoplasm|integral to plasma membrane|neuronal cell body				ovary(3)|breast(2)|pancreas(1)	6			OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		Amphetamine(DB00182)|Benztropine(DB00245)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Duloxetine(DB00476)|Fencamfamine(DB01463)|Mazindol(DB00579)|Methylphenidate(DB00422)|Modafinil(DB00745)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)	GCGATCAGCACCCCGAACCCC	0.617		NA											4	61					0.00909568	0.00947732	1	0
MARCH6	10299	broad.mit.edu	37	5	10423860	10423860	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr5:10423860G>C	uc003jet.1	+	23	2480	c.2297G>C	c.(2296-2298)GGA>GCA	p.G766A	MARCH6_uc011cmu.1_Missense_Mutation_p.G718A|MARCH6_uc003jeu.1_Missense_Mutation_p.G464A|MARCH6_uc011cmv.1_Missense_Mutation_p.G661A	NM_005885	NP_005876	O60337	MARH6_HUMAN	membrane-associated ring finger (C3HC4) 6	766	Helical; (Potential).				protein K48-linked ubiquitination	integral to endoplasmic reticulum membrane	ubiquitin conjugating enzyme binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)|breast(1)	2						TGGGCACTTGGAGTCCTGCAT	0.358		NA											3	25					0	0	0	0
CTNND2	1501	broad.mit.edu	37	5	11346704	11346704	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr5:11346704G>A	uc003jfa.1	-	9	1553	c.1408C>T	c.(1408-1410)CAG>TAG	p.Q470*	CTNND2_uc010itt.2_Nonsense_Mutation_p.Q379*|CTNND2_uc011cmy.1_Nonsense_Mutation_p.Q133*|CTNND2_uc011cmz.1_Nonsense_Mutation_p.Q37*|CTNND2_uc010itu.1_RNA|CTNND2_uc011cmx.1_Nonsense_Mutation_p.Q37*	NM_001332	NP_001323	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	470					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			large_intestine(2)|ovary(2)|skin(2)|pancreas(1)|lung(1)	8						CCTGTGCGCTGCAAGGGGACG	0.607		NA											7	58					0	0	0	0
MAST4	375449	broad.mit.edu	37	5	66461496	66461496	+	Silent	SNP	G	G	A			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr5:66461496G>A	uc003jut.1	+	28	5990	c.5922G>A	c.(5920-5922)CCG>CCA	p.P1974P	MAST4_uc003juw.2_Silent_p.P1902P|MAST4_uc003jux.2_5'Flank	NM_015183	NP_055998	O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase	2166	Pro-rich.					cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			lung(6)|ovary(2)|kidney(2)|breast(2)|central_nervous_system(1)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		GCAGAGAGCCGGGGGCCAAGC	0.682		NA											3	11					0	0	0	0
CD180	4064	broad.mit.edu	37	5	66479817	66479817	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr5:66479817C>T	uc003juy.2	-	3	1002	c.854G>A	c.(853-855)CGC>CAC	p.R285H		NM_005582	NP_005573	Q99467	CD180_HUMAN	CD180 molecule precursor	285	Extracellular (Potential).|LRR 8.				inflammatory response|innate immune response	integral to membrane|plasma membrane	receptor activity			ovary(1)	1		Lung NSC(167;4.94e-05)|Prostate(74;0.00601)|Ovarian(174;0.0654)|Breast(144;0.198)|Colorectal(97;0.234)		Lung(70;0.0046)		GTCAGAGAAGCGGTGTTCCTG	0.473		NA											12	70					0	0	0	0
CCDC125	202243	broad.mit.edu	37	5	68590675	68590675	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr5:68590675G>A	uc003jvv.1	-	8	912	c.869C>T	c.(868-870)TCT>TTT	p.S290F	CCDC125_uc003jvx.1_Missense_Mutation_p.S289F|CCDC125_uc003jvy.1_RNA|CCDC125_uc003jvw.2_Missense_Mutation_p.S165F	NM_176816	NP_789786	Q86Z20	CC125_HUMAN	coiled-coil domain containing 125	290						cytoplasm					0		Lung NSC(167;7.26e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;2.2e-56)|Epithelial(20;2.31e-52)|all cancers(19;5.85e-48)|Lung(70;0.0183)		TCTGGCACAAGAACAGGGGTT	0.463		NA											14	171					0	0	0	0
LNPEP	4012	broad.mit.edu	37	5	96314945	96314945	+	Silent	SNP	T	T	C			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr5:96314945T>C	uc003kmv.1	+	2	637	c.123T>C	c.(121-123)CCT>CCC	p.P41P	LNPEP_uc003kmw.1_Silent_p.P27P	NM_005575	NP_005566	Q9UIQ6	LCAP_HUMAN	leucyl/cystinyl aminopeptidase isoform 1	41	Cytoplasmic (Potential).				cell-cell signaling|female pregnancy|proteolysis	extracellular region|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			ovary(3)|breast(1)	4		all_cancers(142;7e-07)|all_epithelial(76;9.52e-10)|all_lung(232;0.00101)|Lung NSC(167;0.00137)|Ovarian(225;0.024)|Colorectal(57;0.0269)|Breast(839;0.244)		COAD - Colon adenocarcinoma(37;0.072)		CTCTAGAGCCTGATGAGGTGG	0.502		NA											3	111					0	0	0	0
