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_by_all_platform	validation_method	validation_tumor_sample
MIB2	142678	broad.mit.edu	37	1	1551937	1551937	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:1551937C>T	uc001agg.2	+	2	180	c.53C>T	c.(52-54)TCA>TTA	p.S18L	MIB2_uc001agh.2_Missense_Mutation_p.S18L|MIB2_uc001agi.2_Missense_Mutation_p.S18L|MIB2_uc001agj.2_5'UTR|MIB2_uc001agk.2_Missense_Mutation_p.S18L|MIB2_uc001agl.1_5'UTR|MIB2_uc001agm.2_5'UTR|MIB2_uc010nyq.1_5'UTR	NM_080875	NP_543151	Q96AX9	MIB2_HUMAN	mindbomb homolog 2	18					Notch signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade	endosome	actin binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding				0	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;5.26e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.54e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|BRCA - Breast invasive adenocarcinoma(365;0.00786)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		TTCCAGGCATCAGGGCTGCAG	0.652		NaN											0	0	0	1	0	13	27				
KIAA1751	85452	broad.mit.edu	37	1	1903481	1903481	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:1903481C>T	uc001aim.1	-	9	982	c.826G>A	c.(826-828)GAG>AAG	p.E276K	KIAA1751_uc009vkz.1_Missense_Mutation_p.E276K	NM_001080484	NP_001073953	Q9C0B2	K1751_HUMAN	hypothetical protein LOC85452	276										pancreas(1)	1	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;8.79e-39)|OV - Ovarian serous cystadenocarcinoma(86;9.61e-25)|GBM - Glioblastoma multiforme(42;1.2e-07)|Colorectal(212;4.84e-05)|COAD - Colon adenocarcinoma(227;0.000214)|Kidney(185;0.00254)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.037)|Lung(427;0.205)		CTCATGTACTCGTGGCACTCC	0.502		NaN											0	0	0	1	0	46	106				
PRDM16	63976	broad.mit.edu	37	1	3348546	3348546	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:3348546G>T	uc001akf.2	+	16	3618	c.3538G>T	c.(3538-3540)GAA>TAA	p.E1180*	PRDM16_uc001akc.2_Nonsense_Mutation_p.E1179*|PRDM16_uc001akd.2_Nonsense_Mutation_p.E1179*|PRDM16_uc001ake.2_Nonsense_Mutation_p.E1180*|PRDM16_uc009vlh.2_Nonsense_Mutation_p.E880*	NM_022114	NP_071397	Q9HAZ2	PRD16_HUMAN	PR domain containing 16 isoform 1	1180	Mediates interaction with SKI and regulation of TGF-beta signaling.				brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent	transcriptional repressor complex	protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding			lung(3)|ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	7	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		TGAGGACCACGAAGGCGGTCT	0.592		NaN	T	EVI1	MDS|AML								1	0	4.96729e-08	1	5.15295e-08	16	69				
CCDC27	148870	broad.mit.edu	37	1	3679963	3679963	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:3679963G>C	uc001akv.2	+	7	1327	c.1246G>C	c.(1246-1248)GAG>CAG	p.E416Q		NM_152492	NP_689705	Q2M243	CCD27_HUMAN	coiled-coil domain containing 27	416	Glu-rich.									skin(1)	1	all_cancers(77;0.0385)|Ovarian(185;0.0634)|Lung NSC(156;0.21)|all_lung(157;0.218)	all_epithelial(116;5.52e-17)|all_lung(118;1.04e-06)|Lung NSC(185;0.000214)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Lung SC(97;0.0367)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127)		Epithelial(90;1.11e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.35e-22)|GBM - Glioblastoma multiforme(42;3.46e-16)|Colorectal(212;1.17e-05)|COAD - Colon adenocarcinoma(227;5.76e-05)|Kidney(185;0.00036)|BRCA - Breast invasive adenocarcinoma(365;0.000696)|KIRC - Kidney renal clear cell carcinoma(229;0.00558)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.203)		GGCCCAGCTGGAGGAGTACGA	0.522		NaN											0	0	0	1	0	30	71				
DNAJC11	55735	broad.mit.edu	37	1	6727843	6727843	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:6727843C>T	uc001aof.2	-	4	410	c.304G>A	c.(304-306)GAA>AAA	p.E102K	DNAJC11_uc010nzt.1_Missense_Mutation_p.E64K|DNAJC11_uc001aog.2_Missense_Mutation_p.E102K|DNAJC11_uc010nzu.1_Missense_Mutation_p.E12K	NM_018198	NP_060668	Q9NVH1	DJC11_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 11	102					protein folding		heat shock protein binding|unfolded protein binding			ovary(1)|skin(1)	2	Ovarian(185;0.0265)|all_lung(157;0.154)	all_cancers(23;1.97e-27)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;2.34e-07)|COAD - Colon adenocarcinoma(227;2.05e-05)|Kidney(185;7.67e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000639)|KIRC - Kidney renal clear cell carcinoma(229;0.00128)|STAD - Stomach adenocarcinoma(132;0.00179)|READ - Rectum adenocarcinoma(331;0.0649)		TCTCGAATTTCAGCAGGGGTT	0.522		NaN											0	0	0	1	0	17	45				
SLC45A1	50651	broad.mit.edu	37	1	8399747	8399747	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:8399747C>T	uc001apb.2	+	7	1969	c.1969C>T	c.(1969-1971)CAG>TAG	p.Q657*	SLC45A1_uc001apc.2_Nonsense_Mutation_p.Q355*	NM_001080397	NP_001073866	Q9Y2W3	S45A1_HUMAN	DNB5	657					carbohydrate transport	integral to membrane	symporter activity			central_nervous_system(2)|pancreas(1)|skin(1)	4	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;1.22e-15)|all_lung(118;0.000147)|Lung NSC(185;0.000251)|Renal(390;0.000469)|Colorectal(325;0.00578)|Breast(348;0.00686)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;3.95e-66)|GBM - Glioblastoma multiforme(8;5.93e-33)|Colorectal(212;2.86e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)		CGATTACTATCAGAGTAAGAA	0.463		NaN											0	0	0	1	0	44	148				
PGD	5226	broad.mit.edu	37	1	10479590	10479590	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:10479590C>T	uc001arc.2	+	12	1416	c.1326C>T	c.(1324-1326)CTC>CTT	p.L442L	PGD_uc001ard.2_Silent_p.L362L|PGD_uc010oak.1_Silent_p.L420L|PGD_uc010oal.1_Silent_p.L429L	NM_002631	NP_002622	P52209	6PGD_HUMAN	phosphogluconate dehydrogenase	442					pentose-phosphate shunt, oxidative branch	cytosol	NADP binding|phosphogluconate dehydrogenase (decarboxylating) activity|protein binding			ovary(1)	1	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.19e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.14e-07)|COAD - Colon adenocarcinoma(227;7.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000294)|Kidney(185;0.000728)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(132;0.00832)|READ - Rectum adenocarcinoma(331;0.0487)		CAGCCAGCCTCATCCAGGTAA	0.592		NaN											0	0	0	1	0	36	141				
C1orf187	374946	broad.mit.edu	37	1	11772015	11772015	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:11772015G>C	uc001asr.1	+	4	890	c.750G>C	c.(748-750)AAG>AAC	p.K250N		NM_198545	NP_940947	Q8NBI3	DRAXI_HUMAN	chromosome 1 open reading frame 187 precursor	250					axon guidance|commissural neuron differentiation in spinal cord|dorsal spinal cord development|forebrain development|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	extracellular region					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;0.00826)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.48e-06)|COAD - Colon adenocarcinoma(227;0.000283)|BRCA - Breast invasive adenocarcinoma(304;0.000316)|Kidney(185;0.000841)|KIRC - Kidney renal clear cell carcinoma(229;0.00269)|STAD - Stomach adenocarcinoma(313;0.00754)|READ - Rectum adenocarcinoma(331;0.0651)		CCTCTGCAAAGAAGAAAGGTA	0.582		NaN											0	0	0	1	0	7	16				
VPS13D	55187	broad.mit.edu	37	1	12343399	12343399	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:12343399G>A	uc001atv.2	+	21	5381	c.5240G>A	c.(5239-5241)CGG>CAG	p.R1747Q	VPS13D_uc001atw.2_Missense_Mutation_p.R1747Q|VPS13D_uc001atx.2_Missense_Mutation_p.R935Q	NM_015378	NP_056193	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13D isoform 1	1747					protein localization					ovary(4)|pancreas(1)	5	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		TCTGCGTCCCGGAAAAAGCAA	0.478		NaN											0	0	0	1	0	14	44				
VPS13D	55187	broad.mit.edu	37	1	12516150	12516150	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:12516150G>A	uc001atv.2	+	66	12571	c.12430G>A	c.(12430-12432)GAA>AAA	p.E4144K	VPS13D_uc001atw.2_Missense_Mutation_p.E4119K|VPS13D_uc001atx.2_Missense_Mutation_p.E3331K|VPS13D_uc009vnl.2_Intron|VPS13D_uc010obd.1_Missense_Mutation_p.E142K	NM_015378	NP_056193	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13D isoform 1	4143					protein localization					ovary(4)|pancreas(1)	5	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		CACAAGTGGTGAACACCTTGT	0.527		NaN											0	0	0	1	0	18	77				
PRDM2	7799	broad.mit.edu	37	1	14107448	14107448	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:14107448C>T	uc001avi.2	+	8	4014	c.3158C>T	c.(3157-3159)TCT>TTT	p.S1053F	PRDM2_uc001avg.2_Intron|PRDM2_uc001avh.2_Missense_Mutation_p.S1053F|PRDM2_uc001avj.2_Intron|PRDM2_uc001avk.2_Missense_Mutation_p.S852F|PRDM2_uc009voe.2_Intron|PRDM2_uc009vof.2_Intron	NM_012231	NP_036363	Q13029	PRDM2_HUMAN	retinoblastoma protein-binding zinc finger	1053	Poly-Ser.					Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		ACACTttcttcttcctcctct	0.388		NaN											0	0	0	1	0	21	68				
PRDM2	7799	broad.mit.edu	37	1	14107484	14107484	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:14107484C>G	uc001avi.2	+	8	4050	c.3194C>G	c.(3193-3195)TCT>TGT	p.S1065C	PRDM2_uc001avg.2_Intron|PRDM2_uc001avh.2_Missense_Mutation_p.S1065C|PRDM2_uc001avj.2_Intron|PRDM2_uc001avk.2_Missense_Mutation_p.S864C|PRDM2_uc009voe.2_Intron|PRDM2_uc009vof.2_Intron	NM_012231	NP_036363	Q13029	PRDM2_HUMAN	retinoblastoma protein-binding zinc finger	1065	Poly-Ser.					Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		tcttcgttttcttcttcatct	0.368		NaN											0	0	0	1	0	21	48				
CASP9	842	broad.mit.edu	37	1	15844829	15844829	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:15844829C>T	uc001awn.2	-	2	289	c.194G>A	c.(193-195)CGA>CAA	p.R65Q	CASP9_uc001awm.1_Missense_Mutation_p.R65Q|CASP9_uc001awo.2_Missense_Mutation_p.R65Q|CASP9_uc001awp.2_5'UTR|CASP9_uc009voi.2_5'UTR|CASP9_uc010obm.1_5'UTR|CASP9_uc001awq.2_5'UTR	NM_001229	NP_001220	P55211	CASP9_HUMAN	caspase 9 isoform alpha preproprotein	65	CARD.				activation of caspase activity by cytochrome c|induction of apoptosis by intracellular signals|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling	cytosol	cysteine-type endopeptidase activity|enzyme activator activity|protein binding			central_nervous_system(1)|kidney(1)	2		Breast(348;0.000207)|all_lung(284;0.000211)|Colorectal(325;0.000259)|Lung NSC(340;0.000269)|Renal(390;0.000518)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;8.49e-07)|COAD - Colon adenocarcinoma(227;4.36e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00013)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00763)|READ - Rectum adenocarcinoma(331;0.0655)		CTGACTCCCTCGAGTCTCCAG	0.527		NaN											0	0	0	1	0	25	80				
TMEM82	388595	broad.mit.edu	37	1	16073402	16073402	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:16073402G>A	uc001axc.2	+	5	936	c.798G>A	c.(796-798)CAG>CAA	p.Q266Q		NM_001013641	NP_001013663	A0PJX8	TMM82_HUMAN	transmembrane protein 82	266	Leu-rich.|Helical; (Potential).					integral to membrane				breast(1)|central_nervous_system(1)	2		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.73e-07)|COAD - Colon adenocarcinoma(227;3.49e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000114)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GCCAGGTGCAGACGGTGCTGG	0.682		NaN											0	0	0	1	0	6	24				
CLCNKB	1188	broad.mit.edu	37	1	16382217	16382217	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:16382217G>A	uc001axw.3	+	18	1973	c.1893G>A	c.(1891-1893)GTG>GTA	p.V631V	FAM131C_uc010obz.1_Intron|CLCNKB_uc001axx.3_Silent_p.V631V|CLCNKB_uc001axy.3_Silent_p.V461V	NM_000085	NP_000076	P51801	CLCKB_HUMAN	chloride channel Kb isoform 1	631	CBS 2.				excretion	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			skin(1)	1		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)		CAGAACCAGTGACCCTGAAGC	0.617		NaN											0	0	0	1	0	19	100				
ARHGEF19	128272	broad.mit.edu	37	1	16534235	16534235	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:16534235C>T	uc001ayc.1	-	4	869	c.732G>A	c.(730-732)ATG>ATA	p.M244I	ARHGEF19_uc009voo.1_5'Flank|ARHGEF19_uc001ayb.1_5'Flank	NM_153213	NP_694945	Q8IW93	ARHGJ_HUMAN	Rho guanine nucleotide exchange factor (GEF) 19	244					regulation of actin cytoskeleton organization	intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			skin(2)|ovary(1)	3		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|Colorectal(212;3.48e-07)|COAD - Colon adenocarcinoma(227;2.19e-05)|BRCA - Breast invasive adenocarcinoma(304;9.46e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.0117)|READ - Rectum adenocarcinoma(331;0.0649)		GGTCCCCGCTCATCTCTACAC	0.672		NaN											0	0	0	1	0	21	77				
ATP13A2	23400	broad.mit.edu	37	1	17328531	17328531	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:17328531C>T	uc001baa.2	-	8	893	c.703G>A	c.(703-705)GAG>AAG	p.E235K	ATP13A2_uc001bab.2_Missense_Mutation_p.E230K|ATP13A2_uc001bac.2_Missense_Mutation_p.E230K|ATP13A2_uc009vpa.1_5'Flank|ATP13A2_uc001bad.1_5'Flank	NM_022089	NP_071372	Q9NQ11	AT132_HUMAN	ATPase type 13A2 isoform 1	235	Helical; (Potential).				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			skin(2)|ovary(1)|central_nervous_system(1)	4		Colorectal(325;0.000147)|Breast(348;0.00104)|Renal(390;0.00145)|Lung NSC(340;0.00566)|all_lung(284;0.00797)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|COAD - Colon adenocarcinoma(227;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;1.99e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)		AGCCCTACCTCGTCCACCAGC	0.383		NaN											0	0	0	1	0	11	24				
IGSF21	84966	broad.mit.edu	37	1	18661423	18661423	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:18661423G>T	uc001bau.1	+	4	726	c.343G>T	c.(343-345)GAG>TAG	p.E115*		NM_032880	NP_116269	Q96ID5	IGS21_HUMAN	immunoglobin superfamily, member 21 precursor	115	Ig-like 1.					extracellular region				ovary(2)|large_intestine(1)|skin(1)	4		Colorectal(325;0.000147)|Renal(390;0.00145)|all_lung(284;0.00366)|Lung NSC(340;0.00376)|Breast(348;0.00387)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0121)|BRCA - Breast invasive adenocarcinoma(304;5.52e-05)|Kidney(64;0.00103)|KIRC - Kidney renal clear cell carcinoma(64;0.0102)|STAD - Stomach adenocarcinoma(196;0.0118)|READ - Rectum adenocarcinoma(331;0.157)		TGGTCCCTATGAGTGCCATGT	0.622		NaN											1	0	1.40151e-16	1	1.48112e-16	22	52				
NBPF3	84224	broad.mit.edu	37	1	21795329	21795329	+	Silent	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:21795329C>G	uc001ber.2	+	3	632	c.282C>G	c.(280-282)CTC>CTG	p.L94L	NBPF3_uc001bes.2_Silent_p.L38L|NBPF3_uc009vqb.2_Silent_p.L94L|NBPF3_uc010odm.1_Intron	NM_032264	NP_115640	Q9H094	NBPF3_HUMAN	neuroblastoma breakpoint family, member 3	94						cytoplasm				upper_aerodigestive_tract(1)|ovary(1)	2		all_lung(284;2.16e-05)|Lung NSC(340;2.19e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|OV - Ovarian serous cystadenocarcinoma(117;7.53e-27)|COAD - Colon adenocarcinoma(152;1.18e-05)|GBM - Glioblastoma multiforme(114;3.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000143)|STAD - Stomach adenocarcinoma(196;0.00306)|KIRC - Kidney renal clear cell carcinoma(1967;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		TCAGAAACCTCAAACAGAAAT	0.473		NaN									OREG0013205	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	1	0	36	128				
HSPG2	3339	broad.mit.edu	37	1	22203044	22203044	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:22203044G>A	uc001bfj.2	-	22	2827	c.2787C>T	c.(2785-2787)GTC>GTT	p.V929V	HSPG2_uc009vqd.2_Silent_p.V930V	NM_005529	NP_005520	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2 precursor	929	Laminin EGF-like 5; first part.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			ovary(5)|large_intestine(2)|central_nervous_system(1)|skin(1)	9		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	AGTGGCGACTGACACCCATGC	0.622		NaN											0	0	0	1	0	19	52				
ZBTB40	9923	broad.mit.edu	37	1	22832611	22832611	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:22832611G>A	uc001bft.2	+	7	1748	c.1237G>A	c.(1237-1239)GAA>AAA	p.E413K	ZBTB40_uc001bfu.2_Missense_Mutation_p.E413K|ZBTB40_uc009vqi.1_Missense_Mutation_p.E301K|ZBTB40_uc001bfv.1_Missense_Mutation_p.E42K	NM_001083621	NP_001077090	Q9NUA8	ZBT40_HUMAN	zinc finger and BTB domain containing 40	413					bone mineralization|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216)		CAGAATGACTGAAGAGAAGAC	0.483		NaN											0	0	0	1	0	7	51				
CNR2	1269	broad.mit.edu	37	1	24201626	24201626	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:24201626G>A	uc001bif.2	-	2	609	c.482C>T	c.(481-483)TCA>TTA	p.S161L		NM_001841	NP_001832	P34972	CNR2_HUMAN	cannabinoid receptor 2 (macrophage)	161	Helical; Name=4; (Potential).				behavior|G-protein signaling, coupled to cyclic nucleotide second messenger|immune response|inflammatory response	dendrite|integral to plasma membrane|perikaryon	cannabinoid receptor activity			skin(2)|central_nervous_system(1)	3		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Ovarian(437;0.00348)|Breast(348;0.00957)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.32e-24)|Colorectal(126;6.09e-08)|COAD - Colon adenocarcinoma(152;3.33e-06)|GBM - Glioblastoma multiforme(114;2.9e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00359)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.146)	Nabilone(DB00486)	GACTAGTGCTGAGAGGACCCA	0.587		NaN											0	0	0	1	0	23	64				
MAP3K6	9064	broad.mit.edu	37	1	27683551	27683551	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:27683551C>A	uc001bny.1	-	24	3562	c.3313G>T	c.(3313-3315)GAC>TAC	p.D1105Y	MAP3K6_uc009vsw.1_Missense_Mutation_p.D1097Y	NM_004672	NP_004663	O95382	M3K6_HUMAN	mitogen-activated protein kinase kinase kinase	1105					activation of JUN kinase activity		ATP binding|magnesium ion binding|MAP kinase kinase kinase activity			breast(4)|lung(3)|ovary(1)|central_nervous_system(1)	9		all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.69e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00132)|KIRC - Kidney renal clear cell carcinoma(1967;0.00163)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		AGCAGTGAGTCCAGAACGAAC	0.652		NaN											1	0	1.67942e-08	1	1.74647e-08	15	49				
OPRD1	4985	broad.mit.edu	37	1	29189416	29189416	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:29189416C>T	uc001brf.1	+	3	982	c.740C>T	c.(739-741)TCG>TTG	p.S247L		NM_000911	NP_000902	P41143	OPRD_HUMAN	opioid receptor, delta 1	247	Cytoplasmic (Potential).				immune response|protein import into nucleus, translocation	integral to plasma membrane	delta-opioid receptor activity|protein binding			ovary(1)|central_nervous_system(1)	2		Colorectal(325;3.46e-05)|Lung NSC(340;0.000947)|all_lung(284;0.00131)|Renal(390;0.00758)|Breast(348;0.00765)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;1.29e-07)|COAD - Colon adenocarcinoma(152;7.51e-06)|STAD - Stomach adenocarcinoma(196;0.00306)|BRCA - Breast invasive adenocarcinoma(304;0.0241)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)	Butorphanol(DB00611)|Codeine(DB00318)|Fentanyl(DB00813)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Loperamide(DB00836)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pimozide(DB01100)|Propoxyphene(DB00647)	CGCCTGCTGTCGGGCTCCAAG	0.632		NaN											0	0	0	1	0	14	34				
LAPTM5	7805	broad.mit.edu	37	1	31210457	31210457	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:31210457G>C	uc001bsc.2	-	6	691	c.600C>G	c.(598-600)ATC>ATG	p.I200M		NM_006762	NP_006753	Q13571	LAPM5_HUMAN	lysosomal protein transmembrane 5	200	Helical; (Potential).				transport	integral to plasma membrane|lysosomal membrane					0		Colorectal(325;0.0199)|Myeloproliferative disorder(586;0.0393)|all_neural(195;0.0966)|Medulloblastoma(700;0.151)|Ovarian(437;0.192)		STAD - Stomach adenocarcinoma(196;0.0196)|READ - Rectum adenocarcinoma(331;0.0649)		TCACCTTGAAGATAAGGACAG	0.542		NaN											0	0	0	1	0	26	57				
KHDRBS1	10657	broad.mit.edu	37	1	32508200	32508200	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:32508200G>C	uc001bub.2	+	9	1413	c.1307G>C	c.(1306-1308)AGA>ACA	p.R436T	KHDRBS1_uc001bua.1_Missense_Mutation_p.R397T|KHDRBS1_uc001buc.1_RNA	NM_006559	NP_006550	Q07666	KHDR1_HUMAN	KH domain containing, RNA binding, signal	436					cell cycle arrest|cell proliferation|cell surface receptor linked signaling pathway|G2/M transition of mitotic cell cycle|mRNA processing|negative regulation of transcription, DNA-dependent|regulation of RNA export from nucleus|transcription, DNA-dependent	membrane|nucleus	DNA binding|RNA binding|SH3 domain binding|SH3/SH2 adaptor activity			ovary(1)	1		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				GGAGCATACAGAGAGCACCCA	0.468		NaN											0	0	0	1	0	15	33				
IQCC	55721	broad.mit.edu	37	1	32671825	32671825	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:32671825G>A	uc001bum.2	+	2	160	c.113G>A	c.(112-114)CGA>CAA	p.R38Q	IQCC_uc009vua.2_Missense_Mutation_p.R118Q|IQCC_uc010ogz.1_5'UTR|DCDC2B_uc001bun.2_5'Flank	NM_018134	NP_060604	Q4KMZ1	IQCC_HUMAN	IQ motif containing C isoform 2	38								p.R38G(1)		ovary(4)	4		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				GCGATTGTACGAGAGGTCGAG	0.612		NaN											0	0	0	1	0	35	108				
IQCC	55721	broad.mit.edu	37	1	32673000	32673000	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:32673000G>C	uc001bum.2	+	5	765	c.718G>C	c.(718-720)GAG>CAG	p.E240Q	IQCC_uc009vua.2_Missense_Mutation_p.E320Q|IQCC_uc010ogz.1_Missense_Mutation_p.E140Q|DCDC2B_uc001bun.2_5'Flank	NM_018134	NP_060604	Q4KMZ1	IQCC_HUMAN	IQ motif containing C isoform 2	240										ovary(4)	4		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				GACCACTGGAGAGCTAGAACA	0.547		NaN											0	0	0	1	0	22	49				
TSSK3	81629	broad.mit.edu	37	1	32828367	32828367	+	Nonsense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:32828367C>G	uc001bvf.2	+	1	506	c.65C>G	c.(64-66)TCA>TGA	p.S22*	uc001bve.1_RNA	NM_052841	NP_443073	Q96PN8	TSSK3_HUMAN	testis-specific serine kinase 3	22	ATP (By similarity).|Protein kinase.				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding|magnesium ion binding|protein serine/threonine kinase activity			stomach(1)	1		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.17)|Breast(348;0.212)				GGGACCTACTCAAAAGTCAAA	0.507		NaN											0	0	0	1	0	52	162				
RBBP4	5928	broad.mit.edu	37	1	33138099	33138099	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:33138099G>A	uc001bvr.2	+	9	1174	c.1015G>A	c.(1015-1017)GAT>AAT	p.D339N	RBBP4_uc001bvs.2_Missense_Mutation_p.D338N|RBBP4_uc010ohj.1_Missense_Mutation_p.D87N|RBBP4_uc010ohk.1_Missense_Mutation_p.D304N	NM_005610	NP_005601	Q09028	RBBP4_HUMAN	retinoblastoma binding protein 4 isoform a	339	WD 5.				cell cycle|CenH3-containing nucleosome assembly at centromere|DNA replication|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|ESC/E(Z) complex|NuRD complex|NURF complex|Sin3 complex	histone binding|histone deacetylase binding			ovary(1)	1		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)				CAGTGGTACTGATCGCAGACT	0.358		NaN											0	0	0	1	0	16	22				
DLGAP3	58512	broad.mit.edu	37	1	35370141	35370141	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:35370141C>T	uc001byc.2	-	1	844	c.844G>A	c.(844-846)GAG>AAG	p.E282K		NM_001080418	NP_001073887	O95886	DLGP3_HUMAN	discs, large (Drosophila) homolog-associated	282					cell-cell signaling	cell junction|postsynaptic density|postsynaptic membrane				ovary(3)	3		Myeloproliferative disorder(586;0.0393)				CCACCAGGCTCCCCAGGGGGC	0.677		NaN											0	0	0	1	0	33	146				
EIF2C3	192669	broad.mit.edu	37	1	36475127	36475127	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:36475127C>G	uc001bzp.2	+	9	1337	c.1081C>G	c.(1081-1083)CAG>GAG	p.Q361E	EIF2C3_uc001bzq.2_Missense_Mutation_p.Q127E	NM_024852	NP_079128	Q9H9G7	AGO3_HUMAN	eukaryotic translation initiation factor 2C, 3	361					mRNA catabolic process|negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|cytosol	protein binding|RNA binding				0		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				AACAGACAATCAGACTTCCAC	0.343		NaN											0	0	0	1	0	13	40				
MAP7D1	55700	broad.mit.edu	37	1	36641826	36641826	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:36641826G>C	uc001bzz.2	+	7	1093	c.877G>C	c.(877-879)GAG>CAG	p.E293Q	MAP7D1_uc001caa.2_Missense_Mutation_p.E293Q|MAP7D1_uc001cab.2_Missense_Mutation_p.E256Q|MAP7D1_uc001cac.2_5'UTR|MAP7D1_uc001cad.2_5'Flank	NM_018067	NP_060537	Q3KQU3	MA7D1_HUMAN	MAP7 domain containing 1	293						cytoplasm|spindle				ovary(3)|breast(2)	5		Myeloproliferative disorder(586;0.0393)				GAGCGCATGGGAGAGCAGCAT	0.667		NaN											0	0	0	1	0	9	53				
CSF3R	1441	broad.mit.edu	37	1	36933742	36933742	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:36933742C>T	uc001caw.1	-	13	1835	c.1657G>A	c.(1657-1659)GAG>AAG	p.E553K	CSF3R_uc001cat.1_Missense_Mutation_p.E116K|CSF3R_uc009vvc.1_Missense_Mutation_p.E82K|CSF3R_uc001cau.1_5'UTR|CSF3R_uc001cav.1_Missense_Mutation_p.E553K|CSF3R_uc001cax.1_Missense_Mutation_p.E553K|CSF3R_uc001cay.1_Missense_Mutation_p.E553K	NM_000760	NP_000751	Q99062	CSF3R_HUMAN	colony stimulating factor 3 receptor isoform a	553	Fibronectin type-III 5.|Extracellular (Potential).				cell adhesion|defense response	extracellular region|integral to plasma membrane	cytokine receptor activity			central_nervous_system(2)|ovary(1)	3		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)			Filgrastim(DB00099)|Pegfilgrastim(DB00019)	TTCCCCAGCTCAGGGGGCTCA	0.592		NaN											0	0	0	1	0	30	81				
TRIT1	54802	broad.mit.edu	37	1	40313303	40313303	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:40313303G>A	uc010oiz.1	-	7	859	c.845C>T	c.(844-846)TCA>TTA	p.S282L	TRIT1_uc001cec.3_RNA|TRIT1_uc001ced.3_Intron|TRIT1_uc001cee.3_RNA|TRIT1_uc001cef.3_RNA|TRIT1_uc001ceg.3_Missense_Mutation_p.S36L|TRIT1_uc001ceh.3_Missense_Mutation_p.S36L|TRIT1_uc009vvv.2_Missense_Mutation_p.S141L|TRIT1_uc001cei.3_Missense_Mutation_p.S36L|TRIT1_uc001ceq.2_Intron|TRIT1_uc001cek.2_Intron|TRIT1_uc009vvx.2_Intron|TRIT1_uc001cel.2_Intron|TRIT1_uc001cem.2_Missense_Mutation_p.S200L|TRIT1_uc001cen.2_Missense_Mutation_p.S36L|TRIT1_uc001ceo.2_Missense_Mutation_p.S36L|TRIT1_uc001cep.2_Missense_Mutation_p.S36L	NM_017646	NP_060116	Q9H3H1	MOD5_HUMAN	tRNA isopentenyltransferase 1 precursor	282	Interaction with substrate tRNA (By similarity).				tRNA processing	mitochondrion	ATP binding|metal ion binding|tRNA dimethylallyltransferase activity			ovary(1)	1	all_cancers(7;4.55e-14)|all_lung(5;1.23e-16)|all_epithelial(6;2.17e-16)|Lung NSC(20;7.03e-07)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;3.29e-18)|Epithelial(16;3.07e-17)|all cancers(16;6.21e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			GAAGCCAATTGATTGGAAGAT	0.378		NaN											0	0	0	1	0	43	111				
ZNF684	127396	broad.mit.edu	37	1	41006357	41006357	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:41006357G>A	uc001cft.1	+	3	366	c.115G>A	c.(115-117)GAG>AAG	p.E39K		NM_152373	NP_689586	Q5T5D7	ZN684_HUMAN	zinc finger protein 684	39	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;5.42e-18)			TGTGATGTTGGAGAACTATAG	0.433		NaN											0	0	0	1	0	34	117				
ERMAP	114625	broad.mit.edu	37	1	43308331	43308331	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:43308331G>C	uc001cic.1	+	12	1126	c.856G>C	c.(856-858)GAG>CAG	p.E286Q	ERMAP_uc001cid.1_RNA|ERMAP_uc001cie.1_Missense_Mutation_p.E286Q|ERMAP_uc001cif.1_Missense_Mutation_p.E196Q	NM_001017922	NP_001017922	Q96PL5	ERMAP_HUMAN	erythroblast membrane-associated protein	286	Cytoplasmic (Potential).|B30.2/SPRY.		Missing (in Sc-3 allele).			integral to membrane|plasma membrane				ovary(1)	1	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				CCTAGGCTCTGAGTACTTCAC	0.507		NaN											0	0	0	1	0	27	124				
TOE1	114034	broad.mit.edu	37	1	45809319	45809319	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:45809319C>T	uc009vxq.2	+	8	2061	c.1478C>T	c.(1477-1479)TCT>TTT	p.S493F	TOE1_uc001cnq.3_RNA|TOE1_uc010olm.1_Missense_Mutation_p.S413F|TOE1_uc001cnr.3_RNA	NM_025077	NP_079353	Q96GM8	TOE1_HUMAN	target of EGR1, member 1 (nuclear)	493						nuclear speck|nucleolus	nucleic acid binding|zinc ion binding			central_nervous_system(1)	1	Acute lymphoblastic leukemia(166;0.155)					AGCCAGTTCTCTCGTTCCTCC	0.532		NaN											0	0	0	1	0	28	90				
TESK2	10420	broad.mit.edu	37	1	45811142	45811142	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:45811142G>C	uc001cns.1	-	11	1489	c.1086C>G	c.(1084-1086)ATC>ATG	p.I362M	TESK2_uc009vxr.1_Missense_Mutation_p.I333M|TESK2_uc010olo.1_Missense_Mutation_p.I279M|TESK2_uc009vxs.1_Missense_Mutation_p.I154M	NM_007170	NP_009101	Q96S53	TESK2_HUMAN	testis-specific protein kinase 2	362					actin cytoskeleton organization|focal adhesion assembly|spermatogenesis	nucleus	ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(2)|breast(2)|pancreas(1)	5	Acute lymphoblastic leukemia(166;0.155)					GAGACAGCCAGATGGTACGTC	0.537		NaN											0	0	0	1	0	15	57				
TESK2	10420	broad.mit.edu	37	1	45811226	45811226	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:45811226G>A	uc001cns.1	-	11	1405	c.1002C>T	c.(1000-1002)CTC>CTT	p.L334L	TESK2_uc009vxr.1_Silent_p.L305L|TESK2_uc010olo.1_Silent_p.L251L|TESK2_uc009vxs.1_Silent_p.L126L	NM_007170	NP_009101	Q96S53	TESK2_HUMAN	testis-specific protein kinase 2	334					actin cytoskeleton organization|focal adhesion assembly|spermatogenesis	nucleus	ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(2)|breast(2)|pancreas(1)	5	Acute lymphoblastic leukemia(166;0.155)					CTTTCTCCAAGAGTCCTGAAG	0.438		NaN											0	0	0	1	0	12	50				
RAD54L	8438	broad.mit.edu	37	1	46715746	46715746	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:46715746G>C	uc009vye.2	+	4	279	c.165G>C	c.(163-165)TTG>TTC	p.L55F	RAD54L_uc001cpl.2_Missense_Mutation_p.L55F	NM_001142548	NP_001136020	Q92698	RAD54_HUMAN	RAD54-like protein	55					meiosis	nucleus	ATP binding|DNA binding|helicase activity			ovary(2)|skin(1)	3	Acute lymphoblastic leukemia(166;0.155)	Breast(1374;0.0634)		KIRC - Kidney renal clear cell carcinoma(1967;0.000896)		GGAAACCTTTGAGTCAGCTAA	0.498		NaN						Direct_reversal_of_damage|Homologous_recombination					0	0	0	1	0	32	97				
DMRTA2	63950	broad.mit.edu	37	1	50884475	50884475	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:50884475G>A	uc010ona.1	-	2	1587	c.1491C>T	c.(1489-1491)TTC>TTT	p.F497F	DMRTA2_uc010onb.1_Silent_p.F497F	NM_032110	NP_115486	Q96SC8	DMTA2_HUMAN	DMRT-like family A2	497	Ala-rich.				sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity				0						TGGGTGGGCGGAAGCCGAGCG	0.726		NaN											0	0	0	1	0	8	17				
NRD1	4898	broad.mit.edu	37	1	52258060	52258060	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:52258060C>G	uc001ctc.3	-	27	3338	c.3016G>C	c.(3016-3018)GAG>CAG	p.E1006Q	NRD1_uc009vzb.2_Missense_Mutation_p.E701Q|NRD1_uc001ctd.3_Missense_Mutation_p.E938Q|NRD1_uc001cte.2_Missense_Mutation_p.E874Q|NRD1_uc001ctf.2_Missense_Mutation_p.E938Q	NM_002525	NP_002516	O43847	NRDC_HUMAN	nardilysin isoform a	937					cell migration|cell proliferation|neuromuscular junction development|positive regulation of membrane protein ectodomain proteolysis|proteolysis|regulation of endopeptidase activity	cell surface|cytosol	epidermal growth factor binding|metalloendopeptidase activity|zinc ion binding				0						ACAAGCAGCTCCATAAGCGTA	0.488		NaN											0	0	0	1	0	12	63				
ZCCHC11	23318	broad.mit.edu	37	1	52941198	52941198	+	Missense_Mutation	SNP	G	G	A	rs143625963	byFrequency	TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:52941198G>A	uc001ctx.2	-	13	2267	c.2033C>T	c.(2032-2034)TCA>TTA	p.S678L	ZCCHC11_uc001cty.2_Missense_Mutation_p.S678L|ZCCHC11_uc001ctz.2_Missense_Mutation_p.S678L|ZCCHC11_uc009vze.1_Missense_Mutation_p.S678L|ZCCHC11_uc009vzf.1_Missense_Mutation_p.S437L|ZCCHC11_uc001cub.2_Missense_Mutation_p.S678L	NM_015269	NP_056084	Q5TAX3	TUT4_HUMAN	zinc finger, CCHC domain containing 11 isoform	678	PAP-associated 1.				miRNA catabolic process|pre-miRNA processing|RNA 3'-end processing|stem cell maintenance	cytoplasm|nucleolus	nucleic acid binding|protein binding|protein binding|RNA uridylyltransferase activity|zinc ion binding			ovary(2)|skin(1)	3						CCTCTTGACTGAAAATGGATC	0.393		NaN											0	0	0	1	0	8	22				
PODN	127435	broad.mit.edu	37	1	53540288	53540288	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:53540288G>C	uc001cuv.2	+	4	568	c.561G>C	c.(559-561)GAG>GAC	p.E187D	PODN_uc001cuw.2_Missense_Mutation_p.E168D|PODN_uc010onr.1_Missense_Mutation_p.E168D|PODN_uc010ons.1_Intron	NM_153703	NP_714914	Q7Z5L7	PODN_HUMAN	podocan	139	LRR 2.				negative regulation of cell migration|negative regulation of cell proliferation	cytoplasm|extracellular space|proteinaceous extracellular matrix	collagen binding			ovary(1)|pancreas(1)	2						GGCTCCCAGAGAAGGCGTTTG	0.607		NaN											0	0	0	1	0	62	212				
SLC1A7	6512	broad.mit.edu	37	1	53580452	53580452	+	Missense_Mutation	SNP	C	C	G	rs149844615	byFrequency	TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:53580452C>G	uc001cuy.2	-	3	577	c.409G>C	c.(409-411)GAT>CAT	p.D137H	SLC1A7_uc001cuz.3_Missense_Mutation_p.D137H|uc001cva.1_RNA	NM_006671	NP_006662	O00341	EAA5_HUMAN	solute carrier family 1 (glutamate transporter),	137	Extracellular (Potential).					integral to membrane|plasma membrane	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity			ovary(2)|large_intestine(1)	3				Colorectal(1306;0.234)	L-Glutamic Acid(DB00142)	AACAGGGCATCGGCTGAGCTC	0.642		NaN											0	0	0	1	0	14	42				
TACSTD2	4070	broad.mit.edu	37	1	59042364	59042364	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:59042364G>A	uc001cyz.3	-	1	803	c.465C>T	c.(463-465)CTC>CTT	p.L155L		NM_002353	NP_002344	P09758	TACD2_HUMAN	tumor-associated calcium signal transducer 2	155	Extracellular (Potential).				cell proliferation|cell surface receptor linked signaling pathway|visual perception	cytosol|integral to plasma membrane	receptor activity				0	all_cancers(7;6.54e-05)					GCAGGTCAATGAGGATGTGGT	0.692		NaN											0	0	0	1	0	7	22				
FGGY	55277	broad.mit.edu	37	1	59844459	59844459	+	Missense_Mutation	SNP	C	C	A	rs146728237	byFrequency	TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:59844459C>A	uc001czi.3	+	5	716	c.504C>A	c.(502-504)TTC>TTA	p.F168L	FGGY_uc001czg.2_Missense_Mutation_p.F56L|FGGY_uc001czh.2_RNA|FGGY_uc009wac.2_Missense_Mutation_p.F168L|FGGY_uc001czj.3_Missense_Mutation_p.F168L|FGGY_uc001czk.3_Missense_Mutation_p.F56L|FGGY_uc001czl.3_Missense_Mutation_p.F80L	NM_018291	NP_060761	Q96C11	FGGY_HUMAN	FGGY carbohydrate kinase domain containing	168					carbohydrate metabolic process|cell death|neuron homeostasis		kinase activity|phosphotransferase activity, alcohol group as acceptor			ovary(1)	1	all_cancers(7;7.36e-05)					CGGGACATTTCTTTGATCTCC	0.403		NaN											1	0	2.61681e-11	1	2.73642e-11	13	57				
INADL	10207	broad.mit.edu	37	1	62483543	62483543	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:62483543C>T	uc001dab.2	+	29	3997	c.3883C>T	c.(3883-3885)CTG>TTG	p.L1295L	INADL_uc009waf.1_Silent_p.L1295L|INADL_uc001daa.2_Silent_p.L1295L|INADL_uc001dad.3_Silent_p.L992L|INADL_uc001dac.2_RNA|INADL_uc010oot.1_Silent_p.L79L|INADL_uc009wag.2_Silent_p.L79L|INADL_uc010oou.1_Intron	NM_176877	NP_795352	Q8NI35	INADL_HUMAN	InaD-like	1295	PDZ 7.				intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding			ovary(3)|skin(1)	4						CAATCAGATTCTGTATGGAAG	0.338		NaN											0	0	0	1	0	25	53				
FAM73A	374986	broad.mit.edu	37	1	78269066	78269066	+	Nonsense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:78269066C>G	uc001dhx.2	+	4	517	c.485C>G	c.(484-486)TCA>TGA	p.S162*	FAM73A_uc010ork.1_Nonsense_Mutation_p.S162*|FAM73A_uc010orl.1_Nonsense_Mutation_p.S124*|FAM73A_uc001dhy.1_5'UTR	NM_198549	NP_940951	Q8NAN2	FA73A_HUMAN	hypothetical protein LOC374986	162						integral to membrane				ovary(1)	1				Colorectal(170;0.226)		AGTAAATATTCAGGTTCTGCA	0.303		NaN											0	0	0	1	0	10	36				
CLCA1	1179	broad.mit.edu	37	1	86952367	86952367	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:86952367C>T	uc001dlt.2	+	7	1242	c.1113C>T	c.(1111-1113)CTC>CTT	p.L371L	CLCA1_uc001dls.1_Silent_p.L310L	NM_001285	NP_001276	A8K7I4	CLCA1_HUMAN	chloride channel accessory 1 precursor	371	VWFA.				calcium ion transport	extracellular space|integral to plasma membrane	chloride channel activity			ovary(1)	1		Lung NSC(277;0.239)		all cancers(265;0.0249)|Epithelial(280;0.0476)		GGGACACACTCGCCAAAAGAT	0.488		NaN											0	0	0	1	0	31	82				
TGFBR3	7049	broad.mit.edu	37	1	92177859	92177859	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:92177859G>C	uc001doh.2	-	13	2573	c.2107C>G	c.(2107-2109)CTA>GTA	p.L703V	TGFBR3_uc009wde.2_Intron|TGFBR3_uc010osy.1_Missense_Mutation_p.L661V|TGFBR3_uc001doi.2_Missense_Mutation_p.L702V|TGFBR3_uc001doj.2_Missense_Mutation_p.L702V	NM_003243	NP_003234	Q03167	TGBR3_HUMAN	transforming growth factor, beta receptor III	703	ZP.|Extracellular (Potential).				BMP signaling pathway|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cell growth|cell migration|definitive erythrocyte differentiation|heart trabecula formation|immune response|intracellular protein kinase cascade|liver development|negative regulation of cellular component movement|negative regulation of epithelial cell proliferation|palate development|pathway-restricted SMAD protein phosphorylation|response to follicle-stimulating hormone stimulus|response to luteinizing hormone stimulus|response to prostaglandin E stimulus|transforming growth factor beta receptor signaling pathway|ventricular cardiac muscle tissue morphogenesis	external side of plasma membrane|extracellular space|inhibin-betaglycan-ActRII complex|integral to plasma membrane|intracellular membrane-bounded organelle	coreceptor activity|heparin binding|PDZ domain binding|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type III|type II transforming growth factor beta receptor binding			ovary(3)	3		all_lung(203;0.00719)|Lung NSC(277;0.0268)		all cancers(265;0.0108)|Epithelial(280;0.0825)		TCACACTGTAGAAAGAGCAGT	0.488		NaN											0	0	0	1	0	16	53				
GLMN	11146	broad.mit.edu	37	1	92752071	92752071	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:92752071G>A	uc001dor.2	-	7	826	c.711C>T	c.(709-711)TTC>TTT	p.F237F	GLMN_uc009wdg.2_RNA|GLMN_uc001dos.2_Silent_p.F237F	NM_053274	NP_444504	Q92990	GLMN_HUMAN	glomulin	237					muscle cell differentiation|negative regulation of T cell proliferation|positive regulation of cytokine secretion|positive regulation of interleukin-2 biosynthetic process|positive regulation of phosphorylation|regulation of gene expression, epigenetic|vasculogenesis	intracellular	hepatocyte growth factor receptor binding			skin(1)	1		all_lung(203;0.00827)|Lung NSC(277;0.0295)		all cancers(265;0.00702)|GBM - Glioblastoma multiforme(16;0.0381)|Epithelial(280;0.0989)		CAAAATACCTGAAAGGATCAT	0.333		NaN							Multiple_Glomus_Tumors_(of_the_Skin)_Familial				0	0	0	1	0	16	38				
GLMN	11146	broad.mit.edu	37	1	92752143	92752143	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:92752143G>A	uc001dor.2	-	7	754	c.639C>T	c.(637-639)TTC>TTT	p.F213F	GLMN_uc009wdg.2_RNA|GLMN_uc001dos.2_Silent_p.F213F	NM_053274	NP_444504	Q92990	GLMN_HUMAN	glomulin	213					muscle cell differentiation|negative regulation of T cell proliferation|positive regulation of cytokine secretion|positive regulation of interleukin-2 biosynthetic process|positive regulation of phosphorylation|regulation of gene expression, epigenetic|vasculogenesis	intracellular	hepatocyte growth factor receptor binding			skin(1)	1		all_lung(203;0.00827)|Lung NSC(277;0.0295)		all cancers(265;0.00702)|GBM - Glioblastoma multiforme(16;0.0381)|Epithelial(280;0.0989)		TCAAGCTTTTGAAACAACTAA	0.318		NaN							Multiple_Glomus_Tumors_(of_the_Skin)_Familial				0	0	0	1	0	14	40				
EVI5	7813	broad.mit.edu	37	1	92979392	92979392	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:92979392C>T	uc001dox.2	-	18	2264	c.2254G>A	c.(2254-2256)GAA>AAA	p.E752K	EVI5_uc010otf.1_Missense_Mutation_p.E763K	NM_005665	NP_005656	O60447	EVI5_HUMAN	ecotropic viral integration site 5	752	Targeting to the centrosomes.|Interaction with AURKB and INCENP.				cell cycle|cell division|cell proliferation|multicellular organismal development	microtubule organizing center|nucleus|spindle	protein binding|Rab GTPase activator activity			ovary(1)|breast(1)	2		all_lung(203;0.00146)|Lung NSC(277;0.00565)|all_neural(321;0.185)|Melanoma(281;0.193)|Glioma(108;0.203)		Epithelial(280;8.09e-25)|OV - Ovarian serous cystadenocarcinoma(397;1.27e-22)|all cancers(265;1.74e-21)|GBM - Glioblastoma multiforme(16;0.00233)|BRCA - Breast invasive adenocarcinoma(282;0.211)		ACACCAGTTTCCTGTAAGGAA	0.428		NaN											0	0	0	1	0	17	81				
ARHGAP29	9411	broad.mit.edu	37	1	94668138	94668138	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:94668138C>G	uc001dqj.3	-	11	1474	c.1105G>C	c.(1105-1107)GAA>CAA	p.E369Q	ARHGAP29_uc009wdq.1_RNA|ARHGAP29_uc001dql.2_Missense_Mutation_p.E369Q	NM_004815	NP_004806	Q52LW3	RHG29_HUMAN	PTPL1-associated RhoGAP 1	369	Potential.				Rho protein signal transduction	cytosol	metal ion binding|Rho GTPase activator activity			breast(4)|skin(3)|lung(2)|upper_aerodigestive_tract(1)|ovary(1)	11		all_lung(203;0.000732)|Lung NSC(277;0.00328)		all cancers(265;0.0187)|Epithelial(280;0.159)		CGCTTTTTTTCTAGTTGCTTG	0.393		NaN											0	0	0	1	0	29	89				
DPYD	1806	broad.mit.edu	37	1	97915689	97915689	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:97915689C>T	uc001drv.2	-	14	1968	c.1831G>A	c.(1831-1833)GAG>AAG	p.E611K		NM_000110	NP_000101	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase isoform 1	611					'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity			ovary(3)|skin(3)|breast(2)	8		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Enfuvirtide(DB00109)	CTGATGAGCTCAATATTCAGA	0.448		NaN											0	0	0	1	0	19	81				
AGL	178	broad.mit.edu	37	1	100357997	100357997	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:100357997G>C	uc001dsi.1	+	24	3493	c.3093G>C	c.(3091-3093)CAG>CAC	p.Q1031H	AGL_uc001dsj.1_Missense_Mutation_p.Q1031H|AGL_uc001dsk.1_Missense_Mutation_p.Q1031H|AGL_uc001dsl.1_Missense_Mutation_p.Q1031H|AGL_uc001dsm.1_Missense_Mutation_p.Q1015H|AGL_uc001dsn.1_Missense_Mutation_p.Q1014H	NM_000642	NP_000633	P35573	GDE_HUMAN	amylo-1,6-glucosidase,	1031	4-alpha-glucanotransferase.				glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol|isoamylase complex|nucleus	4-alpha-glucanotransferase activity|amylo-alpha-1,6-glucosidase activity|cation binding			ovary(1)|central_nervous_system(1)|skin(1)	3		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)		GCTTTGTTCAGAATGGTTCAA	0.348		NaN											0	0	0	1	0	9	47				
SLC35A3	23443	broad.mit.edu	37	1	100464840	100464840	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:100464840C>G	uc001dsp.1	+	3	408	c.211C>G	c.(211-213)CGA>GGA	p.R71G	SLC35A3_uc001dsq.1_Missense_Mutation_p.R71G|SLC35A3_uc009wdy.1_Missense_Mutation_p.R71G|SLC35A3_uc001dsr.1_Missense_Mutation_p.R113G|SLC35A3_uc001dss.1_Translation_Start_Site	NM_012243	NP_036375	Q9Y2D2	S35A3_HUMAN	solute carrier family 35 member 3A	71					UDP-N-acetylglucosamine metabolic process	Golgi membrane|integral to membrane	sugar:hydrogen symporter activity|UDP-N-acetylglucosamine transmembrane transporter activity				0		all_epithelial(167;0.000686)|all_lung(203;0.0154)|Lung NSC(277;0.0155)		Epithelial(280;0.124)|all cancers(265;0.198)|Lung(183;0.199)		AGCACTGAATCGAGTACTACA	0.239		NaN											0	0	0	1	0	14	25				
GPR88	54112	broad.mit.edu	37	1	101004970	101004970	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:101004970C>G	uc001dth.2	+	2	852	c.448C>G	c.(448-450)CAG>GAG	p.Q150E		NM_022049	NP_071332	Q9GZN0	GPR88_HUMAN	G-protein coupled receptor 88	150	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity				0		all_epithelial(167;1.19e-05)|all_lung(203;0.00159)|Lung NSC(277;0.00171)		Epithelial(280;0.0372)|all cancers(265;0.0558)|COAD - Colon adenocarcinoma(174;0.141)|Colorectal(144;0.156)|Lung(183;0.189)		CGCCACCTACCAGGCGCTGTA	0.741		NaN											0	0	0	1	0	3	17				
WDR47	22911	broad.mit.edu	37	1	109517317	109517317	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:109517317C>T	uc001dwj.2	-	14	2834	c.2458G>A	c.(2458-2460)GAA>AAA	p.E820K	WDR47_uc001dwl.2_Missense_Mutation_p.E828K|WDR47_uc001dwi.2_Missense_Mutation_p.E821K|WDR47_uc010ovf.1_Missense_Mutation_p.E745K	NM_001142551	NP_001136023	O94967	WDR47_HUMAN	WD repeat domain 47 isoform 3	820	WD 5.									ovary(1)	1		all_lung(203;0.00519)|all_epithelial(167;0.00611)|Lung NSC(277;0.00822)		Colorectal(144;0.0165)|Lung(183;0.0484)|COAD - Colon adenocarcinoma(174;0.128)|Epithelial(280;0.168)|all cancers(265;0.201)|LUSC - Lung squamous cell carcinoma(189;0.244)		CTAGAATCTTCTTGACCTGTG	0.438		NaN											0	0	0	1	0	7	19				
CELSR2	1952	broad.mit.edu	37	1	109794764	109794764	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:109794764C>T	uc001dxa.3	+	1	2124	c.2063C>T	c.(2062-2064)TCC>TTC	p.S688F		NM_001408	NP_001399	Q9HCU4	CELR2_HUMAN	cadherin EGF LAG seven-pass G-type receptor 2	688	Cadherin 5.|Extracellular (Potential).				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			ovary(4)|lung(3)|skin(1)	8		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		GTTACCGCCTCCGATGGCACT	0.557		NaN											0	0	0	1	0	40	65				
SORT1	6272	broad.mit.edu	37	1	109865577	109865577	+	Silent	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:109865577G>C	uc001dxm.1	-	15	2050	c.2001C>G	c.(1999-2001)CTC>CTG	p.L667L	SORT1_uc010ovi.1_Silent_p.L530L	NM_002959	NP_002950	Q99523	SORT_HUMAN	sortilin 1 preproprotein	667	Interactions with LRPAP1 and NGFB.|Extracellular (Potential).				endocytosis|endosome to lysosome transport|endosome transport via multivesicular body sorting pathway|glucose import|Golgi to endosome transport|induction of apoptosis by extracellular signals|myotube differentiation|negative regulation of apoptosis|negative regulation of lipoprotein lipase activity|neuropeptide signaling pathway|ossification|plasma membrane to endosome transport|regulation of gene expression|response to insulin stimulus|vesicle organization	cell surface|coated pit|early endosome|endoplasmic reticulum membrane|endosome membrane|Golgi cisterna membrane|integral to membrane|lysosomal membrane|microsome|nuclear membrane|perinuclear region of cytoplasm|plasma membrane	enzyme binding|nerve growth factor binding|nerve growth factor receptor activity|neurotensin receptor activity, non-G-protein coupled			ovary(1)	1		all_epithelial(167;4.69e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Lung(183;0.0529)|Colorectal(144;0.142)|Epithelial(280;0.145)|Kidney(133;0.169)|all cancers(265;0.184)		CCAGGGAACAGAGGCAGATGG	0.488		NaN											0	0	0	1	0	11	43				
