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	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_tumor_sample							
SCNN1D	6339	broad.mit.edu	37	1	1221398	1221398	+	Silent	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr1:1221398C>T	uc001adu.1	+	6	783	c.159C>T	c.(157-159)CCC>CCT	p.P53P	SCNN1D_uc001adt.1_Silent_p.P217P|SCNN1D_uc001adw.2_Silent_p.P119P|SCNN1D_uc001adx.2_5'UTR|SCNN1D_uc001adv.2_Silent_p.P53P	NM_002978	NP_002969			sodium channel, nonvoltage-gated 1, delta												0	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;2.46e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199)		TGGAGCTGCCCGCCTCGTTCC	0.612		NaN											0	0	0	0.009096	0	3	6									
CASZ1	54897	broad.mit.edu	37	1	10715772	10715772	+	Silent	SNP	G	G	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr1:10715772G>A	uc001aro.2	-	9	1919	c.1599C>T	c.(1597-1599)GAC>GAT	p.D533D	CASZ1_uc001arp.1_Silent_p.D533D|CASZ1_uc009vmx.2_Silent_p.D557D	NM_001079843	NP_001073312	Q86V15	CASZ1_HUMAN	castor homolog 1, zinc finger isoform a	533					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			skin(1)	1	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		CGCTGCAGTCGTCCAGCGGGC	0.612		NaN											0	0	0	0.058154	0	10	47									
MAD2L2	10459	broad.mit.edu	37	1	11740482	11740482	+	Silent	SNP	G	G	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr1:11740482G>A	uc001asp.2	-	3	275	c.87C>T	c.(85-87)CTC>CTT	p.L29L	MAD2L2_uc009vnc.2_Silent_p.L29L|MAD2L2_uc001asq.3_Silent_p.L29L	NM_006341	NP_006332	Q9UI95	MD2L2_HUMAN	MAD2 homolog	29	Mediates interaction with REV1 and REV3L and homodimerization.|HORMA.				cell division|DNA damage response, signal transduction resulting in transcription|double-strand break repair|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of mitotic anaphase-promoting complex activity|positive regulation of peptidyl-serine phosphorylation|positive regulation of transcription, DNA-dependent|regulation of cell growth|transcription, DNA-dependent	cytoplasm|nucleoplasm|spindle|zeta DNA polymerase complex	JUN kinase binding				0	Ovarian(185;0.249)	Lung NSC(185;4.15e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.04e-06)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|Kidney(185;0.000733)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CGTAGAGGATGAGATGCACAG	0.572		NaN						DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage					0	0	0	0.139131	0	50	144									
KDM1A	23028	broad.mit.edu	37	1	23408824	23408824	+	Missense_Mutation	SNP	A	A	G			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr1:23408824A>G	uc001bgi.2	+	18	2487	c.2338A>G	c.(2338-2340)ATC>GTC	p.I780V	KDM1A_uc001bgj.2_Missense_Mutation_p.I804V	NM_015013	NP_055828	O60341	KDM1A_HUMAN	lysine-specific histone demethylase 1 isoform b	780	Demethylase activity.				blood coagulation|muscle cell development|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of protein binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nuclear chromatin	androgen receptor binding|chromatin binding|enzyme binding|flavin adenine dinucleotide binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-K9 specific)|ligand-dependent nuclear receptor transcription coactivator activity|MyoD binding|oxidoreductase activity|p53 binding|transcription regulatory region DNA binding			ovary(1)|lung(1)	2						GGCTCAGCCAATCACTCCTGG	0.527		NaN											0	0	0	0.049695	0	19	51									
MYOM3	127294	broad.mit.edu	37	1	24419481	24419481	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr1:24419481G>A	uc001bin.3	-	10	1209	c.1046C>T	c.(1045-1047)TCG>TTG	p.S349L	MYOM3_uc001bim.3_Missense_Mutation_p.S6L|MYOM3_uc001bio.2_Missense_Mutation_p.S349L|MYOM3_uc001bip.1_Missense_Mutation_p.S6L	NM_152372	NP_689585	Q5VTT5	MYOM3_HUMAN	myomesin family, member 3	349	Ig-like C2-type 2.									skin(2)|ovary(1)	3		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		TCCGAAGGGCGAGGGCACCCG	0.458		NaN											0	0	0	0.047766	0	9	28									
ARID1A	8289	broad.mit.edu	37	1	27097694	27097694	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq;WGS			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr1:27097694C>T	uc001bmv.1	+	12	3656	c.3283C>T	c.(3283-3285)CAG>TAG	p.Q1095*	ARID1A_uc001bmt.1_Nonsense_Mutation_p.Q1095*|ARID1A_uc001bmu.1_Nonsense_Mutation_p.Q1095*|ARID1A_uc001bmw.1_Nonsense_Mutation_p.Q712*|ARID1A_uc001bmx.1_5'UTR|ARID1A_uc009vsm.1_5'Flank	NM_006015	NP_006006	O14497	ARI1A_HUMAN	AT rich interactive domain 1A isoform a	1095	ARID.				androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding			ovary(124)|pancreas(5)|central_nervous_system(3)|endometrium(3)|kidney(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	142		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		CTTGAAAAAGCAGTATATCCA	0.483		NaN	Mis|N|F|S|D		clear cell ovarian carcinoma|RCC								0	0	0	0.105934	0	13	74									
KIAA0319L	79932	broad.mit.edu	37	1	35917362	35917362	+	Silent	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr1:35917362C>T	uc001byx.2	-	13	2187	c.1929G>A	c.(1927-1929)GTG>GTA	p.V643V	KIAA0319L_uc001byw.2_Silent_p.V85V|KIAA0319L_uc010ohv.1_Silent_p.V285V	NM_024874	NP_079150	Q8IZA0	K319L_HUMAN	dyslexia susceptibility 2-like	643	PKD 4.|Extracellular (Potential).					cytoplasmic vesicle part|integral to membrane	protein binding			skin(2)	2		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				TCTCGAGCTGCACCCCATCAG	0.507		NaN									OREG0013354	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.139131	0	71	111									
KIAA0754	643314	broad.mit.edu	37	1	39879235	39879235	+	Missense_Mutation	SNP	A	A	C			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr1:39879235A>C	uc009vvt.1	+	1	4060	c.3298A>C	c.(3298-3300)ACC>CCC	p.T1100P	MACF1_uc010ois.1_Intron|MACF1_uc001cda.1_Intron|MACF1_uc001cdc.1_Intron|MACF1_uc010oiu.1_Intron	NM_015038	NP_055853	O94854	K0754_HUMAN	hypothetical protein LOC643314	964	7.|Ala-rich.										0	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TGCAGTGCCCACCCCAGAGGA	0.731		NaN											0	0	0	0.02938	0	4	80									
ACOT11	26027	broad.mit.edu	37	1	55072835	55072835	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr1:55072835G>A	uc001cxm.1	+	14	1481	c.1399G>A	c.(1399-1401)GAG>AAG	p.E467K	ACOT11_uc001cxj.1_Missense_Mutation_p.E345K|ACOT11_uc001cxl.1_Missense_Mutation_p.E467K	NM_015547	NP_056362	Q8WXI4	ACO11_HUMAN	thioesterase, adipose associated isoform BFIT1	467	START.				fatty acid metabolic process|intracellular signal transduction|response to cold		acyl-CoA thioesterase activity|carboxylesterase activity			central_nervous_system(1)	1						GCAGGTAGACGAGGACGACGC	0.647		NaN											0	0	0	0.047766	0	9	28									
WLS	79971	broad.mit.edu	37	1	68697918	68697918	+	Missense_Mutation	SNP	A	A	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr1:68697918A>T	uc001def.1	-	1	336	c.65T>A	c.(64-66)CTC>CAC	p.L22H	WLS_uc001dee.2_Missense_Mutation_p.L22H|WLS_uc001deg.1_Missense_Mutation_p.L22H|WLS_uc001deh.1_Missense_Mutation_p.L22H	NM_024911	NP_079187	Q5T9L3	WLS_HUMAN	G protein-coupled receptor 177 isoform 1	22					multicellular organismal development|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|Wnt receptor signaling pathway	cytoplasmic vesicle membrane|Golgi membrane|integral to membrane	signal transducer activity				0						TTGGAACACGAGCAGAATCCC	0.488		NaN											0	0	0	0.049695	0	15	72									
TMEM167B	56900	broad.mit.edu	37	1	109635586	109635586	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr1:109635586C>T	uc001dwn.2	+	2	177	c.85C>T	c.(85-87)CGT>TGT	p.R29C	TMEM167B_uc009weu.2_Intron	NM_020141	NP_064526	Q9NRX6	KISHB_HUMAN	transmembrane protein 167B precursor	29	Extracellular (Potential).					Golgi membrane|integral to membrane					0						GAAAGTACCTCGTCTCAAAAC	0.453		NaN											0	0	0	0.139131	0	90	297									
GPR61	83873	broad.mit.edu	37	1	110086286	110086287	+	Missense_Mutation	DNP	CC	CC	TA			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr1:110086286_110086287CC>TA	uc001dxy.2	+	2	1325_1326	c.642_643CC>TA	c.(640-645)GTCCTT>GTTATT	p.L215I		NM_031936	NP_114142	Q9BZJ8	GPR61_HUMAN	G protein-coupled receptor 61	215	Helical; Name=5; (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(2)	2		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Lung(183;0.0426)|Colorectal(144;0.11)|Epithelial(280;0.128)|all cancers(265;0.132)|LUSC - Lung squamous cell carcinoma(189;0.228)		TCTTTGCTGTCCTTTACTTTCT	0.609		NaN											0	0	0	0.115264	0	25	902									
GPR61	83873	broad.mit.edu	37	1	110086421	110086421	+	Silent	SNP	C	C	G			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr1:110086421C>G	uc001dxy.2	+	2	1460	c.777C>G	c.(775-777)CTC>CTG	p.L259L		NM_031936	NP_114142	Q9BZJ8	GPR61_HUMAN	G protein-coupled receptor 61	259	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(2)	2		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Lung(183;0.0426)|Colorectal(144;0.11)|Epithelial(280;0.128)|all cancers(265;0.132)|LUSC - Lung squamous cell carcinoma(189;0.228)		CCGAATCTCTCAGCAGCCGCT	0.672		NaN											0	0	0	0.083992	0	24	673									
GPR61	83873	broad.mit.edu	37	1	110086532	110086532	+	Silent	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr1:110086532C>T	uc001dxy.2	+	2	1571	c.888C>T	c.(886-888)TTC>TTT	p.F296F		NM_031936	NP_114142	Q9BZJ8	GPR61_HUMAN	G protein-coupled receptor 61	296	Helical; Name=6; (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(2)	2		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Lung(183;0.0426)|Colorectal(144;0.11)|Epithelial(280;0.128)|all cancers(265;0.132)|LUSC - Lung squamous cell carcinoma(189;0.228)		GGGGACAGTTCCTGCTCTGTT	0.607		NaN											0	0	0	0.076483	0	24	536									
GPR61	83873	broad.mit.edu	37	1	110086556	110086556	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr1:110086556C>G	uc001dxy.2	+	2	1595	c.912C>G	c.(910-912)TTC>TTG	p.F304L		NM_031936	NP_114142	Q9BZJ8	GPR61_HUMAN	G protein-coupled receptor 61	304	Helical; Name=6; (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(2)	2		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Lung(183;0.0426)|Colorectal(144;0.11)|Epithelial(280;0.128)|all cancers(265;0.132)|LUSC - Lung squamous cell carcinoma(189;0.228)		TGCCCTACTTCTCTTTCCACC	0.577		NaN											0	0	0	0.069288	0	22	705									
GPR61	83873	broad.mit.edu	37	1	110086651	110086651	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr1:110086651C>G	uc001dxy.2	+	2	1690	c.1007C>G	c.(1006-1008)TCC>TGC	p.S336C		NM_031936	NP_114142	Q9BZJ8	GPR61_HUMAN	G protein-coupled receptor 61	336	Helical; Name=7; (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(2)	2		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Lung(183;0.0426)|Colorectal(144;0.11)|Epithelial(280;0.128)|all cancers(265;0.132)|LUSC - Lung squamous cell carcinoma(189;0.228)		TGCTTCACTTCCAACCCTTTC	0.532		NaN											0	0	0	0.125774	0	25	742									
GPR61	83873	broad.mit.edu	37	1	110086715	110086715	+	Silent	SNP	C	C	G			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr1:110086715C>G	uc001dxy.2	+	2	1754	c.1071C>G	c.(1069-1071)GTC>GTG	p.V357V		NM_031936	NP_114142	Q9BZJ8	GPR61_HUMAN	G protein-coupled receptor 61	357	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(2)	2		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Lung(183;0.0426)|Colorectal(144;0.11)|Epithelial(280;0.128)|all cancers(265;0.132)|LUSC - Lung squamous cell carcinoma(189;0.228)		AGCAGTTTGTCTGCTTCTTCA	0.562		NaN											0	0	0	0.0333	0	16	498									
GPR61	83873	broad.mit.edu	37	1	110086724	110086724	+	Silent	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr1:110086724C>T	uc001dxy.2	+	2	1763	c.1080C>T	c.(1078-1080)TTC>TTT	p.F360F		NM_031936	NP_114142	Q9BZJ8	GPR61_HUMAN	G protein-coupled receptor 61	360	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(2)	2		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Lung(183;0.0426)|Colorectal(144;0.11)|Epithelial(280;0.128)|all cancers(265;0.132)|LUSC - Lung squamous cell carcinoma(189;0.228)		TCTGCTTCTTCAAGCCAGCTC	0.557		NaN											0	0	0	0.146539	0	14	466									
GSTM5	2949	broad.mit.edu	37	1	110255280	110255280	+	Nonsense_Mutation	SNP	C	C	G			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr1:110255280C>G	uc001dyn.2	+	2	148	c.77C>G	c.(76-78)TCA>TGA	p.S26*	GSTM5_uc010ovu.1_5'UTR	NM_000851	NP_000842	P46439	GSTM5_HUMAN	glutathione S-transferase mu 5	26	GST N-terminal.				xenobiotic metabolic process	endoplasmic reticulum membrane	glutathione transferase activity			central_nervous_system(6)	6		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Colorectal(144;0.0131)|all cancers(265;0.0252)|Epithelial(280;0.0265)|Lung(183;0.0425)|COAD - Colon adenocarcinoma(174;0.0474)|LUSC - Lung squamous cell carcinoma(189;0.228)	Glutathione(DB00143)	TACACAGACTCAAGCTATGTG	0.607		NaN											0	0	0	0.049695	0	20	690									
KCNA10	3744	broad.mit.edu	37	1	111061247	111061247	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr1:111061247C>T	uc001dzt.1	-	1	551	c.163G>A	c.(163-165)GAA>AAA	p.E55K		NM_005549	NP_005540	Q16322	KCA10_HUMAN	potassium voltage-gated channel, shaker-related	55						voltage-gated potassium channel complex	intracellular cyclic nucleotide activated cation channel activity|voltage-gated potassium channel activity			ovary(3)|large_intestine(1)	4		all_cancers(81;4.57e-06)|all_epithelial(167;1.52e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301)		Lung(183;0.0238)|all cancers(265;0.0874)|Colorectal(144;0.103)|Epithelial(280;0.116)|LUSC - Lung squamous cell carcinoma(189;0.134)		TTGGTGCTTTCGCTGATGAGG	0.582		NaN											0	0	0	0.11911	0	14	79									
ANKRD35	148741	broad.mit.edu	37	1	145561860	145561860	+	Silent	SNP	G	G	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr1:145561860G>A	uc001eob.1	+	10	1656	c.1548G>A	c.(1546-1548)CCG>CCA	p.P516P	NBPF10_uc001emp.3_Intron|ANKRD35_uc010oyx.1_Silent_p.P359P	NM_144698	NP_653299	Q8N283	ANR35_HUMAN	ankyrin repeat domain 35	516										ovary(4)|skin(1)	5	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TGTCAAGACCGGTCATGGAGG	0.627		NaN											0	0	0	0.139131	0	57	201									
ECM1	1893	broad.mit.edu	37	1	150482400	150482400	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr1:150482400C>T	uc001eus.2	+	4	425	c.226C>T	c.(226-228)CAG>TAG	p.Q76*	ECM1_uc010pce.1_Intron|ECM1_uc010pcf.1_Intron|ECM1_uc001eut.2_Nonsense_Mutation_p.Q76*|ECM1_uc001euu.2_Nonsense_Mutation_p.Q105*|ECM1_uc001euv.2_Nonsense_Mutation_p.Q103*|ECM1_uc009wlu.2_5'UTR	NM_004425	NP_004416	Q16610	ECM1_HUMAN	extracellular matrix protein 1 isoform 1	76					angiogenesis|biomineral tissue development|negative regulation of bone mineralization|negative regulation of peptidase activity|ossification|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of I-kappaB kinase/NF-kappaB cascade	proteinaceous extracellular matrix	laminin binding|protease binding|protein C-terminus binding|signal transducer activity			ovary(2)|central_nervous_system(1)	3	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.29e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			TTCTATAGTGCAGCCCCCTCC	0.617		NaN											0	0	0	0.080935	0	12	75									
CHRNB2	1141	broad.mit.edu	37	1	154544295	154544295	+	Silent	SNP	G	G	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr1:154544295G>A	uc001ffg.2	+	5	1260	c.996G>A	c.(994-996)GCG>GCA	p.A332A		NM_000748	NP_000739	P17787	ACHB2_HUMAN	neuronal nicotinic acetylcholine receptor beta 2	332	Cytoplasmic (Potential).				B cell activation|behavioral response to nicotine|calcium ion transport|central nervous system projection neuron axonogenesis|lateral geniculate nucleus development|locomotory behavior|membrane depolarization|memory|negative regulation of action potential|optic nerve morphogenesis|positive regulation of B cell proliferation|positive regulation of dopamine secretion|regulation of circadian sleep/wake cycle, REM sleep|regulation of dendrite morphogenesis|regulation of dopamine metabolic process|regulation of synaptogenesis|response to cocaine|response to ethanol|response to hypoxia|sensory perception of pain|sensory perception of sound|smooth muscle contraction|social behavior|synaptic transmission involved in micturition|synaptic transmission, cholinergic|vestibulocochlear nerve development|visual learning|visual perception	cell junction|external side of plasma membrane|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity				0	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)		Nicotine(DB00184)	ACACCATGGCGCCCTGGGTGA	0.642		NaN											0	0	0	0.014758	0	5	34									
SH2D2A	9047	broad.mit.edu	37	1	156784028	156784028	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr1:156784028C>T	uc001fqd.2	-	4	507	c.367G>A	c.(367-369)GAG>AAG	p.E123K	SH2D2A_uc001fqc.1_Missense_Mutation_p.E95K|SH2D2A_uc009wsh.2_Missense_Mutation_p.E133K|SH2D2A_uc001fqe.2_Missense_Mutation_p.E105K|SH2D2A_uc010phs.1_Missense_Mutation_p.E123K|NTRK1_uc001fqf.1_5'Flank|NTRK1_uc009wsi.1_5'Flank	NM_003975	NP_003966	Q9NP31	SH22A_HUMAN	SH2 domain protein 2A isoform 2	123	SH2.				angiogenesis|cell differentiation|signal transduction	cytoplasm|soluble fraction	SH3 domain binding|SH3/SH2 adaptor activity				0	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					ACCGCGCTCTCGCTGAACCGC	0.692		NaN											0	0	0	0.047766	0	7	40									
CD1C	911	broad.mit.edu	37	1	158261130	158261130	+	Missense_Mutation	SNP	T	T	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr1:158261130T>A	uc001fru.2	+	2	560	c.268T>A	c.(268-270)TTC>ATC	p.F90I	CD1C_uc001frv.2_5'Flank	NM_001765	NP_001756	P29017	CD1C_HUMAN	CD1C antigen precursor	90	Extracellular (Potential).				antigen processing and presentation|T cell activation involved in immune response	endosome membrane|integral to plasma membrane	endogenous lipid antigen binding|exogenous lipid antigen binding|glycolipid binding|lipopeptide binding			ovary(2)|skin(1)|pancreas(1)	4	all_hematologic(112;0.0378)					GTTATTTCGTTTCTACCTCTT	0.398		NaN											0	0	0	0.055883	0	21	110									
SPTA1	6708	broad.mit.edu	37	1	158589083	158589083	+	Silent	SNP	G	G	C			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr1:158589083G>C	uc001fst.1	-	45	6658	c.6459C>G	c.(6457-6459)GTC>GTG	p.V2153V		NM_003126	NP_003117	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	2153					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8	all_hematologic(112;0.0378)					CAAAGTTCTTGACCTGTCTTG	0.473		NaN											0	0	0	0.02938	0	7	239									
OR6K6	128371	broad.mit.edu	37	1	158725151	158725151	+	Silent	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr1:158725151C>T	uc001fsw.1	+	1	546	c.546C>T	c.(544-546)CTC>CTT	p.L182L		NM_001005184	NP_001005184	Q8NGW6	OR6K6_HUMAN	olfactory receptor, family 6, subfamily K,	182	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1	all_hematologic(112;0.0378)					GTGGCTTCCTCCTTGTGCTTC	0.478		NaN											0	0	0	0.0918	0	26	144									
FASLG	356	broad.mit.edu	37	1	172628518	172628518	+	Silent	SNP	G	G	A	rs143516344	byFrequency	TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr1:172628518G>A	uc001gis.2	+	1	334	c.177G>A	c.(175-177)CCG>CCA	p.P59P	FASLG_uc001git.2_Silent_p.P59P	NM_000639	NP_000630	P48023	TNFL6_HUMAN	fas ligand	59	Pro-rich.|Poly-Pro.|Cytoplasmic (Potential).				activation of caspase activity|activation of pro-apoptotic gene products|cell-cell signaling|immune response|induction of necroptosis by extracellular signals|induction of necroptosis of activated-T cells|necrotic cell death|negative regulation of angiogenesis|positive regulation of I-kappaB kinase/NF-kappaB cascade|signal transduction	extracellular space|integral to plasma membrane	cytokine activity			lung(2)|breast(1)	3						ctccgccgccgccgccaccac	0.333		NaN											0	0	0	0.099896	0	25	13									
ELF3	1999	broad.mit.edu	37	1	201982087	201982087	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq;WGS			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr1:201982087C>G	uc001gxg.3	+	5	3803	c.611C>G	c.(610-612)TCT>TGT	p.S204C	ELF3_uc001gxi.3_Missense_Mutation_p.S204C|ELF3_uc001gxh.3_Missense_Mutation_p.S204C	NM_004433	NP_004424	P78545	ELF3_HUMAN	E74-like factor 3 (ets domain transcription	204					epidermis development|epithelial cell differentiation|inflammatory response|mammary gland involution|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi apparatus|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity				0						ACTGGTGCTTCTCGGAGCTCC	0.647		NaN											0	0	0	0.069234	0	11	40									
ELF3	1999	broad.mit.edu	37	1	201982405	201982405	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08			G	C	G	G		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq;WGS			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr1:201982405G>C	uc001gxg.3	+	6	3976	c.784G>C	c.(784-786)GAG>CAG	p.E262Q	ELF3_uc001gxi.3_Missense_Mutation_p.E262Q|ELF3_uc001gxh.3_Missense_Mutation_p.E262Q	NM_004433	NP_004424	P78545	ELF3_HUMAN	E74-like factor 3 (ets domain transcription	262					epidermis development|epithelial cell differentiation|inflammatory response|mammary gland involution|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi apparatus|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity				0						GGACTGTCTCGAGGGCAAGAA	0.632		NaN											0	0	0	0.083992	0	25	85									
KLHL12	59349	broad.mit.edu	37	1	202880190	202880190	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr1:202880190C>G	uc001gyo.1	-	5	909	c.709G>C	c.(709-711)GAT>CAT	p.D237H	KLHL12_uc001gym.1_5'Flank|KLHL12_uc001gyn.1_Missense_Mutation_p.D87H|KLHL12_uc010pqc.1_Missense_Mutation_p.D275H|KLHL12_uc009xah.1_Missense_Mutation_p.D237H	NM_021633	NP_067646	Q53G59	KLH12_HUMAN	kelch-like 12	237					Wnt receptor signaling pathway		protein binding				0			BRCA - Breast invasive adenocarcinoma(75;0.166)			ACCTCAGCATCTATTACATCT	0.438		NaN											0	0	0	0.139131	0	86	122									
KLHL12	59349	broad.mit.edu	37	1	202880307	202880307	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr1:202880307C>G	uc001gyo.1	-	5	792	c.592G>C	c.(592-594)GAG>CAG	p.E198Q	KLHL12_uc001gym.1_5'Flank|KLHL12_uc001gyn.1_Missense_Mutation_p.E48Q|KLHL12_uc010pqc.1_Missense_Mutation_p.E236Q|KLHL12_uc009xah.1_Missense_Mutation_p.E198Q	NM_021633	NP_067646	Q53G59	KLH12_HUMAN	kelch-like 12	198				FE -> LG (in Ref. 3; BAD96792).	Wnt receptor signaling pathway		protein binding				0			BRCA - Breast invasive adenocarcinoma(75;0.166)			ATGACAGCCTCAAAGACTGGC	0.473		NaN											0	0	0	0.139131	0	87	132									
PIK3C2B	5287	broad.mit.edu	37	1	204401357	204401357	+	Nonsense_Mutation	SNP	C	C	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr1:204401357C>A	uc001haw.2	-	28	4605	c.4126G>T	c.(4126-4128)GAG>TAG	p.E1376*	PIK3C2B_uc010pqv.1_Nonsense_Mutation_p.E1348*	NM_002646	NP_002637	O00750	P3C2B_HUMAN	phosphoinositide-3-kinase, class 2 beta	1376	PX.				cell communication|phosphatidylinositol-mediated signaling	endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding			lung(2)|breast(2)|stomach(1)|prostate(1)|central_nervous_system(1)	7	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			AAGATCTTCTCATGGCGGCAG	0.537		NaN									OREG0014134	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1	0	3.46703e-50	0.139131	4.17363e-50	103	124									
NFASC	23114	broad.mit.edu	37	1	204956661	204956661	+	Silent	SNP	T	T	C			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr1:204956661T>C	uc001hbj.2	+	22	2914	c.2586T>C	c.(2584-2586)TAT>TAC	p.Y862Y	NFASC_uc010pra.1_Silent_p.Y965Y|NFASC_uc001hbi.2_Silent_p.Y965Y|NFASC_uc010prb.1_Silent_p.Y980Y|NFASC_uc010prc.1_Silent_p.Y536Y|NFASC_uc001hbk.1_Silent_p.Y775Y|NFASC_uc001hbl.1_Silent_p.Y112Y|NFASC_uc001hbm.1_Silent_p.Y8Y|NFASC_uc001hbn.1_Silent_p.Y8Y	NM_001005388	NP_001005388	O94856	NFASC_HUMAN	neurofascin isoform 1 precursor	865	Extracellular (Potential).|Fibronectin type-III 3.				axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding			ovary(3)|breast(1)|central_nervous_system(1)|skin(1)	6	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			CTCTCAAATATGTGGCCTGTA	0.488		NaN											0	0	0	0.069288	0	19	138									
DISP1	84976	broad.mit.edu	37	1	223175804	223175804	+	Silent	SNP	A	A	G			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr1:223175804A>G	uc001hnu.1	+	8	1212	c.1065A>G	c.(1063-1065)GGA>GGG	p.G355G		NM_032890	NP_116279	Q96F81	DISP1_HUMAN	dispatched A	355					diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway	basolateral plasma membrane|integral to membrane	hedgehog receptor activity|peptide transporter activity				0				GBM - Glioblastoma multiforme(131;0.102)		GGACACTGGGAAACTACATCG	0.502		NaN									OREG0014268|OREG0026708	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.038147	0	7	174									
CELF2	10659	broad.mit.edu	37	10	11207533	11207533	+	Silent	SNP	G	G	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr10:11207533G>A	uc001iki.3	+	2	230	c.138G>A	c.(136-138)CAG>CAA	p.Q46Q	CELF2_uc010qbi.1_5'UTR|CELF2_uc010qbj.1_Silent_p.Q46Q|CELF2_uc001ikk.2_Silent_p.Q53Q|CELF2_uc001ikl.3_Silent_p.Q53Q|CELF2_uc010qbk.1_RNA|CELF2_uc010qbl.1_Silent_p.Q22Q|CELF2_uc010qbm.1_5'UTR|CELF2_uc001iko.3_Silent_p.Q22Q|CELF2_uc001ikp.3_Silent_p.Q22Q|CELF2_uc010qbn.1_Silent_p.Q30Q|CELF2_uc009xiw.1_Silent_p.Q22Q|CELF2_uc010qbo.1_5'UTR|CELF2_uc010qbp.1_5'UTR	NM_001025077	NP_001020248	O95319	CELF2_HUMAN	CUG triplet repeat, RNA binding protein 2	46	Necessary for RNA-binding, TNNT2 exon 5 and NMDA R1 exon 21 inclusion.|RRM 1.				mRNA processing|regulation of heart contraction	cytoplasm|nucleus	nucleotide binding|protein binding|RNA binding				0						TTGTCGGACAGATCCCCCGGT	0.522		NaN											0	0	0	0.099896	0	27	91									
PDSS1	23590	broad.mit.edu	37	10	26998684	26998684	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr10:26998684C>T	uc001isv.2	+	5	500	c.454C>T	c.(454-456)CAT>TAT	p.H152Y	PDSS1_uc001isw.2_Missense_Mutation_p.H152Y	NM_014317	NP_055132	Q5T2R2	DPS1_HUMAN	prenyl diphosphate synthase, subunit 1	152					isoprenoid biosynthetic process|ubiquinone biosynthetic process	mitochondrion	metal ion binding|protein heterodimerization activity				0						CAATATTCATCATAACAACTC	0.393		NaN											0	0	0	0.134883	0	27	112									
ANKRD30A	91074	broad.mit.edu	37	10	37506789	37506789	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr10:37506789G>C	uc001iza.1	+	33	3181	c.3082G>C	c.(3082-3084)GAA>CAA	p.E1028Q		NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	1084	Potential.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(7)|breast(1)|skin(1)	9						GAAGAGTGTAGAAAGTAATTT	0.284		NaN											0	0	0	0.047766	0	8	30									
OGDHL	55753	broad.mit.edu	37	10	50947854	50947854	+	Silent	SNP	G	G	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr10:50947854G>T	uc001jie.2	-	17	2314	c.2172C>A	c.(2170-2172)CCC>CCA	p.P724P	OGDHL_uc009xog.2_Silent_p.P751P|OGDHL_uc010qgt.1_Silent_p.P667P|OGDHL_uc010qgu.1_Silent_p.P515P	NM_018245	NP_060715	Q9ULD0	OGDHL_HUMAN	oxoglutarate dehydrogenase-like isoform a	724					glycolysis	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			pancreas(1)	1						CCAGGGCATTGGGGCTGGCCA	0.572		NaN											1	0	4.3838e-07	0.105934	5.05735e-07	14	27									
CTNNA3	29119	broad.mit.edu	37	10	69281696	69281696	+	Silent	SNP	G	G	C	rs74142830	byFrequency	TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr10:69281696G>C	uc009xpn.1	-	5	606	c.483C>G	c.(481-483)CTC>CTG	p.L161L	CTNNA3_uc001jmw.2_Silent_p.L161L|CTNNA3_uc001jmx.3_Silent_p.L161L|CTNNA3_uc009xpo.1_Silent_p.L21L|CTNNA3_uc001jna.2_Silent_p.L173L	NM_001127384	NP_001120856	Q9UI47	CTNA3_HUMAN	catenin, alpha 3	161					cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity			skin(3)|ovary(2)|pancreas(1)|lung(1)|central_nervous_system(1)	8						CAACATTTTTGAGAGACTCAA	0.383		NaN											0	0	0	0.115264	0	3	76									