RIOK2	55781	broad.mit.edu	37	5	96498921	96498921	+	Silent	SNP	C	C	T			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr5:96498921C>T	uc003kmz.2	-	10	1613	c.1503G>A	c.(1501-1503)GTG>GTA	p.V501V		NM_018343	NP_060813	Q9BVS4	RIOK2_HUMAN	RIO kinase 2 isoform 1	501	Protein kinase.						ATP binding|protein serine/threonine kinase activity			kidney(1)	1		all_cancers(142;0.000125)|all_epithelial(76;8.48e-07)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0676)|Ovarian(225;0.105)		COAD - Colon adenocarcinoma(37;0.0657)		CCTTCTGTTTCACCAGTTCCT	0.353		NA											4	41					0	0	0	0
GFRA3	2676	broad.mit.edu	37	5	137593489	137593489	+	Silent	SNP	G	G	A			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr5:137593489G>A	uc003lcn.2	-	4	764	c.624C>T	c.(622-624)GCC>GCT	p.A208A	GFRA3_uc003lco.2_Silent_p.A177A	NM_001496	NP_001487	O60609	GFRA3_HUMAN	GDNF family receptor alpha 3 preproprotein	208					peripheral nervous system development	anchored to membrane|cytoplasm|extrinsic to membrane|intracellular membrane-bounded organelle	receptor binding			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			CGTGGGGCTCGGCGGCCTTCT	0.726		NA											10	56					0	0	0	0
PCDHB9	56127	broad.mit.edu	37	5	140569021	140569021	+	Silent	SNP	G	G	A			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr5:140569021G>A	uc003liw.1	+	3	2130	c.2130G>A	c.(2128-2130)GCG>GCA	p.A710A	PCDHB10_uc003lix.2_5'Flank	NM_019119	NP_061992	Q9Y5E1	PCDB9_HUMAN	protocadherin beta 9 precursor	710	Helical; (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGTTCGTGGCGGTGCGGCTGT	0.697		NA											26	234					0	0	0	0
PCDHGA7	56108	broad.mit.edu	37	5	140764270	140764270	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr5:140764270G>T	uc003lka.1	+	1	1804	c.1804G>T	c.(1804-1806)GCC>TCC	p.A602S	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_uc003ljz.1_Missense_Mutation_p.A602S	NM_018920	NP_061743	Q9Y5G6	PCDG7_HUMAN	protocadherin gamma subfamily A, 7 isoform 1	602	Extracellular (Potential).|Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGCCAGAACGCCTGGCTGTC	0.642		NA											11	118					1.58e-08	1.75e-08	1	0
DPYSL3	1809	broad.mit.edu	37	5	146804509	146804509	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr5:146804509G>C	uc003lon.1	-	2	167	c.57C>G	c.(55-57)ATC>ATG	p.I19M	DPYSL3_uc003loo.2_Missense_Mutation_p.I133M	NM_001387	NP_001378	Q14195	DPYL3_HUMAN	dihydropyrimidinase-like 3	19					axon guidance|pyrimidine base catabolic process|signal transduction	cytosol|growth cone	dihydropyrimidinase activity			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCCTCCCTTGATAAGGAGAC	0.368		NA											6	64					0	0	0	0
HK3	3101	broad.mit.edu	37	5	176310832	176310832	+	Silent	SNP	C	C	T			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr5:176310832C>T	uc003mfa.2	-	15	2084	c.1992G>A	c.(1990-1992)ACG>ACA	p.T664T	HK3_uc003mez.2_Silent_p.T220T	NM_002115	NP_002106	P52790	HXK3_HUMAN	hexokinase 3	664	Catalytic.				glucose transport|glycolysis|transmembrane transport	cytosol|membrane	ATP binding|glucokinase activity			ovary(3)|large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|breast(1)|skin(1)	7	all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TGGTCCCCACCGTGTCATTGA	0.582		NA											11	123					0	0	0	0
HFE	3077	broad.mit.edu	37	6	26093372	26093372	+	Silent	SNP	C	C	T			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr6:26093372C>T	uc003nfx.1	+	5	1078	c.918C>T	c.(916-918)GTC>GTT	p.V306V	HFE_uc003nfy.1_Silent_p.V283V|HFE_uc010jqe.1_Silent_p.V303V|HFE_uc003nfz.1_Silent_p.V218V|HFE_uc003ngd.1_Silent_p.V204V|HFE_uc003nga.1_Silent_p.V292V|HFE_uc003ngb.1_Silent_p.V200V|HFE_uc003ngc.1_Silent_p.V214V|HFE_uc003nge.1_Silent_p.V126V|HFE_uc003ngf.1_Silent_p.V34V	NM_000410	NP_000401	Q30201	HFE_HUMAN	hemochromatosis protein isoform 1 precursor	306	Connecting peptide.|Extracellular (Potential).				antigen processing and presentation of peptide antigen via MHC class I|cellular iron ion homeostasis|immune response|iron ion transport|protein complex assembly|receptor-mediated endocytosis	apical part of cell|basal part of cell|cytoplasmic vesicle|early endosome|integral to plasma membrane|MHC class I protein complex|perinuclear region of cytoplasm|recycling endosome	protein binding				0						GCACCCTAGTCATTGGAGTCA	0.443		NA							Hemochromatosis				5	46					0	0	0	0
HIST1H2BH	8345	broad.mit.edu	37	6	26252218	26252218	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr6:26252218G>C	uc003nhh.2	+	1	340	c.340G>C	c.(340-342)GAG>CAG	p.E114Q	HIST1H3F_uc003nhg.1_5'Flank	NM_003524	NP_003515	Q93079	H2B1H_HUMAN	histone cluster 1, H2bh	114					nucleosome assembly	nucleosome|nucleus	DNA binding			ovary(3)	3						CGCCGTGTCCGAGGGCACTAA	0.537		NA											4	87					0	0	0	0