C1orf103	55791	broad.mit.edu	37	1	111492647	111492647	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:111492647C>T	uc001eaa.2	-	3	1951	c.1695G>A	c.(1693-1695)AAG>AAA	p.K565K	C1orf103_uc001dzz.2_Silent_p.K29K|C1orf103_uc001eab.2_Silent_p.K29K|C1orf103_uc001eac.1_Silent_p.K29K	NM_018372	NP_060842	Q5T3J3	LRIF1_HUMAN	receptor-interacting factor 1 isoform 1	565					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix	protein binding				0		all_cancers(81;1.02e-05)|all_epithelial(167;1.87e-05)|all_lung(203;0.000234)|Lung NSC(277;0.000451)		Lung(183;0.0155)|Colorectal(144;0.0314)|all cancers(265;0.082)|LUSC - Lung squamous cell carcinoma(189;0.0826)|Epithelial(280;0.0891)|COAD - Colon adenocarcinoma(174;0.134)		CAGCATCACTCTTCAGATGTA	0.383		NaN											0	0	0	1	0	16	61				
DENND2D	79961	broad.mit.edu	37	1	111734819	111734819	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:111734819G>A	uc001eak.1	-	8	1115	c.915C>T	c.(913-915)TTC>TTT	p.F305F	DENND2D_uc001eal.1_Silent_p.F302F	NM_024901	NP_079177	Q9H6A0	DEN2D_HUMAN	DENN/MADD domain containing 2D	305	DENN.									ovary(1)	1		all_cancers(81;0.00198)|all_epithelial(167;0.000686)|all_lung(203;0.00318)|Lung NSC(277;0.00499)		Lung(183;0.0162)|Colorectal(144;0.069)|all cancers(265;0.0757)|LUSC - Lung squamous cell carcinoma(189;0.0845)|Epithelial(280;0.114)|COAD - Colon adenocarcinoma(174;0.14)		CTCCAACCATGAAGGGGGTGG	0.473		NaN											0	0	0	1	0	17	52				
MOV10	4343	broad.mit.edu	37	1	113241408	113241408	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:113241408G>C	uc001eck.2	+	17	2850	c.2580G>C	c.(2578-2580)TTG>TTC	p.L860F	MOV10_uc001ecl.2_Intron|MOV10_uc001ecn.2_Missense_Mutation_p.L860F|MOV10_uc001ecm.2_Missense_Mutation_p.L800F	NM_001130079	NP_001123551	Q9HCE1	MOV10_HUMAN	Mov10, Moloney leukemia virus 10, homolog	860					mRNA cleavage involved in gene silencing by miRNA|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body	ATP binding|helicase activity|protein binding|RNA binding			ovary(4)|skin(1)	5	Lung SC(450;0.246)	all_cancers(81;3.31e-11)|all_epithelial(167;5.69e-10)|all_lung(203;3.73e-05)|Breast(1374;0.000525)|Lung NSC(69;0.000954)|Ovarian(761;0.0367)|Lung SC(238;0.114)		OV - Ovarian serous cystadenocarcinoma(397;3.99e-67)|all cancers(265;1e-62)|Epithelial(280;4.78e-61)|Lung(183;0.0234)|Colorectal(144;0.0686)|READ - Rectum adenocarcinoma(129;0.0929)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|BRCA - Breast invasive adenocarcinoma(282;0.24)		TCAAGGACTTGAAGGTGACAT	0.557		NaN											0	0	0	1	0	52	166				
MOV10	4343	broad.mit.edu	37	1	113242322	113242322	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:113242322G>A	uc001eck.2	+	18	2869	c.2599G>A	c.(2599-2601)GAA>AAA	p.E867K	MOV10_uc001ecl.2_Intron|MOV10_uc001ecn.2_Missense_Mutation_p.E867K|MOV10_uc001ecm.2_Missense_Mutation_p.E807K	NM_001130079	NP_001123551	Q9HCE1	MOV10_HUMAN	Mov10, Moloney leukemia virus 10, homolog	867					mRNA cleavage involved in gene silencing by miRNA|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body	ATP binding|helicase activity|protein binding|RNA binding			ovary(4)|skin(1)	5	Lung SC(450;0.246)	all_cancers(81;3.31e-11)|all_epithelial(167;5.69e-10)|all_lung(203;3.73e-05)|Breast(1374;0.000525)|Lung NSC(69;0.000954)|Ovarian(761;0.0367)|Lung SC(238;0.114)		OV - Ovarian serous cystadenocarcinoma(397;3.99e-67)|all cancers(265;1e-62)|Epithelial(280;4.78e-61)|Lung(183;0.0234)|Colorectal(144;0.0686)|READ - Rectum adenocarcinoma(129;0.0929)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|BRCA - Breast invasive adenocarcinoma(282;0.24)		TTCAGTAGAAGAATTCCAAGG	0.453		NaN											0	0	0	1	0	36	142				
MOV10	4343	broad.mit.edu	37	1	113242368	113242368	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:113242368G>A	uc001eck.2	+	18	2915	c.2645G>A	c.(2644-2646)CGA>CAA	p.R882Q	MOV10_uc001ecl.2_Intron|MOV10_uc001ecn.2_Missense_Mutation_p.R882Q|MOV10_uc001ecm.2_Missense_Mutation_p.R822Q	NM_001130079	NP_001123551	Q9HCE1	MOV10_HUMAN	Mov10, Moloney leukemia virus 10, homolog	882					mRNA cleavage involved in gene silencing by miRNA|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body	ATP binding|helicase activity|protein binding|RNA binding			ovary(4)|skin(1)	5	Lung SC(450;0.246)	all_cancers(81;3.31e-11)|all_epithelial(167;5.69e-10)|all_lung(203;3.73e-05)|Breast(1374;0.000525)|Lung NSC(69;0.000954)|Ovarian(761;0.0367)|Lung SC(238;0.114)		OV - Ovarian serous cystadenocarcinoma(397;3.99e-67)|all cancers(265;1e-62)|Epithelial(280;4.78e-61)|Lung(183;0.0234)|Colorectal(144;0.0686)|READ - Rectum adenocarcinoma(129;0.0929)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|BRCA - Breast invasive adenocarcinoma(282;0.24)		TCCACCGTGCGAAGCAGCCAG	0.552		NaN											0	0	0	1	0	54	171				
MAGI3	260425	broad.mit.edu	37	1	114189165	114189165	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:114189165C>T	uc001edk.2	+	12	2237	c.2056C>T	c.(2056-2058)CAG>TAG	p.Q686*	MAGI3_uc001edh.3_Nonsense_Mutation_p.Q711*|MAGI3_uc001edi.3_Nonsense_Mutation_p.Q686*|MAGI3_uc010owm.1_Nonsense_Mutation_p.Q711*|MAGI3_uc001edj.2_Nonsense_Mutation_p.Q407*	NM_001142782	NP_001136254	Q5TCQ9	MAGI3_HUMAN	membrane-associated guanylate kinase-related  3	711					apoptosis|interspecies interaction between organisms|intracellular signal transduction	nucleus|tight junction	ATP binding|guanylate kinase activity|protein binding			lung(3)|ovary(2)|central_nervous_system(1)	6	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GCCTATTCCTCAGCCTATGCC	0.383		NaN											0	0	0	1	0	8	45				
MAGI3	260425	broad.mit.edu	37	1	114226163	114226163	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:114226163G>A	uc001edk.2	+	21	4154	c.3973G>A	c.(3973-3975)GAG>AAG	p.E1325K	MAGI3_uc001edi.3_3'UTR|MAGI3_uc010owm.1_3'UTR|MAGI3_uc001edj.2_3'UTR|MAGI3_uc009wgo.2_RNA	NM_001142782	NP_001136254	Q5TCQ9	MAGI3_HUMAN	membrane-associated guanylate kinase-related  3	1350					apoptosis|interspecies interaction between organisms|intracellular signal transduction	nucleus|tight junction	ATP binding|guanylate kinase activity|protein binding			lung(3)|ovary(2)|central_nervous_system(1)	6	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CAGTAATGCTGAGCAGATCCC	0.423		NaN											0	0	0	1	0	18	52				
TRIM33	51592	broad.mit.edu	37	1	114976330	114976330	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:114976330G>C	uc001eew.2	-	5	1033	c.949C>G	c.(949-951)CAA>GAA	p.Q317E	TRIM33_uc010ows.1_5'UTR|TRIM33_uc001eex.2_Missense_Mutation_p.Q317E	NM_015906	NP_056990	Q9UPN9	TRI33_HUMAN	tripartite motif-containing 33 protein isoform	317	Necessary for oligomerization.|Potential.				negative regulation of BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination|regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent	nucleus	co-SMAD binding|DNA binding|ligase activity|R-SMAD binding|zinc ion binding			lung(4)|central_nervous_system(3)|large_intestine(1)|breast(1)|skin(1)|ovary(1)	11	all_epithelial(7;0.000132)|all_lung(7;0.00106)|Lung SC(450;0.184)	all_cancers(81;3.03e-08)|all_epithelial(167;3.24e-08)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		TTCTGATTTTGAAAAGCTTCT	0.313		NaN	T	RET	papillary thyroid								0	0	0	1	0	11	26				
CD58	965	broad.mit.edu	37	1	117078795	117078795	+	Silent	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:117078795G>C	uc001egm.2	-	3	541	c.420C>G	c.(418-420)GTC>GTG	p.V140V	CD58_uc001egn.2_RNA|CD58_uc010owy.1_Silent_p.V140V|CD58_uc001ego.1_Intron|CD58_uc001egp.3_Silent_p.V140V	NM_001779	NP_001770	P19256	LFA3_HUMAN	CD58 molecule isoform 1	140	Extracellular (Potential).|Ig-like C2-type.				blood coagulation|cell-cell adhesion|leukocyte migration	anchored to membrane|integral to plasma membrane	protein binding				0	Lung SC(450;0.225)	all_cancers(81;0.000363)|all_lung(203;0.000118)|all_epithelial(167;0.000149)|Lung NSC(69;0.000577)		Lung(183;0.0086)|LUSC - Lung squamous cell carcinoma(189;0.0528)|Colorectal(144;0.0775)|all cancers(265;0.109)|Epithelial(280;0.118)|COAD - Colon adenocarcinoma(174;0.121)		TCATGCATTGGACTTCAATGC	0.358		NaN											0	0	0	1	0	11	29				
IGSF3	3321	broad.mit.edu	37	1	117142914	117142914	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:117142914C>T	uc001egr.1	-	7	2383	c.1678G>A	c.(1678-1680)GAC>AAC	p.D560N	IGSF3_uc001egq.1_Missense_Mutation_p.D580N|IGSF3_uc001egs.1_Missense_Mutation_p.D233N	NM_001007237	NP_001007238	O75054	IGSF3_HUMAN	immunoglobulin superfamily, member 3 isoform 2	560	Ig-like C2-type 5.|Extracellular (Potential).					integral to membrane				ovary(2)	2	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)		TCAAAGGAGTCGCTGTAGGTC	0.587		NaN											0	0	0	1	0	16	38				
PTGFRN	5738	broad.mit.edu	37	1	117509931	117509931	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:117509931G>C	uc001egv.1	+	6	2175	c.2038G>C	c.(2038-2040)GAG>CAG	p.E680Q		NM_020440	NP_065173	Q9P2B2	FPRP_HUMAN	prostaglandin F2 receptor negative regulator	680	Extracellular (Potential).					endoplasmic reticulum membrane|Golgi apparatus|integral to membrane	protein binding			liver(1)	1	Lung SC(450;0.225)	all_cancers(81;0.00104)|all_lung(203;8.97e-05)|all_epithelial(167;0.000139)|Lung NSC(69;0.000446)		Lung(183;0.0704)|LUSC - Lung squamous cell carcinoma(189;0.227)|Colorectal(144;0.248)		CAATCCTATTGAGATAGACTT	0.522		NaN											0	0	0	1	0	21	69				
SPAG17	200162	broad.mit.edu	37	1	118535110	118535110	+	Silent	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:118535110C>G	uc001ehk.2	-	36	5408	c.5340G>C	c.(5338-5340)CTG>CTC	p.L1780L		NM_206996	NP_996879	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	1780						cilium|flagellar axoneme|microtubule				upper_aerodigestive_tract(2)|ovary(2)|large_intestine(1)|skin(1)	6	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		CCTGCAGCCTCAGTTTCACCT	0.463		NaN											0	0	0	1	0	24	69				
ADAM30	11085	broad.mit.edu	37	1	120436660	120436660	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:120436660C>T	uc001eij.2	-	1	2454	c.2300G>A	c.(2299-2301)GGA>GAA	p.G767E		NM_021794	NP_068566	Q9UKF2	ADA30_HUMAN	ADAM metallopeptidase domain 30 preproprotein	767	4.|Cytoplasmic (Potential).|5 X 9 AA approximate repeats.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			ovary(2)|lung(1)	3	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138)		Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117)		TTCTTCCTGTCCAGTTTTTGC	0.358		NaN											0	0	0	1	0	54	190				
PDE4DIP	9659	broad.mit.edu	37	1	144876029	144876029	+	Splice_Site	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:144876029C>G	uc001elw.3	-	29	4943	c.4652_splice	c.e29-1	p.K1551_splice	NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elk.1_Intron|PDE4DIP_uc001ell.1_Intron|PDE4DIP_uc001elm.3_Intron|PDE4DIP_uc001eln.3_Intron|PDE4DIP_uc001elo.2_Intron|PDE4DIP_uc001elx.3_Splice_Site_p.K1507_splice|PDE4DIP_uc001elv.3_Splice_Site_p.K558_splice	NM_014644	NP_055459	Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein isoform						cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			ovary(4)|haematopoietic_and_lymphoid_tissue(1)	5				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		TTATGATCCTCTGTAAACCAA	0.458		NaN	T	PDGFRB	MPD								0	0	0	1	0	37	288				
NOTCH2NL	388677	broad.mit.edu	37	1	145273377	145273377	+	Silent	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:145273377G>C	uc001emn.3	+	3	601	c.231G>C	c.(229-231)CTG>CTC	p.L77L	NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|NBPF10_uc001emp.3_5'UTR|NOTCH2NL_uc001emm.3_Silent_p.L77L|NOTCH2NL_uc001emo.2_Silent_p.L77L|NOTCH2NL_uc010oyh.1_RNA	NM_203458	NP_982283	Q7Z3S9	NT2NL_HUMAN	Notch homolog 2 N-terminal like protein	77	EGF-like 3.				cell differentiation|multicellular organismal development|Notch signaling pathway	cytoplasm|extracellular region	calcium ion binding			ovary(1)	1						GACCTTGCCTGAATGGCGGCA	0.532		NaN											0	0	0	1	0	40	574				
BCL9	607	broad.mit.edu	37	1	147091378	147091378	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:147091378C>T	uc001epq.2	+	8	2157	c.1417C>T	c.(1417-1419)CTG>TTG	p.L473L	BCL9_uc010ozr.1_Silent_p.L399L	NM_004326	NP_004317	O00512	BCL9_HUMAN	B-cell CLL/lymphoma 9	473	Pro-rich.				Wnt receptor signaling pathway	nucleus	protein binding			ovary(2)|large_intestine(2)|breast(1)|skin(1)	6	all_hematologic(923;0.115)					GATAGCGTGGCTGAAACTGCA	0.517		NaN	T	IGH@|IGL@	B-ALL								0	0	0	1	0	34	84				
BCL9	607	broad.mit.edu	37	1	147091483	147091483	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:147091483C>T	uc001epq.2	+	8	2262	c.1522C>T	c.(1522-1524)CGG>TGG	p.R508W	BCL9_uc010ozr.1_Missense_Mutation_p.R434W	NM_004326	NP_004317	O00512	BCL9_HUMAN	B-cell CLL/lymphoma 9	508	Pro-rich.				Wnt receptor signaling pathway	nucleus	protein binding			ovary(2)|large_intestine(2)|breast(1)|skin(1)	6	all_hematologic(923;0.115)					GCACGGGCCTCGGGGAGTGGT	0.567		NaN	T	IGH@|IGL@	B-ALL								0	0	0	1	0	36	152				
HORMAD1	84072	broad.mit.edu	37	1	150679155	150679155	+	Silent	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:150679155C>G	uc001evk.1	-	10	784	c.678G>C	c.(676-678)GTG>GTC	p.V226V	HORMAD1_uc001evl.1_Silent_p.V219V|HORMAD1_uc001evm.1_Silent_p.V146V	NM_032132	NP_115508	Q86X24	HORM1_HUMAN	HORMA domain containing 1	226	HORMA.				blastocyst development|cell differentiation|meiotic DNA double-strand break formation|meiotic recombination checkpoint|meiotic sister chromatid cohesion|mitosis|oogenesis|regulation of homologous chromosome segregation|spermatogenesis|synaptonemal complex assembly	chromosome|nucleus				ovary(2)|central_nervous_system(1)	3	all_cancers(9;3.23e-52)|all_epithelial(9;4.68e-43)|all_lung(15;5.74e-35)|Lung NSC(24;2.09e-31)|Breast(34;0.0009)|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;0.0241)|Epithelial(6;2.32e-23)|all cancers(9;5.21e-23)|OV - Ovarian serous cystadenocarcinoma(6;6.72e-15)|BRCA - Breast invasive adenocarcinoma(12;0.000479)|LUSC - Lung squamous cell carcinoma(543;0.171)			TCTCAGTGGTCACTTTTACTT	0.348		NaN											0	0	0	1	0	19	82				
ANXA9	8416	broad.mit.edu	37	1	150956496	150956496	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:150956496G>C	uc001ewa.2	+	5	688	c.218G>C	c.(217-219)AGA>ACA	p.R73T		NM_003568	NP_003559	O76027	ANXA9_HUMAN	annexin A9	73	Annexin 1.				cell-cell adhesion	cell surface|cytosol	acetylcholine receptor activity|calcium ion binding|calcium-dependent phospholipid binding|phosphatidylserine binding|protein homodimerization activity				0	all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			AACCGGAGCAGAGAGCAAAGG	0.587		NaN											0	0	0	1	0	4	27				
SEMA6C	10500	broad.mit.edu	37	1	151107335	151107335	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:151107335G>C	uc001ewu.2	-	16	1897	c.1597C>G	c.(1597-1599)CAG>GAG	p.Q533E	SEMA6C_uc001ewv.2_Missense_Mutation_p.Q533E|SEMA6C_uc001eww.2_Missense_Mutation_p.Q493E|SEMA6C_uc010pcq.1_Missense_Mutation_p.Q533E	NM_030913	NP_112175	Q9H3T2	SEM6C_HUMAN	semaphorin Y precursor	533	Extracellular (Potential).					integral to membrane	receptor activity			ovary(1)|skin(1)	2	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			TATGGGTCCTGAGAAGCCAAA	0.522		NaN											0	0	0	1	0	18	65				
SEMA6C	10500	broad.mit.edu	37	1	151108595	151108595	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:151108595G>A	uc001ewu.2	-	13	1451	c.1151C>T	c.(1150-1152)TCT>TTT	p.S384F	SEMA6C_uc001ewv.2_Missense_Mutation_p.S384F|SEMA6C_uc001eww.2_Missense_Mutation_p.S344F|SEMA6C_uc010pcq.1_Missense_Mutation_p.S384F	NM_030913	NP_112175	Q9H3T2	SEM6C_HUMAN	semaphorin Y precursor	384	Extracellular (Potential).|Sema.					integral to membrane	receptor activity			ovary(1)|skin(1)	2	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			GTCTCGGGAAGAGGAGAACAA	0.592		NaN											0	0	0	1	0	13	77				
SEMA6C	10500	broad.mit.edu	37	1	151108598	151108598	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:151108598G>A	uc001ewu.2	-	13	1448	c.1148C>T	c.(1147-1149)TCC>TTC	p.S383F	SEMA6C_uc001ewv.2_Missense_Mutation_p.S383F|SEMA6C_uc001eww.2_Missense_Mutation_p.S343F|SEMA6C_uc010pcq.1_Missense_Mutation_p.S383F	NM_030913	NP_112175	Q9H3T2	SEM6C_HUMAN	semaphorin Y precursor	383	Extracellular (Potential).|Sema.					integral to membrane	receptor activity			ovary(1)|skin(1)	2	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			TCGGGAAGAGGAGAACAAGGC	0.592		NaN											0	0	0	1	0	11	77				
POGZ	23126	broad.mit.edu	37	1	151378586	151378586	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:151378586C>T	uc001eyd.1	-	19	3231	c.2925G>A	c.(2923-2925)GTG>GTA	p.V975V	POGZ_uc001eye.1_Silent_p.V922V|POGZ_uc010pdb.1_Silent_p.V966V|POGZ_uc001eyf.1_Silent_p.V931V|POGZ_uc010pdc.1_Silent_p.V913V|POGZ_uc009wmv.1_Silent_p.V880V|POGZ_uc010pdd.1_Silent_p.V466V	NM_015100	NP_055915	Q7Z3K3	POGZ_HUMAN	pogo transposable element with ZNF domain	975					cell division|kinetochore assembly|mitotic sister chromatid cohesion|regulation of transcription, DNA-dependent	cytoplasm|nuclear chromatin	DNA binding|protein binding|zinc ion binding			ovary(3)	3	Lung SC(34;0.00471)|Ovarian(49;0.00672)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			GAAGCTTCTTCACAGACAGCT	0.517		NaN											0	0	0	1	0	35	112				
CGN	57530	broad.mit.edu	37	1	151492649	151492649	+	Nonsense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:151492649C>G	uc009wmw.2	+	3	1025	c.881C>G	c.(880-882)TCA>TGA	p.S294*		NM_020770	NP_065821	Q9P2M7	CING_HUMAN	cingulin	288	Interacts with ZO-2.|Head.					myosin complex|tight junction	actin binding|motor activity			ovary(2)|pancreas(1)	3	Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			CAGTTCAAATCAACTCCAGAC	0.438		NaN											0	0	0	1	0	9	41				
TCHH	7062	broad.mit.edu	37	1	152085023	152085023	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:152085023C>T	uc001ezp.2	-	2	670	c.670G>A	c.(670-672)GAG>AAG	p.E224K	TCHH_uc009wne.1_Missense_Mutation_p.E224K	NM_007113	NP_009044	Q07283	TRHY_HUMAN	trichohyalin	224					keratinization	cytoskeleton	calcium ion binding			ovary(3)|kidney(1)|central_nervous_system(1)	5	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGTTTCTCCTCGCGGCCCTTC	0.572		NaN											0	0	0	1	0	68	229				
RPTN	126638	broad.mit.edu	37	1	152128074	152128074	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:152128074G>A	uc001ezs.1	-	3	1566	c.1501C>T	c.(1501-1503)CAG>TAG	p.Q501*		NM_001122965	NP_001116437	Q6XPR3	RPTN_HUMAN	repetin	501	Gln-rich.					proteinaceous extracellular matrix	calcium ion binding				0						CCGTCTGGCTGACCATAATGA	0.507		NaN											0	0	0	1	0	204	672				
HRNR	388697	broad.mit.edu	37	1	152187713	152187713	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:152187713G>T	uc001ezt.1	-	3	6468	c.6392C>A	c.(6391-6393)TCT>TAT	p.S2131Y		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	hornerin	2131					keratinization		calcium ion binding|protein binding			skin(2)|ovary(1)	3	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCCGTAGCCAGAGGAGTGACC	0.567		NaN											1	0	1.36615e-20	1	1.45282e-20	19	531				
FLG	2312	broad.mit.edu	37	1	152283449	152283449	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:152283449C>T	uc001ezu.1	-	3	3949	c.3913G>A	c.(3913-3915)GGC>AGC	p.G1305S	uc001ezv.2_5'Flank	NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	1305	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			tgtctggagccatctcttgac	0.378		NaN							Ichthyosis				0	0	0	1	0	82	258				
FLAD1	80308	broad.mit.edu	37	1	154956263	154956263	+	Silent	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:154956263C>G	uc001fgf.1	+	1	447	c.93C>G	c.(91-93)CTC>CTG	p.L31L	FLAD1_uc001fgc.2_Intron|FLAD1_uc001fgd.1_Silent_p.L31L|FLAD1_uc001fge.1_Intron|FLAD1_uc001fgg.1_Intron	NM_025207	NP_079483	Q8NFF5	FAD1_HUMAN	flavin adenine dinucleotide synthetase isoform	31					FAD biosynthetic process|Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol	ATP binding|FMN adenylyltransferase activity			ovary(2)|skin(1)	3	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			GGGTCTTCCTCGAAGGAAGCA	0.552		NaN											0	0	0	1	0	36	101				
DCST2	127579	broad.mit.edu	37	1	155001832	155001832	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:155001832G>A	uc001fgm.2	-	8	1299	c.1219C>T	c.(1219-1221)CTG>TTG	p.L407L	DCST2_uc009wpb.2_RNA	NM_144622	NP_653223	Q5T1A1	DCST2_HUMAN	DC-STAMP domain containing 2	407	Cytoplasmic (Potential).					integral to membrane				ovary(2)|central_nervous_system(1)	3	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			AAGGTCTCCAGAATGTAAAAA	0.547		NaN											0	0	0	1	0	35	102				
ASH1L	55870	broad.mit.edu	37	1	155319120	155319120	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:155319120C>T	uc009wqq.2	-	19	8047	c.7567G>A	c.(7567-7569)GAG>AAG	p.E2523K	RAG1AP1_uc010pey.1_Intron|ASH1L_uc001fkt.2_Missense_Mutation_p.E2518K|MIR555_hsa-mir-555|MI0003561_5'Flank	NM_018489	NP_060959	Q9NR48	ASH1L_HUMAN	absent, small, or homeotic 1-like	2523	Bromo.				cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			skin(5)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	11	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			AAAAATACCTCAGCATTCCGA	0.378		NaN											0	0	0	1	0	15	44				
SEMA4A	64218	broad.mit.edu	37	1	156146338	156146338	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:156146338G>A	uc001fnl.2	+	15	1940	c.1836G>A	c.(1834-1836)CTG>CTA	p.L612L	SEMA4A_uc009wrq.2_Silent_p.L612L|SEMA4A_uc001fnm.2_Silent_p.L612L|SEMA4A_uc001fnn.2_Silent_p.L480L|SEMA4A_uc001fno.2_Silent_p.L612L	NM_022367	NP_071762	Q9H3S1	SEM4A_HUMAN	semaphorin B precursor	612	Extracellular (Potential).|Ig-like C2-type.				axon guidance	integral to membrane|plasma membrane	receptor activity			ovary(1)|skin(1)	2	Hepatocellular(266;0.158)					CCCTCTTGCTGATAGTGCAGG	0.557		NaN											0	0	0	1	0	30	76				
SEMA4A	64218	broad.mit.edu	37	1	156146608	156146608	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:156146608C>T	uc001fnl.2	+	15	2210	c.2106C>T	c.(2104-2106)CTC>CTT	p.L702L	SEMA4A_uc009wrq.2_Silent_p.L702L|SEMA4A_uc001fnm.2_Silent_p.L702L|SEMA4A_uc001fnn.2_Silent_p.L570L|SEMA4A_uc001fno.2_Silent_p.L702L	NM_022367	NP_071762	Q9H3S1	SEM4A_HUMAN	semaphorin B precursor	702	Helical; (Potential).				axon guidance	integral to membrane|plasma membrane	receptor activity			ovary(1)|skin(1)	2	Hepatocellular(266;0.158)					TCATCATCCTCGTGGCCTCCC	0.632		NaN											0	0	0	1	0	19	87				
SMG5	23381	broad.mit.edu	37	1	156247731	156247731	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:156247731G>A	uc001foc.3	-	3	431	c.282C>T	c.(280-282)ATC>ATT	p.I94I		NM_015327	NP_056142	Q9UPR3	SMG5_HUMAN	SMG5 homolog nonsense mediated mRNA decay	94					mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|nucleus	protein phosphatase 2A binding			ovary(2)|skin(2)|pancreas(1)	5	Hepatocellular(266;0.158)					TGTTAGTCTTGATAAGCTGGA	0.478		NaN											0	0	0	1	0	65	223				
C1orf182	128229	broad.mit.edu	37	1	156316677	156316677	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:156316677G>A	uc001foo.2	+	4	644	c.282G>A	c.(280-282)GTG>GTA	p.V94V	C1orf182_uc009wry.2_Silent_p.V94V|C1orf182_uc001fop.3_Silent_p.V94V	NM_144627	NP_653228	Q96A04	CA182_HUMAN	SSTK-interacting protein	94											0	Hepatocellular(266;0.158)					AGGCATCTGTGACACAACTGG	0.468		NaN											0	0	0	1	0	32	102				
APOA1BP	128240	broad.mit.edu	37	1	156562243	156562243	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:156562243C>T	uc001fph.2	+	3	417	c.378C>T	c.(376-378)GTC>GTT	p.V126V	APOA1BP_uc001fpg.2_Silent_p.V126V|APOA1BP_uc001fpi.2_Silent_p.V126V|APOA1BP_uc001fpj.2_Silent_p.V43V|APOA1BP_uc001fpk.2_Silent_p.V23V|APOA1BP_uc010php.1_Silent_p.V23V	NM_144772	NP_658985	Q8NCW5	AIBP_HUMAN	apolipoprotein A-I binding protein precursor	126	YjeF N-terminal.					extracellular region	protein binding			central_nervous_system(1)	1	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					ATGGTCTGGTCTGTGCTCGAC	0.582		NaN											0	0	0	1	0	34	122				
APOA1BP	128240	broad.mit.edu	37	1	156562250	156562250	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:156562250C>G	uc001fph.2	+	3	424	c.385C>G	c.(385-387)CGA>GGA	p.R129G	APOA1BP_uc001fpg.2_Missense_Mutation_p.R129G|APOA1BP_uc001fpi.2_Missense_Mutation_p.R129G|APOA1BP_uc001fpj.2_Missense_Mutation_p.R46G|APOA1BP_uc001fpk.2_Missense_Mutation_p.R26G|APOA1BP_uc010php.1_Missense_Mutation_p.R26G	NM_144772	NP_658985	Q8NCW5	AIBP_HUMAN	apolipoprotein A-I binding protein precursor	129	YjeF N-terminal.					extracellular region	protein binding			central_nervous_system(1)	1	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GGTCTGTGCTCGACACCTCAA	0.587		NaN											0	0	0	1	0	30	126				
FCRL1	115350	broad.mit.edu	37	1	157776905	157776905	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:157776905G>A	uc001frg.2	-	2	152	c.39C>T	c.(37-39)CTC>CTT	p.L13L	FCRL1_uc001frh.2_Silent_p.L13L|FCRL1_uc001fri.2_Silent_p.L13L|FCRL1_uc001frj.2_RNA	NM_052938	NP_443170	Q96LA6	FCRL1_HUMAN	Fc receptor-like 1 isoform 1 precursor	13						integral to membrane|plasma membrane	receptor activity			skin(4)|ovary(3)	7	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			CAGGTTCACAGAGTGGAGCTG	0.478		NaN											0	0	0	1	0	15	45				
KIRREL	55243	broad.mit.edu	37	1	158061274	158061274	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:158061274C>T	uc001frn.3	+	11	1803	c.1399C>T	c.(1399-1401)CAG>TAG	p.Q467*	KIRREL_uc010pib.1_Nonsense_Mutation_p.Q367*|KIRREL_uc009wsq.2_Nonsense_Mutation_p.Q303*|KIRREL_uc001fro.3_Nonsense_Mutation_p.Q281*	NM_018240	NP_060710	Q96J84	KIRR1_HUMAN	kin of IRRE like precursor	467	Ig-like C2-type 5.|Extracellular (Potential).					integral to membrane				ovary(1)	1	all_hematologic(112;0.0378)					GGCCGACTTTCAGACTCACTA	0.592		NaN											0	0	0	1	0	39	113				
SPTA1	6708	broad.mit.edu	37	1	158582706	158582706	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:158582706G>C	uc001fst.1	-	51	7234	c.7035C>G	c.(7033-7035)GAC>GAG	p.D2345E		NM_003126	NP_003117	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	2345	EF-hand 2.				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)					CTGACTCCTTGTCAATCAGGA	0.478		NaN											0	0	0	1	0	10	44				
NCSTN	23385	broad.mit.edu	37	1	160323984	160323984	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:160323984C>T	uc001fvx.2	+	11	1380	c.1256C>T	c.(1255-1257)TCC>TTC	p.S419F	NCSTN_uc001fvy.2_Missense_Mutation_p.S399F|NCSTN_uc010pjf.1_Missense_Mutation_p.S281F|NCSTN_uc001fvz.2_Missense_Mutation_p.S199F|NCSTN_uc010pjg.1_Missense_Mutation_p.S161F	NM_015331	NP_056146	Q92542	NICA_HUMAN	nicastrin precursor	419	Extracellular (Potential).				amyloid precursor protein catabolic process|apoptosis|induction of apoptosis by extracellular signals|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|positive regulation of catalytic activity|protein processing	endoplasmic reticulum|Golgi apparatus|integral to plasma membrane|melanosome	protein binding			ovary(1)|lung(1)	2	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CCAAATCAGTCCCAGCCTCTC	0.552		NaN											0	0	0	1	0	26	95				
PFDN2	5202	broad.mit.edu	37	1	161071873	161071873	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:161071873C>G	uc001fxu.2	-	3	303	c.253G>C	c.(253-255)GAG>CAG	p.E85Q		NM_012394	NP_036526	Q9UHV9	PFD2_HUMAN	prefoldin subunit 2	85					'de novo' posttranslational protein folding	prefoldin complex	unfolded protein binding				0	all_cancers(52;1.84e-19)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			GGCAGCACCTCTTTGACAGTT	0.403		NaN											0	0	0	1	0	19	49				
PPOX	5498	broad.mit.edu	37	1	161137269	161137269	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:161137269G>T	uc001fyj.2	+	4	621	c.331G>T	c.(331-333)GGC>TGC	p.G111C	PPOX_uc001fyn.2_Intron|PPOX_uc001fyg.2_Missense_Mutation_p.G111C|PPOX_uc001fyl.2_Missense_Mutation_p.G77C|PPOX_uc001fym.2_RNA|PPOX_uc001fyk.2_5'UTR|PPOX_uc001fyh.2_5'UTR|PPOX_uc010pkg.1_5'UTR|PPOX_uc009wuc.1_5'UTR|PPOX_uc010pkh.1_Intron|PPOX_uc001fyi.2_5'UTR	NM_001122764	NP_001116236	P50336	PPOX_HUMAN	protoporphyrinogen oxidase	111					heme biosynthetic process	intrinsic to mitochondrial inner membrane|mitochondrial intermembrane space	flavin adenine dinucleotide binding|oxygen-dependent protoporphyrinogen oxidase activity			ovary(1)	1	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			CCTACCCACTGGCCTCAGGTA	0.502		NaN							Porphyria_Variegata				1	0	0.000157383	1	0.000159646	8	44				
ATF6	22926	broad.mit.edu	37	1	161753803	161753803	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:161753803C>T	uc001gbr.2	+	4	338	c.271C>T	c.(271-273)CAG>TAG	p.Q91*	ATF6_uc001gbq.1_Nonsense_Mutation_p.Q91*	NM_007348	NP_031374	P18850	ATF6A_HUMAN	activating transcription factor 6	91	Cytoplasmic (Potential).|Transcription activation.				positive regulation of transcription from RNA polymerase II promoter involved in unfolded protein response|protein folding	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nuclear envelope|nucleoplasm	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			ovary(2)|skin(1)	3	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.00953)			GGCAGAACCTCAGCCACTTTC	0.398		NaN											0	0	0	1	0	24	110				
NOS1AP	9722	broad.mit.edu	37	1	162337072	162337072	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:162337072G>C	uc001gbv.2	+	10	1723	c.1336G>C	c.(1336-1338)GAG>CAG	p.E446Q	NOS1AP_uc010pks.1_RNA|NOS1AP_uc001gbw.2_Missense_Mutation_p.E441Q|NOS1AP_uc009wut.1_Missense_Mutation_p.E151Q	NM_014697	NP_055512	O75052	CAPON_HUMAN	nitric oxide synthase 1 (neuronal) adaptor	446					regulation of apoptosis|regulation of nitric oxide biosynthetic process|regulation of nitric-oxide synthase activity		nitric-oxide synthase binding|PDZ domain binding			lung(2)|upper_aerodigestive_tract(1)	3	all_hematologic(112;0.203)		BRCA - Breast invasive adenocarcinoma(70;0.0537)			AGCGCAGGGCGAGGCGCTCCT	0.667		NaN											0	0	0	1	0	17	56				
UHMK1	127933	broad.mit.edu	37	1	162482610	162482610	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:162482610G>A	uc001gcc.1	+	6	1157	c.1021G>A	c.(1021-1023)GAA>AAA	p.E341K	UHMK1_uc001gcb.1_Missense_Mutation_p.E267K|UHMK1_uc009wuu.1_Missense_Mutation_p.E341K	NM_175866	NP_787062	Q8TAS1	UHMK1_HUMAN	kinase interacting stathmin	341	RRM.				cell cycle arrest|neuron projection development|peptidyl-serine phosphorylation|positive regulation of translational initiation|protein autophosphorylation|regulation of protein export from nucleus	axon|dendrite cytoplasm|neuronal RNA granule|nucleus	protein binding|protein serine/threonine kinase activity|ribonucleoprotein binding|RNA binding				0	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.126)			AGAGGAATATGAAGGTTAGTG	0.328		NaN											0	0	0	1	0	35	81				
PBX1	5087	broad.mit.edu	37	1	164769035	164769035	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:164769035A>C	uc001gct.2	+	4	868	c.610A>C	c.(610-612)ATC>CTC	p.I204L	PBX1_uc010pku.1_Missense_Mutation_p.I204L|PBX1_uc010pkv.1_Missense_Mutation_p.I121L|PBX1_uc001gcs.2_Missense_Mutation_p.I204L|PBX1_uc010pkw.1_Missense_Mutation_p.I94L	NM_002585	NP_002576	P40424	PBX1_HUMAN	pre-B-cell leukemia homeobox 1	204					negative regulation of sequence-specific DNA binding transcription factor activity|sex differentiation|steroid biosynthetic process	cytoplasm|nucleus	sequence-specific DNA binding transcription factor activity|transcription factor binding		EWSR1/PBX1(3)	soft_tissue(3)|lung(1)|skin(1)	5						GGTCAGCATCATCCACCGCAA	0.587		NaN	T	TCF3|EWSR1	pre B-ALL|myoepithelioma								0	0	0	1	0	15	52				
CD247	919	broad.mit.edu	37	1	167409970	167409970	+	Silent	SNP	G	G	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:167409970G>T	uc001gei.3	-	2	238	c.93C>A	c.(91-93)CTC>CTA	p.L31L	CD247_uc001gej.3_Silent_p.L31L|CD247_uc001gek.2_Silent_p.L31L	NM_198053	NP_932170	P20963	CD3Z_HUMAN	T-cell receptor zeta chain isoform 1 precursor	31	Helical; (Potential).				interspecies interaction between organisms|regulation of defense response to virus by virus|T cell costimulation|T cell receptor signaling pathway|viral reproduction	cytoplasm|integral to membrane	protein homodimerization activity|transmembrane receptor activity				0			LUSC - Lung squamous cell carcinoma(543;0.236)			GCAGGTAGCAGAGTTTGGGAT	0.547		NaN											1	0	1	1	1	8	31				
F5	2153	broad.mit.edu	37	1	169528466	169528466	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:169528466C>G	uc001ggg.1	-	5	800	c.655G>C	c.(655-657)GAT>CAT	p.D219H	F5_uc010plr.1_RNA	NM_000130	NP_000121	P12259	FA5_HUMAN	coagulation factor V precursor	219	F5/8 type A 1.|Plastocyanin-like 2.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1)	6	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	TTGCTTTCATCAAACACAGCA	0.453		NaN											0	0	0	1	0	20	74				
C1orf9	51430	broad.mit.edu	37	1	172560143	172560143	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:172560143G>C	uc001giq.3	+	19	3161	c.2845G>C	c.(2845-2847)GAA>CAA	p.E949Q	C1orf9_uc010pmm.1_Missense_Mutation_p.E949Q|C1orf9_uc009wwd.2_Missense_Mutation_p.E905Q|C1orf9_uc010pmn.1_Missense_Mutation_p.E578Q|C1orf9_uc010pmo.1_RNA	NM_014283	NP_055098	Q9UBS9	OSPT_HUMAN	chromosome 1 open reading frame 9 protein	949	Potential.				multicellular organismal development|ossification	integral to membrane|rough endoplasmic reticulum membrane				ovary(2)	2		Breast(1374;0.212)		Colorectal(1306;3.98e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00544)		ACAAATGGAAGAAATGCAAAA	0.318		NaN											0	0	0	1	0	13	48				
ASTN1	460	broad.mit.edu	37	1	176998854	176998854	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:176998854C>A	uc001glc.2	-	5	1248	c.1036G>T	c.(1036-1038)GAA>TAA	p.E346*	ASTN1_uc001glb.1_Nonsense_Mutation_p.E346*|ASTN1_uc001gld.1_Nonsense_Mutation_p.E346*|ASTN1_uc009wwx.1_Nonsense_Mutation_p.E346*|ASTN1_uc001gle.3_RNA|MIR488_hsa-mir-488|MI0003123_5'Flank	NM_004319	NP_004310	O14525	ASTN1_HUMAN	astrotactin isoform 1	346					cell migration|neuron cell-cell adhesion	integral to membrane				ovary(6)|skin(5)|central_nervous_system(2)|large_intestine(1)|lung(1)	15						GAATCCCCTTCAGGGTTCAAG	0.493		NaN											1	0	0.00829132	1	0.00836045	11	19				
NPHS2	7827	broad.mit.edu	37	1	179526245	179526245	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:179526245G>A	uc001gmq.3	-	5	740	c.655C>T	c.(655-657)CAA>TAA	p.Q219*	NPHS2_uc009wxi.2_Intron	NM_014625	NP_055440	Q9NP85	PODO_HUMAN	podocin	219	Cytoplasmic (Potential).				excretion	integral to plasma membrane	protein binding				0						ATAGTGGTTTGCACAAGGAAT	0.423		NaN											0	0	0	1	0	8	41				
NPHS2	7827	broad.mit.edu	37	1	179526363	179526363	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:179526363G>A	uc001gmq.3	-	5	622	c.537C>T	c.(535-537)ATC>ATT	p.I179I	NPHS2_uc009wxi.2_Intron	NM_014625	NP_055440	Q9NP85	PODO_HUMAN	podocin	179	Cytoplasmic (Potential).				excretion	integral to plasma membrane	protein binding				0						CTTTGGTCACGATCTAGGCAG	0.413		NaN											0	0	0	1	0	12	39				
C1orf26	54823	broad.mit.edu	37	1	185143554	185143554	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:185143554C>T	uc001grg.3	+	5	389	c.275C>T	c.(274-276)TCA>TTA	p.S92L	C1orf26_uc001grh.3_Missense_Mutation_p.S92L	NM_001105518	NP_001098988	Q5T5J6	SWT1_HUMAN	hypothetical protein LOC54823	92											0						ATCGGTTCTTCATCCCAAAGA	0.313		NaN											0	0	0	1	0	3	17				
TPR	7175	broad.mit.edu	37	1	186320521	186320521	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:186320521G>C	uc001grv.2	-	20	2848	c.2551C>G	c.(2551-2553)CTA>GTA	p.L851V		NM_003292	NP_003283	P12270	TPR_HUMAN	nuclear pore complex-associated protein TPR	851	Potential.				carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity			ovary(2)|lung(2)|urinary_tract(1)|central_nervous_system(1)|skin(1)	7		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		TTCTTCTTTAGATGAGAGATC	0.378		NaN	T	NTRK1	papillary thyroid								0	0	0	1	0	13	48				
ZNF281	23528	broad.mit.edu	37	1	200377314	200377314	+	Nonsense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:200377314G>C	uc001gve.2	-	2	1627	c.1520C>G	c.(1519-1521)TCA>TGA	p.S507*	ZNF281_uc001gvf.1_Nonsense_Mutation_p.S507*|ZNF281_uc001gvg.1_Nonsense_Mutation_p.S471*	NM_012482	NP_036614	Q9Y2X9	ZN281_HUMAN	zinc finger protein 281	507					negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			ovary(1)|breast(1)	2						ACTATTATTTGATACTATGCC	0.373		NaN											0	0	0	1	0	26	44				
C1orf106	55765	broad.mit.edu	37	1	200880791	200880791	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:200880791C>T	uc001gvo.2	+	9	1455	c.1425C>T	c.(1423-1425)CCC>CCT	p.P475P	C1orf106_uc010ppm.1_Silent_p.P390P	NM_018265	NP_060735	Q3KP66	CA106_HUMAN	hypothetical protein LOC55765 isoform 1	475										skin(2)|ovary(1)	3						GCAGCAGCCCCGACATCTCCT	0.692		NaN											0	0	0	1	0	76	180				
CACNA1S	779	broad.mit.edu	37	1	201017798	201017798	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:201017798C>T	uc001gvv.2	-	36	4580	c.4353G>A	c.(4351-4353)ATG>ATA	p.M1451I		NM_000069	NP_000060	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type,	1451	Cytoplasmic (Potential).				axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			ovary(3)|central_nervous_system(1)|skin(1)	5					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	GGGGCATGTTCATGCCCACCA	0.617		NaN											0	0	0	1	0	10	34				
CACNA1S	779	broad.mit.edu	37	1	201019552	201019552	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:201019552G>C	uc001gvv.2	-	34	4433	c.4206C>G	c.(4204-4206)TTC>TTG	p.F1402L		NM_000069	NP_000060	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type,	1402	Dihydropyridine binding (By similarity).|Cytoplasmic (Potential).				axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			ovary(3)|central_nervous_system(1)|skin(1)	5					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	AGATGGCCTTGAACTCATCCA	0.547		NaN											0	0	0	1	0	25	52				
CACNA1S	779	broad.mit.edu	37	1	201079390	201079390	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:201079390C>G	uc001gvv.2	-	2	387	c.160G>C	c.(160-162)GAG>CAG	p.E54Q		NM_000069	NP_000060	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type,	54	I.|Helical; Name=S1 of repeat I; (Potential).				axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			ovary(3)|central_nervous_system(1)|skin(1)	5					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	ATGATCGTCTCGAAGGGCCTG	0.577		NaN											0	0	0	1	0	26	70				
GPR37L1	9283	broad.mit.edu	37	1	202092471	202092471	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:202092471C>G	uc001gxj.2	+	1	443	c.380C>G	c.(379-381)TCC>TGC	p.S127C		NM_004767	NP_004758	O60883	ETBR2_HUMAN	G-protein coupled receptor 37 like 1 precursor	127	Extracellular (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding			ovary(1)|central_nervous_system(1)	2						ACCGAGAGCTCCTACAGTGCC	0.597		NaN											0	0	0	1	0	22	67				
BTG2	7832	broad.mit.edu	37	1	203274737	203274737	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:203274737G>A	uc001gzq.2	+	1	74	c.3G>A	c.(1-3)ATG>ATA	p.M1I	FMOD_uc010pqi.1_Intron|uc009xao.1_5'Flank|uc001gzp.1_5'Flank|BTG2_uc009xap.1_RNA	NM_006763	NP_006754	P78543	BTG2_HUMAN	B-cell translocation gene 2	1					DNA repair|neuron projection development|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding	p.M1I(1)		ovary(1)|kidney(1)|skin(1)	3			BRCA - Breast invasive adenocarcinoma(75;0.203)			CGCGCGACATGAGCCACGGGA	0.697		NaN											0	0	0	1	0	3	10		Valid		
ATP2B4	493	broad.mit.edu	37	1	203667470	203667470	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:203667470G>A	uc001gzw.2	+	3	1263	c.379G>A	c.(379-381)GAA>AAA	p.E127K	ATP2B4_uc001gzv.2_Missense_Mutation_p.E127K|ATP2B4_uc009xaq.2_Missense_Mutation_p.E127K	NM_001684	NP_001675	P23634	AT2B4_HUMAN	plasma membrane calcium ATPase 4 isoform 4b	127	Extracellular (Potential).				ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding			ovary(2)|skin(1)	3	all_cancers(21;0.071)|all_epithelial(62;0.228)		BRCA - Breast invasive adenocarcinoma(75;0.109)			CCCTGCTGGTGAAGAAAATGA	0.488		NaN											0	0	0	1	0	27	76				
NUAK2	81788	broad.mit.edu	37	1	205280856	205280856	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:205280856G>A	uc001hce.2	-	2	456	c.329C>T	c.(328-330)CCT>CTT	p.P110L	NUAK2_uc009xbj.1_5'Flank	NM_030952	NP_112214	Q9H093	NUAK2_HUMAN	NUAK family, SNF1-like kinase, 2	110	Protein kinase.				actin cytoskeleton organization|apoptosis|cellular response to glucose starvation|negative regulation of apoptosis		ATP binding|magnesium ion binding|protein serine/threonine kinase activity			ovary(3)|stomach(1)|breast(1)	5	Breast(84;0.186)		BRCA - Breast invasive adenocarcinoma(75;0.117)			AATGATGTGAGGGTGGTTGAG	0.473		NaN											0	0	0	1	0	12	49				
MAPKAPK2	9261	broad.mit.edu	37	1	206904055	206904055	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:206904055G>A	uc001hem.1	+	6	1000	c.714G>A	c.(712-714)GAG>GAA	p.E238E	MAPKAPK2_uc001hel.1_Silent_p.E238E	NM_032960	NP_116584	P49137	MAPK2_HUMAN	mitogen-activated protein kinase-activated	238	Protein kinase.				activation of MAPK activity|hormone biosynthetic process|innate immune response|leukotriene biosynthetic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|prostanoid metabolic process|Ras protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|signal transducer activity				0	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.211)			TGGGTCCAGAGAAGTATGACA	0.572		NaN											0	0	0	1	0	30	80				
IL10	3586	broad.mit.edu	37	1	206944333	206944333	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:206944333C>T	uc001hen.1	-	3	356	c.297G>A	c.(295-297)GAG>GAA	p.E99E		NM_000572	NP_000563	P22301	IL10_HUMAN	interleukin 10 precursor	99					anti-apoptosis|B cell differentiation|B cell proliferation|cytoplasmic sequestering of NF-kappaB|inflammatory response|leukocyte chemotaxis|negative regulation of B cell proliferation|negative regulation of cytokine secretion involved in immune response|negative regulation of interferon-alpha biosynthetic process|negative regulation of interleukin-6 production|negative regulation of membrane protein ectodomain proteolysis|negative regulation of MHC class II biosynthetic process|negative regulation of T cell proliferation|positive regulation of B cell apoptosis|positive regulation of cytokine secretion|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|receptor biosynthetic process|regulation of isotype switching|response to glucocorticoid stimulus|type 2 immune response	extracellular space	cytokine activity|growth factor activity|interleukin-10 receptor binding				0	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.211)			GGTCTTGGTTCTCAGCTTGGG	0.547		NaN											0	0	0	1	0	39	110				
CR2	1380	broad.mit.edu	37	1	207651346	207651346	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:207651346G>T	uc001hfw.2	+	15	2936	c.2842G>T	c.(2842-2844)GAA>TAA	p.E948*	CR2_uc001hfv.2_Nonsense_Mutation_p.E1007*|CR2_uc009xch.2_Nonsense_Mutation_p.E886*	NM_001877	NP_001868	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus)	948	Sushi 15.|Extracellular (Potential).				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity			upper_aerodigestive_tract(3)|skin(3)|urinary_tract(1)|ovary(1)	8						GTATATGCTGGAAGGCAGTCC	0.522		NaN											1	0	9.70103e-10	1	1.01257e-09	11	39				
CR2	1380	broad.mit.edu	37	1	207651410	207651410	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:207651410G>T	uc001hfw.2	+	15	3000	c.2906G>T	c.(2905-2907)AGA>ATA	p.R969I	CR2_uc001hfv.2_Missense_Mutation_p.R1028I|CR2_uc009xch.2_Missense_Mutation_p.R907I	NM_001877	NP_001868	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus)	969	Sushi 15.|Extracellular (Potential).				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity			upper_aerodigestive_tract(3)|skin(3)|urinary_tract(1)|ovary(1)	8						GCGGTTTGCAGATCCCGTAAG	0.532		NaN											1	0	0.000157383	1	0.000159646	5	31				
CD34	947	broad.mit.edu	37	1	208062850	208062850	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:208062850C>T	uc001hgw.1	-	5	972	c.714G>A	c.(712-714)GTG>GTA	p.V238V	CD34_uc001hgv.1_Silent_p.V80V|CD34_uc001hgx.1_Silent_p.V238V|CD34_uc010psj.1_Silent_p.V103V	NM_001025109	NP_001020280	P28906	CD34_HUMAN	CD34 antigen isoform a	238	Extracellular (Potential).				cell-cell adhesion|leukocyte migration|regulation of immune response	integral to membrane	carbohydrate binding			ovary(1)	1						ACTGAGGCCTCACCTCAGACT	0.612		NaN											0	0	0	1	0	11	37				
LAMB3	3914	broad.mit.edu	37	1	209805953	209805953	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:209805953G>A	uc001hhg.2	-	7	1187	c.797C>T	c.(796-798)TCT>TTT	p.S266F	LAMB3_uc009xco.2_Missense_Mutation_p.S266F|LAMB3_uc001hhh.2_Missense_Mutation_p.S266F|LAMB3_uc010psl.1_RNA|LAMB3_uc009xcp.1_Missense_Mutation_p.S202F	NM_001017402	NP_001017402	Q13751	LAMB3_HUMAN	laminin, beta 3 precursor	266	Laminin EGF-like 1.				cell adhesion|epidermis development|hemidesmosome assembly		structural molecule activity			central_nervous_system(2)|skin(2)|large_intestine(1)|ovary(1)	6				OV - Ovarian serous cystadenocarcinoma(81;0.0519)		GGGGCCTGCAGAGGCCCCAGG	0.652		NaN											0	0	0	1	0	24	53				
SYT14	255928	broad.mit.edu	37	1	210273593	210273593	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:210273593G>C	uc009xcv.2	+	6	1023	c.951G>C	c.(949-951)CAG>CAC	p.Q317H	SYT14_uc001hhs.3_Missense_Mutation_p.Q362H|SYT14_uc001hht.3_Missense_Mutation_p.Q317H|SYT14_uc001hhu.3_Intron|SYT14_uc010psn.1_Missense_Mutation_p.Q362H|SYT14_uc010pso.1_Missense_Mutation_p.Q279H	NM_153262	NP_694994	Q8NB59	SYT14_HUMAN	synaptotagmin XIV isoform 4	317	Cytoplasmic (Potential).|C2 1.					integral to membrane				ovary(1)|skin(1)	2				OV - Ovarian serous cystadenocarcinoma(81;0.085)		CCAGCATCCAGAGAGGACCAT	0.403		NaN											0	0	0	1	0	14	38				
INTS7	25896	broad.mit.edu	37	1	212180677	212180677	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:212180677G>C	uc001hiw.1	-	6	776	c.671C>G	c.(670-672)TCC>TGC	p.S224C	INTS7_uc009xdb.1_Missense_Mutation_p.S224C|INTS7_uc001hix.1_Missense_Mutation_p.S100C|INTS7_uc001hiy.1_Missense_Mutation_p.S224C|INTS7_uc010pta.1_Missense_Mutation_p.S175C	NM_015434	NP_056249	Q9NVH2	INT7_HUMAN	integrator complex subunit 7	224					snRNA processing	integrator complex	protein binding				0				OV - Ovarian serous cystadenocarcinoma(81;0.00584)|all cancers(67;0.0318)|Epithelial(68;0.0852)		GGACGGATAGGATGTGACCAG	0.433		NaN											0	0	0	1	0	14	45				