HK1	3098	broad.mit.edu	37	10	71144659	71144659	+	Silent	SNP	G	G	A	rs148999865		TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr10:71144659G>A	uc001jpl.3	+	12	1928	c.1827G>A	c.(1825-1827)ACG>ACA	p.T609T	HK1_uc001jpg.3_Silent_p.T597T|HK1_uc001jph.3_Silent_p.T613T|HK1_uc001jpi.3_Silent_p.T613T|HK1_uc001jpj.3_Silent_p.T644T|HK1_uc001jpk.3_Silent_p.T608T|HK1_uc009xqd.2_Silent_p.T487T	NM_000188	NP_000179	P19367	HXK1_HUMAN	hexokinase 1 isoform HKI	609	Catalytic.				glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane|nucleus	ATP binding|glucokinase activity			ovary(1)	1						GCCAGCAGACGAGTCTGGACG	0.587		NaN											0	0	0	0.047766	0	9	173									
DNAJB12	54788	broad.mit.edu	37	10	74100797	74100797	+	Missense_Mutation	SNP	C	C	T	rs147227290		TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr10:74100797C>T	uc010qjv.1	-	4	841	c.691G>A	c.(691-693)GAC>AAC	p.D231N	DNAJB12_uc001jsz.2_Missense_Mutation_p.D231N|DNAJB12_uc001jta.2_Missense_Mutation_p.D231N	NM_017626	NP_060096	Q9NXW2	DJB12_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 12	197					protein folding	endoplasmic reticulum|integral to membrane	heat shock protein binding|unfolded protein binding				0						GGGGAGATGTCGGCCTCAAAG	0.607		NaN											0	0	0	0.047766	0	9	36									
USP54	159195	broad.mit.edu	37	10	75301468	75301468	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr10:75301468G>A	uc001juo.2	-	6	618	c.601C>T	c.(601-603)CGA>TGA	p.R201*	USP54_uc001jum.2_RNA|USP54_uc001jun.2_RNA|USP54_uc001jup.2_Nonsense_Mutation_p.R201*|USP54_uc010qkl.1_Nonsense_Mutation_p.R201*|USP54_uc001juq.1_Translation_Start_Site	NM_152586	NP_689799	Q70EL1	UBP54_HUMAN	ubiquitin specific peptidase 54	201					ubiquitin-dependent protein catabolic process		protein binding|ubiquitin thiolesterase activity			breast(3)|lung(2)|kidney(1)	6	Prostate(51;0.0112)					GGTTTCTCTCGTCTTTCCAGC	0.453		NaN											0	0	0	0.0333	0	16	53									
COMTD1	118881	broad.mit.edu	37	10	76993969	76993969	+	Silent	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr10:76993969C>T	uc001jxb.2	-	7	735	c.651G>A	c.(649-651)GGG>GGA	p.G217G	COMTD1_uc001jxc.1_Missense_Mutation_p.E309K	NM_144589	NP_653190	Q86VU5	CMTD1_HUMAN	catechol-O-methyltransferase domain containing	217						integral to membrane	O-methyltransferase activity				0	all_cancers(46;0.0642)|all_epithelial(25;0.00604)|Prostate(51;0.0112)|Ovarian(15;0.183)					GCAGCACCTTCCCGCGCCACA	0.706		NaN											0	0	0	0.021553	0	5	46									
PLCE1	51196	broad.mit.edu	37	10	96018855	96018855	+	Silent	SNP	C	C	G			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr10:96018855C>G	uc001kjk.2	+	13	4396	c.3762C>G	c.(3760-3762)CTC>CTG	p.L1254L	PLCE1_uc010qnx.1_Silent_p.L1238L|PLCE1_uc001kjm.2_Silent_p.L946L	NM_016341	NP_057425	Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1 isoform 1	1254					activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity			ovary(2)|skin(1)	3		Colorectal(252;0.0458)				CAGCCCCACTCTACACCAACC	0.478		NaN											0	0	0	0.09836	0	36	132									
DNTT	1791	broad.mit.edu	37	10	98064410	98064410	+	Silent	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr10:98064410C>T	uc001kmf.2	+	1	326	c.156C>T	c.(154-156)CTC>CTT	p.L52L	DNTT_uc001kmg.2_Silent_p.L52L	NM_004088	NP_004079	P04053	TDT_HUMAN	terminal deoxynucleotidyltransferase isoform 1	52	BRCT.				DNA modification	nucleus	DNA binding|DNA nucleotidylexotransferase activity|DNA-directed DNA polymerase activity|metal ion binding			ovary(1)	1		Colorectal(252;0.0815)|all_hematologic(284;0.224)		Epithelial(162;7.97e-08)|all cancers(201;1.89e-06)		GAGCGTTCCTCATGGAGCTGG	0.493		NaN											0	0	0	0.047766	0	8	35									
SEMA4G	57715	broad.mit.edu	37	10	102738085	102738085	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr10:102738085G>C	uc010qpt.1	+	6	912	c.469G>C	c.(469-471)GAG>CAG	p.E157Q	SEMA4G_uc001krv.2_RNA|SEMA4G_uc001krw.1_Missense_Mutation_p.E157Q|SEMA4G_uc001krx.2_Missense_Mutation_p.E157Q|MRPL43_uc001kry.1_3'UTR|MRPL43_uc010qpu.1_3'UTR	NM_017893	NP_060363	Q9NTN9	SEM4G_HUMAN	semaphorin 4G	157	Extracellular (Potential).|Sema.				cell differentiation|nervous system development	integral to membrane	receptor activity			breast(1)	1		Colorectal(252;0.234)		Epithelial(162;3.71e-09)|all cancers(201;2.1e-07)		AACCAGCTTCGAGGAGGGGAA	0.532		NaN											0	0	0	0.021553	0	6	20									
PDCD4	27250	broad.mit.edu	37	10	112641289	112641289	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr10:112641289G>C	uc001kzh.2	+	3	585	c.342G>C	c.(340-342)AAG>AAC	p.K114N	PDCD4_uc001kzg.2_Missense_Mutation_p.K103N|PDCD4_uc010qre.1_Missense_Mutation_p.K100N	NM_014456	NP_055271	Q53EL6	PDCD4_HUMAN	programmed cell death 4 isoform 1	114					apoptosis|cell aging|negative regulation of cell cycle|negative regulation of JUN kinase activity|negative regulation of transcription, DNA-dependent	cytosol|nucleus	protein binding|RNA binding			ovary(1)|breast(1)|skin(1)	3		Breast(234;0.0848)|Lung NSC(174;0.238)		Epithelial(162;0.000526)|all cancers(201;0.00794)|BRCA - Breast invasive adenocarcinoma(275;0.125)		GACTACCAAAGAAAGGTTGGT	0.433		NaN											0	0	0	0.049695	0	19	91									
MKI67	4288	broad.mit.edu	37	10	129904961	129904961	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr10:129904961C>T	uc001lke.2	-	13	5338	c.5143G>A	c.(5143-5145)GAG>AAG	p.E1715K	MKI67_uc001lkf.2_Missense_Mutation_p.E1355K|MKI67_uc009yav.1_Missense_Mutation_p.E1290K|MKI67_uc009yaw.1_Missense_Mutation_p.E865K	NM_002417	NP_002408	P46013	KI67_HUMAN	antigen identified by monoclonal antibody Ki-67	1715	6.|16 X 122 AA approximate repeats.				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)				TGGAAGAGCTCGATGAAGCCG	0.498		NaN											0	0	0	0.0333	0	15	58									
MKI67	4288	broad.mit.edu	37	10	129904991	129904991	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr10:129904991C>T	uc001lke.2	-	13	5308	c.5113G>A	c.(5113-5115)GAA>AAA	p.E1705K	MKI67_uc001lkf.2_Missense_Mutation_p.E1345K|MKI67_uc009yav.1_Missense_Mutation_p.E1280K|MKI67_uc009yaw.1_Missense_Mutation_p.E855K	NM_002417	NP_002408	P46013	KI67_HUMAN	antigen identified by monoclonal antibody Ki-67	1705	6.|16 X 122 AA approximate repeats.				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)				TCAGGGACTTCAGACTTTCCC	0.468		NaN											0	0	0	0.11911	0	14	64									
C10orf93	255352	broad.mit.edu	37	10	134752189	134752189	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr10:134752189C>G	uc001llt.1	-	5	516	c.440G>C	c.(439-441)GGA>GCA	p.G147A	C10orf93_uc001llu.2_Missense_Mutation_p.G147A	NM_173572	NP_775843	Q5SR76	CJ093_HUMAN	hypothetical protein LOC255352	147							binding			pancreas(1)	1		all_cancers(35;1.8e-07)|all_epithelial(44;6.22e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Colorectal(31;0.119)|Glioma(114;0.172)|Melanoma(40;0.175)		Epithelial(32;4.28e-05)|OV - Ovarian serous cystadenocarcinoma(35;4.31e-05)|all cancers(32;5.02e-05)		GTGACGATATCCAGGCTTGAG	0.537		NaN											0	0	0	0.043863	0	18	100									
TRIM5	85363	broad.mit.edu	37	11	5687293	5687293	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr11:5687293C>G	uc001mbm.1	-	6	1043	c.786G>C	c.(784-786)TTG>TTC	p.L262F	TRIM78P_uc009yer.2_RNA|TRIM5_uc001mbl.1_RNA|TRIM5_uc001mbn.2_Missense_Mutation_p.L262F|TRIM5_uc001mbo.2_Missense_Mutation_p.L262F|TRIM5_uc001mbp.2_Missense_Mutation_p.L262F	NM_033034	NP_149023	Q9C035	TRIM5_HUMAN	tripartite motif protein TRIM5 isoform alpha	262					interspecies interaction between organisms|protein trimerization|response to virus	cytoplasm|cytoplasmic mRNA processing body	ligase activity|protein binding|protein homodimerization activity|zinc ion binding			ovary(1)	1		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)|Lung NSC(207;0.138)|all_lung(207;0.221)		Epithelial(150;7.21e-09)|BRCA - Breast invasive adenocarcinoma(625;0.139)		CTGGCTTCTTCAAGGTCACGT	0.398		NaN											0	0	0	0.132662	0	15	41									
CCKBR	887	broad.mit.edu	37	11	6292495	6292495	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr11:6292495C>T	uc001mcp.2	+	5	1259	c.1066C>T	c.(1066-1068)CGC>TGC	p.R356C	CCKBR_uc001mcq.2_Missense_Mutation_p.R284C|CCKBR_uc001mcr.2_Missense_Mutation_p.R356C|CCKBR_uc001mcs.2_Missense_Mutation_p.R425C|CCKBR_uc001mct.1_RNA	NM_176875	NP_795344	P32239	GASR_HUMAN	cholecystokinin B receptor	356	Extracellular (Potential).				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cell proliferation|digestion|elevation of cytosolic calcium ion concentration|feeding behavior|positive regulation of cell proliferation|sensory perception		1-phosphatidylinositol-3-kinase regulator activity|gastrin receptor activity|phosphatidylinositol phospholipase C activity|type B gastrin/cholecystokinin receptor binding			lung(5)|ovary(2)|breast(1)	8		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.139)	Pentagastrin(DB00183)	CAACACGTGGCGCGCCTTTGA	0.567		NaN											0	0	0	0.146539	0	16	58									
MICAL2	9645	broad.mit.edu	37	11	12248632	12248632	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr11:12248632C>G	uc001mjz.2	+	15	2237	c.1949C>G	c.(1948-1950)TCT>TGT	p.S650C	MICAL2_uc010rch.1_Missense_Mutation_p.S650C|MICAL2_uc001mka.2_Missense_Mutation_p.S650C|MICAL2_uc010rci.1_Missense_Mutation_p.S650C|MICAL2_uc001mkb.2_Missense_Mutation_p.S650C|MICAL2_uc001mkc.2_Missense_Mutation_p.S650C|MICAL2_uc001mkd.2_Missense_Mutation_p.S479C|MICAL2_uc010rcj.1_Missense_Mutation_p.S52C	NM_014632	NP_055447	O94851	MICA2_HUMAN	microtubule associated monoxygenase, calponin	650						cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			upper_aerodigestive_tract(2)	2				Epithelial(150;0.00552)		TCATCCATTTCTAATAACTAT	0.448		NaN											0	0	0	0.047766	0	5	27									
C11orf41	25758	broad.mit.edu	37	11	33631370	33631370	+	Nonsense_Mutation	SNP	G	G	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr11:33631370G>T	uc001mup.3	+	14	4388	c.4264G>T	c.(4264-4266)GGA>TGA	p.G1422*		NM_012194	NP_036326	Q6ZVL6	CK041_HUMAN	hypothetical protein LOC25758	1416						integral to membrane				ovary(2)	2						CAAGAGGAAGGGATATTACGA	0.517		NaN											1	0	2.17888e-05	0.058154	2.49417e-05	9	18									
CHST1	8534	broad.mit.edu	37	11	45671793	45671793	+	Silent	SNP	G	G	C			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr11:45671793G>C	uc001mys.1	-	4	1352	c.681C>G	c.(679-681)CTC>CTG	p.L227L		NM_003654	NP_003645	O43916	CHST1_HUMAN	carbohydrate (keratan sulfate Gal-6)	227	Lumenal (Potential).				galactose metabolic process|inflammatory response|keratan sulfate metabolic process	Golgi membrane|integral to membrane	keratan sulfotransferase activity			skin(4)|pancreas(1)	5				GBM - Glioblastoma multiforme(35;3e-06)|BRCA - Breast invasive adenocarcinoma(625;0.0781)		GGATGACCTTGAGGTTTAATC	0.687		NaN											0	0	0	0.043863	0	19	26									
OR4X2	119764	broad.mit.edu	37	11	48267481	48267481	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr11:48267481C>T	uc001ngs.1	+	1	826	c.826C>T	c.(826-828)CCT>TCT	p.P276S		NM_001004727	NP_001004727	Q8NGF9	OR4X2_HUMAN	olfactory receptor, family 4, subfamily X,	276	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0						GATCCTGAACCCTGTCATCTA	0.483		NaN											0	0	0	0.0333	0	16	28									
OR4S1	256148	broad.mit.edu	37	11	48328337	48328337	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr11:48328337C>T	uc010rhu.1	+	1	563	c.563C>T	c.(562-564)GCA>GTA	p.A188V		NM_001004725	NP_001004725	Q8NGB4	OR4S1_HUMAN	olfactory receptor, family 4, subfamily S,	188	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1						TTGGCCTGTGCAGACACCTAC	0.463		NaN											0	0	0	0.045705	0	32	23									
SERPING1	710	broad.mit.edu	37	11	57379282	57379282	+	Silent	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr11:57379282C>T	uc001nkp.1	+	7	1313	c.1122C>T	c.(1120-1122)CTC>CTT	p.L374L	SERPING1_uc001nkq.1_Intron|SERPING1_uc010rju.1_Silent_p.L322L|SERPING1_uc010rjv.1_Silent_p.L379L|SERPING1_uc001nkr.1_Silent_p.L374L|SERPING1_uc009ymi.1_Silent_p.L383L|SERPING1_uc009ymj.1_Intron|SERPING1_uc001nks.1_Silent_p.L65L	NM_000062	NP_000053	P05155	IC1_HUMAN	serpin peptidase inhibitor, clade G, member 1	374				MEQALS -> TGTGSQ (in Ref. 19; AA sequence).	blood circulation|blood coagulation, intrinsic pathway|complement activation, classical pathway|innate immune response|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation	extracellular space|platelet alpha granule lumen	protein binding|serine-type endopeptidase inhibitor activity			central_nervous_system(1)	1						AACAGGCTCTCAGCCCTTCTG	0.522		NaN							Hereditary_Angioedema				0	0	0	0.139131	0	78	121									
STIP1	10963	broad.mit.edu	37	11	63971071	63971071	+	Silent	SNP	G	G	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr11:63971071G>A	uc001nyk.1	+	13	1683	c.1536G>A	c.(1534-1536)CAG>CAA	p.Q512Q	STIP1_uc010rnb.1_Silent_p.Q488Q	NM_006819	NP_006810	P31948	STIP1_HUMAN	stress-induced-phosphoprotein 1	512	STI1 2.				axon guidance|response to stress	Golgi apparatus|nucleus				ovary(2)|liver(1)	3						AACAGATGCAGAAGGACCCCC	0.597		NaN											0	0	0	0.069234	0	10	43									
KAT5	10524	broad.mit.edu	37	11	65481068	65481068	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr11:65481068G>A	uc001ofi.2	+	6	696	c.446G>A	c.(445-447)CGG>CAG	p.R149Q	KAT5_uc001ofj.2_Missense_Mutation_p.R97Q|KAT5_uc001ofk.2_Missense_Mutation_p.R182Q|KAT5_uc010roo.1_Missense_Mutation_p.R130Q|KAT5_uc001ofl.2_5'UTR	NM_006388	NP_006379	Q92993	KAT5_HUMAN	K(lysine) acetyltransferase 5 isoform 2	149					androgen receptor signaling pathway|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|double-strand break repair|interspecies interaction between organisms|negative regulation of interleukin-2 production|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of growth|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nucleolus|perinuclear region of cytoplasm|Piccolo NuA4 histone acetyltransferase complex	androgen receptor binding|histone acetyltransferase activity|metal ion binding|repressing transcription factor binding|transcription coactivator activity				0						CTGCAGAAACGGAAGGTGGAG	0.547		NaN											0	0	0	0.076483	0	24	81									
CD248	57124	broad.mit.edu	37	11	66083095	66083095	+	Silent	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr11:66083095C>T	uc001ohm.1	-	1	1421	c.1404G>A	c.(1402-1404)GTG>GTA	p.V468V		NM_020404	NP_065137	Q9HCU0	CD248_HUMAN	tumor endothelial marker 1 precursor	468	Pro-rich.|Extracellular (Potential).					integral to membrane|proteinaceous extracellular matrix	calcium ion binding|sugar binding			large_intestine(3)	3					Cefalotin(DB00456)	TGGCAGGGATCACAGGAGGCT	0.622		NaN											0	0	0	0.080422	0	34	125									
SPTBN2	6712	broad.mit.edu	37	11	66473242	66473242	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr11:66473242C>T	uc001ojd.2	-	13	1792	c.1720G>A	c.(1720-1722)GAG>AAG	p.E574K		NM_006946	NP_008877	O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	574	Spectrin 3.				actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton			large_intestine(1)|pancreas(1)|central_nervous_system(1)|skin(1)	4						TCCACCAGCTCGTGCAGCTGC	0.667		NaN											0	0	0	0.069234	0	11	29									
PPFIA1	8500	broad.mit.edu	37	11	70194497	70194497	+	Nonsense_Mutation	SNP	G	G	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr11:70194497G>T	uc001opo.2	+	16	2332	c.2134G>T	c.(2134-2136)GAA>TAA	p.E712*	PPFIA1_uc001opn.1_Nonsense_Mutation_p.E712*|PPFIA1_uc001opp.2_RNA|PPFIA1_uc001opq.1_RNA	NM_003626	NP_003617	Q13136	LIPA1_HUMAN	PTPRF interacting protein alpha 1 isoform b	712					cell-matrix adhesion	cytoplasm	protein binding|signal transducer activity			lung(2)|ovary(1)	3			BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)			CCCAGCTCGGGAAGTGGACAG	0.602		NaN											1	0	2.73361e-28	0.139131	3.26413e-28	64	163									
INTS4	92105	broad.mit.edu	37	11	77629999	77629999	+	Nonsense_Mutation	SNP	G	G	C			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr11:77629999G>C	uc001oys.2	-	15	1818	c.1790C>G	c.(1789-1791)TCA>TGA	p.S597*	INTS4_uc001oyt.2_RNA	NM_033547	NP_291025	Q96HW7	INT4_HUMAN	integrator complex subunit 4	597					snRNA processing	integrator complex	protein binding			ovary(2)	2	all_cancers(14;4.53e-19)|all_epithelial(13;1.73e-21)|Breast(9;2.71e-16)|Ovarian(111;0.152)		Epithelial(5;1.13e-46)|all cancers(3;8.92e-44)|BRCA - Breast invasive adenocarcinoma(5;8.4e-26)|OV - Ovarian serous cystadenocarcinoma(8;1.05e-23)			AGAAACAGCTGATGACACCAG	0.458		NaN											0	0	0	0.099896	0	24	158									
MTMR2	8898	broad.mit.edu	37	11	95591730	95591730	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr11:95591730G>C	uc001pfu.2	-	6	788	c.535C>G	c.(535-537)CTA>GTA	p.L179V	MTMR2_uc001pfv.2_Missense_Mutation_p.L107V|MTMR2_uc001pfs.2_Missense_Mutation_p.L107V|MTMR2_uc001pft.2_Missense_Mutation_p.L107V|MTMR2_uc010ruj.1_Missense_Mutation_p.L162V	NM_016156	NP_057240	Q13614	MTMR2_HUMAN	myotubularin-related protein 2 isoform 1	179						nucleus	inositol or phosphatidylinositol phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			pancreas(1)	1		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				TATTTCATTAGATTCTCAAAT	0.318		NaN											0	0	0	0.139131	0	40	160									
PHB2	11331	broad.mit.edu	37	12	7076925	7076925	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr12:7076925G>A	uc001qsd.2	-	6	835	c.625C>T	c.(625-627)CGG>TGG	p.R209W	PHB2_uc010sft.1_Intron|PHB2_uc010sfu.1_3'UTR|PHB2_uc001qse.1_5'Flank|PHB2_uc001qsf.1_5'Flank|PHB2_uc009zfn.1_5'Flank|SCARNA12_uc001qsg.2_5'Flank	NM_001144831	NP_001138303	Q99623	PHB2_HUMAN	prohibitin 2 isoform 1	209	Potential.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial inner membrane|nucleus	estrogen receptor binding|receptor activity			ovary(2)|pancreas(1)	3						AATTGGGCCCGCTGGGCCTCC	0.587		NaN											0	0	0	0.139131	0	53	193									
GDF3	9573	broad.mit.edu	37	12	7842947	7842947	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr12:7842947C>G	uc001qte.2	-	2	658	c.622G>C	c.(622-624)GAA>CAA	p.E208Q		NM_020634	NP_065685	Q9NR23	GDF3_HUMAN	growth differentiation factor 3 precursor	208					eye development|growth|skeletal system development	extracellular space	cytokine activity|growth factor activity			skin(3)|ovary(1)|lung(1)|central_nervous_system(1)	6						TCTCTATCTTCTTTGACCAGT	0.493		NaN											0	0	0	0.062417	0	23	49									
FOXJ2	55810	broad.mit.edu	37	12	8205417	8205417	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr12:8205417G>C	uc001qtu.2	+	11	2781	c.1696G>C	c.(1696-1698)GAT>CAT	p.D566H		NM_018416	NP_060886	Q9P0K8	FOXJ2_HUMAN	forkhead box J2	566					embryo development|organ development|pattern specification process|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|tissue development	nucleolus|transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding			upper_aerodigestive_tract(2)|ovary(2)|skin(1)	5				Kidney(36;0.0944)		GGAGATCCCTGATGACTTCGA	0.532		NaN											0	0	0	0.009096	0	4	11									
KIAA1467	57613	broad.mit.edu	37	12	13208508	13208508	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr12:13208508G>A	uc001rbi.2	+	2	84	c.61G>A	c.(61-63)GAG>AAG	p.E21K	KIAA1467_uc009zhx.1_RNA	NM_020853	NP_065904	A2RU67	K1467_HUMAN	hypothetical protein LOC57613	21						integral to membrane				central_nervous_system(2)|skin(1)	3		Prostate(47;0.184)		BRCA - Breast invasive adenocarcinoma(232;0.157)		AGACCTAGGGGAGTATGATCC	0.473		NaN											0	0	0	0.0333	0	16	45									
RERG	85004	broad.mit.edu	37	12	15262116	15262116	+	Silent	SNP	C	C	T	rs147938337	byFrequency	TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr12:15262116C>T	uc001rcs.2	-	4	668	c.528G>A	c.(526-528)AAG>AAA	p.K176K	RERG_uc001rct.2_Silent_p.K176K|RERG_uc010shu.1_Silent_p.K157K	NM_032918	NP_116307	Q96A58	RERG_HUMAN	RAS-like, estrogen-regulated, growth inhibitor	176					negative regulation of cell growth|negative regulation of cell proliferation|response to hormone stimulus|small GTPase mediated signal transduction	cytosol|membrane|nucleus	estrogen receptor binding|GDP binding|GTP binding|GTPase activity			lung(1)	1						GTCGCCTCGTCTTGCCCTGCA	0.522		NaN											0	0	0	0.069456	0	37	86									
PTPRO	5800	broad.mit.edu	37	12	15733754	15733754	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr12:15733754G>C	uc001rcv.1	+	22	3295	c.3121G>C	c.(3121-3123)GAG>CAG	p.E1041Q	PTPRO_uc001rcw.1_Missense_Mutation_p.E1013Q|PTPRO_uc001rcx.1_Missense_Mutation_p.E230Q|PTPRO_uc001rcy.1_Missense_Mutation_p.E230Q|PTPRO_uc001rcz.1_Missense_Mutation_p.E202Q|PTPRO_uc001rda.1_Missense_Mutation_p.E202Q	NM_030667	NP_109592	Q16827	PTPRO_HUMAN	receptor-type protein tyrosine phosphatase O	1041	Cytoplasmic (Potential).|Tyrosine-protein phosphatase.					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			skin(5)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)	9		Hepatocellular(102;0.244)				TCAGTGTAATGAGAAAAGGAG	0.448		NaN											0	0	0	0.11911	0	13	54									
SLCO1B1	10599	broad.mit.edu	37	12	21358897	21358897	+	Missense_Mutation	SNP	A	A	G			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr12:21358897A>G	uc001req.3	+	11	1531	c.1427A>G	c.(1426-1428)AAC>AGC	p.N476S		NM_006446	NP_006437	Q9Y6L6	SO1B1_HUMAN	solute carrier organic anion transporter family,	476	Extracellular (Potential).|Kazal-like.				bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	bile acid transmembrane transporter activity|sodium-independent organic anion transmembrane transporter activity|thyroid hormone transmembrane transporter activity			ovary(3)|skin(3)|pancreas(1)|central_nervous_system(1)	8					Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175)	GTCTGTGGAAACAATGGAATA	0.383		NaN											0	0	0	0.11911	0	15	49									
CNTN1	1272	broad.mit.edu	37	12	41337481	41337481	+	Missense_Mutation	SNP	A	A	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr12:41337481A>T	uc001rmm.1	+	13	1575	c.1462A>T	c.(1462-1464)AAT>TAT	p.N488Y	CNTN1_uc009zjy.1_Missense_Mutation_p.N488Y|CNTN1_uc001rmn.1_Missense_Mutation_p.N477Y|CNTN1_uc001rmo.2_Missense_Mutation_p.N488Y	NM_001843	NP_001834	Q12860	CNTN1_HUMAN	contactin 1 isoform 1 precursor	488	Ig-like C2-type 5.				axon guidance|cell adhesion|Notch signaling pathway	anchored to membrane|membrane fraction|plasma membrane				lung(4)|ovary(3)|large_intestine(1)|skin(1)	9	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				CTTTGCAGAAAATAACAGAGG	0.333		NaN											0	0	0	0.02938	0	6	30									
SLC38A1	81539	broad.mit.edu	37	12	46598164	46598164	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr12:46598164G>C	uc001rpa.2	-	11	1000	c.742C>G	c.(742-744)CCA>GCA	p.P248A	SLC38A1_uc001rpb.2_Missense_Mutation_p.P248A|SLC38A1_uc001rpc.2_Missense_Mutation_p.P248A|SLC38A1_uc001rpd.2_Missense_Mutation_p.P248A|SLC38A1_uc001rpe.2_Missense_Mutation_p.P248A|SLC38A1_uc010slh.1_Missense_Mutation_p.P221A|SLC38A1_uc009zkj.1_Missense_Mutation_p.P248A	NM_030674	NP_109599	Q9H2H9	S38A1_HUMAN	amino acid transporter system A1	248	Extracellular (Potential).				cellular nitrogen compound metabolic process|neurotransmitter uptake	integral to membrane|plasma membrane	sodium:amino acid symporter activity			ovary(2)|skin(2)|central_nervous_system(1)	5	Lung SC(27;0.137)|Renal(347;0.236)		all cancers(1;0.00805)|OV - Ovarian serous cystadenocarcinoma(5;0.0106)|Epithelial(2;0.0344)			TTTAGCTCTGGAACAATGCAG	0.323		NaN											0	0	0	0.116897	0	29	140									
VDR	7421	broad.mit.edu	37	12	48240460	48240460	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr12:48240460C>T	uc001rqm.2	-	9	1169	c.887G>A	c.(886-888)CGC>CAC	p.R296H	VDR_uc001rql.2_Missense_Mutation_p.R346H|VDR_uc001rqn.2_Missense_Mutation_p.R296H|VDR_uc010slq.1_Missense_Mutation_p.R264H	NM_001017535	NP_001017535	P11473	VDR_HUMAN	vitamin D (1,25-dihydroxyvitamin D3) receptor	296	Ligand-binding.				decidualization|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of vitamin D 24-hydroxylase activity|regulation of calcidiol 1-monooxygenase activity|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	retinoid X receptor binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|vitamin D3 receptor activity|zinc ion binding			ovary(1)|central_nervous_system(1)|skin(1)	3		Acute lymphoblastic leukemia(13;0.109)|all_hematologic(14;0.214)		GBM - Glioblastoma multiforme(48;0.17)	Calcidiol(DB00146)|Calcipotriol(DB02300)|Calcitriol(DB00136)|Dihydrotachysterol(DB01070)|Ergocalciferol(DB00153)|Paricalcitol(DB00910)	GTCACTGACGCGGTACTTGTA	0.542		NaN											0	0	0	0.108266	0	28	33									
MLL2	8085	broad.mit.edu	37	12	49434818	49434818	+	Silent	SNP	G	G	C			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr12:49434818G>C	uc001rta.3	-	31	6735	c.6735C>G	c.(6733-6735)CTC>CTG	p.L2245L		NM_003482	NP_003473	O14686	MLL2_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 2	2245	Pro-rich.				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41						AGCGGGGTTTGAGGAATGGGT	0.657		NaN	N|F|Mis		medulloblastoma|renal					HNSCC(34;0.089)			0	0	0	0.043863	0	18	52									
KRT6B	3854	broad.mit.edu	37	12	52845415	52845415	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr12:52845415G>C	uc001sak.2	-	1	496	c.448C>G	c.(448-450)CTG>GTG	p.L150V		NM_005555	NP_005546	P04259	K2C6B_HUMAN	keratin 6B	150	Head.				ectoderm development	keratin filament	structural constituent of cytoskeleton			ovary(2)	2				BRCA - Breast invasive adenocarcinoma(357;0.083)		TCAATTTGCAGGTTGAGGGGA	0.612		NaN											0	0	0	0.049695	0	17	122									
KRT73	319101	broad.mit.edu	37	12	53004528	53004528	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr12:53004528C>T	uc001sas.2	-	7	1237	c.1202G>A	c.(1201-1203)GGC>GAC	p.G401D		NM_175068	NP_778238	Q86Y46	K2C73_HUMAN	keratin 73	401	Rod.|Coil 2.					keratin filament	structural molecule activity			large_intestine(2)|ovary(2)|skin(2)	6				BRCA - Breast invasive adenocarcinoma(357;0.189)		CTGCAGGGCGCCCTCCAGCTC	0.637		NaN											0	0	0	0.11911	0	13	69									
ITGA5	3678	broad.mit.edu	37	12	54799103	54799103	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr12:54799103G>A	uc001sga.2	-	12	1140	c.1072C>T	c.(1072-1074)CGG>TGG	p.R358W	ITGA5_uc010sow.1_RNA|ITGA5_uc009znp.1_RNA	NM_002205	NP_002196	P08648	ITA5_HUMAN	integrin alpha 5 precursor	358	Extracellular (Potential).|FG-GAP 5.				angiogenesis|axon guidance|blood coagulation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|wound healing, spreading of epidermal cells	alphav-beta3 integrin-vitronectin complex|integrin complex|ruffle	platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding			ovary(2)	2						TCCTGAGGCCGCCCGTCAGGG	0.647		NaN											0	0	0	0.021553	0	6	26									
OR6C65	403282	broad.mit.edu	37	12	55794819	55794819	+	Silent	SNP	C	C	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr12:55794819C>A	uc010spl.1	+	1	507	c.507C>A	c.(505-507)TCC>TCA	p.S169S		NM_001005518	NP_001005518	A6NJZ3	O6C65_HUMAN	olfactory receptor, family 6, subfamily C,	169	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0						TTTGTGACTCCAGCACTATTG	0.438		NaN											1	0	8.06951e-73	0.139131	9.7672e-73	145	195									
BAZ2A	11176	broad.mit.edu	37	12	56998908	56998908	+	Silent	SNP	G	G	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr12:56998908G>A	uc001slq.1	-	14	2897	c.2703C>T	c.(2701-2703)GTC>GTT	p.V901V	BAZ2A_uc001slp.1_Silent_p.V899V|BAZ2A_uc001slo.1_5'Flank|BAZ2A_uc009zov.1_5'Flank|BAZ2A_uc009zow.1_Silent_p.V869V	NM_013449	NP_038477	Q9UIF9	BAZ2A_HUMAN	bromodomain adjacent to zinc finger domain, 2A	901	DDT.				chromatin silencing at rDNA|DNA methylation|transcription, DNA-dependent	chromatin silencing complex|nucleolus|rDNA heterochromatin	DNA binding|histone acetyl-lysine binding|ligand-dependent nuclear receptor binding|RNA binding|zinc ion binding				0						TCAGCAGCCTGACCAGCAGGT	0.557		NaN											0	0	0	0.058154	0	9	55									
BEST3	144453	broad.mit.edu	37	12	70066697	70066697	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr12:70066697C>G	uc001svg.2	-	8	1143	c.916G>C	c.(916-918)GAA>CAA	p.E306Q	BEST3_uc001svd.1_Missense_Mutation_p.E306Q|BEST3_uc001sve.1_RNA|BEST3_uc001svf.2_Missense_Mutation_p.E93Q|BEST3_uc010stm.1_Missense_Mutation_p.E200Q|BEST3_uc001svh.2_Missense_Mutation_p.E93Q	NM_032735	NP_116124	Q8N1M1	BEST3_HUMAN	vitelliform macular dystrophy 2-like 3 isoform	306	Cytoplasmic (Potential).					chloride channel complex|plasma membrane	chloride channel activity				0	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)			CAGTTAGTTTCAAAATCATCA	0.274		NaN											0	0	0	0.080935	0	10	39									