SLC29A1	2030	broad.mit.edu	37	6	44201176	44201176	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr6:44201176G>C	uc003owu.1	+	13	1611	c.1282G>C	c.(1282-1284)GAG>CAG	p.E428Q	SLC29A1_uc003owv.1_Missense_Mutation_p.E428Q|SLC29A1_uc003oww.1_Missense_Mutation_p.E507Q|SLC29A1_uc003owx.1_Missense_Mutation_p.E428Q|SLC29A1_uc003owy.1_Missense_Mutation_p.E428Q|SLC29A1_uc003owz.1_Missense_Mutation_p.E428Q	NM_004955	NP_004946	Q99808	S29A1_HUMAN	equilibrative nucleoside transporter 1	428	Cytoplasmic (Potential).				nucleobase, nucleoside and nucleotide metabolic process	apical plasma membrane|basolateral plasma membrane|integral to plasma membrane|membrane fraction	nucleoside transmembrane transporter activity|protein binding			large_intestine(2)|skin(1)	3	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		Troglitazone(DB00197)	AGCTGAGGCAGAGACCGCAGG	0.587		NA											10	154					0	0	0	0
RUNX2	860	broad.mit.edu	37	6	45480007	45480007	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr6:45480007C>T	uc011dvx.1	+	7	1094	c.884C>T	c.(883-885)CCG>CTG	p.P295L	RUNX2_uc011dvy.1_Missense_Mutation_p.P295L|RUNX2_uc003oxt.2_Missense_Mutation_p.P281L	NM_001024630	NP_001019801	Q13950	RUNX2_HUMAN	runt-related transcription factor 2 isoform a	295	Pro/Ser/Thr-rich.				negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			ovary(2)|skin(1)	3						CAGTCTTCCCCGCCGTGGTCC	0.532		NA											8	95					0	0	0	0
THEMIS	387357	broad.mit.edu	37	6	128134839	128134839	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr6:128134839G>A	uc003qbi.2	-	5	1266	c.947C>T	c.(946-948)TCA>TTA	p.S316L	THEMIS_uc010kfa.2_Missense_Mutation_p.S219L|THEMIS_uc011ebt.1_Missense_Mutation_p.S316L|THEMIS_uc010kfb.2_Missense_Mutation_p.S281L	NM_001010923	NP_001010923	Q8N1K5	THMS1_HUMAN	thymocyte selection pathway associated isoform	316	CABIT 2.				negative T cell selection|positive T cell selection|T cell receptor signaling pathway	cytoplasm|nucleus				ovary(2)|skin(2)	4						TAAGATTCTTGATGCCTGGTA	0.438		NA											4	115					0	0	0	0
ENPP1	5167	broad.mit.edu	37	6	132201070	132201070	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr6:132201070C>T	uc011ecf.1	+	20	2016	c.1996C>T	c.(1996-1998)CAG>TAG	p.Q666*		NM_006208	NP_006199	P22413	ENPP1_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase	666	Nuclease.|Extracellular (Potential).				3'-phosphoadenosine 5'-phosphosulfate metabolic process|biomineral tissue development|cellular phosphate ion homeostasis|cellular response to insulin stimulus|generation of precursor metabolites and energy|immune response|inorganic diphosphate transport|negative regulation of cell growth|negative regulation of fat cell differentiation|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of protein autophosphorylation|nucleoside triphosphate catabolic process|phosphate metabolic process|sequestering of triglyceride|water-soluble vitamin metabolic process	basolateral plasma membrane|cell surface|extracellular space|integral to membrane	ATP binding|insulin receptor binding|metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|protein homodimerization activity|scavenger receptor activity			upper_aerodigestive_tract(2)|ovary(2)	4	Breast(56;0.0505)			GBM - Glioblastoma multiforme(226;0.0216)|OV - Ovarian serous cystadenocarcinoma(155;0.022)	Amifostine(DB01143)|Ribavirin(DB00811)	TAGAGTTCTCCAGAAGGAAAA	0.403		NA											9	80					0	0	0	0
SYNE1	23345	broad.mit.edu	37	6	152772295	152772295	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr6:152772295C>G	uc010kiw.2	-	26	3675	c.3073G>C	c.(3073-3075)GAT>CAT	p.D1025H	SYNE1_uc003qot.3_Missense_Mutation_p.D1032H|SYNE1_uc003qou.3_Missense_Mutation_p.D1025H|SYNE1_uc010kjb.1_Missense_Mutation_p.D1008H|SYNE1_uc003qow.2_Missense_Mutation_p.D320H|SYNE1_uc003qox.1_Missense_Mutation_p.D541H	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1025	Cytoplasmic (Potential).				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TTCTCCACATCAATCTTCAGA	0.413		NA								HNSCC(10;0.0054)			6	89					0	0	0	0
ARID1B	57492	broad.mit.edu	37	6	157256619	157256619	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr6:157256619A>G	uc003qqn.2	+	4	1885	c.1733A>G	c.(1732-1734)TAT>TGT	p.Y578C	ARID1B_uc003qqo.2_Missense_Mutation_p.Y591C|ARID1B_uc003qqp.2_Missense_Mutation_p.Y578C|ARID1B_uc003qqq.1_Missense_Mutation_p.Y6C	NM_017519	NP_059989	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	636					chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			ovary(1)|breast(1)	2		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		CAGGAAGGCTATGGAACTAGA	0.363		NA											13	92					0	0	0	0