DTL	51514	broad.mit.edu	37	1	212274365	212274365	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:212274365G>A	uc009xdc.2	+	14	2347	c.2033G>A	c.(2032-2034)CGA>CAA	p.R678Q	DTL_uc010ptb.1_Missense_Mutation_p.R636Q|DTL_uc001hiz.3_Missense_Mutation_p.R407Q	NM_016448	NP_057532	Q9NZJ0	DTL_HUMAN	denticleless homolog	678					DNA replication|G2/M transition DNA damage checkpoint|protein monoubiquitination|protein polyubiquitination|response to UV|translesion synthesis|ubiquitin-dependent protein catabolic process	centrosome|Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|nuclear membrane	protein binding				0				OV - Ovarian serous cystadenocarcinoma(81;0.00796)|all cancers(67;0.0385)|Epithelial(68;0.102)		CCATCTCCACGAAGTCCGTCA	0.488		NaN											0	0	0	1	0	13	53				
RPS6KC1	26750	broad.mit.edu	37	1	213414278	213414278	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:213414278G>A	uc010ptr.1	+	11	1618	c.1459G>A	c.(1459-1461)GAA>AAA	p.E487K	RPS6KC1_uc001hkd.2_Missense_Mutation_p.E475K|RPS6KC1_uc010pts.1_Missense_Mutation_p.E275K|RPS6KC1_uc010ptt.1_Missense_Mutation_p.E275K|RPS6KC1_uc010ptu.1_Missense_Mutation_p.E306K|RPS6KC1_uc010ptv.1_Missense_Mutation_p.E22K|RPS6KC1_uc001hke.2_Missense_Mutation_p.E306K	NM_012424	NP_036556	Q96S38	KS6C1_HUMAN	ribosomal protein S6 kinase, 52kDa, polypeptide	487					cell communication|signal transduction	early endosome|membrane	ATP binding|phosphatidylinositol binding|protein binding|protein serine/threonine kinase activity			lung(4)|ovary(3)|breast(1)	8				OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145)		CAGCAACCAGGAAGATGATGG	0.413		NaN											0	0	0	1	0	20	71				
GPATCH2	55105	broad.mit.edu	37	1	217784238	217784238	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:217784238G>A	uc001hlf.1	-	4	1107	c.1011C>T	c.(1009-1011)AGC>AGT	p.S337S	GPATCH2_uc001hlg.3_Silent_p.S337S	NM_018040	NP_060510	Q9NW75	GPTC2_HUMAN	G patch domain containing 2	337						intracellular	nucleic acid binding			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(81;0.0397)|all cancers(67;0.0744)|GBM - Glioblastoma multiforme(131;0.0872)		GACCTCTTCTGCTTGGGTGTG	0.413		NaN											0	0	0	1	0	14	41				
SLC30A10	55532	broad.mit.edu	37	1	220101335	220101335	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:220101335G>A	uc001hlw.2	-	1	659	c.448C>T	c.(448-450)CGC>TGC	p.R150C	SLC30A10_uc001hlu.1_Intron|SLC30A10_uc001hlx.2_5'UTR	NM_018713	NP_061183	Q6XR72	ZNT10_HUMAN	solute carrier family 30 (zinc transporter),	150	Cytoplasmic (Potential).				zinc ion transport	integral to membrane|plasma membrane	cation transmembrane transporter activity				0				GBM - Glioblastoma multiforme(131;0.051)|all cancers(67;0.209)		TGCAGGCGGCGACTGCGTCCC	0.746		NaN											0	0	0	1	0	4	5				
MARK1	4139	broad.mit.edu	37	1	220752866	220752866	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:220752866C>T	uc001hmn.3	+	2	819	c.222C>T	c.(220-222)GTC>GTT	p.V74V	MARK1_uc001hml.2_Silent_p.V74V|MARK1_uc009xdw.2_Silent_p.V74V|MARK1_uc010pun.1_Silent_p.V74V|MARK1_uc001hmm.3_Silent_p.V74V	NM_018650	NP_061120	Q9P0L2	MARK1_HUMAN	MAP/microtubule affinity-regulating kinase 1	74	ATP (By similarity).|Protein kinase.				intracellular protein kinase cascade	cytoplasm|microtubule cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			ovary(4)|central_nervous_system(2)|skin(2)|stomach(1)|lung(1)	10				GBM - Glioblastoma multiforme(131;0.0407)		TTGCCAAAGTCAAATTGGCAA	0.413		NaN											0	0	0	1	0	9	58				
DISP1	84976	broad.mit.edu	37	1	223163986	223163986	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:223163986G>A	uc001hnu.1	+	4	706	c.559G>A	c.(559-561)GAC>AAC	p.D187N		NM_032890	NP_116279	Q96F81	DISP1_HUMAN	dispatched A	187					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)		CCTGATAGCCGACTGGCCGGT	0.498		NaN											0	0	0	1	0	40	110				
SUSD4	55061	broad.mit.edu	37	1	223536710	223536710	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:223536710G>A	uc001hnx.2	-	1	692	c.58C>T	c.(58-60)CAG>TAG	p.Q20*	SUSD4_uc001hny.3_Nonsense_Mutation_p.Q20*|SUSD4_uc010puw.1_5'UTR|SUSD4_uc001hnz.2_Nonsense_Mutation_p.Q20*|SUSD4_uc010pux.1_Nonsense_Mutation_p.Q20*	NM_017982	NP_060452	Q5VX71	SUSD4_HUMAN	sushi domain containing 4 isoform a	20						integral to membrane					0				GBM - Glioblastoma multiforme(131;0.0611)		GGTtgctgctgctgctgctgc	0.502		NaN											0	0	0	1	0	4	17				
FBXO28	23219	broad.mit.edu	37	1	224345239	224345239	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:224345239G>C	uc001hoh.2	+	5	939	c.898G>C	c.(898-900)GAC>CAC	p.D300H	FBXO28_uc009xef.2_3'UTR|FBXO28_uc010pvc.1_Missense_Mutation_p.D95H	NM_015176	NP_055991	Q9NVF7	FBX28_HUMAN	F-box protein 28 isoform a	300										ovary(2)|kidney(2)|lung(1)	5	Breast(184;0.206)			GBM - Glioblastoma multiforme(131;0.0363)		TCAAGACCAGGACCAGAAACT	0.473		NaN											0	0	0	1	0	32	158				
FBXO28	23219	broad.mit.edu	37	1	224345339	224345339	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:224345339G>C	uc001hoh.2	+	5	1039	c.998G>C	c.(997-999)GGA>GCA	p.G333A	FBXO28_uc009xef.2_3'UTR|FBXO28_uc010pvc.1_Missense_Mutation_p.G128A	NM_015176	NP_055991	Q9NVF7	FBX28_HUMAN	F-box protein 28 isoform a	333										ovary(2)|kidney(2)|lung(1)	5	Breast(184;0.206)			GBM - Glioblastoma multiforme(131;0.0363)		AGTGCTGTAGGAAATTCCTCA	0.478		NaN											0	0	0	1	0	28	113				
CDC42BPA	8476	broad.mit.edu	37	1	227204633	227204633	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:227204633C>G	uc001hqr.2	-	32	5572	c.4629G>C	c.(4627-4629)CAG>CAC	p.Q1543H	CDC42BPA_uc001hqq.2_Missense_Mutation_p.Q842H|CDC42BPA_uc001hqs.2_Missense_Mutation_p.Q1462H|CDC42BPA_uc009xes.2_Missense_Mutation_p.Q1515H|CDC42BPA_uc010pvs.1_Missense_Mutation_p.Q1523H|CDC42BPA_uc001hqp.2_Missense_Mutation_p.Q699H|CDC42BPA_uc001hqt.2_Missense_Mutation_p.Q421H	NM_003607	NP_003598	Q5VT25	MRCKA_HUMAN	CDC42-binding protein kinase alpha isoform B	1556					actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm	ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			lung(6)|breast(2)|stomach(1)|ovary(1)|pancreas(1)	11		all_cancers(173;0.156)|Prostate(94;0.0792)				TCTACCTCCTCTGCTGCATCC	0.398		NaN											0	0	0	1	0	15	48				
OBSCN	84033	broad.mit.edu	37	1	228475825	228475825	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:228475825C>T	uc009xez.1	+	37	9919	c.9875C>T	c.(9874-9876)ACG>ATG	p.T3292M	OBSCN_uc001hsn.2_Missense_Mutation_p.T3292M|OBSCN_uc001hsq.1_Missense_Mutation_p.T548M	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and	3292	Ig-like 33.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28		Prostate(94;0.0405)				GCCACGGCCACGCTGCGGTGT	0.612		NaN											0	0	0	1	0	51	112				
ACTA1	58	broad.mit.edu	37	1	229567842	229567842	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:229567842G>T	uc001htm.2	-	5	812	c.707C>A	c.(706-708)TCC>TAC	p.S236Y		NM_001100	NP_001091	P68133	ACTS_HUMAN	actin, alpha 1, skeletal muscle	236					muscle filament sliding|skeletal muscle fiber development|skeletal muscle thin filament assembly	actin filament|cytosol|stress fiber|striated muscle thin filament	ADP binding|ATP binding|myosin binding|structural constituent of cytoskeleton				0	Breast(184;0.0858)|Ovarian(103;0.103)	Prostate(94;0.167)			Dornase Alfa(DB00003)	TTCCAGGGAGGAGGAGGAGGC	0.642		NaN											1	0	1.3612e-06	1	1.40263e-06	14	42				
URB2	9816	broad.mit.edu	37	1	229779297	229779297	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:229779297C>T	uc001hts.1	+	5	3788	c.3652C>T	c.(3652-3654)CAG>TAG	p.Q1218*	URB2_uc009xfd.1_Nonsense_Mutation_p.Q1218*	NM_014777	NP_055592	Q14146	URB2_HUMAN	URB2 ribosome biogenesis 2 homolog	1218						nucleolus				central_nervous_system(2)|ovary(1)	3						AATTCCTGTTCAGGTCACTCA	0.448		NaN											0	0	0	1	0	19	72				
GALNT2	2590	broad.mit.edu	37	1	230314024	230314024	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:230314024G>C	uc010pwa.1	+	2	259	c.187G>C	c.(187-189)GAG>CAG	p.E63Q	GALNT2_uc010pvy.1_Missense_Mutation_p.E25Q|GALNT2_uc010pvz.1_Intron	NM_004481	NP_004472	Q10471	GALT2_HUMAN	polypeptide N-acetylgalactosaminyltransferase 2	63	Lumenal (Potential).				immunoglobulin biosynthetic process|protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	extracellular region|Golgi cisterna membrane|integral to Golgi membrane|perinuclear region of cytoplasm	manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			ovary(2)	2	Breast(184;0.193)|Ovarian(103;0.249)	all_cancers(173;0.156)|Prostate(94;0.179)				CAATGGAGAAGAGAAAGCACA	0.493		NaN											0	0	0	1	0	9	53				
PCNXL2	80003	broad.mit.edu	37	1	233344284	233344284	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:233344284G>A	uc001hvl.2	-	13	3078	c.2843C>T	c.(2842-2844)TCA>TTA	p.S948L	PCNXL2_uc009xfu.2_RNA|PCNXL2_uc001hvp.1_RNA|PCNXL2_uc009xfv.1_RNA|PCNXL2_uc001hvq.1_Missense_Mutation_p.S247L	NM_014801	NP_055616	A6NKB5	PCX2_HUMAN	pecanex-like 2	948						integral to membrane				central_nervous_system(1)|pancreas(1)	2		all_cancers(173;0.0347)|Prostate(94;0.137)				GTCCCTAGCTGATTGTAGAAA	0.468		NaN											0	0	0	1	0	15	41				
TOMM20	9804	broad.mit.edu	37	1	235277211	235277211	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:235277211C>T	uc001hwl.2	-	4	491	c.265G>A	c.(265-267)GGC>AGC	p.G89S	TOMM20_uc009xfx.1_Intron	NM_014765	NP_055580	Q15388	TOM20_HUMAN	translocase of outer mitochondrial membrane 20	89	Cytoplasmic (Potential).				protein targeting to mitochondrion	integral to membrane|mitochondrial outer membrane translocase complex	P-P-bond-hydrolysis-driven protein transmembrane transporter activity|unfolded protein binding				0	Ovarian(103;0.0398)	all_cancers(173;0.177)|Prostate(94;0.0166)	OV - Ovarian serous cystadenocarcinoma(106;6.33e-05)|Epithelial(3;8.26e-05)			TGGTCTACGCCCTTCTCATAT	0.418		NaN											0	0	0	1	0	24	55				
RYR2	6262	broad.mit.edu	37	1	237619914	237619914	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:237619914C>T	uc001hyl.1	+	16	1611	c.1491C>T	c.(1489-1491)CTC>CTT	p.L497L		NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	497	Cytoplasmic (By similarity).				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TGATCAACCTCGTGCTTGAGT	0.413		NaN											0	0	0	1	0	12	57				
RYR2	6262	broad.mit.edu	37	1	237872347	237872347	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:237872347G>A	uc001hyl.1	+	69	10211	c.10091G>A	c.(10090-10092)AGA>AAA	p.R3364K	RYR2_uc010pxz.1_Missense_Mutation_p.R319K	NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	3364					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			ACACTGGCCAGAGATCTCTAT	0.463		NaN											0	0	0	1	0	10	22				
SDCCAG8	10806	broad.mit.edu	37	1	243433447	243433447	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:243433447G>A	uc001hzw.2	+	2	264	c.108G>A	c.(106-108)CTG>CTA	p.L36L	SDCCAG8_uc010pyk.1_Intron|SDCCAG8_uc010pyl.1_Intron	NM_006642	NP_006633	Q86SQ7	SDCG8_HUMAN	serologically defined colon cancer antigen 8	36					establishment of cell polarity|G2/M transition of mitotic cell cycle|tube formation	cell-cell junction|centriole|cytosol	protein binding				0	all_cancers(71;0.000545)|all_epithelial(71;0.000509)|all_lung(81;0.0821)|Ovarian(71;0.0919)|all_neural(11;0.101)|Breast(184;0.218)	all_cancers(173;0.00395)	all cancers(7;1.58e-07)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00392)	COAD - Colon adenocarcinoma(196;0.145)		CATGTGCCCTGAAAGAAGGCG	0.493		NaN											0	0	0	1	0	8	35				
AKT3	10000	broad.mit.edu	37	1	243727132	243727132	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:243727132C>G	uc001iab.1	-	9	919	c.838G>C	c.(838-840)GAC>CAC	p.D280H	AKT3_uc001hzz.1_Missense_Mutation_p.D280H	NM_005465	NP_005456	Q9Y243	AKT3_HUMAN	AKT3 kinase isoform 1	280	Protein kinase.				signal transduction	Golgi apparatus|nucleus|plasma membrane	ATP binding|protein binding|protein serine/threonine kinase activity			stomach(1)|lung(1)|breast(1)|central_nervous_system(1)	4	all_cancers(71;0.000307)|all_epithelial(71;0.000374)|all_lung(81;0.0323)|Ovarian(71;0.0619)|all_neural(11;0.101)|Lung NSC(105;0.168)	all_cancers(173;0.0274)	all cancers(7;4.3e-08)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00196)			CCATCTTTGTCCAGCATTAGA	0.348		NaN											0	0	0	1	0	16	51				
KIF26B	55083	broad.mit.edu	37	1	245765916	245765916	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:245765916G>C	uc001ibf.1	+	6	1828	c.1388G>C	c.(1387-1389)CGA>CCA	p.R463P	KIF26B_uc010pyq.1_Missense_Mutation_p.R463P|KIF26B_uc001ibg.1_Missense_Mutation_p.R81P	NM_018012	NP_060482	Q2KJY2	KI26B_HUMAN	kinesin family member 26B	463	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(3)	3	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			ACCTTGGCTCGAGATACTTCA	0.488		NaN											0	0	0	1	0	10	25				
OR2T8	343172	broad.mit.edu	37	1	248085113	248085113	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:248085113C>G	uc010pzc.1	+	1	794	c.794C>G	c.(793-795)TCC>TGC	p.S265C		NM_001005522	NP_001005522	A6NH00	OR2T8_HUMAN	olfactory receptor, family 2, subfamily T,	265	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0211)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			TCCCACAGGTCCACTAACCAC	0.493		NaN											0	0	0	1	0	22	64				
SH3BP5L	80851	broad.mit.edu	37	1	249106497	249106497	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:249106497G>A	uc001iew.1	-	7	1336	c.784C>T	c.(784-786)CGT>TGT	p.R262C	SH3BP5L_uc010pzp.1_Missense_Mutation_p.R155C|SH3BP5L_uc010pzq.1_Missense_Mutation_p.R230C|SH3BP5L_uc001iev.1_Missense_Mutation_p.R143C	NM_030645	NP_085148	Q7L8J4	3BP5L_HUMAN	SH3-binding domain protein 5-like	262	Potential.										0	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	OV - Ovarian serous cystadenocarcinoma(106;0.00805)			TCCAGGTTACGAAGGGCCACG	0.682		NaN											0	0	0	1	0	15	55				
LARP4B	23185	broad.mit.edu	37	10	860896	860896	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr10:860896G>A	uc001ifs.1	-	15	1851	c.1810C>T	c.(1810-1812)CAT>TAT	p.H604Y		NM_015155	NP_055970	Q92615	LAR4B_HUMAN	La ribonucleoprotein domain family, member 4B	604							nucleotide binding|RNA binding			ovary(2)|central_nervous_system(1)	3						TCGGGTAAATGAGCTGGGGAG	0.532		NaN											0	0	0	1	0	20	66				
PITRM1	10531	broad.mit.edu	37	10	3206032	3206032	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr10:3206032G>A	uc010qah.1	-	6	612	c.580C>T	c.(580-582)CTT>TTT	p.L194F	PITRM1_uc001igr.1_Missense_Mutation_p.L226F|PITRM1_uc001igt.1_Missense_Mutation_p.L226F|PITRM1_uc001igu.1_Missense_Mutation_p.L218F|PITRM1_uc010qai.1_Missense_Mutation_p.L197F|PITRM1_uc001igw.1_Missense_Mutation_p.L226F|uc001igx.1_5'Flank			E7ES23	E7ES23_HUMAN	SubName: Full=cDNA FLJ54065, moderately similar to Mus musculus pitrilysin metallepetidase 1 (Pitrm1), mRNA;	194					proteolysis		metalloendopeptidase activity|zinc ion binding			pancreas(1)	1						TGGTCAGGAAGAAGTCTGTTC	0.438		NaN											0	0	0	1	0	25	70				
NET1	10276	broad.mit.edu	37	10	5498204	5498204	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr10:5498204C>G	uc001iia.2	+	11	1490	c.1352C>G	c.(1351-1353)TCC>TGC	p.S451C	NET1_uc010qar.1_Missense_Mutation_p.S270C|NET1_uc001iib.2_Missense_Mutation_p.S397C|NET1_uc010qas.1_Missense_Mutation_p.S270C	NM_001047160	NP_001040625	Q7Z628	ARHG8_HUMAN	neuroepithelial cell transforming gene 1 isoform	451	PH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of cell growth|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|nucleus	Rho guanyl-nucleotide exchange factor activity			breast(1)	1						ATGGGAGGCTCCTTTCGAGGA	0.458		NaN											0	0	0	1	0	13	47				
C10orf18	54906	broad.mit.edu	37	10	5772507	5772507	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr10:5772507C>G	uc001iij.2	+	11	1170	c.545C>G	c.(544-546)TCT>TGT	p.S182C	C10orf18_uc001iik.2_5'Flank	NM_017782	NP_060252	Q5VWN6	CJ018_HUMAN	hypothetical protein LOC54906	182										ovary(1)|central_nervous_system(1)	2						CCTATTTTATCTACCCTTAAT	0.333		NaN											0	0	0	1	0	15	43				
UPF2	26019	broad.mit.edu	37	10	12043687	12043687	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr10:12043687G>C	uc001ila.2	-	5	2116	c.1642C>G	c.(1642-1644)CTT>GTT	p.L548V	UPF2_uc001ilb.2_Missense_Mutation_p.L548V|UPF2_uc001ilc.2_Missense_Mutation_p.L548V|UPF2_uc009xiz.1_Missense_Mutation_p.L548V	NM_080599	NP_542166	Q9HAU5	RENT2_HUMAN	UPF2 regulator of nonsense transcripts homolog	548	Potential.				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	exon-exon junction complex|perinuclear region of cytoplasm	identical protein binding|RNA binding			central_nervous_system(2)|ovary(1)	3		Renal(717;0.228)				TGTTCATCAAGAAGTTTCTTT	0.333		NaN											0	0	0	1	0	3	26				
BEND7	222389	broad.mit.edu	37	10	13494604	13494604	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr10:13494604C>G	uc001imm.2	-	7	1259	c.962G>C	c.(961-963)AGA>ACA	p.R321T	BEND7_uc001iml.2_RNA|BEND7_uc001imn.2_Missense_Mutation_p.R82T|BEND7_uc001imo.3_Missense_Mutation_p.R334T	NM_152751	NP_689964	Q8N7W2	BEND7_HUMAN	BEN domain containing 7 isoform 1	373	BEN.						protein binding			ovary(1)|breast(1)	2						TACCCAATCTCTTGGGCCAGG	0.363		NaN											0	0	0	1	0	21	70				
VIM	7431	broad.mit.edu	37	10	17271570	17271570	+	Missense_Mutation	SNP	G	G	A	rs11545553		TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr10:17271570G>A	uc001iou.2	+	2	562	c.149G>A	c.(148-150)CGC>CAC	p.R50H	uc001iot.1_RNA|VIM_uc001iov.1_Missense_Mutation_p.R50H|VIM_uc001iow.1_RNA|VIM_uc001iox.1_Missense_Mutation_p.R50H|VIM_uc001ioy.1_Missense_Mutation_p.R50H|VIM_uc001ioz.1_RNA|VIM_uc001ipb.1_RNA|VIM_uc009xjv.1_Missense_Mutation_p.R50H|VIM_uc001ipc.1_Missense_Mutation_p.R50H	NM_003380	NP_003371	P08670	VIME_HUMAN	vimentin	50	Head.			Missing (in Ref. 5; BAB71275).	cellular component disassembly involved in apoptosis|cellular component movement|interspecies interaction between organisms|muscle filament sliding	cytosol|intermediate filament	protein C-terminus binding|structural constituent of cytoskeleton			large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4						AGCACCAGCCGCAGCCTCTAC	0.756		NaN											0	0	0	1	0	9	22				
ANKRD26	22852	broad.mit.edu	37	10	27294520	27294520	+	Nonstop_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr10:27294520C>G	uc001ith.2	-	34	5301	c.5129G>C	c.(5128-5130)TGA>TCA	p.*1710S	ANKRD26_uc001itg.2_Nonstop_Mutation_p.*1397S|ANKRD26_uc009xku.1_Nonstop_Mutation_p.*1711S	NM_014915	NP_055730	Q9UPS8	ANR26_HUMAN	ankyrin repeat domain 26	1710						centrosome				large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)|skin(1)	4						TCTTATCTTTCAGATCATATA	0.279		NaN											0	0	0	1	0	17	55				
YME1L1	10730	broad.mit.edu	37	10	27403470	27403470	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr10:27403470C>G	uc001iti.2	-	19	2340	c.2158G>C	c.(2158-2160)GAA>CAA	p.E720Q	YME1L1_uc001itj.2_Missense_Mutation_p.E663Q|YME1L1_uc010qdl.1_Missense_Mutation_p.E630Q|YME1L1_uc009xkv.2_RNA	NM_139312	NP_647473	Q96TA2	YMEL1_HUMAN	YME1-like 1 isoform 1	720					protein catabolic process|proteolysis	membrane|mitochondrion	ATP binding|metal ion binding|metalloendopeptidase activity|nucleoside-triphosphatase activity			ovary(1)	1						ATTCTTATTTCTTGTTCGATG	0.328		NaN											0	0	0	1	0	10	39				
MASTL	84930	broad.mit.edu	37	10	27458964	27458964	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr10:27458964G>A	uc001itm.2	+	8	1715	c.1076G>A	c.(1075-1077)GGT>GAT	p.G359D	MASTL_uc001itl.2_Missense_Mutation_p.G359D|MASTL_uc009xkw.1_Missense_Mutation_p.G359D|MASTL_uc009xkx.1_RNA	NM_032844	NP_116233	Q96GX5	GWL_HUMAN	microtubule associated serine/threonine	359	Protein kinase.				cell division|G2/M transition of mitotic cell cycle|mitosis|negative regulation of protein phosphatase type 2A activity|regulation of cell cycle|response to DNA damage stimulus	centrosome|cleavage furrow|nucleus	ATP binding|protein phosphatase 2A binding|protein serine/threonine kinase activity			stomach(1)|ovary(1)|lung(1)	3						GAGACGAAAGGTTTCAATAAA	0.433		NaN											0	0	0	1	0	18	73				
MKX	283078	broad.mit.edu	37	10	28032180	28032180	+	Silent	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr10:28032180G>C	uc001ity.3	-	2	390	c.165C>G	c.(163-165)CTC>CTG	p.L55L	MKX_uc001itx.3_Silent_p.L55L	NM_173576	NP_775847	Q8IYA7	MKX_HUMAN	mohawk homeobox	55					muscle organ development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1						GTCTCAGGCCGAGGTTGTCCT	0.746		NaN											0	0	0	1	0	4	22				
SVIL	6840	broad.mit.edu	37	10	29754631	29754631	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr10:29754631G>A	uc001iut.1	-	34	6779	c.6026C>T	c.(6025-6027)TCC>TTC	p.S2009F	LOC387647_uc001iuo.1_Intron|LOC387647_uc001iup.2_Intron|LOC387647_uc001iuq.1_Intron|SVIL_uc010qdw.1_Missense_Mutation_p.S923F|SVIL_uc001iuu.1_Missense_Mutation_p.S1583F	NM_021738	NP_068506	O95425	SVIL_HUMAN	supervillin isoform 2	2009					cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding			ovary(5)|upper_aerodigestive_tract(1)	6		Breast(68;0.103)				ATCCCCAGAGGAGCTGCTGAG	0.483		NaN											0	0	0	1	0	6	44				
EPC1	80314	broad.mit.edu	37	10	32575725	32575725	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr10:32575725C>T	uc001iwg.1	-	9	1558	c.1288G>A	c.(1288-1290)GAT>AAT	p.D430N	EPC1_uc001iwi.3_Missense_Mutation_p.D380N|EPC1_uc009xlt.2_Missense_Mutation_p.D380N|EPC1_uc001iwh.1_Missense_Mutation_p.D430N	NM_025209	NP_079485	Q9H2F5	EPC1_HUMAN	enhancer of polycomb 1	430					histone H2A acetylation|histone H4 acetylation|negative regulation of gene expression, epigenetic|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|regulation of growth|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear membrane|Piccolo NuA4 histone acetyltransferase complex				ovary(3)|central_nervous_system(1)	4		Prostate(175;0.0199)				AATCCTCCATCTTTAGGACTA	0.418		NaN											0	0	0	1	0	9	37				
RET	5979	broad.mit.edu	37	10	43615571	43615571	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr10:43615571G>A	uc001jal.2	+	15	2840	c.2650G>A	c.(2650-2652)GAG>AAG	p.E884K	RET_uc001jak.1_Missense_Mutation_p.E884K|RET_uc010qez.1_Missense_Mutation_p.E630K	NM_020975	NP_066124	P07949	RET_HUMAN	ret proto-oncogene isoform a	884	Protein kinase.|Cytoplasmic (Potential).				homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development	integral to membrane	ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity	p.E884K(1)		thyroid(404)|adrenal_gland(20)|lung(9)|large_intestine(5)|breast(4)|ovary(4)|central_nervous_system(3)|urinary_tract(1)|NS(1)	451		Ovarian(717;0.0423)			Sunitinib(DB01268)	CCTGGTAGCTGAGGGGCGGAA	0.562		1	T|Mis|N|F	H4|PRKAR1A|NCOA4|PCM1|GOLGA5|TRIM33|KTN1|TRIM27|HOOK3	medullary thyroid| papillary thyroid|pheochromocytoma	medullary thyroid| papillary thyroid|pheochromocytoma	Hirschsprung disease		Multiple_Endocrine_Neoplasia_type_2B|Multiple_Endocrine_Neoplasia_type_2A|Familial_Medullary_Thyroid_Carcinoma				0	0	0	1	0	12	35				
C10orf128	170371	broad.mit.edu	37	10	50374939	50374939	+	Silent	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr10:50374939C>G	uc001jhn.3	-	3	239	c.213G>C	c.(211-213)CTG>CTC	p.L71L	C10orf128_uc001jhl.3_RNA|C10orf128_uc001jhm.3_Silent_p.L71L|C10orf128_uc010qgo.1_Silent_p.L71L|C10orf128_uc001jho.3_Silent_p.L71L	NM_001010863	NP_001010863	Q5T292	CJ128_HUMAN	hypothetical protein LOC170371 precursor	71	Cytoplasmic (Potential).					integral to membrane				lung(1)	1						GCGTGCTTTTCAGGTCGGAAG	0.612		NaN											0	0	0	1	0	28	80				
ERCC6	2074	broad.mit.edu	37	10	50678885	50678885	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr10:50678885G>A	uc001jhs.3	-	18	3275	c.3121C>T	c.(3121-3123)CAA>TAA	p.Q1041*	ERCC6_uc009xod.2_Nonsense_Mutation_p.Q201*|ERCC6_uc010qgr.1_Nonsense_Mutation_p.Q411*|ERCC6_uc001jhr.3_Nonsense_Mutation_p.Q409*	NM_000124	NP_000115	Q03468	ERCC6_HUMAN	excision repair cross-complementing rodent	1041	Nuclear localization signal (Potential).				base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair	nucleolus|soluble fraction|transcription elongation factor complex	ATP binding|chromatin binding|DNA binding|DNA-dependent ATPase activity|helicase activity|protein C-terminus binding|protein complex binding|protein N-terminus binding			lung(5)|breast(5)|ovary(3)|large_intestine(2)|skin(1)	16						AAGGCTGGTTGAATCCTTCTT	0.393		NaN						Direct_reversal_of_damage|NER					0	0	0	1	0	24	89				
CHAT	1103	broad.mit.edu	37	10	50857645	50857645	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr10:50857645C>G	uc001jhz.2	+	10	1627	c.1474C>G	c.(1474-1476)CAA>GAA	p.Q492E	CHAT_uc001jhv.1_Missense_Mutation_p.Q374E|CHAT_uc001jhx.1_Missense_Mutation_p.Q374E|CHAT_uc001jhy.1_Missense_Mutation_p.Q374E|CHAT_uc001jia.2_Missense_Mutation_p.Q374E|CHAT_uc010qgs.1_Missense_Mutation_p.Q374E	NM_020549	NP_065574	P28329	CLAT_HUMAN	choline acetyltransferase isoform 2	492					neurotransmitter biosynthetic process|neurotransmitter secretion	cytosol|nucleus	choline O-acetyltransferase activity			central_nervous_system(3)	3		all_neural(218;0.107)		GBM - Glioblastoma multiforme(2;0.000585)	Choline(DB00122)	CCCGGAAATTCAAGGCCACTT	0.617		NaN											0	0	0	1	0	22	98				
AGAP6	414189	broad.mit.edu	37	10	51768909	51768909	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr10:51768909G>T	uc001jix.3	+	8	1422	c.1024G>T	c.(1024-1026)GGA>TGA	p.G342*		NM_001077665	NP_001071133	Q5VW22	AGAP6_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH	342					regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding			skin(1)	1						CAAAGTCCCAGGAAAGTGGCC	0.463		NaN											1	0	7.57603e-17	1	8.02642e-17	35	141				
AGAP6	414189	broad.mit.edu	37	10	51769497	51769497	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr10:51769497G>A	uc001jix.3	+	8	2010	c.1612G>A	c.(1612-1614)GAC>AAC	p.D538N		NM_001077665	NP_001071133	Q5VW22	AGAP6_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH	538					regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding			skin(1)	1						TATTGTCAATGACCTAGCCAA	0.537		NaN											0	0	0	1	0	63	192				
CSTF2T	23283	broad.mit.edu	37	10	53459127	53459127	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr10:53459127G>T	uc001jjp.2	-	1	229	c.183C>A	c.(181-183)TTC>TTA	p.F61L	PRKG1_uc001jjm.2_Intron|PRKG1_uc001jjn.2_Intron|PRKG1_uc001jjo.2_Intron	NM_015235	NP_056050	Q9H0L4	CSTFT_HUMAN	cleavage stimulation factor, 3' pre-RNA, subunit	61	RRM.				mRNA processing	nucleus	nucleotide binding|RNA binding			ovary(1)	1				COAD - Colon adenocarcinoma(2;0.00736)|Colorectal(2;0.00898)|all cancers(4;0.0188)|GBM - Glioblastoma multiforme(4;0.0778)|Epithelial(53;0.122)		GGTATTCGCAGAAGCCATAGC	0.547		NaN											1	0	6.23363e-37	1	6.6668e-37	51	189				
ANK3	288	broad.mit.edu	37	10	61815494	61815494	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr10:61815494C>T	uc001jky.2	-	42	13179	c.12987G>A	c.(12985-12987)ATG>ATA	p.M4329I	ANK3_uc001jkw.2_Missense_Mutation_p.M953I|ANK3_uc009xpa.2_Missense_Mutation_p.M953I|ANK3_uc001jkx.2_Missense_Mutation_p.M997I|ANK3_uc010qih.1_Missense_Mutation_p.M1820I|ANK3_uc001jkz.3_Missense_Mutation_p.M1813I|ANK3_uc001jkv.2_Missense_Mutation_p.M352I	NM_020987	NP_066267	Q12955	ANK3_HUMAN	ankyrin 3 isoform 1	4329					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			skin(9)|ovary(6)|pancreas(2)|central_nervous_system(2)	19						AAGTCCTACTCATCTTTTTCA	0.473		NaN											0	0	0	1	0	79	216				
JMJD1C	221037	broad.mit.edu	37	10	64952854	64952854	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr10:64952854G>A	uc001jmn.2	-	16	6220	c.5920C>T	c.(5920-5922)CAG>TAG	p.Q1974*	JMJD1C_uc001jml.2_Nonsense_Mutation_p.Q1737*|JMJD1C_uc001jmm.2_Nonsense_Mutation_p.Q1686*|JMJD1C_uc010qiq.1_Nonsense_Mutation_p.Q1792*|JMJD1C_uc009xpi.2_Nonsense_Mutation_p.Q1792*|JMJD1C_uc009xpj.1_RNA|JMJD1C_uc001jmo.2_5'Flank|JMJD1C_uc009xpk.1_Nonsense_Mutation_p.Q872*	NM_032776	NP_116165	Q15652	JHD2C_HUMAN	jumonji domain containing 1C isoform a	1974					blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding			ovary(4)|breast(1)|central_nervous_system(1)	6	Prostate(12;0.0119)|all_hematologic(501;0.191)					TTTTGCTGCTGAGACTCAGGC	0.393		NaN											0	0	0	1	0	19	59				
MYPN	84665	broad.mit.edu	37	10	69902716	69902716	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr10:69902716G>T	uc001jnm.3	+	4	1107	c.922G>T	c.(922-924)GAG>TAG	p.E308*	MYPN_uc001jnl.1_Nonsense_Mutation_p.E308*|MYPN_uc001jnn.3_Nonsense_Mutation_p.E33*|MYPN_uc001jno.3_Nonsense_Mutation_p.E308*|MYPN_uc001jnp.1_Nonsense_Mutation_p.E308*|MYPN_uc009xps.2_Nonsense_Mutation_p.E308*|MYPN_uc009xpt.2_Nonsense_Mutation_p.E308*|MYPN_uc010qit.1_Nonsense_Mutation_p.E14*|MYPN_uc010qiu.1_RNA	NM_032578	NP_115967	Q86TC9	MYPN_HUMAN	myopalladin	308	Interaction with CARP.|Ig-like 1.					nucleus|sarcomere	actin binding			ovary(3)|skin(2)	5						TGAAGGCAAGGAGCTTGAAAA	0.453		NaN											1	0	2.23348e-06	1	2.29586e-06	14	60				
ATOH7	220202	broad.mit.edu	37	10	69991290	69991290	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr10:69991290C>T	uc001jnq.2	-	1	566	c.145G>A	c.(145-147)GAG>AAG	p.E49K		NM_145178	NP_660161	Q8N100	ATOH7_HUMAN	atonal homolog 7	49	Basic motif.				cell differentiation|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding				0						CGGCGGCGCTCGCGCGCGTTG	0.736		NaN											0	0	0	1	0	7	22				
HKDC1	80201	broad.mit.edu	37	10	71008329	71008329	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr10:71008329G>A	uc001jpf.3	+	10	1548	c.1415G>A	c.(1414-1416)AGG>AAG	p.R472K	HKDC1_uc010qje.1_Missense_Mutation_p.R335K	NM_025130	NP_079406	Q2TB90	HKDC1_HUMAN	hexokinase domain containing 1	472					glycolysis	mitochondrion|nucleus	ATP binding|hexokinase activity			ovary(4)|skin(1)	5						CAGATCGACAGGGTGCTGGCT	0.652		NaN											0	0	0	1	0	23	52				
CDH23	64072	broad.mit.edu	37	10	73437306	73437306	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr10:73437306G>A	uc001jrx.3	+	15	1985	c.1608G>A	c.(1606-1608)CGG>CGA	p.R536R	CDH23_uc001jry.2_Silent_p.R152R|CDH23_uc001jrz.2_Silent_p.R152R	NM_022124	NP_071407	Q9H251	CAD23_HUMAN	cadherin-like 23 isoform 1 precursor	536	Cadherin 5.|Extracellular (Potential).				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			central_nervous_system(5)|large_intestine(4)|ovary(2)	11						TCATTGCCCGGGACGGGGGCG	0.602		NaN											0	0	0	1	0	8	18				
NDST2	8509	broad.mit.edu	37	10	75567556	75567556	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr10:75567556G>A	uc001jvk.2	-	3	1395	c.591C>T	c.(589-591)CTC>CTT	p.L197L	NDST2_uc010qks.1_5'Flank|NDST2_uc010qkt.1_Silent_p.L74L|NDST2_uc009xro.2_5'Flank|NDST2_uc010qku.1_Silent_p.L74L	NM_003635	NP_003626	P52849	NDST2_HUMAN	heparan glucosaminyl	197	Lumenal (Potential).|Heparan sulfate N-deacetylase 2.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			ovary(1)	1	Prostate(51;0.0112)					GGTAGTCCCGGAGCCCCAAGT	0.577		NaN											0	0	0	1	0	17	63				
ZNF503	84858	broad.mit.edu	37	10	77158843	77158843	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr10:77158843C>T	uc001jxg.2	-	2	1941	c.1605G>A	c.(1603-1605)CTG>CTA	p.L535L	C10orf41_uc010qlf.1_5'Flank	NM_032772	NP_116161	Q96F45	ZN503_HUMAN	zinc finger protein 503	535	C2H2-type.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			ovary(1)	1	all_cancers(46;0.105)|all_epithelial(25;0.00449)|Prostate(51;0.0112)|Ovarian(15;0.088)					AGTGGCTCAGCAGCTCTTCGG	0.652		NaN											0	0	0	1	0	17	53				
MMRN2	79812	broad.mit.edu	37	10	88704122	88704122	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr10:88704122G>A	uc001kea.2	-	5	679	c.552C>T	c.(550-552)CTC>CTT	p.L184L	MMRN2_uc010qmn.1_Intron|MMRN2_uc009xtb.2_Silent_p.L141L	NM_024756	NP_079032	Q9H8L6	MMRN2_HUMAN	multimerin 2 precursor	184	Potential.					extracellular space				large_intestine(1)	1						CATCATTCTGGAGATCTCCCA	0.532		NaN											0	0	0	1	0	52	136				
GLUD1	2746	broad.mit.edu	37	10	88822464	88822464	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr10:88822464C>T	uc001keh.2	-	6	967	c.870G>A	c.(868-870)ATG>ATA	p.M290I	GLUD1_uc001keg.2_Missense_Mutation_p.M123I|GLUD1_uc010qmp.1_Missense_Mutation_p.M157I	NM_005271	NP_005262	P00367	DHE3_HUMAN	glutamate dehydrogenase 1 precursor	290					glutamate biosynthetic process|glutamate catabolic process|positive regulation of insulin secretion	mitochondrial matrix	ADP binding|ATP binding|glutamate dehydrogenase|glutamate dehydrogenase activity|GTP binding|identical protein binding|leucine binding|NAD+ binding				0					L-Glutamic Acid(DB00142)|NADH(DB00157)	CTAAAATGCTCATGTAAGAAG	0.388		NaN											0	0	0	1	0	13	27				
GLUD1	2746	broad.mit.edu	37	10	88822583	88822583	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr10:88822583C>T	uc001keh.2	-	6	848	c.751G>A	c.(751-753)GCA>ACA	p.A251T	GLUD1_uc001keg.2_Missense_Mutation_p.A84T|GLUD1_uc010qmp.1_Missense_Mutation_p.A118T	NM_005271	NP_005262	P00367	DHE3_HUMAN	glutamate dehydrogenase 1 precursor	251					glutamate biosynthetic process|glutamate catabolic process|positive regulation of insulin secretion	mitochondrial matrix	ADP binding|ATP binding|glutamate dehydrogenase|glutamate dehydrogenase activity|GTP binding|identical protein binding|leucine binding|NAD+ binding				0					L-Glutamic Acid(DB00142)|NADH(DB00157)	CAGGCGTGTGCATTAATATCC	0.418		NaN											0	0	0	1	0	7	25				
PTEN	5728	broad.mit.edu	37	10	89725197	89725197	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr10:89725197G>A	uc001kfb.2	+	10	2211	c.1180G>A	c.(1180-1182)GAA>AAA	p.E394K		NM_000314	NP_000305	P60484	PTEN_HUMAN	phosphatase and tensin homolog	394					activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.R55fs*1(4)|p.Y27fs*1(2)|p.N212fs*1(2)|p.G165_*404del(1)		endometrium(831)|central_nervous_system(657)|skin(121)|haematopoietic_and_lymphoid_tissue(101)|large_intestine(99)|prostate(97)|breast(73)|lung(65)|ovary(58)|thyroid(29)|stomach(29)|upper_aerodigestive_tract(25)|cervix(24)|liver(20)|vulva(17)|kidney(15)|NS(14)|soft_tissue(13)|urinary_tract(12)|eye(8)|pancreas(6)|salivary_gland(5)|bone(5)|biliary_tract(4)|autonomic_ganglia(2)|meninges(2)|testis(1)|oesophagus(1)	2334		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		ACCTTTTGATGAAGATCAGCA	0.328		31	D|Mis|N|F|S		glioma| prostate|endometrial	harmartoma|glioma| prostate|endometrial			Proteus_syndrome|Cowden_syndrome|Juvenile_Polyposis|Hereditary_Mixed_Polyposis_Syndrome_type_1|Bannayan-Riley-Ruvalcaba_syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			0	0	0	1	0	10	19		Valid		
KIF20B	9585	broad.mit.edu	37	10	91528126	91528126	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr10:91528126C>T	uc001kgs.1	+	30	5141	c.5069C>T	c.(5068-5070)TCT>TTT	p.S1690F	KIF20B_uc001kgr.1_Missense_Mutation_p.S1650F|KIF20B_uc001kgt.1_Missense_Mutation_p.S901F|KIF20B_uc009xtw.1_RNA	NM_016195	NP_057279	Q96Q89	KI20B_HUMAN	M-phase phosphoprotein 1	1690	Interaction with PIN1.				cell cycle arrest|cell division|microtubule-based movement|mitosis|regulation of mitosis	centrosome|microtubule|nucleolus|nucleoplasm|spindle	ATP binding|ATPase activity|microtubule motor activity|WW domain binding			ovary(1)|pancreas(1)|skin(1)	3						GATAGAAATTCTTCTGTCAAA	0.294		NaN											0	0	0	1	0	15	30				
CC2D2B	387707	broad.mit.edu	37	10	97769626	97769626	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr10:97769626G>C	uc001kll.2	+	3	265	c.66G>C	c.(64-66)AAG>AAC	p.K22N	uc001klg.1_Intron|uc001klj.1_Intron|CC2D2B_uc001klk.2_RNA|CC2D2B_uc010qop.1_Missense_Mutation_p.K22N	NM_001001732	NP_001001732	Q6DHV5	C2D2B_HUMAN	coiled-coil and C2 domain containing 2B isoform	22										ovary(1)	1		Colorectal(252;0.158)		Epithelial(162;7.08e-08)|all cancers(201;2.71e-06)		ATATAAGAAAGAATTGGCTTG	0.338		NaN											0	0	0	1	0	11	36				
DNTT	1791	broad.mit.edu	37	10	98087257	98087257	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr10:98087257G>A	uc001kmf.2	+	7	1077	c.907G>A	c.(907-909)GTG>ATG	p.V303M	DNTT_uc001kmg.2_Missense_Mutation_p.V303M	NM_004088	NP_004079	P04053	TDT_HUMAN	terminal deoxynucleotidyltransferase isoform 1	303	Mediates interaction with DNTTIP2.				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)		TGTCAGCTGTGTGACCAGGGC	0.517		NaN											0	0	0	1	0	73	188				
TLL2	7093	broad.mit.edu	37	10	98145844	98145844	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr10:98145844G>A	uc001kml.1	-	15	2207	c.1981C>T	c.(1981-1983)CAG>TAG	p.Q661*		NM_012465	NP_036597	Q9Y6L7	TLL2_HUMAN	tolloid-like 2 precursor	661	CUB 3.				cell differentiation|multicellular organismal development|proteolysis	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			ovary(1)|pancreas(1)|skin(1)	3		Colorectal(252;0.0846)		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)		ACTTCAAACTGAAGGGAGATC	0.522		NaN											0	0	0	1	0	23	73				
C10orf12	26148	broad.mit.edu	37	10	98744637	98744637	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr10:98744637G>C	uc001kmv.2	+	1	3597	c.3490G>C	c.(3490-3492)GAA>CAA	p.E1164Q		NM_015652	NP_056467	Q8N655	CJ012_HUMAN	hypothetical protein LOC26148	1164										skin(2)	2		Colorectal(252;0.172)		Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)		CTCCAGGAAAGAAAAAGAGAA	0.493		NaN											0	0	0	1	0	23	58				
RRP12	23223	broad.mit.edu	37	10	99123623	99123623	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr10:99123623C>T	uc001knf.2	-	30	3694	c.3555G>A	c.(3553-3555)GTG>GTA	p.V1185V	RRP12_uc001kne.2_Silent_p.V200V|RRP12_uc009xvl.2_Silent_p.V302V|RRP12_uc009xvm.2_Silent_p.V903V|RRP12_uc010qou.1_Silent_p.V1124V|RRP12_uc009xvn.2_Silent_p.V1085V	NM_015179	NP_055994	Q5JTH9	RRP12_HUMAN	ribosomal RNA processing 12 homolog isoform 1	1185						integral to membrane|nuclear membrane|nucleolus	protein binding			ovary(2)|central_nervous_system(1)	3		Colorectal(252;0.162)		Epithelial(162;2.72e-09)|all cancers(201;1.76e-07)		TCCTGATGATCACATCTTCCA	0.542		NaN											0	0	0	1	0	44	173				
C10orf28	27291	broad.mit.edu	37	10	99994257	99994257	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr10:99994257C>G	uc001kow.3	+	6	2311	c.2016C>G	c.(2014-2016)TTC>TTG	p.F672L	C10orf28_uc001kox.3_Missense_Mutation_p.F686L|C10orf28_uc001koy.3_Missense_Mutation_p.F672L|C10orf28_uc009xvx.2_Missense_Mutation_p.F672L|C10orf28_uc009xvy.2_Missense_Mutation_p.F78L|C10orf28_uc001koz.3_RNA	NM_014472	NP_055287	Q4KMY3	Q4KMY3_HUMAN	growth inhibition and differentiation related	672							nucleotide binding			large_intestine(1)|skin(1)	2		Colorectal(252;0.234)		Epithelial(162;7.18e-11)|all cancers(201;8.75e-09)		TAGGAGTATTCTCCAGTCCAA	0.323		NaN											0	0	0	1	0	15	44				
DNMBP	23268	broad.mit.edu	37	10	101639649	101639649	+	Silent	SNP	G	G	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr10:101639649G>T	uc001kqj.2	-	16	4559	c.4467C>A	c.(4465-4467)CTC>CTA	p.L1489L	DNMBP_uc010qpl.1_Silent_p.L425L|DNMBP_uc001kqg.2_Silent_p.L777L|DNMBP_uc001kqh.2_Silent_p.L1121L	NM_015221	NP_056036	Q6XZF7	DNMBP_HUMAN	dynamin binding protein	1489					intracellular signal transduction|regulation of Rho protein signal transduction	cell junction|cytoskeleton|Golgi stack|synapse	protein binding|Rho guanyl-nucleotide exchange factor activity			ovary(5)|skin(1)	6		Colorectal(252;0.234)		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)		ATCCTTTGACGAGGTCTTGAC	0.547		NaN											1	0	1.08312e-15	1	1.14393e-15	32	101				
FBXW4	6468	broad.mit.edu	37	10	103372196	103372196	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr10:103372196G>A	uc001kto.2	-	7	1221	c.875C>T	c.(874-876)CCA>CTA	p.P292L		NM_022039	NP_071322	P57775	FBXW4_HUMAN	F-box and WD repeat domain containing 4	292	WD 3.				ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway	ubiquitin ligase complex				skin(1)	1		Colorectal(252;0.123)		Epithelial(162;4.35e-08)|all cancers(201;1.92e-06)		CCCAGCCCCTGGGGGAAAGTC	0.582		NaN											0	0	0	1	0	33	127				
C10orf76	79591	broad.mit.edu	37	10	103607320	103607320	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr10:103607320C>A	uc009xwy.1	-	26	2137	c.2035G>T	c.(2035-2037)GAA>TAA	p.E679*	C10orf76_uc009xwx.1_RNA	NM_024541	NP_078817	Q5T2E6	CJ076_HUMAN	hypothetical protein LOC79591	679						integral to membrane					0		Colorectal(252;0.123)		Epithelial(162;2.41e-08)|all cancers(201;6.41e-07)		AGCAGGACTTCTTGGCTGAGT	0.592		NaN											1	0	1.06801e-11	1	1.11821e-11	25	83				
INA	9118	broad.mit.edu	37	10	105037875	105037875	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr10:105037875G>A	uc001kws.2	+	1	956	c.907G>A	c.(907-909)GAG>AAG	p.E303K	uc001kwr.2_5'Flank|INA_uc009xxj.2_Missense_Mutation_p.E303K	NM_032727	NP_116116	Q16352	AINX_HUMAN	internexin neuronal intermediate filament	303	Coil 2.|Rod.				cell differentiation|nervous system development	neurofilament	structural constituent of cytoskeleton			ovary(1)|breast(1)	2				Epithelial(162;3.45e-09)|all cancers(201;9.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.198)		GCGCAGCACCGAGGCCATCCG	0.657		NaN											0	0	0	1	0	17	48				
SLK	9748	broad.mit.edu	37	10	105762646	105762646	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr10:105762646G>C	uc001kxo.1	+	9	1744	c.1710G>C	c.(1708-1710)CAG>CAC	p.Q570H	SLK_uc001kxp.1_Missense_Mutation_p.Q570H	NM_014720	NP_055535	Q9H2G2	SLK_HUMAN	serine/threonine kinase 2	570	Glu-rich.				apoptosis|nucleotide-excision repair	cytoplasm|plasma membrane	ATP binding|DNA binding|nuclease activity|protein serine/threonine kinase activity			ovary(2)|stomach(2)|skin(2)|lung(1)|kidney(1)	8		Colorectal(252;0.178)		Epithelial(162;5.81e-10)|all cancers(201;2.35e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		AGGATACGCAGAGTAATGATG	0.443		NaN											0	0	0	1	0	11	48				
C10orf79	80217	broad.mit.edu	37	10	105948061	105948061	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr10:105948061C>T	uc001kxw.2	-	13	1770	c.1654G>A	c.(1654-1656)GAG>AAG	p.E552K	C10orf79_uc009xxq.2_5'Flank|C10orf79_uc001kxx.3_Missense_Mutation_p.E553K	NM_025145	NP_079421	Q8NDM7	WDR96_HUMAN	hypothetical protein LOC80217	552											0		Colorectal(252;0.178)		Epithelial(162;4.83e-10)|all cancers(201;2.26e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0194)		GTGAACATCTCCAACCTGCTT	0.438		NaN											0	0	0	1	0	18	48				
SORCS1	114815	broad.mit.edu	37	10	108378015	108378015	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr10:108378015C>T	uc001kym.2	-	21	2820	c.2812G>A	c.(2812-2814)GAG>AAG	p.E938K	SORCS1_uc001kyl.2_Missense_Mutation_p.E938K|SORCS1_uc009xxs.2_Missense_Mutation_p.E938K|SORCS1_uc001kyn.1_Missense_Mutation_p.E938K|SORCS1_uc001kyo.2_Missense_Mutation_p.E938K	NM_052918	NP_443150	Q8WY21	SORC1_HUMAN	SORCS receptor 1 isoform a	938	Lumenal (Potential).					integral to membrane	neuropeptide receptor activity|protein binding			breast(1)|central_nervous_system(1)	2		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		ATGCTTCCCTCCAAGGTGATC	0.463		NaN											0	0	0	1	0	15	51				
SMC3	9126	broad.mit.edu	37	10	112361525	112361525	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr10:112361525G>A	uc001kze.2	+	24	2901	c.2775G>A	c.(2773-2775)ATG>ATA	p.M925I		NM_005445	NP_005436	Q9UQE7	SMC3_HUMAN	structural maintenance of chromosomes 3	925					cell division|DNA mediated transformation|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic spindle organization|negative regulation of DNA endoreduplication|signal transduction|sister chromatid cohesion	basement membrane|chromatin|chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nuclear matrix|nucleoplasm|spindle pole	ATP binding|dynein binding|microtubule motor activity|protein heterodimerization activity			ovary(1)|central_nervous_system(1)|skin(1)	3		Breast(234;0.0848)|Lung NSC(174;0.238)		Epithelial(162;0.00206)|all cancers(201;0.0227)|BRCA - Breast invasive adenocarcinoma(275;0.127)		TGGAAAAGATGACAAATCGGC	0.378		NaN											0	0	0	1	0	24	60				
PNLIPRP1	5407	broad.mit.edu	37	10	118354358	118354358	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr10:118354358G>C	uc001lco.1	+	5	465	c.447G>C	c.(445-447)CAG>CAC	p.Q149H	PNLIPRP1_uc001lcp.2_Missense_Mutation_p.Q149H|PNLIPRP1_uc009xys.1_RNA	NM_006229	NP_006220	P54315	LIPR1_HUMAN	pancreatic lipase-related protein 1 precursor	149					lipid metabolic process		calcium ion binding|triglyceride lipase activity			ovary(1)|breast(1)	2				all cancers(201;0.0161)		AGGTGGCCCAGATGCTCGACA	0.587		NaN											0	0	0	1	0	11	49				
KIAA1598	57698	broad.mit.edu	37	10	118704476	118704476	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr10:118704476C>T	uc009xyw.2	-	8	1168	c.670G>A	c.(670-672)GAG>AAG	p.E224K	KIAA1598_uc001lcz.3_Missense_Mutation_p.E224K|KIAA1598_uc010qso.1_Missense_Mutation_p.E164K|KIAA1598_uc010qsp.1_Missense_Mutation_p.E224K|KIAA1598_uc010qsq.1_Missense_Mutation_p.E164K|KIAA1598_uc001lcy.3_Missense_Mutation_p.E194K	NM_001127211	NP_001120683	A0MZ66	SHOT1_HUMAN	shootin1 isoform a	224	Potential.				axon guidance	axon					0				all cancers(201;0.00494)		AGGTCCTTCTCCAGCTCCAGG	0.318		NaN											0	0	0	1	0	51	199				
PDZD8	118987	broad.mit.edu	37	10	119044215	119044215	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr10:119044215G>C	uc001lde.1	-	5	2228	c.2029C>G	c.(2029-2031)CAA>GAA	p.Q677E		NM_173791	NP_776152	Q8NEN9	PDZD8_HUMAN	PDZ domain containing 8	677					intracellular signal transduction		metal ion binding				0		Colorectal(252;0.19)		all cancers(201;0.0121)		TCCCATGTTTGACGGTCGTCC	0.433		NaN											0	0	0	1	0	14	63				
C10orf88	80007	broad.mit.edu	37	10	124697599	124697599	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr10:124697599G>A	uc001lgw.2	-	5	950	c.725C>T	c.(724-726)TCC>TTC	p.S242F	C10orf88_uc001lgx.2_Missense_Mutation_p.S144F	NM_024942	NP_079218	Q9H8K7	CJ088_HUMAN	hypothetical protein LOC80007	242											0		all_neural(114;0.0765)|Lung NSC(174;0.163)|all_lung(145;0.205)		Colorectal(40;0.0686)|COAD - Colon adenocarcinoma(40;0.0735)		GGTAGATGAGGATTGTAGTCC	0.403		NaN											0	0	0	1	0	32	102				
ZRANB1	54764	broad.mit.edu	37	10	126631753	126631753	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr10:126631753C>T	uc001lic.2	+	1	1062	c.691C>T	c.(691-693)CAG>TAG	p.Q231*	ZRANB1_uc010qug.1_Nonsense_Mutation_p.Q257*	NM_017580	NP_060050	Q9UGI0	ZRAN1_HUMAN	zinc finger, RAN-binding domain containing 1	231					positive regulation of Wnt receptor signaling pathway|protein K63-linked deubiquitination|Wnt receptor signaling pathway	aggresome|centrosome|intermediate filament cytoskeleton|nucleolus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity|zinc ion binding			ovary(1)|kidney(1)	2		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.172)		Colorectal(40;0.113)|COAD - Colon adenocarcinoma(40;0.119)		AATGGATTTTCAGAGGATTGA	0.433		NaN											0	0	0	1	0	22	54				