PTPRB	5787	broad.mit.edu	37	12	70938355	70938355	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr12:70938355G>A	uc001swb.3	-	20	4852	c.4822C>T	c.(4822-4824)CCC>TCC	p.P1608S	PTPRB_uc010sto.1_Missense_Mutation_p.P1518S|PTPRB_uc010stp.1_Missense_Mutation_p.P1518S|PTPRB_uc001swc.3_Missense_Mutation_p.P1826S|PTPRB_uc001swa.3_Missense_Mutation_p.P1738S	NM_002837	NP_002828	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	1608	Extracellular (Potential).				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			lung(2)|skin(1)	3	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			GTAGTGATGGGTAAAGAAAAA	0.408		NaN											0	0	0	0.09319	0	12	15									
LGR5	8549	broad.mit.edu	37	12	71977759	71977759	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr12:71977759C>G	uc001swl.2	+	18	2017	c.1969C>G	c.(1969-1971)CTG>GTG	p.L657V	LGR5_uc001swm.2_Missense_Mutation_p.L633V|LGR5_uc001swn.1_Intron	NM_003667	NP_003658	O75473	LGR5_HUMAN	leucine-rich repeat-containing G protein-coupled	657	Helical; Name=3; (Potential).					integral to plasma membrane	protein-hormone receptor activity			lung(4)|skin(3)|ovary(1)|pancreas(1)	9						CCTGCTTACTCTGGCAGCCCT	0.448		NaN											0	0	0	0.108266	0	27	95									
PAH	5053	broad.mit.edu	37	12	103246654	103246654	+	Nonsense_Mutation	SNP	G	G	A	rs5030850		TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr12:103246654G>A	uc001tjq.1	-	8	1253	c.781C>T	c.(781-783)CGA>TGA	p.R261*		NM_000277	NP_000268	P00439	PH4H_HUMAN	phenylalanine hydroxylase	261			R -> P (in PKU).		catecholamine biosynthetic process|L-phenylalanine catabolic process|neurotransmitter biosynthetic process	cytosol	phenylalanine 4-monooxygenase activity			ovary(4)	4					Epinephrine(DB00668)|L-Phenylalanine(DB00120)|Levodopa(DB01235)|Norepinephrine(DB00368)|Tetrahydrobiopterin(DB00360)	TGGAAGACTCGGAAGGCCAGG	0.542		NaN											0	0	0	0.021553	0	5	82									
IFT81	28981	broad.mit.edu	37	12	110581342	110581342	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr12:110581342G>C	uc001tqi.2	+	9	1067	c.937G>C	c.(937-939)GAA>CAA	p.E313Q	IFT81_uc001tqh.2_Missense_Mutation_p.E313Q|IFT81_uc001tqj.2_RNA|IFT81_uc001tqg.2_Missense_Mutation_p.E313Q	NM_001143779	NP_001137251	Q8WYA0	IFT81_HUMAN	intraflagellar transport 81-like isoform 1	313	Potential.				cell differentiation|multicellular organismal development|spermatogenesis	intraflagellar transport particle B|microtubule-based flagellum				ovary(1)	1						TCTTGAACTTGAATCTAAAGT	0.308		NaN											0	0	0	0.083992	0	22	115									
NOS1	4842	broad.mit.edu	37	12	117662862	117662862	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr12:117662862C>T	uc001twm.1	-	25	4471	c.3785G>A	c.(3784-3786)CGA>CAA	p.R1262Q		NM_000620	NP_000611	P29475	NOS1_HUMAN	nitric oxide synthase 1, neuronal	1262	NADP (By similarity).				multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			ovary(3)|skin(3)|pancreas(1)	7	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	CCAGAAGCTTCGGAAAGGGGC	0.617		NaN											0	0	0	0.11126	0	42	160									
ZCCHC8	55596	broad.mit.edu	37	12	122958378	122958378	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr12:122958378G>A	uc001ucn.2	-	14	1921	c.1790C>T	c.(1789-1791)TCC>TTC	p.S597F	ZCCHC8_uc001ucl.2_Missense_Mutation_p.S208F|ZCCHC8_uc001ucm.2_Missense_Mutation_p.S359F|ZCCHC8_uc009zxp.2_Missense_Mutation_p.S359F|ZCCHC8_uc009zxq.2_Missense_Mutation_p.S359F	NM_017612	NP_060082	Q6NZY4	ZCHC8_HUMAN	zinc finger, CCHC domain containing 8	597						catalytic step 2 spliceosome	nucleic acid binding|protein binding|zinc ion binding				0	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;5.25e-05)|Epithelial(86;0.000113)|BRCA - Breast invasive adenocarcinoma(302;0.202)		GTCTGGACTGGAGGCATGTCC	0.488		NaN											0	0	0	0.139131	0	52	201									
ATP6V0A2	23545	broad.mit.edu	37	12	124236904	124236904	+	Silent	SNP	A	A	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr12:124236904A>T	uc001ufr.2	+	17	2378	c.2130A>T	c.(2128-2130)GGA>GGT	p.G710G		NM_012463	NP_036595	Q9Y487	VPP2_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit	710	Cytoplasmic (Potential).				ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|immune response|insulin receptor signaling pathway|transferrin transport	endosome membrane|integral to membrane|plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	hydrogen ion transmembrane transporter activity|protein binding			ovary(2)	2	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000224)|Epithelial(86;0.000625)|all cancers(50;0.00775)		TAGAAGAGGGAAATCACCAGG	0.398		NaN											0	0	0	0.09319	0	12	48									
POLE	5426	broad.mit.edu	37	12	133210898	133210898	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr12:133210898C>G	uc001uks.1	-	43	5922	c.5878G>C	c.(5878-5880)GAT>CAT	p.D1960H	POLE_uc001ukq.1_Missense_Mutation_p.D170H|POLE_uc001ukr.1_Missense_Mutation_p.D764H|POLE_uc010tbq.1_RNA	NM_006231	NP_006222	Q07864	DPOE1_HUMAN	DNA-directed DNA polymerase epsilon	1960					base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding			ovary(3)|skin(3)|lung(1)|central_nervous_system(1)	8	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)		tcctccccatctctttcctcc	0.333		NaN						DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage					0	0	0	0.038395	0	17	62									
RNF6	6049	broad.mit.edu	37	13	26793668	26793668	+	Missense_Mutation	SNP	T	T	C			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr13:26793668T>C	uc001uqo.2	-	3	410	c.119A>G	c.(118-120)TAT>TGT	p.Y40C	RNF6_uc001uqn.1_Missense_Mutation_p.Y40C|RNF6_uc010aak.2_Missense_Mutation_p.Y40C|RNF6_uc001uqp.2_Missense_Mutation_p.Y40C|RNF6_uc001uqq.2_Missense_Mutation_p.Y40C|RNF6_uc010tdk.1_5'UTR	NM_183044	NP_898865	Q9Y252	RNF6_HUMAN	ring finger protein 6	40					negative regulation of axon extension|positive regulation of transcription, DNA-dependent|protein K27-linked ubiquitination|protein K48-linked ubiquitination|protein K6-linked ubiquitination|regulation of androgen receptor signaling pathway|ubiquitin-dependent protein catabolic process	axon|cytoplasm|PML body	androgen receptor binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)|skin(1)	2	Colorectal(5;0.000442)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.00893)|Epithelial(112;0.0481)|OV - Ovarian serous cystadenocarcinoma(117;0.148)|GBM - Glioblastoma multiforme(144;0.23)|Lung(94;0.245)		AAACTGATAATAGGCCTCTTC	0.408		NaN											0	0	0	0.116897	0	29	67									
SLC46A3	283537	broad.mit.edu	37	13	29287107	29287107	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr13:29287107C>T	uc001usi.2	-	2	1740	c.770G>A	c.(769-771)CGA>CAA	p.R257Q	SLC46A3_uc001usg.2_Missense_Mutation_p.R182Q|SLC46A3_uc001usj.2_Missense_Mutation_p.R257Q|SLC46A3_uc001ush.2_Missense_Mutation_p.R257Q|SLC46A3_uc001usk.2_Missense_Mutation_p.R182Q	NM_181785	NP_861450	Q7Z3Q1	S46A3_HUMAN	solute carrier family 46, member 3 isoform a	257	Cytoplasmic (Potential).				transmembrane transport	integral to membrane				central_nervous_system(1)|skin(1)	2		Lung SC(185;0.0367)		all cancers(112;0.159)		GAGCAAAAATCGTCTCTTACC	0.338		NaN											0	0	0	0.047766	0	9	27									
DGKH	160851	broad.mit.edu	37	13	42623082	42623082	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr13:42623082C>G	uc001uyl.1	+	1	194	c.173C>G	c.(172-174)TCG>TGG	p.S58W	DGKH_uc010tfh.1_Missense_Mutation_p.S58W|DGKH_uc001uym.1_Missense_Mutation_p.S58W	NM_178009	NP_821077	Q86XP1	DGKH_HUMAN	diacylglycerol kinase, eta isoform 2	58					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation|protein oligomerization	endosome|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			ovary(2)	2		Lung NSC(96;1.02e-05)|Prostate(109;0.0168)|Lung SC(185;0.0262)|Breast(139;0.0709)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;5.88e-05)|GBM - Glioblastoma multiforme(144;0.000935)|BRCA - Breast invasive adenocarcinoma(63;0.109)		GTGTCTACCTCGGGGCAGATC	0.398		NaN											0	0	0	0.115264	0	2	6									
PCDH20	64881	broad.mit.edu	37	13	61987145	61987145	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr13:61987145C>T	uc001vid.3	-	2	1451	c.1087G>A	c.(1087-1089)GTT>ATT	p.V363I	PCDH20_uc010thj.1_Missense_Mutation_p.V363I	NM_022843	NP_073754	Q8N6Y1	PCD20_HUMAN	protocadherin 20	336	Cadherin 3.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|breast(1)|central_nervous_system(1)	6		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)		GCTTGTGGAACTTTCTGACTG	0.433		NaN											0	0	0	0.144211	0	31	76									
LMO7	4008	broad.mit.edu	37	13	76427499	76427499	+	Missense_Mutation	SNP	C	C	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr13:76427499C>A	uc001vjv.2	+	25	4697	c.3937C>A	c.(3937-3939)CAG>AAG	p.Q1313K	LMO7_uc010thv.1_Missense_Mutation_p.Q1264K|LMO7_uc010thw.1_Missense_Mutation_p.Q1190K	NM_015842	NP_056667	Q8WWI1	LMO7_HUMAN	LIM domain only 7 isoform 2	1598						cytoplasm|nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding			large_intestine(2)|ovary(1)|prostate(1)|skin(1)	5		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		TTCAGCTTCACAGTCAGGCTC	0.542		NaN											1	0	7.03913e-09	0.09319	8.16318e-09	11	37									
MYCBP2	23077	broad.mit.edu	37	13	77825302	77825302	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr13:77825302C>T	uc001vkf.2	-	16	2342	c.2251G>A	c.(2251-2253)GAC>AAC	p.D751N	MYCBP2_uc010aev.2_Missense_Mutation_p.D155N	NM_015057	NP_055872	O75592	MYCB2_HUMAN	MYC binding protein 2	751	Cys-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			ovary(4)|breast(4)|skin(3)|lung(2)|pancreas(1)	14		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		GGGACTCTGTCTGGCCGTCCA	0.468		NaN											0	0	0	0.0333	0	15	42									
OR11H12	440153	broad.mit.edu	37	14	19377844	19377844	+	Missense_Mutation	SNP	T	T	C			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr14:19377844T>C	uc010tkp.1	+	1	251	c.251T>C	c.(250-252)TTA>TCA	p.L84S		NM_001013354	NP_001013372	B2RN74	O11HC_HUMAN	olfactory receptor, family 11, subfamily H,	84	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TTCTCCTTTTTAGAGATATGG	0.418		NaN											0	0	0	0.139131	0	67	120									
DDHD1	80821	broad.mit.edu	37	14	53539349	53539349	+	Missense_Mutation	SNP	A	A	C			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr14:53539349A>C	uc001xai.2	-	6	1699	c.1469T>G	c.(1468-1470)ATA>AGA	p.I490R	DDHD1_uc001xaj.2_Missense_Mutation_p.I497R|DDHD1_uc001xah.2_Missense_Mutation_p.I490R|DDHD1_uc001xag.2_Missense_Mutation_p.I72R	NM_001160148	NP_001153620	Q8NEL9	DDHD1_HUMAN	DDHD domain containing 1 isoform c	490					lipid catabolic process	cytoplasm	hydrolase activity|metal ion binding			ovary(2)	2	Breast(41;0.037)					ATAATACATTATGTCCATTGC	0.338		NaN											0	0	0	0.0333	0	17	52									
SAMD4A	23034	broad.mit.edu	37	14	55203778	55203778	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr14:55203778G>C	uc001xbb.2	+	3	750	c.749G>C	c.(748-750)CGA>CCA	p.R250P	SAMD4A_uc001xbc.2_Intron	NM_015589	NP_056404	Q9UPU9	SMAG1_HUMAN	sterile alpha motif domain containing 4 isoform	251					positive regulation of translation	cell junction|cytoplasm|dendrite|synapse|synaptosome	translation repressor activity				0						CCTTTGAAACGATCTGTGTCC	0.502		NaN											0	0	0	0.139131	0	69	135									
EIF2B2	8892	broad.mit.edu	37	14	75469786	75469786	+	Silent	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr14:75469786C>T	uc001xrc.1	+	1	175	c.93C>T	c.(91-93)TCC>TCT	p.S31S		NM_014239	NP_055054	P49770	EI2BB_HUMAN	eukaryotic translation initiation factor 2B,	31					cellular response to stimulus|myelination|oligodendrocyte development|ovarian follicle development|regulation of translational initiation|response to glucose stimulus|response to heat|response to peptide hormone stimulus	cytosol|eukaryotic translation initiation factor 2B complex	ATP binding|GTP binding|protein binding|translation initiation factor activity			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(234;0.00661)		CGCGCAGCTCCGAGGAAATGG	0.667		NaN											0	0	0	0.043863	0	19	39									
C14orf148	122945	broad.mit.edu	37	14	77861083	77861083	+	Nonsense_Mutation	SNP	G	G	C			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr14:77861083G>C	uc001xtr.2	-	6	1118	c.971C>G	c.(970-972)TCA>TGA	p.S324*		NM_001113475	NP_001106946	Q6NXP6	CN148_HUMAN	hypothetical protein LOC122945 isoform 1	324					proline biosynthetic process		binding|pyrroline-5-carboxylate reductase activity				0			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0277)		AGGACTACTTGAGAGATGCTG	0.443		NaN											0	0	0	0.132662	0	14	60									
GALC	2581	broad.mit.edu	37	14	88411957	88411957	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr14:88411957C>T	uc001xvt.2	-	14	2009	c.1610G>A	c.(1609-1611)AGA>AAA	p.R537K	GALC_uc010tvw.1_RNA|GALC_uc010tvx.1_Missense_Mutation_p.R511K|GALC_uc010tvy.1_Missense_Mutation_p.R514K|GALC_uc010tvz.1_Missense_Mutation_p.R481K	NM_000153	NP_000144	P54803	GALC_HUMAN	galactosylceramidase isoform a precursor	537					carbohydrate metabolic process|galactosylceramide catabolic process	lysosome	cation binding|galactosylceramidase activity				0						TGTAATGGGTCTCTGGTTGAG	0.428		NaN											0	0	0	0.139131	0	45	93									
MOAP1	64112	broad.mit.edu	37	14	93649993	93649993	+	Missense_Mutation	SNP	C	C	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr14:93649993C>A	uc001ybj.2	-	3	965	c.595G>T	c.(595-597)GAT>TAT	p.D199Y	C14orf109_uc001ybk.3_5'Flank|C14orf109_uc010auo.2_5'Flank	NM_022151	NP_071434	Q96BY2	MOAP1_HUMAN	modulator of apoptosis 1	199					activation of caspase activity|apoptotic nuclear change	cytoplasm	protein homodimerization activity			skin(2)|ovary(1)	3		all_cancers(154;0.00528)|Acute lymphoblastic leukemia(33;0.0497)|all_epithelial(191;0.125)|all_neural(303;0.13)		Epithelial(152;0.178)|all cancers(159;0.2)|COAD - Colon adenocarcinoma(157;0.204)		ttctctacatctggcacctgc	0		NaN											1	0	1.5548e-18	0.108266	1.85155e-18	28	103									
PPP4R4	57718	broad.mit.edu	37	14	94732160	94732160	+	Missense_Mutation	SNP	C	C	G	rs147765941		TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr14:94732160C>G	uc001ycs.1	+	22	2468	c.2314C>G	c.(2314-2316)CGA>GGA	p.R772G		NM_058237	NP_478144	Q6NUP7	PP4R4_HUMAN	HEAT-like repeat-containing protein isoform 1	772						cytoplasm|protein serine/threonine phosphatase complex	protein binding			skin(3)|upper_aerodigestive_tract(1)	4						CAAACTGATTCGAAGCCAGTC	0.368		NaN											0	0	0	0.080935	0	12	111									
DICER1	23405	broad.mit.edu	37	14	95562205	95562205	+	Silent	SNP	G	G	A	rs145027662	byFrequency	TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr14:95562205G>A	uc001ydw.2	-	24	5234	c.5052C>T	c.(5050-5052)CTC>CTT	p.L1684L	DICER1_uc010avh.1_Silent_p.L582L|DICER1_uc001ydv.2_Silent_p.L1674L|DICER1_uc001ydx.2_Silent_p.L1684L|DICER1_uc001ydy.1_Silent_p.L536L	NM_030621	NP_085124	Q9UPY3	DICER_HUMAN	dicer1	1684	RNase III 2.				negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference	cytosol|RNA-induced silencing complex	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity			skin(2)|ovary(1)|pancreas(1)|lung(1)	5		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		TAAAAGCCTGGAGAAGGTAAG	0.393		NaN	Mis F|N			pleuropulmonary blastoma			DICER_1_syndrome_|Familial_Multinodular_Goiter_				0	0	0	0.045705	0	31	45									
C14orf68	283600	broad.mit.edu	37	14	100793638	100793638	+	Silent	SNP	C	C	T	rs147080547		TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr14:100793638C>T	uc001yhc.2	+	4	331	c.258C>T	c.(256-258)TAC>TAT	p.Y86Y	C14orf68_uc001yhd.2_Translation_Start_Site	NM_207117	NP_997000	Q6Q0C1	S2547_HUMAN	chromosome 14 open reading frame 68	86					transmembrane transport	integral to membrane|mitochondrial inner membrane	binding				0		Melanoma(154;0.152)				GGCTCCGGTACGGCAACCCTG	0.687		NaN											0	0	0	0.047766	0	7	122									
SPRED1	161742	broad.mit.edu	37	15	38643647	38643647	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr15:38643647G>A	uc001zka.3	+	7	1452	c.1117G>A	c.(1117-1119)GAG>AAG	p.E373K		NM_152594	NP_689807	Q7Z699	SPRE1_HUMAN	sprouty-related protein 1 with EVH-1 domain	373	SPR.				inactivation of MAPK activity|multicellular organismal development	caveola|nucleus	stem cell factor receptor binding			ovary(2)|lung(2)|skin(1)	5		all_cancers(109;4.88e-13)|all_epithelial(112;1.83e-11)|Lung NSC(122;2.21e-09)|all_lung(180;4.64e-08)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(113;2.41e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0244)		GCTCTGTGCAGAGAGCATGTT	0.423		NaN							Legius_syndrome				0	0	0	0.086207	0	42	104									
DISP2	85455	broad.mit.edu	37	15	40659556	40659556	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr15:40659556C>G	uc001zlk.1	+	8	1332	c.1243C>G	c.(1243-1245)CTG>GTG	p.L415V		NM_033510	NP_277045	A7MBM2	DISP2_HUMAN	dispatched B	415					smoothened signaling pathway	integral to membrane				ovary(2)	2		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.39e-06)|Colorectal(105;0.0114)|READ - Rectum adenocarcinoma(2;0.0649)|BRCA - Breast invasive adenocarcinoma(123;0.0798)|Lung(196;0.15)|LUAD - Lung adenocarcinoma(183;0.247)		CCTGCACTTTCTGCTTGACAG	0.587		NaN											0	0	0	0.139131	0	86	276									
ONECUT1	3175	broad.mit.edu	37	15	53081070	53081070	+	Missense_Mutation	SNP	T	T	C			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr15:53081070T>C	uc002aci.1	-	1	1140	c.1012A>G	c.(1012-1014)AGC>GGC	p.S338G		NM_004498	NP_004489	Q9UBC0	HNF6_HUMAN	one cut homeobox 1	338	CUT.				endocrine pancreas development	nucleus	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding				0				all cancers(107;0.0708)		TTGAGTTTGCTCCAGGGTTTG	0.652		NaN											0	0	0	0.062417	0	19	44									
ZNF280D	54816	broad.mit.edu	37	15	56950642	56950642	+	Silent	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr15:56950642C>T	uc002adu.2	-	17	2254	c.2037G>A	c.(2035-2037)AAG>AAA	p.K679K	ZNF280D_uc002adv.2_Silent_p.K666K|ZNF280D_uc010bfq.2_Silent_p.K679K|ZNF280D_uc002adw.1_Silent_p.K707K|ZNF280D_uc010bfp.2_RNA	NM_017661	NP_060131	Q6N043	Z280D_HUMAN	suppressor of hairy wing homolog 4 isoform 1	679					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)|ovary(1)|skin(1)	3				all cancers(107;0.0399)|GBM - Glioblastoma multiforme(80;0.0787)		CTGAATGCTTCTTAAAAATAC	0.229		NaN											0	0	0	0.02938	0	5	38									
FAM96A	84191	broad.mit.edu	37	15	64380955	64380955	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr15:64380955C>T	uc002amt.1	-	2	460	c.220G>A	c.(220-222)GAA>AAA	p.E74K	FAM96A_uc002amu.1_Missense_Mutation_p.E74K|FAM96A_uc010uin.1_Missense_Mutation_p.E74K	NM_032231	NP_115607	Q9H5X1	FA96A_HUMAN	family with sequence similarity 96, member A	74					chromosome segregation						0						TATTCTTCTTCATTTATCTCC	0.378		NaN											0	0	0	0.047766	0	8	45									
FAM96A	84191	broad.mit.edu	37	15	64381003	64381003	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr15:64381003C>T	uc002amt.1	-	2	412	c.172G>A	c.(172-174)GAA>AAA	p.E58K	FAM96A_uc002amu.1_Missense_Mutation_p.E58K|FAM96A_uc010uin.1_Missense_Mutation_p.E58K	NM_032231	NP_115607	Q9H5X1	FA96A_HUMAN	family with sequence similarity 96, member A	58					chromosome segregation						0						ACTTCCAGTTCTTCTAAAGTA	0.363		NaN											0	0	0	0.105934	0	11	59									
IQCH	64799	broad.mit.edu	37	15	67649729	67649729	+	Silent	SNP	G	G	C			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr15:67649729G>C	uc002aqo.1	+	7	731	c.684G>C	c.(682-684)GTG>GTC	p.V228V	IQCH_uc010ujv.1_Silent_p.V60V|IQCH_uc002aqn.1_Silent_p.V55V|IQCH_uc002aqq.1_5'UTR|IQCH_uc002aqp.1_5'UTR	NM_001031715	NP_001026885	Q86VS3	IQCH_HUMAN	IQ motif containing H isoform 1	228										skin(3)|ovary(1)	4				Colorectal(3;0.0856)		CAGCAGAAGTGAAGTTCTTTC	0.383		NaN											0	0	0	0.080935	0	10	44									
NOX5	79400	broad.mit.edu	37	15	69320560	69320560	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr15:69320560C>G	uc002ars.1	+	3	200	c.180C>G	c.(178-180)TTC>TTG	p.F60L	NOX5_uc002arp.1_Missense_Mutation_p.F42L|NOX5_uc002arq.1_Missense_Mutation_p.F42L|NOX5_uc010bid.1_Missense_Mutation_p.F53L|NOX5_uc002arr.1_Missense_Mutation_p.F60L|NOX5_uc010bie.1_5'UTR	NM_024505	NP_078781	Q96PH1	NOX5_HUMAN	NADPH oxidase, EF-hand calcium binding domain 5	60	Cytoplasmic (Potential).|N-terminal regulatory region; interacts with the C-terminal catalytic region in a calcium-dependent manner.|EF-hand 2.				angiogenesis|angiogenesis|cytokine secretion|cytokinesis|electron transport chain|endothelial cell proliferation|induction of apoptosis|positive regulation of reactive oxygen species metabolic process|regulation of fusion of sperm to egg plasma membrane|regulation of proton transport|superoxide anion generation	endoplasmic reticulum|endoplasmic reticulum|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|hydrogen ion channel activity|NADP binding|superoxide-generating NADPH oxidase activity			breast(1)|pancreas(1)	2						CACAGTCCTTCTTTGCAGAGC	0.577		NaN											0	0	0	0.050027	0	29	159									
ADAMTSL3	57188	broad.mit.edu	37	15	84657546	84657546	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr15:84657546G>A	uc002bjz.3	+	22	4044	c.3820G>A	c.(3820-3822)GAA>AAA	p.E1274K	ADAMTSL3_uc010bmt.1_Missense_Mutation_p.E1274K|ADAMTSL3_uc010bmu.1_Missense_Mutation_p.E1274K	NM_207517	NP_997400	P82987	ATL3_HUMAN	ADAMTS-like 3 precursor	1274	Ig-like C2-type 2.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			ovary(6)|central_nervous_system(5)|lung(5)|large_intestine(4)|breast(3)|skin(2)|kidney(1)|pancreas(1)	27			BRCA - Breast invasive adenocarcinoma(143;0.211)			TTCAGATGTGGAAAGTTCTTC	0.318		NaN											0	0	0	0.080935	0	9	64									
SEMA4B	10509	broad.mit.edu	37	15	90771388	90771388	+	Missense_Mutation	SNP	A	A	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr15:90771388A>T	uc002boy.2	+	15	2310	c.2027A>T	c.(2026-2028)GAG>GTG	p.E676V	SEMA4B_uc002boz.2_Missense_Mutation_p.E676V|SEMA4B_uc010uqd.1_Missense_Mutation_p.E514V|SEMA4B_uc002bpa.2_Missense_Mutation_p.E514V|SEMA4B_uc010bnv.1_Missense_Mutation_p.E314V	NM_020210	NP_064595			semaphorin 4B precursor											ovary(1)|breast(1)|kidney(1)	3	Melanoma(11;0.00551)|Lung NSC(78;0.0125)|all_lung(78;0.0272)		BRCA - Breast invasive adenocarcinoma(143;0.0107)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.217)			GAGGTGGTGGAGGACGGGGTG	0.622		NaN											0	0	0	0.069234	0	11	14									
CHD2	1106	broad.mit.edu	37	15	93467681	93467681	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr15:93467681G>A	uc002bsp.2	+	3	768	c.193G>A	c.(193-195)GAA>AAA	p.E65K	CHD2_uc002bsm.1_Missense_Mutation_p.E65K|CHD2_uc002bsn.2_Missense_Mutation_p.E65K|CHD2_uc002bso.1_Missense_Mutation_p.E65K|CHD2_uc010urb.1_Missense_Mutation_p.E78K	NM_001271	NP_001262	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	65	Ser-rich.				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)			GAGTCAGTCGGAATCTGAGAG	0.522		NaN											0	0	0	0.139131	0	55	111									
CHD2	1106	broad.mit.edu	37	15	93467687	93467687	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr15:93467687G>A	uc002bsp.2	+	3	774	c.199G>A	c.(199-201)GAG>AAG	p.E67K	CHD2_uc002bsm.1_Missense_Mutation_p.E67K|CHD2_uc002bsn.2_Missense_Mutation_p.E67K|CHD2_uc002bso.1_Missense_Mutation_p.E67K|CHD2_uc010urb.1_Missense_Mutation_p.E80K	NM_001271	NP_001262	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	67	Ser-rich.				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)			GTCGGAATCTGAGAGCGAATC	0.522		NaN											0	0	0	0.139131	0	63	106									
SPSB3	90864	broad.mit.edu	37	16	1828497	1828497	+	Silent	SNP	G	G	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr16:1828497G>A	uc002cmr.2	-	2	276	c.243C>T	c.(241-243)TTC>TTT	p.F81F	SPSB3_uc002cms.2_5'UTR|SPSB3_uc002cmt.2_5'UTR|SPSB3_uc002cmu.2_Silent_p.F81F|SPSB3_uc002cmv.2_5'UTR|SPSB3_uc010uvm.1_Silent_p.F136F	NM_080861	NP_543137	Q6PJ21	SPSB3_HUMAN	splA/ryanodine receptor domain and SOCS box	81					intracellular signal transduction						0						GGCTGCTACAGAAGGAGGCCT	0.697		NaN											0	0	0	0.080935	0	12	28									
ABCC1	4363	broad.mit.edu	37	16	16232288	16232288	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr16:16232288G>A	uc010bvi.2	+	30	4535	c.4360G>A	c.(4360-4362)GAT>AAT	p.D1454N	ABCC1_uc010bvj.2_Missense_Mutation_p.D1395N|ABCC1_uc010bvk.2_Missense_Mutation_p.D1398N|ABCC1_uc010bvl.2_Intron|ABCC1_uc010bvm.2_Missense_Mutation_p.D1339N|ABCC1_uc002del.3_Missense_Mutation_p.D1348N	NM_004996	NP_004987	P33527	MRP1_HUMAN	ATP-binding cassette, sub-family C, member 1	1454	ABC transporter 2.|Cytoplasmic.			DE->LL: Impairs leukotriene C4 transport.	hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug	Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus	ATP binding|ATPase activity, coupled to transmembrane movement of substances			ovary(4)	4					Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)	CCTTGTGTTGGATGAGGCCAC	0.602		NaN											0	0	0	0.069234	0	10	32									
SRCAP	10847	broad.mit.edu	37	16	30749639	30749639	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr16:30749639G>A	uc002dze.1	+	34	8663	c.8278G>A	c.(8278-8280)GAA>AAA	p.E2760K	SRCAP_uc002dzf.2_RNA|SRCAP_uc002dzg.1_Missense_Mutation_p.E2555K	NM_006662	NP_006653	Q6ZRS2	SRCAP_HUMAN	Snf2-related CBP activator protein	2760	Pro-rich.				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			ovary(3)|skin(1)	4			Colorectal(24;0.198)			TGTGGTAGAGGAAAAGGAACT	0.627		NaN											0	0	0	0.038147	0	7	71									
STX4	6810	broad.mit.edu	37	16	31051064	31051064	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr16:31051064C>G	uc002eal.2	+	10	1058	c.834C>G	c.(832-834)ATC>ATG	p.I278M	STX4_uc002eak.2_Missense_Mutation_p.I276M|STX4_uc002eam.2_Missense_Mutation_p.I200M|uc002ean.1_5'Flank	NM_004604	NP_004595	Q12846	STX4_HUMAN	syntaxin 4	278	Helical; Anchor for type IV membrane protein; (Potential).|Interaction with CENPF (By similarity).				intracellular protein transport|platelet activation|post-Golgi vesicle-mediated transport	basolateral plasma membrane|cell surface|cytosol|integral to membrane|plasma membrane enriched fraction|specific granule|vacuole	SNAP receptor activity				0						TGATTGCCATCTGTGTGTCCA	0.587		NaN											0	0	0	0.139131	0	49	185									
ITGAD	3681	broad.mit.edu	37	16	31422500	31422500	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr16:31422500G>A	uc002ebv.1	+	13	1509	c.1460G>A	c.(1459-1461)CGA>CAA	p.R487Q	ITGAD_uc010cap.1_Missense_Mutation_p.R487Q	NM_005353	NP_005344	Q13349	ITAD_HUMAN	integrin, alpha D precursor	487	Extracellular (Potential).|FG-GAP 5.				cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity			skin(1)	1						GAGCAGACCCGAGGGGGCCAG	0.642		NaN											0	0	0	0.099896	0	25	97									
HEATR3	55027	broad.mit.edu	37	16	50118104	50118104	+	Nonsense_Mutation	SNP	G	G	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr16:50118104G>T	uc002efw.2	+	9	1354	c.1192G>T	c.(1192-1194)GAG>TAG	p.E398*	HEATR3_uc002efx.2_Nonsense_Mutation_p.E312*	NM_182922	NP_891552	Q7Z4Q2	HEAT3_HUMAN	HEAT repeat containing 3	398							binding			ovary(1)|skin(1)	2						CGCATTTATGGAGAATTCCTT	0.502		NaN											1	0	5.50884e-06	0.09319	6.32232e-06	12	155									
BRD7	29117	broad.mit.edu	37	16	50354583	50354583	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr16:50354583C>G	uc002egf.1	-	15	1670	c.1603G>C	c.(1603-1605)GAC>CAC	p.D535H	BRD7_uc002ege.1_Missense_Mutation_p.D536H	NM_013263	NP_037395	Q9NPI1	BRD7_HUMAN	bromodomain containing 7	535					cell cycle|negative regulation of cell proliferation|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of histone acetylation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|nucleus	histone acetyl-lysine binding|p53 binding|transcription coactivator activity|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding				0		all_cancers(37;0.0127)				CCTTCAGAGTCAAAAACTTCA	0.433		NaN											0	0	0	0.0918	0	26	410									