MEOX2	4223	broad.mit.edu	37	7	15725557	15725557	+	Silent	SNP	C	C	T			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr7:15725557C>T	uc003stc.2	-	1	752	c.471G>A	c.(469-471)GCG>GCA	p.A157A	MEOX2_uc011jxw.1_Silent_p.A157A	NM_005924	NP_005915	P50222	MEOX2_HUMAN	mesenchyme homeobox 2	157					blood circulation|multicellular organismal development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)|central_nervous_system(1)	2				UCEC - Uterine corpus endometrioid carcinoma (126;0.0822)		TCTCCGCCTCCGCAGGTGACA	0.711		NA											15	200					0	0	0	0
DDC	1644	broad.mit.edu	37	7	50534944	50534944	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr7:50534944C>T	uc003tpf.3	-	13	1296	c.1210G>A	c.(1210-1212)GTC>ATC	p.V404I	DDC_uc010kza.2_Missense_Mutation_p.V319I|DDC_uc003tpg.3_Missense_Mutation_p.V404I	NM_000790	NP_000781	P20711	DDC_HUMAN	dopa decarboxylase (aromatic L-amino acid	404					cellular amino acid metabolic process|hormone biosynthetic process|neurotransmitter secretion	cytosol	aromatic-L-amino-acid decarboxylase activity|protein binding|pyridoxal phosphate binding			ovary(2)	2	Glioma(55;0.08)|all_neural(89;0.245)				Amantadine(DB00915)|Carbidopa(DB00190)|Flupenthixol(DB00875)|L-Tryptophan(DB00150)|Levodopa(DB01235)|Pimozide(DB01100)|Pyridoxal Phosphate(DB00114)|Remoxipride(DB00409)	CCCAGAATGACTTCCACACAG	0.448		NA											20	128					0	0	0	0
ZNF107	51427	broad.mit.edu	37	7	64168431	64168431	+	Silent	SNP	A	A	G			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr7:64168431A>G	uc003ttd.2	+	7	2535	c.1749A>G	c.(1747-1749)GAA>GAG	p.E583E	ZNF107_uc003tte.2_Silent_p.E583E	NM_016220	NP_057304	Q9UII5	ZN107_HUMAN	zinc finger protein 107	583	C2H2-type 19; atypical.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Lung NSC(55;0.00948)|all_lung(88;0.0249)				ACAAATTTGAAGAACATGGAA	0.338		NA											3	77					0	0	0	0
AP4M1	9179	broad.mit.edu	37	7	99701070	99701070	+	Silent	SNP	G	G	A			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr7:99701070G>A	uc003utb.3	+	5	598	c.390G>A	c.(388-390)CTG>CTA	p.L130L	MCM7_uc003usv.1_5'Flank|MCM7_uc003usw.1_5'Flank|MCM7_uc003usx.1_5'Flank|AP4M1_uc011kjg.1_Intron|AP4M1_uc010lgl.1_Silent_p.L130L|AP4M1_uc003utc.3_Silent_p.L137L|AP4M1_uc010lgm.2_Silent_p.L2L|AP4M1_uc003utd.2_Silent_p.L130L|AP4M1_uc011kjh.1_Silent_p.L82L|AP4M1_uc003ute.3_5'UTR|AP4M1_uc003utf.3_Silent_p.L2L	NM_004722	NP_004713	O00189	AP4M1_HUMAN	adaptor-related protein complex 4, mu 1 subunit	130					intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|coated pit|Golgi trans cisterna	transporter activity				0	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CGGAGATGCTGAGGAATTTCA	0.537		NA											8	70					0	0	0	0
FAM71F1	84691	broad.mit.edu	37	7	128356921	128356921	+	Silent	SNP	C	C	T			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr7:128356921C>T	uc003vno.1	+	2	357	c.304C>T	c.(304-306)CTG>TTG	p.L102L	FAM71F1_uc010llo.1_Silent_p.L3L|FAM71F1_uc011koq.1_Missense_Mutation_p.P26L|FAM71F1_uc003vnm.1_RNA|FAM71F1_uc003vnn.1_Missense_Mutation_p.P23L|FAM71F1_uc010llp.1_RNA|FAM71F1_uc003vnp.1_Silent_p.L102L	NM_032599	NP_115988	Q96KD3	F71F1_HUMAN	testes development-related NYD-SP18	102										skin(1)	1						CACCATGGCCCTGGGGGTGAC	0.577		NA											6	32					0	0	0	0
PLXNA4	91584	broad.mit.edu	37	7	131913119	131913119	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr7:131913119G>A	uc003vra.3	-	6	1943	c.1714C>T	c.(1714-1716)CAG>TAG	p.Q572*		NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN	plexin A4 isoform 1	572	Extracellular (Potential).					integral to membrane|intracellular|plasma membrane				ovary(1)	1						ACGTTGTACTGAGAGACGGAG	0.592		NA											5	40					0	0	0	0
ATP6V0A4	50617	broad.mit.edu	37	7	138455987	138455987	+	Silent	SNP	C	C	T			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr7:138455987C>T	uc003vuf.2	-	2	244	c.6G>A	c.(4-6)GTG>GTA	p.V2V	ATP6V0A4_uc003vug.2_Silent_p.V2V|ATP6V0A4_uc003vuh.2_Silent_p.V2V	NM_130841	NP_570856	Q9HBG4	VPP4_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit	2	Cytoplasmic (Potential).				cellular iron ion homeostasis|excretion|insulin receptor signaling pathway|ossification|regulation of pH|sensory perception of sound|transferrin transport	apical plasma membrane|brush border membrane|endosome membrane|integral to membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity			pancreas(1)	1						GAAACACAGACACCATCTTGG	0.423		NA											13	154					0	0	0	0