MKI67	4288	broad.mit.edu	37	10	129904353	129904353	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr10:129904353G>A	uc001lke.2	-	13	5946	c.5751C>T	c.(5749-5751)ATC>ATT	p.I1917I	MKI67_uc001lkf.2_Silent_p.I1557I|MKI67_uc009yav.1_Silent_p.I1492I|MKI67_uc009yaw.1_Silent_p.I1067I	NM_002417	NP_002408	P46013	KI67_HUMAN	antigen identified by monoclonal antibody Ki-67	1917	16 X 122 AA approximate repeats.|8.				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)				CAAATGTGTTGATGTCTTTCT	0.478		NaN											0	0	0	1	0	64	200				
GLRX3	10539	broad.mit.edu	37	10	131969878	131969878	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr10:131969878C>G	uc001lkm.1	+	8	824	c.802C>G	c.(802-804)CTG>GTG	p.L268V	GLRX3_uc001lkn.1_Missense_Mutation_p.L268V|GLRX3_uc001lko.2_RNA	NM_006541	NP_006532	O76003	GLRX3_HUMAN	glutaredoxin 3	268	Glutaredoxin 2.				cell redox homeostasis|negative regulation of cardiac muscle hypertrophy|regulation of the force of heart contraction	cell cortex	electron carrier activity|iron-sulfur cluster binding|metal ion binding|protein disulfide oxidoreductase activity				0		all_cancers(35;9.59e-07)|all_epithelial(44;1.48e-06)|Lung NSC(174;0.00566)|all_lung(145;0.00949)|Colorectal(57;0.142)|all_neural(114;0.16)|Breast(234;0.173)|Glioma(114;0.222)		OV - Ovarian serous cystadenocarcinoma(35;0.00218)		CAAACAAATTCTGGAAATACT	0.254		NaN											0	0	0	1	0	19	68				
JAKMIP3	282973	broad.mit.edu	37	10	133918366	133918366	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr10:133918366C>T	uc001lkx.3	+	1	54	c.54C>T	c.(52-54)CTC>CTT	p.L18L		NM_001105521	NP_001098991			Janus kinase and microtubule interacting protein											breast(1)	1		all_cancers(35;5.63e-09)|all_epithelial(44;9.25e-07)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|Colorectal(31;0.0721)|all_neural(114;0.0726)|Breast(234;0.0949)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;0.000104)|Epithelial(32;0.000142)|all cancers(32;0.000185)|BRCA - Breast invasive adenocarcinoma(275;0.224)		CAGAGGCCCTCGCGGCGCTGC	0.667		NaN											0	0	0	1	0	3	6				
PWWP2B	170394	broad.mit.edu	37	10	134219649	134219649	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr10:134219649G>A	uc001lll.3	+	2	1674	c.1645G>A	c.(1645-1647)GAA>AAA	p.E549K	PWWP2B_uc009ybe.2_Intron	NM_138499	NP_612508	Q6NUJ5	PWP2B_HUMAN	PWWP domain containing 2 isoform 1	549	PWWP.										0		all_cancers(35;6.69e-12)|all_epithelial(44;1.55e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)|all_hematologic(284;0.224)		OV - Ovarian serous cystadenocarcinoma(35;7.49e-05)|Epithelial(32;0.00016)|all cancers(32;0.000186)		CCCTTTCTCTGAATTTTTCAA	0.488		NaN											0	0	0	1	0	32	84				
KNDC1	85442	broad.mit.edu	37	10	134999708	134999708	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr10:134999708G>A	uc001llz.1	+	6	857	c.856G>A	c.(856-858)GAG>AAG	p.E286K	KNDC1_uc001lma.1_Missense_Mutation_p.E221K	NM_152643	NP_689856	Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND)	286					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction					upper_aerodigestive_tract(1)|ovary(1)	2		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		CCTGGATGCCGAGCGCACCCT	0.701		NaN											0	0	0	1	0	5	17				
CDHR5	53841	broad.mit.edu	37	11	624652	624652	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:624652C>T	uc001lqj.2	-	2	271	c.166G>A	c.(166-168)GAG>AAG	p.E56K	CDHR5_uc001lqk.2_Missense_Mutation_p.E56K|CDHR5_uc009ycc.2_5'UTR|CDHR5_uc009ycd.2_Missense_Mutation_p.E56K|CDHR5_uc001lql.2_Missense_Mutation_p.E56K|CDHR5_uc001lqm.2_5'UTR|CDHR5_uc009yce.1_Missense_Mutation_p.E56K|CDHR5_uc001lqn.1_Missense_Mutation_p.E56K	NM_021924	NP_068743	Q9HBB8	CDHR5_HUMAN	mucin and cadherin-like isoform 1	56	Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0						TCCTGGCCCTCCGGGACGTGG	0.552		NaN											0	0	0	1	0	36	127				
AP2A2	161	broad.mit.edu	37	11	1008107	1008107	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:1008107G>A	uc001lss.2	+	18	2573	c.2392G>A	c.(2392-2394)GAG>AAG	p.E798K		NM_012305	NP_036437	O94973	AP2A2_HUMAN	adaptor-related protein complex 2, alpha 2	798					axon guidance|endocytosis|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|viral reproduction	AP-2 adaptor complex|cytosol	lipid binding|protein transporter activity				0		all_cancers(49;9.46e-06)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.75e-24)|BRCA - Breast invasive adenocarcinoma(625;5.73e-05)|Lung(200;0.0696)|LUSC - Lung squamous cell carcinoma(625;0.082)		CGACTTCACGGAGGCGCCAGT	0.657		NaN											0	0	0	1	0	9	19				
MUC2	4583	broad.mit.edu	37	11	1088741	1088741	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:1088741G>A	uc001lsx.1	+	26	3553	c.3526G>A	c.(3526-3528)GAG>AAG	p.E1176K		NM_002457	NP_002448	Q02817	MUC2_HUMAN	mucin 2 precursor	1176						inner mucus layer|outer mucus layer	protein binding			lung(1)|breast(1)	2		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	CATCTATGAGGAGGATCTGAA	0.612		NaN											0	0	0	1	0	4	22				
SLC22A18	5002	broad.mit.edu	37	11	2929501	2929501	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:2929501C>T	uc001lwx.2	+	3	401	c.183C>T	c.(181-183)TTC>TTT	p.F61F	SLC22A18_uc001lwy.2_Silent_p.F61F|SLC22A18_uc001lwz.2_Silent_p.F61F	NM_183233	NP_899056	Q96BI1	S22AI_HUMAN	tumor suppressing subtransferable candidate 5	61	Helical; (Potential).				excretion|organic cation transport	apical plasma membrane|cytoplasmic part|integral to membrane|nuclear envelope	drug:hydrogen antiporter activity|symporter activity|ubiquitin protein ligase binding			central_nervous_system(2)|ovary(1)	3		all_epithelial(84;0.000124)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)|all_lung(207;0.198)		BRCA - Breast invasive adenocarcinoma(625;0.00256)|LUSC - Lung squamous cell carcinoma(625;0.192)		CCATTGCCTTCGGCTACCTGC	0.617		NaN											0	0	0	1	0	25	48				
SLC22A18	5002	broad.mit.edu	37	11	2946264	2946264	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:2946264C>T	uc001lwx.2	+	11	1330	c.1112C>T	c.(1111-1113)TCT>TTT	p.S371F	SLC22A18_uc001lwy.2_Missense_Mutation_p.S371F|SLC22A18_uc001lwz.2_Missense_Mutation_p.S273F	NM_183233	NP_899056	Q96BI1	S22AI_HUMAN	tumor suppressing subtransferable candidate 5	371					excretion|organic cation transport	apical plasma membrane|cytoplasmic part|integral to membrane|nuclear envelope	drug:hydrogen antiporter activity|symporter activity|ubiquitin protein ligase binding			central_nervous_system(2)|ovary(1)	3		all_epithelial(84;0.000124)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)|all_lung(207;0.198)		BRCA - Breast invasive adenocarcinoma(625;0.00256)|LUSC - Lung squamous cell carcinoma(625;0.192)		CTCTGCGCCTCTGTACAACCA	0.652		NaN											0	0	0	1	0	35	103				
OR51D1	390038	broad.mit.edu	37	11	4661773	4661773	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:4661773C>G	uc010qyk.1	+	1	753	c.753C>G	c.(751-753)TTC>TTG	p.F251L		NM_001004751	NP_001004751	Q8NGF3	O51D1_HUMAN	olfactory receptor, family 51, subfamily D,	251	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;2.74e-13)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|GBM - Glioblastoma multiforme(2;0.0841)|LUSC - Lung squamous cell carcinoma(625;0.19)		TCAAGGCTTTCAACACCTGCA	0.557		NaN											0	0	0	1	0	33	94				
OR52A4	390053	broad.mit.edu	37	11	5142389	5142389	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:5142389G>A	uc001lzz.1	-	1	420	c.420C>T	c.(418-420)TTC>TTT	p.F140F	OR52A4_uc001maa.2_RNA	NM_001005222	NP_001005222			olfactory receptor, family 52, subfamily A,											ovary(2)	2		Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675)		Epithelial(150;1.7e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2)		GCTGTCGAGTGAATACTATAG	0.458		NaN											0	0	0	1	0	12	39				
OR52D1	390066	broad.mit.edu	37	11	5510634	5510634	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:5510634C>T	uc010qzg.1	+	1	698	c.698C>T	c.(697-699)TCT>TTT	p.S233F	HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc001maq.1_Intron	NM_001005163	NP_001005163	Q9H346	O52D1_HUMAN	olfactory receptor, family 52, subfamily D,	233	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)	1		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;3.46e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CATCTTCCATCTCATGATGCC	0.512		NaN											0	0	0	1	0	35	161				
UBQLN3	50613	broad.mit.edu	37	11	5530516	5530516	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:5530516G>A	uc001may.1	-	2	359	c.273C>T	c.(271-273)ATC>ATT	p.I91I	HBG2_uc001mak.1_Intron	NM_017481	NP_059509	Q9H347	UBQL3_HUMAN	ubiquilin 3	91	Ubiquitin-like.									ovary(3)	3		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GCTGCCTCTTGATGACCAGGT	0.567		NaN											0	0	0	1	0	21	75				
OR56A3	390083	broad.mit.edu	37	11	5968681	5968681	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:5968681C>T	uc010qzt.1	+	1	105	c.105C>T	c.(103-105)CTC>CTT	p.L35L		NM_001003443	NP_001003443	Q8NH54	O56A3_HUMAN	olfactory receptor, family 56, subfamily A,	35	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;9.41e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCCTGCCCCTCAGCCTCCTTT	0.582		NaN											0	0	0	1	0	41	96				
DCHS1	8642	broad.mit.edu	37	11	6661080	6661080	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:6661080C>T	uc001mem.1	-	2	2175	c.1765G>A	c.(1765-1767)GAG>AAG	p.E589K		NM_003737	NP_003728	Q96JQ0	PCD16_HUMAN	dachsous 1 precursor	589	Cadherin 6.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|large_intestine(1)|pancreas(1)	5		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGGGTGCCCTCAGGCAGTGAG	0.567		NaN											0	0	0	1	0	11	65				
RBMXL2	27288	broad.mit.edu	37	11	7110619	7110619	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:7110619G>A	uc001mfc.2	+	1	455	c.268G>A	c.(268-270)GAG>AAG	p.E90K		NM_014469	NP_055284	O75526	HNRGT_HUMAN	testes-specific heterogenous nuclear	90						nucleus|ribonucleoprotein complex	nucleotide binding|RNA binding				0				Epithelial(150;5.14e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		ACCGGCGTTCGAGAGCAGCCG	0.602		NaN											0	0	0	1	0	6	22				
ASCL3	56676	broad.mit.edu	37	11	8959695	8959695	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:8959695C>T	uc001mhd.1	-	2	74	c.14G>A	c.(13-15)AGA>AAA	p.R5K		NM_020646	NP_065697	Q9NQ33	ASCL3_HUMAN	ASCL3	4					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleolus	DNA binding				0				Epithelial(150;1.48e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0228)		AGAGTTGCCTCTGTTGTCCAT	0.443		NaN											0	0	0	1	0	80	227				
SCUBE2	57758	broad.mit.edu	37	11	9111371	9111371	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:9111371C>G	uc001mhh.1	-	2	219	c.139G>C	c.(139-141)GAT>CAT	p.D47H	SCUBE2_uc001mhi.1_Missense_Mutation_p.D47H|SCUBE2_uc001mhj.1_Missense_Mutation_p.D47H	NM_020974	NP_066025	Q9NQ36	SCUB2_HUMAN	CEGP1 protein precursor	47	EGF-like 1; calcium-binding (Potential).					extracellular region	calcium ion binding			ovary(1)|skin(1)	2				all cancers(16;8.57e-09)|Epithelial(150;4.42e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0116)		GCACACTCATCTACATCTGCA	0.443		NaN											0	0	0	1	0	27	106				
AMPD3	272	broad.mit.edu	37	11	10483090	10483090	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:10483090G>A	uc001mio.1	+	2	359	c.24G>A	c.(22-24)CTG>CTA	p.L8L	AMPD3_uc010rbz.1_5'UTR|AMPD3_uc001min.1_Silent_p.L17L|AMPD3_uc009yfw.1_RNA|AMPD3_uc009yfx.1_Silent_p.L8L|AMPD3_uc009yfz.2_RNA|AMPD3_uc001mip.1_Silent_p.L15L|AMPD3_uc009yfy.2_Silent_p.L8L	NM_001025389	NP_001020560	Q01432	AMPD3_HUMAN	adenosine monophosphate deaminase 3 isoform 1B	8					AMP catabolic process|purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			large_intestine(1)|ovary(1)	2				all cancers(16;1.14e-08)|Epithelial(150;2.83e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0291)		TTCCCAAGCTGAACATCTCTG	0.537		NaN											0	0	0	1	0	49	166				
MICAL2	9645	broad.mit.edu	37	11	12245000	12245000	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:12245000C>T	uc001mjz.2	+	12	1780	c.1492C>T	c.(1492-1494)CTC>TTC	p.L498F	MICAL2_uc010rch.1_Missense_Mutation_p.L498F|MICAL2_uc001mka.2_Missense_Mutation_p.L498F|MICAL2_uc010rci.1_Missense_Mutation_p.L498F|MICAL2_uc001mkb.2_Missense_Mutation_p.L498F|MICAL2_uc001mkc.2_Missense_Mutation_p.L498F|MICAL2_uc001mkd.2_Missense_Mutation_p.L327F|MICAL2_uc010rcj.1_5'UTR	NM_014632	NP_055447	O94851	MICA2_HUMAN	microtubule associated monoxygenase, calponin	498						cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			upper_aerodigestive_tract(2)	2				Epithelial(150;0.00552)		GCACTACCCTCTCGAGAGACT	0.562		NaN											0	0	0	1	0	28	121				
BTBD10	84280	broad.mit.edu	37	11	13427306	13427306	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:13427306C>G	uc001mkz.2	-	7	1163	c.906G>C	c.(904-906)CAG>CAC	p.Q302H	BTBD10_uc010rcl.1_Missense_Mutation_p.Q310H|BTBD10_uc001mla.2_Missense_Mutation_p.Q286H|BTBD10_uc009ygn.2_RNA|BTBD10_uc010rcm.1_Missense_Mutation_p.Q254H|BTBD10_uc010rcn.1_Missense_Mutation_p.Q271H|BTBD10_uc009ygo.2_Missense_Mutation_p.Q254H	NM_032320	NP_115696	Q9BSF8	BTBDA_HUMAN	K+ channel tetramerization protein	302						nucleus					0				Epithelial(150;0.0214)		GTTCCCCACTCTGGGCACTAG	0.428		NaN											0	0	0	1	0	44	117				
RPS13	6207	broad.mit.edu	37	11	17099182	17099182	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:17099182G>A	uc001mmp.2	-	1	39	c.7C>T	c.(7-9)CGC>TGC	p.R3C		NM_001017	NP_001008	P62277	RS13_HUMAN	ribosomal protein S13	3					endocrine pancreas development|negative regulation of RNA splicing|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit|nucleolus	mRNA binding|protein binding|structural constituent of ribosome				0						GCATGCATGCGACCCATGATG	0.652		NaN											0	0	0	1	0	14	50				
NAV2	89797	broad.mit.edu	37	11	20078127	20078127	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:20078127C>T	uc010rdm.1	+	21	5313	c.4952C>T	c.(4951-4953)TCA>TTA	p.S1651L	NAV2_uc001mpp.2_Intron|NAV2_uc001mpr.3_Intron|NAV2_uc001mpt.2_Intron|NAV2_uc009yhx.2_Intron|NAV2_uc009yhy.1_Intron|NAV2_uc009yhz.2_Intron|NAV2_uc001mpu.2_Intron	NM_145117	NP_660093	Q8IVL1	NAV2_HUMAN	neuron navigator 2 isoform 2	1651	Ser-rich.					nucleus	ATP binding|helicase activity			skin(4)|ovary(1)|pancreas(1)	6						CTTCACAGCTCACTTCATTTC	0.408		NaN											0	0	0	1	0	9	43				
ANO5	203859	broad.mit.edu	37	11	22297645	22297645	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:22297645G>C	uc001mqi.2	+	21	2737	c.2420G>C	c.(2419-2421)AGA>ACA	p.R807T	ANO5_uc001mqj.2_Missense_Mutation_p.R806T	NM_213599	NP_998764	Q75V66	ANO5_HUMAN	anoctamin 5 isoform a	807	Extracellular (Potential).					chloride channel complex|endoplasmic reticulum membrane	chloride channel activity			central_nervous_system(3)|ovary(1)	4						TTCAGGTACAGAGATTACAGA	0.323		NaN											0	0	0	1	0	11	29				
MUC15	143662	broad.mit.edu	37	11	26586972	26586972	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:26586972G>C	uc001mqx.2	-	2	700	c.434C>G	c.(433-435)TCT>TGT	p.S145C	ANO3_uc010rdr.1_Intron|ANO3_uc001mqt.3_Intron|ANO3_uc010rds.1_Intron|ANO3_uc010rdt.1_Intron|MUC15_uc001mqw.2_Missense_Mutation_p.S172C|MUC15_uc001mqy.2_Missense_Mutation_p.S172C	NM_145650	NP_663625	Q8N387	MUC15_HUMAN	mucin 15 isoform b	145	Extracellular (Potential).					extracellular region|integral to membrane|plasma membrane				ovary(1)|central_nervous_system(1)|pancreas(1)	3						GTTTTCTGAAGACAGAGCAGG	0.428		NaN											0	0	0	1	0	35	122				
ELP4	26610	broad.mit.edu	37	11	31648699	31648699	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:31648699G>A	uc001mtb.2	+	6	731	c.696G>A	c.(694-696)CAG>CAA	p.Q232Q	ELP4_uc001mta.1_RNA|ELP4_uc001mtc.2_Silent_p.Q232Q|ELP4_uc010rdz.1_Silent_p.Q233Q	NM_019040	NP_061913	Q96EB1	ELP4_HUMAN	elongation protein 4 homolog	232					histone acetylation|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|DNA-directed RNA polymerase II, holoenzyme|Elongator holoenzyme complex|transcription elongation factor complex	phosphorylase kinase regulator activity|protein binding			upper_aerodigestive_tract(1)|ovary(1)|prostate(1)	3	Lung SC(675;0.225)					AGTTTATCCAGAACATCATTT	0.318		NaN											0	0	0	1	0	14	44				
FBXO3	26273	broad.mit.edu	37	11	33772145	33772145	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:33772145G>A	uc001muz.2	-	8	900	c.872C>T	c.(871-873)TCG>TTG	p.S291L	FBXO3_uc010rej.1_5'UTR|FBXO3_uc001muy.2_Missense_Mutation_p.S178L|FBXO3_uc009ykb.2_RNA|FBXO3_uc001mva.1_Missense_Mutation_p.S291L|FBXO3_uc001mvb.1_Missense_Mutation_p.S286L|FBXO3_uc010rek.1_RNA	NM_012175	NP_036307	Q9UK99	FBX3_HUMAN	F-box only protein 3 isoform 1	291	ApaG.				proteolysis	nucleus	ubiquitin-protein ligase activity			pancreas(1)	1		Lung NSC(402;0.0804)		BRCA - Breast invasive adenocarcinoma(625;0.00315)|Lung(977;0.00488)|LUSC - Lung squamous cell carcinoma(625;0.008)		TGGCAGAAACGATGTGGAAAC	0.373		NaN											0	0	0	1	0	10	34				
RAG2	5897	broad.mit.edu	37	11	36614675	36614675	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:36614675C>G	uc001mwv.3	-	2	1232	c.1044G>C	c.(1042-1044)TTG>TTC	p.L348F	RAG1_uc001mwt.2_RNA|C11orf74_uc010rfd.1_5'Flank|C11orf74_uc001mww.1_5'Flank|C11orf74_uc001mwx.1_5'Flank|C11orf74_uc001mwy.1_5'Flank|C11orf74_uc001mwz.1_5'Flank|C11orf74_uc010rfe.1_5'Flank	NM_000536	NP_000527	P55895	RAG2_HUMAN	recombination activating gene 2	348					chromatin modification|pre-B cell allelic exclusion|somatic diversification of immunoglobulins|T cell differentiation in thymus|V(D)J recombination	nucleus	chromatin binding|DNA binding|endonuclease activity|methylated histone residue binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-4,5-bisphosphate binding|zinc ion binding			skin(3)|ovary(1)|pancreas(1)	5	all_lung(20;0.226)	all_hematologic(20;0.00756)				CAGCACATTTCAACATATAGA	0.383		NaN							Familial_Hemophagocytic_Lymphohistiocytosis				0	0	0	1	0	32	93				
AMBRA1	55626	broad.mit.edu	37	11	46419000	46419000	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:46419000C>T	uc010rgu.1	-	18	4257	c.3897G>A	c.(3895-3897)TAG>TAA	p.*1299*	AMBRA1_uc010rgt.1_3'UTR|AMBRA1_uc009ylc.1_Silent_p.*1270*|AMBRA1_uc001ncu.1_Silent_p.*1209*|AMBRA1_uc001ncv.2_Silent_p.*1302*|AMBRA1_uc001ncw.2_Silent_p.*1180*|AMBRA1_uc001ncx.2_Silent_p.*1239*	NM_017749	NP_060219	Q9C0C7	AMRA1_HUMAN	activating molecule in beclin-1-regulated	1299					autophagy|cell differentiation|nervous system development	autophagic vacuole|cytoplasmic vesicle				large_intestine(1)|ovary(1)|central_nervous_system(1)	3				GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)		ACGTTTGTCTCTACCTGTTCC	0.592		NaN											0	0	0	1	0	31	95				
CKAP5	9793	broad.mit.edu	37	11	46801788	46801788	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:46801788C>T	uc001ndi.1	-	20	2499	c.2389G>A	c.(2389-2391)GAG>AAG	p.E797K	CKAP5_uc009ylg.1_Missense_Mutation_p.E683K|CKAP5_uc001ndj.1_Missense_Mutation_p.E797K	NM_001008938	NP_001008938	Q14008	CKAP5_HUMAN	colonic and hepatic tumor over-expressed protein	797					cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|G2/M transition of mitotic cell cycle|mitotic prometaphase|RNA transport|spindle organization	centrosome|cytosol	protein binding|protein binding			ovary(1)|skin(1)	2						GCAGGCTTCTCATCCTCAAAG	0.443		NaN											0	0	0	1	0	12	55				
LRP4	4038	broad.mit.edu	37	11	46907941	46907941	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:46907941C>T	uc001ndn.3	-	17	2505	c.2359G>A	c.(2359-2361)GTG>ATG	p.V787M		NM_002334	NP_002325	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein	787	Extracellular (Potential).|LDL-receptor class B 6.				endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity			skin(2)|upper_aerodigestive_tract(1)|ovary(1)	4				Lung(87;0.159)		GTCCAGTACACGTGGTCATCC	0.577		NaN											0	0	0	1	0	7	19				
C11orf49	79096	broad.mit.edu	37	11	47073976	47073976	+	Nonsense_Mutation	SNP	C	C	T	rs14051		TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:47073976C>T	uc001ndp.2	+	3	293	c.187C>T	c.(187-189)CGA>TGA	p.R63*	C11orf49_uc001nds.2_Nonsense_Mutation_p.R63*|C11orf49_uc001ndq.2_Nonsense_Mutation_p.R63*|C11orf49_uc001ndr.2_Nonsense_Mutation_p.R63*|C11orf49_uc010rgx.1_5'UTR|C11orf49_uc010rgy.1_Nonsense_Mutation_p.R54*|C11orf49_uc010rgz.1_Intron	NM_024113	NP_077018	Q9H6J7	CK049_HUMAN	hypothetical protein LOC79096 isoform 3	63											0						CATTCTCTTTCGAGAATTCAG	0.453		NaN											0	0	0	1	0	50	134				
DDB2	1643	broad.mit.edu	37	11	47259519	47259519	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:47259519G>A	uc001neb.2	+	8	1350	c.1155G>A	c.(1153-1155)CAG>CAA	p.Q385Q	DDB2_uc001nec.2_RNA|DDB2_uc009yli.1_Silent_p.Q321Q|DDB2_uc001ned.2_RNA|DDB2_uc001nee.2_Silent_p.Q196Q|DDB2_uc001nef.2_Silent_p.Q182Q|DDB2_uc001neg.2_Silent_p.Q244Q|DDB2_uc001neh.2_RNA	NM_000107	NP_000098	Q92466	DDB2_HUMAN	damage-specific DNA binding protein 2	385					nucleotide-excision repair, DNA damage removal|protein autoubiquitination|protein polyubiquitination|response to UV	nucleoplasm|protein complex	damaged DNA binding|protein binding			kidney(2)|ovary(1)	3						TGATGTGTCAGCTCTATGACC	0.463		NaN	Mis|N			skin basal cell|skin squamous cell|melanoma		Direct_reversal_of_damage|NER	Xeroderma_Pigmentosum				0	0	0	1	0	18	70				
DDB2	1643	broad.mit.edu	37	11	47259526	47259526	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:47259526G>A	uc001neb.2	+	8	1357	c.1162G>A	c.(1162-1164)GAC>AAC	p.D388N	DDB2_uc001nec.2_RNA|DDB2_uc009yli.1_Missense_Mutation_p.D324N|DDB2_uc001ned.2_RNA|DDB2_uc001nee.2_Missense_Mutation_p.D199N|DDB2_uc001nef.2_Missense_Mutation_p.D185N|DDB2_uc001neg.2_Missense_Mutation_p.D247N|DDB2_uc001neh.2_RNA	NM_000107	NP_000098	Q92466	DDB2_HUMAN	damage-specific DNA binding protein 2	388					nucleotide-excision repair, DNA damage removal|protein autoubiquitination|protein polyubiquitination|response to UV	nucleoplasm|protein complex	damaged DNA binding|protein binding			kidney(2)|ovary(1)	3						TCAGCTCTATGACCCAGAATC	0.463		NaN	Mis|N			skin basal cell|skin squamous cell|melanoma		Direct_reversal_of_damage|NER	Xeroderma_Pigmentosum				0	0	0	1	0	17	63				
MYBPC3	4607	broad.mit.edu	37	11	47372904	47372904	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:47372904C>T	uc001nfa.3	-	2	233	c.178G>A	c.(178-180)GAG>AAG	p.E60K		NM_000256	NP_000247	Q14896	MYPC3_HUMAN	myosin binding protein C, cardiac	60					cardiac muscle contraction|cell adhesion|muscle filament sliding|regulation of muscle filament sliding|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis	C zone|cytosol|striated muscle myosin thick filament	actin binding|ATPase activator activity|metal ion binding|myosin heavy chain binding|structural constituent of muscle|titin binding			ovary(2)|central_nervous_system(1)	3				Lung(87;0.176)		CGTGTGCCCTCTGTGGCCAGG	0.632		NaN											0	0	0	1	0	3	21				
PTPRJ	5795	broad.mit.edu	37	11	48161324	48161324	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:48161324C>T	uc001ngp.3	+	11	2794	c.2439C>T	c.(2437-2439)ATC>ATT	p.I813I	PTPRJ_uc010rhr.1_Silent_p.I258I	NM_002843	NP_002834	Q12913	PTPRJ_HUMAN	protein tyrosine phosphatase, receptor type, J	813	Extracellular (Potential).				contact inhibition|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of T cell receptor signaling pathway|negative regulation of vascular permeability|platelet-derived growth factor receptor signaling pathway|positive chemotaxis|positive regulation of focal adhesion assembly|positive regulation of protein kinase B signaling cascade|positive regulation of survival gene product expression	cell surface|cell-cell junction|immunological synapse|integral to plasma membrane|ruffle membrane	beta-catenin binding|delta-catenin binding|gamma-catenin binding|mitogen-activated protein kinase binding|platelet-derived growth factor receptor binding|protein tyrosine phosphatase activity			breast(3)|kidney(3)|ovary(1)|skin(1)	8						CTACTGGCATCACAGGTGGGC	0.542		NaN											0	0	0	1	0	10	27				
TRIM48	79097	broad.mit.edu	37	11	55032749	55032749	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:55032749C>T	uc010rid.1	+	2	504	c.418C>T	c.(418-420)CAC>TAC	p.H140Y		NM_024114	NP_077019	Q8IWZ4	TRI48_HUMAN	tripartite motif-containing 48	124	B box-type.					intracellular	zinc ion binding				0						GCACCGGTATCACAGACACTG	0.507		NaN											0	0	0	1	0	25	34				
OR4C15	81309	broad.mit.edu	37	11	55321997	55321997	+	Missense_Mutation	SNP	A	A	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:55321997A>T	uc010rig.1	+	1	215	c.215A>T	c.(214-216)AAT>ATT	p.N72I		NM_001001920	NP_001001920	Q8NGM1	OR4CF_HUMAN	olfactory receptor, family 4, subfamily C,	18	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2						CTTTCACAGAATCCAAATGTT	0.398		NaN								HNSCC(20;0.049)			0	0	0	1	0	35	96				
OR4C16	219428	broad.mit.edu	37	11	55340229	55340229	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:55340229A>C	uc010rih.1	+	1	626	c.626A>C	c.(625-627)TAT>TCT	p.Y209S		NM_001004701	NP_001004701	Q8NGL9	OR4CG_HUMAN	olfactory receptor, family 4, subfamily C,	209	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2		all_epithelial(135;0.0748)				GCAGTGAGTTATGTCATGCTA	0.433		NaN											0	0	0	1	0	17	45				
OR8I2	120586	broad.mit.edu	37	11	55861684	55861684	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:55861684C>G	uc010rix.1	+	1	901	c.901C>G	c.(901-903)CTG>GTG	p.L301V		NM_001003750	NP_001003750	Q8N0Y5	OR8I2_HUMAN	olfactory receptor, family 8, subfamily I,	301	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)	1	Esophageal squamous(21;0.00693)					AAATGCTCTTCTGAGAGTCAT	0.388		NaN											0	0	0	1	0	7	21				
OR8H3	390152	broad.mit.edu	37	11	55890712	55890712	+	Silent	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:55890712C>G	uc001nii.1	+	1	864	c.864C>G	c.(862-864)CTC>CTG	p.L288L		NM_001005201	NP_001005201	Q8N146	OR8H3_HUMAN	olfactory receptor, family 8, subfamily H,	288	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2	Esophageal squamous(21;0.00693)					TGAATCCACTCATTTATAGTC	0.363		NaN											0	0	0	1	0	17	54				
OR8K3	219473	broad.mit.edu	37	11	56086160	56086160	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:56086160C>T	uc010rjf.1	+	1	378	c.378C>T	c.(376-378)ATC>ATT	p.I126I		NM_001005202	NP_001005202	Q8NH51	OR8K3_HUMAN	olfactory receptor, family 8, subfamily K,	126	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|large_intestine(1)|central_nervous_system(1)	4	Esophageal squamous(21;0.00448)					ATGTGGCCATCTGTAACCCTC	0.413		NaN											0	0	0	1	0	20	62				
APLNR	187	broad.mit.edu	37	11	57004286	57004286	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:57004286C>T	uc001njo.2	-	1	642	c.193G>A	c.(193-195)GAT>AAT	p.D65N	APLNR_uc001njn.3_RNA	NM_005161	NP_005152	P35414	APJ_HUMAN	apelin receptor	65	Cytoplasmic (Potential).					integral to plasma membrane	G-protein coupled receptor activity			lung(5)|ovary(1)	6						ATGAAGATATCAGCTGAGCGC	0.612		NaN											0	0	0	1	0	20	59				
SMTNL1	219537	broad.mit.edu	37	11	57310770	57310770	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:57310770G>A	uc009ymh.1	+	2	709	c.709G>A	c.(709-711)GAT>AAT	p.D237N		NM_001105565	NP_001099035	E9PPJ3	E9PPJ3_HUMAN	smoothelin-like 1	219										ovary(1)	1						CAAGGAGCCCGATGGGAAAGA	0.557		NaN											0	0	0	1	0	23	45				
SMTNL1	219537	broad.mit.edu	37	11	57310839	57310839	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:57310839G>A	uc009ymh.1	+	2	778	c.778G>A	c.(778-780)GAG>AAG	p.E260K		NM_001105565	NP_001099035	E9PPJ3	E9PPJ3_HUMAN	smoothelin-like 1	242										ovary(1)	1						GGAGGATGCAGAGGAGGCAGT	0.567		NaN											0	0	0	1	0	13	55				
SERPING1	710	broad.mit.edu	37	11	57373936	57373936	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:57373936C>T	uc001nkp.1	+	6	1136	c.945C>T	c.(943-945)TTC>TTT	p.F315F	SERPING1_uc001nkq.1_Silent_p.F315F|SERPING1_uc010rju.1_Silent_p.F263F|SERPING1_uc010rjv.1_Silent_p.F320F|SERPING1_uc001nkr.1_Silent_p.F315F|SERPING1_uc009ymi.1_Silent_p.F324F|SERPING1_uc009ymj.1_Silent_p.F315F|SERPING1_uc001nks.1_Silent_p.F6F	NM_000062	NP_000053	P05155	IC1_HUMAN	serpin peptidase inhibitor, clade G, member 1	315				HFKNSVI -> QLQKLSY (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						CCTTTCACTTCAAAAACTCAG	0.423		NaN							Hereditary_Angioedema				0	0	0	1	0	29	97				
GLYAT	10249	broad.mit.edu	37	11	58477493	58477493	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:58477493C>T	uc001nnb.2	-	6	792	c.637G>A	c.(637-639)GAG>AAG	p.E213K		NM_201648	NP_964011	Q6IB77	GLYAT_HUMAN	glycine-N-acyltransferase isoform a	213					acyl-CoA metabolic process|response to toxin|xenobiotic metabolic process	mitochondrial matrix	glycine N-acyltransferase activity|glycine N-benzoyltransferase activity				0		Breast(21;0.0044)|all_epithelial(135;0.0157)			Glycine(DB00145)	GGGGTCCCCTCAGGCCCCAGG	0.537		NaN											0	0	0	1	0	19	82				
TMEM132A	54972	broad.mit.edu	37	11	60699265	60699265	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:60699265C>G	uc001nqj.2	+	6	1314	c.1121C>G	c.(1120-1122)CCA>CGA	p.P374R	TMEM132A_uc001nqi.2_Missense_Mutation_p.P375R|TMEM132A_uc001nqk.2_Missense_Mutation_p.P387R|TMEM132A_uc001nql.1_Missense_Mutation_p.P387R|TMEM132A_uc001nqm.2_5'Flank	NM_178031	NP_821174	Q24JP5	T132A_HUMAN	transmembrane protein 132A isoform b	374	Extracellular (Potential).					endoplasmic reticulum membrane|Golgi membrane|integral to membrane				skin(1)	1						CTGGAGTACCCAGGCCAGGCC	0.577		NaN											0	0	0	1	0	36	114				
VWCE	220001	broad.mit.edu	37	11	61058812	61058812	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:61058812G>A	uc001nra.2	-	3	498	c.219C>T	c.(217-219)TTC>TTT	p.F73F	VWCE_uc001nrb.2_RNA	NM_152718	NP_689931	Q96DN2	VWCE_HUMAN	von Willebrand factor C and EGF domains	73	EGF-like 1.					extracellular region	calcium ion binding			ovary(1)	1						TCCCACAGCCGAAGGAGCAGA	0.642		NaN											0	0	0	1	0	3	26				
RAB3IL1	5866	broad.mit.edu	37	11	61672247	61672247	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:61672247G>A	uc001nso.2	-	6	923	c.765C>T	c.(763-765)TGC>TGT	p.C255C	RAB3IL1_uc001nsp.2_Silent_p.C229C	NM_013401	NP_037533	Q8TBN0	R3GEF_HUMAN	RAB3A interacting protein (rabin3)-like 1	255							protein binding			skin(2)|central_nervous_system(1)	3						TGAAGTCCAGGCAGGGGCCCA	0.662		NaN											0	0	0	1	0	3	23				
AHNAK	79026	broad.mit.edu	37	11	62293224	62293224	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:62293224C>G	uc001ntl.2	-	5	8965	c.8665G>C	c.(8665-8667)GAC>CAC	p.D2889H	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	AHNAK nucleoprotein isoform 1	2889					nervous system development	nucleus	protein binding			ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1)	19		Melanoma(852;0.155)				AGGTGCCAGTCTGGACCCTGA	0.517		NaN											0	0	0	1	0	82	258				
AHNAK	79026	broad.mit.edu	37	11	62293417	62293417	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:62293417C>G	uc001ntl.2	-	5	8772	c.8472G>C	c.(8470-8472)AAG>AAC	p.K2824N	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	AHNAK nucleoprotein isoform 1	2824					nervous system development	nucleus	protein binding			ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1)	19		Melanoma(852;0.155)				TCTCTGGCATCTTAAACTTTG	0.428		NaN											0	0	0	1	0	37	128				
AHNAK	79026	broad.mit.edu	37	11	62294428	62294428	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:62294428C>T	uc001ntl.2	-	5	7761	c.7461G>A	c.(7459-7461)ATG>ATA	p.M2487I	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	AHNAK nucleoprotein isoform 1	2487					nervous system development	nucleus	protein binding	p.M2487V(1)		ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1)	19		Melanoma(852;0.155)				CCCTGATGTTCATATCTGGTA	0.478		NaN											0	0	0	1	0	75	165				
GANAB	23193	broad.mit.edu	37	11	62397394	62397394	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:62397394C>T	uc001nub.2	-	14	1662	c.1629G>A	c.(1627-1629)ATG>ATA	p.M543I	GANAB_uc001ntz.2_5'Flank|GANAB_uc001nua.2_Missense_Mutation_p.M565I|GANAB_uc001nuc.2_Missense_Mutation_p.M446I|GANAB_uc010rma.1_Missense_Mutation_p.M451I|GANAB_uc010rmb.1_Missense_Mutation_p.M429I	NM_198334	NP_938148	Q14697	GANAB_HUMAN	neutral alpha-glucosidase AB isoform 2	543					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|Golgi apparatus|melanosome	carbohydrate binding|glucan 1,3-alpha-glucosidase activity|protein binding			ovary(3)|central_nervous_system(1)|skin(1)	5						ATGGTTCGTTCATGTCATTCC	0.537		NaN											0	0	0	1	0	20	85				
INTS5	80789	broad.mit.edu	37	11	62416061	62416061	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:62416061G>A	uc001nud.2	-	2	1544	c.1491C>T	c.(1489-1491)CTC>CTT	p.L497L	GANAB_uc001nua.2_5'Flank|GANAB_uc001nub.2_5'Flank|GANAB_uc001nuc.2_5'Flank|GANAB_uc010rma.1_5'Flank|GANAB_uc010rmb.1_5'Flank	NM_030628	NP_085131	Q6P9B9	INT5_HUMAN	integrator complex subunit 5	497					snRNA processing	integral to membrane|integrator complex	protein binding			ovary(2)	2						GGTGCTGCCAGAGGAAGCGCT	0.602		NaN											0	0	0	1	0	52	167				
C11orf83	790955	broad.mit.edu	37	11	62439326	62439326	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:62439326G>A	uc001nui.3	+	1	201	c.109G>A	c.(109-111)GAA>AAA	p.E37K	C11orf48_uc001nue.2_5'Flank|C11orf48_uc001nuf.2_5'Flank|C11orf48_uc010rmd.1_5'Flank	NM_001085372	NP_001078841	Q6UW78	CK083_HUMAN	hypothetical protein LOC790955 precursor	37						extracellular region					0						GCGGAAGCAGGAAATGCTAAA	0.632		NaN											0	0	0	1	0	21	62				
HNRNPUL2	221092	broad.mit.edu	37	11	62483065	62483065	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:62483065G>A	uc001nuw.2	-	13	2263	c.2070C>T	c.(2068-2070)TTC>TTT	p.F690F	HNRNPUL2_uc001nuu.1_RNA	NM_001079559	NP_001073027	Q1KMD3	HNRL2_HUMAN	heterogeneous nuclear ribonucleoprotein U-like	690	Tyr-rich.				cell killing	nucleus	ATP binding|nucleic acid binding				0						ATCGATCATAGAAATTACGGT	0.423		NaN											0	0	0	1	0	27	95				
NXF1	10482	broad.mit.edu	37	11	62563952	62563952	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:62563952G>A	uc001nvf.1	-	14	1402	c.1266C>T	c.(1264-1266)TTC>TTT	p.F422F	NXF1_uc001nvg.1_3'UTR|NXF1_uc009yog.1_Silent_p.F465F	NM_006362	NP_006353	Q9UBU9	NXF1_HUMAN	nuclear RNA export factor 1 isoform 1	422	NTF2.				gene expression|interspecies interaction between organisms	cytosol|nuclear speck	nucleotide binding|protein binding			skin(3)	3						TCTGAGGAATGAAAGGAATGC	0.547		NaN											0	0	0	1	0	31	135				
SLC22A25	387601	broad.mit.edu	37	11	62985102	62985102	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:62985102G>T	uc001nwr.1	-	3	612	c.612C>A	c.(610-612)TTC>TTA	p.F204L	SLC22A10_uc010rmo.1_Intron|SLC22A25_uc009yoq.1_RNA|SLC22A25_uc001nws.1_Intron|SLC22A25_uc001nwt.1_Missense_Mutation_p.F204L	NM_199352	NP_955384	Q6T423	S22AP_HUMAN	putative UST1-like organic anion transporter	204	Extracellular (Potential).				transmembrane transport	integral to membrane				ovary(3)|skin(1)	4						CCCCAGCCAAGAAGCGCAGGG	0.473		NaN											1	0	1.58986e-06	1	1.63725e-06	10	46				
RTN3	10313	broad.mit.edu	37	11	63520033	63520033	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:63520033G>A	uc001nxq.2	+	5	2980	c.2793G>A	c.(2791-2793)ATG>ATA	p.M931I	RTN3_uc001nxo.2_Missense_Mutation_p.M135I|RTN3_uc001nxm.2_Missense_Mutation_p.M154I|RTN3_uc001nxn.2_Missense_Mutation_p.M912I|RTN3_uc001nxp.2_Missense_Mutation_p.M135I|RTN3_uc009yov.2_Missense_Mutation_p.M819I|RTN3_uc010rmt.1_Intron|RTN3_uc010rmu.1_Intron	NM_201428	NP_958831	O95197	RTN3_HUMAN	reticulon 3 isoform b	931	Reticulon.				apoptosis|endoplasmic reticulum tubular network organization|interspecies interaction between organisms|response to stress|vesicle-mediated transport	endoplasmic reticulum membrane|extracellular space|Golgi membrane|integral to membrane				ovary(1)	1						ATAATTACATGAATGCTGCCA	0.423		NaN											0	0	0	1	0	39	117				
FERMT3	83706	broad.mit.edu	37	11	63978565	63978565	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:63978565G>A	uc001nyl.2	+	4	585	c.436G>A	c.(436-438)GAG>AAG	p.E146K	FERMT3_uc001nym.2_Missense_Mutation_p.E146K	NM_178443	NP_848537	Q86UX7	URP2_HUMAN	fermitin family homolog 3 long form	146					integrin activation|leukocyte cell-cell adhesion|platelet aggregation|regulation of cell-cell adhesion mediated by integrin	cell junction|cell projection|podosome	integrin binding			ovary(1)	1						CCGGGCTCCTGagaagaagga	0.552		NaN											0	0	0	1	0	5	12				
PYGM	5837	broad.mit.edu	37	11	64514790	64514790	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:64514790G>A	uc001oax.3	-	18	3035	c.2218C>T	c.(2218-2220)CGG>TGG	p.R740W	RASGRP2_uc009ypv.2_5'Flank|RASGRP2_uc009ypw.2_5'Flank|RASGRP2_uc001oaw.1_5'Flank|PYGM_uc001oay.3_Missense_Mutation_p.R652W	NM_005609	NP_005600	P11217	PYGM_HUMAN	muscle glycogen phosphorylase isoform 1	740					glucose metabolic process|glycogen catabolic process	cytosol	glycogen phosphorylase activity|protein binding			ovary(2)	2					Pyridoxal Phosphate(DB00114)	ATGACCTGCCGAAGCTCAGGA	0.567		NaN											0	0	0	1	0	30	63				
NAALADL1	10004	broad.mit.edu	37	11	64821987	64821987	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:64821987G>A	uc001ocn.2	-	5	843	c.827C>T	c.(826-828)TCC>TTC	p.S276F	NAALADL1_uc010rnw.1_5'UTR	NM_005468	NP_005459	Q9UQQ1	NALDL_HUMAN	N-acetylated alpha-linked acidic	276	NAALADase.|Extracellular (Potential).				proteolysis	apical plasma membrane|integral to membrane	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity				0						GGGAAATCCGGAGACATTGGC	0.597		NaN											0	0	0	1	0	10	35				
SLC22A20	440044	broad.mit.edu	37	11	64985056	64985056	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:64985056C>T	uc010roc.1	+	3	533	c.530C>T	c.(529-531)TCG>TTG	p.S177L	SLC22A20_uc010rob.1_Missense_Mutation_p.S177L	NM_001004326	NP_001004326	A6NK97	S22AK_HUMAN	solute carrier family 22, member 20	177	Helical; (Potential).				ion transport	integral to membrane	transmembrane transporter activity			central_nervous_system(1)	1						CTGGCAGCTTCGGGGGCCGCC	0.602		NaN											0	0	0	1	0	13	27				
SNX32	254122	broad.mit.edu	37	11	65618826	65618826	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:65618826C>T	uc001ofr.2	+	8	864	c.737C>T	c.(736-738)TCA>TTA	p.S246L		NM_152760	NP_689973	Q86XE0	SNX32_HUMAN	sorting nexin 6B	246					cell communication|protein transport		phosphatidylinositol binding				0				READ - Rectum adenocarcinoma(159;0.171)		ATCCCTATCTCAGCTGCGCTG	0.562		NaN									OREG0021087	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	1	0	14	40				
CATSPER1	117144	broad.mit.edu	37	11	65793777	65793777	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:65793777G>C	uc001ogt.2	-	1	212	c.74C>G	c.(73-75)TCT>TGT	p.S25C		NM_053054	NP_444282	Q8NEC5	CTSR1_HUMAN	sperm-associated cation channel 1	25	Cytoplasmic (Potential).				cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	protein binding			ovary(2)	2						TGATGAGTGAGAGCGAAAGAA	0.542		NaN											0	0	0	1	0	33	132				
LRFN4	78999	broad.mit.edu	37	11	66627266	66627266	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:66627266C>G	uc001ojr.2	+	2	1848	c.1508C>G	c.(1507-1509)TCG>TGG	p.S503W	PC_uc001ojo.1_Intron|PC_uc001ojp.1_Intron|PC_uc001ojn.1_Intron|LRFN4_uc001ojs.2_Intron	NM_024036	NP_076941	Q6PJG9	LRFN4_HUMAN	leucine rich repeat and fibronectin type III	503	Extracellular (Potential).					integral to membrane					0						CTGCCGGCCTCGCCCCTGTGC	0.701		NaN											0	0	0	1	0	4	26				
NDUFV1	4723	broad.mit.edu	37	11	67379873	67379873	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:67379873G>A	uc001omj.2	+	10	1492	c.1339G>A	c.(1339-1341)GAG>AAG	p.E447K	NDUFV1_uc010rpv.1_Missense_Mutation_p.E346K|NDUFV1_uc001oml.2_Missense_Mutation_p.E440K|NDUFV1_uc001omk.3_Missense_Mutation_p.E438K|NDUFV1_uc010rpw.1_Missense_Mutation_p.E156K	NM_007103	NP_009034	P49821	NDUV1_HUMAN	NADH dehydrogenase ubiquinone flavoprotein 1	447					mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial respiratory chain complex I	4 iron, 4 sulfur cluster binding|FMN binding|metal ion binding|NAD binding|NADH dehydrogenase (ubiquinone) activity			skin(1)	1					NADH(DB00157)	GCCGGAGCTCGAGGAGCGGAT	0.632		NaN											0	0	0	1	0	12	47				
TBX10	347853	broad.mit.edu	37	11	67402490	67402490	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:67402490C>T	uc001omp.2	-	2	340	c.252G>A	c.(250-252)GAG>GAA	p.E84E		NM_005995	NP_005986	O75333	TBX10_HUMAN	T-box 10	84	T-box.				anatomical structure morphogenesis|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity				0						TGACGATCATCTCAGTGCCCA	0.647		NaN											0	0	0	1	0	26	45				
PDE2A	5138	broad.mit.edu	37	11	72294523	72294523	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:72294523G>A	uc010rrc.1	-	20	1930	c.1687C>T	c.(1687-1689)CGC>TGC	p.R563C	PDE2A_uc001oso.2_Missense_Mutation_p.R542C|PDE2A_uc010rra.1_Missense_Mutation_p.R556C|PDE2A_uc001osn.2_Missense_Mutation_p.R307C|PDE2A_uc010rrb.1_Missense_Mutation_p.R554C|PDE2A_uc010rrd.1_Missense_Mutation_p.R448C	NM_002599	NP_002590	O00408	PDE2A_HUMAN	phosphodiesterase 2A isoform 1	563					platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity|metal ion binding			ovary(2)|breast(1)|skin(1)	4			BRCA - Breast invasive adenocarcinoma(5;3.55e-05)		Sildenafil(DB00203)|Sulindac(DB00605)	AGGTGGCTGCGATACTGAGCC	0.537		NaN											0	0	0	1	0	31	80				
ARAP1	116985	broad.mit.edu	37	11	72418254	72418254	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:72418254G>C	uc001osu.2	-	12	1878	c.1689C>G	c.(1687-1689)ATC>ATG	p.I563M	ARAP1_uc001osv.2_Missense_Mutation_p.I563M|ARAP1_uc001osr.2_Missense_Mutation_p.I323M|ARAP1_uc001oss.2_Missense_Mutation_p.I318M|ARAP1_uc009yth.2_Missense_Mutation_p.I318M|ARAP1_uc010rre.1_Missense_Mutation_p.I318M	NM_001040118	NP_001035207	Q96P48	ARAP1_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH	563	C4-type.|Arf-GAP.				actin filament reorganization involved in cell cycle|negative regulation of stress fiber assembly|positive regulation of Cdc42 GTPase activity|positive regulation of filopodium assembly|regulation of ARF GTPase activity|regulation of cell shape|regulation of cellular component movement|small GTPase mediated signal transduction	cytosol|Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|Rho GTPase activator activity|zinc ion binding			skin(1)	1						CACAGAGGTTGATGGAGGCCC	0.647		NaN											0	0	0	1	0	5	22				
PRKRIR	5612	broad.mit.edu	37	11	76063335	76063335	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:76063335G>C	uc001oxh.1	-	5	859	c.859C>G	c.(859-861)CAT>GAT	p.H287D	PRKRIR_uc010rrz.1_Missense_Mutation_p.H112D	NM_004705	NP_004696	O43422	P52K_HUMAN	protein-kinase, interferon-inducible double	287					negative regulation of cell proliferation|response to stress|signal transduction		DNA binding|metal ion binding|protein dimerization activity			ovary(2)|pancreas(1)	3						CTTAGGTTATGAGATTCATCA	0.423		NaN											0	0	0	1	0	7	34				
PRKRIR	5612	broad.mit.edu	37	11	76063340	76063340	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:76063340T>C	uc001oxh.1	-	5	854	c.854A>G	c.(853-855)GAA>GGA	p.E285G	PRKRIR_uc010rrz.1_Missense_Mutation_p.E110G	NM_004705	NP_004696	O43422	P52K_HUMAN	protein-kinase, interferon-inducible double	285					negative regulation of cell proliferation|response to stress|signal transduction		DNA binding|metal ion binding|protein dimerization activity			ovary(2)|pancreas(1)	3						GTTATGAGATTCATCAACAAA	0.428		NaN											0	0	0	1	0	6	32				
PRKRIR	5612	broad.mit.edu	37	11	76063502	76063502	+	Nonsense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:76063502G>C	uc001oxh.1	-	5	692	c.692C>G	c.(691-693)TCA>TGA	p.S231*	PRKRIR_uc010rrz.1_Nonsense_Mutation_p.S56*	NM_004705	NP_004696	O43422	P52K_HUMAN	protein-kinase, interferon-inducible double	231					negative regulation of cell proliferation|response to stress|signal transduction		DNA binding|metal ion binding|protein dimerization activity			ovary(2)|pancreas(1)	3						CTGTGTTTTTGAACAAAACAA	0.438		NaN											0	0	0	1	0	11	32				
NARS2	79731	broad.mit.edu	37	11	78177018	78177018	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:78177018C>T	uc001ozi.2	-	11	1444	c.1068G>A	c.(1066-1068)GTG>GTA	p.V356V	NARS2_uc010rsq.1_Silent_p.V129V	NM_024678	NP_078954	Q96I59	SYNM_HUMAN	asparaginyl-tRNA synthetase 2, mitochondrial	356					asparaginyl-tRNA aminoacylation	mitochondrial matrix	asparagine-tRNA ligase activity|ATP binding|nucleic acid binding			ovary(2)	2	all_cancers(14;2.63e-17)|all_epithelial(13;1.85e-19)				L-Asparagine(DB00174)	CACAGTGCTTCACCAGGTACT	0.418		NaN											0	0	0	1	0	19	47				
C11orf82	220042	broad.mit.edu	37	11	82644076	82644076	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:82644076G>A	uc001ozt.2	+	6	1940	c.1696G>A	c.(1696-1698)GAG>AAG	p.E566K	C11orf82_uc010rsr.1_Missense_Mutation_p.E265K|C11orf82_uc010rss.1_Missense_Mutation_p.E265K|C11orf82_uc009yvd.2_Intron	NM_145018	NP_659455	Q8IXT1	NOXIN_HUMAN	nitric oxide-inducible gene protein	566					apoptosis|cell cycle arrest	cytoplasm|nucleus				ovary(2)	2						ACCACACAGGGAGAGTGACCA	0.338		NaN											0	0	0	1	0	13	19				
DLG2	1740	broad.mit.edu	37	11	83173066	83173066	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:83173066C>T	uc001paj.2	-	22	2788	c.2485G>A	c.(2485-2487)GAA>AAA	p.E829K	DLG2_uc001pai.2_Missense_Mutation_p.E708K|DLG2_uc010rsy.1_Missense_Mutation_p.E778K|DLG2_uc010rsz.1_Missense_Mutation_p.E825K|DLG2_uc010rta.1_Missense_Mutation_p.E811K|DLG2_uc001pak.2_Missense_Mutation_p.E934K|DLG2_uc010rtb.1_Missense_Mutation_p.E796K|DLG2_uc010rsw.1_Missense_Mutation_p.E293K|DLG2_uc010rsx.1_Missense_Mutation_p.E306K	NM_001364	NP_001355	Q15700	DLG2_HUMAN	chapsyn-110 isoform 2	829	Guanylate kinase-like.					cell junction|postsynaptic density|postsynaptic membrane	guanylate kinase activity|protein binding|protein binding			ovary(3)|pancreas(2)|skin(1)	6		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				TCTCCAAATTCTTGTTCTAGC	0.408		NaN											0	0	0	1	0	9	35				
DLG2	1740	broad.mit.edu	37	11	83195218	83195218	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:83195218G>C	uc001paj.2	-	17	2235	c.1932C>G	c.(1930-1932)TTC>TTG	p.F644L	DLG2_uc001pai.2_Intron|DLG2_uc010rsy.1_Intron|DLG2_uc010rsz.1_Intron|DLG2_uc010rta.1_Intron|DLG2_uc001pak.2_Missense_Mutation_p.F749L|DLG2_uc010rtb.1_Missense_Mutation_p.F611L|DLG2_uc010rsw.1_Intron|DLG2_uc010rsx.1_Intron	NM_001364	NP_001355	Q15700	DLG2_HUMAN	chapsyn-110 isoform 2	644						cell junction|postsynaptic density|postsynaptic membrane	guanylate kinase activity|protein binding|protein binding			ovary(3)|pancreas(2)|skin(1)	6		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				TGTTCTTGTAGAATGGGAATT	0.393		NaN											0	0	0	1	0	20	85				