IRX5	10265	broad.mit.edu	37	16	54966652	54966652	+	Silent	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr16:54966652C>T	uc002ehv.2	+	2	492	c.492C>T	c.(490-492)TTC>TTT	p.F164F	IRX5_uc010cca.1_Silent_p.F216F|IRX5_uc002ehw.2_Silent_p.F98F	NM_005853	NP_005844	P78411	IRX5_HUMAN	iroquois homeobox protein 5	164	Homeobox; TALE-type.				response to stimulus|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|vitamin D binding				0						CCACCTGGTTCGCCAACGCGC	0.597		NaN											0	0	0	0.116897	0	28	205									
CDH11	1009	broad.mit.edu	37	16	64981702	64981702	+	Missense_Mutation	SNP	G	G	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr16:64981702G>T	uc002eoi.2	-	13	2629	c.2195C>A	c.(2194-2196)CCC>CAC	p.P732H	CDH11_uc010cdn.2_RNA|CDH11_uc002eoj.2_3'UTR|CDH11_uc010vin.1_Missense_Mutation_p.P606H	NM_001797	NP_001788	P55287	CAD11_HUMAN	cadherin 11, type 2 preproprotein	732	Cytoplasmic (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development	integral to membrane|plasma membrane	calcium ion binding|protein binding			lung(10)|ovary(3)|skin(1)	14		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		AGGAGCCGTGGGGTCATTGTC	0.562		NaN	T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)			1	0	1.50598e-64	0.139131	1.81785e-64	151	79									
TERF2	7014	broad.mit.edu	37	16	69419321	69419321	+	Missense_Mutation	SNP	A	A	G			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr16:69419321A>G	uc002exd.2	-	2	447	c.322T>C	c.(322-324)TCG>CCG	p.S108P	TERF2_uc002exe.2_Missense_Mutation_p.S108P	NM_005652	NP_005643	Q15554	TERF2_HUMAN	telomeric repeat binding factor 2	108	TRFH dimerization.				age-dependent telomere shortening|cell cycle|cellular senescence|negative regulation of telomere maintenance via semi-conservative replication|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|regulation of transcription, DNA-dependent|telomeric loop formation	Golgi apparatus|nuclear telomere cap complex|nucleoplasm	double-stranded telomeric DNA binding|protein C-terminus binding|protein homodimerization activity			lung(1)	1		Ovarian(137;0.101)				TCAATCCGCGACAGACACTGC	0.488		NaN											0	0	0	0.139131	0	45	346									
HYDIN	54768	broad.mit.edu	37	16	70908274	70908274	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr16:70908274C>T	uc002ezr.2	-	64	11007	c.10879G>A	c.(10879-10881)GAA>AAA	p.E3627K		NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	hydrocephalus inducing isoform a	3628										ovary(1)|skin(1)	2		Ovarian(137;0.0654)				CTTATGTCTTCCTGGCTGGTG	0.507		NaN											0	0	0	0.076483	0	19	223									
KIAA0753	9851	broad.mit.edu	37	17	6526348	6526348	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr17:6526348G>C	uc002gde.3	-	6	1317	c.958C>G	c.(958-960)CAG>GAG	p.Q320E	KIAA0753_uc010vtd.1_5'Flank|KIAA0753_uc010clo.2_Missense_Mutation_p.Q21E|KIAA0753_uc010vte.1_Missense_Mutation_p.Q21E	NM_014804	NP_055619	Q2KHM9	K0753_HUMAN	hypothetical protein LOC9851	320						centrosome					0				COAD - Colon adenocarcinoma(228;0.157)		TCAGTAAACTGAGTGACAAAC	0.498		NaN											0	0	0	0.105934	0	13	35									
TP53	7157	broad.mit.edu	37	17	7577539	7577539	+	Missense_Mutation	SNP	G	G	A	rs121912651		TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq;WGS			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr17:7577539G>A	uc002gim.2	-	7	936	c.742C>T	c.(742-744)CGG>TGG	p.R248W	TP53_uc002gig.1_Missense_Mutation_p.R248W|TP53_uc002gih.2_Missense_Mutation_p.R248W|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R116W|TP53_uc010cng.1_Missense_Mutation_p.R116W|TP53_uc002gii.1_Missense_Mutation_p.R116W|TP53_uc010cnh.1_Missense_Mutation_p.R248W|TP53_uc010cni.1_Missense_Mutation_p.R248W|TP53_uc002gij.2_Missense_Mutation_p.R248W|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.R155W|TP53_uc002gio.2_Missense_Mutation_p.R116W	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	248	|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.|Interaction with AXIN1 (By similarity).		R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|NR -> IP (in a sporadic cancer; 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.R248Q(516)|p.R248W(443)|p.R248L(63)|p.R248P(12)|p.R248G(11)|p.R248R(10)|p.0?(7)|p.N247_R248delNR(2)|p.N247_R248>KW(2)|p.M246_P250delMNRRP(2)|p.R248fs*97(2)|p.R248_P250delRRP(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(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)		ATGGGCCTCCGGTTCATGCCG	0.577	R248W(CAS1_CENTRAL_NERVOUS_SYSTEM)|R248W(COLO680N_OESOPHAGUS)|R248W(SW837_LARGE_INTESTINE)|R248W(KO52_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(RD_SOFT_TISSUE)|R248W(VCAP_PROSTATE)|R248W(JIMT1_BREAST)|R248W(GCT_SOFT_TISSUE)|R248W(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(786O_KIDNEY)|R248W(COLO320_LARGE_INTESTINE)|R248W(LXF289_LUNG)|R248W(LUDLU1_LUNG)|R248W(MIAPACA2_PANCREAS)|R248W(HCC2157_BREAST)	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)			0	0	0	0.117977	0	39	25									
DNAH2	146754	broad.mit.edu	37	17	7680153	7680153	+	Silent	SNP	G	G	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr17:7680153G>A	uc002giu.1	+	31	5018	c.5004G>A	c.(5002-5004)CTG>CTA	p.L1668L		NM_020877	NP_065928	Q9P225	DYH2_HUMAN	dynein heavy chain domain 3	1668	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(6)|skin(6)|central_nervous_system(1)	13		all_cancers(10;4.66e-07)|Prostate(122;0.081)				AGTGCCTGCTGACAGCGAAGG	0.448		NaN											0	0	0	0.038395	0	14	6									
DNAH9	1770	broad.mit.edu	37	17	11700983	11700983	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr17:11700983G>A	uc002gne.2	+	43	8361	c.8293G>A	c.(8293-8295)GAG>AAG	p.E2765K	DNAH9_uc010coo.2_Missense_Mutation_p.E2059K	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9 isoform 2	2765					cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1)	20		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		TGGTATTGGGGAGCCCAAATA	0.498		NaN											0	0	0	0.058154	0	10	33									
KIAA0100	9703	broad.mit.edu	37	17	26966617	26966617	+	Silent	SNP	G	G	C	rs147060997	by1000genomes	TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr17:26966617G>C	uc002hbu.2	-	10	1158	c.1059C>G	c.(1057-1059)CTC>CTG	p.L353L	KIAA0100_uc002hbv.2_Silent_p.L353L|KIAA0100_uc010crr.1_3'UTR	NM_014680	NP_055495	Q14667	K0100_HUMAN	hypothetical protein LOC9703 precursor	353						extracellular region				ovary(2)|breast(1)|skin(1)	4	Lung NSC(42;0.00431)					TGAGGGAGTTGAGGCAGACAA	0.473		NaN											0	0	0	0.11911	0	14	147									
PHF12	57649	broad.mit.edu	37	17	27235835	27235835	+	Silent	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr17:27235835C>T	uc002hdg.1	-	12	2954	c.2424G>A	c.(2422-2424)GTG>GTA	p.V808V	PHF12_uc010wbb.1_Silent_p.V790V	NM_001033561	NP_001028733	Q96QT6	PHF12_HUMAN	PHD finger protein 12 isoform 1	808					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	protein binding|zinc ion binding			ovary(1)	1	all_cancers(5;1.95e-14)|all_epithelial(6;5e-18)|Lung NSC(42;0.01)		Epithelial(11;1.64e-05)|all cancers(11;7.47e-05)|BRCA - Breast invasive adenocarcinoma(11;9.79e-05)			AGCACATGTTCACAGCTCCTC	0.507		NaN											0	0	0	0.058154	0	8	64									
PIPOX	51268	broad.mit.edu	37	17	27379941	27379941	+	Silent	SNP	G	G	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr17:27379941G>A	uc002hdr.1	+	3	593	c.267G>A	c.(265-267)CAG>CAA	p.Q89Q		NM_016518	NP_057602	Q9P0Z9	SOX_HUMAN	pipecolic acid oxidase	89					tetrahydrofolate metabolic process	peroxisome	L-pipecolate oxidase activity|sarcosine oxidase activity				0	Lung NSC(42;0.015)		Epithelial(11;9.87e-06)|BRCA - Breast invasive adenocarcinoma(11;3.92e-05)|all cancers(11;5.59e-05)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)		Glycine(DB00145)	TTAACAGGCAGACTGGATTAC	0.323		NaN											0	0	0	0.059317	0	35	21									
ACACA	31	broad.mit.edu	37	17	35479509	35479509	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr17:35479509G>A	uc002hnm.2	-	49	6162	c.5971C>T	c.(5971-5973)CGA>TGA	p.R1991*	ACACA_uc002hnk.2_Nonsense_Mutation_p.R1913*|ACACA_uc002hnl.2_Nonsense_Mutation_p.R1933*|ACACA_uc002hnn.2_Nonsense_Mutation_p.R1991*|ACACA_uc002hno.2_Nonsense_Mutation_p.R2028*|ACACA_uc010cuy.2_Nonsense_Mutation_p.R636*|ACACA_uc010wdb.1_Nonsense_Mutation_p.R29*|ACACA_uc010wdc.1_Nonsense_Mutation_p.R117*	NM_198836	NP_942133	Q13085	ACACA_HUMAN	acetyl-Coenzyme A carboxylase alpha isoform 2	1991	Carboxyltransferase.				acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			large_intestine(1)|ovary(1)	2		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	TCTACTGTTCGGGTTTCTACA	0.463		NaN											0	0	0	0.099896	0	24	117									
KRT39	390792	broad.mit.edu	37	17	39120762	39120762	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr17:39120762C>T	uc002hvo.1	-	2	523	c.487G>A	c.(487-489)GAG>AAG	p.E163K	KRT39_uc010wfm.1_5'UTR	NM_213656	NP_998821	Q6A163	K1C39_HUMAN	type I hair keratin KA35	163	Rod.|Coil 1B.					intermediate filament	structural molecule activity				0		Breast(137;0.00043)|Ovarian(249;0.15)				CTGGAATTCTCGGCCTTGGTA	0.443		NaN											0	0	0	0.069456	0	38	131									
KRTAP9-4	85280	broad.mit.edu	37	17	39406130	39406130	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr17:39406130G>A	uc002hwi.2	+	1	192	c.158G>A	c.(157-159)CGC>CAC	p.R53H	KRTAP9-9_uc010wfq.1_Intron	NM_033191	NP_149461	Q9BYQ2	KRA94_HUMAN	keratin associated protein 9-4	53	6.|15 X 5 AA repeats of C-C-[RQVGE]-[SPTN]- [TASPF].					keratin filament					0		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000397)			CCTTGCTGCCGCCCAACTTGC	0.642		NaN											0	0	0	0.038147	0	7	121									
FKBP10	60681	broad.mit.edu	37	17	39973408	39973408	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr17:39973408G>A	uc002hxv.2	+	2	669	c.344G>A	c.(343-345)CGA>CAA	p.R115Q	FKBP10_uc002hxw.1_5'Flank	NM_021939	NP_068758	Q96AY3	FKB10_HUMAN	FK506 binding protein 10 precursor	115	PPIase FKBP-type 1.		Missing (in OI6).		protein folding	endoplasmic reticulum lumen|membrane	calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity			ovary(1)	1		Breast(137;0.00122)		BRCA - Breast invasive adenocarcinoma(366;0.148)		AACGAGCGGCGACGCCTCATT	0.647		NaN											0	0	0	0.132662	0	16	68									
HOXB4	3214	broad.mit.edu	37	17	46654260	46654260	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr17:46654260C>G	uc002inp.2	-	2	642	c.580G>C	c.(580-582)GAG>CAG	p.E194Q	HOXB3_uc010wlm.1_Intron|HOXB3_uc010dbf.2_Intron|HOXB3_uc010dbg.2_Intron|HOXB3_uc002ino.2_5'Flank|HOXB3_uc010wlk.1_5'Flank|HOXB3_uc010wll.1_Intron	NM_024015	NP_076920	P17483	HXB4_HUMAN	homeobox B4	194	Homeobox.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1						TGGGCGATCTCCACCCTCCGG	0.602		NaN											0	0	0	0.064281	0	35	136									
HOXB8	3218	broad.mit.edu	37	17	46691841	46691841	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr17:46691841C>T	uc002inw.2	-	1	461	c.226G>A	c.(226-228)GTG>ATG	p.V76M		NM_024016	NP_076921	P17481	HXB8_HUMAN	homeobox B8	76						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0						TGGCACGCCACGGCGCACGGG	0.662		NaN											0	0	0	0.11911	0	13	46									
EPN3	55040	broad.mit.edu	37	17	48618226	48618226	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr17:48618226C>T	uc002ira.3	+	7	1487	c.1052C>T	c.(1051-1053)TCA>TTA	p.S351L	SPATA20_uc002irc.2_5'Flank|EPN3_uc010wms.1_Missense_Mutation_p.S379L|EPN3_uc010wmt.1_RNA|EPN3_uc010wmu.1_Missense_Mutation_p.S324L	NM_017957	NP_060427	Q9H201	EPN3_HUMAN	epsin 3	351	5 X 3 AA repeats of [DE]-P-W.					clathrin-coated vesicle|nucleus|perinuclear region of cytoplasm	lipid binding			ovary(1)	1	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;2.88e-09)			CCGATCCCCTCAGGAACCGTC	0.632		NaN											0	0	0	0.09319	0	12	43									
WFIKKN2	124857	broad.mit.edu	37	17	48918001	48918001	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr17:48918001G>C	uc002isv.3	+	2	2046	c.1352G>C	c.(1351-1353)CGG>CCG	p.R451P	WFIKKN2_uc010dbu.2_Missense_Mutation_p.R358P	NM_175575	NP_783165	Q8TEU8	WFKN2_HUMAN	WFIKKN2 protein	451	NTR.					extracellular region	metalloendopeptidase inhibitor activity|protein binding|serine-type endopeptidase inhibitor activity			ovary(2)|skin(1)	3			BRCA - Breast invasive adenocarcinoma(22;1.09e-08)			TGCAAGCCTCGGCAGAAGCTC	0.647		NaN											0	0	0	0.021553	0	6	81									
CACNG4	27092	broad.mit.edu	37	17	64961035	64961035	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr17:64961035G>C	uc002jft.1	+	1	23	c.8G>C	c.(7-9)CGA>CCA	p.R3P		NM_014405	NP_055220	Q9UBN1	CCG4_HUMAN	voltage-dependent calcium channel gamma-4	3	Cytoplasmic (Potential).				membrane depolarization|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane	voltage-gated calcium channel activity			central_nervous_system(1)	1	all_cancers(12;9.86e-11)		BRCA - Breast invasive adenocarcinoma(6;1.35e-07)			ACCATGGTGCGATGCGACCGC	0.453		NaN											0	0	0	0.014758	0	5	8									
AFMID	125061	broad.mit.edu	37	17	76187059	76187059	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr17:76187059G>C	uc002jva.3	+	2	87	c.72G>C	c.(70-72)GAG>GAC	p.E24D	AFMID_uc002juy.3_RNA|AFMID_uc010dhj.2_Missense_Mutation_p.E24D|AFMID_uc002jvb.3_Missense_Mutation_p.E24D|AFMID_uc002juz.3_Missense_Mutation_p.E24D	NM_001010982	NP_001010982	Q63HM1	AFMID_HUMAN	arylformamidase isoform 1	24						cytosol|nucleus	arylformamidase activity			large_intestine(1)|pancreas(1)	2			BRCA - Breast invasive adenocarcinoma(99;0.00269)|OV - Ovarian serous cystadenocarcinoma(97;0.134)			AGGAGCTGGAGAATCAGTACT	0.572		NaN											0	0	0	0.080935	0	11	20									
DNAH17	8632	broad.mit.edu	37	17	76435210	76435210	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr17:76435210C>T	uc010dhp.1	-	18	2989	c.2767G>A	c.(2767-2769)GAC>AAC	p.D923N	DNAH17_uc002jvq.2_Missense_Mutation_p.D208N|DNAH17_uc002jvs.2_RNA					SubName: Full=DNAH17 variant protein; Flags: Fragment;											ovary(6)|breast(2)|skin(1)	9			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			GCAGCCACGTCCAGGGCGTTC	0.552		NaN											0	0	0	0.11911	0	14	45									
PYCR1	5831	broad.mit.edu	37	17	79891091	79891091	+	Nonstop_Mutation	SNP	C	C	G			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr17:79891091C>G	uc002kcr.1	-	7	1237	c.959G>C	c.(958-960)TGA>TCA	p.*320S	PYCR1_uc002kcq.1_3'UTR|PYCR1_uc002kcp.2_Intron|PYCR1_uc002kcs.1_3'UTR|PYCR1_uc010wvd.1_Nonstop_Mutation_p.*347S|PYCR1_uc002kct.1_Nonstop_Mutation_p.*320S|PYCR1_uc002kcu.1_Nonstop_Mutation_p.*289S	NM_006907	NP_008838	P32322	P5CR1_HUMAN	pyrroline-5-carboxylate reductase 1 isoform 1	320					cellular response to oxidative stress|proline biosynthetic process	mitochondrial matrix	binding|pyrroline-5-carboxylate reductase activity				0	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.0165)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)		L-Proline(DB00172)|NADH(DB00157)	CAGGACGTGTCAATCCTTGCC	0.622		NaN											0	0	0	0.074837	0	32	48									
RALBP1	10928	broad.mit.edu	37	18	9535846	9535846	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr18:9535846G>C	uc002kob.2	+	10	2102	c.1879G>C	c.(1879-1881)GAG>CAG	p.E627Q	RALBP1_uc002koc.2_Missense_Mutation_p.E627Q	NM_006788	NP_006779	Q15311	RBP1_HUMAN	ralA binding protein 1	627					chemotaxis|positive regulation of Cdc42 GTPase activity|small GTPase mediated signal transduction|transport	cytosol|membrane	ATPase activity, coupled to movement of substances|Rac GTPase activator activity|Rac GTPase binding|Ral GTPase binding			central_nervous_system(1)	1						CGGCGTCCTTGAGCCAAAAGC	0.657		NaN											0	0	0	0.014758	0	4	9									
FAM59A	64762	broad.mit.edu	37	18	29867522	29867522	+	Silent	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr18:29867522C>T	uc002kxl.2	-	4	1094	c.1038G>A	c.(1036-1038)GTG>GTA	p.V346V	FAM59A_uc002kxk.1_Silent_p.V346V	NM_022751	NP_073588	Q9H706	FA59A_HUMAN	family with sequence similarity 59, member A	346										ovary(1)|skin(1)	2						AGTCGGTTTTCACATCACGGA	0.557		NaN											0	0	0	0.076483	0	24	109									
ASXL3	80816	broad.mit.edu	37	18	31318552	31318552	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr18:31318552C>G	uc010dmg.1	+	11	1239	c.1184C>G	c.(1183-1185)TCT>TGT	p.S395C	ASXL3_uc002kxq.2_Missense_Mutation_p.S102C	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3	395					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			ovary(2)|pancreas(1)	3						CTTCCAGTTTCTGCACAGACA	0.488		NaN											0	0	0	0.115264	0	3	39									
SLC39A6	25800	broad.mit.edu	37	18	33689640	33689640	+	Silent	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr18:33689640C>T	uc010dmy.2	-	10	2474	c.2184G>A	c.(2182-2184)CAG>CAA	p.Q728Q		NM_012319	NP_036451	Q13433	S39A6_HUMAN	solute carrier family 39 (zinc transporter),	728	Helical; Name=6; (Potential).					integral to membrane|lamellipodium membrane	zinc ion transmembrane transporter activity			ovary(1)|pancreas(1)	2						TCCCAGCATTCTGTAAAAAGA	0.343		NaN											0	0	0	0.059317	0	32	166									
STARD6	147323	broad.mit.edu	37	18	51851180	51851180	+	Nonsense_Mutation	SNP	G	G	C			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr18:51851180G>C	uc010xdt.1	-	6	545	c.545C>G	c.(544-546)TCA>TGA	p.S182*		NM_139171	NP_631910	P59095	STAR6_HUMAN	START domain containing protein 6	182	START.				lipid transport		lipid binding			ovary(1)	1				Colorectal(16;0.021)|READ - Rectum adenocarcinoma(59;0.188)		TTCAATTATTGATGGGGACAA	0.358		NaN											0	0	0	0.047766	0	8	41									
CSNK1G2	1455	broad.mit.edu	37	19	1978449	1978449	+	Silent	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr19:1978449C>T	uc002lul.3	+	5	760	c.237C>T	c.(235-237)ATC>ATT	p.I79I	CSNK1G2_uc010dsu.2_Silent_p.I31I	NM_001319	NP_001310	P78368	KC1G2_HUMAN	casein kinase 1, gamma 2	79	Protein kinase.				sphingolipid metabolic process|Wnt receptor signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity			stomach(1)	1		Ovarian(11;2.11e-07)|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)		AGGAGCCGATCAAGTCCCGGG	0.597		NaN											0	0	0	0.009096	0	4	13									
SH2D3A	10045	broad.mit.edu	37	19	6752630	6752630	+	Missense_Mutation	SNP	A	A	G			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr19:6752630A>G	uc002mft.2	-	10	1899	c.1705T>C	c.(1705-1707)TCG>CCG	p.S569P	SH2D3A_uc010xjg.1_Missense_Mutation_p.S476P	NM_005490	NP_005481	Q9BRG2	SH23A_HUMAN	SH2 domain containing 3A	569					JNK cascade|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			breast(2)	2						AGGCGCTGCGACAGGACGCCG	0.667		NaN											0	0	0	0.115264	0	2	4									
TIMM44	10469	broad.mit.edu	37	19	7992973	7992973	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr19:7992973C>T	uc002miz.2	-	11	1119	c.1117G>A	c.(1117-1119)GAC>AAC	p.D373N	TIMM44_uc002mja.2_Missense_Mutation_p.D113N|TIMM44_uc010dvx.1_RNA|CTXN1_uc002miy.3_5'Flank	NM_006351	NP_006342	O43615	TIM44_HUMAN	translocase of inner mitochondrial membrane 44	373					protein targeting to mitochondrion	mitochondrial inner membrane presequence translocase complex|mitochondrial matrix	ATP binding|P-P-bond-hydrolysis-driven protein transmembrane transporter activity			ovary(1)	1						TCGACGTTGTCAATGTCTAGG	0.637		NaN											0	0	0	0.02938	0	6	26									
ACTL9	284382	broad.mit.edu	37	19	8808334	8808334	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr19:8808334C>T	uc002mkl.2	-	1	839	c.718G>A	c.(718-720)GGC>AGC	p.G240S		NM_178525	NP_848620	Q8TC94	ACTL9_HUMAN	actin-like 9	240						cytoplasm|cytoskeleton				large_intestine(2)|pancreas(1)	3						AGGGGCAGGCCGGCCTGGAGC	0.657		NaN											0	0	0	0.11911	0	14	45									
MUC16	94025	broad.mit.edu	37	19	9083641	9083641	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr19:9083641G>C	uc002mkp.2	-	1	8378	c.8174C>G	c.(8173-8175)TCT>TGT	p.S2725C		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	2725	Ser-rich.|Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						GGAAGTGGAAGAAGGATGGAG	0.468		NaN											0	0	0	0.134883	0	29	119									
DHPS	1725	broad.mit.edu	37	19	12790678	12790678	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr19:12790678G>A	uc002muh.1	-	3	528	c.431C>T	c.(430-432)GCG>GTG	p.A144V	DHPS_uc002muf.1_Missense_Mutation_p.A21V|DHPS_uc002mug.1_Missense_Mutation_p.A102V|DHPS_uc002mui.1_Missense_Mutation_p.A144V|DHPS_uc002muj.1_Missense_Mutation_p.A144V|DHPS_uc002muk.1_RNA|DHPS_uc010xmn.1_RNA	NM_001930	NP_001921	P49366	DHYS_HUMAN	deoxyhypusine synthase isoform a	144					peptidyl-lysine modification to hypusine|positive regulation of cell proliferation|post-translational protein modification|spermidine catabolic process to deoxyhypusine, using deoxyhypusine synthase|translation	cytosol	deoxyhypusine synthase activity|protein binding			central_nervous_system(1)	1					Sulfadoxine(DB01299)	GTATGTGGGCGCCAGGCACTT	0.597		NaN											0	0	0	0.144211	0	32	62									
MAST1	22983	broad.mit.edu	37	19	12954349	12954349	+	Silent	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr19:12954349C>T	uc002mvm.2	+	4	383	c.255C>T	c.(253-255)GAC>GAT	p.D85D	MAST1_uc002mvk.2_Silent_p.D81D|MAST1_uc002mvl.2_Intron	NM_014975	NP_055790	Q9Y2H9	MAST1_HUMAN	microtubule associated serine/threonine kinase	85					cytoskeleton organization|intracellular protein kinase cascade	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			ovary(3)|lung(2)|large_intestine(1)|skin(1)	7						CCAGGGCGGACGGACGCCGGT	0.667		NaN											0	0	0	0.038147	0	6	62									
CD97	976	broad.mit.edu	37	19	14517528	14517528	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr19:14517528G>C	uc002myl.2	+	16	2188	c.2065G>C	c.(2065-2067)GAG>CAG	p.E689Q	CD97_uc002mym.2_Missense_Mutation_p.E640Q|CD97_uc002myn.2_Missense_Mutation_p.E596Q	NM_078481	NP_510966	P48960	CD97_HUMAN	CD97 antigen isoform 1 precursor	689	Extracellular (Potential).				cell adhesion|cell-cell signaling|cellular component movement|immune response|inflammatory response|neuropeptide signaling pathway	extracellular space|integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			ovary(3)|breast(1)	4						GTTGGACTTTGAGCAGGGCTT	0.622		NaN									OREG0025312	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.069456	0	35	191									
EPS15L1	58513	broad.mit.edu	37	19	16552747	16552747	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr19:16552747G>A	uc002ndz.1	-	3	127	c.121C>T	c.(121-123)CTT>TTT	p.L41F	EPS15L1_uc002ndx.2_Missense_Mutation_p.L41F|EPS15L1_uc002ndy.2_RNA|EPS15L1_uc010xpf.1_5'UTR|EPS15L1_uc002nea.1_Missense_Mutation_p.L41F|EPS15L1_uc010eah.1_Missense_Mutation_p.L41F|EPS15L1_uc002nec.1_Missense_Mutation_p.L41F	NM_021235	NP_067058	Q9UBC2	EP15R_HUMAN	epidermal growth factor receptor pathway	41	EH 1.				endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	coated pit|nucleus|plasma membrane	calcium ion binding			ovary(3)|skin(2)	5						TTTAGAAAAAGCGCAGCTTCA	0.517		NaN									OREG0025335	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.054565	0	32	160									
USHBP1	83878	broad.mit.edu	37	19	17373412	17373412	+	Silent	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr19:17373412C>T	uc002nfs.1	-	4	704	c.591G>A	c.(589-591)ACG>ACA	p.T197T	USHBP1_uc002nft.1_RNA|USHBP1_uc010xpk.1_Silent_p.T133T|USHBP1_uc010eam.1_Silent_p.T125T	NM_031941	NP_114147	Q8N6Y0	USBP1_HUMAN	Usher syndrome 1C binding protein 1	197	Potential.						PDZ domain binding			ovary(1)	1						GGGAGGCCTGCGTGCGGACCA	0.657		NaN											0	0	0	0.11126	0	42	58									
SLC5A5	6528	broad.mit.edu	37	19	17983432	17983432	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr19:17983432G>A	uc002nhr.3	+	1	651	c.304G>A	c.(304-306)GCC>ACC	p.A102T		NM_000453	NP_000444	Q92911	SC5A5_HUMAN	solute carrier family 5 (sodium iodide	102	Helical; (Potential).		A -> P.		cellular nitrogen compound metabolic process|cellular response to cAMP|cellular response to gonadotropin stimulus|hormone biosynthetic process	integral to membrane|nucleus|plasma membrane	iodide transmembrane transporter activity|sodium:iodide symporter activity			skin(2)|ovary(1)|central_nervous_system(1)	4						GGTCCTCACCGCCCTGCTCTT	0.662		NaN											0	0	0	0.02938	0	5	72									
SLC5A5	6528	broad.mit.edu	37	19	17983483	17983483	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr19:17983483G>A	uc002nhr.3	+	1	702	c.355G>A	c.(355-357)GAG>AAG	p.E119K		NM_000453	NP_000444	Q92911	SC5A5_HUMAN	solute carrier family 5 (sodium iodide	119	Cytoplasmic (Potential).				cellular nitrogen compound metabolic process|cellular response to cAMP|cellular response to gonadotropin stimulus|hormone biosynthetic process	integral to membrane|nucleus|plasma membrane	iodide transmembrane transporter activity|sodium:iodide symporter activity			skin(2)|ovary(1)|central_nervous_system(1)	4						CAGCACCTACGAGGTACCGGA	0.667		NaN											0	0	0	0.02938	0	6	52									
NUDT19	390916	broad.mit.edu	37	19	33202726	33202726	+	Nonsense_Mutation	SNP	G	G	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr19:33202726G>T	uc010edf.2	+	3	991	c.991G>T	c.(991-993)GAA>TAA	p.E331*		NM_001105570	NP_001099040	A8MXV4	NUD19_HUMAN	nudix (nucleoside diphosphate linked moiety	331						mitochondrion|peroxisome	hydrolase activity|metal ion binding				0	Esophageal squamous(110;0.137)					AAAGACTGAGGAAATCATGAA	0.348		NaN											1	0	1.58986e-06	0.069234	1.82938e-06	11	60									
ZNF30	90075	broad.mit.edu	37	19	35434793	35434793	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr19:35434793G>A	uc010edp.1	+	5	1301	c.923G>A	c.(922-924)AGA>AAA	p.R308K	ZNF30_uc002nxf.2_Missense_Mutation_p.R227K|ZNF30_uc010edq.1_Missense_Mutation_p.R309K|ZNF30_uc010edr.1_Missense_Mutation_p.R309K	NM_194325	NP_919306	P17039	ZNF30_HUMAN	zinc finger protein 30 isoform b	308	C2H2-type 7.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|central_nervous_system(1)	2	all_lung(56;8.38e-08)|Lung NSC(56;1.31e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)	GBM - Glioblastoma multiforme(1328;0.0265)		AAGCATCAGAGAATTCATACT	0.448		NaN											0	0	0	0.049695	0	19	97									
RYR1	6261	broad.mit.edu	37	19	38966027	38966027	+	Silent	SNP	C	C	G			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr19:38966027C>G	uc002oit.2	+	29	4360	c.4230C>G	c.(4228-4230)CTC>CTG	p.L1410L	RYR1_uc002oiu.2_Silent_p.L1410L	NM_000540	NP_000531	P21817	RYR1_HUMAN	skeletal muscle ryanodine receptor isoform 1	1410	Cytoplasmic.|B30.2/SPRY 3.|6 X approximate repeats.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1)	12	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	TGCCCCGACTCCCTCACGACG	0.622		NaN											0	0	0	0.009096	0	4	34									
DLL3	10683	broad.mit.edu	37	19	39995950	39995950	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr19:39995950G>C	uc002olx.2	+	6	1010	c.952G>C	c.(952-954)GAT>CAT	p.D318H	DLL3_uc010egq.2_Missense_Mutation_p.D318H|DLL3_uc002olw.2_Missense_Mutation_p.D318H	NM_016941	NP_058637	Q9NYJ7	DLL3_HUMAN	delta-like 3 protein isoform 1 precursor	318	EGF-like 3.|Extracellular (Potential).				Notch signaling pathway|skeletal system development	integral to membrane	Notch binding			central_nervous_system(2)|breast(1)	3	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)			GACATGTGCAGATGGACCCTG	0.617		NaN											0	0	0	0.139131	0	45	104									
ADCK4	79934	broad.mit.edu	37	19	41206059	41206059	+	Silent	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr19:41206059C>T	uc002oor.2	-	12	1358	c.1056G>A	c.(1054-1056)ACG>ACA	p.T352T	ADCK4_uc002oop.1_Silent_p.T29T|ADCK4_uc002ooq.1_Silent_p.T311T	NM_024876	NP_079152	Q96D53	ADCK4_HUMAN	aarF domain containing kinase 4 isoform a	352	Protein kinase.					integral to membrane	protein serine/threonine kinase activity				0			Lung(22;9.49e-05)|LUSC - Lung squamous cell carcinoma(20;0.000219)			GCAGACACAGCGTCAGGAGCT	0.557		NaN											0	0	0	0.055883	0	21	24									