CUL1	8454	broad.mit.edu	37	7	148487477	148487477	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr7:148487477C>T	uc010lpg.2	+	16	2276	c.1750C>T	c.(1750-1752)CAG>TAG	p.Q584*	CUL1_uc003wey.2_Nonsense_Mutation_p.Q584*|CUL1_uc003wez.2_Nonsense_Mutation_p.Q474*|CUL1_uc003wfa.2_Nonsense_Mutation_p.Q245*	NM_003592	NP_003583	Q13616	CUL1_HUMAN	cullin 1	584					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein ubiquitination|S phase of mitotic cell cycle|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	cytosol|nucleoplasm|SCF ubiquitin ligase complex	ubiquitin protein ligase binding			lung(1)	1	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00291)			GTGGTTATATCAGTTGTCTAA	0.358		NA											5	59					0	0	0	0
C8orf79	57604	broad.mit.edu	37	8	12878806	12878806	+	Silent	SNP	G	G	A			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr8:12878806G>A	uc010lsq.2	+	5	1110	c.618G>A	c.(616-618)CAG>CAA	p.Q206Q	C8orf79_uc011kxw.1_Intron|C8orf79_uc003wwj.3_Silent_p.Q119Q|C8orf79_uc010lsr.2_Silent_p.Q80Q	NM_020844	NP_065895	Q9P272	K1456_HUMAN	hypothetical protein LOC57604 isoform 1	206							methyltransferase activity				0						TTAAAGAGCAGTGTGGTTCAA	0.478		NA											12	106					0	0	0	0
EXTL3	2137	broad.mit.edu	37	8	28573933	28573933	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr8:28573933G>C	uc003xgz.1	+	3	950	c.357G>C	c.(355-357)AAG>AAC	p.K119N		NM_001440	NP_001431	O43909	EXTL3_HUMAN	exostoses-like 3	119	Lumenal (Potential).					integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|metal ion binding|protein binding			skin(2)	2		Ovarian(32;0.069)		KIRC - Kidney renal clear cell carcinoma(542;0.107)|Kidney(114;0.129)|Colorectal(74;0.228)		CCTGTAAGAAGAGCATTGAGA	0.562		NA											8	24					0	0	0	0
RP1	6101	broad.mit.edu	37	8	55542326	55542326	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr8:55542326A>G	uc003xsd.1	+	4	6032	c.5884A>G	c.(5884-5886)ACA>GCA	p.T1962A	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	retinitis pigmentosa RP1 protein	1962					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			skin(7)|ovary(4)|pancreas(1)	12		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			TTTACTTCAGACAGACAAAAA	0.318		NA											5	44					0	0	0	0
CSMD3	114788	broad.mit.edu	37	8	113662457	113662457	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr8:113662457C>G	uc003ynu.2	-	19	3285	c.3126G>C	c.(3124-3126)TTG>TTC	p.L1042F	CSMD3_uc003yns.2_Missense_Mutation_p.L314F|CSMD3_uc003ynt.2_Missense_Mutation_p.L1002F|CSMD3_uc011lhx.1_Missense_Mutation_p.L938F	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	1042	Extracellular (Potential).|Sushi 5.					integral to membrane|plasma membrane				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						CTTCATGACTCAACCTGTATC	0.438		NA								HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			3	108					0	0	0	0
ZNF251	90987	broad.mit.edu	37	8	145947129	145947129	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr8:145947129G>A	uc003zdv.3	-	5	2172	c.1916C>T	c.(1915-1917)CCA>CTA	p.P639L		NM_138367	NP_612376	Q9BRH9	ZN251_HUMAN	zinc finger protein 251	639	C2H2-type 14; degenerate.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	all_cancers(97;3.54e-11)|all_epithelial(106;2.65e-10)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.75e-39)|Epithelial(56;7.54e-38)|all cancers(56;6.19e-33)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.11)	GBM - Glioblastoma multiforme(99;0.198)		CTGCTGAGGTGGTGTGAGCTG	0.403		NA											8	51					0	0	0	0
CDKN2A	1029	broad.mit.edu	37	9	21971028	21971028	+	Nonsense_Mutation	SNP	C	C	T	rs121913389		TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr9:21971028C>T	uc003zpk.2	-	2	542	c.330G>A	c.(328-330)TGG>TGA	p.W110*	MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.2_3'UTR|CDKN2A_uc010miu.2_RNA|CDKN2A_uc003zpl.2_Missense_Mutation_p.G166R	NM_000077	NP_000068	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A isoform 1	110	ANK 4.				cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein binding|protein kinase binding	p.0?(1112)|p.W110*(38)|p.?(13)|p.H83fs*2(2)|p.W110fs*9(1)|p.D105fs*8(1)|p.A68fs*3(1)|p.R107fs*33(1)|p.W110fs*36(1)|p.W110C(1)		haematopoietic_and_lymphoid_tissue(647)|skin(419)|upper_aerodigestive_tract(414)|central_nervous_system(381)|lung(325)|pancreas(244)|oesophagus(230)|urinary_tract(225)|pleura(94)|liver(91)|soft_tissue(79)|bone(77)|ovary(76)|biliary_tract(71)|stomach(46)|breast(46)|kidney(39)|NS(28)|thyroid(24)|cervix(23)|meninges(18)|genital_tract(15)|endometrium(13)|prostate(11)|autonomic_ganglia(10)|salivary_gland(10)|large_intestine(9)|adrenal_gland(6)|eye(4)|vulva(2)|small_intestine(1)	3678		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		GCAGACGGCCCCAGGCATCGC	0.736		17							Uveal_Melanoma_Familial|Familial_Malignant_Melanoma_and_Tumors_of_the_Nervous_System|Hereditary_Melanoma	HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			4	33					0	0	0	0