CCDC89	220388	broad.mit.edu	37	11	85396921	85396921	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:85396921C>G	uc001pau.1	-	1	400	c.253G>C	c.(253-255)GAT>CAT	p.D85H		NM_152723	NP_689936	Q8N998	CCD89_HUMAN	coiled-coil domain containing 89	85	Potential.					cytoplasm|nucleus					0		Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572)				AGGGCCTCATCTGACCTCCGC	0.592		NaN											0	0	0	1	0	22	59				
CCDC67	159989	broad.mit.edu	37	11	93118581	93118581	+	Silent	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:93118581C>G	uc001pdq.2	+	8	907	c.807C>G	c.(805-807)CTC>CTG	p.L269L	CCDC67_uc001pdo.1_Silent_p.L269L|CCDC67_uc001pdp.2_Silent_p.L269L	NM_181645	NP_857596	Q05D60	CCD67_HUMAN	coiled-coil domain containing 67	269	Potential.									ovary(1)	1		Acute lymphoblastic leukemia(157;2.35e-05)|all_hematologic(158;0.00824)				AAGCAGGTCTCTCAGAGGTAA	0.313		NaN											0	0	0	1	0	8	36				
MTMR2	8898	broad.mit.edu	37	11	95590723	95590723	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:95590723C>T	uc001pfu.2	-	7	900	c.647G>A	c.(646-648)AGA>AAA	p.R216K	MTMR2_uc001pfv.2_Missense_Mutation_p.R144K|MTMR2_uc001pfs.2_Missense_Mutation_p.R144K|MTMR2_uc001pft.2_Missense_Mutation_p.R144K|MTMR2_uc010ruj.1_Missense_Mutation_p.R199K	NM_016156	NP_057240	Q13614	MTMR2_HUMAN	myotubularin-related protein 2 isoform 1	216	Myotubularin phosphatase.					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)				TACCTGCCTTCTATACTCTAA	0.338		NaN											0	0	0	1	0	5	24				
MAML2	84441	broad.mit.edu	37	11	95826490	95826490	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:95826490C>G	uc001pfw.1	-	2	1990	c.705G>C	c.(703-705)ATG>ATC	p.M235I		NM_032427	NP_115803	Q8IZL2	MAML2_HUMAN	mastermind-like 2	235					Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity		CRTC1/MAML2(516)|CRTC3/MAML2(26)	salivary_gland(500)|lung(36)|thyroid(4)|breast(3)|skin(2)|ovary(1)	546		Acute lymphoblastic leukemia(157;2.63e-05)|all_hematologic(158;0.00837)				GTGCTTGGCTCATAGGCAAGG	0.468		NaN	T	MECT1|CRTC3	salivary gland mucoepidermoid								0	0	0	1	0	15	56				
PGR	5241	broad.mit.edu	37	11	100998975	100998975	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:100998975G>A	uc001pgh.2	-	1	1570	c.827C>T	c.(826-828)TCA>TTA	p.S276L	PGR_uc001pgi.2_Missense_Mutation_p.S276L|PGR_uc009yww.1_RNA|PGR_uc001pgj.2_RNA|PGR_uc009ywx.1_RNA|uc010rum.1_5'Flank	NM_000926	NP_000917	P06401	PRGR_HUMAN	progesterone receptor	276	Modulating, Pro-Rich.				cell-cell signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	enzyme binding|receptor binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			lung(1)|liver(1)|central_nervous_system(1)|pancreas(1)	4		Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014)		LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164)	Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Mifepristone(DB00834)|Norethindrone(DB00717)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)	CCTGGGCGCTGAGAAGCGGGA	0.731		NaN											0	0	0	1	0	7	18				
TMEM123	114908	broad.mit.edu	37	11	102272716	102272716	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:102272716G>C	uc001pha.2	-	3	800	c.379C>G	c.(379-381)CAG>GAG	p.Q127E	TMEM123_uc009yxc.2_Missense_Mutation_p.Q108E	NM_052932	NP_443164	Q8N131	PORIM_HUMAN	transmembrane protein 123 precursor	127	Thr-rich.|Extracellular (Potential).				oncosis	external side of plasma membrane|integral to membrane	receptor activity			breast(2)	2	all_cancers(8;0.00027)|all_epithelial(12;0.0021)|Lung NSC(15;0.227)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033)	Epithelial(9;0.0314)|Lung(13;0.109)|all cancers(10;0.12)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0149)		GTTGATATCTGAGATGTGTTC	0.388		NaN											0	0	0	1	0	39	100				
MMP12	4321	broad.mit.edu	37	11	102742592	102742592	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:102742592C>G	uc001phk.2	-	3	486	c.441G>C	c.(439-441)TTG>TTC	p.L147F		NM_002426	NP_002417	P39900	MMP12_HUMAN	matrix metalloproteinase 12 preproprotein	147					positive regulation of epithelial cell proliferation involved in wound healing|proteolysis|wound healing, spreading of epidermal cells	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding				0		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.014)	Acetohydroxamic Acid(DB00551)	TGCTGAATTTCAAGGGGGTAA	0.418		NaN											0	0	0	1	0	9	19				
KIAA1826	84437	broad.mit.edu	37	11	105880615	105880615	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:105880615C>T	uc001piy.2	-	3	858	c.685G>A	c.(685-687)GAA>AAA	p.E229K	KIAA1826_uc001piz.2_Missense_Mutation_p.E229K	NM_032424	NP_115800	Q8NCY6	K1826_HUMAN	hypothetical protein LOC84437	229	Potential.					nucleus				breast(1)	1		Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321)		BRCA - Breast invasive adenocarcinoma(274;5.56e-05)|Epithelial(105;0.00432)|all cancers(92;0.0309)		CGTTCCTTTTCTACCTGCAGC	0.463		NaN											0	0	0	1	0	17	85				
GUCY1A2	2977	broad.mit.edu	37	11	106888480	106888480	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:106888480G>A	uc001pjg.1	-	1	692	c.302C>T	c.(301-303)TCG>TTG	p.S101L	GUCY1A2_uc010rvo.1_Missense_Mutation_p.S101L|GUCY1A2_uc009yxn.1_Missense_Mutation_p.S101L	NM_000855	NP_000846	P33402	GCYA2_HUMAN	guanylate cyclase 1, soluble, alpha 2	101					intracellular signal transduction|platelet activation	cytoplasm	GTP binding|guanylate cyclase activity|heme binding			large_intestine(3)|lung(2)|pancreas(2)|ovary(1)	8		all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068)		BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476)		CCCGCTCACCGAGGGCGCCGT	0.662		NaN											0	0	0	1	0	6	11				
ATM	472	broad.mit.edu	37	11	108192065	108192065	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08			G	C	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:108192065G>C	uc001pkb.1	+	45	6875	c.6490G>C	c.(6490-6492)GAG>CAG	p.E2164Q	ATM_uc009yxr.1_Missense_Mutation_p.E2164Q|C11orf65_uc010rvx.1_Intron|ATM_uc001pke.1_Missense_Mutation_p.E816Q|ATM_uc001pkg.1_Missense_Mutation_p.E521Q	NM_000051	NP_000042	Q13315	ATM_HUMAN	ataxia telangiectasia mutated isoform 1	2164	FAT.		E -> K (in T-prolymphocytic leukemia).		cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding	p.E2164K(1)		haematopoietic_and_lymphoid_tissue(174)|lung(25)|breast(15)|large_intestine(9)|ovary(5)|kidney(5)|central_nervous_system(4)|upper_aerodigestive_tract(1)|stomach(1)|NS(1)	240		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		GCGCAGCCTTGAGTCTGTGTA	0.413		NaN	D|Mis|N|F|S		T-PLL	leukemia|lymphoma|medulloblastoma|glioma		Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents	Ataxia_Telangiectasia	TSP Lung(14;0.12)			0	0	0	1	0	29	119		Valid		
ATM	472	broad.mit.edu	37	11	108196791	108196791	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:108196791G>T	uc001pkb.1	+	47	7199	c.6814G>T	c.(6814-6816)GAA>TAA	p.E2272*	ATM_uc009yxr.1_Nonsense_Mutation_p.E2272*|C11orf65_uc010rvx.1_Intron|ATM_uc001pke.1_Nonsense_Mutation_p.E924*|ATM_uc001pkg.1_Nonsense_Mutation_p.E629*	NM_000051	NP_000042	Q13315	ATM_HUMAN	ataxia telangiectasia mutated isoform 1	2272	FAT.				cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding			haematopoietic_and_lymphoid_tissue(174)|lung(25)|breast(15)|large_intestine(9)|ovary(5)|kidney(5)|central_nervous_system(4)|upper_aerodigestive_tract(1)|stomach(1)|NS(1)	240		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		TCAGCTCCCTGAAAGGGCAAT	0.338		NaN	D|Mis|N|F|S		T-PLL	leukemia|lymphoma|medulloblastoma|glioma		Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents	Ataxia_Telangiectasia	TSP Lung(14;0.12)			1	0	0.00621372	1	0.00626926	8	34		Valid		
EXPH5	23086	broad.mit.edu	37	11	108382527	108382527	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:108382527G>A	uc001pkk.2	-	6	3818	c.3707C>T	c.(3706-3708)TCT>TTT	p.S1236F	EXPH5_uc010rvy.1_Missense_Mutation_p.S1048F|EXPH5_uc010rvz.1_Missense_Mutation_p.S1080F|EXPH5_uc010rwa.1_Missense_Mutation_p.S1160F	NM_015065	NP_055880	Q8NEV8	EXPH5_HUMAN	exophilin 5 isoform a	1236					intracellular protein transport		Rab GTPase binding			skin(3)|ovary(2)	5		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		ACCAGAAACAGAAAACGTACT	0.373		NaN											0	0	0	1	0	19	61				
DDX10	1662	broad.mit.edu	37	11	108547945	108547945	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:108547945C>A	uc001pkm.2	+	4	577	c.512C>A	c.(511-513)TCA>TAA	p.S171*	DDX10_uc001pkl.1_Nonsense_Mutation_p.S171*	NM_004398	NP_004389	Q13206	DDX10_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 10	171	Helicase ATP-binding.						ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity			breast(2)|lung(1)|prostate(1)	4		all_cancers(61;1.29e-11)|all_epithelial(67;2.96e-07)|Melanoma(852;1.54e-05)|Acute lymphoblastic leukemia(157;4.24e-05)|all_hematologic(158;0.000141)|Breast(348;0.026)|all_neural(223;0.0729)		BRCA - Breast invasive adenocarcinoma(274;2.48e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.000609)|OV - Ovarian serous cystadenocarcinoma(223;0.133)		CATGACTTCTCAGCTGGTCTC	0.468		NaN	T	NUP98	AML*								1	0	1.06801e-11	1	1.11821e-11	29	111				
DDX10	1662	broad.mit.edu	37	11	108811112	108811112	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:108811112G>A	uc001pkm.2	+	18	2655	c.2590G>A	c.(2590-2592)GAA>AAA	p.E864K		NM_004398	NP_004389	Q13206	DDX10_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 10	864							ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity			breast(2)|lung(1)|prostate(1)	4		all_cancers(61;1.29e-11)|all_epithelial(67;2.96e-07)|Melanoma(852;1.54e-05)|Acute lymphoblastic leukemia(157;4.24e-05)|all_hematologic(158;0.000141)|Breast(348;0.026)|all_neural(223;0.0729)		BRCA - Breast invasive adenocarcinoma(274;2.48e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.000609)|OV - Ovarian serous cystadenocarcinoma(223;0.133)		AGCAGAGGATGAAGAGCTGGT	0.478		NaN	T	NUP98	AML*								0	0	0	1	0	7	56				
C11orf1	64776	broad.mit.edu	37	11	111754506	111754506	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:111754506G>A	uc001pmd.2	+	4	692	c.355G>A	c.(355-357)GAG>AAG	p.E119K	C11orf1_uc001pme.2_Missense_Mutation_p.E159K	NM_022761	NP_073598	Q9H5F2	CK001_HUMAN	hypothetical protein LOC64776	119						nucleus					0		all_cancers(61;1.26e-15)|all_epithelial(67;9.52e-10)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|Medulloblastoma(222;0.0228)|all_neural(223;0.0281)		all cancers(92;6.28e-09)|Epithelial(105;4.11e-08)|OV - Ovarian serous cystadenocarcinoma(223;1.52e-07)|BRCA - Breast invasive adenocarcinoma(274;1.1e-06)		ATTTAAGCGAGAGCCTCACTG	0.393		NaN											0	0	0	1	0	17	49				
DIXDC1	85458	broad.mit.edu	37	11	111888513	111888513	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:111888513G>A	uc001pml.2	+	20	2172	c.1875G>A	c.(1873-1875)GTG>GTA	p.V625V	DIXDC1_uc001pmm.2_Silent_p.V414V|DIXDC1_uc001pmn.2_Silent_p.V331V|DIXDC1_uc010rwq.1_Silent_p.V290V	NM_001037954	NP_001033043	Q155Q3	DIXC1_HUMAN	DIX domain containing 1 isoform a	625	DIX.				multicellular organismal development|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	cytosol|focal adhesion	actin binding|gamma-tubulin binding|signal transducer activity			ovary(1)	1		all_cancers(61;7.58e-15)|all_epithelial(67;5.42e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;2.99e-07)|BRCA - Breast invasive adenocarcinoma(274;6.72e-07)|all cancers(92;6.25e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0548)		TGGAGGAGGTGACGTTAAAGG	0.433		NaN											0	0	0	1	0	3	15				
ZW10	9183	broad.mit.edu	37	11	113631013	113631013	+	Silent	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:113631013G>C	uc001poe.2	-	5	535	c.498C>G	c.(496-498)CTC>CTG	p.L166L	ZW10_uc009yyv.2_RNA	NM_004724	NP_004715	O43264	ZW10_HUMAN	centromere/kinetochore protein zw10	166	Interaction with RINT1.				cell division|ER to Golgi vesicle-mediated transport|establishment of mitotic spindle orientation|meiosis|mitotic cell cycle checkpoint|mitotic metaphase plate congression|mitotic prometaphase|protein complex assembly|protein localization to kinetochore|protein transport|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|endoplasmic reticulum membrane|kinetochore microtubule|nucleus|spindle pole	centromeric DNA binding|protein binding			central_nervous_system(1)|skin(1)	2		all_cancers(61;3.84e-16)|all_epithelial(67;1e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000237)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0421)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.94e-06)|Epithelial(105;0.000103)|all cancers(92;0.000786)		TCTGTATTGTGAGCTCCATGC	0.393		NaN											0	0	0	1	0	11	41				
NNMT	4837	broad.mit.edu	37	11	114168699	114168699	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:114168699G>A	uc001por.1	+	4	445	c.181G>A	c.(181-183)GAC>AAC	p.D61N	NNMT_uc001pos.1_Missense_Mutation_p.D61N	NM_006169	NP_006160	P40261	NNMT_HUMAN	nicotinamide N-methyltransferase	61					xenobiotic metabolic process	cytosol	nicotinamide N-methyltransferase activity|pyridine N-methyltransferase activity			ovary(1)	1		all_cancers(61;4.83e-16)|all_epithelial(67;7.28e-09)|all_hematologic(158;0.000135)|Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0906)		BRCA - Breast invasive adenocarcinoma(274;2.79e-06)|Epithelial(105;1.32e-05)|all cancers(92;0.000144)|OV - Ovarian serous cystadenocarcinoma(223;0.128)	Niacin(DB00627)	CCTGCTGATTGACATCGGCTC	0.507		NaN											0	0	0	1	0	15	85				
CEP164	22897	broad.mit.edu	37	11	117244524	117244524	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:117244524G>A	uc001prc.2	+	10	1357	c.1210G>A	c.(1210-1212)GAC>AAC	p.D404N	CEP164_uc001prb.2_Missense_Mutation_p.D404N|CEP164_uc010rxk.1_Missense_Mutation_p.D378N|CEP164_uc001prf.2_RNA|CEP164_uc009yzp.1_RNA	NM_014956	NP_055771	Q9UPV0	CE164_HUMAN	centrosomal protein 164kDa	404					cell division|DNA repair|G2/M transition of mitotic cell cycle|mitosis	centriole|cytosol|nucleus				ovary(1)|central_nervous_system(1)	2	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008)		CATAGCTTCTGACCCCAAGTC	0.343		NaN											0	0	0	1	0	24	54				
DSCAML1	57453	broad.mit.edu	37	11	117308767	117308767	+	Missense_Mutation	SNP	C	C	G	rs140883925		TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:117308767C>G	uc001prh.1	-	25	4458	c.4456G>C	c.(4456-4458)GAG>CAG	p.E1486Q		NM_020693	NP_065744	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	1426	Fibronectin type-III 5.|Extracellular (Potential).				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			ovary(3)|large_intestine(2)|skin(2)|upper_aerodigestive_tract(1)	8	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		TTCCACTCCTCGCTGTTGTCC	0.602		NaN											0	0	0	1	0	17	43				
TMPRSS4	56649	broad.mit.edu	37	11	117988106	117988106	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:117988106G>A	uc010rxo.1	+	12	1530	c.1239G>A	c.(1237-1239)CCG>CCA	p.P413P	TMPRSS4_uc010rxp.1_Silent_p.P408P|TMPRSS4_uc010rxq.1_Silent_p.P266P|TMPRSS4_uc010rxr.1_Silent_p.P388P|TMPRSS4_uc010rxs.1_Silent_p.P373P|TMPRSS4_uc009yzu.2_RNA|TMPRSS4_uc010rxt.1_Silent_p.P388P	NM_019894	NP_063947	Q9NRS4	TMPS4_HUMAN	transmembrane protease, serine 4 isoform 1	413	Extracellular (Potential).|Peptidase S1.				proteolysis	integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			large_intestine(1)|central_nervous_system(1)	2	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0431)|all_hematologic(192;0.164)|Breast(348;0.183)|all_neural(223;0.238)		BRCA - Breast invasive adenocarcinoma(274;4.16e-05)|Epithelial(105;0.00204)		GCGGGGGCCCGAGCACCCCAG	0.572		NaN											0	0	0	1	0	48	163				
ZNF202	7753	broad.mit.edu	37	11	123597521	123597521	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:123597521C>T	uc001pzd.1	-	9	1531	c.1131G>A	c.(1129-1131)GTG>GTA	p.V377V	ZNF202_uc001pzc.1_Silent_p.V153V|ZNF202_uc001pze.1_Silent_p.V377V|ZNF202_uc001pzf.1_Silent_p.V377V	NM_003455	NP_003446	O95125	ZN202_HUMAN	zinc finger protein 202	377					lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.03)		CAAAACTATTCACTTGAGAAA	0.433		NaN											0	0	0	1	0	21	107				
ROBO4	54538	broad.mit.edu	37	11	124766975	124766975	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:124766975C>G	uc001qbg.2	-	2	393	c.253G>C	c.(253-255)GAT>CAT	p.D85H	ROBO4_uc010sas.1_Intron|ROBO4_uc001qbh.2_Intron|ROBO4_uc010sat.1_5'Flank	NM_019055	NP_061928	Q8WZ75	ROBO4_HUMAN	roundabout homolog 4, magic roundabout	85	Ig-like C2-type 1.				angiogenesis|cell differentiation	integral to membrane	receptor activity			ovary(1)|skin(1)	2	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)		AGGGTCCCATCAGGCAGGAGG	0.657		NaN											0	0	0	1	0	7	31				
SRPR	6734	broad.mit.edu	37	11	126137185	126137185	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:126137185C>G	uc001qdh.2	-	4	462	c.411G>C	c.(409-411)AAG>AAC	p.K137N	SRPR_uc010sbm.1_Missense_Mutation_p.K109N|FOXRED1_uc001qdi.2_5'Flank|FOXRED1_uc010sbn.1_5'Flank|FOXRED1_uc010sbo.1_5'Flank|FOXRED1_uc010sbp.1_5'Flank|FOXRED1_uc010sbq.1_5'Flank|FOXRED1_uc001qdj.2_5'Flank|FOXRED1_uc010sbr.1_5'Flank	NM_003139	NP_003130	P08240	SRPR_HUMAN	signal recognition particle receptor	137					SRP-dependent cotranslational protein targeting to membrane	integral to membrane|signal recognition particle receptor complex	GTP binding|GTPase activity|receptor activity|signal recognition particle binding				0	all_hematologic(175;0.145)			BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0736)		CTTCAAATTTCTTCATGGTAG	0.418		NaN											0	0	0	1	0	47	125				
FOXRED1	55572	broad.mit.edu	37	11	126142911	126142911	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:126142911G>A	uc001qdi.2	+	3	401	c.354G>A	c.(352-354)CAG>CAA	p.Q118Q	FOXRED1_uc010sbn.1_5'UTR|FOXRED1_uc010sbo.1_RNA|FOXRED1_uc010sbp.1_5'UTR|FOXRED1_uc010sbq.1_5'UTR|FOXRED1_uc001qdj.2_5'UTR|FOXRED1_uc010sbr.1_Silent_p.Q104Q|FOXRED1_uc001qdk.2_5'UTR	NM_017547	NP_060017	Q96CU9	FXRD1_HUMAN	FAD-dependent oxidoreductase domain containing	118						integral to membrane|mitochondrion	oxidoreductase activity|protein binding				0	all_hematologic(175;0.145)	Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0739)|all_lung(97;0.0798)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0729)		TTTGTCAGCAGTTCTCATTGC	0.483		NaN											0	0	0	1	0	25	76				
NFRKB	4798	broad.mit.edu	37	11	129744722	129744722	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:129744722G>A	uc001qfi.2	-	19	2145	c.1944C>T	c.(1942-1944)ATC>ATT	p.I648I	NFRKB_uc001qfg.2_Silent_p.I673I|NFRKB_uc001qfh.2_Silent_p.I671I|NFRKB_uc010sbw.1_Silent_p.I658I|NFRKB_uc009zcr.2_5'UTR	NM_001143835	NP_001137307	Q6P4R8	NFRKB_HUMAN	nuclear factor related to kappaB binding protein	648					DNA recombination|DNA repair|inflammatory response|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Ino80 complex	DNA binding|protease binding			ovary(3)	3	all_hematologic(175;0.0537)	Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0167)|Lung(977;0.171)|LUSC - Lung squamous cell carcinoma(976;0.184)		GATGCAGGTAGATCCACAGCT	0.488		NaN											0	0	0	1	0	45	147				
B3GAT1	27087	broad.mit.edu	37	11	134252640	134252640	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:134252640G>A	uc001qhq.2	-	5	1143	c.882C>T	c.(880-882)CTC>CTT	p.L294L	B3GAT1_uc001qhr.2_Silent_p.L294L|B3GAT1_uc010scv.1_Silent_p.L307L	NM_018644	NP_061114	Q9P2W7	B3GA1_HUMAN	beta-1,3-glucuronyltransferase 1	294	Lumenal (Potential).				carbohydrate metabolic process	Golgi membrane|integral to membrane	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity|metal ion binding			ovary(1)	1	all_hematologic(175;0.127)	all_cancers(12;1.39e-23)|all_epithelial(12;7.17e-17)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|Medulloblastoma(222;0.0125)|all_neural(223;0.0137)|Esophageal squamous(93;0.0559)		Epithelial(10;2.58e-11)|all cancers(11;5.75e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.000879)|Lung(977;0.0864)		CCAGGTCGTTGAGGGTGACAA	0.572		NaN											0	0	0	1	0	15	64				
CCDC77	84318	broad.mit.edu	37	12	549890	549890	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr12:549890G>A	uc001qig.2	+	11	1329	c.1149G>A	c.(1147-1149)ATG>ATA	p.M383I	CCDC77_uc009zdk.2_Missense_Mutation_p.M351I|CCDC77_uc010sdp.1_Missense_Mutation_p.M351I|CCDC77_uc010sdq.1_Missense_Mutation_p.M351I	NM_032358	NP_115734	Q9BR77	CCD77_HUMAN	coiled-coil domain containing 77 isoform a	383	Potential.					centrosome				ovary(1)	1	all_cancers(10;0.0149)|all_epithelial(11;0.035)|all_lung(10;0.111)|Ovarian(42;0.142)|Lung NSC(10;0.156)		OV - Ovarian serous cystadenocarcinoma(31;0.00123)|BRCA - Breast invasive adenocarcinoma(9;0.033)			AAGAGGGAATGAGGAGAGAGA	0.438		NaN											0	0	0	1	0	12	45				
WNK1	65125	broad.mit.edu	37	12	1005785	1005785	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr12:1005785G>C	uc001qio.3	+	24	6639	c.6132G>C	c.(6130-6132)CAG>CAC	p.Q2044H	WNK1_uc001qip.3_Missense_Mutation_p.Q1796H|WNK1_uc001qir.3_Missense_Mutation_p.Q1217H	NM_018979	NP_061852	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	2044					intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			stomach(6)|breast(6)|ovary(5)|lung(4)|large_intestine(1)|central_nervous_system(1)	23	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			TTCCTAGCCAGAATCTAAGTC	0.463		NaN											0	0	0	1	0	12	41				
DCP1B	196513	broad.mit.edu	37	12	2113469	2113469	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr12:2113469G>T	uc001qjx.1	-	1	209	c.129C>A	c.(127-129)TTC>TTA	p.F43L	DCP1B_uc010sdy.1_5'UTR|DCP1B_uc010sdz.1_Missense_Mutation_p.F43L	NM_152640	NP_689853	Q8IZD4	DCP1B_HUMAN	decapping enzyme Dcp1b	43					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytosol|nucleus	hydrolase activity|protein binding			skin(1)	1			OV - Ovarian serous cystadenocarcinoma(31;0.00193)			CCCGATGGCCGAAGGTGTACA	0.682		NaN											1	0	4.68919e-08	1	4.86744e-08	11	43				
CACNA1C	775	broad.mit.edu	37	12	2224703	2224703	+	Silent	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr12:2224703C>G	uc009zdu.1	+	2	676	c.363C>G	c.(361-363)GTC>GTG	p.V121V	CACNA1C_uc009zdv.1_Silent_p.V121V|CACNA1C_uc001qkb.2_Silent_p.V121V|CACNA1C_uc001qkc.2_Silent_p.V121V|CACNA1C_uc001qke.2_Silent_p.V121V|CACNA1C_uc001qkf.2_Silent_p.V121V|CACNA1C_uc001qjz.2_Silent_p.V121V|CACNA1C_uc001qkd.2_Silent_p.V121V|CACNA1C_uc001qkg.2_Silent_p.V121V|CACNA1C_uc009zdw.1_Silent_p.V121V|CACNA1C_uc001qkh.2_Silent_p.V121V|CACNA1C_uc001qkl.2_Silent_p.V121V|CACNA1C_uc001qkn.2_Silent_p.V121V|CACNA1C_uc001qko.2_Silent_p.V121V|CACNA1C_uc001qkp.2_Silent_p.V121V|CACNA1C_uc001qkr.2_Silent_p.V121V|CACNA1C_uc001qku.2_Silent_p.V121V|CACNA1C_uc001qkq.2_Silent_p.V121V|CACNA1C_uc001qks.2_Silent_p.V121V|CACNA1C_uc001qkt.2_Silent_p.V121V	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type,	121	Cytoplasmic (Potential).|I.				axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			ovary(10)|central_nervous_system(1)	11			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	TCAGCATTGTCGAATGGAAAT	0.647		NaN											0	0	0	1	0	20	77				
GPR162	27239	broad.mit.edu	37	12	6933172	6933172	+	Silent	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr12:6933172C>G	uc001qqw.1	+	2	643	c.108C>G	c.(106-108)CTC>CTG	p.L36L	GPR162_uc010sfn.1_Silent_p.L36L|GPR162_uc001qqx.1_Intron|GPR162_uc009zfd.1_Intron|GPR162_uc001qqy.1_5'Flank	NM_019858	NP_062832	Q16538	GP162_HUMAN	G protein-coupled receptor 162 isoform 2	36	Helical; Name=1; (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(1)|central_nervous_system(1)|pancreas(1)	3						GGATCATCCTCAGCATCTCGG	0.657		NaN											0	0	0	1	0	15	34				
TAS2R43	259289	broad.mit.edu	37	12	11244734	11244734	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr12:11244734G>A	uc001qzq.1	-	1	179	c.95C>T	c.(94-96)TCC>TTC	p.S32F	PRR4_uc009zhp.2_Intron|PRH1_uc001qzb.3_Intron|PRH1_uc001qzc.2_Intron|PRB4_uc001qzf.1_Intron|PRH1_uc001qzj.2_Intron	NM_176884	NP_795365	P59537	T2R43_HUMAN	taste receptor, type 2, member 43	32	Cytoplasmic (Potential).				detection of chemical stimulus involved in sensory perception of bitter taste	cilium membrane|motile cilium	bitter taste receptor activity			ovary(1)	1			OV - Ovarian serous cystadenocarcinoma(49;0.0344)	BRCA - Breast invasive adenocarcinoma(232;0.196)		CCACTCAATGGAATTTACCAG	0.388		NaN											0	0	0	1	0	12	52				
ETV6	2120	broad.mit.edu	37	12	12022357	12022357	+	Splice_Site	SNP	G	G	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr12:12022357G>T	uc001qzz.2	+	5	738	c.464_splice	c.e5-1	p.D155_splice	ETV6_uc001raa.1_5'Flank	NM_001987	NP_001978	P41212	ETV6_HUMAN	ets variant 6							cytoplasm|nucleolus	protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		ETV6/NTRK3(234)|ETV6/JAK2(11)	soft_tissue(85)|kidney(66)|breast(55)|salivary_gland(26)|haematopoietic_and_lymphoid_tissue(13)|ovary(2)|upper_aerodigestive_tract(1)|skin(1)|pancreas(1)	250		all_cancers(2;1.88e-12)|Acute lymphoblastic leukemia(2;6.91e-39)|all_hematologic(2;2.7e-36)				CTGCTCCACAGATAACTGTGT	0.552		NaN	T	NTRK3|RUNX1|PDGFRB|ABL1|MN1|ABL2|FACL6|CHIC2|ARNT|JAK2|EVI1|CDX2|STL|HLXB9|MDS2|PER1|SYK|TTL|FGFR3|PAX5	congenital fibrosarcoma|multiple leukemia and lymphoma| secretory breast|MDS|ALL								1	0	4.14481e-20	1	4.40223e-20	38	130				
GRIN2B	2904	broad.mit.edu	37	12	13769390	13769390	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr12:13769390C>T	uc001rbt.2	-	5	1506	c.1327G>A	c.(1327-1329)GAG>AAG	p.E443K		NM_000834	NP_000825	Q13224	NMDE2_HUMAN	N-methyl-D-aspartate receptor subunit 2B	443	Extracellular (Potential).				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			central_nervous_system(4)|ovary(3)|skin(3)|lung(2)	12					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	ATGCCATACTCAGTGACTATG	0.527		NaN											0	0	0	1	0	16	50				
ERP27	121506	broad.mit.edu	37	12	15068615	15068615	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr12:15068615G>A	uc001rco.2	-	6	603	c.582C>T	c.(580-582)CTC>CTT	p.L194L		NM_152321	NP_689534	Q96DN0	ERP27_HUMAN	endoplasmic reticulum protein 27 kDa precursor	194						endoplasmic reticulum lumen				breast(1)	1						CCAGAATAAAGAGAATCTGCA	0.403		NaN											0	0	0	1	0	11	41				
C12orf11	55726	broad.mit.edu	37	12	27066474	27066474	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr12:27066474C>T	uc001rhk.3	-	14	2258	c.1721G>A	c.(1720-1722)GGA>GAA	p.G574E	C12orf11_uc001rhj.3_Missense_Mutation_p.G142E|C12orf11_uc010sjk.1_Missense_Mutation_p.G473E	NM_018164	NP_060634	Q9NVM9	M89BB_HUMAN	hypothetical protein LOC55726	574	Potential.				cell division|mitosis|regulation of mitotic cell cycle		protein binding			large_intestine(1)|ovary(1)|central_nervous_system(1)	3	Colorectal(261;0.0847)					CCTCTTTCTTCCTCGTTTCTT	0.448		NaN											0	0	0	1	0	67	234				
ARNTL2	56938	broad.mit.edu	37	12	27543128	27543128	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr12:27543128C>A	uc001rht.1	+	9	893	c.875C>A	c.(874-876)TCT>TAT	p.S292Y	ARNTL2_uc001rhw.2_Missense_Mutation_p.S255Y|ARNTL2_uc010sjp.1_Missense_Mutation_p.S255Y|ARNTL2_uc001rhu.1_Missense_Mutation_p.S278Y|ARNTL2_uc009zji.1_Missense_Mutation_p.S258Y|ARNTL2_uc001rhv.1_Missense_Mutation_p.S244Y|uc001rhx.2_Intron	NM_020183	NP_064568	Q8WYA1	BMAL2_HUMAN	aryl hydrocarbon receptor nuclear	292					circadian rhythm|entrainment of circadian clock|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			ovary(1)|skin(1)	2	Colorectal(261;0.0847)|Lung SC(9;0.184)					TGTAAAATCTCTGTCAAAGAA	0.393		NaN											1	0	3.99206e-14	1	4.2057e-14	19	64				
ARNTL2	56938	broad.mit.edu	37	12	27553558	27553558	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr12:27553558G>A	uc001rht.1	+	10	1029	c.1011G>A	c.(1009-1011)AAG>AAA	p.K337K	ARNTL2_uc001rhw.2_Silent_p.K300K|ARNTL2_uc010sjp.1_Silent_p.K300K|ARNTL2_uc001rhu.1_Silent_p.K323K|ARNTL2_uc009zji.1_Silent_p.K303K|ARNTL2_uc001rhv.1_Silent_p.K289K|uc001rhx.2_Intron	NM_020183	NP_064568	Q8WYA1	BMAL2_HUMAN	aryl hydrocarbon receptor nuclear	337					circadian rhythm|entrainment of circadian clock|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			ovary(1)|skin(1)	2	Colorectal(261;0.0847)|Lung SC(9;0.184)					GGAACAGTAAGAAAGACAACA	0.378		NaN											0	0	0	1	0	23	50				
C12orf40	283461	broad.mit.edu	37	12	40037702	40037702	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr12:40037702G>C	uc001rmc.2	+	3	352	c.185G>C	c.(184-186)TGC>TCC	p.C62S	C12orf40_uc009zjv.1_Intron	NM_001031748	NP_001026918	Q86WS4	CL040_HUMAN	hypothetical protein LOC283461	62										ovary(6)	6						CAGATATCTTGCAAGAAGAAA	0.294		NaN											0	0	0	1	0	7	38				
ADAMTS20	80070	broad.mit.edu	37	12	43826205	43826205	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr12:43826205G>A	uc010skx.1	-	21	2998	c.2998C>T	c.(2998-3000)CGT>TGT	p.R1000C	ADAMTS20_uc001rno.1_Missense_Mutation_p.R154C|ADAMTS20_uc001rnp.1_Missense_Mutation_p.R154C	NM_025003	NP_079279	P59510	ATS20_HUMAN	a disintegrin-like and metalloprotease with	1000	TSP type-1 4.					proteinaceous extracellular matrix	zinc ion binding			central_nervous_system(5)|ovary(4)|lung(3)|large_intestine(2)|skin(2)|urinary_tract(1)|kidney(1)|pancreas(1)	19	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		TCAGCAAGACGATGGCCAAAG	0.433		NaN											0	0	0	1	0	18	70				
LALBA	3906	broad.mit.edu	37	12	48962944	48962944	+	Silent	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr12:48962944G>C	uc001rrt.2	-	2	239	c.213C>G	c.(211-213)CTC>CTG	p.L71L		NM_002289	NP_002280	P00709	LALBA_HUMAN	lactalbumin, alpha- precursor	71					cell-cell signaling|defense response to bacterium|induction of apoptosis|lactose biosynthetic process|signal transduction	extracellular space	calcium ion binding|lactose synthase activity				0						TGATCTGGAAGAGTCCATATT	0.453		NaN											0	0	0	1	0	18	65				
CCNT1	904	broad.mit.edu	37	12	49087241	49087241	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr12:49087241C>G	uc001rse.1	-	9	2079	c.1756G>C	c.(1756-1758)GAT>CAT	p.D586H	LOC144438_uc001rsd.3_5'Flank|CCNT1_uc009zkz.1_Missense_Mutation_p.D301H	NM_001240	NP_001231	O60563	CCNT1_HUMAN	cyclin T1	586	Ser-rich.				cell cycle|cell division|interspecies interaction between organisms|positive regulation of viral transcription|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	DNA binding|protein kinase binding			ovary(3)|lung(1)|breast(1)|skin(1)	6						GCTGGATGATCAAACACAGCC	0.453		NaN											0	0	0	1	0	21	61				
ADCY6	112	broad.mit.edu	37	12	49164698	49164698	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr12:49164698G>A	uc001rsh.3	-	19	3767	c.3107C>T	c.(3106-3108)ACC>ATC	p.T1036I	ADCY6_uc001rsj.3_Missense_Mutation_p.T1036I|ADCY6_uc001rsi.3_Missense_Mutation_p.T983I|ADCY6_uc010slw.1_3'UTR	NM_015270	NP_056085	O43306	ADCY6_HUMAN	adenylate cyclase 6 isoform a	1036	Cytoplasmic (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane	ATP binding|metal ion binding				0						AGCCATGTAGGTGCTACCAAT	0.582		NaN											0	0	0	1	0	30	74				
ARF3	377	broad.mit.edu	37	12	49334843	49334843	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr12:49334843C>T	uc001rsr.2	-	2	289	c.36G>A	c.(34-36)CTG>CTA	p.L12L	ARF3_uc010smc.1_Silent_p.L12L	NM_001659	NP_001650	P61204	ARF3_HUMAN	ADP-ribosylation factor 3	12					protein transport|small GTPase mediated signal transduction|vesicle-mediated transport	Golgi apparatus|perinuclear region of cytoplasm	GTP binding|GTPase activity				0						TCTTCCCAATCAGGCTCTTGA	0.547		NaN											0	0	0	1	0	53	191				
PRKAG1	5571	broad.mit.edu	37	12	49406883	49406883	+	Nonsense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr12:49406883G>C	uc001rsy.2	-	2	89	c.20C>G	c.(19-21)TCA>TGA	p.S7*	uc001rsw.2_Intron|PRKAG1_uc010smd.1_5'UTR|PRKAG1_uc001rsx.2_5'UTR|PRKAG1_uc001rsz.2_Nonsense_Mutation_p.S7*|PRKAG1_uc009zlb.2_5'UTR|PRKAG1_uc010sme.1_Nonsense_Mutation_p.S7*	NM_002733	NP_002724	P54619	AAKG1_HUMAN	AMP-activated protein kinase, noncatalytic	7					cell cycle arrest|fatty acid biosynthetic process|insulin receptor signaling pathway|positive regulation of protein kinase activity|regulation of fatty acid oxidation|regulation of glycolysis|spermatogenesis	cytosol	cAMP-dependent protein kinase activity|cAMP-dependent protein kinase regulator activity|protein kinase binding			kidney(1)	1						GGAGCTATCTGAAGAAATGAC	0.423		NaN											0	0	0	1	0	10	48				
MLL2	8085	broad.mit.edu	37	12	49427438	49427438	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr12:49427438G>A	uc001rta.3	-	39	11050	c.11050C>T	c.(11050-11052)CAA>TAA	p.Q3684*		NM_003482	NP_003473	O14686	MLL2_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 2	3684	Gln-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						CCAGAATGTTGCTGTTGCTGC	0.597		NaN	N|F|Mis		medulloblastoma|renal					HNSCC(34;0.089)			0	0	0	1	0	33	112		Valid		
DHH	50846	broad.mit.edu	37	12	49485101	49485101	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr12:49485101C>T	uc001rtf.2	-	2	682	c.375G>A	c.(373-375)GTG>GTA	p.V125V		NM_021044	NP_066382	O43323	DHH_HUMAN	desert hedgehog preproprotein	125					cell-cell signaling|proteolysis	extracellular space|plasma membrane	calcium ion binding|peptidase activity|zinc ion binding			lung(1)|breast(1)	2						AGCCCTCAGTCACTCGTAGGC	0.597		NaN											0	0	0	1	0	32	76				
PRPH	5630	broad.mit.edu	37	12	49689307	49689307	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr12:49689307C>T	uc001rtu.2	+	1	399	c.324C>T	c.(322-324)TTC>TTT	p.F108F		NM_006262	NP_006253	P41219	PERI_HUMAN	peripherin	108	Coil 1A.|Rod.						structural molecule activity				0						ACGACCGCTTCGCCAACTTCA	0.682		NaN											0	0	0	1	0	8	13				
MCRS1	10445	broad.mit.edu	37	12	49952459	49952459	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr12:49952459G>C	uc001ruk.1	-	15	1547	c.1356C>G	c.(1354-1356)ATC>ATG	p.I452M	MCRS1_uc001rui.1_Missense_Mutation_p.I465M|MCRS1_uc001ruj.1_Missense_Mutation_p.I439M|MCRS1_uc001rul.1_Missense_Mutation_p.I452M|MCRS1_uc009zlj.1_Missense_Mutation_p.I261M|MCRS1_uc001rum.1_Missense_Mutation_p.I439M	NM_006337	NP_006328	Q96EZ8	MCRS1_HUMAN	microspherule protein 1 isoform 1	452					DNA recombination|DNA repair|protein modification process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|Ino80 complex|MLL1 complex|nucleolus	protein binding			large_intestine(1)	1						CCTCAGCCCTGATGAGGGCAA	0.607		NaN											0	0	0	1	0	18	71				
PRPF40B	25766	broad.mit.edu	37	12	50035705	50035705	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr12:50035705C>T	uc001rur.1	+	18	1780	c.1716C>T	c.(1714-1716)TGC>TGT	p.C572C	FMNL3_uc001ruv.1_3'UTR|FMNL3_uc001ruw.1_3'UTR|PRPF40B_uc001rup.1_Silent_p.C594C|PRPF40B_uc001ruq.1_Intron|PRPF40B_uc001rus.1_Silent_p.C515C|FMNL3_uc001rut.1_3'UTR|FMNL3_uc001ruu.1_3'UTR	NM_001031698	NP_001026868	Q6NWY9	PR40B_HUMAN	Huntingtin interacting protein C isoform 1	572					mRNA processing|RNA splicing	nuclear speck				skin(2)|ovary(1)|pancreas(1)|kidney(1)	5						GGGGCTTCTGCGTGGAGGTGA	0.577		NaN											0	0	0	1	0	19	79				
ACCN2	41	broad.mit.edu	37	12	50453669	50453669	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr12:50453669G>A	uc001rvw.2	+	3	719	c.490G>A	c.(490-492)GAC>AAC	p.D164N	ACCN2_uc001rvv.2_Missense_Mutation_p.D164N|ACCN2_uc009zln.2_5'UTR|ACCN2_uc009zlo.2_Missense_Mutation_p.D164N	NM_001095	NP_001086	P78348	ACCN2_HUMAN	amiloride-sensitive cation channel 2, neuronal	164	Extracellular (By similarity).				calcium ion transport|response to pH|signal transduction	integral to plasma membrane	ligand-gated sodium channel activity|protein binding			ovary(1)	1					Amiloride(DB00594)	AGCTGGGCACGACATTCGAGA	0.567		NaN											0	0	0	1	0	10	40				
GALNT6	11226	broad.mit.edu	37	12	51773340	51773340	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr12:51773340G>C	uc001ryk.2	-	2	451	c.226C>G	c.(226-228)CCA>GCA	p.P76A	GALNT6_uc009zma.1_RNA|GALNT6_uc001ryl.1_Missense_Mutation_p.P76A|GALNT6_uc010snh.1_Missense_Mutation_p.P76A	NM_007210	NP_009141	Q8NCL4	GALT6_HUMAN	polypeptide N-acetylgalactosaminyltransferase 6	76	Lumenal (Potential).				protein O-linked glycosylation	Golgi membrane|integral to membrane|perinuclear region of cytoplasm	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			ovary(2)	2						TGGGCTTCTGGAGCCCTGATT	0.562		NaN											0	0	0	1	0	42	91				
KRT6C	286887	broad.mit.edu	37	12	52865855	52865855	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr12:52865855C>T	uc001sal.3	-	2	798	c.750G>A	c.(748-750)AAG>AAA	p.K250K		NM_173086	NP_775109	P48668	K2C6C_HUMAN	keratin 6C	250	Coil 1B.|Rod.				cytoskeleton organization	keratin filament	structural molecule activity			ovary(2)	2				BRCA - Breast invasive adenocarcinoma(357;0.0828)		CTCACTTGTTCTTGAGGTCCT	0.547		NaN											0	0	0	1	0	28	97				
PCBP2	5094	broad.mit.edu	37	12	53858606	53858606	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr12:53858606C>T	uc001sdl.3	+	9	1004	c.654C>T	c.(652-654)CTC>CTT	p.L218L	PCBP2_uc001sdc.3_Silent_p.L218L|PCBP2_uc001sdb.3_Silent_p.L214L|PCBP2_uc001sde.3_Silent_p.L214L|PCBP2_uc001sdi.3_Intron|PCBP2_uc001sdd.3_Intron|PCBP2_uc001sdf.3_Intron|PCBP2_uc009zna.2_Silent_p.L175L|PCBP2_uc010soi.1_Intron|PCBP2_uc001sdj.3_Intron|PCBP2_uc010soj.1_Intron|PCBP2_uc001sdk.3_Silent_p.L3L|PCBP2_uc010soh.1_Silent_p.L214L	NM_001128911	NP_001122383	Q15366	PCBP2_HUMAN	poly(rC) binding protein 2 isoform d	218					innate immune response|negative regulation of defense response to virus|negative regulation of type I interferon production|nuclear mRNA splicing, via spliceosome|proteasomal ubiquitin-dependent protein catabolic process|response to virus	cytosol|nucleoplasm|ribonucleoprotein complex	DNA binding|RNA binding|ubiquitin protein ligase binding				0						ccatgtgcctcaaccctgacc	0		NaN											0	0	0	1	0	20	60				
GPR84	53831	broad.mit.edu	37	12	54756722	54756722	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr12:54756722C>T	uc001sfu.2	-	2	1004	c.914G>A	c.(913-915)AGA>AAA	p.R305K		NM_020370	NP_065103	Q9NQS5	GPR84_HUMAN	G protein-coupled receptor 84	305	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(2)	2						CGGAGCTCTTCTGGCTCCTTT	0.507		NaN											0	0	0	1	0	50	147				
OR6C74	254783	broad.mit.edu	37	12	55641610	55641610	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr12:55641610C>G	uc010spg.1	+	1	539	c.539C>G	c.(538-540)TCT>TGT	p.S180C		NM_001005490	NP_001005490	A6NCV1	O6C74_HUMAN	olfactory receptor, family 6, subfamily C,	180	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)	1						TGTGATGTTTCTCCTATACTG	0.433		NaN											0	0	0	1	0	20	79				
SILV	6490	broad.mit.edu	37	12	56349424	56349424	+	Nonsense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr12:56349424G>C	uc001sip.2	-	9	1617	c.1586C>G	c.(1585-1587)TCA>TGA	p.S529*	SILV_uc001siq.2_Nonsense_Mutation_p.S529*|SILV_uc010spx.1_Nonsense_Mutation_p.S443*|SILV_uc001sir.2_Nonsense_Mutation_p.S529*	NM_006928	NP_008859	P40967	PMEL_HUMAN	silver homolog	529	Lumenal (Potential).				melanin biosynthetic process|melanosome organization	endoplasmic reticulum membrane|extracellular region|Golgi apparatus|integral to membrane|melanosome|multivesicular body membrane|plasma membrane	protein binding				0						CCCTGGCGATGAGATCTCCAT	0.597		NaN											0	0	0	1	0	16	86				
SILV	6490	broad.mit.edu	37	12	56349603	56349603	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr12:56349603C>T	uc001sip.2	-	8	1547	c.1516G>A	c.(1516-1518)GAG>AAG	p.E506K	SILV_uc001siq.2_Missense_Mutation_p.E506K|SILV_uc010spx.1_Missense_Mutation_p.E420K|SILV_uc001sir.2_Missense_Mutation_p.E506K	NM_006928	NP_008859	P40967	PMEL_HUMAN	silver homolog	506	Lumenal (Potential).				melanin biosynthetic process|melanosome organization	endoplasmic reticulum membrane|extracellular region|Golgi apparatus|integral to membrane|melanosome|multivesicular body membrane|plasma membrane	protein binding				0						GCATCCCCCTCACCGGACGGC	0.537		NaN									OREG0021914	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	1	0	19	71				
PAN2	9924	broad.mit.edu	37	12	56722102	56722102	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr12:56722102C>T	uc001skx.2	-	4	866	c.493G>A	c.(493-495)GAC>AAC	p.D165N	PAN2_uc001skz.2_Missense_Mutation_p.D165N|PAN2_uc001sky.2_Missense_Mutation_p.D165N	NM_001127460	NP_001120932	Q504Q3	PAN2_HUMAN	PAN2 polyA specific ribonuclease subunit homolog	165					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|ubiquitin-dependent protein catabolic process	cytosol|nucleus	nucleic acid binding|poly(A)-specific ribonuclease activity|ubiquitin thiolesterase activity			ovary(2)|skin(2)|large_intestine(1)|breast(1)	6						GTGCTGCTGTCAGTCAGTAGG	0.512		NaN											0	0	0	1	0	50	130				
HSD17B6	8630	broad.mit.edu	37	12	57181045	57181045	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr12:57181045C>T	uc001smg.1	+	5	983	c.873C>T	c.(871-873)TTC>TTT	p.F291F		NM_003725	NP_003716	O14756	H17B6_HUMAN	hydroxysteroid (17-beta) dehydrogenase 6	291					androgen biosynthetic process|androgen catabolic process	early endosome membrane|endoplasmic reticulum|microsome	binding|electron carrier activity|estradiol 17-beta-dehydrogenase activity|retinol dehydrogenase activity|testosterone 17-beta-dehydrogenase (NAD+) activity			upper_aerodigestive_tract(1)|pancreas(1)	2					Succinic acid(DB00139)	AATTTTTCTTCATCCCTCTAT	0.473		NaN											0	0	0	1	0	11	46				
HELB	92797	broad.mit.edu	37	12	66718772	66718772	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr12:66718772G>A	uc001sti.2	+	11	2564	c.2536G>A	c.(2536-2538)GAT>AAT	p.D846N	HELB_uc010ssz.1_RNA|HELB_uc009zqt.1_RNA	NM_033647	NP_387467	Q8NG08	HELB_HUMAN	helicase (DNA) B	846					DNA replication, synthesis of RNA primer		ATP binding|ATP-dependent 5'-3' DNA helicase activity|single-stranded DNA-dependent ATP-dependent DNA helicase activity			central_nervous_system(1)|pancreas(1)	2			GBM - Glioblastoma multiforme(2;0.000142)	GBM - Glioblastoma multiforme(28;0.0265)		GGATGTAACTGATGTAACTTT	0.328		NaN											0	0	0	1	0	18	56				
NAV3	89795	broad.mit.edu	37	12	78569172	78569172	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr12:78569172G>C	uc001syp.2	+	25	5241	c.5068G>C	c.(5068-5070)GAT>CAT	p.D1690H	NAV3_uc001syo.2_Missense_Mutation_p.D1690H|NAV3_uc010sub.1_Missense_Mutation_p.D1176H|NAV3_uc009zsf.2_Missense_Mutation_p.D521H	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN	neuron navigator 3	1690						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	17						CAGTGGTAATGATGCCGACTC	0.398		NaN								HNSCC(70;0.22)			0	0	0	1	0	6	46				
MGAT4C	25834	broad.mit.edu	37	12	86373294	86373294	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr12:86373294C>G	uc001tai.3	-	8	2460	c.1210G>C	c.(1210-1212)GAT>CAT	p.D404H	MGAT4C_uc001tal.3_Missense_Mutation_p.D404H|MGAT4C_uc001taj.3_Missense_Mutation_p.D404H|MGAT4C_uc001tak.3_Missense_Mutation_p.D404H|MGAT4C_uc010sum.1_Missense_Mutation_p.D428H|MGAT4C_uc001tah.3_Missense_Mutation_p.D404H	NM_013244	NP_037376	Q9UBM8	MGT4C_HUMAN	alpha-1,3-mannosyl-glycoprotein	404	Lumenal (Potential).				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding			ovary(3)	3						TGCAAAATATCATTTTGCCGA	0.328		NaN											0	0	0	1	0	14	28				
C12orf63	374467	broad.mit.edu	37	12	97157951	97157951	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr12:97157951C>T	uc001tet.1	+	26	3416	c.3338C>T	c.(3337-3339)TCT>TTT	p.S1113F		NM_198520	NP_940922	Q6ZTY8	CL063_HUMAN	hypothetical protein LOC374467	1113										skin(6)|ovary(1)	7						AGAAGTAGTTCTGTTAAAGAA	0.328		NaN											0	0	0	1	0	4	22				
ACTR6	64431	broad.mit.edu	37	12	100612202	100612202	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr12:100612202G>A	uc001thb.1	+	9	816	c.760G>A	c.(760-762)GAG>AAG	p.E254K	ACTR6_uc001thc.1_Missense_Mutation_p.E146K|ACTR6_uc001thd.1_Missense_Mutation_p.E254K|ACTR6_uc009ztu.1_Missense_Mutation_p.E59K|ACTR6_uc001the.1_Missense_Mutation_p.E172K|ACTR6_uc001thf.1_Missense_Mutation_p.E172K|uc001thg.1_Intron	NM_022496	NP_071941	Q9GZN1	ARP6_HUMAN	ARP6 actin-related protein 6 homolog	254						cytoplasm|cytoskeleton				ovary(1)	1						GCCAAGGGAAGAGATGGTGTT	0.294		NaN											0	0	0	1	0	7	55				
UTP20	27340	broad.mit.edu	37	12	101684562	101684562	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr12:101684562C>G	uc001tia.1	+	8	943	c.787C>G	c.(787-789)CAA>GAA	p.Q263E	UTP20_uc009ztz.1_Missense_Mutation_p.Q263E	NM_014503	NP_055318	O75691	UTP20_HUMAN	down-regulated in metastasis	263					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding			ovary(2)|breast(2)	4						AACAGAAACTCAACTACCATG	0.343		NaN											0	0	0	1	0	17	58				
TDG	6996	broad.mit.edu	37	12	104377149	104377149	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr12:104377149G>C	uc001tkg.2	+	7	997	c.774G>C	c.(772-774)AAG>AAC	p.K258N	TDG_uc009zuk.2_Missense_Mutation_p.K254N|TDG_uc010swi.1_Missense_Mutation_p.K115N|TDG_uc010swj.1_Missense_Mutation_p.K46N	NM_003211	NP_003202	Q13569	TDG_HUMAN	thymine-DNA glycosylase	258					depyrimidination|mismatch repair	nucleoplasm	damaged DNA binding|mismatched DNA binding|protein binding|pyrimidine-specific mismatch base pair DNA N-glycosylase activity			ovary(3)|lung(3)	6				BRCA - Breast invasive adenocarcinoma(302;0.00114)		AGCCCCATAAGATTCCAGACA	0.289		NaN						BER_DNA_glycosylases					0	0	0	1	0	7	49				
TXNRD1	7296	broad.mit.edu	37	12	104719163	104719163	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr12:104719163C>T	uc010swk.1	+	11	1286	c.1264C>T	c.(1264-1266)CAG>TAG	p.Q422*	TXNRD1_uc010swl.1_Nonsense_Mutation_p.Q272*|TXNRD1_uc010swm.1_Nonsense_Mutation_p.Q324*|TXNRD1_uc010swn.1_Nonsense_Mutation_p.Q272*|TXNRD1_uc010swo.1_Nonsense_Mutation_p.Q272*|TXNRD1_uc010swp.1_Nonsense_Mutation_p.Q234*|TXNRD1_uc010swq.1_Nonsense_Mutation_p.Q322*|TXNRD1_uc001tku.2_RNA|TXNRD1_uc009zun.2_Nonsense_Mutation_p.Q338*	NM_001093771	NP_001087240	Q16881	TRXR1_HUMAN	thioredoxin reductase 1 isoform 3	422					cell redox homeostasis|cellular lipid metabolic process|electron transport chain|nucleobase, nucleoside and nucleotide interconversion|signal transduction|transport	cytosol|nucleolus	electron carrier activity|flavin adenine dinucleotide binding|NADP binding|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity				0						AGTAGTAGCTCAGTCCACCAA	0.383		NaN											0	0	0	1	0	4	16				