CYP2A6	1548	broad.mit.edu	37	19	41354576	41354576	+	Nonsense_Mutation	SNP	C	C	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr19:41354576C>A	uc002opl.3	-	3	457	c.436G>T	c.(436-438)GAG>TAG	p.E146*	CYP2A6_uc010ehe.1_5'UTR|CYP2A6_uc010ehf.1_RNA	NM_000762	NP_000753	P11509	CP2A6_HUMAN	cytochrome P450, family 2, subfamily A,	146					coumarin catabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|enzyme binding|heme binding			ovary(2)	2			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)		Chlorzoxazone(DB00356)|Diethylstilbestrol(DB00255)|Estradiol(DB00783)|Ethinyl Estradiol(DB00977)|Formoterol(DB00983)|Halothane(DB01159)|Letrozole(DB01006)|Methoxsalen(DB00553)|Metyrapone(DB01011)|Nicotine(DB00184)|Pilocarpine(DB01085)|Tolbutamide(DB01124)|Tranylcypromine(DB00752)	ATGCGCTCCTCGATGCCTCGC	0.692		NaN											1	0	4.7546e-09	0.146539	5.52832e-09	15	64									
ZFP112	7771	broad.mit.edu	37	19	44832455	44832455	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr19:44832455G>C	uc010ejj.2	-	5	1986	c.1873C>G	c.(1873-1875)CAA>GAA	p.Q625E	ZFP112_uc002ozc.3_Missense_Mutation_p.Q619E|ZFP112_uc010xwy.1_Missense_Mutation_p.Q642E|ZFP112_uc010xwz.1_Missense_Mutation_p.Q624E	NM_001083335	NP_001076804	Q9UJU3	ZF112_HUMAN	zinc finger protein 228 isoform 1	625	C2H2-type 8.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(3)|skin(2)	5						TGATGGCCTTGAAGGTGTGAA	0.458		NaN											0	0	0	0.0918	0	25	171									
ZNF229	7772	broad.mit.edu	37	19	44936420	44936420	+	Nonsense_Mutation	SNP	G	G	C			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr19:44936420G>C	uc002oze.1	-	5	649	c.215C>G	c.(214-216)TCA>TGA	p.S72*	ZNF229_uc010ejk.1_5'UTR|ZNF229_uc010ejl.1_Nonsense_Mutation_p.S72*	NM_014518	NP_055333	Q9UJW7	ZN229_HUMAN	zinc finger protein 229	72	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(2)|ovary(1)|pancreas(1)	4		Prostate(69;0.0352)				CTCACCCACTGAGAGTAGGTT	0.468		NaN											0	0	0	0.083992	0	22	144									
FKRP	79147	broad.mit.edu	37	19	47259808	47259808	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr19:47259808C>G	uc002pfn.2	+	4	1398	c.1101C>G	c.(1099-1101)ATC>ATG	p.I367M	FKRP_uc002pfp.2_Missense_Mutation_p.I367M	NM_024301	NP_077277	Q9H9S5	FKRP_HUMAN	fukutin-related protein	367						extracellular space|Golgi apparatus|rough endoplasmic reticulum|sarcolemma	transferase activity			pancreas(1)	1		all_epithelial(76;5.08e-05)|Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000541)|all cancers(93;0.00128)|Epithelial(262;0.0207)|GBM - Glioblastoma multiforme(486;0.0336)		ACCTGGGCATCTACTTGGAGG	0.701		NaN											0	0	0	0.02938	0	7	25									
NUCB1	4924	broad.mit.edu	37	19	49425626	49425626	+	Nonsense_Mutation	SNP	C	C	G			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr19:49425626C>G	uc002plb.3	+	13	1403	c.1331C>G	c.(1330-1332)TCA>TGA	p.S444*	NUCB1_uc002plc.2_Nonsense_Mutation_p.S444*|NUCB1_uc002pld.2_Nonsense_Mutation_p.S107*	NM_006184	NP_006175	Q02818	NUCB1_HUMAN	nucleobindin 1 precursor	444						ER-Golgi intermediate compartment|extracellular space|Golgi apparatus|membrane|microtubule cytoskeleton	calcium ion binding|DNA binding				0		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000171)|all cancers(93;0.000333)|Epithelial(262;0.0174)|GBM - Glioblastoma multiforme(486;0.0244)		GTGGACACTTCAGAAAAGAAA	0.547		NaN											0	0	0	0.139131	0	42	92									
ZNF28	7576	broad.mit.edu	37	19	53303586	53303586	+	Silent	SNP	G	G	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr19:53303586G>A	uc002qad.2	-	4	1632	c.1512C>T	c.(1510-1512)TTC>TTT	p.F504F	ZNF28_uc002qac.2_Silent_p.F451F|ZNF28_uc010eqe.2_Silent_p.F450F	NM_006969	NP_008900	P17035	ZNF28_HUMAN	zinc finger protein 28	504	C2H2-type 11.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(1)	1				GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145)		AATCACTCCGGAAAGCCTTGT	0.393		NaN											0	0	0	0.054565	0	30	161									
ZNF671	79891	broad.mit.edu	37	19	58238866	58238866	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr19:58238866C>G	uc002qpz.3	-	1	130	c.31G>C	c.(31-33)GAT>CAT	p.D11H	ZNF776_uc002qpx.2_Intron|ZNF671_uc010eug.2_5'UTR|ZNF671_uc010yhf.1_5'UTR	NM_024833	NP_079109	Q8TAW3	ZN671_HUMAN	zinc finger protein 671	11					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		TGCAGAGCATCAGACGCGTCT	0.667		NaN											0	0	0	0.038147	0	8	41									
SNTG2	54221	broad.mit.edu	37	2	1079260	1079260	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr2:1079260C>G	uc002qwq.2	+	2	257	c.129C>G	c.(127-129)ATC>ATG	p.I43M	SNTG2_uc002qwp.2_RNA|SNTG2_uc010ewi.2_Missense_Mutation_p.I43M	NM_018968	NP_061841	Q9NY99	SNTG2_HUMAN	syntrophin, gamma 2	43					central nervous system development	cytoplasm|cytoskeleton|sarcolemma|syntrophin complex	actin binding|PDZ domain binding			ovary(1)|large_intestine(1)|breast(1)	3	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)		CCTATGACATCCGGCTGAAGC	0.473		NaN											0	0	0	0.069288	0	21	97									
APOB	338	broad.mit.edu	37	2	21225673	21225673	+	Silent	SNP	T	T	C			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr2:21225673T>C	uc002red.2	-	29	12749	c.12621A>G	c.(12619-12621)AAA>AAG	p.K4207K		NM_000384	NP_000375	P04114	APOB_HUMAN	apolipoprotein B precursor	4207					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)	27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	ATATCCCAGGTTTCCCCGGAA	0.433		NaN											0	0	0	0.09319	0	12	65									
ASXL2	55252	broad.mit.edu	37	2	25982476	25982476	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr2:25982476C>G	uc002rgs.2	-	8	1035	c.814G>C	c.(814-816)GAG>CAG	p.E272Q	ASXL2_uc002rgt.1_Missense_Mutation_p.E12Q	NM_018263	NP_060733	Q76L83	ASXL2_HUMAN	additional sex combs like 2	272					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|protein binding			pancreas(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCCGGTGTCTCAACGTCAATG	0.423		NaN											0	0	0	0.139131	0	64	104									
SLC4A1AP	22950	broad.mit.edu	37	2	27888132	27888132	+	Missense_Mutation	SNP	G	G	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr2:27888132G>T	uc002rlk.3	+	2	1273	c.991G>T	c.(991-993)GAT>TAT	p.D331Y	SUPT7L_uc002rlh.1_5'Flank|SUPT7L_uc002rli.1_5'Flank|SUPT7L_uc010ymf.1_5'Flank|SUPT7L_uc002rlj.1_5'Flank|SUPT7L_uc010ezh.1_5'Flank	NM_018158	NP_060628	Q9BWU0	NADAP_HUMAN	solute carrier family 4 (anion exchanger),	331						cytoplasm|nucleus	double-stranded RNA binding|protein binding				0	Acute lymphoblastic leukemia(172;0.155)					TGGTAGCCAAGATGATGAGAT	0.398		NaN											1	0	5.35356e-11	0.076483	6.29079e-11	21	106									
PRKD3	23683	broad.mit.edu	37	2	37487476	37487476	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr2:37487476C>T	uc002rqd.2	-	14	2491	c.1936G>A	c.(1936-1938)GAA>AAA	p.E646K	PRKD3_uc002rqe.1_Missense_Mutation_p.E246K	NM_005813	NP_005804	O94806	KPCD3_HUMAN	protein kinase D3	646	Protein kinase.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction	cytoplasm|membrane|nucleus	ATP binding|metal ion binding|protein binding|protein kinase C activity			lung(2)|ovary(1)|central_nervous_system(1)	4		all_hematologic(82;0.21)				AAGACTCGTTCTGGGGTTTCA	0.393		NaN											0	0	0	0.09319	0	12	46									
PRKD3	23683	broad.mit.edu	37	2	37487528	37487528	+	Splice_Site	SNP	C	C	G			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr2:37487528C>G	uc002rqd.2	-	14	2440	c.1885_splice	c.e14-1	p.N629_splice	PRKD3_uc002rqe.1_Splice_Site_p.N229_splice	NM_005813	NP_005804	O94806	KPCD3_HUMAN	protein kinase D3						activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction	cytoplasm|membrane|nucleus	ATP binding|metal ion binding|protein binding|protein kinase C activity			lung(2)|ovary(1)|central_nervous_system(1)	4		all_hematologic(82;0.21)				GGTGCAAATTCTGAAGAGAGG	0.388		NaN											0	0	0	0.038147	0	7	37									
PSME4	23198	broad.mit.edu	37	2	54167130	54167130	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr2:54167130C>T	uc002rxp.2	-	4	564	c.508G>A	c.(508-510)GAA>AAA	p.E170K	PSME4_uc010yop.1_Missense_Mutation_p.E56K|PSME4_uc010yoq.1_RNA|PSME4_uc010fbu.1_5'UTR|PSME4_uc010fbv.1_Intron	NM_014614	NP_055429	Q14997	PSME4_HUMAN	proteasome (prosome, macropain) activator	170					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|spermatogenesis|viral reproduction	nuclear speck|proteasome complex	binding			ovary(2)|breast(2)|pancreas(1)	5			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			AGAATATTTTCTACAGAACTG	0.343		NaN											0	0	0	0.139131	0	56	57									
SPTBN1	6711	broad.mit.edu	37	2	54856191	54856191	+	Silent	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr2:54856191C>T	uc002rxu.2	+	14	2169	c.1920C>T	c.(1918-1920)CTC>CTT	p.L640L	SPTBN1_uc002rxv.1_Silent_p.L640L|SPTBN1_uc002rxx.2_Silent_p.L627L	NM_003128	NP_003119	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1 isoform 1	640	Spectrin 4.				actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton			ovary(3)|breast(2)|central_nervous_system(2)|skin(1)	8			Lung(47;0.24)			CCCGCCGCCTCTGGAAGTTCT	0.592		NaN											0	0	0	0.086207	0	37	132									
SNRNP200	23020	broad.mit.edu	37	2	96957605	96957605	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr2:96957605C>T	uc002svu.2	-	17	2280	c.2194G>A	c.(2194-2196)GGA>AGA	p.G732R	SNRNP200_uc002svw.1_5'Flank	NM_014014	NP_054733	O75643	U520_HUMAN	activating signal cointegrator 1 complex subunit	732	Helicase C-terminal 1.					catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			ovary(5)|skin(4)|large_intestine(1)	10						GCTGTCTTTCCAGTCTCCTTC	0.567		NaN											0	0	0	0.105934	0	13	52									
MAP4K4	9448	broad.mit.edu	37	2	102493575	102493575	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr2:102493575C>T	uc002tbg.2	+	24	2972	c.2917C>T	c.(2917-2919)CTT>TTT	p.L973F	MAP4K4_uc002tbc.2_Missense_Mutation_p.L1054F|MAP4K4_uc002tbd.2_Missense_Mutation_p.L946F|MAP4K4_uc002tbe.2_Missense_Mutation_p.L892F|MAP4K4_uc002tbf.2_Missense_Mutation_p.L1007F|MAP4K4_uc010yvy.1_Missense_Mutation_p.L969F|MAP4K4_uc002tbh.2_Missense_Mutation_p.L891F|MAP4K4_uc002tbi.2_Missense_Mutation_p.L776F|MAP4K4_uc010yvz.1_Missense_Mutation_p.L1013F|MAP4K4_uc002tbk.2_Missense_Mutation_p.L428F|MAP4K4_uc002tbl.2_Missense_Mutation_p.L159F	NM_145687	NP_663720	O95819	M4K4_HUMAN	mitogen-activated protein kinase kinase kinase	973	CNH.|Mediates interaction with RAP2A.				intracellular protein kinase cascade|regulation of JNK cascade|response to stress	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			stomach(1)|lung(1)|central_nervous_system(1)|skin(1)	4						AATGGACGTACTTGAGGGCTT	0.433		NaN											0	0	0	0.083992	0	24	37									
RANBP2	5903	broad.mit.edu	37	2	109384816	109384816	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr2:109384816C>G	uc002tem.3	+	20	7947	c.7821C>G	c.(7819-7821)ATC>ATG	p.I2607M		NM_006267	NP_006258	P49792	RBP2_HUMAN	RAN binding protein 2	2607					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding		RANBP2/ALK(16)	soft_tissue(16)|lung(1)|pancreas(1)	18						AATCTTCAATCAACTACACAT	0.328		NaN											0	0	0	0.139131	0	69	220									
PCDP1	200373	broad.mit.edu	37	2	120413990	120413990	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr2:120413990G>A	uc002tmb.2	+	25	2701	c.1609G>A	c.(1609-1611)GAG>AAG	p.E537K		NM_001029996	NP_001025167	Q4G0U5	PCDP1_HUMAN	primary ciliary dyskinesia protein 1	823						cilium	calmodulin binding				0	Colorectal(110;0.196)					GAAGCTGCTCGAGGAGATGAG	0.473		NaN											0	0	0	0.080935	0	10	45									
LIMS2	55679	broad.mit.edu	37	2	128399744	128399744	+	Silent	SNP	C	C	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr2:128399744C>A	uc002tpa.2	-	6	706	c.540G>T	c.(538-540)CTG>CTT	p.L180L	LIMS2_uc002tou.2_5'UTR|LIMS2_uc002tov.2_Silent_p.L28L|LIMS2_uc002tow.2_Silent_p.L28L|LIMS2_uc002tox.2_Silent_p.L204L|LIMS2_uc010fmb.2_Silent_p.L90L|LIMS2_uc002toy.2_Silent_p.L175L|LIMS2_uc010yzm.1_Silent_p.L202L|LIMS2_uc002toz.2_Silent_p.L175L|LIMS2_uc002tpb.2_Silent_p.L175L	NM_001161403	NP_001154875	Q7Z4I7	LIMS2_HUMAN	LIM and senescent cell antigen-like domains 2	180	LIM zinc-binding 3.				cell junction assembly	cytosol|focal adhesion|nucleus	zinc ion binding				0	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0681)		GCTCACCCTTCAGCTCGCGGG	0.692		NaN											1	0	0.00307968	0.038147	0.00348035	8	11									
GPR17	2840	broad.mit.edu	37	2	128408752	128408752	+	Missense_Mutation	SNP	C	C	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr2:128408752C>A	uc010yzn.1	+	4	1138	c.527C>A	c.(526-528)GCA>GAA	p.A176E	LIMS2_uc002tow.2_5'Flank|LIMS2_uc002tox.2_Intron|LIMS2_uc010fmb.2_Intron|LIMS2_uc002toy.2_Intron|LIMS2_uc010yzm.1_Intron|LIMS2_uc002tpa.2_Intron|LIMS2_uc002toz.2_Intron|LIMS2_uc002tpb.2_Intron|GPR17_uc002tpc.2_Missense_Mutation_p.A176E|GPR17_uc010yzo.1_Missense_Mutation_p.A148E|GPR17_uc002tpd.2_Missense_Mutation_p.A148E	NM_001161415	NP_001154887	Q13304	GPR17_HUMAN	G protein-coupled receptor 17 isoform a	176	Helical; Name=4; (Potential).					integral to plasma membrane	chemokine receptor activity|purinergic nucleotide receptor activity, G-protein coupled				0	Colorectal(110;0.1)	Ovarian(717;0.15)		BRCA - Breast invasive adenocarcinoma(221;0.0677)		CCCCTCTACGCACACCTGGCC	0.642		NaN											1	0	3.30712e-30	0.139131	3.9596e-30	65	96									
WDR33	55339	broad.mit.edu	37	2	128464101	128464101	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr2:128464101C>G	uc002tpg.1	-	22	3990	c.3807G>C	c.(3805-3807)CAG>CAC	p.Q1269H		NM_018383	NP_060853	Q9C0J8	WDR33_HUMAN	WD repeat domain 33 isoform 1	1269					postreplication repair|spermatogenesis	collagen|nucleus	protein binding				0	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0695)		TGGGCACTCTCTGAGCAGGTC	0.517		NaN											0	0	0	0.0333	0	17	79									
LRP1B	53353	broad.mit.edu	37	2	140990860	140990860	+	Silent	SNP	T	T	C			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr2:140990860T>C	uc002tvj.1	-	91	14667	c.13695A>G	c.(13693-13695)TTA>TTG	p.L4565L		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	4565	Cytoplasmic (Potential).				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CATCCATATATAATTTTGCAT	0.333		NaN								TSP Lung(27;0.18)			0	0	0	0.125774	0	26	14									
NEB	4703	broad.mit.edu	37	2	152510589	152510589	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr2:152510589C>T	uc010fnx.2	-	52	7023	c.6832G>A	c.(6832-6834)GAA>AAA	p.E2278K		NM_004543	NP_004534	P20929	NEBU_HUMAN	nebulin isoform 3	2278	Nebulin 60.				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1)	20				BRCA - Breast invasive adenocarcinoma(221;0.219)		TTCAAAGCTTCTTCCCATCCA	0.333		NaN											0	0	0	0.080935	0	12	38									
PRPF40A	55660	broad.mit.edu	37	2	153515522	153515522	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr2:153515522C>G	uc002tyh.3	-	24	2530	c.2508G>C	c.(2506-2508)GAG>GAC	p.E836D	PRPF40A_uc002tyg.3_Missense_Mutation_p.E292D|PRPF40A_uc010zcd.1_Missense_Mutation_p.E787D	NM_017892	NP_060362	O75400	PR40A_HUMAN	formin binding protein 3	863					mRNA processing|RNA splicing	nuclear matrix|nuclear speck	protein binding				0						TATAACTTCTCTCTGAGTAGC	0.323		NaN											0	0	0	0.014758	0	5	15									
SCN3A	6328	broad.mit.edu	37	2	166003408	166003408	+	Silent	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr2:166003408C>T	uc002ucx.2	-	12	2004	c.1512G>A	c.(1510-1512)AAG>AAA	p.K504K	SCN3A_uc002ucy.2_Silent_p.K504K|SCN3A_uc002ucz.2_Silent_p.K504K|SCN3A_uc002uda.1_Silent_p.K373K|SCN3A_uc002udb.1_Silent_p.K373K	NM_006922	NP_008853	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha	504						voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(4)|breast(3)|skin(2)|central_nervous_system(1)	10					Lamotrigine(DB00555)	GTCTTCTTTTCTTCCTTCGGT	0.438		NaN											0	0	0	0.069456	0	38	148									
SCN3A	6328	broad.mit.edu	37	2	166019259	166019259	+	Silent	SNP	C	C	G			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr2:166019259C>G	uc002ucx.2	-	8	1266	c.774G>C	c.(772-774)CTG>CTC	p.L258L	SCN3A_uc002ucy.2_Silent_p.L258L|SCN3A_uc002ucz.2_Silent_p.L258L|SCN3A_uc002uda.1_Silent_p.L127L|SCN3A_uc002udb.1_Silent_p.L127L	NM_006922	NP_008853	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha	258	Helical; Name=S5 of repeat I; (Potential).					voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(4)|breast(3)|skin(2)|central_nervous_system(1)	10					Lamotrigine(DB00555)	CAAACACGCTCAGACAGAACA	0.483		NaN											0	0	0	0.083992	0	23	82									
GALNT3	2591	broad.mit.edu	37	2	166627186	166627186	+	Nonsense_Mutation	SNP	T	T	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr2:166627186T>A	uc010fph.1	-	2	412	c.25A>T	c.(25-27)AAA>TAA	p.K9*	GALNT3_uc010fpi.1_Nonsense_Mutation_p.K9*|GALNT3_uc002udi.2_Nonsense_Mutation_p.K9*	NM_004482	NP_004473	Q14435	GALT3_HUMAN	polypeptide N-acetylgalactosaminyltransferase 3	9	Cytoplasmic (Potential).				protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	Golgi cisterna membrane|integral to membrane|membrane fraction|nucleus|perinuclear region of cytoplasm	calcium ion binding|manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			central_nervous_system(2)|ovary(1)	3						ATGTGTAATTTTACTAGTCGC	0.284		NaN											0	0	0	0.069456	0	35	46									
SCN9A	6335	broad.mit.edu	37	2	167151173	167151173	+	Splice_Site	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr2:167151173C>T	uc010fpl.2	-	8	1243	c.902_splice	c.e8-1	p.K301_splice	uc002udp.2_RNA|SCN9A_uc002udr.1_Splice_Site_p.K172_splice|SCN9A_uc002uds.1_Splice_Site_p.K172_splice|SCN9A_uc002udt.1_Splice_Site_p.K172_splice	NM_002977	NP_002968	Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha							voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(6)|central_nervous_system(5)|skin(2)	13					Lamotrigine(DB00555)|Lidocaine(DB00281)	TAAAAATATTCTGTTGAAGAA	0.303		NaN											0	0	0	0.021553	0	6	31									
CDCA7	83879	broad.mit.edu	37	2	174231089	174231089	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr2:174231089C>T	uc002uid.1	+	7	1008	c.877C>T	c.(877-879)CGA>TGA	p.R293*	CDCA7_uc002uic.1_Nonsense_Mutation_p.R372*|CDCA7_uc010zej.1_Nonsense_Mutation_p.R328*|CDCA7_uc010zek.1_Nonsense_Mutation_p.R251*	NM_145810	NP_665809	Q9BWT1	CDCA7_HUMAN	cell division cycle associated 7 isoform 2	293	Mediates transcriptional activity.				regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				ovary(1)	1			OV - Ovarian serous cystadenocarcinoma(117;0.116)			CTGGGGCGTTCGAGGCCAGTT	0.522		NaN											0	0	0	0.064281	0	38	71									
TTN	7273	broad.mit.edu	37	2	179451491	179451491	+	Silent	SNP	G	G	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr2:179451491G>A	uc010zfg.1	-	257	56657	c.56433C>T	c.(56431-56433)ACC>ACT	p.T18811T	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.T12506T|TTN_uc010zfi.1_Silent_p.T12439T|TTN_uc010zfj.1_Silent_p.T12314T	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	19738							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CACTGTTCTTGGTCATTTCAG	0.448		NaN											0	0	0	0.139131	0	57	82									
TTN	7273	broad.mit.edu	37	2	179473525	179473525	+	Missense_Mutation	SNP	T	T	C			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr2:179473525T>C	uc010zfg.1	-	223	44733	c.44509A>G	c.(44509-44511)ACT>GCT	p.T14837A	uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.T8532A|TTN_uc010zfi.1_Missense_Mutation_p.T8465A|TTN_uc010zfj.1_Missense_Mutation_p.T8340A	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	15764							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTTTCCAAAGTGTAGTTTATG	0.378		NaN											0	0	0	0.055883	0	20	83									
ITGA4	3676	broad.mit.edu	37	2	182360109	182360109	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr2:182360109G>C	uc002unu.2	+	13	2114	c.1351G>C	c.(1351-1353)GGT>CGT	p.G451R		NM_000885	NP_000876	P13612	ITA4_HUMAN	integrin alpha 4 precursor	451	FG-GAP 7.|Extracellular (Potential).				blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity			ovary(3)|lung(1)|central_nervous_system(1)|pancreas(1)	6			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)	TGTAGCAGTTGGTGCTTTTCG	0.348		NaN											0	0	0	0.11126	0	40	75									
CLK1	1195	broad.mit.edu	37	2	201726128	201726128	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr2:201726128C>T	uc002uwe.2	-	3	404	c.223G>A	c.(223-225)GAG>AAG	p.E75K	CLK1_uc010zhi.1_Missense_Mutation_p.E117K|CLK1_uc002uwf.2_5'UTR|CLK1_uc002uwg.2_5'UTR|CLK1_uc010fsv.2_RNA	NM_004071	NP_004062	P49759	CLK1_HUMAN	CDC-like kinase 1 isoform 1	75					cell proliferation	nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein serine/threonine kinase activity			pancreas(2)	2						TTTCTGTACTCATCAATGTAG	0.373		NaN											0	0	0	0.083992	0	26	88									
ICA1L	130026	broad.mit.edu	37	2	203650663	203650663	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr2:203650663C>G	uc002uzh.1	-	13	1475	c.1311G>C	c.(1309-1311)CAG>CAC	p.Q437H	ICA1L_uc002uzi.1_Missense_Mutation_p.Q437H	NM_138468	NP_612477	Q8NDH6	ICA1L_HUMAN	islet cell autoantigen 1,69kDa-like isoform 1	437											0						TCTTTGGACTCTGTGAAGGCA	0.328		NaN											0	0	0	0.104719	0	38	79									
WDR12	55759	broad.mit.edu	37	2	203765749	203765749	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr2:203765749G>A	uc002uzl.2	-	3	980	c.230C>T	c.(229-231)TCA>TTA	p.S77L	WDR12_uc010ftt.2_Missense_Mutation_p.S77L	NM_018256	NP_060726	Q9GZL7	WDR12_HUMAN	WD repeat domain 12 protein	77					cell proliferation|maturation of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)	nucleoplasm|PeBoW complex|preribosome, large subunit precursor	protein binding				0						TGAACTTACTGATGAGATGTT	0.383		NaN											0	0	0	0.021553	0	6	33									
PARD3B	117583	broad.mit.edu	37	2	206480357	206480357	+	Silent	SNP	G	G	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr2:206480357G>A	uc002var.1	+	23	3645	c.3438G>A	c.(3436-3438)CCG>CCA	p.P1146P	PARD3B_uc002vao.1_Silent_p.P1045P|PARD3B_uc002vap.1_Silent_p.P1084P|PARD3B_uc002vaq.1_Silent_p.P1077P|uc010fuc.1_5'Flank	NM_152526	NP_689739	Q8TEW8	PAR3L_HUMAN	par-3 partitioning defective 3 homolog B isoform	1146	Poly-Pro.				cell cycle|cell division	endomembrane system|tight junction				skin(2)|ovary(1)|breast(1)	4		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)		ACCCACCCCCGCCAGCTCCCC	0.617		NaN											0	0	0	0.062417	0	22	76									
GPR1	2825	broad.mit.edu	37	2	207041526	207041526	+	Missense_Mutation	SNP	C	C	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr2:207041526C>A	uc002vbl.3	-	3	832	c.446G>T	c.(445-447)CGA>CTA	p.R149L	GPR1_uc010fue.2_Missense_Mutation_p.R149L|GPR1_uc010fuf.2_Missense_Mutation_p.R149L	NM_005279	NP_005270	P46091	GPR1_HUMAN	G protein-coupled receptor 1	149	Cytoplasmic (Potential).					integral to plasma membrane	G-protein coupled receptor activity				0		Lung NSC(271;7.93e-06)|Renal(323;0.000147)|Hepatocellular(293;0.000888)		UCEC - Uterine corpus endometrioid carcinoma (47;0.000241)|Epithelial(149;1.91e-37)|STAD - Stomach adenocarcinoma(1183;0.00178)|Lung(261;0.111)|LUSC - Lung squamous cell carcinoma(261;0.184)		CTTGAGGGTTCGATGCCGATG	0.463		NaN											1	0	1.67942e-08	0.038395	1.94251e-08	17	48									
GMPPA	29926	broad.mit.edu	37	2	220367145	220367145	+	Silent	SNP	G	G	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr2:220367145G>A	uc002vlr.2	+	6	539	c.471G>A	c.(469-471)GAG>GAA	p.E157E	GMPPA_uc002vls.2_Silent_p.E157E|GMPPA_uc002vlt.2_Silent_p.E157E|GMPPA_uc002vlu.2_Silent_p.E157E|GMPPA_uc002vlv.2_Silent_p.E157E|GMPPA_uc002vlw.2_RNA|GMPPA_uc002vlx.2_Silent_p.E157E	NM_013335	NP_037467	Q96IJ6	GMPPA_HUMAN	GDP-mannose pyrophosphorylase A	157					dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine		GTP binding|mannose-1-phosphate guanylyltransferase activity				0		Renal(207;0.0183)		Epithelial(149;3.82e-10)|all cancers(144;6.25e-08)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00807)|READ - Rectum adenocarcinoma(5;0.148)		GCATCGTTGAGAATCCACAGA	0.582		NaN											0	0	0	0.069234	0	10	24									
SPHKAP	80309	broad.mit.edu	37	2	228883342	228883342	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr2:228883342C>T	uc002vpq.2	-	7	2275	c.2228G>A	c.(2227-2229)AGA>AAA	p.R743K	SPHKAP_uc002vpp.2_Missense_Mutation_p.R743K|SPHKAP_uc010zlx.1_Missense_Mutation_p.R743K	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	sphingosine kinase type 1-interacting protein	743						cytoplasm	protein binding			skin(5)|ovary(4)|lung(1)	10		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		CTCCCTCCTTCTGATGGTCTC	0.473		NaN											0	0	0	0.014758	0	5	125									
SPHKAP	80309	broad.mit.edu	37	2	228973649	228973649	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr2:228973649G>A	uc002vpq.2	-	3	192	c.145C>T	c.(145-147)CGC>TGC	p.R49C	SPHKAP_uc002vpp.2_Missense_Mutation_p.R49C|SPHKAP_uc010zlx.1_Missense_Mutation_p.R49C	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	sphingosine kinase type 1-interacting protein	49						cytoplasm	protein binding			skin(5)|ovary(4)|lung(1)	10		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		CTATTGCTGCGAAGAACCTGG	0.413		NaN											0	0	0	0.124865	0	46	67									
DGKD	8527	broad.mit.edu	37	2	234358738	234358738	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr2:234358738G>A	uc002vui.1	+	16	2011	c.1999G>A	c.(1999-2001)GAG>AAG	p.E667K	DGKD_uc002vuj.1_Missense_Mutation_p.E623K|DGKD_uc010fyh.1_Missense_Mutation_p.E534K|DGKD_uc010fyi.1_RNA	NM_152879	NP_690618	Q16760	DGKD_HUMAN	diacylglycerol kinase, delta 130kDa isoform 2	667					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell growth|diacylglycerol metabolic process|endocytosis|epidermal growth factor receptor signaling pathway|multicellular organismal development|platelet activation|protein homooligomerization|protein transport|response to organic substance|second-messenger-mediated signaling	cytoplasm|cytoplasmic membrane-bounded vesicle|plasma membrane|plasma membrane	ATP binding|diacylglycerol binding|diacylglycerol kinase activity|metal ion binding|protein heterodimerization activity|protein homodimerization activity			central_nervous_system(2)|pancreas(1)|lung(1)|skin(1)	5		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538)		Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655)	Phosphatidylserine(DB00144)	GTCCCACAGCGAGAGCTTCGG	0.622		NaN											0	0	0	0.038147	0	6	38									
AGAP1	116987	broad.mit.edu	37	2	236617866	236617866	+	Silent	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr2:236617866C>T	uc002vvs.2	+	2	802	c.207C>T	c.(205-207)GTC>GTT	p.V69V	AGAP1_uc002vvt.2_Silent_p.V69V	NM_001037131	NP_001032208	Q9UPQ3	AGAP1_HUMAN	centaurin, gamma 2 isoform 1	69	Small GTPase-like.				protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm	ARF GTPase activator activity|GTP binding|zinc ion binding			ovary(2)|skin(1)	3						GTCGATCTGTCCCGGAGCTCA	0.557		NaN											0	0	0	0.139131	0	43	151									
ASB18	401036	broad.mit.edu	37	2	237150037	237150037	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr2:237150037C>T	uc010znh.1	-	2	214	c.214G>A	c.(214-216)GAC>AAC	p.D72N	ASB18_uc010fyp.1_Missense_Mutation_p.D43N	NM_212556	NP_997721	Q6ZVZ8	ASB18_HUMAN	ankyrin repeat and SOCS box-containing 18	72					intracellular signal transduction					ovary(1)	1		all_hematologic(139;0.00615)|Renal(207;0.00963)|Breast(86;0.0126)|Acute lymphoblastic leukemia(138;0.0815)		Epithelial(121;2.04e-26)|OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(100;2.88e-05)|Lung(119;0.000383)|LUSC - Lung squamous cell carcinoma(224;0.00644)|GBM - Glioblastoma multiforme(43;0.244)		TTCAGATGGTCGAGGTCCCCT	0.517		NaN											0	0	0	0.099896	0	26	28									
ANO7	50636	broad.mit.edu	37	2	242128095	242128095	+	Silent	SNP	G	G	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr2:242128095G>A	uc002wax.2	+	1	172	c.69G>A	c.(67-69)GTG>GTA	p.V23V	ANO7_uc002waw.2_Silent_p.V23V	NM_001001891	NP_001001891	Q6IWH7	ANO7_HUMAN	transmembrane protein 16G isoform NGEP long	23	Cytoplasmic (Potential).					cell junction|chloride channel complex|cytosol	chloride channel activity			pancreas(2)|central_nervous_system(1)	3						GTCCCGCAGTGAGGACGGGAC	0.677		NaN											0	0	0	0.108266	0	26	34									