GALT	2592	broad.mit.edu	37	9	34647693	34647693	+	Missense_Mutation	SNP	G	G	C	rs111033675		TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr9:34647693G>C	uc003zve.2	+	4	435	c.368G>C	c.(367-369)CGA>CCA	p.R123P	GALT_uc003zvf.2_Intron|GALT_uc003zvg.2_5'UTR|GALT_uc003zvh.2_Missense_Mutation_p.R75P|GALT_uc011lop.1_Missense_Mutation_p.R75P	NM_000155	NP_000146	P07902	GALT_HUMAN	galactose-1-phosphate uridylyltransferase	123			R -> G (in GALCT).|R -> Q (in GALCT).		galactose catabolic process	cytosol	UDP-glucose:hexose-1-phosphate uridylyltransferase activity|zinc ion binding				0	all_epithelial(49;0.102)		STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.173)		AAGTCTGCTCGAGGAGTCTGG	0.532		NA							Galactosemia				5	48					0	0	0	0
CEP78	84131	broad.mit.edu	37	9	80858414	80858414	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr9:80858414G>A	uc004akx.2	+	5	916	c.640G>A	c.(640-642)GAG>AAG	p.E214K	CEP78_uc004aky.3_Missense_Mutation_p.E214K|CEP78_uc010mpp.2_Missense_Mutation_p.E214K|CEP78_uc011lsp.1_Missense_Mutation_p.E127K	NM_032171	NP_115547	Q5JTW2	CEP78_HUMAN	centrosomal protein 78kDa isoform b	214					G2/M transition of mitotic cell cycle	centrosome|cytosol				ovary(1)	1						AACCTGGGCTGAGAGTCTTCG	0.403		NA											7	49					0	0	0	0
IARS	3376	broad.mit.edu	37	9	95013063	95013063	+	Silent	SNP	C	C	T			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr9:95013063C>T	uc004art.1	-	23	2618	c.2361G>A	c.(2359-2361)CTG>CTA	p.L787L	IARS_uc004ars.1_Silent_p.L632L|IARS_uc004aru.3_Silent_p.L787L|IARS_uc010mqr.2_Silent_p.L677L|IARS_uc010mqt.2_Intron	NM_013417	NP_038203	P41252	SYIC_HUMAN	isoleucine tRNA synthetase	787					isoleucyl-tRNA aminoacylation	cytosol|nucleus|soluble fraction	ATP binding|isoleucine-tRNA ligase activity|protein binding			ovary(1)|skin(1)	2					L-Isoleucine(DB00167)	CAGGGTCAATCAGCACCTTTA	0.453		NA											5	23					0	0	0	0
ASPN	54829	broad.mit.edu	37	9	95219641	95219641	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr9:95219641C>G	uc004ase.1	-	8	1316	c.1072G>C	c.(1072-1074)GAA>CAA	p.E358Q	CENPP_uc004arz.2_Intron|CENPP_uc010mqx.2_Intron|ASPN_uc010mqy.1_3'UTR	NM_017680	NP_060150	Q9BXN1	ASPN_HUMAN	asporin precursor	358	LRR 11.				bone mineralization|negative regulation of tooth mineralization|negative regulation of transforming growth factor beta receptor signaling pathway	proteinaceous extracellular matrix	calcium ion binding				0						GGTTGCATTTCCCAGTATTTC	0.373		NA											6	46					0	0	0	0
PTCH1	5727	broad.mit.edu	37	9	98268846	98268846	+	Silent	SNP	C	C	G			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr9:98268846C>G	uc004avk.3	-	2	425	c.237G>C	c.(235-237)CTG>CTC	p.L79L	PTCH1_uc010mro.2_5'UTR|PTCH1_uc010mrp.2_5'UTR|PTCH1_uc010mrq.2_5'UTR|PTCH1_uc004avl.3_5'UTR|PTCH1_uc010mrr.2_Silent_p.L13L|PTCH1_uc004avm.3_Silent_p.L78L|PTCH1_uc010mrt.1_RNA|PTCH1_uc010mru.1_RNA|PTCH1_uc004avo.2_Silent_p.L13L|PTCH1_uc010mrv.1_Intron|PTCH1_uc010mrw.1_Intron	NM_000264	NP_000255	Q13635	PTC1_HUMAN	patched isoform L	79	Cytoplasmic (Potential).				embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway	integral to plasma membrane	hedgehog receptor activity			skin(242)|central_nervous_system(72)|bone(33)|upper_aerodigestive_tract(11)|lung(6)|large_intestine(4)|breast(4)|oesophagus(3)|ovary(3)|vulva(1)	379		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				ACTTCGCTCTCAGCCACAGCG	0.592		NA							Basal_Cell_Nevus_syndrome				4	40					0	0	0	0
OR1J2	26740	broad.mit.edu	37	9	125273592	125273592	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr9:125273592C>T	uc004bmj.1	+	4	1367	c.512C>T	c.(511-513)GCG>GTG	p.A171V	OR1J2_uc011lyv.1_Missense_Mutation_p.A171V	NM_054107	NP_473448	Q8NGS2	OR1J2_HUMAN	olfactory receptor, family 1, subfamily J,	171	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(3)|pancreas(1)|breast(1)	5						TTCTGTGCTGCGAACACCATC	0.532		NA											18	136					0	0	0	0
RXRA	6256	broad.mit.edu	37	9	137328333	137328333	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr9:137328333G>A	uc004cfb.2	+	10	1424	c.1262G>A	c.(1261-1263)CGC>CAC	p.R421H	RXRA_uc004cfc.1_Missense_Mutation_p.R324H	NM_002957	NP_002948	P19793	RXRA_HUMAN	retinoid X receptor, alpha	421	Ligand-binding.				cellular lipid metabolic process|cholesterol metabolic process|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid|vitamin metabolic process	nuclear chromatin|nucleoplasm	enzyme binding|ligand-regulated transcription factor activity|protein heterodimerization activity|retinoic acid-responsive element binding|retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|transcription coactivator activity|vitamin D receptor binding|zinc ion binding			upper_aerodigestive_tract(1)|ovary(1)	2				OV - Ovarian serous cystadenocarcinoma(145;4.66e-08)|Epithelial(140;6.72e-08)|all cancers(34;2.22e-07)	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)	CTCTTGCTCCGCCTGCCGGCT	0.607		NA											9	110					0	0	0	0