TCP11L2	255394	broad.mit.edu	37	12	106729964	106729964	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr12:106729964C>G	uc001tln.2	+	8	1289	c.1115C>G	c.(1114-1116)GCT>GGT	p.A372G		NM_152772	NP_689985	Q8N4U5	T11L2_HUMAN	t-complex 11 (mouse) like 2	372										ovary(3)	3						AGGATTTCAGCTGTTCTACTT	0.433		NaN											0	0	0	1	0	14	46				
POLR3B	55703	broad.mit.edu	37	12	106770206	106770206	+	Silent	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr12:106770206G>C	uc001tlp.2	+	7	696	c.474G>C	c.(472-474)CTG>CTC	p.L158L	POLR3B_uc001tlq.2_Silent_p.L100L	NM_018082	NP_060552	Q9NW08	RPC2_HUMAN	DNA-directed RNA polymerase III B isoform 1	158					innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding			ovary(1)|central_nervous_system(1)	2						TTGCCAAACTGAACGAATGTC	0.368		NaN											0	0	0	1	0	15	59				
VPS29	51699	broad.mit.edu	37	12	110933819	110933819	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr12:110933819C>T	uc001tqy.2	-	2	253	c.193G>A	c.(193-195)GAG>AAG	p.E65K	VPS29_uc001tqw.2_RNA|VPS29_uc001tqx.2_Missense_Mutation_p.E69K|VPS29_uc001tqz.2_RNA	NM_016226	NP_057310	Q9UBQ0	VPS29_HUMAN	vacuolar protein sorting 29 isoform 1	65					protein transport	endosome membrane	metal ion binding|phosphoserine phosphatase activity				0						TACATCACCTCATCGAAGTCT	0.403		NaN											0	0	0	1	0	24	50				
FAM109A	144717	broad.mit.edu	37	12	111801049	111801049	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr12:111801049G>C	uc001tsd.3	-	3	574	c.183C>G	c.(181-183)ATC>ATG	p.I61M	FAM109A_uc009zvu.2_Nonsense_Mutation_p.S42*|FAM109A_uc001tsc.2_Missense_Mutation_p.I84M	NM_144671	NP_653272	Q8N4B1	SESQ1_HUMAN	hypothetical protein LOC144717	61	PH.				endosome organization|receptor recycling|retrograde transport, endosome to Golgi	clathrin-coated vesicle|early endosome|recycling endosome|trans-Golgi network	protein homodimerization activity				0						CCTCCAGGATGATGACGCCCA	0.701		NaN											0	0	0	1	0	13	49				
RPH3A	22895	broad.mit.edu	37	12	113304639	113304639	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr12:113304639G>A	uc010syl.1	+	7	800	c.438G>A	c.(436-438)CAG>CAA	p.Q146Q	RPH3A_uc001ttz.2_Silent_p.Q146Q|RPH3A_uc001tty.2_Silent_p.Q142Q|RPH3A_uc009zwe.1_Silent_p.Q142Q|RPH3A_uc010sym.1_Silent_p.Q97Q|RPH3A_uc001tua.2_5'Flank	NM_001143854	NP_001137326	Q9Y2J0	RP3A_HUMAN	rabphilin 3A homolog isoform 1	146	RabBD.|FYVE-type.				intracellular protein transport	cell junction|synaptic vesicle	Rab GTPase binding|transporter activity|zinc ion binding			ovary(3)|central_nervous_system(2)|skin(2)	7				BRCA - Breast invasive adenocarcinoma(302;0.00453)		GCATTGAGCAGAGGGAGGTGA	0.537		NaN											0	0	0	1	0	9	17				
DDX54	79039	broad.mit.edu	37	12	113599704	113599704	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr12:113599704C>T	uc001tup.2	-	18	2322	c.2294G>A	c.(2293-2295)CGA>CAA	p.R765Q	DDX54_uc001tuq.3_Missense_Mutation_p.R765Q	NM_024072	NP_076977	Q8TDD1	DDX54_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 54	765					estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	nucleolus	ATP binding|ATP-dependent RNA helicase activity|estrogen receptor binding|RNA binding|transcription corepressor activity			skin(2)|central_nervous_system(1)	3						ATACAGGTCTCGCTTGTAGGA	0.517		NaN											0	0	0	1	0	41	183				
GCN1L1	10985	broad.mit.edu	37	12	120575013	120575013	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr12:120575013C>T	uc001txo.2	-	50	6787	c.6774G>A	c.(6772-6774)AAG>AAA	p.K2258K		NM_006836	NP_006827	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis	2258					regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding			ovary(4)	4	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GGCTTACCTTCTTCGGGAGGC	0.607		NaN											0	0	0	1	0	32	104				
SFRS9	8683	broad.mit.edu	37	12	120907289	120907289	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr12:120907289C>T	uc001tyi.2	-	1	270	c.124G>A	c.(124-126)GAG>AAG	p.E42K	SFRS9_uc009zwy.2_Missense_Mutation_p.E42K|DYNLL1_uc001tyj.2_5'Flank	NM_003769	NP_003760	Q13242	SRSF9_HUMAN	splicing factor, arginine/serine-rich 9	42	RRM 1.				mRNA 3'-end processing|mRNA export from nucleus|mRNA splice site selection|termination of RNA polymerase II transcription	nucleoplasm	nucleotide binding|RNA binding				0	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					AGCTCGATCTCGCGGATGCGG	0.493		NaN											0	0	0	1	0	18	57				
RNF10	9921	broad.mit.edu	37	12	121002980	121002980	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr12:121002980G>C	uc001typ.3	+	11	2254	c.1771G>C	c.(1771-1773)GAG>CAG	p.E591Q	RNF10_uc010szk.1_RNA|RNF10_uc001tyq.3_Missense_Mutation_p.E502Q	NM_014868	NP_055683	Q8N5U6	RNF10_HUMAN	ring finger protein 10	591					negative regulation of Schwann cell proliferation|positive regulation of myelination|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|transcription regulatory region DNA binding|zinc ion binding			upper_aerodigestive_tract(1)|ovary(1)	2	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GGAAACCCTAGAGATGTTCTC	0.428		NaN											0	0	0	1	0	31	84				
CABP1	9478	broad.mit.edu	37	12	121098025	121098025	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr12:121098025G>C	uc001tyu.2	+	3	779	c.712G>C	c.(712-714)GAC>CAC	p.D238H	CABP1_uc001tyv.2_Missense_Mutation_p.D95H|CABP1_uc001tyw.2_Missense_Mutation_p.D35H|CABP1_uc001tyx.2_Missense_Mutation_p.D80H	NM_001033677	NP_001028849	Q9NZU7	CABP1_HUMAN	calcium binding protein 1 isoform 3	238	1.|EF-hand 1.	Magnesium.		D->A: Loss of magnesium-binding. Loss of binding to ITPRs; when associated with A- 240; A-315; A-317; A-352 and A-354.		cell cortex|cell junction|Golgi apparatus|perinuclear region of cytoplasm|postsynaptic density|postsynaptic membrane	calcium ion binding|calcium-dependent protein binding|enzyme inhibitor activity|protein binding			central_nervous_system(1)	1	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					CAGAGAATTCGACAAGGACAA	0.582		NaN											0	0	0	1	0	27	76				
MLEC	9761	broad.mit.edu	37	12	121132759	121132759	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr12:121132759G>A	uc001tyy.1	+	3	698	c.547G>A	c.(547-549)GAG>AAG	p.E183K		NM_014730	NP_055545	Q14165	MLEC_HUMAN	malectin precursor	183	Lumenal (Potential).				post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	carbohydrate binding			ovary(1)	1						TGTCCAGGGGGAGGTGTCCAC	0.478		NaN											0	0	0	1	0	47	121				
OASL	8638	broad.mit.edu	37	12	121465473	121465473	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr12:121465473C>T	uc001tzj.1	-	4	811	c.805G>A	c.(805-807)GAG>AAG	p.E269K	OASL_uc001tzk.1_Intron	NM_003733	NP_003724	Q15646	OASL_HUMAN	2'-5'-oligoadenylate synthetase-like isoform a	269					interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoplasm|nucleolus	ATP binding|DNA binding|double-stranded RNA binding|thyroid hormone receptor binding|transferase activity			skin(1)	1	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					ACTTCATACTCCAGGAGCAGG	0.438		NaN											0	0	0	1	0	34	63				
ANAPC5	51433	broad.mit.edu	37	12	121757561	121757561	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr12:121757561G>A	uc001uag.2	-	13	1698	c.1576C>T	c.(1576-1578)CAT>TAT	p.H526Y	ANAPC5_uc010szu.1_Missense_Mutation_p.H192Y|ANAPC5_uc001uae.2_Missense_Mutation_p.H90Y|ANAPC5_uc010szv.1_Missense_Mutation_p.H128Y|ANAPC5_uc001uaf.2_RNA|ANAPC5_uc001uah.2_Missense_Mutation_p.H414Y|ANAPC5_uc001uai.1_Missense_Mutation_p.H128Y	NM_016237	NP_057321	Q9UJX4	APC5_HUMAN	anaphase-promoting complex subunit 5 isoform a	526	TPR 2.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G2/M transition of mitotic cell cycle|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm	protein phosphatase binding|ubiquitin-protein ligase activity			skin(3)|breast(2)|kidney(1)	6	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					TCAGCCAAATGATATTTGCCA	0.333		NaN											0	0	0	1	0	9	16				
WDR66	144406	broad.mit.edu	37	12	122441644	122441644	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr12:122441644G>A	uc009zxk.2	+	22	3566	c.3424G>A	c.(3424-3426)GAA>AAA	p.E1142K		NM_144668	NP_653269	Q8TBY9	WDR66_HUMAN	WD repeat domain 66	1142							calcium ion binding			ovary(1)|skin(1)	2	all_neural(191;0.0496)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000155)|Epithelial(86;0.000634)|BRCA - Breast invasive adenocarcinoma(302;0.248)		AACCATTTCAGAAGATTCCGG	0.433		NaN											0	0	0	1	0	16	58				
ZCCHC8	55596	broad.mit.edu	37	12	122983381	122983381	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr12:122983381G>C	uc001ucn.2	-	2	366	c.235C>G	c.(235-237)CGA>GGA	p.R79G	ZCCHC8_uc009zxp.2_5'UTR|ZCCHC8_uc009zxq.2_5'UTR	NM_017612	NP_060082	Q6NZY4	ZCHC8_HUMAN	zinc finger, CCHC domain containing 8	79	Potential.					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)		TACCTCGGTCGAGTCAGAATG	0.294		NaN											0	0	0	1	0	5	14				
ABCB9	23457	broad.mit.edu	37	12	123424766	123424766	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr12:123424766C>T	uc001udm.3	-	9	1945	c.1635G>A	c.(1633-1635)AAG>AAA	p.K545K	ABCB9_uc010tai.1_Silent_p.K152K|ABCB9_uc009zxr.2_Intron|ABCB9_uc001udo.3_Silent_p.K502K|ABCB9_uc010taj.1_Silent_p.K482K|ABCB9_uc001udp.2_Silent_p.K545K|ABCB9_uc001udq.2_Silent_p.K264K|ABCB9_uc001udr.2_Silent_p.K545K	NM_019625	NP_062571	Q9NP78	ABCB9_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP),	545	ABC transporter.|ATP (Potential).				positive regulation of T cell mediated cytotoxicity|protein transport	lysosomal membrane|plasma membrane|TAP complex	ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|protein homodimerization activity|TAP1 binding|TAP2 binding|tapasin binding				0	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.84e-05)|Epithelial(86;0.000152)|BRCA - Breast invasive adenocarcinoma(302;0.111)		CACAGGAGCTCTTCCCACTGC	0.627		NaN											0	0	0	1	0	11	48				
SBNO1	55206	broad.mit.edu	37	12	123821011	123821011	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr12:123821011C>T	uc010tap.1	-	5	679	c.679G>A	c.(679-681)GAA>AAA	p.E227K	SBNO1_uc010tao.1_Missense_Mutation_p.E226K|SBNO1_uc010taq.1_Intron|SBNO1_uc001uet.2_Missense_Mutation_p.E227K|SBNO1_uc001ueu.2_Missense_Mutation_p.E226K|SBNO1_uc001uev.2_Missense_Mutation_p.E225K|SBNO1_uc009zxy.1_Missense_Mutation_p.E192K	NM_018183	NP_060653	A3KN83	SBNO1_HUMAN	sno, strawberry notch homolog 1	227							ATP binding|DNA binding|hydrolase activity			breast(5)|skin(2)|ovary(1)|kidney(1)	9	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)		tcctctggttcatcatcttct	0.343		NaN											0	0	0	1	0	5	28				
SETD8	387893	broad.mit.edu	37	12	123889520	123889520	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr12:123889520C>T	uc001uew.2	+	7	789	c.747C>T	c.(745-747)CTC>CTT	p.L249L	SETD8_uc001uex.2_Silent_p.L184L	NM_020382	NP_065115	Q9NQR1	SETD8_HUMAN	SET domain-containing 8	290	SET.				cell division|mitosis|negative regulation of transcription from RNA polymerase II promoter|peptidyl-lysine monomethylation|regulation of DNA damage response, signal transduction by p53 class mediator|transcription, DNA-dependent	chromosome|nucleus	histone-lysine N-methyltransferase activity|p53 binding|transcription corepressor activity				0	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.00101)|Epithelial(86;0.00425)		ACGGGGACCTCATCGAGATCA	0.537		NaN											0	0	0	1	0	17	65				
DNAH10	196385	broad.mit.edu	37	12	124293452	124293452	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr12:124293452C>T	uc001uft.3	+	18	2767	c.2742C>T	c.(2740-2742)ATC>ATT	p.I914I	DNAH10_uc010tav.1_Silent_p.I456I|DNAH10_uc010taw.1_Silent_p.I399I	NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	914	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(3)|skin(2)|central_nervous_system(1)	6	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		CAAATGAGATCGACAAGATGT	0.468		NaN											0	0	0	1	0	78	266				
EP400	57634	broad.mit.edu	37	12	132502203	132502203	+	Silent	SNP	G	G	A	rs141645142		TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr12:132502203G>A	uc001ujn.2	+	19	4082	c.4047G>A	c.(4045-4047)GCG>GCA	p.A1349A	EP400_uc001ujl.2_Silent_p.A1348A|EP400_uc001ujm.2_Silent_p.A1349A	NM_015409	NP_056224	Q96L91	EP400_HUMAN	E1A binding protein p400	1385					histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			central_nervous_system(4)|ovary(3)|breast(3)|skin(2)	12	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		CCTACGTGGCGGGGCCACTGG	0.582		NaN											0	0	0	1	0	22	77				
TUBA3C	7278	broad.mit.edu	37	13	19748188	19748188	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr13:19748188G>A	uc009zzj.2	-	5	1217	c.1168C>T	c.(1168-1170)CGC>TGC	p.R390C		NM_006001	NP_005992	Q13748	TBA3C_HUMAN	tubulin, alpha 3c	390					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			ovary(3)|skin(2)	5		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)		TGGTCCAGGCGAGCCCAGGCC	0.647		NaN											0	0	0	1	0	44	175				
ZMYM5	9205	broad.mit.edu	37	13	20413042	20413042	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr13:20413042G>A	uc010tcn.1	-	5	935	c.670C>T	c.(670-672)CGT>TGT	p.R224C	ZMYM5_uc001umm.1_Missense_Mutation_p.R48C|ZMYM5_uc001umn.2_Missense_Mutation_p.R224C|ZMYM5_uc001umo.2_Intron	NM_001142684	NP_001136156	Q9UJ78	ZMYM5_HUMAN	zinc finger protein 237 isoform 3	224						nucleus	zinc ion binding				0		all_cancers(29;2.96e-22)|all_epithelial(30;3.76e-20)|all_lung(29;4.38e-20)|Lung NSC(5;5.8e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.61e-05)|Epithelial(112;4.89e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00171)|Lung(94;0.00942)|LUSC - Lung squamous cell carcinoma(192;0.0431)		TTCTGCTTACGAAGTAAGGCC	0.423		NaN											0	0	0	1	0	48	123				
N6AMT2	221143	broad.mit.edu	37	13	21331662	21331662	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr13:21331662C>G	uc001uno.1	-	2	157	c.76G>C	c.(76-78)GAG>CAG	p.E26Q	N6AMT2_uc009zzr.1_Missense_Mutation_p.E26Q|N6AMT2_uc001unp.2_RNA	NM_174928	NP_777588	Q8WVE0	N6MT2_HUMAN	N-6 adenine-specific DNA methyltransferase 2	26							methyltransferase activity|nucleic acid binding				0		all_cancers(29;5.91e-19)|all_epithelial(30;1.42e-15)|all_lung(29;5.9e-14)|Lung SC(185;0.0367)		all cancers(112;0.000234)|Epithelial(112;0.000471)|OV - Ovarian serous cystadenocarcinoma(117;0.0111)|Lung(94;0.0161)|LUSC - Lung squamous cell carcinoma(192;0.0431)		TGCTTTTGCTCAGCATAAAAT	0.408		NaN											0	0	0	1	0	21	59				
SACS	26278	broad.mit.edu	37	13	23913064	23913064	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr13:23913064G>C	uc001uon.2	-	10	5540	c.4951C>G	c.(4951-4953)CAA>GAA	p.Q1651E	SACS_uc001uoo.2_Missense_Mutation_p.Q1504E|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN	sacsin	1651					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		GCTTCCTGTTGAGTTCTAAAG	0.388		NaN											0	0	0	1	0	13	50				
GSX1	219409	broad.mit.edu	37	13	28367224	28367224	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr13:28367224C>T	uc001urr.1	+	1	445	c.397C>T	c.(397-399)CAC>TAC	p.H133Y		NM_145657	NP_663632	Q9H4S2	GSX1_HUMAN	GS homeobox 1	133					positive regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1		Lung SC(185;0.0161)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	GBM - Glioblastoma multiforme(144;0.0402)|all cancers(112;0.0404)|OV - Ovarian serous cystadenocarcinoma(117;0.197)		CAGGCAGTTCCACTGCATCTC	0.697		NaN											0	0	0	1	0	6	23				
CSNK1A1L	122011	broad.mit.edu	37	13	37678589	37678589	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr13:37678589C>G	uc001uwm.1	-	1	1213	c.805G>C	c.(805-807)GAG>CAG	p.E269Q		NM_145203	NP_660204	Q8N752	KC1AL_HUMAN	casein kinase 1, alpha 1-like	269	Protein kinase.				Wnt receptor signaling pathway	cytoplasm	ATP binding|protein serine/threonine kinase activity			large_intestine(1)	1		Lung NSC(96;7.97e-05)|Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.109)		all cancers(112;3.58e-07)|Epithelial(112;1.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00695)|BRCA - Breast invasive adenocarcinoma(63;0.0117)|GBM - Glioblastoma multiforme(144;0.0407)		GGGACTTCCTCAAAGCGCAGC	0.443		NaN											0	0	0	1	0	38	112				
KIAA0564	23078	broad.mit.edu	37	13	42335283	42335283	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr13:42335283C>G	uc001uyj.2	-	21	2477	c.2407G>C	c.(2407-2409)GAA>CAA	p.E803Q	KIAA0564_uc001uyk.2_Missense_Mutation_p.E803Q	NM_015058	NP_055873	A3KMH1	K0564_HUMAN	hypothetical protein LOC23078 isoform a	803						extracellular region	ATP binding|ATPase activity			ovary(3)|upper_aerodigestive_tract(1)|kidney(1)|skin(1)	6		Lung NSC(96;4.61e-06)|Prostate(109;0.0167)|Lung SC(185;0.0262)|Breast(139;0.0854)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000368)|GBM - Glioblastoma multiforme(144;0.0033)|BRCA - Breast invasive adenocarcinoma(63;0.0969)		TGAATATATTCTCGGGGTCTG	0.348		NaN											0	0	0	1	0	17	84				
TPT1	7178	broad.mit.edu	37	13	45912831	45912831	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr13:45912831C>T	uc001uzy.1	-	5	573	c.480G>A	c.(478-480)ATG>ATA	p.M160I	TPT1_uc001uzz.1_Missense_Mutation_p.M126I|SNORA31_uc001vaa.1_5'Flank|LOC100190939_uc010tfr.1_5'Flank|LOC100190939_uc001vac.2_5'Flank	NM_003295	NP_003286	P13693	TCTP_HUMAN	tumor protein, translationally-controlled 1	160					anti-apoptosis|response to virus	extracellular space|multivesicular body	calcium ion binding|protein binding				0		Lung NSC(96;0.00227)|Prostate(109;0.00578)|Breast(56;0.0192)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000232)		TAAAGAAAATCATATATGGGG	0.338		NaN											0	0	0	1	0	15	42				
TPT1	7178	broad.mit.edu	37	13	45914250	45914250	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr13:45914250C>G	uc001uzy.1	-	3	265	c.172G>C	c.(172-174)GAG>CAG	p.E58Q	TPT1_uc001uzz.1_Missense_Mutation_p.E24Q|SNORA31_uc001vaa.1_5'Flank|TPT1_uc010tfp.1_3'UTR|LOC100190939_uc010tfr.1_5'Flank|LOC100190939_uc001vac.2_5'Flank	NM_003295	NP_003286	P13693	TCTP_HUMAN	tumor protein, translationally-controlled 1	58					anti-apoptosis|response to virus	extracellular space|multivesicular body	calcium ion binding|protein binding				0		Lung NSC(96;0.00227)|Prostate(109;0.00578)|Breast(56;0.0192)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000232)		CCTTCGCCCTCGGGGCCTTCA	0.448		NaN											0	0	0	1	0	22	81				
CPB2	1361	broad.mit.edu	37	13	46658451	46658451	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr13:46658451C>T	uc001vaw.2	-	3	245	c.178G>A	c.(178-180)GAC>AAC	p.D60N	uc001vau.1_Intron|uc001vav.1_Intron|CPB2_uc001vax.2_Missense_Mutation_p.D60N	NM_001872	NP_001863	Q96IY4	CBPB2_HUMAN	plasma carboxypeptidase B2 isoform a	60					blood coagulation|fibrinolysis|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			ovary(1)|skin(1)	2		Lung NSC(96;4.21e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|all_neural(104;0.235)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.44e-05)		ACAATAAGGTCAGCTGTTACC	0.378		NaN											0	0	0	1	0	24	53				
ESD	2098	broad.mit.edu	37	13	47356852	47356852	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr13:47356852C>T	uc001vbn.2	-	6	514	c.331G>A	c.(331-333)GAA>AAA	p.E111K	ESD_uc001vbo.2_Missense_Mutation_p.E111K|ESD_uc001vbp.1_5'Flank	NM_001984	NP_001975	P10768	ESTD_HUMAN	esterase D/formylglutathione hydrolase	111						cytoplasmic membrane-bounded vesicle	carboxylesterase activity|S-formylglutathione hydrolase activity			ovary(1)	1		all_lung(13;3.54e-08)|Lung NSC(96;9.1e-06)|Breast(56;0.000148)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556)		GBM - Glioblastoma multiforme(144;2.66e-05)	Glutathione(DB00143)	CAAGGATCTTCAGTGGCATCA	0.378		NaN											0	0	0	1	0	18	75				
FNDC3A	22862	broad.mit.edu	37	13	49710506	49710506	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr13:49710506G>C	uc001vcm.2	+	6	834	c.529G>C	c.(529-531)GAA>CAA	p.E177Q	FNDC3A_uc001vcl.1_Missense_Mutation_p.E177Q|FNDC3A_uc001vcn.2_Missense_Mutation_p.E177Q|FNDC3A_uc001vco.2_RNA|FNDC3A_uc001vcp.1_Missense_Mutation_p.E121Q|FNDC3A_uc001vcq.2_Missense_Mutation_p.E121Q	NM_001079673	NP_001073141	Q9Y2H6	FND3A_HUMAN	fibronectin type III domain containing 3A	177						Golgi membrane|integral to membrane				lung(2)	2		all_lung(13;7.44e-08)|Lung NSC(96;4.08e-06)|Breast(56;0.000111)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;2.94e-09)		CTTTAGAGATGAACGATCTAG	0.378		NaN											0	0	0	1	0	12	40				
KCNRG	283518	broad.mit.edu	37	13	50590174	50590174	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr13:50590174C>G	uc001vdu.2	+	1	785	c.545C>G	c.(544-546)TCT>TGT	p.S182C	DLEU2_uc001vdn.1_Intron|DLEU2_uc001vdo.1_Intron|KCNRG_uc001vdt.2_Missense_Mutation_p.S182C|TRIM13_uc001vdp.1_3'UTR|TRIM13_uc001vdq.1_3'UTR|TRIM13_uc001vdr.1_3'UTR|TRIM13_uc001vds.1_3'UTR	NM_173605	NP_775876	Q8N5I3	KCNRG_HUMAN	potassium channel regulator isoform 1	182						voltage-gated potassium channel complex	identical protein binding|voltage-gated potassium channel activity				0		Acute lymphoblastic leukemia(7;3.41e-06)|Lung NSC(96;3.08e-05)|Breast(56;9.7e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;1.48e-10)|COAD - Colon adenocarcinoma(199;0.204)		CAGTGTGGTTCTGACAGCACT	0.428		NaN											0	0	0	1	0	14	47				
PCDH17	27253	broad.mit.edu	37	13	58207697	58207697	+	Silent	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr13:58207697C>G	uc001vhq.1	+	1	1909	c.1017C>G	c.(1015-1017)GTC>GTG	p.V339V	PCDH17_uc010aec.1_Silent_p.V339V	NM_001040429	NP_001035519	O14917	PCD17_HUMAN	protocadherin 17 precursor	339	Extracellular (Potential).|Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	7		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		AAGTCACGGTCAAGCTCATCG	0.642		NaN											0	0	0	1	0	42	108				
DIAPH3	81624	broad.mit.edu	37	13	60584692	60584692	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr13:60584692C>A	uc001vht.2	-	8	1102	c.883G>T	c.(883-885)GTA>TTA	p.V295L	DIAPH3_uc001vhu.2_Missense_Mutation_p.V32L|DIAPH3_uc001vhw.1_Missense_Mutation_p.V284L|DIAPH3_uc010aed.1_Missense_Mutation_p.V249L|DIAPH3_uc010aee.1_Missense_Mutation_p.V225L|uc001vhx.2_5'Flank|uc001vhy.2_5'Flank	NM_001042517	NP_001035982	Q9NSV4	DIAP3_HUMAN	diaphanous homolog 3 isoform a	295	GBD/FH3.				actin cytoskeleton organization		actin binding|Rho GTPase binding			ovary(2)	2		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;2.77e-05)		ACAATGCATACCGCAGAGAGA	0.368		NaN											1	0	0.150653	1	0.15101	4	16				
KLHL1	57626	broad.mit.edu	37	13	70681477	70681477	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr13:70681477G>A	uc001vip.2	-	1	1149	c.355C>T	c.(355-357)CTC>TTC	p.L119F	KLHL1_uc010thm.1_Missense_Mutation_p.L119F|ATXN8OS_uc010aej.1_RNA	NM_020866	NP_065917	Q9NR64	KLHL1_HUMAN	kelch-like 1 protein	119					actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding				0		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		ACGTAGAAGAGAGTCCTGGCT	0.562		NaN											0	0	0	1	0	29	75				
C13orf34	79866	broad.mit.edu	37	13	73321094	73321094	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr13:73321094G>C	uc001viv.1	+	10	1446	c.1327G>C	c.(1327-1329)GAT>CAT	p.D443H	C13orf34_uc010thq.1_Missense_Mutation_p.D218H|C13orf34_uc010aen.1_Missense_Mutation_p.D518H|C13orf34_uc010thr.1_Missense_Mutation_p.D373H|C13orf34_uc001viw.1_Missense_Mutation_p.D392H	NM_024808	NP_079084	Q6PGQ7	BORA_HUMAN	aurora borealis	443					cell division|mitosis|regulation of mitosis|regulation of mitotic spindle organization|regulation of protein localization		protein kinase binding				0		Breast(118;0.0735)		GBM - Glioblastoma multiforme(99;0.000227)		AGAGATAGCAGATGAGACCAC	0.413		NaN											0	0	0	1	0	24	87				
LMO7	4008	broad.mit.edu	37	13	76408454	76408454	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr13:76408454G>A	uc001vjv.2	+	14	3218	c.2458G>A	c.(2458-2460)GAG>AAG	p.E820K	LMO7_uc010thv.1_Missense_Mutation_p.E771K|LMO7_uc001vjt.1_Missense_Mutation_p.E719K|LMO7_uc010thw.1_Missense_Mutation_p.E670K|LMO7_uc001vjw.1_Missense_Mutation_p.E726K	NM_015842	NP_056667	Q8WWI1	LMO7_HUMAN	LIM domain only 7 isoform 2	1105	PDZ.					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)		AAAAGAGTGGGAGGAAGCCAT	0.418		NaN											0	0	0	1	0	29	71				
MYCBP2	23077	broad.mit.edu	37	13	77736073	77736073	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr13:77736073C>G	uc001vkf.2	-	45	6542	c.6451G>C	c.(6451-6453)GAC>CAC	p.D2151H	MYCBP2_uc010aev.2_Missense_Mutation_p.D1555H	NM_015057	NP_055872	O75592	MYCB2_HUMAN	MYC binding protein 2	2151					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)		ATTTCAAGGTCTTCTTCTAAT	0.294		NaN											0	0	0	1	0	11	60				
FARP1	10160	broad.mit.edu	37	13	99037049	99037049	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr13:99037049C>T	uc001vnj.2	+	7	898	c.562C>T	c.(562-564)CAG>TAG	p.Q188*	FARP1_uc001vnh.2_Nonsense_Mutation_p.Q188*	NM_005766	NP_005757	Q9Y4F1	FARP1_HUMAN	FERM, RhoGEF, and pleckstrin domain protein 1	188	FERM.				regulation of Rho protein signal transduction	cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity			breast(2)	2	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			ATACATACCTCAGCAAGACGC	0.418		NaN											0	0	0	1	0	8	37				
DOCK9	23348	broad.mit.edu	37	13	99520266	99520266	+	Splice_Site	SNP	C	C	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr13:99520266C>A	uc001vnt.2	-	29	3149	c.3094_splice	c.e29-1	p.R1032_splice	DOCK9_uc001vnw.2_Splice_Site_p.R1031_splice|DOCK9_uc001vnv.1_Splice_Site|DOCK9_uc010tir.1_Splice_Site_p.R1032_splice|DOCK9_uc010tis.1_Splice_Site_p.R1031_splice|DOCK9_uc010tit.1_Splice_Site_p.R1032_splice|DOCK9_uc010tiq.1_Splice_Site|DOCK9_uc010afu.1_Splice_Site_p.R878_splice	NM_015296	NP_056111	Q9BZ29	DOCK9_HUMAN	dedicator of cytokinesis 9 isoform a						blood coagulation	cytosol|endomembrane system|membrane	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			central_nervous_system(1)	1	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					TGAAACATCTCTGTGGAGGAA	0.408		NaN											1	0	0.0215528	1	0.0216679	4	19				
TM9SF2	9375	broad.mit.edu	37	13	100181787	100181787	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr13:100181787G>A	uc001voj.1	+	4	533	c.400G>A	c.(400-402)GAA>AAA	p.E134K	TM9SF2_uc010afz.1_Intron	NM_004800	NP_004791	Q99805	TM9S2_HUMAN	transmembrane 9 superfamily member 2 precursor	134	Lumenal (Potential).				transport	endosome membrane|integral to plasma membrane				ovary(1)	1	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.218)					AGAGAAAGCTGAAGACAAACA	0.313		NaN											0	0	0	1	0	22	31				
NALCN	259232	broad.mit.edu	37	13	101997647	101997647	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr13:101997647C>G	uc001vox.1	-	7	958	c.769G>C	c.(769-771)GAG>CAG	p.E257Q	NALCN_uc001voy.2_Intron|NALCN_uc001voz.2_Missense_Mutation_p.E257Q|NALCN_uc001vpa.2_Missense_Mutation_p.E257Q	NM_052867	NP_443099	Q8IZF0	NALCN_HUMAN	voltage gated channel like 1	257	Extracellular (Potential).					integral to membrane	sodium channel activity|voltage-gated ion channel activity			ovary(8)|breast(4)|skin(2)|pancreas(1)|central_nervous_system(1)	16	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TAGCCCAGCTCTTGCCTGCTA	0.418		NaN											0	0	0	1	0	45	107				
UPF3A	65110	broad.mit.edu	37	13	115047559	115047559	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr13:115047559C>T	uc001vup.2	+	2	308	c.271C>T	c.(271-273)CTG>TTG	p.L91L	UPF3A_uc010tkn.1_Silent_p.L91L|UPF3A_uc001vuq.2_Silent_p.L91L|UPF3A_uc001vus.2_RNA|UPF3A_uc001vur.2_RNA	NM_023011	NP_075387	Q9H1J1	REN3A_HUMAN	UPF3 regulator of nonsense transcripts homolog A	91	Required for interaction with UPF2.				mRNA transport|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation	cytoplasm|nucleus|plasma membrane	nucleocytoplasmic transporter activity|nucleotide binding|protein binding|RNA binding			skin(1)	1	Lung NSC(43;0.00299)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0191)|all_epithelial(44;0.00716)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.238)	BRCA - Breast invasive adenocarcinoma(86;0.0886)	OV - Ovarian serous cystadenocarcinoma(48;0.195)|Epithelial(10;0.2)		GCTGCGCCCGCTGCCAGCACA	0.731		NaN											0	0	0	1	0	3	11				
OR11H12	440153	broad.mit.edu	37	14	19378098	19378098	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr14:19378098C>T	uc010tkp.1	+	1	505	c.505C>T	c.(505-507)CTG>TTG	p.L169L		NM_001013354	NP_001013372	B2RN74	O11HC_HUMAN	olfactory receptor, family 11, subfamily H,	169	Helical; Name=4; (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)		TTGTGGATTTCTGTGGTTCCT	0.483		NaN											0	0	0	1	0	11	274				
OR4K2	390431	broad.mit.edu	37	14	20344666	20344666	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr14:20344666G>C	uc001vwh.1	+	1	240	c.240G>C	c.(238-240)AAG>AAC	p.K80N		NM_001005501	NP_001005501	Q8NGD2	OR4K2_HUMAN	olfactory receptor, family 4, subfamily K,	80	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|skin(2)	4	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CCACCCCAAAGATGATTACAG	0.413		NaN											0	0	0	1	0	37	417				
OR4K2	390431	broad.mit.edu	37	14	20345153	20345153	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr14:20345153C>T	uc001vwh.1	+	1	727	c.727C>T	c.(727-729)CAT>TAT	p.H243Y		NM_001005501	NP_001005501	Q8NGD2	OR4K2_HUMAN	olfactory receptor, family 4, subfamily K,	243	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|skin(2)	4	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TTGTACAGCTCATTTCATTGT	0.378		NaN											0	0	0	1	0	28	214				
SUPT16H	11198	broad.mit.edu	37	14	21822578	21822578	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr14:21822578C>T	uc001wao.2	-	23	3121	c.2782G>A	c.(2782-2784)GAG>AAG	p.E928K	SUPT16H_uc001wan.2_Missense_Mutation_p.E72K	NM_007192	NP_009123	Q9Y5B9	SP16H_HUMAN	chromatin-specific transcription elongation	928	Glu-rich (acidic).				DNA repair|DNA replication|nucleosome disassembly|positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	chromosome|nucleoplasm	GTP binding				0	all_cancers(95;0.00115)		Epithelial(56;1.62e-06)|all cancers(55;1.49e-05)	GBM - Glioblastoma multiforme(265;0.0159)		ACCTCACCCTCAGGCTCCAGG	0.478		NaN											0	0	0	1	0	8	52				
CDH24	64403	broad.mit.edu	37	14	23524350	23524350	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr14:23524350G>A	uc001wil.2	-	3	674	c.414C>T	c.(412-414)ATC>ATT	p.I138I	CDH24_uc010akf.2_Silent_p.I138I|CDH24_uc001win.3_Silent_p.I138I	NM_022478	NP_071923	Q86UP0	CAD24_HUMAN	cadherin-like 24 isoform 1	138	Cadherin 1.|Extracellular (Potential).				adherens junction organization|cell junction assembly|cell-cell adhesion|homophilic cell adhesion	cell-cell junction|cell-cell junction|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|delta-catenin binding			central_nervous_system(1)	1	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.00654)		CTTGCACTTTGATGATGAACT	0.587		NaN									OREG0022594	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	1	0	39	136				
ACIN1	22985	broad.mit.edu	37	14	23548985	23548985	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr14:23548985G>C	uc001wit.3	-	6	2061	c.1733C>G	c.(1732-1734)TCT>TGT	p.S578C	ACIN1_uc001wis.3_Missense_Mutation_p.S260C|ACIN1_uc010akg.2_Missense_Mutation_p.S578C|ACIN1_uc010tnj.1_Missense_Mutation_p.S538C	NM_014977	NP_055792	Q9UKV3	ACINU_HUMAN	apoptotic chromatin condensation inducer 1	578	Ser-rich.				apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation	cytosol	ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding			ovary(2)|large_intestine(1)|skin(1)	4	all_cancers(95;1.36e-05)			GBM - Glioblastoma multiforme(265;0.00816)		GGACCGGCTAGAGGATGAATC	0.498		NaN											0	0	0	1	0	26	131				
ACIN1	22985	broad.mit.edu	37	14	23549444	23549444	+	Missense_Mutation	SNP	G	G	C	rs151153498		TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr14:23549444G>C	uc001wit.3	-	6	1602	c.1274C>G	c.(1273-1275)TCT>TGT	p.S425C	ACIN1_uc001wis.3_Missense_Mutation_p.S107C|ACIN1_uc010akg.2_Missense_Mutation_p.S425C|ACIN1_uc010tnj.1_Missense_Mutation_p.S385C	NM_014977	NP_055792	Q9UKV3	ACINU_HUMAN	apoptotic chromatin condensation inducer 1	425	Glu-rich.				apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation	cytosol	ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding			ovary(2)|large_intestine(1)|skin(1)	4	all_cancers(95;1.36e-05)			GBM - Glioblastoma multiforme(265;0.00816)		AGGTGGTGGAGAAGATGCTTC	0.517		NaN											0	0	0	1	0	20	65				
MYH6	4624	broad.mit.edu	37	14	23863393	23863393	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr14:23863393C>G	uc001wjv.2	-	21	2636	c.2569G>C	c.(2569-2571)GAG>CAG	p.E857Q		NM_002471	NP_002462	P13533	MYH6_HUMAN	myosin heavy chain 6	857	Potential.				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			pancreas(2)|ovary(1)|skin(1)	4	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		CGCCCGAACTCTTCCTTCATG	0.567		NaN											0	0	0	1	0	40	125				
MYH6	4624	broad.mit.edu	37	14	23865621	23865621	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr14:23865621G>A	uc001wjv.2	-	20	2368	c.2301C>T	c.(2299-2301)TTC>TTT	p.F767F		NM_002471	NP_002462	P13533	MYH6_HUMAN	myosin heavy chain 6	767	Actin-binding.|Myosin head-like.				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			pancreas(2)|ovary(1)|skin(1)	4	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		GCCCTGCCTTGAAGAACACCT	0.637		NaN											0	0	0	1	0	22	50				
MYH7	4625	broad.mit.edu	37	14	23899054	23899054	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr14:23899054G>A	uc001wjx.2	-	12	1174	c.1068C>T	c.(1066-1068)ATC>ATT	p.I356I		NM_000257	NP_000248	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	356	Myosin head-like.				adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			ovary(3)|skin(1)	4	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		CAAAGTGCATGATGGCGCCTG	0.562		NaN											0	0	0	1	0	34	99				
DHRS4	10901	broad.mit.edu	37	14	24424331	24424331	+	Silent	SNP	G	G	A	rs142533242		TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr14:24424331G>A	uc001wla.2	+	2	249	c.216G>A	c.(214-216)GCG>GCA	p.A72A	C14orf167_uc001wkz.2_5'Flank|C14orf167_uc001wky.2_5'Flank|C14orf167_uc001wkx.2_5'Flank|C14orf167_uc010akx.1_5'Flank|DHRS4_uc010aky.2_Silent_p.A72A|DHRS4_uc001wlb.2_Silent_p.A72A|DHRS4_uc010akz.2_Silent_p.A72A|DHRS4_uc001wlc.3_Silent_p.A72A|DHRS4L2_uc001wld.3_Silent_p.A72A|DHRS4L2_uc001wle.3_Silent_p.A72A	NM_021004	NP_066284	Q9BTZ2	DHRS4_HUMAN	peroxisomal short-chain alcohol dehydrogenase	72						mitochondrion|nuclear membrane|peroxisome	binding|carbonyl reductase (NADPH) activity			ovary(1)	1				GBM - Glioblastoma multiforme(265;0.00962)	Vitamin A(DB00162)	TGGACCAGGCGGTGGCCACGC	0.692		NaN											0	0	0	1	0	36	112				
ADCY4	196883	broad.mit.edu	37	14	24800506	24800506	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr14:24800506C>G	uc001wov.2	-	5	732	c.726G>C	c.(724-726)GAG>GAC	p.E242D	ADCY4_uc001wow.2_Missense_Mutation_p.E242D|ADCY4_uc010toh.1_5'UTR|ADCY4_uc001wox.2_Missense_Mutation_p.E242D|ADCY4_uc001woy.2_Missense_Mutation_p.E242D	NM_139247	NP_640340	Q8NFM4	ADCY4_HUMAN	adenylate cyclase 4	242	Cytoplasmic (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding|protein binding			ovary(1)|lung(1)|pancreas(1)	3				GBM - Glioblastoma multiforme(265;0.0192)		GTGCCATGATCTCTGCCTTCA	0.552		NaN											0	0	0	1	0	30	92				
ADCY4	196883	broad.mit.edu	37	14	24801006	24801006	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr14:24801006C>T	uc001wov.2	-	4	663	c.657G>A	c.(655-657)GAG>GAA	p.E219E	ADCY4_uc001wow.2_Silent_p.E219E|ADCY4_uc010toh.1_5'UTR|ADCY4_uc001wox.2_Silent_p.E219E|ADCY4_uc001woy.2_Silent_p.E219E	NM_139247	NP_640340	Q8NFM4	ADCY4_HUMAN	adenylate cyclase 4	219	Cytoplasmic (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding|protein binding			ovary(1)|lung(1)|pancreas(1)	3				GBM - Glioblastoma multiforme(265;0.0192)		GGTGCTTCTTCTCGGTGTCCA	0.458		NaN											0	0	0	1	0	11	27				
NYNRIN	57523	broad.mit.edu	37	14	24880396	24880396	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr14:24880396G>A	uc001wpf.3	+	5	2847	c.2529G>A	c.(2527-2529)AAG>AAA	p.K843K		NM_025081	NP_079357	Q9P2P1	NYNRI_HUMAN	hypothetical protein LOC57523	843					DNA integration	integral to membrane	DNA binding			ovary(2)|central_nervous_system(1)	3						AGCTGAAGAAGAACCGGAGGG	0.592		NaN									OREG0022626	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	1	0	40	144				
HECTD1	25831	broad.mit.edu	37	14	31572252	31572252	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr14:31572252G>C	uc001wrc.1	-	41	7909	c.7420C>G	c.(7420-7422)CCA>GCA	p.P2474A	HECTD1_uc001wra.1_Missense_Mutation_p.P600A|HECTD1_uc001wrb.1_Missense_Mutation_p.P600A	NM_015382	NP_056197	Q9ULT8	HECD1_HUMAN	HECT domain containing 1	2474	HECT.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity			ovary(3)|large_intestine(1)|lung(1)	5	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		TTCTCCATTGGAAAAACTTTA	0.358		NaN											0	0	0	1	0	15	47				
HECTD1	25831	broad.mit.edu	37	14	31602831	31602831	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr14:31602831C>A	uc001wrc.1	-	23	4118	c.3629G>T	c.(3628-3630)TGG>TTG	p.W1210L	HECTD1_uc001wrd.1_Missense_Mutation_p.W725L	NM_015382	NP_056197	Q9ULT8	HECD1_HUMAN	HECT domain containing 1	1210					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity			ovary(3)|large_intestine(1)|lung(1)	5	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		CACATGTCTCCACCCTTGTTT	0.363		NaN											1	0	0.00307968	1	0.00310906	8	38				
HECTD1	25831	broad.mit.edu	37	14	31602844	31602844	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr14:31602844C>G	uc001wrc.1	-	23	4105	c.3616G>C	c.(3616-3618)GAG>CAG	p.E1206Q	HECTD1_uc001wrd.1_Missense_Mutation_p.E721Q	NM_015382	NP_056197	Q9ULT8	HECD1_HUMAN	HECT domain containing 1	1206					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity			ovary(3)|large_intestine(1)|lung(1)	5	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		CCTTGTTTCTCATCCTTTGGT	0.363		NaN											0	0	0	1	0	7	24				
HEATR5A	25938	broad.mit.edu	37	14	31849763	31849763	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr14:31849763C>A	uc001wrf.3	-	5	816	c.739G>T	c.(739-741)GAT>TAT	p.D247Y	HEATR5A_uc010ami.2_Missense_Mutation_p.D145Y|HEATR5A_uc001wrg.1_Missense_Mutation_p.D129Y|HEATR5A_uc010tpk.1_Missense_Mutation_p.D540Y	NM_015473	NP_056288	Q86XA9	HTR5A_HUMAN	HEAT repeat containing 5A	534							binding			ovary(1)	1	Hepatocellular(127;0.0877)|Breast(36;0.137)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0059)		CACAGCAAATCCTCTGCTAAT	0.358		NaN											1	0	2.0095e-06	1	2.06813e-06	6	17				
MIPOL1	145282	broad.mit.edu	37	14	37777576	37777576	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr14:37777576G>A	uc001wuc.2	+	10	1183	c.680G>A	c.(679-681)AGA>AAA	p.R227K	MIPOL1_uc010amr.2_Intron|MIPOL1_uc001wub.3_Missense_Mutation_p.R196K|MIPOL1_uc001wud.2_Missense_Mutation_p.R227K|MIPOL1_uc010ams.2_Missense_Mutation_p.R227K|MIPOL1_uc001wue.2_Missense_Mutation_p.R196K|MIPOL1_uc010amt.2_Missense_Mutation_p.R46K	NM_138731	NP_620059	Q8TD10	MIPO1_HUMAN	mirror-image polydactyly 1	227										ovary(1)|central_nervous_system(1)	2	Breast(36;0.119)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;6.03e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.047)|all cancers(34;0.0953)|LUSC - Lung squamous cell carcinoma(13;0.0975)|BRCA - Breast invasive adenocarcinoma(188;0.196)	GBM - Glioblastoma multiforme(112;0.0358)		TTACTGAACAGAATAAACAAT	0.308		NaN											0	0	0	1	0	20	50				
SSTR1	6751	broad.mit.edu	37	14	38679239	38679239	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr14:38679239C>T	uc001wul.1	+	3	1262	c.645C>T	c.(643-645)CCC>CCT	p.P215P	SSTR1_uc010amu.1_Intron	NM_001049	NP_001040	P30872	SSR1_HUMAN	somatostatin receptor 1	215	Extracellular (Potential).				digestion|G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation|response to nutrient	integral to plasma membrane	somatostatin receptor activity			central_nervous_system(3)|ovary(1)|lung(1)	5	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00444)	Octreotide(DB00104)	TGCCAGAGCCCGCTCAACGCT	0.607		NaN											0	0	0	1	0	26	81				
PPIL5	122769	broad.mit.edu	37	14	50074583	50074583	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr14:50074583G>A	uc001wwn.2	+	3	1072	c.748G>A	c.(748-750)GAA>AAA	p.E250K	SDCCAG1_uc010anj.1_Intron|PPIL5_uc001wwo.2_Intron|PPIL5_uc010ank.2_Missense_Mutation_p.E191K|PPIL5_uc001wwp.2_RNA	NM_152329	NP_689542	Q96L50	LLR1_HUMAN	peptidylprolyl isomerase (cyclophilin)-like 5	250	LRR 5.										0	all_epithelial(31;0.0021)|Breast(41;0.0124)					CCAGCTCCAGGAACTTAAGAA	0.403		NaN											0	0	0	1	0	11	47				
GCH1	2643	broad.mit.edu	37	14	55310749	55310749	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr14:55310749G>A	uc001xbh.1	-	6	900	c.739C>T	c.(739-741)CTC>TTC	p.L247F	GCH1_uc001xbi.1_Missense_Mutation_p.L247F|GCH1_uc001xbj.1_Intron|GCH1_uc001xbk.1_Intron|GCH1_uc010aol.1_Intron	NM_001024024	NP_001019195	P30793	GCH1_HUMAN	GTP cyclohydrolase 1 isoform 1	247					dopamine biosynthetic process|GTP catabolic process|neuromuscular process controlling posture|nitric oxide biosynthetic process|positive regulation of nitric-oxide synthase activity|protein homooligomerization|response to interferon-gamma|response to lipopolysaccharide|response to pain|response to tumor necrosis factor|tetrahydrobiopterin biosynthetic process|tetrahydrofolate biosynthetic process	cytoplasmic vesicle|cytosol|nuclear membrane|protein complex	GTP binding|GTP cyclohydrolase I activity|protein homodimerization activity|zinc ion binding			skin(1)	1						CTCCTAATGAGAGTCAGGAAC	0.483		NaN											0	0	0	1	0	34	87				
KIAA0831	22863	broad.mit.edu	37	14	55852644	55852644	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr14:55852644G>A	uc001xbx.1	-	5	616	c.580C>T	c.(580-582)CGA>TGA	p.R194*	FBXO34_uc001xbv.2_Intron|KIAA0831_uc001xbw.1_Nonsense_Mutation_p.R81*	NM_014924	NP_055739	Q6ZNE5	BAKOR_HUMAN	Barkor	194					autophagic vacuole assembly|positive regulation of autophagy	autophagic vacuole|endoplasmic reticulum|pre-autophagosomal structure membrane	protein binding				0						TGGGATCGTCGAAGATTTGCC	0.408		NaN											0	0	0	1	0	8	30				
RTN1	6252	broad.mit.edu	37	14	60193729	60193729	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr14:60193729G>A	uc001xen.1	-	3	1882	c.1673C>T	c.(1672-1674)TCG>TTG	p.S558L	RTN1_uc001xem.1_Missense_Mutation_p.S138L	NM_021136	NP_066959	Q16799	RTN1_HUMAN	reticulon 1 isoform A	558					neuron differentiation	integral to endoplasmic reticulum membrane	signal transducer activity			ovary(2)|central_nervous_system(2)	4				OV - Ovarian serous cystadenocarcinoma(108;0.0968)		GTTGGAACTCGAGTCTTCTTC	0.622		NaN											0	0	0	1	0	9	38				
PPM1A	5494	broad.mit.edu	37	14	60750112	60750112	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr14:60750112G>A	uc010apn.2	+	3	1093	c.691G>A	c.(691-693)GAT>AAT	p.D231N	PPM1A_uc001xew.3_Missense_Mutation_p.D304N|PPM1A_uc001xex.3_Missense_Mutation_p.D231N|PPM1A_uc001xey.3_Missense_Mutation_p.D231N	NM_021003	NP_066283	P35813	PPM1A_HUMAN	protein phosphatase 1A isoform 1	231					cell cycle arrest|insulin receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway|protein dephosphorylation|Wnt receptor signaling pathway	cytosol|nucleus|protein serine/threonine phosphatase complex	magnesium ion binding|manganese ion binding|protein serine/threonine phosphatase activity|signal transducer activity			skin(1)	1				OV - Ovarian serous cystadenocarcinoma(108;0.046)		TGAAGAAGATGATCAGTTCAT	0.413		NaN											0	0	0	1	0	43	96				
SYT16	83851	broad.mit.edu	37	14	62463153	62463153	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr14:62463153C>G	uc001xfu.1	+	1	613	c.416C>G	c.(415-417)TCT>TGT	p.S139C	SYT16_uc010tsd.1_Missense_Mutation_p.S139C	NM_031914	NP_114120	Q17RD7	SYT16_HUMAN	synaptotagmin XIV-like	139										central_nervous_system(1)	1				OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118)		GTGCTTTCTTCTATTGCGGAG	0.478		NaN											0	0	0	1	0	39	119				
SYNE2	23224	broad.mit.edu	37	14	64529564	64529564	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr14:64529564C>T	uc001xgm.2	+	50	10393	c.10163C>T	c.(10162-10164)TCG>TTG	p.S3388L	SYNE2_uc001xgl.2_Missense_Mutation_p.S3388L|SYNE2_uc010apw.1_Missense_Mutation_p.S94L	NM_015180	NP_055995	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	3388	Cytoplasmic (Potential).|Potential.				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1)	14				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		TCCATGTCCTCGTTGCCACTG	0.398		NaN											0	0	0	1	0	13	33				
SYNE2	23224	broad.mit.edu	37	14	64542728	64542728	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr14:64542728C>G	uc001xgm.2	+	54	11162	c.10932C>G	c.(10930-10932)ATC>ATG	p.I3644M	SYNE2_uc001xgl.2_Missense_Mutation_p.I3644M|SYNE2_uc010apy.2_Missense_Mutation_p.I6M|SYNE2_uc010apw.1_Missense_Mutation_p.I350M|SYNE2_uc010apx.1_Missense_Mutation_p.I36M	NM_015180	NP_055995	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	3644	Cytoplasmic (Potential).				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1)	14				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		AACTGCGAATCAAGTATTCCG	0.368		NaN											0	0	0	1	0	8	19				
FNTB	2342	broad.mit.edu	37	14	65521359	65521359	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr14:65521359C>T	uc001xia.2	+	11	1299	c.1134C>T	c.(1132-1134)AGC>AGT	p.S378S	FNTB_uc010tsl.1_Silent_p.S412S|FNTB_uc010tsm.1_Silent_p.S332S|MAX_uc001xic.1_Intron|FNTB_uc001xid.2_Silent_p.S134S|FNTB_uc010tso.1_Silent_p.S293S	NM_002028	NP_002019	P49356	FNTB_HUMAN	farnesyltransferase, CAAX box, beta	378					protein farnesylation	microtubule associated complex	protein binding|protein farnesyltransferase activity			ovary(1)	1				all cancers(60;0.00115)|OV - Ovarian serous cystadenocarcinoma(108;0.00412)|BRCA - Breast invasive adenocarcinoma(234;0.011)		ACTTCGGCAGCGGAGCCATGT	0.612		NaN											0	0	0	1	0	8	28				
RDH12	145226	broad.mit.edu	37	14	68196080	68196080	+	Silent	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr14:68196080G>C	uc001xjz.3	+	8	1155	c.831G>C	c.(829-831)CTG>CTC	p.L277L		NM_152443	NP_689656	Q96NR8	RDH12_HUMAN	retinol dehydrogenase 12	277					photoreceptor cell maintenance|response to stimulus|retinol metabolic process	intracellular	binding|retinol dehydrogenase activity			ovary(1)	1				all cancers(60;0.000704)|OV - Ovarian serous cystadenocarcinoma(108;0.00161)|BRCA - Breast invasive adenocarcinoma(234;0.00953)	Vitamin A(DB00162)	TGGAGCCCCTGAGTGGCAAGT	0.637		NaN											0	0	0	1	0	25	81				