MCM8	84515	broad.mit.edu	37	20	5937805	5937805	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr20:5937805G>C	uc002wmi.2	+	6	897	c.520G>C	c.(520-522)GAG>CAG	p.E174Q	MCM8_uc002wmj.2_Missense_Mutation_p.E174Q|MCM8_uc002wmk.2_Missense_Mutation_p.E174Q|MCM8_uc002wml.2_Missense_Mutation_p.E174Q|MCM8_uc010gbp.2_Missense_Mutation_p.E174Q	NM_032485	NP_115874	Q9UJA3	MCM8_HUMAN	minichromosome maintenance complex component 8	174					cell cycle checkpoint|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|nucleoside-triphosphatase activity			skin(1)	1						GCATGCAGCTGAGTTACAAGC	0.368		NaN											0	0	0	0.038147	0	6	42									
MCM8	84515	broad.mit.edu	37	20	5937835	5937835	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr20:5937835G>A	uc002wmi.2	+	6	927	c.550G>A	c.(550-552)GAT>AAT	p.D184N	MCM8_uc002wmj.2_Missense_Mutation_p.D184N|MCM8_uc002wmk.2_Missense_Mutation_p.D184N|MCM8_uc002wml.2_Missense_Mutation_p.D184N|MCM8_uc010gbp.2_Missense_Mutation_p.D184N	NM_032485	NP_115874	Q9UJA3	MCM8_HUMAN	minichromosome maintenance complex component 8	184					cell cycle checkpoint|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|nucleoside-triphosphatase activity			skin(1)	1						ATTGTCTAATGATGGAGAAAC	0.383		NaN											0	0	0	0.038147	0	6	36									
MCM8	84515	broad.mit.edu	37	20	5937839	5937839	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr20:5937839G>A	uc002wmi.2	+	6	931	c.554G>A	c.(553-555)GGA>GAA	p.G185E	MCM8_uc002wmj.2_Missense_Mutation_p.G185E|MCM8_uc002wmk.2_Missense_Mutation_p.G185E|MCM8_uc002wml.2_Missense_Mutation_p.G185E|MCM8_uc010gbp.2_Missense_Mutation_p.G185E	NM_032485	NP_115874	Q9UJA3	MCM8_HUMAN	minichromosome maintenance complex component 8	185					cell cycle checkpoint|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|nucleoside-triphosphatase activity			skin(1)	1						TCTAATGATGGAGAAACAATG	0.383		NaN											0	0	0	0.02938	0	5	37									
RBBP9	10741	broad.mit.edu	37	20	18474623	18474623	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr20:18474623G>A	uc002wqy.2	-	3	303	c.227C>T	c.(226-228)TCT>TTT	p.S76F		NM_006606	NP_006597	O75884	RBBP9_HUMAN	retinoblastoma binding protein 9	76						cytoplasm|nucleus	hydrolase activity			haematopoietic_and_lymphoid_tissue(1)	1						GATGGCCCCAGAACTGTGGCC	0.493		NaN											0	0	0	0.083992	0	23	125									
SPAG4	6676	broad.mit.edu	37	20	34206013	34206013	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr20:34206013C>G	uc002xdb.1	+	5	660	c.543C>G	c.(541-543)TTC>TTG	p.F181L	SPAG4_uc010zvi.1_Missense_Mutation_p.F104L	NM_003116	NP_003107	Q9NPE6	SPAG4_HUMAN	sperm associated antigen 4	181	Helical; (Potential).				spermatogenesis	cilium|flagellar axoneme|integral to membrane	structural molecule activity				0	Lung NSC(9;0.0053)|all_lung(11;0.00785)		BRCA - Breast invasive adenocarcinoma(18;0.0127)			CTCCAGCATTCTGGCTGGGGC	0.557		NaN											0	0	0	0.108266	0	23	105									
BCAS1	8537	broad.mit.edu	37	20	52645063	52645063	+	Silent	SNP	G	G	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr20:52645063G>A	uc002xws.2	-	4	929	c.591C>T	c.(589-591)TTC>TTT	p.F197F	BCAS1_uc010zzb.1_Silent_p.F100F|BCAS1_uc010gim.2_Silent_p.F100F|BCAS1_uc002xwt.2_Silent_p.F197F|BCAS1_uc010gil.1_Silent_p.F197F|BCAS1_uc010zzc.1_Silent_p.F100F	NM_003657	NP_003648	O75363	BCAS1_HUMAN	breast carcinoma amplified sequence 1	197						cytoplasm	protein binding			ovary(2)|central_nervous_system(1)	3	Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05)		STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198)			CCAGCTTGAAGAATTTGTCAA	0.557		NaN											0	0	0	0.059317	0	33	205									
BCAS1	8537	broad.mit.edu	37	20	52645101	52645101	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr20:52645101G>A	uc002xws.2	-	4	891	c.553C>T	c.(553-555)CCC>TCC	p.P185S	BCAS1_uc010zzb.1_Missense_Mutation_p.P88S|BCAS1_uc010gim.2_Missense_Mutation_p.P88S|BCAS1_uc002xwt.2_Missense_Mutation_p.P185S|BCAS1_uc010gil.1_Missense_Mutation_p.P185S|BCAS1_uc010zzc.1_Missense_Mutation_p.P88S	NM_003657	NP_003648	O75363	BCAS1_HUMAN	breast carcinoma amplified sequence 1	185						cytoplasm	protein binding			ovary(2)|central_nervous_system(1)	3	Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05)		STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198)			GGCTTGGAGGGAGCTTCTCCT	0.592		NaN											0	0	0	0.069288	0	24	154									
DIDO1	11083	broad.mit.edu	37	20	61537316	61537316	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr20:61537316G>A	uc002ydr.1	-	6	1775	c.1511C>T	c.(1510-1512)TCG>TTG	p.S504L	DIDO1_uc002yds.1_Missense_Mutation_p.S504L|DIDO1_uc002ydt.1_Missense_Mutation_p.S504L|DIDO1_uc002ydu.1_Missense_Mutation_p.S504L|DIDO1_uc002ydv.1_Missense_Mutation_p.S504L|DIDO1_uc002ydw.1_Missense_Mutation_p.S504L|DIDO1_uc002ydx.1_Missense_Mutation_p.S504L|DIDO1_uc011aao.1_Missense_Mutation_p.S504L	NM_033081	NP_149072	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1 isoform c	504					apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			ovary(3)|skin(3)	6	Breast(26;5.68e-08)					GCTCGCCCACGACGGCGTGCT	0.532		NaN											0	0	0	0.069234	0	10	203									
NRIP1	8204	broad.mit.edu	37	21	16337172	16337172	+	Silent	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr21:16337172C>T	uc002yjx.2	-	4	3940	c.3342G>A	c.(3340-3342)ACG>ACA	p.T1114T		NM_003489	NP_003480	P48552	NRIP1_HUMAN	nuclear receptor interacting protein 1	1114					androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		androgen receptor binding|estrogen receptor binding|glucocorticoid receptor binding|transcription coactivator activity|transcription corepressor activity				0				Epithelial(23;1.19e-05)|all cancers(11;4.64e-05)|COAD - Colon adenocarcinoma(22;0.000232)|Colorectal(24;0.0006)|OV - Ovarian serous cystadenocarcinoma(11;0.00418)|Lung(58;0.199)|LUSC - Lung squamous cell carcinoma(23;0.24)		AAGAAGCTTTCGTTTCTGCAG	0.438		NaN											0	0	0	0.139131	0	53	85									
GABPA	2551	broad.mit.edu	37	21	27137078	27137078	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr21:27137078G>C	uc002ylx.3	+	9	1643	c.1116G>C	c.(1114-1116)GAG>GAC	p.E372D	GABPA_uc002yly.3_Missense_Mutation_p.E372D	NM_002040	NP_002031	Q06546	GABPA_HUMAN	GA binding protein transcription factor, alpha	372	ETS.				positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding			ovary(1)|central_nervous_system(1)	2						TGAACTATGAGAAACTCAGTC	0.333		NaN											0	0	0	0.047766	0	9	50									
KRTAP19-5	337972	broad.mit.edu	37	21	31874326	31874326	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr21:31874326C>T	uc011ada.1	-	1	83	c.83G>A	c.(82-84)GGA>GAA	p.G28E		NM_181611	NP_853642	Q3LI72	KR195_HUMAN	keratin associated protein 19-5	28						intermediate filament	protein binding				0						GCTGCCACATCCACAGCCATA	0.597		NaN											0	0	0	0.139131	0	92	147									
CRYAA	1409	broad.mit.edu	37	21	44592274	44592274	+	Missense_Mutation	SNP	G	G	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr21:44592274G>T	uc002zdd.1	+	3	475	c.406G>T	c.(406-408)GAT>TAT	p.D136Y		NM_000394	NP_000385	P02489	CRYAA_HUMAN	crystallin, alpha A	136					anti-apoptosis|negative regulation of intracellular transport|protein homooligomerization|response to heat|visual perception	cytoplasm|nucleus	structural constituent of eye lens|unfolded protein binding			breast(1)|central_nervous_system(1)	2						CCTGTCTGCCGATGGCATGCT	0.657		NaN											1	0	0.000422831	0.146539	0.000482769	17	74									
PDXK	8566	broad.mit.edu	37	21	45161560	45161560	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr21:45161560G>A	uc002zdm.3	+	3	353	c.155G>A	c.(154-156)TGG>TAG	p.W52*	PDXK_uc010gpj.2_Nonsense_Mutation_p.W52*|PDXK_uc002zdn.3_Nonsense_Mutation_p.W52*|PDXK_uc002zdq.3_Intron	NM_003681	NP_003672	O00764	PDXK_HUMAN	pyridoxal kinase	52					cell proliferation|pyridoxal 5'-phosphate salvage	cytosol	ATP binding|lithium ion binding|magnesium ion binding|potassium ion binding|protein homodimerization activity|pyridoxal kinase activity|pyridoxal phosphate binding|sodium ion binding|zinc ion binding				0				Colorectal(79;0.109)|READ - Rectum adenocarcinoma(84;0.161)|STAD - Stomach adenocarcinoma(101;0.18)	Pyridoxal(DB00147)|Pyridoxine(DB00165)	TATGCCCACTGGAAGGGCCAA	0.577		NaN											0	0	0	0.021553	0	5	83									
COMT	1312	broad.mit.edu	37	22	19951777	19951777	+	Silent	SNP	C	C	G			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr22:19951777C>G	uc002zqu.2	+	5	819	c.570C>G	c.(568-570)CTC>CTG	p.L190L	COMT_uc002zqt.2_Silent_p.L190L|COMT_uc002zqv.2_Silent_p.L190L|COMT_uc002zqw.2_Silent_p.L190L|COMT_uc011ahd.1_Silent_p.L190L|COMT_uc002zqx.2_Silent_p.L190L	NM_000754	NP_000745	P21964	COMT_HUMAN	catechol-O-methyltransferase isoform MB-COMT	190					neurotransmitter biosynthetic process|neurotransmitter catabolic process|xenobiotic metabolic process	cytosol|integral to membrane|intracellular membrane-bounded organelle|microsome|plasma membrane|soluble fraction	catechol O-methyltransferase activity|magnesium ion binding|protein binding			ovary(1)	1	Colorectal(54;0.0993)				Carbidopa(DB00190)|Conjugated Estrogens(DB00286)|Diethylstilbestrol(DB00255)|Dobutamine(DB00841)|Dopamine(DB00988)|Entacapone(DB00494)|Folic Acid(DB00158)|L-Valine(DB00161)|Levodopa(DB01235)|Methyldopa(DB00968)|Modafinil(DB00745)|Morphine(DB00295)|S-Adenosylmethionine(DB00118)|Tolcapone(DB00323)	TGGTCTTCCTCGACCACTGGA	0.592		NaN											0	0	0	0.134883	0	31	70									
SEZ6L	23544	broad.mit.edu	37	22	26761376	26761376	+	Nonsense_Mutation	SNP	G	G	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr22:26761376G>T	uc003acb.2	+	13	2794	c.2638G>T	c.(2638-2640)GAA>TAA	p.E880*	SEZ6L_uc003acc.2_Nonsense_Mutation_p.E880*|SEZ6L_uc011akc.1_Nonsense_Mutation_p.E880*|SEZ6L_uc003acd.2_Nonsense_Mutation_p.E816*|SEZ6L_uc011akd.1_Nonsense_Mutation_p.E880*|SEZ6L_uc003ace.2_Intron|SEZ6L_uc003acf.1_Nonsense_Mutation_p.E653*|SEZ6L_uc010gvc.1_Intron|SEZ6L_uc011ake.1_RNA	NM_021115	NP_066938	Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like	880	Sushi 5.|Extracellular (Potential).					endoplasmic reticulum membrane|integral to membrane				ovary(4)|central_nervous_system(1)|pancreas(1)	6						AGGGCTGCCTGAAAATGGATA	0.522		NaN											1	0	1.50986e-39	0.139131	1.81266e-39	100	128									
CARD10	29775	broad.mit.edu	37	22	37898637	37898637	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr22:37898637G>A	uc003asx.1	-	11	1762	c.1759C>T	c.(1759-1761)CGG>TGG	p.R587W	CARD10_uc003ast.1_RNA|CARD10_uc003asw.1_Missense_Mutation_p.R301W|CARD10_uc003asy.1_Missense_Mutation_p.R587W	NM_014550	NP_055365	Q9BWT7	CAR10_HUMAN	caspase recruitment domain protein 10	587					activation of NF-kappaB-inducing kinase activity|protein complex assembly|regulation of apoptosis	CBM complex	receptor signaling complex scaffold activity			upper_aerodigestive_tract(1)|lung(1)|breast(1)|ovary(1)|prostate(1)|kidney(1)	6	Melanoma(58;0.0574)					CCACAGCCCCGAGCCAGGAGG	0.617		NaN											0	0	0	0.105934	0	13	41									
TRIOBP	11078	broad.mit.edu	37	22	38155170	38155170	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr22:38155170C>T	uc003atr.2	+	17	6494	c.6223C>T	c.(6223-6225)CTT>TTT	p.L2075F	TRIOBP_uc003atu.2_Missense_Mutation_p.L1903F|TRIOBP_uc003atv.2_Missense_Mutation_p.L362F|TRIOBP_uc003atw.2_Missense_Mutation_p.L362F|TRIOBP_uc003atx.1_5'UTR|TRIOBP_uc010gxh.2_5'UTR	NM_001039141	NP_001034230	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein isoform 6	2075	Potential.				actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding			central_nervous_system(1)	1	Melanoma(58;0.0574)					GGTTCAGGCTCTTCGGGCCCA	0.652		NaN											0	0	0	0.021553	0	5	28									
TBC1D22A	25771	broad.mit.edu	37	22	47507475	47507475	+	Missense_Mutation	SNP	A	A	C			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr22:47507475A>C	uc003bib.2	+	12	1536	c.1401A>C	c.(1399-1401)GAA>GAC	p.E467D	TBC1D22A_uc010haf.2_Missense_Mutation_p.E437D|TBC1D22A_uc003bic.2_Missense_Mutation_p.E408D|TBC1D22A_uc003bie.2_Missense_Mutation_p.E389D|TBC1D22A_uc003bid.2_RNA|TBC1D22A_uc010hag.2_RNA|TBC1D22A_uc003bif.2_Missense_Mutation_p.E420D	NM_014346	NP_055161	Q8WUA7	TB22A_HUMAN	TBC1 domain family, member 22A	467						intracellular	protein homodimerization activity|Rab GTPase activator activity			ovary(1)	1		all_cancers(38;4.44e-05)|all_epithelial(38;0.000507)|Breast(42;0.0488)|all_lung(38;0.0682)|Ovarian(80;0.0731)|all_neural(38;0.0966)|Glioma(61;0.222)|Lung SC(80;0.236)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0347)|BRCA - Breast invasive adenocarcinoma(115;0.231)		GGAGGAAGGAAATACTAGAAG	0.358		NaN											0	0	0	0.105934	0	12	43									
SETD5	55209	broad.mit.edu	37	3	9517349	9517349	+	Missense_Mutation	SNP	C	C	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr3:9517349C>A	uc003brt.2	+	23	4338	c.3903C>A	c.(3901-3903)AGC>AGA	p.S1301R	SETD5_uc003bru.2_Missense_Mutation_p.S1203R|SETD5_uc003brv.2_Missense_Mutation_p.S1190R|SETD5_uc010hck.2_Missense_Mutation_p.S783R|SETD5_uc003brx.2_Missense_Mutation_p.S970R	NM_001080517	NP_001073986	Q9C0A6	SETD5_HUMAN	SET domain containing 5	1301	Ser-rich.									ovary(2)	2	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.112)		CCTATTCCAGCCCCGCCCACC	0.547		NaN											1	0	6.94344e-10	0.038395	8.11595e-10	13	52									
MLH1	4292	broad.mit.edu	37	3	37092133	37092133	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr3:37092133G>C	uc003cgl.2	+	19	2320	c.2260G>C	c.(2260-2262)GAG>CAG	p.E754Q	MLH1_uc011aye.1_Intron|MLH1_uc011ayb.1_Missense_Mutation_p.E513Q|MLH1_uc010hge.2_Missense_Mutation_p.E685Q|MLH1_uc003cgn.3_Missense_Mutation_p.E513Q|MLH1_uc011ayc.1_Missense_Mutation_p.E656Q|MLH1_uc011ayd.1_Missense_Mutation_p.E513Q|MLH1_uc003cgo.2_Missense_Mutation_p.E513Q|MLH1_uc010hgk.2_Missense_Mutation_p.E341Q|MLH1_uc010hgn.2_Missense_Mutation_p.L250F|MLH1_uc010hgm.2_RNA|MLH1_uc010hgo.2_3'UTR|MLH1_uc010hgp.2_Missense_Mutation_p.E137Q|MLH1_uc010hgq.2_RNA	NM_000249	NP_000240	P40692	MLH1_HUMAN	MutL protein homolog 1	754					mismatch repair|somatic hypermutation of immunoglobulin genes	chiasma|MutLalpha complex|MutLbeta complex|synaptonemal complex	ATP binding|ATPase activity|protein binding	p.0?(1)		large_intestine(40)|haematopoietic_and_lymphoid_tissue(8)|ovary(6)|pancreas(5)|stomach(3)|central_nervous_system(3)|endometrium(3)|breast(3)|prostate(3)|skin(2)|NS(1)	77						CAAAGTCTTTGAGAGGTGTTA	0.383		1	D|Mis|N|F|S		colorectal|endometrial|ovarian|CNS	colorectal|endometrial|ovarian|CNS		MMR	Lynch_syndrome|Muir-Torre_syndrome|Turcot_syndrome|Constitutional_Mismatch_Repair_Deficiency_Syndrome				0	0	0	0.11911	0	13	51									
CELSR3	1951	broad.mit.edu	37	3	48697790	48697790	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr3:48697790C>T	uc003cul.2	-	1	2559	c.2278G>A	c.(2278-2280)GAG>AAG	p.E760K	CELSR3_uc003cuf.1_Missense_Mutation_p.E830K	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN	cadherin EGF LAG seven-pass G-type receptor 3	760	Extracellular (Potential).|Cadherin 5.				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			ovary(5)|upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)	11				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		AGGTGGTACTCCTTCATTGTG	0.567		NaN											0	0	0	0.0333	0	17	53									
GRM2	2912	broad.mit.edu	37	3	51751819	51751819	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr3:51751819C>T	uc010hlv.2	+	5	2770	c.2531C>T	c.(2530-2532)TCC>TTC	p.S844F	GRM2_uc003dbo.3_Missense_Mutation_p.S226F|GRM2_uc010hlu.2_RNA	NM_000839	NP_000830	Q14416	GRM2_HUMAN	glutamate receptor, metabotropic 2 isoform a	844	Cytoplasmic (Potential).				synaptic transmission	integral to plasma membrane				lung(1)	1				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Acamprosate(DB00659)|Nicotine(DB00184)	AGGGCCAGCTCCAGCCTTGGC	0.627		NaN											0	0	0	0.105934	0	13	44									
EPHA6	285220	broad.mit.edu	37	3	96706267	96706267	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr3:96706267C>T	uc010how.1	+	3	587	c.544C>T	c.(544-546)CGT>TGT	p.R182C	EPHA6_uc003drp.1_Missense_Mutation_p.R182C	NM_001080448	NP_001073917	Q9UF33	EPHA6_HUMAN	EPH receptor A6 isoform a	87	Ephrin-binding.|Extracellular (Potential).					integral to plasma membrane	ATP binding|ephrin receptor activity			stomach(5)|lung(4)|central_nervous_system(3)|breast(1)|skin(1)|ovary(1)|kidney(1)	16						CAACTGGCTTCGTACAAACTG	0.428		NaN											0	0	0	0.076483	0	24	150									
FILIP1L	11259	broad.mit.edu	37	3	99567199	99567199	+	Silent	SNP	G	G	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr3:99567199G>A	uc003dtm.2	-	5	3784	c.3321C>T	c.(3319-3321)GTC>GTT	p.V1107V	C3orf26_uc003dtk.1_Intron|C3orf26_uc003dtl.2_Intron|FILIP1L_uc003dto.2_Silent_p.V1107V|FILIP1L_uc010hpf.2_Silent_p.V683V|FILIP1L_uc010hpg.2_Silent_p.V867V|FILIP1L_uc003dtn.2_Silent_p.V867V|FILIP1L_uc003dtp.1_Silent_p.V867V	NM_182909	NP_878913	Q4L180	FIL1L_HUMAN	filamin A interacting protein 1-like isoform 1	1107						cytoplasm|membrane|myosin complex|nucleus				ovary(1)	1						TACTGCTGGTGACTTTATTGG	0.458		NaN											0	0	0	0.069456	0	37	153									
ZBTB11	27107	broad.mit.edu	37	3	101378715	101378715	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr3:101378715C>T	uc003dve.3	-	6	2188	c.1958G>A	c.(1957-1959)TGT>TAT	p.C653Y		NM_014415	NP_055230	O95625	ZBT11_HUMAN	zinc finger protein ZNF-U69274	653	C2H2-type 3.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(1)	1						ACATATGGAACATATAAATTC	0.413		NaN											0	0	0	0.049695	0	21	86									
GTPBP8	29083	broad.mit.edu	37	3	112709949	112709949	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr3:112709949G>A	uc003dzn.2	+	1	150	c.103G>A	c.(103-105)GAG>AAG	p.E35K	GTPBP8_uc011bhy.1_RNA|GTPBP8_uc003dzp.2_RNA|GTPBP8_uc003dzo.2_Missense_Mutation_p.E35K	NM_014170	NP_054889	Q8N3Z3	GTPB8_HUMAN	GTP-binding protein 8 isoform 1	35					barrier septum formation		GTP binding				0						AGCTTTTGCTGAGGTGCTGCG	0.632		NaN											0	0	0	0.0918	0	24	59									
IQCB1	9657	broad.mit.edu	37	3	121491405	121491405	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr3:121491405C>G	uc010hre.1	-	14	1781	c.1566G>C	c.(1564-1566)ATG>ATC	p.M522I	IQCB1_uc003eek.2_Missense_Mutation_p.M389I|IQCB1_uc010hrf.1_RNA	NM_001023570	NP_001018864	Q15051	IQCB1_HUMAN	IQ motif containing B1 isoform a	522					cilium assembly|maintenance of organ identity|photoreceptor cell maintenance	centrosome|photoreceptor connecting cilium	calmodulin binding				0				GBM - Glioblastoma multiforme(114;0.0983)		AGCACATACTCATTAGCTGTT	0.443		NaN											0	0	0	0.125774	0	25	103									
MUC13	56667	broad.mit.edu	37	3	124646788	124646788	+	Silent	SNP	C	C	G			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr3:124646788C>G	uc003ehq.1	-	2	126	c.102G>C	c.(100-102)GCG>GCC	p.A34A		NM_033049	NP_149038	Q9H3R2	MUC13_HUMAN	mucin 13, epithelial transmembrane	34	Thr-rich.|Extracellular (Potential).					extracellular region|integral to membrane|plasma membrane					0						GACCACTAGTCGCAGTTTCTG	0.453		NaN											0	0	0	0.0918	0	25	100									
COL6A6	131873	broad.mit.edu	37	3	130289928	130289928	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr3:130289928G>A	uc010htl.2	+	6	2699	c.2668G>A	c.(2668-2670)GAG>AAG	p.E890K		NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN	collagen type VI alpha 6 precursor	890	VWFA 5.|Nonhelical region.				axon guidance|cell adhesion	collagen				ovary(6)|central_nervous_system(1)|pancreas(1)	8						TTATACTGCTGAGGCACTGGG	0.537		NaN											0	0	0	0.009096	0	4	22									
CCDC39	339829	broad.mit.edu	37	3	180349347	180349347	+	Silent	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr3:180349347C>T	uc010hxe.2	-	14	2023	c.1908G>A	c.(1906-1908)GAG>GAA	p.E636E	CCDC39_uc003fkn.2_RNA	NM_181426	NP_852091	Q9UFE4	CCD39_HUMAN	coiled-coil domain containing 39	636					axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium axoneme|cytoplasm|cytoskeleton				ovary(4)	4	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			TCTTCAGCTTCTCAATTTTAC	0.338		NaN											0	0	0	0.108266	0	27	20									
MCCC1	56922	broad.mit.edu	37	3	182788887	182788887	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr3:182788887C>G	uc003fle.2	-	7	798	c.661G>C	c.(661-663)GAA>CAA	p.E221Q	MCCC1_uc010hxi.2_RNA|MCCC1_uc011bqo.1_RNA|MCCC1_uc003flf.2_Missense_Mutation_p.E104Q|MCCC1_uc003flg.2_Missense_Mutation_p.E112Q|MCCC1_uc011bqp.1_Missense_Mutation_p.E174Q|MCCC1_uc011bqq.1_Missense_Mutation_p.E112Q	NM_020166	NP_064551	Q96RQ3	MCCA_HUMAN	methylcrotonoyl-Coenzyme A carboxylase 1 (alpha)	221	Biotin carboxylation.|ATP-grasp.				biotin metabolic process|leucine catabolic process	mitochondrial inner membrane|mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|methylcrotonoyl-CoA carboxylase activity			ovary(1)|central_nervous_system(1)|skin(1)	3	all_cancers(143;1.84e-14)|Ovarian(172;0.0355)		all cancers(12;1.8e-44)|Epithelial(37;3.23e-38)|LUSC - Lung squamous cell carcinoma(7;5.04e-25)|Lung(8;5.03e-23)|OV - Ovarian serous cystadenocarcinoma(80;5.07e-21)		Biotin(DB00121)	AATTCTTGTTCTGATCTAACA	0.383		NaN											0	0	0	0.105934	0	12	58									
MCCC1	56922	broad.mit.edu	37	3	182789047	182789047	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr3:182789047C>G	uc003fle.2	-	6	727	c.590G>C	c.(589-591)AGA>ACA	p.R197T	MCCC1_uc010hxi.2_RNA|MCCC1_uc011bqo.1_RNA|MCCC1_uc003flf.2_Missense_Mutation_p.R80T|MCCC1_uc003flg.2_Missense_Mutation_p.R88T|MCCC1_uc011bqp.1_Missense_Mutation_p.R150T|MCCC1_uc011bqq.1_Missense_Mutation_p.R88T	NM_020166	NP_064551	Q96RQ3	MCCA_HUMAN	methylcrotonoyl-Coenzyme A carboxylase 1 (alpha)	197	Biotin carboxylation.|ATP-grasp.				biotin metabolic process|leucine catabolic process	mitochondrial inner membrane|mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|methylcrotonoyl-CoA carboxylase activity			ovary(1)|central_nervous_system(1)|skin(1)	3	all_cancers(143;1.84e-14)|Ovarian(172;0.0355)		all cancers(12;1.8e-44)|Epithelial(37;3.23e-38)|LUSC - Lung squamous cell carcinoma(7;5.04e-25)|Lung(8;5.03e-23)|OV - Ovarian serous cystadenocarcinoma(80;5.07e-21)		Biotin(DB00121)	ATAGCCAATTCTCCTGGCGTG	0.483		NaN											0	0	0	0.125774	0	30	75									
MCCC1	56922	broad.mit.edu	37	3	182790262	182790262	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr3:182790262C>G	uc003fle.2	-	5	520	c.383G>C	c.(382-384)GGA>GCA	p.G128A	MCCC1_uc010hxi.2_RNA|MCCC1_uc011bqo.1_RNA|MCCC1_uc003flf.2_Intron|MCCC1_uc003flg.2_Missense_Mutation_p.G19A|MCCC1_uc011bqp.1_Missense_Mutation_p.G81A|MCCC1_uc011bqq.1_Missense_Mutation_p.G19A	NM_020166	NP_064551	Q96RQ3	MCCA_HUMAN	methylcrotonoyl-Coenzyme A carboxylase 1 (alpha)	128	Biotin carboxylation.				biotin metabolic process|leucine catabolic process	mitochondrial inner membrane|mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|methylcrotonoyl-CoA carboxylase activity			ovary(1)|central_nervous_system(1)|skin(1)	3	all_cancers(143;1.84e-14)|Ovarian(172;0.0355)		all cancers(12;1.8e-44)|Epithelial(37;3.23e-38)|LUSC - Lung squamous cell carcinoma(7;5.04e-25)|Lung(8;5.03e-23)|OV - Ovarian serous cystadenocarcinoma(80;5.07e-21)		Biotin(DB00121)	AAAACCGCATCCTGGATGGAT	0.398		NaN											0	0	0	0.02938	0	7	39									
AHSG	197	broad.mit.edu	37	3	186337720	186337720	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr3:186337720C>G	uc003fqk.3	+	6	831	c.750C>G	c.(748-750)TTC>TTG	p.F250L	AHSG_uc003fql.3_Missense_Mutation_p.F251L|AHSG_uc003fqm.3_Missense_Mutation_p.F249L|AHSG_uc010hyp.2_Missense_Mutation_p.F213L	NM_001622	NP_001613	P02765	FETUA_HUMAN	alpha-2-HS-glycoprotein	250	Cystatin fetuin-A-type 2.				acute-phase response|negative regulation of bone mineralization|negative regulation of insulin receptor signaling pathway|pinocytosis|positive regulation of phagocytosis|regulation of inflammatory response|skeletal system development	extracellular space	cysteine-type endopeptidase inhibitor activity|protein binding				0	all_cancers(143;3.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.27e-20)	GBM - Glioblastoma multiforme(93;0.0463)		GCATGGTGTTCCAAACACAGG	0.458		NaN											0	0	0	0.038395	0	16	49									
TNK2	10188	broad.mit.edu	37	3	195594701	195594701	+	Nonsense_Mutation	SNP	G	G	C			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr3:195594701G>C	uc003fvu.1	-	12	2966	c.2423C>G	c.(2422-2424)TCA>TGA	p.S808*	TNK2_uc003fvq.1_Nonsense_Mutation_p.S215*|TNK2_uc003fvr.1_Nonsense_Mutation_p.S333*|TNK2_uc003fvs.1_Nonsense_Mutation_p.S840*|TNK2_uc003fvt.1_Nonsense_Mutation_p.S886*|TNK2_uc010hzw.1_RNA	NM_005781	NP_005772	Q07912	ACK1_HUMAN	tyrosine kinase, non-receptor, 2 isoform 1	808	Pro-rich.|EBD domain (By similarity).			Missing (in Ref. 4; AAH08884).	positive regulation of peptidyl-tyrosine phosphorylation|protein ubiquitination|small GTPase mediated signal transduction	adherens junction|cytoplasmic vesicle membrane|endosome|nucleus	ATP binding|GTPase inhibitor activity|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			ovary(3)|central_nervous_system(3)|lung(2)|stomach(1)|skin(1)	10	all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;0.000757)	Adenosine triphosphate(DB00171)	AGGTGAGCTTGAGAGCCGGGG	0.711		NaN											0	0	0	0.038147	0	7	41									
RGS12	6002	broad.mit.edu	37	4	3441290	3441290	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr4:3441290C>T	uc003ggw.2	+	18	5127	c.4223C>T	c.(4222-4224)GCT>GTT	p.A1408V	RGS12_uc003ggz.2_Missense_Mutation_p.A760V|RGS12_uc003gha.2_Missense_Mutation_p.A750V|RGS12_uc010icv.2_Missense_Mutation_p.A607V|HGFAC_uc003ghc.2_5'Flank|HGFAC_uc010icw.2_5'Flank	NM_198229	NP_937872	O14924	RGS12_HUMAN	regulator of G-protein signalling 12 isoform 1	1408						condensed nuclear chromosome|cytoplasm|plasma membrane	GTPase activator activity|receptor signaling protein activity			skin(1)	1				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		GGGGCACAGGCTGGCCCTGGG	0.662		NaN											0	0	0	0.021553	0	6	24									
DRD5	1816	broad.mit.edu	37	4	9784028	9784028	+	Silent	SNP	T	T	C	rs2227841	byFrequency	TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr4:9784028T>C	uc003gmb.3	+	1	771	c.375T>C	c.(373-375)ACT>ACC	p.T125T		NM_000798	NP_000789	P21918	DRD5_HUMAN	dopamine receptor D5	125	Helical; Name=3; (Potential).				activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic	integral to plasma membrane				skin(1)	1					Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)	TGTGCTCCACTGCCTCCATCC	0.622		NaN											0	0	0	0.115264	0	3	27									
C4orf19	55286	broad.mit.edu	37	4	37592524	37592524	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr4:37592524G>A	uc003gsw.3	+	4	1030	c.847G>A	c.(847-849)GGG>AGG	p.G283R	RELL1_uc003gsz.2_3'UTR|C4orf19_uc003gsy.3_Missense_Mutation_p.G283R	NM_001104629	NP_001098099	Q8IY42	CD019_HUMAN	hypothetical protein LOC55286	283											0						CGATGGAGATGGGGATGGGGA	0.532		NaN											0	0	0	0.139131	0	68	92									
EXOC1	55763	broad.mit.edu	37	4	56768625	56768625	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr4:56768625G>A	uc003hbe.1	+	18	2611	c.2453G>A	c.(2452-2454)GGA>GAA	p.G818E	EXOC1_uc003hbf.1_Missense_Mutation_p.G818E|EXOC1_uc003hbg.1_Missense_Mutation_p.G803E	NM_018261	NP_060731	Q9NV70	EXOC1_HUMAN	exocyst complex component 1 isoform 1	818					exocytosis|protein transport	exocyst	protein binding			ovary(2)|skin(2)|lung(1)|central_nervous_system(1)	6	Glioma(25;0.08)|all_neural(26;0.101)					GAGTACCCTGGAAAGGAAGTA	0.388		NaN											0	0	0	0.058154	0	10	46									
POLR2B	5431	broad.mit.edu	37	4	57860643	57860643	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr4:57860643C>T	uc003hcl.1	+	4	360	c.317C>T	c.(316-318)TCA>TTA	p.S106L	POLR2B_uc011cae.1_Missense_Mutation_p.S99L|POLR2B_uc011caf.1_Missense_Mutation_p.S31L	NM_000938	NP_000929	P30876	RPB2_HUMAN	DNA directed RNA polymerase II polypeptide B	106					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding			ovary(2)	2	Glioma(25;0.08)|all_neural(26;0.181)					GGTGCTCCTTCACCAATGATG	0.338		NaN											0	0	0	0.038147	0	8	24									
LPHN3	23284	broad.mit.edu	37	4	62845433	62845433	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr4:62845433C>G	uc010ihh.2	+	15	2927	c.2754C>G	c.(2752-2754)ATC>ATG	p.I918M	LPHN3_uc003hcq.3_Missense_Mutation_p.I918M|LPHN3_uc003hct.2_Missense_Mutation_p.I311M	NM_015236	NP_056051	Q9HAR2	LPHN3_HUMAN	latrophilin 3 precursor	905	Helical; Name=2; (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			lung(15)|ovary(1)|central_nervous_system(1)|pancreas(1)	18						ACCTCTGCATCAGTCTCTTTG	0.458		NaN											0	0	0	0.11911	0	13	184									