NOTCH1	4851	broad.mit.edu	37	9	139395018	139395018	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr9:139395018G>A	uc004chz.2	-	31	5920	c.5920C>T	c.(5920-5922)CAA>TAA	p.Q1974*		NM_017617	NP_060087	P46531	NOTC1_HUMAN	notch1 preproprotein	1974	ANK 2.|Cytoplasmic (Potential).				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			haematopoietic_and_lymphoid_tissue(791)|upper_aerodigestive_tract(29)|lung(13)|central_nervous_system(10)|breast(9)|large_intestine(1)|skin(1)|oesophagus(1)|pancreas(1)	856	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		AAGACACCTTGTGCGTCGGCA	0.677		NA	T|Mis|O	TRB@	T-ALL					HNSCC(8;0.001)			21	105					0	0	0	0
CACNA1B	774	broad.mit.edu	37	9	140946543	140946543	+	Splice_Site	SNP	G	G	A			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr9:140946543G>A	uc004cog.2	+	25	3856	c.3711_splice	c.e25-1	p.S1237_splice	CACNA1B_uc011mfd.1_Splice_Site_p.S767_splice|CACNA1B_uc004coi.2_Splice_Site_p.G451_splice	NM_000718	NP_000709	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type,						membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			breast(3)|large_intestine(2)|ovary(1)	6	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	CTCCCTTCTAGAGGATCCAAA	0.572		NA											7	11					0	0	0	0
FAM9A	171482	broad.mit.edu	37	X	8759387	8759387	+	Missense_Mutation	SNP	T	T	G			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chrX:8759387T>G	uc004csg.2	-	9	1075	c.964A>C	c.(964-966)ATT>CTT	p.I322L		NM_174951	NP_777611	Q8IZU1	FAM9A_HUMAN	family with sequence similarity 9, member A	322						nucleolus					0		Hepatocellular(5;0.219)				CTGGAAGAAATGATGCAATAA	0.348		NA											10	22					0	0	0	0
MAP7D2	256714	broad.mit.edu	37	X	20033405	20033405	+	Missense_Mutation	SNP	T	T	G			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chrX:20033405T>G	uc004czr.1	-	11	1581	c.1562A>C	c.(1561-1563)CAG>CCG	p.Q521P	MAP7D2_uc004czq.1_Missense_Mutation_p.Q406P|MAP7D2_uc011mji.1_Missense_Mutation_p.Q469P|MAP7D2_uc010nfo.1_Missense_Mutation_p.Q562P|MAP7D2_uc011mjj.1_Missense_Mutation_p.Q476P	NM_152780	NP_689993	Q96T17	MA7D2_HUMAN	MAP7 domain containing 2	521										ovary(2)|breast(1)	3						GAGACGCATCTGTTCAGCTAC	0.458		NA											14	62					0	0	0	0
PHF16	9767	broad.mit.edu	37	X	46915504	46915504	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chrX:46915504G>C	uc004dgx.2	+	10	1515	c.1464G>C	c.(1462-1464)ATG>ATC	p.M488I	PHF16_uc004dgy.2_Missense_Mutation_p.M488I	NM_001077445	NP_001070913	Q92613	JADE3_HUMAN	PHD finger protein 16	488					histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation	histone acetyltransferase complex	zinc ion binding				0						TGTGCTATATGATAAGCAGAC	0.398		NA											3	24					0	0	0	0
ZMYM3	9203	broad.mit.edu	37	X	70470529	70470529	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chrX:70470529C>T	uc004dzh.1	-	5	913	c.826G>A	c.(826-828)GAT>AAT	p.D276N	BCYRN1_uc011mpt.1_Intron|ZMYM3_uc004dzi.1_Missense_Mutation_p.D276N|ZMYM3_uc004dzj.1_Missense_Mutation_p.D276N|ZMYM3_uc011mpu.1_Missense_Mutation_p.D7N|ZMYM3_uc004dzk.3_Missense_Mutation_p.D276N|ZMYM3_uc004dzl.3_Missense_Mutation_p.D276N|ZMYM3_uc004dzm.3_Missense_Mutation_p.D276N	NM_201599	NP_963893	Q14202	ZMYM3_HUMAN	zinc finger protein 261	276					multicellular organismal development	nucleus	DNA binding|zinc ion binding			ovary(1)	1	Renal(35;0.156)					AAGTCCTCATCATTGGGGTCA	0.567		NA											4	14					0	0	0	0
ACSL4	2182	broad.mit.edu	37	X	108926545	108926545	+	Silent	SNP	A	A	G			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chrX:108926545A>G	uc004eoi.2	-	4	676	c.171T>C	c.(169-171)AGT>AGC	p.S57S	ACSL4_uc004eoj.2_Silent_p.S16S|ACSL4_uc004eok.2_Silent_p.S16S|ACSL4_uc010npp.1_Silent_p.S57S	NM_022977	NP_075266	O60488	ACSL4_HUMAN	acyl-CoA synthetase long-chain family member 4	57	Cytoplasmic (Potential).				fatty acid metabolic process|learning or memory|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity			large_intestine(1)|lung(1)|ovary(1)	3					Icosapent(DB00159)|Troglitazone(DB00197)	AGCGATATGGACTTCCAGGTT	0.403		NA											5	190					0	0	0	0