ZFYVE26	23503	broad.mit.edu	37	14	68217796	68217796	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr14:68217796G>C	uc001xka.2	-	41	7528	c.7389C>G	c.(7387-7389)ATC>ATG	p.I2463M	ZFYVE26_uc010tsz.1_RNA|ZFYVE26_uc001xkb.2_Missense_Mutation_p.I309M	NM_015346	NP_056161	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	2463					cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			ovary(9)|breast(2)	11				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		GTATTGCCTGGATCAGGCCCT	0.552		NaN											0	0	0	1	0	24	60				
C14orf181	400223	broad.mit.edu	37	14	69262700	69262700	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr14:69262700G>A	uc001xkj.1	-	1	491	c.312C>T	c.(310-312)CTC>CTT	p.L104L	ZFP36L1_uc001xkh.1_5'Flank|ZFP36L1_uc001xki.1_5'Flank	NM_207442	NP_997325			hypothetical protein LOC400223												0				all cancers(60;0.002)|BRCA - Breast invasive adenocarcinoma(234;0.00204)|OV - Ovarian serous cystadenocarcinoma(108;0.0399)		AGGCCGAGGCGAGGCGTGCGT	0.761		NaN											0	0	0	1	0	4	24				
ADAM20	8748	broad.mit.edu	37	14	70989717	70989717	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr14:70989717G>A	uc001xme.2	-	2	2153	c.1908C>T	c.(1906-1908)CTC>CTT	p.L636L		NM_003814	NP_003805	O43506	ADA20_HUMAN	ADAM metallopeptidase domain 20 preproprotein	586	Cys-rich.|Extracellular (Potential).				proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding			skin(1)	1			KIRC - Kidney renal clear cell carcinoma(12;0.133)|Kidney(31;0.188)	all cancers(60;0.00294)|BRCA - Breast invasive adenocarcinoma(234;0.00668)|OV - Ovarian serous cystadenocarcinoma(108;0.0344)		TGGTGTCATTGAGGTGAAACT	0.448		NaN											0	0	0	1	0	35	87				
HEATR4	399671	broad.mit.edu	37	14	73987670	73987670	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr14:73987670C>T	uc010tub.1	-	4	1277	c.955G>A	c.(955-957)GAA>AAA	p.E319K	HEATR4_uc010tua.1_Missense_Mutation_p.E272K	NM_203309	NP_976054			HEAT repeat containing 4											ovary(1)	1				BRCA - Breast invasive adenocarcinoma(234;0.00386)|OV - Ovarian serous cystadenocarcinoma(108;0.0719)		CTCGTCTTTTCATGGATATCC	0.517		NaN											0	0	0	1	0	26	76				
C14orf43	91748	broad.mit.edu	37	14	74203808	74203808	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr14:74203808C>G	uc001xot.2	-	3	2425	c.1642G>C	c.(1642-1644)GAT>CAT	p.D548H	C14orf43_uc001xou.2_Missense_Mutation_p.D548H|C14orf43_uc010tud.1_Missense_Mutation_p.D548H|C14orf43_uc010arw.2_RNA	NM_194278	NP_919254	Q6PJG2	CN043_HUMAN	hypothetical protein LOC91748	548					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			ovary(4)|central_nervous_system(1)	5				BRCA - Breast invasive adenocarcinoma(234;0.00358)|KIRC - Kidney renal clear cell carcinoma(182;0.0878)|OV - Ovarian serous cystadenocarcinoma(108;0.115)		CCGTCCTCATCAAGACCTCCA	0.607		NaN											0	0	0	1	0	33	72				
C14orf43	91748	broad.mit.edu	37	14	74203900	74203900	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr14:74203900C>T	uc001xot.2	-	3	2333	c.1550G>A	c.(1549-1551)CGA>CAA	p.R517Q	C14orf43_uc001xou.2_Missense_Mutation_p.R517Q|C14orf43_uc010tud.1_Missense_Mutation_p.R517Q|C14orf43_uc010arw.2_RNA	NM_194278	NP_919254	Q6PJG2	CN043_HUMAN	hypothetical protein LOC91748	517					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			ovary(4)|central_nervous_system(1)	5				BRCA - Breast invasive adenocarcinoma(234;0.00358)|KIRC - Kidney renal clear cell carcinoma(182;0.0878)|OV - Ovarian serous cystadenocarcinoma(108;0.115)		ACTGTCTTCTCGTGCTCGCTT	0.552		NaN											0	0	0	1	0	15	52				
COQ6	51004	broad.mit.edu	37	14	74428472	74428472	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr14:74428472G>C	uc001xph.2	+	11	1323	c.1243G>C	c.(1243-1245)GAA>CAA	p.E415Q	ENTPD5_uc001xpi.2_Intron|COQ6_uc001xpe.2_Missense_Mutation_p.E340Q|COQ6_uc001xpf.2_Missense_Mutation_p.E340Q|COQ6_uc010tuk.1_Missense_Mutation_p.E390Q|COQ6_uc001xpg.2_Intron	NM_182476	NP_872282	Q9Y2Z9	COQ6_HUMAN	coenzyme Q6 homolog isoform a	415					ubiquinone biosynthetic process	mitochondrion	flavin adenine dinucleotide binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen				0				BRCA - Breast invasive adenocarcinoma(234;0.00337)		TTATGAAACAGAAAGACAGCG	0.483		NaN											0	0	0	1	0	56	160				
C14orf115	55237	broad.mit.edu	37	14	74824374	74824374	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr14:74824374C>G	uc001xpw.3	+	2	1079	c.888C>G	c.(886-888)TTC>TTG	p.F296L		NM_018228	NP_060698	Q9H8Y1	VRTN_HUMAN	hypothetical protein LOC55237	296					transposition, DNA-mediated		DNA binding|transposase activity				0				BRCA - Breast invasive adenocarcinoma(234;0.00147)		AAAGCACCTTCTACCGCTGGC	0.647		NaN											0	0	0	1	0	33	89				
MLH3	27030	broad.mit.edu	37	14	75513113	75513113	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr14:75513113C>T	uc001xrd.1	-	2	3462	c.3246G>A	c.(3244-3246)CTG>CTA	p.L1082L	MLH3_uc001xre.1_Silent_p.L1082L|MLH3_uc010tuy.1_RNA	NM_001040108	NP_001035197	Q9UHC1	MLH3_HUMAN	mutL homolog 3 isoform 1	1082					mismatch repair|reciprocal meiotic recombination	chiasma|MutLbeta complex|synaptonemal complex	ATP binding|ATPase activity|mismatched DNA binding|protein binding|satellite DNA binding			ovary(1)|skin(1)	2				BRCA - Breast invasive adenocarcinoma(234;0.00688)		CCACAGTTGTCAGGTCTTTAG	0.438		NaN						MMR					0	0	0	1	0	25	75				
MLH3	27030	broad.mit.edu	37	14	75514904	75514904	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr14:75514904C>T	uc001xrd.1	-	2	1671	c.1455G>A	c.(1453-1455)GAG>GAA	p.E485E	MLH3_uc001xre.1_Silent_p.E485E|MLH3_uc010tuy.1_RNA	NM_001040108	NP_001035197	Q9UHC1	MLH3_HUMAN	mutL homolog 3 isoform 1	485					mismatch repair|reciprocal meiotic recombination	chiasma|MutLbeta complex|synaptonemal complex	ATP binding|ATPase activity|mismatched DNA binding|protein binding|satellite DNA binding			ovary(1)|skin(1)	2				BRCA - Breast invasive adenocarcinoma(234;0.00688)		TTTTATGTTTCTCATTTTCTC	0.363		NaN						MMR					0	0	0	1	0	28	78				
NEK9	91754	broad.mit.edu	37	14	75563842	75563842	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr14:75563842C>T	uc001xrl.2	-	17	2288	c.2134G>A	c.(2134-2136)GAC>AAC	p.D712N	NEK9_uc001xrk.2_Missense_Mutation_p.D212N	NM_033116	NP_149107	Q8TD19	NEK9_HUMAN	NIMA-related kinase 9	712	RCC1 6.				cell division|mitosis	mitochondrion|nucleus	ATP binding|metal ion binding|protein kinase binding|protein serine/threonine kinase activity			lung(2)|stomach(2)|ovary(1)	5				BRCA - Breast invasive adenocarcinoma(234;0.00718)		CAAGACAGGTCCGGGACATGA	0.522		NaN											0	0	0	1	0	12	45				
FLVCR2	55640	broad.mit.edu	37	14	76045555	76045555	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr14:76045555G>A	uc001xrs.2	+	1	616	c.240G>A	c.(238-240)GTG>GTA	p.V80V		NM_017791	NP_060261	Q9UPI3	FLVC2_HUMAN	feline leukemia virus subgroup C cellular	80					transmembrane transport	integral to membrane|plasma membrane	heme binding|heme transporter activity				0				BRCA - Breast invasive adenocarcinoma(234;0.029)		TGATCAAGGTGAGCAGGCGCC	0.597		NaN											0	0	0	1	0	43	141				
C14orf118	55668	broad.mit.edu	37	14	76638345	76638345	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr14:76638345C>G	uc001xsh.2	+	4	973	c.887C>G	c.(886-888)TCT>TGT	p.S296C	C14orf118_uc001xsi.2_Missense_Mutation_p.S296C|C14orf118_uc001xsj.1_Missense_Mutation_p.S296C|C14orf118_uc001xsk.1_Missense_Mutation_p.S296C|C14orf118_uc001xsl.2_RNA	NM_017926	NP_060396	Q9NWQ4	CN118_HUMAN	hypothetical protein LOC55668 isoform 1	296										ovary(2)|skin(1)	3				BRCA - Breast invasive adenocarcinoma(234;0.0172)		CTTTTACCTTCTCGGCCAGCT	0.443		NaN											0	0	0	1	0	22	57				
C14orf4	64207	broad.mit.edu	37	14	77493965	77493965	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr14:77493965C>T	uc001xsy.2	-	1	1070	c.171G>A	c.(169-171)CTG>CTA	p.L57L		NM_024496	NP_078772	Q9H1B7	I2BPL_HUMAN	chromosome 14 open reading frame 4	57						nucleus					0			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.00347)|KIRC - Kidney renal clear cell carcinoma(182;0.0878)		GCGCCCGCTTCAGCTGGCGCG	0.502		NaN											0	0	0	1	0	9	18				
TMEM63C	57156	broad.mit.edu	37	14	77706018	77706018	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr14:77706018C>T	uc001xtf.2	+	12	1091	c.879C>T	c.(877-879)ATC>ATT	p.I293I	TMEM63C_uc010asq.1_Silent_p.I293I	NM_020431	NP_065164	Q9P1W3	TM63C_HUMAN	transmembrane protein 63C	293						integral to membrane					0			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0342)		TGATCAGGATCCACCCCTGTG	0.612		NaN											0	0	0	1	0	13	33				
POMT2	29954	broad.mit.edu	37	14	77746776	77746776	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr14:77746776C>T	uc001xti.2	-	16	1885	c.1684G>A	c.(1684-1686)GAG>AAG	p.E562K	POMT2_uc001xth.1_Missense_Mutation_p.E260K	NM_013382	NP_037514	Q9UKY4	POMT2_HUMAN	protein-O-mannosyltransferase 2	562					protein O-linked glycosylation	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-mannose-protein mannosyltransferase activity|metal ion binding			ovary(1)	1			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0292)		GACGTGAACTCATTGTCCTTG	0.532		NaN											0	0	0	1	0	30	64				
SPTLC2	9517	broad.mit.edu	37	14	78063675	78063675	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr14:78063675C>T	uc001xub.2	-	2	369	c.181G>A	c.(181-183)GAA>AAA	p.E61K		NM_004863	NP_004854	O15270	SPTC2_HUMAN	serine palmitoyltransferase, long chain base	61				EAFE -> TLAR (in Ref. 5; AAC50871).		integral to membrane|serine C-palmitoyltransferase complex	pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups			upper_aerodigestive_tract(1)|ovary(1)	2			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0346)	L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)	TCAAAAGCTTCATTAAACGGT	0.383		NaN											0	0	0	1	0	8	46				
PTPN21	11099	broad.mit.edu	37	14	88945337	88945337	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr14:88945337G>C	uc001xwv.3	-	13	2769	c.2438C>G	c.(2437-2439)TCT>TGT	p.S813C	PTPN21_uc010twc.1_Missense_Mutation_p.S609C	NM_007039	NP_008970	Q16825	PTN21_HUMAN	protein tyrosine phosphatase, non-receptor type	813						cytoplasm|cytoskeleton	binding|protein tyrosine phosphatase activity			ovary(3)|skin(1)	4						TTTCTTCAGAGAGTCCCTCCG	0.662		NaN											0	0	0	1	0	42	110				
EML5	161436	broad.mit.edu	37	14	89131686	89131686	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr14:89131686G>A	uc001xxg.2	-	23	3458	c.3272C>T	c.(3271-3273)TCA>TTA	p.S1091L	EML5_uc001xxf.2_5'UTR|EML5_uc001xxh.1_Missense_Mutation_p.S230L	NM_183387	NP_899243	Q05BV3	EMAL5_HUMAN	echinoderm microtubule associated protein like	1091	WD 18.					cytoplasm|microtubule				ovary(3)	3						CTTACCAGGTGAAAATCGAAT	0.333		NaN											0	0	0	1	0	6	18				
TTC7B	145567	broad.mit.edu	37	14	91282539	91282539	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr14:91282539G>A	uc001xyp.2	-	1	223	c.101C>T	c.(100-102)TCG>TTG	p.S34L		NM_001010854	NP_001010854	Q86TV6	TTC7B_HUMAN	tetratricopeptide repeat domain 7B	34							binding			ovary(2)	2		Melanoma(154;0.222)				GAGCTTGGCCGACAGCTGCTT	0.418		NaN											0	0	0	1	0	10	39				
RPS6KA5	9252	broad.mit.edu	37	14	91372534	91372534	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr14:91372534G>A	uc001xys.2	-	8	1131	c.916C>T	c.(916-918)CCA>TCA	p.P306S	RPS6KA5_uc010twi.1_Missense_Mutation_p.P227S|RPS6KA5_uc001xyt.2_Missense_Mutation_p.P306S|RPS6KA5_uc010att.1_RNA	NM_004755	NP_004746	O75582	KS6A5_HUMAN	ribosomal protein S6 kinase, polypeptide 5	306	Protein kinase 1.				axon guidance|epidermal growth factor receptor signaling pathway|histone phosphorylation|innate immune response|interleukin-1-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytoplasm|nucleoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			ovary(1)	1		all_cancers(154;0.0148)|Melanoma(154;0.099)|all_epithelial(191;0.146)		Epithelial(152;0.182)|BRCA - Breast invasive adenocarcinoma(234;0.201)		GCATCACGTGGACCACATCCC	0.408		NaN											0	0	0	1	0	12	69				
ATXN3	4287	broad.mit.edu	37	14	92560118	92560118	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr14:92560118C>G	uc001yac.3	-	4	361	c.292G>C	c.(292-294)GAG>CAG	p.E98Q	ATXN3_uc010aug.2_Missense_Mutation_p.E83Q|ATXN3_uc001yad.3_Missense_Mutation_p.E43Q|ATXN3_uc010auh.2_Intron|ATXN3_uc001yae.3_Intron|ATXN3_uc010twl.1_Intron	NM_004993	NP_004984	P54252	ATX3_HUMAN	ataxin 3 reference isoform	98	Josephin.				cell death|nervous system development|nucleotide-excision repair|regulation of transcription, DNA-dependent|synaptic transmission|transcription, DNA-dependent	cytoplasm|nuclear matrix|nucleoplasm	cysteine-type peptidase activity|protein binding				0		all_cancers(154;0.0768)		COAD - Colon adenocarcinoma(157;0.224)		CTCTGATACTCTGGACTGTTG	0.333		NaN											0	0	0	1	0	15	62				
KIAA1409	57578	broad.mit.edu	37	14	94044269	94044269	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr14:94044269C>T	uc001ybv.1	+	15	1845	c.1762C>T	c.(1762-1764)CGG>TGG	p.R588W	KIAA1409_uc001ybs.1_Missense_Mutation_p.R588W	NM_020818	NP_065869	Q9P2D8	UNC79_HUMAN	hypothetical protein LOC57578	765						integral to membrane				ovary(10)|skin(4)|large_intestine(3)	17		all_cancers(154;0.0354)|all_epithelial(191;0.216)		Epithelial(152;0.188)		GAGTCCGTTTCGGAGTCCTTT	0.448		NaN											0	0	0	1	0	37	168				
EML1	2009	broad.mit.edu	37	14	100405533	100405533	+	Splice_Site	SNP	G	G	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr14:100405533G>T	uc001ygs.2	+	21	2261	c.2192_splice	c.e21-1	p.G731_splice	EML1_uc010tww.1_Splice_Site_p.G719_splice|EML1_uc001ygr.2_Splice_Site_p.G750_splice	NM_004434	NP_004425	O00423	EMAL1_HUMAN	echinoderm microtubule associated protein like 1							cytoplasm|microtubule|microtubule associated complex	calcium ion binding|protein binding			large_intestine(2)|pancreas(1)|ovary(1)|skin(1)	5		Melanoma(154;0.0879)|all_epithelial(191;0.216)				CTTTGTTTTAGGAGTGTGGCC	0.572		NaN											1	0	1.02788e-11	1	1.07753e-11	16	77				
EML1	2009	broad.mit.edu	37	14	100405640	100405640	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr14:100405640C>G	uc001ygs.2	+	21	2367	c.2298C>G	c.(2296-2298)TTC>TTG	p.F766L	EML1_uc010tww.1_Missense_Mutation_p.F754L|EML1_uc001ygr.2_Missense_Mutation_p.F785L	NM_004434	NP_004425	O00423	EMAL1_HUMAN	echinoderm microtubule associated protein like 1	766	WD 10.					cytoplasm|microtubule|microtubule associated complex	calcium ion binding|protein binding			large_intestine(2)|pancreas(1)|ovary(1)|skin(1)	5		Melanoma(154;0.0879)|all_epithelial(191;0.216)				TGCACCTCTTCTCATACCCCT	0.537		NaN											0	0	0	1	0	20	67				
BEGAIN	57596	broad.mit.edu	37	14	101005143	101005143	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr14:101005143G>A	uc010txa.1	-	6	1091	c.945C>T	c.(943-945)GCC>GCT	p.A315A	BEGAIN_uc001yhp.2_Silent_p.A251A|BEGAIN_uc001yhq.2_Silent_p.A315A	NM_001159531	NP_001153003	Q9BUH8	BEGIN_HUMAN	brain-enriched guanylate kinase-associated	315						cytoplasm|membrane	protein binding				0		Melanoma(154;0.212)				TCAGCGTGCTGGCCTGCGCGT	0.672		NaN											0	0	0	1	0	9	17				
BEGAIN	57596	broad.mit.edu	37	14	101005461	101005461	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr14:101005461G>A	uc010txa.1	-	6	773	c.627C>T	c.(625-627)TTC>TTT	p.F209F	BEGAIN_uc001yhp.2_Silent_p.F145F|BEGAIN_uc001yhq.2_Silent_p.F209F	NM_001159531	NP_001153003	Q9BUH8	BEGIN_HUMAN	brain-enriched guanylate kinase-associated	209						cytoplasm|membrane	protein binding				0		Melanoma(154;0.212)				CCCCGTCGCAGAAGGCCAGGT	0.692		NaN											0	0	0	1	0	10	29				
PLD4	122618	broad.mit.edu	37	14	105397102	105397102	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr14:105397102C>T	uc001ypu.1	+	7	882	c.741C>T	c.(739-741)ATC>ATT	p.I247I	PLD4_uc010tyl.1_Silent_p.I254I	NM_138790	NP_620145	Q96BZ4	PLD4_HUMAN	phospholipase D4	247					lipid catabolic process	integral to membrane	NAPE-specific phospholipase D activity|phospholipase D activity			central_nervous_system(1)|skin(1)	2		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.00067)|OV - Ovarian serous cystadenocarcinoma(23;0.00976)|Epithelial(46;0.0201)|GBM - Glioblastoma multiforme(11;0.116)		Choline(DB00122)	GCGCTGTCATCTATAACTGCA	0.617		NaN											0	0	0	1	0	39	119				
AHNAK2	113146	broad.mit.edu	37	14	105410848	105410848	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr14:105410848G>T	uc010axc.1	-	7	11060	c.10940C>A	c.(10939-10941)TCA>TAA	p.S3647*	AHNAK2_uc001ypx.2_Nonsense_Mutation_p.S3547*	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3647						nucleus				ovary(1)	1		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TACCCTGAATGACGGCATCTT	0.587		NaN											1	0	1.07134e-49	1	1.14723e-49	85	307				
AHNAK2	113146	broad.mit.edu	37	14	105415185	105415185	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr14:105415185G>A	uc010axc.1	-	7	6723	c.6603C>T	c.(6601-6603)CTC>CTT	p.L2201L	AHNAK2_uc001ypx.2_Silent_p.L2101L	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	2201						nucleus				ovary(1)	1		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GCTGAATGCTGAGGTCAGTGG	0.637		NaN											0	0	0	1	0	78	135				
MAGEL2	54551	broad.mit.edu	37	15	23889330	23889330	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr15:23889330C>T	uc001ywj.3	-	1	1846	c.1751G>A	c.(1750-1752)CGA>CAA	p.R584Q		NM_019066	NP_061939			MAGE-like protein 2												0		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)		CAGGAATGCTCGAGGGCCCCA	0.512		NaN											0	0	0	1	0	23	51				
APBA2	321	broad.mit.edu	37	15	29367150	29367150	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr15:29367150G>A	uc001zck.2	+	4	1185	c.978G>A	c.(976-978)AGG>AGA	p.R326R	APBA2_uc010azj.2_Silent_p.R326R|APBA2_uc010uat.1_Silent_p.R326R|APBA2_uc001zcl.2_Silent_p.R326R|APBA2_uc001zcm.1_Silent_p.R30R	NM_005503	NP_005494	Q99767	APBA2_HUMAN	amyloid beta A4 precursor protein-binding,	326					nervous system development|protein transport		protein binding				0		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)		AGCAGCCAAGGAAGCAGCAGC	0.418		NaN											0	0	0	1	0	13	28				
CHRFAM7A	89832	broad.mit.edu	37	15	30659650	30659650	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr15:30659650C>T	uc001zdt.1	-	9	1257	c.691G>A	c.(691-693)GAC>AAC	p.D231N	DKFZP434L187_uc001zds.2_Intron|CHRFAM7A_uc001zdu.1_Missense_Mutation_p.D140N|CHRFAM7A_uc010azn.2_Missense_Mutation_p.D140N	NM_139320	NP_647536	Q494W8	CRFM7_HUMAN	CHRNA7-FAM7A fusion isoform 1	231						integral to membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity			skin(1)	1		all_lung(180;3.42e-11)|Breast(32;0.000153)		all cancers(64;1.9e-15)|Epithelial(43;3.59e-12)|GBM - Glioblastoma multiforme(186;9e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)|Lung(196;0.153)		CCGTCGGGGTCGTGGTGGTGG	0.597		NaN											0	0	0	1	0	12	68				
MTMR10	54893	broad.mit.edu	37	15	31239356	31239356	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr15:31239356G>A	uc001zfh.1	-	14	1623	c.1525C>T	c.(1525-1527)CAC>TAC	p.H509Y	MTMR10_uc010ubk.1_5'UTR|MTMR10_uc001zfg.1_Missense_Mutation_p.H90Y|MTMR10_uc010azx.1_Missense_Mutation_p.H261Y|MTMR10_uc001zfi.1_Missense_Mutation_p.H261Y|MTMR10_uc001zfj.2_Missense_Mutation_p.H427Y|MTMR10_uc001zfk.2_Missense_Mutation_p.H261Y	NM_017762	NP_060232	Q9NXD2	MTMRA_HUMAN	myotubularin related protein 10	509	Myotubularin phosphatase.						phosphatase activity			ovary(1)	1		all_lung(180;2.81e-11)		all cancers(64;7.26e-15)|Epithelial(43;7.2e-11)|GBM - Glioblastoma multiforme(186;0.000158)|BRCA - Breast invasive adenocarcinoma(123;0.00426)|Lung(196;0.174)		ACTCGCTGGTGAGGGGAGTTG	0.473		NaN											0	0	0	1	0	31	109				
TRPM1	4308	broad.mit.edu	37	15	31360134	31360134	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr15:31360134G>A	uc001zfm.2	-	4	503	c.375C>T	c.(373-375)ATC>ATT	p.I125I	TRPM1_uc010azy.2_Silent_p.I38I|TRPM1_uc001zfl.2_RNA|uc010ubm.1_5'Flank|MIR211_hsa-mir-211|MI0000287_5'Flank|uc010ubn.1_5'Flank	NM_002420	NP_002411	Q7Z4N2	TRPM1_HUMAN	transient receptor potential cation channel,	125	Extracellular (Potential).				cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity			ovary(2)|pancreas(1)|skin(1)	4		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		TAGCAGCCTTGATCAGGCCTT	0.547		NaN											0	0	0	1	0	38	131				
RYR3	6263	broad.mit.edu	37	15	34061318	34061318	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr15:34061318G>A	uc001zhi.2	+	62	8831	c.8761G>A	c.(8761-8763)GAT>AAT	p.D2921N	RYR3_uc010bar.2_Missense_Mutation_p.D2921N	NM_001036	NP_001027	Q15413	RYR3_HUMAN	ryanodine receptor 3	2921	Cytoplasmic (By similarity).				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(5)|central_nervous_system(4)|lung(1)	10		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		TCCAGGTAGTGATTCTACTAC	0.438		NaN											0	0	0	1	0	24	67				
C15orf54	400360	broad.mit.edu	37	15	39544555	39544555	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr15:39544555G>C	uc001zkg.2	+	2	587	c.219G>C	c.(217-219)ATG>ATC	p.M73I		NM_207445	NP_997328	Q8N8G6	CO054_HUMAN	hypothetical protein LOC400360	73											0		all_cancers(109;5.39e-14)|all_epithelial(112;3.14e-12)|Lung NSC(122;9.74e-10)|all_lung(180;2.23e-08)|Melanoma(134;0.091)|Colorectal(260;0.198)		GBM - Glioblastoma multiforme(113;1.19e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0706)		TGTCAGAAATGACTTTCAGGG	0.423		NaN											0	0	0	1	0	66	144				
DISP2	85455	broad.mit.edu	37	15	40655912	40655912	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr15:40655912C>T	uc001zlk.1	+	2	295	c.206C>T	c.(205-207)TCT>TTT	p.S69F		NM_033510	NP_277045	A7MBM2	DISP2_HUMAN	dispatched B	69					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)		CCTTCCAGCTCTTCAGGACCC	0.637		NaN											0	0	0	1	0	48	149				
UBR1	197131	broad.mit.edu	37	15	43294805	43294805	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr15:43294805G>A	uc001zqq.2	-	32	3673	c.3607C>T	c.(3607-3609)CTG>TTG	p.L1203L		NM_174916	NP_777576	Q8IWV7	UBR1_HUMAN	ubiquitin protein ligase E3 component n-recognin	1203					cellular response to leucine|negative regulation of TOR signaling cascade	cytosol	leucine binding|zinc ion binding			lung(1)	1		all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214)		GTATTGCACAGAGATTTGCAA	0.343		NaN											0	0	0	1	0	14	72				
DUT	1854	broad.mit.edu	37	15	48623792	48623792	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr15:48623792G>C	uc001zws.2	+	1	172	c.80G>C	c.(79-81)CGA>CCA	p.R27P	DUT_uc001zwt.2_Intron|DUT_uc001zwu.2_RNA|DUT_uc001zwv.2_5'Flank|DUT_uc001zww.2_5'Flank|uc010ben.1_RNA	NM_001025248	NP_001020419	P33316	DUT_HUMAN	deoxyuridine triphosphatase isoform 1 precursor	27					DNA replication|dUTP metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside biosynthetic process	mitochondrion|nucleoplasm	dUTP diphosphatase activity|protein binding				0		all_lung(180;0.00265)		all cancers(107;2.66e-09)|GBM - Glioblastoma multiforme(94;6.76e-07)		CAAAACGCGCGAGGCGCACGG	0.701		NaN						Modulation_of_nucleotide_pools					0	0	0	1	0	3	12				
USP8	9101	broad.mit.edu	37	15	50769684	50769684	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr15:50769684G>A	uc001zym.3	+	11	1706	c.1206G>A	c.(1204-1206)AAG>AAA	p.K402K	USP8_uc001zyk.1_Silent_p.K103K|USP8_uc001zyl.3_Silent_p.K402K|USP8_uc001zyn.3_Silent_p.K402K|USP8_uc010ufh.1_Silent_p.K325K|USP8_uc010bev.1_Silent_p.K31K	NM_001128611	NP_001122083	P40818	UBP8_HUMAN	ubiquitin specific peptidase 8	402					cell cycle|cell proliferation|endosome organization|protein K48-linked deubiquitination|protein K63-linked deubiquitination|ubiquitin-dependent protein catabolic process	cytosol|early endosome|extrinsic to plasma membrane|nucleus	cysteine-type endopeptidase activity|SH3 domain binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			lung(1)|central_nervous_system(1)	2				all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771)		CTAGTATAAAGAATGTTCCAC	0.284		NaN											0	0	0	1	0	20	81				
DMXL2	23312	broad.mit.edu	37	15	51783938	51783938	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr15:51783938G>C	uc002abf.2	-	20	5015	c.4790C>G	c.(4789-4791)TCT>TGT	p.S1597C	DMXL2_uc010ufy.1_Missense_Mutation_p.S1597C|DMXL2_uc010bfa.2_Missense_Mutation_p.S961C	NM_015263	NP_056078	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	1597						cell junction|synaptic vesicle membrane	Rab GTPase binding			ovary(6)|skin(3)	9				all cancers(107;0.00494)		ATGGCATGTAGAGACACCTAA	0.363		NaN											0	0	0	1	0	30	77				
GNB5	10681	broad.mit.edu	37	15	52416714	52416714	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr15:52416714C>T	uc002abt.1	-	12	1197	c.1132G>A	c.(1132-1134)GAT>AAT	p.D378N	GNB5_uc002abr.1_Missense_Mutation_p.D336N|GNB5_uc002abs.1_Missense_Mutation_p.D266N	NM_016194	NP_057278	O14775	GBB5_HUMAN	guanine nucleotide-binding protein, beta-5	378	WD 7.					heterotrimeric G-protein complex	GTPase activity|signal transducer activity			lung(1)	1				all cancers(107;0.0163)		GCAGTCCCATCGGGGGAAACT	0.498		NaN											0	0	0	1	0	18	65				
MYO1E	4643	broad.mit.edu	37	15	59466040	59466040	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr15:59466040C>G	uc002aga.2	-	21	2611	c.2239G>C	c.(2239-2241)GGG>CGG	p.G747R	MIR2116_hsa-mir-2116|MI0010635_5'Flank	NM_004998	NP_004989	Q12965	MYO1E_HUMAN	myosin IE	747					actin filament-based movement	myosin complex	actin binding|ATP binding|ATPase activity, coupled|calmodulin binding|microfilament motor activity			central_nervous_system(3)	3				all cancers(107;0.207)		TCTTCCATCCCAATATAATCC	0.458		NaN											0	0	0	1	0	55	182				
GCNT3	9245	broad.mit.edu	37	15	59910809	59910809	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr15:59910809G>A	uc002age.2	+	3	821	c.372G>A	c.(370-372)CTG>CTA	p.L124L	GCNT3_uc002agd.2_Silent_p.L124L	NM_004751	NP_004742	O95395	GCNT3_HUMAN	glucosaminyl (N-acetyl) transferase 3, mucin	124	Lumenal (Potential).				protein O-linked glycosylation	Golgi membrane|integral to membrane|membrane fraction	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity|N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity			ovary(1)|central_nervous_system(1)	2						AGTTCCCACTGAGCAAAGAAG	0.473		NaN											0	0	0	1	0	20	58				
GCNT3	9245	broad.mit.edu	37	15	59911184	59911184	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr15:59911184G>A	uc002age.2	+	3	1196	c.747G>A	c.(745-747)AGG>AGA	p.R249R	GCNT3_uc002agd.2_Silent_p.R249R	NM_004751	NP_004742	O95395	GCNT3_HUMAN	glucosaminyl (N-acetyl) transferase 3, mucin	249	Lumenal (Potential).				protein O-linked glycosylation	Golgi membrane|integral to membrane|membrane fraction	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity|N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity			ovary(1)|central_nervous_system(1)	2						TGAATGGGAGGAATAGCATGG	0.458		NaN											0	0	0	1	0	58	139				
RORA	6095	broad.mit.edu	37	15	60789729	60789729	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr15:60789729C>T	uc002agv.2	-	12	1752	c.1596G>A	c.(1594-1596)GTG>GTA	p.V532V	uc002ags.1_Intron|RORA_uc002agt.3_Silent_p.V444V|RORA_uc002agw.2_Silent_p.V524V|RORA_uc002agx.2_Silent_p.V499V	NM_134260	NP_599022	P35398	RORA_HUMAN	RAR-related orphan receptor A isoform b	532	Ligand-binding.				positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			large_intestine(1)|ovary(1)	2						AATGAAGTCGCACAATGTCTG	0.378		NaN											0	0	0	1	0	10	44				
HERC1	8925	broad.mit.edu	37	15	63916468	63916468	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr15:63916468G>T	uc002amp.2	-	72	13482	c.13334C>A	c.(13333-13335)CCT>CAT	p.P4445H		NM_003922	NP_003913	Q15751	HERC1_HUMAN	hect domain and RCC1-like domain 1	4445					protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity			ovary(6)|breast(6)|lung(5)|central_nervous_system(2)	19						GGCTAACAAAGGCCGAAGTTG	0.453		NaN											1	0	5.60225e-13	1	5.88375e-13	31	75				
CILP	8483	broad.mit.edu	37	15	65497670	65497670	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr15:65497670C>T	uc002aon.2	-	5	740	c.559G>A	c.(559-561)GAG>AAG	p.E187K		NM_003613	NP_003604	O75339	CILP1_HUMAN	cartilage intermediate layer protein	187	TSP type-1.				negative regulation of insulin-like growth factor receptor signaling pathway	extracellular matrix part|extracellular space|proteinaceous extracellular matrix				ovary(4)|pancreas(2)|skin(1)	7						TCGCTGGCCTCACTGCACAGC	0.617		NaN											0	0	0	1	0	33	97				
PTPLAD1	51495	broad.mit.edu	37	15	65847289	65847289	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr15:65847289G>A	uc002apc.2	+	3	343	c.195G>A	c.(193-195)GTG>GTA	p.V65V	PTPLAD1_uc002apb.1_RNA|PTPLAD1_uc010uiw.1_Silent_p.V65V	NM_016395	NP_057479	Q9P035	HACD3_HUMAN	protein tyrosine phosphatase-like A domain	65	CS.|Cytoplasmic (Potential).				activation of JUN kinase activity|fatty acid biosynthetic process|I-kappaB kinase/NF-kappaB cascade|Rac protein signal transduction	endoplasmic reticulum membrane|integral to membrane	GTPase activator activity|lyase activity|protein binding				0						TAGACCTTGTGAAACCAGAGG	0.413		NaN											0	0	0	1	0	39	115				
CLN6	54982	broad.mit.edu	37	15	68503654	68503654	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr15:68503654G>A	uc002arf.2	-	5	647	c.489C>T	c.(487-489)ATC>ATT	p.I163I	CLN6_uc010ujy.1_Intron|CLN6_uc010ujz.1_Silent_p.I195I	NM_017882	NP_060352	Q9NWW5	CLN6_HUMAN	CLN6 protein	163					cell death|cholesterol metabolic process|ganglioside metabolic process|glycosaminoglycan metabolic process|lysosomal lumen acidification|positive regulation of proteolysis|protein catabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	protein homodimerization activity				0						CAAAGGAGTCGATCTGAGGGA	0.602		NaN											0	0	0	1	0	28	99				
ITGA11	22801	broad.mit.edu	37	15	68609618	68609618	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr15:68609618G>A	uc002ari.2	-	21	2787	c.2700C>T	c.(2698-2700)TTC>TTT	p.F900F	ITGA11_uc010bib.2_Silent_p.F900F	NM_001004439	NP_001004439	Q9UKX5	ITA11_HUMAN	integrin, alpha 11 precursor	900	Extracellular (Potential).				cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development	integrin complex	collagen binding|receptor activity			kidney(2)|pancreas(1)	3					Tirofiban(DB00775)	CCTTGGCCCGGAAGAAGGGAT	0.602		NaN											0	0	0	1	0	26	112				
PARP6	56965	broad.mit.edu	37	15	72558264	72558264	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr15:72558264G>C	uc002auc.2	-	4	609	c.150C>G	c.(148-150)ATC>ATG	p.I50M	PARP6_uc002aua.2_Translation_Start_Site|PARP6_uc002aub.2_RNA|PARP6_uc002aud.3_RNA|PARP6_uc002auf.1_Missense_Mutation_p.I50M	NM_020214	NP_064599	Q2NL67	PARP6_HUMAN	poly (ADP-ribose) polymerase family, member 6	50							NAD+ ADP-ribosyltransferase activity				0						TCTCACTGTAGATCTCCTTCA	0.498		NaN											0	0	0	1	0	15	56				
HCN4	10021	broad.mit.edu	37	15	73624577	73624577	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr15:73624577G>A	uc002avp.2	-	3	2260	c.1266C>T	c.(1264-1266)ATC>ATT	p.I422I		NM_005477	NP_005468	Q9Y3Q4	HCN4_HUMAN	hyperpolarization activated cyclic	422	Helical; Name=Segment S5; (Potential).				blood circulation|muscle contraction	integral to membrane	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity			ovary(5)|liver(1)	6				COAD - Colon adenocarcinoma(1;0.142)		GCATCATGCCGATGAGGTTCA	0.592		NaN											0	0	0	1	0	16	74				
SIN3A	25942	broad.mit.edu	37	15	75715054	75715054	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr15:75715054C>G	uc002bai.2	-	3	559	c.300G>C	c.(298-300)CAG>CAC	p.Q100H	SIN3A_uc002baj.2_Missense_Mutation_p.Q100H|SIN3A_uc010uml.1_Missense_Mutation_p.Q100H|SIN3A_uc002bak.3_Missense_Mutation_p.Q100H	NM_015477	NP_056292	Q96ST3	SIN3A_HUMAN	transcriptional co-repressor Sin3A	100					blood coagulation|cellular lipid metabolic process|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|Sin3 complex	protein binding			skin(3)|ovary(1)|lung(1)	5						GAGCATGACTCTGGACCACCT	0.562		NaN											0	0	0	1	0	60	117				
PTPN9	5780	broad.mit.edu	37	15	75798209	75798209	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr15:75798209C>T	uc002bal.2	-	7	1283	c.775G>A	c.(775-777)GAT>AAT	p.D259N		NM_002833	NP_002824	P43378	PTN9_HUMAN	protein tyrosine phosphatase, non-receptor type	259						cytoplasmic part	non-membrane spanning protein tyrosine phosphatase activity|protein binding			lung(1)|skin(1)	2						TCGAAGGGATCTGGGTGGCCG	0.532		NaN											0	0	0	1	0	18	54				
FBXO22	26263	broad.mit.edu	37	15	76196329	76196329	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr15:76196329G>A	uc002bbk.2	+	1	130	c.25G>A	c.(25-27)GAG>AAG	p.E9K	FBXO22_uc002bbj.1_Missense_Mutation_p.E9K|FBXO22_uc002bbl.2_5'UTR	NM_147188	NP_671717	Q8NEZ5	FBX22_HUMAN	F-box only protein 22 isoform a	9				VGCCGECR -> AGACGGP (in Ref. 5; AAF04523).	ubiquitin-dependent protein catabolic process		ubiquitin-protein ligase activity				0						CTGCTGCGGCGAGTGCCGCGG	0.677		NaN											0	0	0	1	0	5	7				
SCAPER	49855	broad.mit.edu	37	15	76994204	76994204	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr15:76994204G>A	uc002bby.2	-	19	2462	c.2403C>T	c.(2401-2403)ATC>ATT	p.I801I	SCAPER_uc010bkr.2_Silent_p.I109I|SCAPER_uc002bbx.2_Silent_p.I555I|SCAPER_uc002bbz.1_Silent_p.I672I|SCAPER_uc002bca.1_Silent_p.I666I	NM_020843	NP_065894	Q9BY12	SCAPE_HUMAN	S-phase cyclin A-associated protein in the ER	800	C2H2-type.					endoplasmic reticulum|nucleus	zinc ion binding			large_intestine(1)|lung(1)|ovary(1)	3						CCTCTGAAGAGATCTGAAAGC	0.378		NaN											0	0	0	1	0	8	31				
CRABP1	1381	broad.mit.edu	37	15	78635840	78635840	+	Splice_Site	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr15:78635840G>A	uc002bdp.2	+	3	355	c.250_splice	c.e3-1	p.S84_splice		NM_004378	NP_004369	P29762	RABP1_HUMAN	cellular retinoic acid binding protein 1						multicellular organismal development|signal transduction	cytoplasm	retinal binding|retinol binding|transporter activity				0					Alitretinoin(DB00523)|Etretinate(DB00926)	CCCGCCTGCAGAGTTTAGCCA	0.493		NaN											0	0	0	1	0	8	46				
KIAA1199	57214	broad.mit.edu	37	15	81199101	81199101	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr15:81199101G>A	uc002bfw.1	+	12	1769	c.1509G>A	c.(1507-1509)GAG>GAA	p.E503E	KIAA1199_uc010unn.1_Silent_p.E503E	NM_018689	NP_061159	Q8WUJ3	K1199_HUMAN	KIAA1199 precursor	503										upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3						TGATGGGGGAGATGGAGGACA	0.527		NaN											0	0	0	1	0	19	62				
TMC3	342125	broad.mit.edu	37	15	81660670	81660670	+	Splice_Site	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr15:81660670C>T	uc002bgo.1	-	3	237	c.237_splice	c.e3-1	p.R79_splice	TMC3_uc010blr.1_Splice_Site|TMC3_uc002bgp.2_Splice_Site_p.R79_splice	NM_001080532	NP_001074001	Q7Z5M5	TMC3_HUMAN	transmembrane channel-like 3							integral to membrane				ovary(1)|liver(1)	2						CTTCGCTTGTCTAAGAGAAGA	0.423		NaN											0	0	0	1	0	58	195				
ACAN	176	broad.mit.edu	37	15	89400090	89400090	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr15:89400090G>C	uc010upo.1	+	12	4648	c.4274G>C	c.(4273-4275)GGA>GCA	p.G1425A	ACAN_uc010upp.1_Missense_Mutation_p.G1425A|ACAN_uc002bna.2_RNA	NM_013227	NP_037359	E7EX88	E7EX88_HUMAN	aggrecan isoform 2 precursor	1425					cell adhesion		hyaluronic acid binding|sugar binding			ovary(2)|central_nervous_system(1)	3	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			ACTGCCCCTGGAGTAGATGAG	0.532		NaN											0	0	0	1	0	73	202				
ACAN	176	broad.mit.edu	37	15	89417171	89417171	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr15:89417171G>C	uc010upo.1	+	17	7806	c.7432G>C	c.(7432-7434)GAG>CAG	p.E2478Q	ACAN_uc010upp.1_Intron|ACAN_uc002bna.2_RNA	NM_013227	NP_037359	E7EX88	E7EX88_HUMAN	aggrecan isoform 2 precursor	2478					cell adhesion		hyaluronic acid binding|sugar binding			ovary(2)|central_nervous_system(1)	3	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			CCAGTGCACAGAGGGGTTTGT	0.642		NaN											0	0	0	1	0	8	39				
ACAN	176	broad.mit.edu	37	15	89417256	89417256	+	Splice_Site	SNP	G	G	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr15:89417256G>T	uc010upo.1	+	17	7890	c.7516_splice	c.e17+1	p.P2506_splice	ACAN_uc010upp.1_Intron|ACAN_uc002bna.2_Splice_Site	NM_013227	NP_037359	E7EX88	E7EX88_HUMAN	aggrecan isoform 2 precursor						cell adhesion		hyaluronic acid binding|sugar binding			ovary(2)|central_nervous_system(1)	3	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			TGCACAGACCGTGAGCATCAC	0.657		NaN											1	0	3.27435e-08	1	3.40091e-08	15	36				
CHD2	1106	broad.mit.edu	37	15	93527668	93527668	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr15:93527668G>C	uc002bsp.2	+	25	3750	c.3175G>C	c.(3175-3177)GAG>CAG	p.E1059Q	CHD2_uc002bso.1_Missense_Mutation_p.E1059Q	NM_001271	NP_001262	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	1059	Glu-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)			AGAGGAGGAAGAGCGGCAGAA	0.408		NaN											0	0	0	1	0	4	26				
CEMP1	752014	broad.mit.edu	37	16	2581056	2581056	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr16:2581056C>T	uc002cqr.2	-	1	375	c.19G>A	c.(19-21)GAC>AAC	p.D7N		NM_001048212	NP_001041677	Q6PRD7	CEMP1_HUMAN	cementum protein 1	7						cytoplasm				skin(1)	1						TGCTGGCTGTCAGTGCTTGAT	0.617		NaN											0	0	0	1	0	16	73				
CLDN6	9074	broad.mit.edu	37	16	3065463	3065463	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr16:3065463G>T	uc002csu.3	-	2	620	c.560C>A	c.(559-561)TCG>TAG	p.S187*		NM_021195	NP_067018	P56747	CLD6_HUMAN	claudin 6	187	Cytoplasmic (Potential).				calcium-independent cell-cell adhesion	integral to membrane|tight junction	identical protein binding|structural molecule activity				0						GGACCCCCCCGAGGGGCAAGT	0.652		NaN											1	0	1.37285e-15	1	1.44903e-15	16	53				
ZSCAN10	84891	broad.mit.edu	37	16	3139503	3139503	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr16:3139503G>A	uc002ctv.1	-	5	1855	c.1767C>T	c.(1765-1767)AGC>AGT	p.S589S	ZSCAN10_uc002cty.1_Silent_p.S250S|ZSCAN10_uc002ctw.1_Silent_p.S507S|ZSCAN10_uc002ctx.1_Silent_p.S517S	NM_032805	NP_116194	Q96SZ4	ZSC10_HUMAN	zinc finger and SCAN domain containing 10	589	C2H2-type 10.				negative regulation of transcription, DNA-dependent|viral reproduction	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1						GGGCGCTCTGGCTGAAGCCCT	0.697		NaN											0	0	0	1	0	10	43				
C16orf90	646174	broad.mit.edu	37	16	3543964	3543964	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr16:3543964C>G	uc002cvi.2	-	3	424	c.424G>C	c.(424-426)GAC>CAC	p.D142H		NM_001080524	NP_001073993	A8MZG2	CP090_HUMAN	hypothetical protein LOC646174	132											0						GCACCCTTGTCTGGGTCCATG	0.632		NaN											0	0	0	1	0	11	17				
MGRN1	23295	broad.mit.edu	37	16	4674988	4674988	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr16:4674988C>G	uc002cwz.2	+	1	163	c.27C>G	c.(25-27)ATC>ATG	p.I9M	MGRN1_uc002cxa.2_Missense_Mutation_p.I9M|MGRN1_uc010btx.2_Missense_Mutation_p.I9M|MGRN1_uc010btw.2_Missense_Mutation_p.I9M|MGRN1_uc002cxb.2_Missense_Mutation_p.I9M|MGRN1_uc010uxo.1_Missense_Mutation_p.I9M|MGRN1_uc010uxp.1_Missense_Mutation_p.I9M|MGRN1_uc010uxq.1_RNA	NM_001142290	NP_001135762	O60291	MGRN1_HUMAN	mahogunin, ring finger 1 isoform 3	9					endosome to lysosome transport|negative regulation of cAMP-mediated signaling|negative regulation of G-protein coupled receptor protein signaling pathway|protein monoubiquitination	cytosol|early endosome|nucleus|plasma membrane|plasma membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)|skin(1)	2						GCCGCCGCATCGCGGGGGTGG	0.736		NaN											0	0	0	1	0	3	14				
PPL	5493	broad.mit.edu	37	16	4945714	4945714	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr16:4945714G>A	uc002cyd.1	-	10	1066	c.976C>T	c.(976-978)CAC>TAC	p.H326Y		NM_002705	NP_002696	O60437	PEPL_HUMAN	periplakin	326	Potential.|Spectrin 2.				keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton			ovary(4)|central_nervous_system(1)|skin(1)	6						ACGTCTTCGTGAAACTAGGGG	0.582		NaN											0	0	0	1	0	38	97				
USP7	7874	broad.mit.edu	37	16	8997182	8997182	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr16:8997182G>C	uc002czl.2	-	16	1981	c.1782C>G	c.(1780-1782)TTC>TTG	p.F594L	USP7_uc010uyk.1_Missense_Mutation_p.F495L|USP7_uc002czj.2_RNA|USP7_uc010uyj.1_Missense_Mutation_p.F495L|USP7_uc002czk.2_Missense_Mutation_p.F578L|USP7_uc010uyl.1_RNA	NM_003470	NP_003461	Q93009	UBP7_HUMAN	ubiquitin specific peptidase 7	594					interspecies interaction between organisms|multicellular organismal development|protein deubiquitination|regulation of sequence-specific DNA binding transcription factor activity|ubiquitin-dependent protein catabolic process	cytoplasm|PML body	cysteine-type endopeptidase activity|p53 binding|protein C-terminus binding|transcription factor binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			ovary(3)	3						TCAATACTTTGAACACAGTGT	0.473		NaN											0	0	0	1	0	14	57				
RRN3	54700	broad.mit.edu	37	16	15157071	15157071	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr16:15157071G>C	uc002dde.2	-	17	1844	c.1776C>G	c.(1774-1776)TTC>TTG	p.F592L	PDXDC1_uc002ddc.2_Intron|RRN3_uc010uzp.1_Missense_Mutation_p.F460L|RRN3_uc010uzq.1_Missense_Mutation_p.F562L	NM_018427	NP_060897	Q9NYV6	RRN3_HUMAN	RRN3 RNA polymerase I transcription factor	592	Interaction with EIF3L.|Interaction with TWISTNB.				regulation of transcription, DNA-dependent|transcription initiation from RNA polymerase I promoter	nucleolus|nucleoplasm				ovary(1)	1						TGGGTTTCTTGAACTCCTGTA	0.403		NaN											0	0	0	1	0	33	115				
KIAA0430	9665	broad.mit.edu	37	16	15718642	15718642	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr16:15718642G>A	uc002ddr.2	-	10	2447	c.2254C>T	c.(2254-2256)CAG>TAG	p.Q752*	KIAA0430_uc002ddq.2_Nonsense_Mutation_p.Q608*|KIAA0430_uc010uzv.1_Nonsense_Mutation_p.Q748*|KIAA0430_uc010uzw.1_Nonsense_Mutation_p.Q750*	NM_014647	NP_055462	Q9Y4F3	LKAP_HUMAN	limkain b1	751						peroxisome	nucleotide binding|RNA binding				0						GACCAAGACTGAGATGCGAGC	0.393		NaN											0	0	0	1	0	28	97				
MYH11	4629	broad.mit.edu	37	16	15835629	15835629	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr16:15835629C>T	uc002ddy.2	-	21	2747	c.2640G>A	c.(2638-2640)CAG>CAA	p.Q880Q	MYH11_uc002ddv.2_Silent_p.Q887Q|MYH11_uc002ddw.2_Silent_p.Q880Q|MYH11_uc002ddx.2_Silent_p.Q887Q|MYH11_uc010bvg.2_Silent_p.Q712Q	NM_002474	NP_002465	P35749	MYH11_HUMAN	smooth muscle myosin heavy chain 11 isoform	880	Potential.				axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			ovary(6)|skin(3)|lung(2)|breast(2)|upper_aerodigestive_tract(1)|pancreas(1)	15						GCGAGTGCTTCTGTTCCAGCT	0.612		NaN	T	CBFB	AML								0	0	0	1	0	86	245				
ABCC1	4363	broad.mit.edu	37	16	16184358	16184358	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr16:16184358C>T	uc010bvi.2	+	19	2732	c.2557C>T	c.(2557-2559)CAG>TAG	p.Q853*	ABCC1_uc010bvj.2_Nonsense_Mutation_p.Q794*|ABCC1_uc010bvk.2_Nonsense_Mutation_p.Q797*|ABCC1_uc010bvl.2_Nonsense_Mutation_p.Q853*|ABCC1_uc010bvm.2_Nonsense_Mutation_p.Q738*|ABCC1_uc002del.3_Nonsense_Mutation_p.Q737*	NM_004996	NP_004987	P33527	MRP1_HUMAN	ATP-binding cassette, sub-family C, member 1	853	ABC transporter 1.|Cytoplasmic.				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)	GGGCTCCTACCAGGAGCTGCT	0.607		NaN											0	0	0	1	0	8	37				
XYLT1	64131	broad.mit.edu	37	16	17211612	17211612	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr16:17211612C>T	uc002dfa.2	-	11	2533	c.2448G>A	c.(2446-2448)CTG>CTA	p.L816L		NM_022166	NP_071449	Q86Y38	XYLT1_HUMAN	xylosyltransferase I	816	Lumenal (Potential).				glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity			ovary(4)	4						CCCCAGGCCTCAGGGGCAAGT	0.552		NaN											0	0	0	1	0	13	77				
ERN2	10595	broad.mit.edu	37	16	23703600	23703600	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr16:23703600G>C	uc002dma.3	-	18	2466	c.2297C>G	c.(2296-2298)TCT>TGT	p.S766C	ERN2_uc010bxp.2_Missense_Mutation_p.S714C	NM_033266	NP_150296	Q76MJ5	ERN2_HUMAN	endoplasmic reticulum to nucleus signalling 2	718	Protein kinase.|Cytoplasmic (Potential).				apoptosis|induction of apoptosis|mRNA processing|negative regulation of transcription, DNA-dependent|rRNA catabolic process|transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein serine/threonine kinase activity			large_intestine(2)|lung(2)|ovary(2)	6				GBM - Glioblastoma multiforme(48;0.0156)		GCTGCCACCAGAAAGCACGTA	0.567		NaN											0	0	0	1	0	32	104				
CHP2	63928	broad.mit.edu	37	16	23767007	23767007	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr16:23767007G>A	uc002dmb.1	+	2	516	c.93G>A	c.(91-93)CTG>CTA	p.L31L		NM_022097	NP_071380	O43745	CHP2_HUMAN	hepatocellular carcinoma antigen gene 520	31	EF-hand 1.						calcium ion binding			central_nervous_system(1)	1				GBM - Glioblastoma multiforme(48;0.0144)		TGCTCCGCCTGCACCACCGGT	0.637		NaN											0	0	0	1	0	22	87				
GTF3C1	2975	broad.mit.edu	37	16	27544708	27544708	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr16:27544708C>T	uc002dov.1	-	5	793	c.753G>A	c.(751-753)AGG>AGA	p.R251R	GTF3C1_uc002dou.2_Silent_p.R251R	NM_001520	NP_001511	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide	251						transcription factor TFIIIC complex	DNA binding|protein binding			ovary(2)|pancreas(1)|breast(1)|skin(1)	5						ATTTGCTCCTCCTGCAAGAAA	0.448		NaN											0	0	0	1	0	21	57				
XPO6	23214	broad.mit.edu	37	16	28167708	28167708	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr16:28167708G>T	uc002dpa.1	-	7	1285	c.784C>A	c.(784-786)CTG>ATG	p.L262M	XPO6_uc002dpb.1_Missense_Mutation_p.L248M|XPO6_uc010vcp.1_Missense_Mutation_p.L262M	NM_015171	NP_055986	Q96QU8	XPO6_HUMAN	exportin 6	262					protein export from nucleus		protein binding|protein transporter activity			ovary(1)|skin(1)	2						CTGGCAGACAGAGGAATCCAA	0.517		NaN											1	0	2.37509e-13	1	2.49598e-13	22	92				
SULT1A2	6799	broad.mit.edu	37	16	28603660	28603660	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr16:28603660C>T	uc002dqg.1	-	7	1050	c.699G>A	c.(697-699)AAG>AAA	p.K233K	uc010vct.1_Intron|SULT1A2_uc002dqh.1_Silent_p.K233K	NM_177528	NP_803564	P50226	ST1A2_HUMAN	sulfotransferase family, cytosolic, 1A,	233					3'-phosphoadenosine 5'-phosphosulfate metabolic process|amine biosynthetic process|catecholamine metabolic process|steroid metabolic process|sulfation|xenobiotic metabolic process	cytosol	aryl sulfotransferase activity|flavonol 3-sulfotransferase activity				0						TAGGGTTCTTCTTCATCTCCT	0.567		NaN											0	0	0	1	0	46	182				