TET2	54790	broad.mit.edu	37	4	106156981	106156981	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr4:106156981G>A	uc003hxk.2	+	3	2268	c.1882G>A	c.(1882-1884)GAG>AAG	p.E628K	TET2_uc011cez.1_Missense_Mutation_p.E649K|TET2_uc003hxj.2_RNA|TET2_uc010ilp.1_Missense_Mutation_p.E628K|TET2_uc003hxi.1_Missense_Mutation_p.E628K	NM_001127208	NP_001120680	Q6N021	TET2_HUMAN	tet oncogene family member 2 isoform a	628	Gln-rich.				cell cycle|myeloid cell differentiation		metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.L590_H650del(1)		haematopoietic_and_lymphoid_tissue(732)|pancreas(1)	733		Myeloproliferative disorder(5;0.0393)		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)		AACACAGCTGGAGCACAAGTC	0.478		NaN	Mis N|F		MDS								0	0	0	0.014758	0	5	29									
KIAA1109	84162	broad.mit.edu	37	4	123277009	123277009	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr4:123277009G>C	uc003ieh.2	+	81	14409	c.14364G>C	c.(14362-14364)AAG>AAC	p.K4788N	KIAA1109_uc003iem.2_Missense_Mutation_p.K1144N	NM_015312	NP_056127	Q2LD37	K1109_HUMAN	fragile site-associated protein	4788					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				ovary(8)|skin(2)|pancreas(1)|central_nervous_system(1)	12						CTACTGTGAAGAATTCTAGTT	0.363		NaN											0	0	0	0.043863	0	19	29									
RXFP1	59350	broad.mit.edu	37	4	159547979	159547979	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr4:159547979G>A	uc003ipz.2	+	10	845	c.763G>A	c.(763-765)GAA>AAA	p.E255K	RXFP1_uc010iqj.1_Missense_Mutation_p.E84K|RXFP1_uc011cja.1_Intron|RXFP1_uc010iqo.2_Missense_Mutation_p.E255K|RXFP1_uc011cjb.1_Missense_Mutation_p.E201K|RXFP1_uc010iqk.2_Missense_Mutation_p.E123K|RXFP1_uc011cjc.1_Missense_Mutation_p.E174K|RXFP1_uc011cjd.1_Missense_Mutation_p.E174K|RXFP1_uc010iql.2_Intron|RXFP1_uc011cje.1_Missense_Mutation_p.E282K|RXFP1_uc010iqm.2_Missense_Mutation_p.E222K|RXFP1_uc011cjf.1_Missense_Mutation_p.E125K|RXFP1_uc010iqn.2_Missense_Mutation_p.E201K	NM_021634	NP_067647	Q9HBX9	RXFP1_HUMAN	relaxin/insulin-like family peptide receptor 1	255	Extracellular (Potential).|LRR 5.					integral to membrane|plasma membrane	G-protein coupled receptor activity|metal ion binding				0	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.0219)		CAGGGACCTTGAAGGCAACCA	0.264		NaN											0	0	0	0.069234	0	10	14									
KIAA0947	23379	broad.mit.edu	37	5	5489267	5489267	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr5:5489267C>T	uc003jdm.3	+	19	6847	c.6625C>T	c.(6625-6627)CCA>TCA	p.P2209S		NM_015325	NP_056140	Q9Y2F5	K0947_HUMAN	hypothetical protein LOC23379	2209										ovary(1)|central_nervous_system(1)	2						TTCAGATATACCATGGGGTAT	0.383		NaN											0	0	0	0.038147	0	7	42									
ADAMTS12	81792	broad.mit.edu	37	5	33683979	33683979	+	Silent	SNP	G	G	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr5:33683979G>A	uc003jia.1	-	4	979	c.816C>T	c.(814-816)CTC>CTT	p.L272L	ADAMTS12_uc010iuq.1_Silent_p.L272L	NM_030955	NP_112217	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1	272	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)	9						TCATGATGGTGAGGATGTAGG	0.468		NaN								HNSCC(64;0.19)			0	0	0	0.050027	0	30	83									
MCTP1	79772	broad.mit.edu	37	5	94248593	94248593	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr5:94248593C>T	uc003kkx.2	-	9	1439	c.1439G>A	c.(1438-1440)AGA>AAA	p.R480K	MCTP1_uc003kkv.2_Missense_Mutation_p.R259K|MCTP1_uc003kkw.2_Missense_Mutation_p.R213K|MCTP1_uc003kkz.2_Missense_Mutation_p.R141K|MCTP1_uc003kku.2_5'UTR	NM_024717	NP_078993	Q6DN14	MCTP1_HUMAN	multiple C2 domains, transmembrane 1 isoform L	480	C2 2.				calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			ovary(2)	2		all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207)		all cancers(79;9.1e-17)		CTTGAGGTCTCTCCCTTCAAT	0.468		NaN											0	0	0	0.139131	0	56	39									
RGMB	285704	broad.mit.edu	37	5	98115321	98115321	+	Silent	SNP	A	A	G			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr5:98115321A>G	uc003knc.2	+	4	699	c.297A>G	c.(295-297)AAA>AAG	p.K99K	RGMB_uc003knb.2_Silent_p.K99K	NM_001012761	NP_001012779	Q6NW40	RGMB_HUMAN	RGM domain family, member B	58					axon guidance|BMP signaling pathway|cell adhesion|positive regulation of transcription, DNA-dependent	anchored to plasma membrane|ER-Golgi intermediate compartment|membrane raft	identical protein binding				0		all_cancers(142;2.76e-08)|all_epithelial(76;2.98e-11)|all_lung(232;0.000485)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0587)		GAATCCAGAAATGCACCACGG	0.493		NaN											0	0	0	0.139131	0	91	82									
RAD50	10111	broad.mit.edu	37	5	131925368	131925368	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr5:131925368G>C	uc003kxi.2	+	9	1678	c.1291G>C	c.(1291-1293)GAG>CAG	p.E431Q	RAD50_uc003kxh.2_Missense_Mutation_p.E292Q	NM_005732	NP_005723	Q92878	RAD50_HUMAN	RAD50 homolog isoform 1	431	Potential.				DNA duplex unwinding|double-strand break repair via homologous recombination|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|telomere maintenance via telomerase	Mre11 complex|nuclear chromosome, telomeric region|nucleoplasm	ATP binding|DNA binding|nuclease activity|protein binding, bridging|zinc ion binding			lung(2)|ovary(1)|skin(1)	4		all_cancers(142;0.0368)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			ACAGATAGATGAGATAAGAGA	0.284		NaN						Homologous_recombination					0	0	0	0.038147	0	7	20									
RAD50	10111	broad.mit.edu	37	5	131925439	131925439	+	Silent	SNP	G	G	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr5:131925439G>A	uc003kxi.2	+	9	1749	c.1362G>A	c.(1360-1362)CAG>CAA	p.Q454Q	RAD50_uc003kxh.2_Silent_p.Q315Q	NM_005732	NP_005723	Q92878	RAD50_HUMAN	RAD50 homolog isoform 1	454	Potential.				DNA duplex unwinding|double-strand break repair via homologous recombination|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|telomere maintenance via telomerase	Mre11 complex|nuclear chromosome, telomeric region|nucleoplasm	ATP binding|DNA binding|nuclease activity|protein binding, bridging|zinc ion binding			lung(2)|ovary(1)|skin(1)	4		all_cancers(142;0.0368)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GTAAGAAGCAGAATGAGCTGA	0.353		NaN						Homologous_recombination					0	0	0	0.080935	0	10	18									
RAD50	10111	broad.mit.edu	37	5	131925448	131925448	+	Silent	SNP	G	G	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr5:131925448G>A	uc003kxi.2	+	9	1758	c.1371G>A	c.(1369-1371)CTG>CTA	p.L457L	RAD50_uc003kxh.2_Silent_p.L318L	NM_005732	NP_005723	Q92878	RAD50_HUMAN	RAD50 homolog isoform 1	457	Potential.				DNA duplex unwinding|double-strand break repair via homologous recombination|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|telomere maintenance via telomerase	Mre11 complex|nuclear chromosome, telomeric region|nucleoplasm	ATP binding|DNA binding|nuclease activity|protein binding, bridging|zinc ion binding			lung(2)|ovary(1)|skin(1)	4		all_cancers(142;0.0368)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			AGAATGAGCTGAAAAATGTGA	0.343		NaN						Homologous_recombination					0	0	0	0.080935	0	10	21									
RAD50	10111	broad.mit.edu	37	5	131925479	131925479	+	Missense_Mutation	SNP	G	G	A	rs145031602	byFrequency	TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr5:131925479G>A	uc003kxi.2	+	9	1789	c.1402G>A	c.(1402-1404)GAA>AAA	p.E468K	RAD50_uc003kxh.2_Missense_Mutation_p.E329K	NM_005732	NP_005723	Q92878	RAD50_HUMAN	RAD50 homolog isoform 1	468	Potential.				DNA duplex unwinding|double-strand break repair via homologous recombination|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|telomere maintenance via telomerase	Mre11 complex|nuclear chromosome, telomeric region|nucleoplasm	ATP binding|DNA binding|nuclease activity|protein binding, bridging|zinc ion binding			lung(2)|ovary(1)|skin(1)	4		all_cancers(142;0.0368)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			ACAGCAGTTGGAAGGATCTTC	0.318		NaN						Homologous_recombination					0	0	0	0.132662	0	11	18									
SIL1	64374	broad.mit.edu	37	5	138386694	138386694	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr5:138386694G>A	uc003ldm.2	-	3	303	c.286C>T	c.(286-288)CAG>TAG	p.Q96*	SIL1_uc003ldn.2_Nonsense_Mutation_p.Q95*|SIL1_uc003ldo.2_Nonsense_Mutation_p.Q96*|SIL1_uc003ldp.2_Nonsense_Mutation_p.Q96*	NM_022464	NP_071909	Q9H173	SIL1_HUMAN	SIL1 protein precursor	96	Interaction with HSPA5 and localization to the endoplasmic reticulum (By similarity).				intracellular protein transport|protein folding|transmembrane transport	endoplasmic reticulum lumen	unfolded protein binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			TCCCCAGTCTGAAGATTCAGC	0.493		NaN							Marinesco-Sj_gren_syndrome				0	0	0	0.139131	0	47	82									
PCDHGA1	56114	broad.mit.edu	37	5	140711698	140711698	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr5:140711698G>A	uc003lji.1	+	1	1447	c.1447G>A	c.(1447-1449)GAG>AAG	p.E483K	PCDHGA1_uc011dan.1_Missense_Mutation_p.E483K	NM_018912	NP_061735	Q9Y5H4	PCDG1_HUMAN	protocadherin gamma subfamily A, 1 isoform 1	483	Extracellular (Potential).|Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(1)|breast(1)|pancreas(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGACAGCAATGAGAATGCACA	0.537		NaN											0	0	0	0.092188	0	39	97									
PCDHGA5	56110	broad.mit.edu	37	5	140745310	140745310	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr5:140745310C>G	uc003lju.1	+	1	1413	c.1413C>G	c.(1411-1413)ATC>ATG	p.I471M	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_uc011das.1_Missense_Mutation_p.I471M	NM_018918	NP_061741	Q9Y5G8	PCDG5_HUMAN	protocadherin gamma subfamily A, 5 isoform 1	471	Extracellular (Potential).|Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(4)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGTCTCTATCTTCTCTGTGA	0.542		NaN											0	0	0	0.054565	0	33	120									
PCDHGA8	9708	broad.mit.edu	37	5	140772943	140772943	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr5:140772943G>C	uc003lkd.1	+	1	1461	c.563G>C	c.(562-564)GGA>GCA	p.G188A	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkb.3_Missense_Mutation_p.G188A	NM_032088	NP_114477	Q9Y5G5	PCDG8_HUMAN	protocadherin gamma subfamily A, 8 isoform 1	188	Extracellular (Potential).|Cadherin 2.				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)			GGAGACAATGGAGCCATAAAC	0.632		NaN											0	0	0	0.080935	0	12	32									
PECI	10455	broad.mit.edu	37	6	4131046	4131046	+	Silent	SNP	G	G	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr6:4131046G>A	uc003mwf.2	-	3	304	c.267C>T	c.(265-267)AAC>AAT	p.N89N	PECI_uc003mwc.2_5'UTR|PECI_uc003mwd.2_Silent_p.N59N|PECI_uc003mwe.2_5'UTR|PECI_uc010jnr.1_RNA	NM_206836	NP_996667	O75521	ECI2_HUMAN	peroxisomal D3,D2-enoyl-CoA isomerase isoform 2	89	ACB.				fatty acid metabolic process	mitochondrion|peroxisomal matrix	dodecenoyl-CoA delta-isomerase activity|fatty-acyl-CoA binding				0	Ovarian(93;0.0925)	all_hematologic(90;0.0895)				ATTTGGCCTTGTTGATCAAGT	0.448		NaN											0	0	0	0.117977	0	39	139									
DSP	1832	broad.mit.edu	37	6	7583321	7583321	+	Silent	SNP	C	C	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr6:7583321C>A	uc003mxp.1	+	24	6105	c.5826C>A	c.(5824-5826)CTC>CTA	p.L1942L	DSP_uc003mxq.1_Silent_p.L1343L	NM_004415	NP_004406	P15924	DESP_HUMAN	desmoplakin isoform I	1942	Central fibrous rod domain.|Potential.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			central_nervous_system(6)|ovary(2)|skin(1)	9	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		TTGATAAACTCAGACAGCGCC	0.522		NaN											1	0	8.24728e-16	0.099896	9.79503e-16	26	52									
HIVEP1	3096	broad.mit.edu	37	6	12123020	12123020	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr6:12123020G>A	uc003nac.2	+	4	3171	c.2992G>A	c.(2992-2994)GAG>AAG	p.E998K	HIVEP1_uc011diq.1_RNA	NM_002114	NP_002105	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer	998					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1)	6	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				GAGAGAACCTGAGCACAGCCC	0.463		NaN											0	0	0	0.038147	0	7	209									
NOL7	51406	broad.mit.edu	37	6	13620657	13620657	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr6:13620657C>T	uc003naz.2	+	7	672	c.640C>T	c.(640-642)CTT>TTT	p.L214F		NM_016167	NP_057251	Q9UMY1	NOL7_HUMAN	nucleolar protein 7, 27kDa	214						mitochondrion|nucleolus					0	Breast(50;0.00669)|Ovarian(93;0.0634)	all_hematologic(90;0.135)	Epithelial(50;0.176)			GTTCCTGTCTCTTGCCAACAA	0.333		NaN											0	0	0	0.038395	0	15	53									
CAP2	10486	broad.mit.edu	37	6	17426839	17426839	+	Missense_Mutation	SNP	A	A	G			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr6:17426839A>G	uc003ncb.2	+	3	383	c.140A>G	c.(139-141)GAA>GGA	p.E47G	CAP2_uc010jpk.1_RNA|CAP2_uc011dja.1_Missense_Mutation_p.E47G|CAP2_uc011djb.1_Missense_Mutation_p.E47G|CAP2_uc011djc.1_Missense_Mutation_p.E47G|CAP2_uc011djd.1_Missense_Mutation_p.E47G	NM_006366	NP_006357	P40123	CAP2_HUMAN	adenylyl cyclase-associated protein 2	47					activation of adenylate cyclase activity|axon guidance|cytoskeleton organization|establishment or maintenance of cell polarity|signal transduction	plasma membrane	actin binding			ovary(1)	1	Breast(50;0.0333)|Ovarian(93;0.0386)	all_hematologic(90;0.0466)	all cancers(50;0.194)|Epithelial(50;0.227)			CCCTCCGTGGAAGCCTTTGAC	0.448		NaN											0	0	0	0.059317	0	30	56									
TRIM38	10475	broad.mit.edu	37	6	25972225	25972225	+	Silent	SNP	G	G	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr6:25972225G>A	uc003nfm.2	+	5	1071	c.636G>A	c.(634-636)CTG>CTA	p.L212L	TRIM38_uc003nfn.2_Silent_p.L194L|TRIM38_uc010jqd.2_5'Flank	NM_006355	NP_006346	O00635	TRI38_HUMAN	tripartite motif-containing 38	212					positive regulation of I-kappaB kinase/NF-kappaB cascade	intracellular	signal transducer activity|zinc ion binding				0						TGAGTAGACTGAGGGACTATG	0.488		NaN											0	0	0	0.144211	0	32	58									
HIST1H3B	8358	broad.mit.edu	37	6	26031885	26031885	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr6:26031885C>G	uc003nfs.1	-	1	404	c.404G>C	c.(403-405)AGA>ACA	p.R135T		NM_003537	NP_003528	P68431	H31_HUMAN	histone cluster 1, H3b	135				Missing (in Ref. 2; AAA52651).	blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding			ovary(2)	2						CATTTACGCTCTTTCTCCGCG	0.453		NaN											0	0	0	0.049695	0	20	71									
HIST1H2BC	8347	broad.mit.edu	37	6	26123851	26123851	+	Silent	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr6:26123851C>T	uc003ngk.3	-	1	304	c.282G>A	c.(280-282)GAG>GAA	p.E94E	HIST1H2BC_uc003ngl.2_Silent_p.E94E|HIST1H2AC_uc003ngm.2_5'Flank|HIST1H2AC_uc003ngn.2_5'Flank|HIST1H2AC_uc003ngo.2_5'Flank|HIST1H2AC_uc003ngp.2_5'Flank	NM_003526	NP_003517	P62807	H2B1C_HUMAN	histone cluster 1, H2bc	94					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding			ovary(1)	1						CCGTCTGGATCTCCCTGGAGG	0.597		NaN											0	0	0	0.083992	0	24	153									
GABBR1	2550	broad.mit.edu	37	6	29576387	29576387	+	Silent	SNP	G	G	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr6:29576387G>A	uc003nmt.3	-	16	2319	c.1983C>T	c.(1981-1983)TTC>TTT	p.F661F	GABBR1_uc003nmp.3_Silent_p.F544F|GABBR1_uc003nms.3_Silent_p.F544F|GABBR1_uc003nmu.3_Silent_p.F599F|GABBR1_uc011dlr.1_Silent_p.F484F|GABBR1_uc011dls.1_3'UTR	NM_001470	NP_001461	Q9UBS5	GABR1_HUMAN	gamma-aminobutyric acid (GABA) B receptor 1	661	Extracellular (Potential).				gamma-aminobutyric acid signaling pathway|negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|extracellular region|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity			ovary(5)|liver(1)|skin(1)	7					Baclofen(DB00181)|Progabide(DB00837)	CCTGGCAGACGAAAGGAAACT	0.547		NaN											0	0	0	0.132662	0	15	73									
LSM2	57819	broad.mit.edu	37	6	31766264	31766264	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr6:31766264G>A	uc003nxg.2	-	3	301	c.92C>T	c.(91-93)TCT>TTT	p.S31F	VARS_uc003nxe.2_5'Flank|VARS_uc011doi.1_5'Flank	NM_021177	NP_067000	Q9Y333	LSM2_HUMAN	LSM2 homolog, U6 small nuclear RNA associated	31					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|cytosol|nucleoplasm	U6 snRNA binding				0						CTGATCCACAGAATGGAGGGT	0.473		NaN											0	0	0	0.125774	0	28	55									
EHMT2	10919	broad.mit.edu	37	6	31847893	31847893	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr6:31847893C>G	uc003nxz.1	-	28	3611	c.3601G>C	c.(3601-3603)GAG>CAG	p.E1201Q	EHMT2_uc003nxv.1_Missense_Mutation_p.E240Q|EHMT2_uc003nxw.1_Missense_Mutation_p.E240Q|EHMT2_uc003nxx.1_Missense_Mutation_p.E399Q|EHMT2_uc003nxy.1_Missense_Mutation_p.E999Q|EHMT2_uc011don.1_Missense_Mutation_p.E1224Q|EHMT2_uc003nya.1_Missense_Mutation_p.E1167Q|SLC44A4_uc010jti.2_5'Flank|SLC44A4_uc011dol.1_5'Flank|SLC44A4_uc011dom.1_5'Flank	NM_006709	NP_006700	Q96KQ7	EHMT2_HUMAN	euchromatic histone-lysine N-methyltransferase 2	1201					DNA methylation|peptidyl-lysine dimethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding			ovary(1)	1						GAGCCGAGCTCGGGCAGCAGC	0.652		NaN											0	0	0	0.014758	0	5	45									
ZBTB12	221527	broad.mit.edu	37	6	31867740	31867740	+	Missense_Mutation	SNP	T	T	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr6:31867740T>A	uc003nyd.1	-	2	1519	c.1343A>T	c.(1342-1344)GAG>GTG	p.E448V	EHMT2_uc011don.1_5'Flank|EHMT2_uc003nxz.1_5'Flank|EHMT2_uc003nya.1_5'Flank|EHMT2_uc003nyb.1_5'Flank|C2_uc003nyc.2_Intron|C2_uc011doo.1_Intron|C2_uc011dop.1_5'Flank	NM_181842	NP_862825	Q9Y330	ZBT12_HUMAN	zinc finger and BTB domain containing 12	448					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						CACACTGGCCTCCAGCACGTT	0.652		NaN											0	0	0	0.045705	0	30	42									
C6orf10	10665	broad.mit.edu	37	6	32261160	32261160	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr6:32261160C>G	uc011dpy.1	-	12	1463	c.1290G>C	c.(1288-1290)AAG>AAC	p.K430N	C6orf10_uc011dpx.1_Missense_Mutation_p.K212N	NM_006781	NP_006772	Q5SRN2	CF010_HUMAN	chromosome 6 open reading frame 10	430						integral to membrane				skin(1)	1						CTGCCTCAGTCTTCTCTACTT	0.468		NaN											0	0	0	0.069456	0	39	213									
C6orf10	10665	broad.mit.edu	37	6	32261600	32261600	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr6:32261600C>G	uc011dpy.1	-	12	1023	c.850G>C	c.(850-852)GAG>CAG	p.E284Q	C6orf10_uc011dpx.1_Missense_Mutation_p.E66Q	NM_006781	NP_006772	Q5SRN2	CF010_HUMAN	chromosome 6 open reading frame 10	284						integral to membrane				skin(1)	1						TTGTCTTTCTCTAAATCAGTG	0.388		NaN											0	0	0	0.038147	0	8	280									
ZBTB22	9278	broad.mit.edu	37	6	33283569	33283569	+	Silent	SNP	G	G	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr6:33283569G>A	uc003oeb.2	-	2	1277	c.1125C>T	c.(1123-1125)GTC>GTT	p.V375V	TAPBP_uc003odx.1_5'Flank|TAPBP_uc010jus.1_5'Flank|TAPBP_uc003ody.2_5'Flank|TAPBP_uc003odz.2_5'Flank|TAPBP_uc010jut.1_5'Flank|TAPBP_uc011drc.1_5'Flank|ZBTB22_uc010juu.2_Silent_p.V375V	NM_005453	NP_005444	O15209	ZBT22_HUMAN	zinc finger and BTB domain containing 22	375					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						CACAGAAGTTGACCTGCTCCT	0.602		NaN											0	0	0	0.125774	0	28	131									
C6orf222	389384	broad.mit.edu	37	6	36298448	36298448	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr6:36298448G>C	uc003oly.2	-	2	198	c.20C>G	c.(19-21)CCA>CGA	p.P7R		NM_001010903	NP_001010903	P0C671	CF222_HUMAN	hypothetical protein LOC389384	7										skin(2)|ovary(1)|breast(1)	4						GGGCCTCCTTGGGCACCTTGG	0.478		NaN											0	0	0	0.11911	0	12	80									
DNAH8	1769	broad.mit.edu	37	6	38840895	38840895	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr6:38840895C>G	uc003ooe.1	+	49	7400	c.6800C>G	c.(6799-6801)TCT>TGT	p.S2267C		NM_001371	NP_001362			dynein, axonemal, heavy polypeptide 8											skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	21						ATCAGCAGCTCTGCTCTCAGC	0.502		NaN											0	0	0	0.083992	0	22	94									
TCTE1	202500	broad.mit.edu	37	6	44254253	44254253	+	Silent	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr6:44254253C>T	uc003oxi.2	-	3	450	c.294G>A	c.(292-294)AAG>AAA	p.K98K	SPATS1_uc003oxg.2_Intron|TMEM151B_uc003oxf.2_Intron	NM_182539	NP_872345	Q5JU00	TCTE1_HUMAN	t-complex-associated testis expressed 1	98										ovary(2)|skin(2)	4	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			GGAGCATCTGCTTCAGGATAG	0.582		NaN											0	0	0	0.049695	0	20	112									
SNAP91	9892	broad.mit.edu	37	6	84303326	84303326	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr6:84303326G>C	uc011dze.1	-	17	1884	c.1567C>G	c.(1567-1569)CCT>GCT	p.P523A	SNAP91_uc011dzd.1_Missense_Mutation_p.P26A|SNAP91_uc003pkb.2_Missense_Mutation_p.P486A|SNAP91_uc003pkc.2_Missense_Mutation_p.P521A|SNAP91_uc003pkd.2_Intron|SNAP91_uc003pka.2_Missense_Mutation_p.P521A	NM_014841	NP_055656	O60641	AP180_HUMAN	synaptosomal-associated protein, 91kDa homolog	523	Ala-rich.				clathrin coat assembly	clathrin coat|coated pit|plasma membrane	1-phosphatidylinositol binding|clathrin binding			ovary(1)	1		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0967)		gcaggagaaggagcagTTGCG	0.264		NaN											0	0	0	0.014758	0	3	6									
AIM1	202	broad.mit.edu	37	6	106968294	106968294	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr6:106968294C>G	uc003prh.2	+	2	2474	c.1987C>G	c.(1987-1989)CAA>GAA	p.Q663E		NM_001624	NP_001615	Q9Y4K1	AIM1_HUMAN	absent in melanoma 1	663							sugar binding			breast(4)|ovary(2)|upper_aerodigestive_tract(1)|large_intestine(1)|skin(1)	9	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)		AGCCACTCCTCAAAGGCCAGA	0.493		NaN											0	0	0	0.146539	0	16	68									
RFX6	222546	broad.mit.edu	37	6	117241560	117241560	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr6:117241560C>G	uc003pxm.2	+	12	1333	c.1270C>G	c.(1270-1272)CAA>GAA	p.Q424E		NM_173560	NP_775831	Q8HWS3	RFX6_HUMAN	regulatory factor X, 6	424					glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	protein binding|transcription regulatory region DNA binding			ovary(1)|pancreas(1)|skin(1)	3						CATTGGCTCTCAAGCCCTTCT	0.383		NaN											0	0	0	0.108266	0	27	123									
C6orf204	387119	broad.mit.edu	37	6	118845073	118845073	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr6:118845073C>G	uc003pxz.1	-	4	1619	c.1031G>C	c.(1030-1032)GGA>GCA	p.G344A	C6orf204_uc003pya.1_Missense_Mutation_p.G347A|C6orf204_uc003pyb.2_Missense_Mutation_p.G344A|C6orf204_uc011ebj.1_Missense_Mutation_p.G242A|C6orf204_uc003pyc.2_Missense_Mutation_p.G347A	NM_001042475	NP_001035940	Q5SZL2	CF204_HUMAN	chromosome 6 open reading frame 204 isoform a	344						centrosome				breast(1)	1		all_cancers(87;0.0814)|all_epithelial(87;0.115)		GBM - Glioblastoma multiforme(226;0.0114)|all cancers(137;0.035)|OV - Ovarian serous cystadenocarcinoma(136;0.0618)		ACGAGATGATCCAGTCAAAAC	0.269		NaN											0	0	0	0.062417	0	18	77									
MAP7	9053	broad.mit.edu	37	6	136667001	136667001	+	Silent	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr6:136667001C>T	uc003qgz.2	-	17	2478	c.2232G>A	c.(2230-2232)CAG>CAA	p.Q744Q	MAP7_uc011edf.1_Silent_p.Q729Q|MAP7_uc011edg.1_Silent_p.Q774Q|MAP7_uc010kgu.2_Silent_p.Q766Q|MAP7_uc011edh.1_Silent_p.Q729Q|MAP7_uc010kgv.2_Silent_p.Q766Q|MAP7_uc010kgs.2_Silent_p.Q598Q|MAP7_uc011edi.1_Silent_p.Q598Q|MAP7_uc010kgq.1_Silent_p.Q650Q|MAP7_uc003qha.1_Silent_p.Q707Q	NM_003980	NP_003971	Q14244	MAP7_HUMAN	microtubule-associated protein 7	744					establishment or maintenance of cell polarity|microtubule cytoskeleton organization|protein localization in plasma membrane|response to osmotic stress	basolateral plasma membrane|microtubule|microtubule associated complex|nucleus|perinuclear region of cytoplasm	receptor binding|structural molecule activity				0	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00199)|OV - Ovarian serous cystadenocarcinoma(155;0.00643)		TACCTGCAGTCTGCTGTGTCT	0.488		NaN											0	0	0	0.047766	0	8	31									
MTRF1L	54516	broad.mit.edu	37	6	153316427	153316427	+	Nonsense_Mutation	SNP	C	C	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr6:153316427C>A	uc003qpi.3	-	3	472	c.367G>T	c.(367-369)GAA>TAA	p.E123*	MTRF1L_uc003qpl.3_Nonsense_Mutation_p.E123*|MTRF1L_uc011efa.1_Nonsense_Mutation_p.E123*|MTRF1L_uc003qpj.3_5'UTR|MTRF1L_uc003qpk.3_Nonsense_Mutation_p.E123*	NM_019041	NP_061914	Q9UGC7	RF1ML_HUMAN	mitochondrial translational release factor	123						mitochondrion	translation release factor activity, codon specific				0		Ovarian(120;0.125)		OV - Ovarian serous cystadenocarcinoma(155;4.24e-10)|BRCA - Breast invasive adenocarcinoma(81;0.0888)		TCATCTGTTTCTTCTGAGGGA	0.294		NaN											1	0	0.00198382	0.02938	0.00224765	5	18									
IGF2R	3482	broad.mit.edu	37	6	160431725	160431725	+	Missense_Mutation	SNP	C	C	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr6:160431725C>A	uc003qta.2	+	4	569	c.421C>A	c.(421-423)CCT>ACT	p.P141T		NM_000876	NP_000867	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor precursor	141	1.|Lumenal (Potential).				receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity			ovary(3)	3		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)		ATAGGGAACTCCTGAATTTGT	0.333		NaN											1	0	9.70103e-10	0.069234	1.13094e-09	9	33									
MAP3K4	4216	broad.mit.edu	37	6	161527688	161527688	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr6:161527688C>G	uc003qtn.2	+	20	4141	c.3999C>G	c.(3997-3999)CAC>CAG	p.H1333Q	MAP3K4_uc010kkc.1_Missense_Mutation_p.H1329Q|MAP3K4_uc003qto.2_Missense_Mutation_p.H1283Q|MAP3K4_uc011efz.1_RNA|MAP3K4_uc011ega.1_Missense_Mutation_p.H786Q|MAP3K4_uc003qtp.2_Missense_Mutation_p.H269Q|MAP3K4_uc003qtq.2_Missense_Mutation_p.H22Q	NM_005922	NP_005913	Q9Y6R4	M3K4_HUMAN	mitogen-activated protein kinase kinase kinase 4	1333					activation of MAPKK activity|JNK cascade|positive regulation of JUN kinase activity	perinuclear region of cytoplasm	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding			ovary(3)|lung(3)|skin(2)|stomach(1)	9		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		ATGTTATGCACGTTGGCTTGA	0.398		NaN											0	0	0	0.014758	0	4	47									
RADIL	55698	broad.mit.edu	37	7	4917471	4917471	+	Nonsense_Mutation	SNP	G	G	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr7:4917471G>T	uc003snj.1	-	2	473	c.300C>A	c.(298-300)TAC>TAA	p.Y100*	RADIL_uc003sng.1_RNA|RADIL_uc011jwd.1_RNA	NM_018059	NP_060529	Q96JH8	RADIL_HUMAN	Rap GTPase interactor	100	Ras-associating.				cell adhesion|multicellular organismal development|signal transduction		protein binding			lung(2)|central_nervous_system(2)|pancreas(2)|breast(1)	7		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15)		GGTCCAGGGCGTACCGCTCCA	0.682		NaN											1	0	2.61681e-11	0.11911	3.08311e-11	14	95									
DNAH11	8701	broad.mit.edu	37	7	21920409	21920409	+	Silent	SNP	G	G	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr7:21920409G>A	uc003svc.2	+	76	12337	c.12306G>A	c.(12304-12306)CTG>CTA	p.L4102L		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	4102	AAA 6 (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1)	15						CTGGGAGACTGAGGTTTGGCC	0.478		NaN							Kartagener_syndrome				0	0	0	0.092188	0	39	117									
MGC87042	256227	broad.mit.edu	37	7	22533267	22533267	+	Silent	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr7:22533267C>T	uc003svh.2	-	3	313	c.216G>A	c.(214-216)CTG>CTA	p.L72L	MGC87042_uc010kum.1_Silent_p.L91L			Q6NZ63	STEAL_HUMAN	SubName: Full=cDNA FLJ60218, highly similar to Six transmembrane epithelial antigen ofprostate 1;	72	Helical; (Potential).					integral to membrane	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity				0						TTACTTCCCTCAGAAGAGTGT	0.403		NaN											0	0	0	0.132662	0	12	86									
C7orf30	115416	broad.mit.edu	37	7	23349004	23349004	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr7:23349004G>C	uc003swd.1	+	4	579	c.547G>C	c.(547-549)GAA>CAA	p.E183Q	C7orf30_uc003swe.2_RNA	NM_138446	NP_612455	Q96EH3	CG030_HUMAN	hypothetical protein LOC115416	183						mitochondrion					0			GBM - Glioblastoma multiforme(13;0.154)			GATGCTTCCAGAAACCAGAGA	0.388		NaN											0	0	0	0.043863	0	18	93									