AMOT	154796	broad.mit.edu	37	X	112048305	112048305	+	Missense_Mutation	SNP	C	C	T	rs147627113	byFrequency	TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chrX:112048305C>T	uc004epr.2	-	5	1646	c.1646G>A	c.(1645-1647)CGT>CAT	p.R549H	AMOT_uc004eps.2_Missense_Mutation_p.R140H	NM_001113490	NP_001106962	Q4VCS5	AMOT_HUMAN	angiomotin isoform 1	549	Potential.				actin cytoskeleton organization|cell-cell junction assembly|negative regulation of angiogenesis|negative regulation of vascular permeability|positive regulation of blood vessel endothelial cell migration|positive regulation of cell size|positive regulation of stress fiber assembly|regulation of cell migration	actin filament|cell surface|cytoplasm|endocytic vesicle|external side of plasma membrane|integral to membrane|lamellipodium|ruffle|stress fiber|tight junction|tight junction	angiostatin binding|protein binding|receptor activity			ovary(1)	1						CTCCTTCTCACGCTGGCTTTC	0.498		NA											6	158					0	0	0	0
LRCH2	57631	broad.mit.edu	37	X	114357438	114357438	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chrX:114357438A>G	uc010nqe.2	-	19	2016	c.1985T>C	c.(1984-1986)GTA>GCA	p.V662A	LRCH2_uc004epz.2_Missense_Mutation_p.V645A	NM_020871	NP_065922	Q5VUJ6	LRCH2_HUMAN	leucine-rich repeats and calponin homology (CH)	662	CH.									ovary(1)	1						AGGCAAAATTACTTTTAACCT	0.328		NA											3	17					0	0	0	0
KIAA1210	57481	broad.mit.edu	37	X	118220735	118220735	+	Silent	SNP	C	C	T			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chrX:118220735C>T	uc004era.3	-	11	4458	c.4458G>A	c.(4456-4458)TCG>TCA	p.S1486S		NM_020721	NP_065772	Q9ULL0	K1210_HUMAN	hypothetical protein LOC57481	1486										ovary(4)|skin(1)	5						TATACTTCTGCGAGGGAGGGG	0.448		NA											3	32					0	0	0	0
PASD1	139135	broad.mit.edu	37	X	150828296	150828296	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chrX:150828296C>T	uc004fev.3	+	10	1161	c.829C>T	c.(829-831)CCT>TCT	p.P277S		NM_173493	NP_775764	Q8IV76	PASD1_HUMAN	PAS domain containing 1	277						nucleus	signal transducer activity			ovary(3)	3	Acute lymphoblastic leukemia(192;6.56e-05)					GGATACTATGCCTGAATCTCC	0.383		NA											4	45					0	0	0	0
GABRQ	55879	broad.mit.edu	37	X	151821396	151821396	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chrX:151821396G>T	uc004ffp.1	+	9	1571	c.1551G>T	c.(1549-1551)AAG>AAT	p.K517N		NM_018558	NP_061028	Q9UN88	GBRT_HUMAN	gamma-aminobutyric acid (GABA) receptor, theta	517						cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|neurotransmitter transporter activity			ovary(2)|pancreas(1)	3	Acute lymphoblastic leukemia(192;6.56e-05)					CCAGTGGGAAGCCCATGCTTC	0.547		NA											4	60					0.00909568	0.00947732	1	0
SLC6A8	6535	broad.mit.edu	37	X	152960239	152960239	+	Silent	SNP	G	G	A	rs149677083	byFrequency	TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chrX:152960239G>A	uc004fib.3	+	12	1940	c.1662G>A	c.(1660-1662)CCG>CCA	p.P554P	SLC6A8_uc004fic.3_Silent_p.P544P|SLC6A8_uc011myx.1_Silent_p.P439P|SLC6A8_uc010nuj.2_RNA	NM_005629	NP_005620	P48029	SC6A8_HUMAN	solute carrier family 6 member 8 isoform 1	554	Extracellular (Potential).		P -> L (in XL-CDS).		creatine metabolic process|muscle contraction	integral to plasma membrane	creatine:sodium symporter activity|neurotransmitter:sodium symporter activity			pancreas(1)	1	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)				Creatine(DB00148)	ACGTGTACCCGTGGTGGGGTG	0.607		NA											8	32					0	0	0	0
PCDH11Y	83259	broad.mit.edu	37	Y	4968225	4968225	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chrY:4968225G>A	uc004fqo.2	+	2	3340	c.2606G>A	c.(2605-2607)CGC>CAC	p.R869H	PCDH11Y_uc010nwg.1_Missense_Mutation_p.R858H|PCDH11Y_uc004fql.1_Missense_Mutation_p.R858H|PCDH11Y_uc004fqm.1_Missense_Mutation_p.R858H|PCDH11Y_uc004fqn.1_Missense_Mutation_p.R869H|PCDH11Y_uc004fqp.1_Missense_Mutation_p.R640H	NM_032973	NP_116755	Q9BZA8	PC11Y_HUMAN	protocadherin 11 Y-linked isoform c	869	Cytoplasmic (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0						GTAAGATGTCGCCAGGCACCA	0.433		NA											22	44					0	0	0	0
CHD2	1106	broad.mit.edu	37	15	93545433	93545434	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr15:93545433_93545434insA	uc002bsp.2	+	33	4739_4740	c.4164_4165insA	c.(4162-4167)ATGAAAfs	p.M1388fs	CHD2_uc002bso.1_Frame_Shift_Ins_p.M1388fs	NM_001271	NP_001262	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	1388_1389					regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			ovary(1)|skin(1)	2	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			AAAGTCCAATgaaaaaaaaaca	0.158		NA											7	129	---	---	---	---	NA	NA	NA	NA