PPP1R9A	55607	broad.mit.edu	37	7	94919414	94919414	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr7:94919414G>A	uc003unp.2	+	16	3378	c.3096G>A	c.(3094-3096)ATG>ATA	p.M1032I	PPP1R9A_uc010lfj.2_Missense_Mutation_p.M1308I|PPP1R9A_uc011kif.1_Missense_Mutation_p.M1230I|PPP1R9A_uc003unq.2_Missense_Mutation_p.M1187I|PPP1R9A_uc011kig.1_Missense_Mutation_p.M1024I|PPP1R9A_uc003unr.2_Missense_Mutation_p.M321I	NM_017650	NP_060120	Q9ULJ8	NEB1_HUMAN	protein phosphatase 1, regulatory (inhibitor)	1032	Interacts with TGN38 (By similarity).|SAM.					cell junction|synapse|synaptosome	actin binding			ovary(2)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	4	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		STAD - Stomach adenocarcinoma(171;0.0031)			CTCTTGGAATGACAGCATCCC	0.413		NaN								HNSCC(28;0.073)			0	0	0	0.080935	0	11	51									
LAMB4	22798	broad.mit.edu	37	7	107674733	107674733	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr7:107674733G>C	uc010ljo.1	-	31	4822	c.4738C>G	c.(4738-4740)CAA>GAA	p.Q1580E	LAMB4_uc003vey.2_Missense_Mutation_p.Q1580E|LAMB4_uc010ljp.1_Missense_Mutation_p.Q549E	NM_007356	NP_031382	A4D0S4	LAMB4_HUMAN	laminin, beta 4 precursor	1580	Potential.|Domain I.				cell adhesion	basement membrane				ovary(4)|breast(2)|large_intestine(1)|skin(1)	8						TGAGTGATTTGAGCTTGTTGT	0.328		NaN											0	0	0	0.11126	0	42	81									
POT1	25913	broad.mit.edu	37	7	124503594	124503594	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr7:124503594G>A	uc003vlm.2	-	8	957	c.356C>T	c.(355-357)TCA>TTA	p.S119L	POT1_uc011koe.1_RNA|POT1_uc003vlk.2_RNA|POT1_uc003vll.2_RNA|POT1_uc003vlo.2_5'UTR|POT1_uc003vln.2_RNA	NM_015450	NP_056265	Q9NUX5	POTE1_HUMAN	protection of telomeres 1 isoform 1	119					DNA duplex unwinding|negative regulation of telomere maintenance via telomerase|positive regulation of DNA strand elongation|positive regulation of helicase activity|positive regulation of telomerase activity|positive regulation of telomere maintenance via telomerase|telomere capping|telomere formation via telomerase|telomere maintenance via telomerase	nuclear telomere cap complex|nucleoplasm	DEAD/H-box RNA helicase binding|single-stranded telomeric DNA binding|telomerase inhibitor activity			central_nervous_system(1)	1						ATACTTGCTTGAAGTGCGAGG	0.423		NaN											0	0	0	0.105934	0	14	102									
NUP205	23165	broad.mit.edu	37	7	135262738	135262738	+	Silent	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr7:135262738C>T	uc003vsw.2	+	6	874	c.843C>T	c.(841-843)ATC>ATT	p.I281I	NUP205_uc011kqa.1_RNA	NM_015135	NP_055950	Q92621	NU205_HUMAN	nucleoporin 205kDa	281					carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			ovary(3)|breast(1)|central_nervous_system(1)|skin(1)	6						GTTTTGATATCAGTTTTATAG	0.363		NaN											0	0	0	0.069234	0	10	52									
OR6B1	135946	broad.mit.edu	37	7	143701978	143701978	+	Nonsense_Mutation	SNP	G	G	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr7:143701978G>T	uc003wdt.1	+	1	889	c.889G>T	c.(889-891)GAA>TAA	p.E297*		NM_001005281	NP_001005281	O95007	OR6B1_HUMAN	olfactory receptor, family 6, subfamily B,	297	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1	Melanoma(164;0.0783)					AGAGGTCAAGGAAGCTCTGAA	0.433		NaN											1	0	1.02788e-11	0.0333	1.21427e-11	16	64									
ABP1	26	broad.mit.edu	37	7	150554983	150554983	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr7:150554983G>A	uc003why.1	+	3	5643	c.1425G>A	c.(1423-1425)ATG>ATA	p.M475I	ABP1_uc003whz.1_Missense_Mutation_p.M475I|ABP1_uc003wia.1_Missense_Mutation_p.M475I	NM_001091	NP_001082	P19801	ABP1_HUMAN	amiloride binding protein 1 precursor	475					amine metabolic process	extracellular space|peroxisome	copper ion binding|diamine oxidase activity|heparin binding|histamine oxidase activity|methylputrescine oxidase activity|primary amine oxidase activity|propane-1,3-diamine oxidase activity|quinone binding			ovary(2)|breast(2)|skin(2)	6	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Amiloride(DB00594)|Spermine(DB00127)	ACGGGGTGATGGAGGCCAAGA	0.577		NaN											0	0	0	0.086207	0	38	71									
TRIM35	23087	broad.mit.edu	37	8	27168708	27168708	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr8:27168708G>C	uc003xfl.1	-	1	127	c.45C>G	c.(43-45)TTC>TTG	p.F15L	PTK2B_uc003xfn.1_5'Flank|PTK2B_uc003xfo.1_5'Flank|TRIM35_uc010lup.1_Missense_Mutation_p.F15L|TRIM35_uc003xfm.1_RNA	NM_171982	NP_741983	Q9UPQ4	TRI35_HUMAN	tripartite motif-containing 35 isoform 2	15					apoptosis|induction of apoptosis|negative regulation of mitotic cell cycle	cytoplasm|nucleus	zinc ion binding				0		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0213)|Epithelial(17;9.34e-10)|Colorectal(74;0.141)		ACTCCTCCTTGAAGGAGCGGG	0.706		NaN											0	0	0	0.021553	0	5	5									
TRAM1	23471	broad.mit.edu	37	8	71508503	71508503	+	Silent	SNP	C	C	G			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr8:71508503C>G	uc003xyo.1	-	5	650	c.480G>C	c.(478-480)CTG>CTC	p.L160L	TRAM1_uc011lfc.1_Silent_p.L129L	NM_014294	NP_055109	Q15629	TRAM1_HUMAN	translocation associated membrane protein 1	160	Helical; (Potential).|TLC.				cotranslational protein targeting to membrane|transmembrane transport	endoplasmic reticulum membrane|integral to membrane	protein binding|receptor activity			ovary(1)	1			Epithelial(68;0.00679)|all cancers(69;0.0324)|OV - Ovarian serous cystadenocarcinoma(28;0.0509)			CTTACGTCATCAGGTTATGGG	0.363		NaN											0	0	0	0.038395	0	19	79									
KCNB2	9312	broad.mit.edu	37	8	73848919	73848919	+	Silent	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr8:73848919C>T	uc003xzb.2	+	3	1917	c.1329C>T	c.(1327-1329)GCC>GCT	p.A443A		NM_004770	NP_004761	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related	443	Cytoplasmic (Potential).				regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			skin(3)|large_intestine(1)|pancreas(1)|ovary(1)|central_nervous_system(1)	7	Breast(64;0.137)		Epithelial(68;0.105)			TTGAGCGGGCCAAAAGGAACG	0.458		NaN											0	0	0	0.069288	0	21	95									
FABP9	646480	broad.mit.edu	37	8	82373707	82373707	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr8:82373707C>G	uc011lfo.1	-	1	52	c.52G>C	c.(52-54)GAG>CAG	p.E18Q		NM_001080526	NP_001073995	Q0Z7S8	FABP9_HUMAN	fatty acid binding protein 9, testis	18							lipid binding|transporter activity				0			Epithelial(68;0.186)			ATGTAATCCTCAAAGTTTTCA	0.393		NaN											0	0	0	0.116897	0	26	127									
TMEM67	91147	broad.mit.edu	37	8	94767171	94767171	+	Missense_Mutation	SNP	C	C	T	rs146838062		TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr8:94767171C>T	uc011lgk.1	+	1	100	c.29C>T	c.(28-30)GCA>GTA	p.A10V	TMEM67_uc010mau.2_Missense_Mutation_p.A10V|TMEM67_uc010mav.2_Missense_Mutation_p.A10V|TMEM67_uc010mat.1_Intron|TMEM67_uc010maw.2_Missense_Mutation_p.A10V|TMEM67_uc003yga.3_Intron	NM_153704	NP_714915	Q5HYA8	MKS3_HUMAN	meckelin isoform 1	10	Helical; (Potential).				cilium assembly|ER-associated protein catabolic process|negative regulation of centrosome duplication	centrosome|cilium membrane|cytoplasmic vesicle membrane|endoplasmic reticulum membrane|integral to membrane|microtubule basal body	unfolded protein binding			ovary(2)	2	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.00896)			GCTGGGGTGGCAATGGCGGTT	0.642		NaN											0	0	0	0.099896	0	23	107									
DPYS	1807	broad.mit.edu	37	8	105463544	105463544	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr8:105463544C>T	uc003yly.3	-	2	482	c.353G>A	c.(352-354)CGA>CAA	p.R118Q		NM_001385	NP_001376	Q14117	DPYS_HUMAN	dihydropyrimidinase	118					protein homotetramerization|pyrimidine nucleoside catabolic process|thymine catabolic process|uracil catabolic process	cytosol	dihydropyrimidinase activity|zinc ion binding			upper_aerodigestive_tract(1)|ovary(1)	2			OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)			AGCCCAGCTTCGCCAGGTCTC	0.522		NaN											0	0	0	0.02938	0	7	42									
RECQL4	9401	broad.mit.edu	37	8	145737627	145737627	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr8:145737627C>T	uc003zdj.2	-	19	3168	c.3136G>A	c.(3136-3138)GAG>AAG	p.E1046K		NM_004260	NP_004251	O94761	RECQ4_HUMAN	RecQ protein-like 4	1046					DNA duplex unwinding|DNA recombination|DNA repair	cytoplasm|nucleus	ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|DNA strand annealing activity|zinc ion binding			breast(2)|lung(1)|skin(1)	4	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			TCCTTCTCCTCAGCGGTCAAG	0.637		NaN	N|F|S			osteosarcoma|skin basal and sqamous cell		Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents	RAPADILINO_syndrome|Rothmund-Thomson_syndrome|Baller-Gerold_syndrome				0	0	0	0.105934	0	11	37									
ARHGAP39	80728	broad.mit.edu	37	8	145770988	145770988	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr8:145770988C>G	uc003zdt.1	-	7	2721	c.2166G>C	c.(2164-2166)TGG>TGC	p.W722C	ARHGAP39_uc011llk.1_Missense_Mutation_p.W722C|ARHGAP39_uc003zds.1_Missense_Mutation_p.W722C	NM_025251	NP_079527	Q9C0H5	RHG39_HUMAN	KIAA1688 protein	722	MyTH4.				axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|nucleus	GTPase activator activity				0						ACTCGCTGCTCCAGGCCAGCA	0.592		NaN											0	0	0	0.09319	0	12	33									
GLDC	2731	broad.mit.edu	37	9	6592946	6592946	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr9:6592946C>G	uc003zkc.2	-	10	1499	c.1306G>C	c.(1306-1308)GAT>CAT	p.D436H		NM_000170	NP_000161	P23378	GCSP_HUMAN	glycine dehydrogenase (decarboxylating)	436					glycine catabolic process	mitochondrion	electron carrier activity|glycine dehydrogenase (decarboxylating) activity|lyase activity|pyridoxal phosphate binding			ovary(2)	2		Acute lymphoblastic leukemia(23;0.161)		GBM - Glioblastoma multiforme(50;0.0421)|Lung(218;0.134)	Glycine(DB00145)|Pyridoxal Phosphate(DB00114)	TTCAAGGTATCAAAGAACAGG	0.507		NaN											0	0	0	0.038395	0	18	90									
MPDZ	8777	broad.mit.edu	37	9	13176368	13176368	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr9:13176368G>C	uc010mia.1	-	19	2755	c.2698C>G	c.(2698-2700)CTG>GTG	p.L900V	MPDZ_uc003zkz.3_5'Flank|MPDZ_uc010mhy.2_Missense_Mutation_p.L900V|MPDZ_uc010mhz.2_Missense_Mutation_p.L900V|MPDZ_uc011lmn.1_Missense_Mutation_p.L900V|MPDZ_uc003zlb.3_Missense_Mutation_p.L900V	NM_003829	NP_003820	O75970	MPDZ_HUMAN	multiple PDZ domain protein	900					interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding			ovary(5)|central_nervous_system(1)	6				GBM - Glioblastoma multiforme(50;2.03e-06)		AGTTCCTCCAGAGACATATGC	0.378		NaN											0	0	0	0.009096	0	4	26									
ZCCHC7	84186	broad.mit.edu	37	9	37126696	37126696	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr9:37126696C>T	uc003zzq.2	+	2	540	c.367C>T	c.(367-369)CTT>TTT	p.L123F	ZCCHC7_uc011lqh.1_Intron|ZCCHC7_uc011lqi.1_Missense_Mutation_p.L122F|ZCCHC7_uc010mlt.2_Missense_Mutation_p.L122F|ZCCHC7_uc003zzs.1_Missense_Mutation_p.L122F	NM_032226	NP_115602	Q8N3Z6	ZCHC7_HUMAN	zinc finger, CCHC domain containing 7	123							nucleic acid binding|zinc ion binding			ovary(1)|central_nervous_system(1)|skin(1)	3				GBM - Glioblastoma multiforme(29;0.0137)		TTCTTCTTCTCTTCAATCTAA	0.368		NaN											0	0	0	0.083992	0	25	196									
TRPM3	80036	broad.mit.edu	37	9	73230868	73230868	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr9:73230868C>G	uc004aid.2	-	17	2690	c.2446G>C	c.(2446-2448)GAG>CAG	p.E816Q	TRPM3_uc004ahu.2_Missense_Mutation_p.E646Q|TRPM3_uc004ahv.2_Missense_Mutation_p.E618Q|TRPM3_uc004ahw.2_Missense_Mutation_p.E688Q|TRPM3_uc004ahx.2_Missense_Mutation_p.E675Q|TRPM3_uc004ahy.2_Missense_Mutation_p.E678Q|TRPM3_uc004ahz.2_Missense_Mutation_p.E665Q|TRPM3_uc004aia.2_Missense_Mutation_p.E663Q|TRPM3_uc004aib.2_Missense_Mutation_p.E653Q|TRPM3_uc004aic.2_Missense_Mutation_p.E816Q	NM_001007471	NP_001007472	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel,	841	Extracellular (Potential).					integral to membrane	calcium channel activity			ovary(3)|pancreas(2)|central_nervous_system(2)|skin(2)	9						GTGGGCTTCTCTGGTTCTTCT	0.458		NaN											0	0	0	0.062417	0	21	77									
ALG2	85365	broad.mit.edu	37	9	101980827	101980827	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr9:101980827C>T	uc004azf.2	-	2	710	c.640G>A	c.(640-642)GAA>AAA	p.E214K	ALG2_uc004azg.2_Missense_Mutation_p.E121K	NM_033087	NP_149078	Q9H553	ALG2_HUMAN	alpha-1,3-mannosyltransferase ALG2	214					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein glycosylation in endoplasmic reticulum|protein N-linked glycosylation via asparagine|response to calcium ion	endoplasmic reticulum membrane|integral to membrane|membrane fraction|nucleus|perinuclear region of cytoplasm	alpha-1,3-mannosyltransferase activity|calcium-dependent protein binding|glycolipid 3-alpha-mannosyltransferase activity|protein anchor|protein heterodimerization activity|protein N-terminus binding			ovary(2)	2		Acute lymphoblastic leukemia(62;0.0559)				TCCAGCTTTTCAGGAACAACT	0.448		NaN											0	0	0	0.0918	0	26	69									
ORM2	5005	broad.mit.edu	37	9	117093120	117093120	+	Silent	SNP	G	G	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr9:117093120G>A	uc004bil.2	+	3	422	c.306G>A	c.(304-306)GAG>GAA	p.E102E	ORM1_uc011lxo.1_Intron	NM_000608	NP_000599	P19652	A1AG2_HUMAN	orosomucoid 2 precursor	102				E -> D (in Ref. 3; BAG35159).	acute-phase response|regulation of immune system process|transport	extracellular space	binding				0		Myeloproliferative disorder(63;0.163)				TCCAGCGGGAGAATGGGACCG	0.542		NaN											0	0	0	0.064281	0	32	18									
SETX	23064	broad.mit.edu	37	9	135205429	135205429	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr9:135205429G>A	uc004cbk.2	-	10	1739	c.1556C>T	c.(1555-1557)TCT>TTT	p.S519F	SETX_uc004cbj.2_Missense_Mutation_p.S138F|SETX_uc010mzt.2_Missense_Mutation_p.S138F	NM_015046	NP_055861	Q7Z333	SETX_HUMAN	senataxin	519					cell death|double-strand break repair|RNA processing	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity			ovary(2)|skin(1)	3		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		TGACAGTGAAGATATCATTGC	0.448		NaN											0	0	0	0.014758	0	5	142									
TSC1	7248	broad.mit.edu	37	9	135778175	135778175	+	Splice_Site	SNP	C	C	G			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	Fluidigm;WGS			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr9:135778175C>G	uc004cca.2	-	18	2443	c.2209_splice	c.e18-1	p.K737_splice	TSC1_uc004ccb.3_Splice_Site_p.K736_splice|TSC1_uc011mcq.1_Splice_Site_p.K686_splice|TSC1_uc011mcr.1_Intron	NM_000368	NP_000359	Q92574	TSC1_HUMAN	tuberous sclerosis 1 protein isoform 1						activation of Rho GTPase activity|cell cycle arrest|cell-matrix adhesion|insulin receptor signaling pathway|negative regulation of cell proliferation|negative regulation of protein ubiquitination|negative regulation of TOR signaling cascade|negative regulation of translation|positive regulation of focal adhesion assembly|regulation of phosphoprotein phosphatase activity|regulation of stress fiber assembly|rRNA export from nucleus	cell cortex|lamellipodium|membrane|TSC1-TSC2 complex	chaperone binding|protein N-terminus binding	p.?(1)		lung(4)|central_nervous_system(3)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|urinary_tract(1)|skin(1)|ovary(1)|bone(1)	14				OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06)		ACTGATCTTTCTAGCAGAGAC	0.423		NaN	D|Mis|N|F|S			hamartoma|renal cell			Tuberous_Sclerosis		OREG0019577	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.117977	0	45	24									
SEC16A	9919	broad.mit.edu	37	9	139358996	139358996	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr9:139358996G>A	uc004chx.2	-	9	4631	c.4322C>T	c.(4321-4323)TCT>TTT	p.S1441F	SEC16A_uc004chv.3_Missense_Mutation_p.S831F|SEC16A_uc004chw.2_Missense_Mutation_p.S1441F|SEC16A_uc010nbn.2_Missense_Mutation_p.S1441F	NM_014866	NP_055681	O15027	SC16A_HUMAN	SEC16 homolog A	1263					protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane					0		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		TTTTTCAGGAGAAGTTGGTCT	0.438		NaN											0	0	0	0.132662	0	16	44									
C9orf172	389813	broad.mit.edu	37	9	139739870	139739870	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr9:139739870C>T	uc011meh.1	+	1	1004	c.1004C>T	c.(1003-1005)CCA>CTA	p.P335L	PHPT1_uc004cjp.2_5'Flank	NM_001080482	NP_001073951	C9J069	CI172_HUMAN	chromosome 9 open reading frame 172	335	Pro-rich.										0						CGCACCTTCCCAATCCAGGAA	0.692		NaN											0	0	0	0.021553	0	6	22									
C9orf172	389813	broad.mit.edu	37	9	139741083	139741083	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr9:139741083C>G	uc011meh.1	+	1	2217	c.2217C>G	c.(2215-2217)ATC>ATG	p.I739M	PHPT1_uc004cjp.2_5'Flank|PHPT1_uc011mei.1_5'Flank|PHPT1_uc004cjq.3_5'Flank	NM_001080482	NP_001073951	C9J069	CI172_HUMAN	chromosome 9 open reading frame 172	739											0						TCTCGCGCATCGCGCGTGTCG	0.706		NaN											0	0	0	0.021553	0	6	11									
NRARP	441478	broad.mit.edu	37	9	140196037	140196037	+	Silent	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr9:140196037C>T	uc004cmo.2	-	1	667	c.344G>A	c.(343-345)TGA>TAA	p.*115*	C9orf167_uc011mew.1_Intron	NM_001004354	NP_001004354	Q7Z6K4	NRARP_HUMAN	NOTCH-regulated ankyrin repeat protein	115					negative regulation of Notch signaling pathway|positive regulation of canonical Wnt receptor signaling pathway						0	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.185)	OV - Ovarian serous cystadenocarcinoma(145;9.07e-05)|Epithelial(140;0.000273)		CGGCGGGCATCACCGGCCGCT	0.731		NaN											0	0	0	0.009096	0	4	6									
SCML2	10389	broad.mit.edu	37	X	18283889	18283889	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chrX:18283889G>A	uc004cyl.2	-	8	921	c.764C>T	c.(763-765)TCT>TTT	p.S255F	SCML2_uc004cyk.3_RNA|SCML2_uc010nfd.1_Missense_Mutation_p.S255F|SCML2_uc011miz.1_Missense_Mutation_p.S189F|SCML2_uc010nfc.2_5'UTR	NM_006089	NP_006080	Q9UQR0	SCML2_HUMAN	sex comb on midleg-like 2	255					anatomical structure morphogenesis	PcG protein complex	DNA binding|sequence-specific DNA binding transcription factor activity				0	Hepatocellular(33;0.183)					GGAAGGAGAAGACTCTGTTTT	0.363		NaN											0	0	0	0.069288	0	24	26									
RPGR	6103	broad.mit.edu	37	X	38147258	38147258	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chrX:38147258C>T	uc004ded.1	-	14	1777	c.1609G>A	c.(1609-1611)GCT>ACT	p.A537T	RPGR_uc004deb.2_Missense_Mutation_p.A537T|RPGR_uc004dea.2_RNA|RPGR_uc004dec.2_Intron	NM_001034853	NP_001030025	Q92834	RPGR_HUMAN	retinitis pigmentosa GTPase regulator isoform C	537	Glu-rich.				intracellular protein transport|response to stimulus|visual perception	Golgi apparatus|photoreceptor outer segment	guanyl-nucleotide exchange factor activity|protein binding			ovary(1)	1						TCAGTAAGAGCTGTATCCTGC	0.338		NaN											0	0	0	0.069288	0	23	52									
KDM6A	7403	broad.mit.edu	37	X	44966654	44966654	+	Splice_Site	SNP	G	G	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	Fluidigm;WGS			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chrX:44966654G>A	uc004dge.3	+	27	4254	c.3879_splice	c.e27-1	p.K1293_splice	KDM6A_uc011mkz.1_Splice_Site_p.K1345_splice|KDM6A_uc011mla.1_Splice_Site_p.K1248_splice|KDM6A_uc011mlb.1_Splice_Site_p.K1300_splice|KDM6A_uc011mlc.1_Splice_Site_p.K997_splice|KDM6A_uc011mld.1_Splice_Site_p.K932_splice	NM_021140	NP_066963	O15550	KDM6A_HUMAN	ubiquitously transcribed tetratricopeptide						histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			kidney(24)|haematopoietic_and_lymphoid_tissue(23)|oesophagus(11)|large_intestine(7)|lung(5)|breast(4)|central_nervous_system(3)|urinary_tract(3)|endometrium(2)|pancreas(2)	84						CCCCACAATAGGTATTGTCTT	0.368		NaN	D|N|F|S		renal|oesophageal SCC|MM								0	0	0	0.069288	0	22	21									
IGBP1	3476	broad.mit.edu	37	X	69353901	69353901	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chrX:69353901C>T	uc004dxv.2	+	1	603	c.104C>T	c.(103-105)TCC>TTC	p.S35F	IGBP1_uc004dxw.2_Missense_Mutation_p.S35F	NM_001551	NP_001542	P78318	IGBP1_HUMAN	immunoglobulin binding protein 1	35					B cell activation|negative regulation of caspase activity|negative regulation of stress-activated MAPK cascade|negative regulation of transcription from RNA polymerase II promoter|regulation of microtubule-based movement|response to interleukin-1|response to tumor necrosis factor|signal transduction	cytoplasm	protein phosphatase type 2A regulator activity			kidney(1)|pancreas(1)	2						CCCGCCGGTTCCCGGATAGTC	0.562		NaN									OREG0019849	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.043863	0	14	39									
MED12	9968	broad.mit.edu	37	X	70356862	70356862	+	Missense_Mutation	SNP	A	A	C			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chrX:70356862A>C	uc004dyy.2	+	38	5733	c.5534A>C	c.(5533-5535)AAC>ACC	p.N1845T	MED12_uc011mpq.1_Missense_Mutation_p.N1845T|MED12_uc004dyz.2_Missense_Mutation_p.N1845T|MED12_uc004dza.2_Missense_Mutation_p.N1692T|MED12_uc010nla.2_Missense_Mutation_p.N471T	NM_005120	NP_005111	Q93074	MED12_HUMAN	mediator complex subunit 12	1845	Interaction with CTNNB1 and GLI3.				androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	4	Renal(35;0.156)					TACACCCAGAACCAGCCACTA	0.567		NaN											0	0	0	0.080935	0	4	17									
RBM41	55285	broad.mit.edu	37	X	106359927	106359927	+	Silent	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chrX:106359927C>T	uc004emz.2	-	2	109	c.78G>A	c.(76-78)CTG>CTA	p.L26L	RBM41_uc004emy.1_Silent_p.L26L	NM_018301	NP_060771	Q96IZ5	RBM41_HUMAN	RNA binding motif protein 41	26							nucleotide binding|RNA binding			ovary(1)	1						GGAGGCTTTTCAGCTGCCTCT	0.443		NaN											0	0	0	0.055883	0	18	42									
PGRMC1	10857	broad.mit.edu	37	X	118374364	118374364	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chrX:118374364G>A	uc004erb.2	+	2	537	c.421G>A	c.(421-423)GAC>AAC	p.D141N	PGRMC1_uc011mts.1_Intron	NM_006667	NP_006658	O00264	PGRC1_HUMAN	progesterone receptor membrane component 1	141	Cytochrome b5 heme-binding.|Cytoplasmic (Potential).					cell surface|endoplasmic reticulum membrane|integral to membrane|microsome|nucleolus	heme binding|protein binding|receptor activity|steroid binding				0						TGAGTACGATGACCTTTCTGA	0.483		NaN											0	0	0	0.125774	0	29	97									
GPR101	83550	broad.mit.edu	37	X	136112888	136112888	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chrX:136112888C>T	uc011mwh.1	-	1	946	c.946G>A	c.(946-948)GGC>AGC	p.G316S		NM_054021	NP_473362	Q96P66	GP101_HUMAN	G protein-coupled receptor 101	316	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(3)|lung(1)|skin(1)	5	Acute lymphoblastic leukemia(192;0.000127)					TCCATGCTGCCGTCGCTGGCC	0.597		NaN											0	0	0	0.074837	0	39	283									
ELF3	1999	broad.mit.edu	37	1	201981484	201981494	+	Frame_Shift_Del	DEL	CTGATGAGCTC	CTGATGAGCTC	-			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08			CTGATGAGCTC	-	CTGATGAGCTC	CTGATGAGCTC		Valid	Somatic	Phase_I	WXS	Fluidigm_realigned			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr1:201981484_201981494delCTGATGAGCTC	uc001gxg.3	+	3	3590_3600	c.398_408delCTGATGAGCTC	c.(397-408)TCTGATGAGCTCfs	p.S133fs	ELF3_uc001gxi.3_Frame_Shift_Del_p.S133fs|ELF3_uc001gxh.3_Frame_Shift_Del_p.S133fs	NM_004433	NP_004424	P78545	ELF3_HUMAN	E74-like factor 3 (ets domain transcription	133_136					epidermis development|epithelial cell differentiation|inflammatory response|mammary gland involution|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi apparatus|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity				0						TCCAGCTCTTCTGATGAGCTCAGTTGGATCA	0.583		NaN											NaN	NaN	NaN	NaN	NaN	66	66	---	---							
SRP9	6726	broad.mit.edu	37	1	225977051	225977051	+	Frame_Shift_Del	DEL	A	A	-			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr1:225977051delA	uc001hpg.2	+	3	379	c.251delA	c.(250-252)GAAfs	p.E84fs	SRP9_uc001hpf.3_RNA|SRP9_uc001hph.2_3'UTR|SRP9_uc001hpi.3_RNA	NM_003133	NP_003124	P49458	SRP09_HUMAN	signal recognition particle 9kDa isoform 2	84					negative regulation of translational elongation|SRP-dependent cotranslational protein targeting to membrane	cytosol|signal recognition particle receptor complex|signal recognition particle, endoplasmic reticulum targeting	7S RNA binding|signal recognition particle binding				0						GTTACCATGGAAACTGAGTGA	0.363		NaN											NaN	NaN	NaN	NaN	NaN	16	15	---	---							
CALHM2	51063	broad.mit.edu	37	10	105209459	105209459	+	Frame_Shift_Del	DEL	C	C	-			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr10:105209459delC	uc001kwz.2	-	2	626	c.240delG	c.(238-240)TGGfs	p.W80fs	CALHM2_uc001kxa.2_Frame_Shift_Del_p.W80fs|CALHM2_uc001kxc.2_Frame_Shift_Del_p.W80fs|CALHM2_uc001kxb.2_Frame_Shift_Del_p.W80fs|CALHM2_uc001kxd.1_Frame_Shift_Del_p.W80fs	NM_015916	NP_057000	Q9HA72	CAHM2_HUMAN	calcium homeostasis modulator 2	80						integral to membrane				skin(1)	1						CCACGAGGTTCCAGGTGTGGT	0.662		NaN											NaN	NaN	NaN	NaN	NaN	28	104	---	---							
KIAA0100	9703	broad.mit.edu	37	17	26966333	26966334	+	Frame_Shift_Ins	INS	-	-	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr17:26966333_26966334insT	uc002hbu.2	-	11	1327_1328	c.1228_1229insA	c.(1228-1230)AGAfs	p.R410fs	KIAA0100_uc002hbv.2_Frame_Shift_Ins_p.R410fs	NM_014680	NP_055495	Q14667	K0100_HUMAN	hypothetical protein LOC9703 precursor	410						extracellular region				ovary(2)|breast(1)|skin(1)	4	Lung NSC(42;0.00431)					TCAGACTGACCTTTTTTTCCTT	0.436		NaN											NaN	NaN	NaN	NaN	NaN	97	135	---	---							
CARD14	79092	broad.mit.edu	37	17	78156494	78156494	+	Frame_Shift_Del	DEL	C	C	-			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr17:78156494delC	uc002jxw.1	+	3	449	c.254delC	c.(253-255)GCCfs	p.A85fs	CARD14_uc002jxt.1_RNA|CARD14_uc002jxv.2_Frame_Shift_Del_p.A85fs|CARD14_uc010wud.1_5'Flank	NM_024110	NP_077015	Q9BXL6	CAR14_HUMAN	caspase recruitment domain protein 14 isoform 1	85	CARD.				activation of NF-kappaB-inducing kinase activity|positive regulation of protein phosphorylation|regulation of apoptosis	aggresome|cytoplasm|plasma membrane	CARD domain binding			ovary(4)|skin(1)	5	all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.017)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			AAGAACGGGGCCATCGCCTTC	0.592		NaN											NaN	NaN	NaN	NaN	NaN	19	41	---	---							
MUC16	94025	broad.mit.edu	37	19	9073469	9073470	+	Frame_Shift_Ins	INS	-	-	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr19:9073469_9073470insA	uc002mkp.2	-	3	14180_14181	c.13976_13977insT	c.(13975-13977)TTCfs	p.F4659fs		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	4661	Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						TGGCTACTGAGAAAATATCTGG	0.455		NaN											NaN	NaN	NaN	NaN	NaN	53	116	---	---							
WDR43	23160	broad.mit.edu	37	2	29117734	29117735	+	In_Frame_Ins	INS	-	-	CCT			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr2:29117734_29117735insCCT	uc002rmo.2	+	1	202_203	c.170_171insCCT	c.(169-171)CAC>CACCTC	p.58_59insL		NM_015131	NP_055946	Q15061	WDR43_HUMAN	WD repeat domain 43	58_59	WD 2.					nucleolus				ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)					CCTTCCGCGCACCTCAGTGGTA	0.678		NaN											NaN	NaN	NaN	NaN	NaN	8	12	---	---							
GRM1	2911	broad.mit.edu	37	6	146755630	146755632	+	In_Frame_Del	DEL	GAC	GAC	-			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr6:146755630_146755632delGAC	uc010khw.1	+	9	3753_3755	c.3283_3285delGAC	c.(3283-3285)GACdel	p.D1099del	GRM1_uc010khv.1_3'UTR|GRM1_uc003qll.2_3'UTR|GRM1_uc011edz.1_3'UTR|GRM1_uc011eea.1_3'UTR	NM_000838	NP_000829	Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1 isoform alpha	1099	Asp/Glu-rich (acidic).|Cytoplasmic (Potential).				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			lung(8)|ovary(4)|central_nervous_system(3)|large_intestine(2)|breast(2)	19		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	CCCGCCCGCGGACGACGACGACG	0.65		NaN											NaN	NaN	NaN	NaN	NaN	7	788	---	---