SH2B1	25970	broad.mit.edu	37	16	28883708	28883708	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr16:28883708C>T	uc002dri.2	+	9	2150	c.1711C>T	c.(1711-1713)CAG>TAG	p.Q571*	uc010vct.1_Intron|SH2B1_uc010vdc.1_Nonsense_Mutation_p.Q261*|SH2B1_uc002drj.2_Nonsense_Mutation_p.Q571*|SH2B1_uc002drk.2_Nonsense_Mutation_p.Q571*|SH2B1_uc002drl.2_Nonsense_Mutation_p.Q571*|SH2B1_uc010vdd.1_Nonsense_Mutation_p.Q235*|SH2B1_uc010vde.1_Nonsense_Mutation_p.Q571*|SH2B1_uc002drm.2_Nonsense_Mutation_p.Q571*	NM_001145795	NP_001139267	Q9NRF2	SH2B1_HUMAN	SH2B adaptor protein 1 isoform 1	571	SH2.				blood coagulation|intracellular signal transduction	cytosol|membrane|nucleus	signal transducer activity			ovary(2)	2						CTTCAACTTCCAGGGCAAGGC	0.617		NaN											0	0	0	1	0	20	60				
SRCAP	10847	broad.mit.edu	37	16	30750601	30750601	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08			G	C	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr16:30750601G>C	uc002dze.1	+	34	9625	c.9240G>C	c.(9238-9240)AAG>AAC	p.K3080N	SRCAP_uc002dzf.2_RNA|SRCAP_uc002dzg.1_Missense_Mutation_p.K2875N	NM_006662	NP_006653	Q6ZRS2	SRCAP_HUMAN	Snf2-related CBP activator protein	3080					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)			GAGGACGGAAGAGTGGAGGGT	0.587		NaN											0	0	0	1	0	16	48		Valid		
ZNF646	9726	broad.mit.edu	37	16	31087769	31087769	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr16:31087769G>A	uc002eap.2	+	2	413	c.124G>A	c.(124-126)GAC>AAC	p.D42N	ZNF668_uc002eao.2_5'Flank	NM_014699	NP_055514	O15015	ZN646_HUMAN	zinc finger protein 646	42					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			breast(2)	2						TGAGGAGGCTGACAGCATCCC	0.632		NaN											0	0	0	1	0	48	117				
ITGAM	3684	broad.mit.edu	37	16	31283172	31283172	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr16:31283172C>G	uc002ebq.2	+	7	661	c.563C>G	c.(562-564)TCT>TGT	p.S188C	ITGAM_uc002ebr.2_Missense_Mutation_p.S188C	NM_000632	NP_000623	P11215	ITAM_HUMAN	integrin alpha M isoform 2 precursor	188	VWFA.|Extracellular (Potential).				blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity			kidney(1)	1						CCGCAGTTCTCTTTGATGCAG	0.517		NaN											0	0	0	1	0	16	46				
VPS35	55737	broad.mit.edu	37	16	46694412	46694412	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr16:46694412C>T	uc002eef.3	-	17	2462	c.2363G>A	c.(2362-2364)GGG>GAG	p.G788E	VPS35_uc002eed.2_3'UTR|VPS35_uc002eee.2_Missense_Mutation_p.G749E	NM_018206	NP_060676	Q96QK1	VPS35_HUMAN	vacuolar protein sorting 35	788					protein transport|retrograde transport, endosome to Golgi	cytosol|endosome|membrane	protein binding				0		all_cancers(37;7.65e-05)|all_epithelial(9;0.000154)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)				ATAAATTGGCCCCTCGGATTC	0.438		NaN											0	0	0	1	0	20	84				
ABCC12	94160	broad.mit.edu	37	16	48162609	48162609	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr16:48162609G>A	uc002efc.1	-	9	1622	c.1276C>T	c.(1276-1278)CAA>TAA	p.Q426*	ABCC12_uc002eey.1_RNA|ABCC12_uc002eez.1_RNA|ABCC12_uc002efa.1_RNA|ABCC12_uc002efb.1_RNA|ABCC12_uc002efd.1_RNA|ABCC12_uc002efe.1_Nonsense_Mutation_p.Q426*	NM_033226	NP_150229	Q96J65	MRP9_HUMAN	ATP-binding cassette protein C12	426						integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			ovary(2)|skin(1)	3		all_cancers(37;0.0474)|all_lung(18;0.047)				TCTTCTGGTTGGGTGATGTAA	0.413		NaN											0	0	0	1	0	27	90				
LONP2	83752	broad.mit.edu	37	16	48290643	48290643	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr16:48290643G>A	uc002efi.1	+	3	680	c.591G>A	c.(589-591)GAG>GAA	p.E197E	LONP2_uc010vgm.1_Intron|LONP2_uc002efj.1_Intron	NM_031490	NP_113678	Q86WA8	LONP2_HUMAN	peroxisomal LON protease-like	197	Lon.				misfolded or incompletely synthesized protein catabolic process|protein targeting to peroxisome|signal peptide processing	nucleoid|peroxisomal matrix	ATP binding|ATP-dependent peptidase activity|enzyme binding|sequence-specific DNA binding|serine-type endopeptidase activity				0						GCAACAAAGAGAAACTCCAGG	0.393		NaN											0	0	0	1	0	15	55				
CHD9	80205	broad.mit.edu	37	16	53352146	53352146	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr16:53352146G>A	uc002ehb.2	+	36	7771	c.7607G>A	c.(7606-7608)AGA>AAA	p.R2536K	CHD9_uc002egy.2_Missense_Mutation_p.R2520K|CHD9_uc002ehc.2_Missense_Mutation_p.R2521K|CHD9_uc002ehf.2_Missense_Mutation_p.R1634K|CHD9_uc010cbw.2_Missense_Mutation_p.R602K	NM_025134	NP_079410	Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	2536					cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding			lung(2)|central_nervous_system(1)|breast(1)|skin(1)|ovary(1)|kidney(1)	7		all_cancers(37;0.0212)				CATGAGGGAAGACCCAAACAA	0.338		NaN											0	0	0	1	0	3	22				
CAPNS2	84290	broad.mit.edu	37	16	55601337	55601337	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr16:55601337C>G	uc002eid.1	+	1	754	c.669C>G	c.(667-669)TTC>TTG	p.F223L	LPCAT2_uc002eie.3_Intron|LPCAT2_uc002eic.2_Intron	NM_032330	NP_115706	Q96L46	CPNS2_HUMAN	calpain small subunit 2	223	EF-hand 4.					cytoplasm|plasma membrane	calcium ion binding				0						TTCGTGCCTTCAAGTCTCTGG	0.443		NaN											0	0	0	1	0	58	153				
OGFOD1	55239	broad.mit.edu	37	16	56485527	56485527	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr16:56485527G>T	uc002ejb.2	+	1	104	c.3G>T	c.(1-3)ATG>ATT	p.M1I	OGFOD1_uc002ejc.2_Intron|NUDT21_uc002eja.2_5'Flank	NM_018233	NP_060703	Q8N543	OGFD1_HUMAN	2-oxoglutarate and iron-dependent oxygenase	1							iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			skin(1)	1					Vitamin C(DB00126)	GGGAAGAGATGAATGGGAAGC	0.587		NaN											1	0	5.20006e-24	1	5.54389e-24	42	177				
HERPUD1	9709	broad.mit.edu	37	16	56970630	56970630	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr16:56970630C>G	uc002eke.1	+	4	741	c.332C>G	c.(331-333)TCT>TGT	p.S111C	HERPUD1_uc010vhj.1_Missense_Mutation_p.S172C|HERPUD1_uc002ekf.1_Missense_Mutation_p.S110C|HERPUD1_uc002ekg.1_Missense_Mutation_p.S86C|HERPUD1_uc010cco.1_Missense_Mutation_p.S172C|HERPUD1_uc010ccp.1_Missense_Mutation_p.S171C|HERPUD1_uc002ekh.1_5'UTR	NM_014685	NP_055500	Q15011	HERP1_HUMAN	homocysteine-inducible, endoplasmic reticulum	111	Cytoplasmic (Potential).					endoplasmic reticulum membrane|integral to membrane	protein binding				0						CCTGCTGGTTCTAATCGGGGA	0.453		NaN	T	ERG	prostate								0	0	0	1	0	14	53				
GPR97	222487	broad.mit.edu	37	16	57710248	57710248	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr16:57710248C>T	uc002emh.2	+	3	446	c.343C>T	c.(343-345)CAG>TAG	p.Q115*	GPR97_uc010cdc.2_Nonsense_Mutation_p.Q115*|GPR97_uc010vhv.1_Intron|GPR97_uc010cdd.2_RNA	NM_170776	NP_740746	Q86Y34	GPR97_HUMAN	G protein-coupled receptor 97 precursor	115	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(1)	1						GGAGCCCTCTCAGGTGAAGAG	0.473		NaN											0	0	0	1	0	23	67				
RLTPR	146206	broad.mit.edu	37	16	67681650	67681650	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr16:67681650G>C	uc002etn.2	+	12	1059	c.939G>C	c.(937-939)CAG>CAC	p.Q313H	RLTPR_uc010cel.1_Missense_Mutation_p.Q313H|RLTPR_uc010vjr.1_Missense_Mutation_p.Q313H	NM_001013838	NP_001013860	Q6F5E8	LR16C_HUMAN	RGD motif, leucine rich repeats, tropomodulin	313	LRR 5.									breast(1)	1		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)		GCCTGGCCCAGACAGGGTTGA	0.657		NaN											0	0	0	1	0	4	12				
RLTPR	146206	broad.mit.edu	37	16	67683002	67683002	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr16:67683002C>G	uc002etn.2	+	18	1735	c.1615C>G	c.(1615-1617)CTG>GTG	p.L539V	RLTPR_uc010cel.1_Missense_Mutation_p.L532V|RLTPR_uc010vjr.1_Missense_Mutation_p.L503V	NM_001013838	NP_001013860	Q6F5E8	LR16C_HUMAN	RGD motif, leucine rich repeats, tropomodulin	539	LRR 11.									breast(1)	1		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)		CATGGTGACTCTGGTGCTGGC	0.617		NaN											0	0	0	1	0	14	25				
NUTF2	10204	broad.mit.edu	37	16	67899100	67899100	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr16:67899100G>C	uc002eup.2	+	2	166	c.67G>C	c.(67-69)GAT>CAT	p.D23H	NUTF2_uc010vkf.1_Missense_Mutation_p.D23H	NM_005796	NP_005787	P61970	NTF2_HUMAN	nuclear transport factor 2	23	NTF2.				protein transport	cytosol|nuclear pore	protein binding|transporter activity				0		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00443)|Epithelial(162;0.0199)|all cancers(182;0.129)		CCAGTTATTTGATAATGATAG	0.493		NaN											0	0	0	1	0	16	49				
PRMT7	54496	broad.mit.edu	37	16	68386284	68386284	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr16:68386284C>T	uc002evy.1	+	15	1823	c.1547C>T	c.(1546-1548)TCG>TTG	p.S516L	PRMT7_uc002evx.1_Missense_Mutation_p.S442L|PRMT7_uc010vlg.1_Missense_Mutation_p.S466L|PRMT7_uc002evz.1_Missense_Mutation_p.S288L|PRMT7_uc010cfd.1_Missense_Mutation_p.S8L	NM_019023	NP_061896	Q9NVM4	ANM7_HUMAN	protein arginine methyltransferase 7	516					cell differentiation|DNA methylation involved in gamete generation|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|spliceosomal snRNP assembly|transcription, DNA-dependent	cytosol|nucleus	[myelin basic protein]-arginine N-methyltransferase activity|histone methyltransferase activity (H4-R3 specific)|protein-arginine omega-N monomethyltransferase activity|protein-arginine omega-N symmetric methyltransferase activity|ribonucleoprotein binding				0		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0155)|Epithelial(162;0.0629)		CAGGCAGCCTCGCTGCACGCT	0.617		NaN											0	0	0	1	0	27	81				
CDH3	1001	broad.mit.edu	37	16	68721569	68721569	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr16:68721569C>T	uc002ewf.2	+	12	2857	c.1725C>T	c.(1723-1725)CAC>CAT	p.H575H	CDH3_uc010vli.1_Silent_p.H520H	NM_001793	NP_001784	P22223	CADH3_HUMAN	cadherin 3, type 1 preproprotein	575	Cadherin 5.|Extracellular (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion|response to stimulus|visual perception	integral to membrane	calcium ion binding	p.?(1)		ovary(3)|breast(1)|skin(1)	5		Ovarian(137;0.0564)		OV - Ovarian serous cystadenocarcinoma(108;0.000782)|Epithelial(162;0.0054)|all cancers(182;0.0384)		TGTCTCCCCACACCTCCCCTT	0.597		NaN											0	0	0	1	0	23	91				
TMCO7	79613	broad.mit.edu	37	16	68961944	68961944	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr16:68961944G>C	uc002ewi.3	+	13	2613	c.2601G>C	c.(2599-2601)CAG>CAC	p.Q867H		NM_024562	NP_078838	Q9C0B7	TMCO7_HUMAN	transmembrane and coiled-coil domains 7	867						integral to membrane	binding				0		Ovarian(137;0.0568)		OV - Ovarian serous cystadenocarcinoma(108;0.0446)|Epithelial(162;0.198)		GGATAGAGCAGAGAGAAGCAA	0.463		NaN											0	0	0	1	0	5	9				
HYDIN	54768	broad.mit.edu	37	16	70975573	70975573	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr16:70975573C>T	uc002ezr.2	-	43	6944	c.6816G>A	c.(6814-6816)ATG>ATA	p.M2272I		NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	hydrocephalus inducing isoform a	2273	Potential.									ovary(1)|skin(1)	2		Ovarian(137;0.0654)				CCTGGGCCTTCATGGCTGCGT	0.527		NaN											0	0	0	1	0	30	119				
TAT	6898	broad.mit.edu	37	16	71610277	71610277	+	Silent	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr16:71610277G>C	uc002fap.2	-	2	141	c.42C>G	c.(40-42)CTC>CTG	p.L14L	TAT_uc002faq.2_Silent_p.L14L|TAT_uc002far.2_Silent_p.L14L	NM_000353	NP_000344	P17735	ATTY_HUMAN	tyrosine aminotransferase	14					2-oxoglutarate metabolic process|glutamate metabolic process|L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	1-aminocyclopropane-1-carboxylate synthase activity|L-tyrosine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding			ovary(2)	2		Ovarian(137;0.125)		Kidney(780;0.0157)	L-Glutamic Acid(DB00142)|L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Pyridoxal Phosphate(DB00114)	GAATTGAGGGGAGGTTGCCTT	0.527		NaN											0	0	0	1	0	20	76				
PHLPP2	23035	broad.mit.edu	37	16	71718466	71718466	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr16:71718466G>A	uc002fax.2	-	4	654	c.648C>T	c.(646-648)TTC>TTT	p.F216F	PHLPP2_uc002fav.2_5'Flank|PHLPP2_uc010cgf.2_Silent_p.F216F|PHLPP2_uc002fay.1_Silent_p.F216F	NM_015020	NP_055835	Q6ZVD8	PHLP2_HUMAN	PH domain and leucine rich repeat protein	216	PH.					cytoplasm|membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity			ovary(1)|central_nervous_system(1)	2						CTGCTGAGCTGAAAGCAAGGG	0.468		NaN											0	0	0	1	0	22	77				
HP	3240	broad.mit.edu	37	16	72094738	72094738	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr16:72094738G>A	uc002fbr.3	+	7	1214	c.1170G>A	c.(1168-1170)GTG>GTA	p.V390V	TXNL4B_uc010cgl.2_Intron|HP_uc010cgm.2_Silent_p.V331V|HP_uc002fbt.3_Silent_p.V331V|HP_uc002fbu.1_Silent_p.V128V|HP_uc002fbv.3_Silent_p.V301V|HP_uc002fbw.3_Silent_p.V212V|HP_uc002fbx.3_Silent_p.V212V|HPR_uc002fby.2_5'Flank	NM_005143	NP_005134	P00738	HPT_HUMAN	haptoglobin isoform 1 preproprotein	390	Peptidase S1.				cellular iron ion homeostasis|defense response|negative regulation of hydrogen peroxide catabolic process|negative regulation of oxidoreductase activity|positive regulation of cell death|proteolysis|response to hydrogen peroxide	extracellular region|haptoglobin-hemoglobin complex	hemoglobin binding|serine-type endopeptidase activity				0		Renal(780;9.67e-05)|Ovarian(137;0.00327)|Hepatocellular(780;0.114)		BRCA - Breast invasive adenocarcinoma(221;0.00015)|Kidney(780;0.000529)		GTGTGTATGTGAAGGTGACTT	0.522		NaN											0	0	0	1	0	37	131				
ZFHX3	463	broad.mit.edu	37	16	72828402	72828402	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr16:72828402C>A	uc002fck.2	-	9	8852	c.8179G>T	c.(8179-8181)GAG>TAG	p.E2727*	ZFHX3_uc002fcl.2_Nonsense_Mutation_p.E1813*	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3 isoform A	2727	C2H2-type 20.				muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			ovary(2)|skin(2)	4		Ovarian(137;0.13)				ATATGAGCCTCAAGAGCAGTC	0.562		NaN											1	0	9.90768e-06	1	1.01352e-05	26	87				
CNTNAP4	85445	broad.mit.edu	37	16	76587302	76587302	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr16:76587302G>A	uc002feu.1	+	24	3950	c.3565G>A	c.(3565-3567)GAC>AAC	p.D1189N	CNTNAP4_uc002fev.1_Missense_Mutation_p.D1053N|CNTNAP4_uc010chb.1_Missense_Mutation_p.D1116N|CNTNAP4_uc002fex.1_Missense_Mutation_p.D1192N	NM_033401	NP_207837	Q9C0A0	CNTP4_HUMAN	cell recognition protein CASPR4 isoform 1	1189	Extracellular (Potential).|Laminin G-like 4.				cell adhesion|signal transduction	integral to membrane	receptor binding			ovary(1)|pancreas(1)	2						CAGCCACCCAGACCCTGTCAC	0.607		NaN											0	0	0	1	0	7	23				
ADAMTS18	170692	broad.mit.edu	37	16	77353980	77353980	+	Silent	SNP	C	C	T	rs149346461	byFrequency	TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr16:77353980C>T	uc002ffc.3	-	16	2717	c.2298G>A	c.(2296-2298)CCG>CCA	p.P766P	ADAMTS18_uc010chc.1_Silent_p.P354P|ADAMTS18_uc002ffe.1_Silent_p.P462P	NM_199355	NP_955387	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1	766	Spacer.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			large_intestine(4)|lung(4)|kidney(4)|skin(3)|breast(1)|ovary(1)|pancreas(1)	18						TGAGGACCACCGGATAATATT	0.473		NaN											0	0	0	1	0	6	67				
MAF	4094	broad.mit.edu	37	16	79633490	79633490	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr16:79633490C>T	uc002ffn.2	-	1	1133	c.310G>A	c.(310-312)GAG>AAG	p.E104K	MAF_uc002ffm.2_Missense_Mutation_p.E104K	NM_001031804	NP_001026974	O75444	MAF_HUMAN	v-maf musculoaponeurotic fibrosarcoma oncogene	104					transcription from RNA polymerase II promoter	chromatin|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			lung(1)	1		all_epithelial(2;0.139)|Lung NSC(2;0.186)|Melanoma(2;0.211)		UCEC - Uterine corpus endometrioid carcinoma (2;0.0178)		CCCAGCGCCTCGGGGTTCAGC	0.706		NaN	T	IGH@	MM								0	0	0	1	0	4	20				
C16orf46	123775	broad.mit.edu	37	16	81095596	81095596	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr16:81095596C>T	uc002fgc.3	-	4	617	c.358G>A	c.(358-360)GAG>AAG	p.E120K	C16orf46_uc010chf.2_Missense_Mutation_p.E120K|C16orf46_uc010vno.1_5'UTR	NM_152337	NP_689550	Q6P387	CP046_HUMAN	chromosome 16 open reading frame 46 isoform 2	120											0						GGGCCCCCCTCAGTAGGAGGC	0.607		NaN											0	0	0	1	0	44	155				
PKD1L2	114780	broad.mit.edu	37	16	81198281	81198281	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr16:81198281G>A	uc002fgh.1	-	20	3313	c.3313C>T	c.(3313-3315)CTG>TTG	p.L1105L	PKD1L2_uc002fgg.1_RNA	NM_052892	NP_443124	Q7Z442	PK1L2_HUMAN	polycystin 1-like 2 isoform a	1105	REJ.|Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			ovary(1)|central_nervous_system(1)|pancreas(1)	3						CCGCCCTCCAGAGAGCTGAGG	0.488		NaN											0	0	0	1	0	27	89				
MBTPS1	8720	broad.mit.edu	37	16	84129320	84129320	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr16:84129320G>C	uc002fhi.2	-	4	1014	c.512C>G	c.(511-513)TCT>TGT	p.S171C		NM_003791	NP_003782	Q14703	MBTP1_HUMAN	membrane-bound transcription factor site-1	171					cholesterol metabolic process|proteolysis	endoplasmic reticulum lumen|endoplasmic reticulum membrane|Golgi membrane|integral to membrane	serine-type endopeptidase activity			ovary(2)	2						CCAGAAGCCAGAGCCCAGGGA	0.617		NaN											0	0	0	1	0	32	128				
TAF1C	9013	broad.mit.edu	37	16	84215615	84215615	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr16:84215615C>T	uc002fhn.2	-	8	999	c.771G>A	c.(769-771)GGG>GGA	p.G257G	TAF1C_uc002fhm.2_Silent_p.G190G|TAF1C_uc010vnx.1_Silent_p.G257G|TAF1C_uc010vny.1_5'UTR|TAF1C_uc010vnz.1_5'UTR|TAF1C_uc002fho.2_5'UTR|TAF1C_uc010voa.1_5'UTR|TAF1C_uc002fhp.1_RNA|TAF1C_uc010vob.1_Silent_p.G257G	NM_005679	NP_005670	Q15572	TAF1C_HUMAN	TBP-associated factor 1C isoform 1	257					regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding			ovary(1)	1						GTCCAGGTTTCCCAAGGAATT	0.547		NaN											0	0	0	1	0	39	119				
CRISPLD2	83716	broad.mit.edu	37	16	84883009	84883009	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr16:84883009C>T	uc010voh.1	+	4	605	c.378C>T	c.(376-378)TTC>TTT	p.F126F	CRISPLD2_uc010vog.1_Intron|CRISPLD2_uc002fio.2_Silent_p.F126F|CRISPLD2_uc002fim.2_Silent_p.F126F|CRISPLD2_uc002fin.3_Silent_p.F126F	NM_031476	NP_113664	Q9H0B8	CRLD2_HUMAN	cysteine-rich secretory protein LCCL domain	126						extracellular region|transport vesicle					0						CTCCGGGGTTCCATGTGCAGT	0.637		NaN											0	0	0	1	0	13	59				
ZC3H18	124245	broad.mit.edu	37	16	88694373	88694373	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr16:88694373G>C	uc002fky.2	+	15	2515	c.2315G>C	c.(2314-2316)AGG>ACG	p.R772T	ZC3H18_uc010voz.1_Missense_Mutation_p.R796T|ZC3H18_uc010chw.2_Intron|ZC3H18_uc002fkz.2_Missense_Mutation_p.R42T	NM_144604	NP_653205	Q86VM9	ZCH18_HUMAN	zinc finger CCCH-type containing 18	772						nucleus	nucleic acid binding|zinc ion binding			skin(1)	1				BRCA - Breast invasive adenocarcinoma(80;0.0542)		AAGCGGAAAAGGGATTCGTCC	0.547		NaN											0	0	0	1	0	35	96				
TRAPPC2L	51693	broad.mit.edu	37	16	88926377	88926377	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr16:88926377C>G	uc002fmc.2	+	4	424	c.371C>G	c.(370-372)TCC>TGC	p.S124C	TRAPPC2L_uc010cie.2_RNA|TRAPPC2L_uc002fmd.3_Missense_Mutation_p.S124C|TRAPPC2L_uc002fme.3_Missense_Mutation_p.S94C|TRAPPC2L_uc002fmf.2_Missense_Mutation_p.S93C|uc002fmg.2_5'Flank	NM_016209	NP_057293	Q9UL33	TPC2L_HUMAN	trafficking protein particle complex 2-like	124					ER to Golgi vesicle-mediated transport	endoplasmic reticulum|Golgi apparatus|perinuclear region of cytoplasm					0				BRCA - Breast invasive adenocarcinoma(80;0.0477)		CGCATCCAGTCCAGGTGGGCC	0.502		NaN											0	0	0	1	0	36	79				
C16orf7	9605	broad.mit.edu	37	16	89777028	89777028	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr16:89777028C>T	uc002fom.1	-	10	1349	c.1224G>A	c.(1222-1224)CTG>CTA	p.L408L	C16orf7_uc002fol.1_Silent_p.L338L|uc002fon.1_5'Flank	NM_004913	NP_004904	Q9Y2B5	CP007_HUMAN	chromosome 16 open reading frame 7	408					ATP synthesis coupled proton transport		GTPase activator activity|transporter activity				0		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)		BRCA - Breast invasive adenocarcinoma(80;0.0273)		CCGCGGTCTTCAGCTGCTGCA	0.657		NaN											0	0	0	1	0	15	40				
GAS8	2622	broad.mit.edu	37	16	90106743	90106743	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr16:90106743C>T	uc002fqi.1	+	9	1169	c.1047C>T	c.(1045-1047)TTC>TTT	p.F349F	GAS8_uc010vps.1_Silent_p.F324F|GAS8_uc002fqh.2_Silent_p.F266F|GAS8_uc010vpv.1_Silent_p.F320F|GAS8_uc010cjc.1_Silent_p.F266F|GAS8_uc010vpw.1_Silent_p.F266F|GAS8_uc002fqj.1_Silent_p.F157F|LOC100130015_uc002fql.2_3'UTR|uc002fqm.1_5'Flank	NM_001481	NP_001472	O95995	GAS8_HUMAN	growth arrest-specific 8	349	Potential.				negative regulation of cell proliferation|sperm motility	cilium|Golgi apparatus|microtubule|microtubule basal body|microtubule-based flagellum	protein binding			ovary(1)	1		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.029)		ATCGGAAGTTCACCGCAGCCA	0.622		NaN											0	0	0	1	0	4	15				
YWHAE	7531	broad.mit.edu	37	17	1257622	1257622	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:1257622C>G	uc002fsj.2	-	5	750	c.598G>C	c.(598-600)GAT>CAT	p.D200H	YWHAE_uc002fsk.2_Missense_Mutation_p.D178H|YWHAE_uc010vqh.1_RNA|YWHAE_uc010vqi.1_RNA	NM_006761	NP_006752	P62258	1433E_HUMAN	tyrosine 3/tryptophan 5 -monooxygenase	200					apoptosis|G2/M transition of mitotic cell cycle|induction of apoptosis by extracellular signals|interspecies interaction between organisms|intracellular signal transduction|nerve growth factor receptor signaling pathway	cytosol|melanosome	histone deacetylase binding|phosphoserine binding			lung(2)|ovary(1)	3			OV - Ovarian serous cystadenocarcinoma(18;0.203)	UCEC - Uterine corpus endometrioid carcinoma (25;0.0887)		ATTGCATCATCAAAAGCTGCT	0.353		NaN											0	0	0	1	0	13	29				
SLC43A2	124935	broad.mit.edu	37	17	1478943	1478943	+	Silent	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:1478943G>C	uc002fsv.2	-	14	1754	c.1665C>G	c.(1663-1665)CTC>CTG	p.L555L	SLC43A2_uc002fsu.2_Silent_p.L559L	NM_152346	NP_689559	Q8N370	LAT4_HUMAN	solute carrier family 43, member 2	555					cellular nitrogen compound metabolic process|ion transport	integral to membrane|plasma membrane					0				UCEC - Uterine corpus endometrioid carcinoma (25;0.0883)		TTTTGAGGAAGAGTTTGTCAT	0.617		NaN											0	0	0	1	0	8	33				
WDR81	124997	broad.mit.edu	37	17	1639411	1639411	+	Missense_Mutation	SNP	G	G	A	rs141513894	by1000genomes	TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:1639411G>A	uc002fti.2	+	9	1984	c.1723G>A	c.(1723-1725)GTG>ATG	p.V575M	WDR81_uc002fth.2_Missense_Mutation_p.V751M|WDR81_uc010vqp.1_Missense_Mutation_p.V599M|WDR81_uc002ftj.2_Missense_Mutation_p.V1802M|WDR81_uc010vqq.1_Missense_Mutation_p.V433M	NM_001163811	NP_001157283	Q562E7	WDR81_HUMAN	WD repeat domain 81 isoform 4	575										skin(1)	1				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		CCGTAGTGTCGTGGCCGGCTT	0.667		NaN											0	0	0	1	0	28	68				
WDR81	124997	broad.mit.edu	37	17	1640893	1640893	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:1640893G>A	uc002fti.2	+	10	2320	c.2059G>A	c.(2059-2061)GGC>AGC	p.G687S	WDR81_uc002fth.2_Missense_Mutation_p.G863S|WDR81_uc010vqp.1_Missense_Mutation_p.G711S|WDR81_uc002ftj.2_Missense_Mutation_p.G1914S|WDR81_uc010vqq.1_Missense_Mutation_p.G545S	NM_001163811	NP_001157283	Q562E7	WDR81_HUMAN	WD repeat domain 81 isoform 4	687										skin(1)	1				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		GAACTTCCGCGGCACGCTCAC	0.632		NaN											0	0	0	1	0	23	64				
PAFAH1B1	5048	broad.mit.edu	37	17	2575996	2575996	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:2575996C>T	uc002fuw.3	+	7	1184	c.616C>T	c.(616-618)CAT>TAT	p.H206Y	PAFAH1B1_uc010ckb.1_RNA|PAFAH1B1_uc010vqz.1_Missense_Mutation_p.H35Y	NM_000430	NP_000421	P43034	LIS1_HUMAN	platelet-activating factor acetylhydrolase,	206	WD 3.|Interaction with dynein and dynactin.				acrosome assembly|actin cytoskeleton organization|adult locomotory behavior|brain morphogenesis|corpus callosum morphogenesis|establishment of mitotic spindle orientation|G2/M transition of mitotic cell cycle|hippocampus development|layer formation in cerebral cortex|learning or memory|lipid catabolic process|microtubule organizing center organization|mitotic prometaphase|neuroblast proliferation|neuromuscular process controlling balance|neuron migration|platelet activating factor metabolic process|regulation of Rho GTPase activity|retrograde axon cargo transport|synaptic transmission|vesicle transport along microtubule	astral microtubule|cell cortex|centrosome|cytosol|kinetochore|motile primary cilium|nuclear membrane|perinuclear region of cytoplasm	dynactin binding|heparin binding|microtubule binding|phospholipase binding|phosphoprotein binding|protein homodimerization activity			skin(1)	1						CAATGGAGATCATATAGTGTC	0.353		NaN											0	0	0	1	0	17	50				
ZZEF1	23140	broad.mit.edu	37	17	3926119	3926119	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:3926119G>A	uc002fxe.2	-	44	7160	c.7096C>T	c.(7096-7098)CAC>TAC	p.H2366Y	ZZEF1_uc002fxh.2_Missense_Mutation_p.H680Y|ZZEF1_uc002fxi.2_Missense_Mutation_p.H601Y	NM_015113	NP_055928	O43149	ZZEF1_HUMAN	zinc finger, ZZ type with EF hand domain 1	2366							calcium ion binding|zinc ion binding			ovary(2)|central_nervous_system(1)|pancreas(1)	4						TCAAAACCGTGAGCCTGCCAA	0.423		NaN											0	0	0	1	0	13	53				
ZZEF1	23140	broad.mit.edu	37	17	3945848	3945848	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:3945848C>G	uc002fxe.2	-	39	6245	c.6181G>C	c.(6181-6183)GAA>CAA	p.E2061Q	ZZEF1_uc002fxh.2_Missense_Mutation_p.E375Q|ZZEF1_uc002fxi.2_Missense_Mutation_p.E296Q|ZZEF1_uc002fxj.1_Missense_Mutation_p.E674Q	NM_015113	NP_055928	O43149	ZZEF1_HUMAN	zinc finger, ZZ type with EF hand domain 1	2061							calcium ion binding|zinc ion binding			ovary(2)|central_nervous_system(1)|pancreas(1)	4						GATGACACTTCTGAATCTTCA	0.448		NaN											0	0	0	1	0	22	63				
PELP1	27043	broad.mit.edu	37	17	4574817	4574817	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:4574817C>T	uc002fyi.3	-	17	3536	c.3310G>A	c.(3310-3312)GAC>AAC	p.D1104N	PELP1_uc010vsf.1_Missense_Mutation_p.D880N	NM_014389	NP_055204	Q8IZL8	PELP1_HUMAN	proline, glutamic acid and leucine rich protein	1104					transcription, DNA-dependent	cytoplasm|MLL1 complex	protein binding			ovary(1)|central_nervous_system(1)	2						GCAGCTGTGTCATCCTGCTCC	0.512		NaN											0	0	0	1	0	7	33				
INCA1	388324	broad.mit.edu	37	17	4891776	4891776	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:4891776G>A	uc002gaj.2	-	8	1087	c.635C>T	c.(634-636)TCG>TTG	p.S212L	CAMTA2_uc010cku.1_5'Flank|CAMTA2_uc002gag.1_5'Flank|CAMTA2_uc002gah.1_5'Flank|CAMTA2_uc002gai.1_5'Flank|CAMTA2_uc010vsu.1_5'Flank|INCA1_uc002gak.2_Missense_Mutation_p.S212L|INCA1_uc002gal.2_Missense_Mutation_p.S197L|INCA1_uc002gam.2_Missense_Mutation_p.S197L	NM_213726	NP_998891	Q0VD86	INCA1_HUMAN	inhibitor of CDK, cyclin A1 interacting protein	212						nucleus					0						AGTGCTGAACGAGGCCAGAGA	0.567		NaN											0	0	0	1	0	26	74				
SLC13A5	284111	broad.mit.edu	37	17	6589554	6589554	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:6589554C>T	uc002gdj.2	-	12	1767	c.1679G>A	c.(1678-1680)TGG>TAG	p.W560*	SLC13A5_uc010vtf.1_Nonsense_Mutation_p.W514*|SLC13A5_uc010clq.2_Nonsense_Mutation_p.W517*|SLC13A5_uc002gdk.2_Nonsense_Mutation_p.W543*	NM_177550	NP_808218	Q86YT5	S13A5_HUMAN	solute carrier family 13, member 5 isoform a	560						integral to membrane	citrate transmembrane transporter activity				0						CACATTAGCCCAGTCAGGGAA	0.473		NaN											0	0	0	1	0	36	126				
FBXO39	162517	broad.mit.edu	37	17	6683407	6683407	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:6683407G>A	uc010vtg.1	+	2	340	c.220G>A	c.(220-222)GAA>AAA	p.E74K		NM_153230	NP_694962	Q8N4B4	FBX39_HUMAN	F-box protein 39	74										ovary(1)|skin(1)	2						ACATGCATCTGAAGTTGAGTC	0.463		NaN											0	0	0	1	0	34	112				
KCTD11	147040	broad.mit.edu	37	17	7256927	7256927	+	Silent	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:7256927C>G	uc002gge.3	+	1	1720	c.666C>G	c.(664-666)CTC>CTG	p.L222L	TMEM95_uc002ggf.1_5'Flank|TMEM95_uc002ggg.1_5'Flank|TMEM95_uc002ggh.1_5'Flank	NM_001002914	NP_001002914	Q693B1	KCD11_HUMAN	potassium channel tetramerisation domain	222					cell cycle|regulation of growth	voltage-gated potassium channel complex	voltage-gated potassium channel activity				0		Prostate(122;0.157)				AAGACCTGCTCAACTCCAGGT	0.602		NaN											0	0	0	1	0	19	44				
KCTD11	147040	broad.mit.edu	37	17	7256940	7256940	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:7256940C>G	uc002gge.3	+	1	1733	c.679C>G	c.(679-681)CTG>GTG	p.L227V	TMEM95_uc002ggf.1_5'Flank|TMEM95_uc002ggg.1_5'Flank|TMEM95_uc002ggh.1_5'Flank	NM_001002914	NP_001002914	Q693B1	KCD11_HUMAN	potassium channel tetramerisation domain	227					cell cycle|regulation of growth	voltage-gated potassium channel complex	voltage-gated potassium channel activity				0		Prostate(122;0.157)				CTCCAGGTCTCTGCGCTTTGT	0.592		NaN											0	0	0	1	0	18	42				
TMEM95	339168	broad.mit.edu	37	17	7258907	7258907	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:7258907G>A	uc002ggh.1	+	2	199	c.172G>A	c.(172-174)GAG>AAG	p.E58K	TMEM95_uc002ggf.1_Missense_Mutation_p.E58K|TMEM95_uc002ggg.1_Missense_Mutation_p.E58K	NM_198154	NP_937797	Q3KNT9	TMM95_HUMAN	transmembrane protein 95	58	Extracellular (Potential).					integral to membrane					0		Prostate(122;0.173)				CTCCACAGATGAGGTGTCCAT	0.547		NaN											0	0	0	1	0	4	6				
DNAH2	146754	broad.mit.edu	37	17	7700820	7700820	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:7700820C>T	uc002giu.1	+	51	8066	c.8052C>T	c.(8050-8052)CTC>CTT	p.L2684L		NM_020877	NP_065928	Q9P225	DYH2_HUMAN	dynein heavy chain domain 3	2684					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)				TTCATCATCTCTGTCCCAGCA	0.532		NaN											0	0	0	1	0	47	183				
DNAH2	146754	broad.mit.edu	37	17	7733673	7733673	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:7733673C>T	uc002giu.1	+	77	11923	c.11909C>T	c.(11908-11910)TCC>TTC	p.S3970F	DNAH2_uc010cnm.1_Missense_Mutation_p.S908F	NM_020877	NP_065928	Q9P225	DYH2_HUMAN	dynein heavy chain domain 3	3970	AAA 6 (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)				CCACAGTTTTCCCGCTGCTCC	0.463		NaN											0	0	0	1	0	21	97				
CYB5D1	124637	broad.mit.edu	37	17	7762898	7762898	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:7762898C>G	uc002gjb.3	+	4	1044	c.655C>G	c.(655-657)CTG>GTG	p.L219V	LSMD1_uc002giz.2_5'Flank|LSMD1_uc002gja.2_5'Flank|CYB5D1_uc010cnn.1_3'UTR	NM_144607	NP_653208	Q6P9G0	CB5D1_HUMAN	cytochrome b5 domain containing 1	219							heme binding			skin(1)	1		all_cancers(10;0.11)|Prostate(122;0.219)				TGCAATACTTCTGTACTTCAA	0.448		NaN											0	0	0	1	0	30	80				
ARHGEF15	22899	broad.mit.edu	37	17	8222686	8222686	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:8222686C>T	uc002glc.2	+	14	2364	c.2243C>T	c.(2242-2244)TCC>TTC	p.S748F	ARHGEF15_uc002gld.2_Missense_Mutation_p.S748F|ARHGEF15_uc010vuw.1_Missense_Mutation_p.S637F	NM_173728	NP_776089	O94989	ARHGF_HUMAN	Rho guanine exchange factor 15	748					negative regulation of synapse maturation|regulation of Rho protein signal transduction	dendrite|intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			ovary(2)|skin(1)	3						CTTCCCTGCTCCCCAGACACC	0.552		NaN											0	0	0	1	0	62	178				
PIK3R5	23533	broad.mit.edu	37	17	8814740	8814740	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:8814740G>A	uc002glt.2	-	2	139	c.72C>T	c.(70-72)CTC>CTT	p.L24L	PIK3R5_uc010vuz.1_Silent_p.L24L|PIK3R5_uc002glu.3_5'UTR|PIK3R5_uc010coa.1_Silent_p.L24L|PIK3R5_uc010cob.1_Intron	NM_014308	NP_055123	Q8WYR1	PI3R5_HUMAN	phosphoinositide-3-kinase, regulatory subunit 5	24					platelet activation	cytosol|membrane|nucleus				breast(2)|large_intestine(1)|central_nervous_system(1)|skin(1)	5						GGCTGAGGCTGAGTCCATGCA	0.672		NaN											0	0	0	1	0	20	67				
NTN1	9423	broad.mit.edu	37	17	8926117	8926117	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:8926117G>A	uc002glw.3	+	2	534	c.427G>A	c.(427-429)GAA>AAA	p.E143K		NM_004822	NP_004813	O95631	NET1_HUMAN	netrin 1 precursor	143	Laminin N-terminal.				apoptosis|axon guidance		protein binding				0						CAAGAAGTTCGAAGTGACCTA	0.607		NaN											0	0	0	1	0	7	30				
MAP2K4	6416	broad.mit.edu	37	17	12032537	12032537	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:12032537C>A	uc002gnj.2	+	9	1042	c.973C>A	c.(973-975)CCT>ACT	p.P325T	MAP2K4_uc002gnk.2_Missense_Mutation_p.P336T|MAP2K4_uc010vvi.1_Missense_Mutation_p.P207T|MAP2K4_uc010vvj.1_Missense_Mutation_p.P197T	NM_003010	NP_003001	P45985	MP2K4_HUMAN	mitogen-activated protein kinase kinase 4	325	Protein kinase.				cellular response to mechanical stimulus|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|JUN kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.?(1)		large_intestine(14)|breast(12)|lung(8)|ovary(8)|pancreas(8)|stomach(2)|central_nervous_system(1)|biliary_tract(1)|testis(1)|endometrium(1)|urinary_tract(1)|skin(1)	58		all_cancers(5;0.0413)|Breast(5;0.000625)|all_epithelial(5;0.00978)|all_lung(20;0.0449)|Lung NSC(33;0.163)		Epithelial(2;4.12e-09)|all cancers(2;6.86e-07)|BRCA - Breast invasive adenocarcinoma(2;8.74e-07)|Colorectal(4;5.32e-05)|COAD - Colon adenocarcinoma(4;0.0039)|READ - Rectum adenocarcinoma(10;0.0681)		GAAAGGAGATCCTCCGCAGCT	0.433		NaN	D|Mis|N		pancreatic|breast|colorectal								1	0	4.7546e-09	1	4.94748e-09	14	34				
COX10	1352	broad.mit.edu	37	17	13980182	13980182	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:13980182C>T	uc002gof.3	+	3	512	c.308C>T	c.(307-309)TCA>TTA	p.S103L	COX10_uc010vvs.1_Intron|COX10_uc010vvt.1_5'UTR	NM_001303	NP_001294	Q12887	COX10_HUMAN	heme A:farnesyltransferase precursor	103					heme a biosynthetic process|heme O biosynthetic process|respiratory chain complex IV assembly	integral to membrane|mitochondrial membrane	protoheme IX farnesyltransferase activity				0		all_lung(20;0.06)|Lung SC(565;0.168)		UCEC - Uterine corpus endometrioid carcinoma (92;0.106)		AGACCTCTCTCACCGCCCAGC	0.428		NaN											0	0	0	1	0	11	61				
CCDC144A	9720	broad.mit.edu	37	17	16612513	16612513	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:16612513C>T	uc002gqk.1	+	5	1218	c.1142C>T	c.(1141-1143)TCT>TTT	p.S381F	CCDC144A_uc002gql.1_Intron|LOC162632_uc010cpj.1_5'Flank	NM_014695	NP_055510	A2RUR9	C144A_HUMAN	coiled-coil domain containing 144A	381											0						CATCCATACTCTGGGTCCCAG	0.373		NaN											0	0	0	1	0	16	58				
TOM1L2	146691	broad.mit.edu	37	17	17772713	17772713	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:17772713G>A	uc002grz.3	-	8	1009	c.852C>T	c.(850-852)GTC>GTT	p.V284V	TOM1L2_uc002gry.3_Silent_p.V234V|TOM1L2_uc010vwy.1_Silent_p.V231V|TOM1L2_uc010cpr.2_Silent_p.V239V|TOM1L2_uc010vwz.1_Silent_p.V136V|TOM1L2_uc010vxa.1_Silent_p.V186V|TOM1L2_uc010vxb.1_Silent_p.V234V|TOM1L2_uc002grv.3_Silent_p.V17V	NM_001082968	NP_001076437	Q6ZVM7	TM1L2_HUMAN	target of myb1-like 2 isoform 3	284	GAT.				intracellular protein transport	intracellular					0	all_neural(463;0.228)					GCTCCTCGGTGACCTCCTCAT	0.527		NaN											0	0	0	1	0	20	70				
SHMT1	6470	broad.mit.edu	37	17	18232688	18232688	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:18232688G>C	uc002gta.2	-	11	1376	c.1186C>G	c.(1186-1188)CTG>GTG	p.L396V	SHMT1_uc002gsz.2_Missense_Mutation_p.L171V|SHMT1_uc002gtb.2_Missense_Mutation_p.L357V|SHMT1_uc010cqb.2_Intron|SHMT1_uc010vxt.1_Missense_Mutation_p.L258V	NM_004169	NP_004160	P34896	GLYC_HUMAN	serine hydroxymethyltransferase 1 (soluble)	396					carnitine biosynthetic process|folic acid metabolic process|L-serine catabolic process|one-carbon metabolic process|purine base biosynthetic process	cytosol|nucleus	glycine hydroxymethyltransferase activity|protein homodimerization activity|pyridoxal phosphate binding			ovary(1)	1					Glycine(DB00145)|Mimosine(DB01055)|Pyridoxal Phosphate(DB00114)|Tetrahydrofolic acid(DB00116)	CTGGGCCGCAGAGCGCTTCTG	0.512		NaN											0	0	0	1	0	11	37				
VTN	7448	broad.mit.edu	37	17	26697287	26697287	+	Translation_Start_Site	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:26697287G>C	uc002hbc.2	-	1	87	c.-62C>G	c.(-64--60)ATCAG>ATGAG		SARM1_uc010wah.1_Intron|SEBOX_uc010crk.1_5'Flank|SARM1_uc010waj.1_Intron|SARM1_uc010crl.1_5'Flank	NM_000638	NP_000629	P04004	VTNC_HUMAN	vitronectin precursor						cell adhesion mediated by integrin|immune response|negative regulation of endopeptidase activity|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein binding|positive regulation of receptor-mediated endocytosis|positive regulation of smooth muscle cell migration|positive regulation of vascular endothelial growth factor receptor signaling pathway|smooth muscle cell-matrix adhesion	alphav-beta3 integrin-vitronectin complex|extracellular space	heparin binding|integrin binding|scavenger receptor activity			ovary(1)|kidney(1)	2	all_lung(13;0.000533)|Lung NSC(42;0.00171)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)	Urokinase(DB00013)	TCTCCGCTCTGATGCCTGAGG	0.597		NaN											0	0	0	1	0	16	36				
CRYBA1	1411	broad.mit.edu	37	17	27579109	27579109	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:27579109C>T	uc002hdw.2	+	4	250	c.243C>T	c.(241-243)TTC>TTT	p.F81F		NM_005208	NP_005199	P05813	CRBA1_HUMAN	crystallin, beta A3	81	Beta/gamma crystallin 'Greek key' 2.				visual perception	soluble fraction	structural constituent of eye lens				0			BRCA - Breast invasive adenocarcinoma(11;3.3e-05)|Colorectal(6;0.0178)|COAD - Colon adenocarcinoma(6;0.0551)			ATACCAGCTTCTGTGGGCAAC	0.502		NaN									OREG0024293	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	1	0	28	95				
EFCAB5	374786	broad.mit.edu	37	17	28380803	28380803	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:28380803G>C	uc002het.2	+	10	2023	c.1831G>C	c.(1831-1833)GAG>CAG	p.E611Q	EFCAB5_uc010wbi.1_Missense_Mutation_p.E354Q|EFCAB5_uc010wbj.1_Missense_Mutation_p.E555Q|EFCAB5_uc010wbk.1_Missense_Mutation_p.E268Q|EFCAB5_uc010csd.2_RNA|EFCAB5_uc010cse.2_Missense_Mutation_p.E490Q|EFCAB5_uc010csf.2_Missense_Mutation_p.E490Q	NM_198529	NP_940931	A4FU69	EFCB5_HUMAN	EF-hand calcium binding domain 5 isoform a	611							calcium ion binding			ovary(1)|skin(1)	2						GTCACGCAGAGAGTCTATTGC	0.478		NaN											0	0	0	1	0	54	140				
AP2B1	163	broad.mit.edu	37	17	33977735	33977735	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:33977735C>T	uc002hjr.2	+	13	1912	c.1723C>T	c.(1723-1725)CAT>TAT	p.H575Y	AP2B1_uc002hjq.2_Missense_Mutation_p.H575Y|AP2B1_uc010wci.1_Missense_Mutation_p.H537Y|AP2B1_uc002hjs.2_Missense_Mutation_p.H518Y|AP2B1_uc002hjt.2_Missense_Mutation_p.H575Y|AP2B1_uc010ctv.2_Missense_Mutation_p.H575Y|AP2B1_uc010wcj.1_Missense_Mutation_p.H312Y	NM_001282	NP_001273	P63010	AP2B1_HUMAN	adaptor-related protein complex 2, beta 1	575					axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|vesicle-mediated transport|viral reproduction	clathrin adaptor complex|coated pit|cytosol|endocytic vesicle membrane|plasma membrane	clathrin binding|protein transporter activity			ovary(1)	1		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)		CTCTGTGTATCATAAGCCTCC	0.463		NaN											0	0	0	1	0	46	106				
DDX52	11056	broad.mit.edu	37	17	36003428	36003428	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:36003428G>A	uc002hoi.1	-	1	60	c.22C>T	c.(22-24)CGC>TGC	p.R8C	DDX52_uc002hoh.1_5'UTR|DDX52_uc002hoj.1_5'Flank	NM_007010	NP_008941	Q9Y2R4	DDX52_HUMAN	ATP-dependent RNA helicase ROK1 isoform a	8						nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding			ovary(1)|skin(1)	2		Breast(25;0.00637)|Ovarian(249;0.15)				CCGAGCCGGCGAAAGAGATCG	0.637		NaN											0	0	0	1	0	12	66				
GPR179	440435	broad.mit.edu	37	17	36484647	36484647	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:36484647C>G	uc002hpz.2	-	11	4826	c.4805G>C	c.(4804-4806)AGA>ACA	p.R1602T		NM_001004334	NP_001004334	Q6PRD1	GP179_HUMAN	GPR158-like 1 precursor	1602	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(3)	3	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				CCATTCCTCTCTTGTTCTTTC	0.498		NaN											0	0	0	1	0	54	191				
GPR179	440435	broad.mit.edu	37	17	36485920	36485920	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:36485920C>G	uc002hpz.2	-	11	3553	c.3532G>C	c.(3532-3534)GAC>CAC	p.D1178H		NM_001004334	NP_001004334	Q6PRD1	GP179_HUMAN	GPR158-like 1 precursor	1178	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(3)	3	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				CTGCCTCTGTCTTCTTGTTCC	0.552		NaN											0	0	0	1	0	73	248				
GPR179	440435	broad.mit.edu	37	17	36486038	36486038	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:36486038C>T	uc002hpz.2	-	11	3435	c.3414G>A	c.(3412-3414)GTG>GTA	p.V1138V		NM_001004334	NP_001004334	Q6PRD1	GP179_HUMAN	GPR158-like 1 precursor	1138	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(3)	3	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				CCTGCTTACTCACCGCCTTGG	0.632		NaN											0	0	0	1	0	37	126				
GPR179	440435	broad.mit.edu	37	17	36486125	36486125	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:36486125C>T	uc002hpz.2	-	11	3348	c.3327G>A	c.(3325-3327)GAG>GAA	p.E1109E		NM_001004334	NP_001004334	Q6PRD1	GP179_HUMAN	GPR158-like 1 precursor	1109	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(3)	3	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				CCTCGGGACTCTCCTCCACAC	0.652		NaN											0	0	0	1	0	20	63				
GPR179	440435	broad.mit.edu	37	17	36486274	36486274	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:36486274C>T	uc002hpz.2	-	11	3199	c.3178G>A	c.(3178-3180)GAT>AAT	p.D1060N		NM_001004334	NP_001004334	Q6PRD1	GP179_HUMAN	GPR158-like 1 precursor	1060	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(3)	3	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				TCGTCCACATCATTAGCTTCC	0.572		NaN											0	0	0	1	0	34	70				
GPR179	440435	broad.mit.edu	37	17	36486362	36486362	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:36486362C>A	uc002hpz.2	-	11	3111	c.3090G>T	c.(3088-3090)TGG>TGT	p.W1030C		NM_001004334	NP_001004334	Q6PRD1	GP179_HUMAN	GPR158-like 1 precursor	1030	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(3)	3	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				AGAGGGCCCTCCAGAGCCTGG	0.602		NaN											1	0	1.2476e-16	1	1.32012e-16	28	77				
MED1	5469	broad.mit.edu	37	17	37564794	37564794	+	Missense_Mutation	SNP	G	G	A	rs144178898		TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:37564794G>A	uc002hrv.3	-	17	3892	c.3680C>T	c.(3679-3681)TCA>TTA	p.S1227L	MED1_uc010wee.1_Missense_Mutation_p.S1055L|MED1_uc002hru.2_Intron	NM_004774	NP_004765	Q15648	MED1_HUMAN	mediator complex subunit 1	1227	Ser-rich.				androgen biosynthetic process|androgen receptor signaling pathway|cellular lipid metabolic process|fat cell differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|estrogen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|receptor activity|retinoic acid receptor binding|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			lung(2)|ovary(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	8		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)		ACCAGAACCTGAACTGATAGG	0.507		NaN								HNSCC(31;0.082)			0	0	0	1	0	20	68				
CDC6	990	broad.mit.edu	37	17	38449865	38449865	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:38449865C>T	uc002huj.1	+	5	1028	c.818C>T	c.(817-819)GCA>GTA	p.A273V		NM_001254	NP_001245	Q99741	CDC6_HUMAN	cell division cycle 6 protein	273					cell division|DNA replication|DNA replication checkpoint|M/G1 transition of mitotic cell cycle|mitosis|negative regulation of cell proliferation|negative regulation of DNA replication|positive regulation of cell cycle cytokinesis|positive regulation of chromosome segregation|regulation of cyclin-dependent protein kinase activity|regulation of mitotic anaphase|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|traversing start control point of mitotic cell cycle	cytosol|nucleoplasm|spindle midzone|spindle pole	ATP binding|kinase binding|nucleoside-triphosphatase activity			ovary(2)|breast(1)	3						CATATGACTGCAGAGAAGGGC	0.428		NaN											0	0	0	1	0	12	34				
KRT24	192666	broad.mit.edu	37	17	38859916	38859916	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:38859916G>A	uc002hvd.2	-	1	87	c.30C>T	c.(28-30)TCC>TCT	p.S10S		NM_019016	NP_061889	Q2M2I5	K1C24_HUMAN	keratin 24	10	Head.					cytoplasm|intermediate filament	structural molecule activity				0		Breast(137;0.00526)				CTCCAGCCCTGGAGGAGGAGG	0.607		NaN											0	0	0	1	0	15	49				
KRTAP4-11	653240	broad.mit.edu	37	17	39274150	39274150	+	Missense_Mutation	SNP	T	T	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:39274150T>A	uc002hvz.2	-	1	457	c.418A>T	c.(418-420)AGC>TGC	p.S140C		NM_033059	NP_149048	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	140	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].					keratin filament					0		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			ctggagatgctgcagctgggg	0.129		NaN											0	0	0	1	0	4	50				
ACLY	47	broad.mit.edu	37	17	40068700	40068700	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:40068700C>T	uc002hyg.2	-	3	418	c.255G>A	c.(253-255)CTG>CTA	p.L85L	ACLY_uc002hyh.2_Silent_p.L85L|ACLY_uc002hyi.2_Silent_p.L139L|ACLY_uc010wfx.1_Silent_p.L139L|ACLY_uc010wfy.1_Silent_p.L85L	NM_001096	NP_001087	P53396	ACLY_HUMAN	ATP citrate lyase isoform 1	85					ATP catabolic process|cellular carbohydrate metabolic process|citrate metabolic process|coenzyme A metabolic process|energy reserve metabolic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	citrate lyase complex|cytosol|nucleus	ATP binding|ATP citrate synthase activity|citrate (pro-3S)-lyase activity|metal ion binding|protein binding|succinate-CoA ligase (ADP-forming) activity			ovary(2)|central_nervous_system(1)	3		Breast(137;0.000143)				GCCGTGGCTTCAGCCAGGACT	0.547		NaN											0	0	0	1	0	25	109				
NKIRAS2	28511	broad.mit.edu	37	17	40175730	40175730	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:40175730C>G	uc002hyq.2	+	4	460	c.395C>G	c.(394-396)CCA>CGA	p.P132R	NKIRAS2_uc010wgd.1_3'UTR|NKIRAS2_uc002hyr.2_Missense_Mutation_p.P132R|NKIRAS2_uc002hys.2_Missense_Mutation_p.P132R|NKIRAS2_uc010wge.1_Missense_Mutation_p.P76R|NKIRAS2_uc002hyt.2_Missense_Mutation_p.P132R	NM_001001349	NP_001001349	Q9NYR9	KBRS2_HUMAN	NFKB inhibitor interacting Ras-like 2 isoform a	132	Small GTPase-like.				I-kappaB kinase/NF-kappaB cascade|small GTPase mediated signal transduction	cytoplasm	GTP binding|GTPase activity			ovary(1)	1		all_cancers(22;1.1e-05)|Breast(137;0.000143)|all_epithelial(22;0.000319)				CGTGTAGACCCAGATGTGGCT	0.587		NaN											0	0	0	1	0	14	87				
COASY	80347	broad.mit.edu	37	17	40716787	40716787	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:40716787G>C	uc002hzz.2	+	5	1265	c.1108G>C	c.(1108-1110)GGG>CGG	p.G370R	COASY_uc010cyj.2_Missense_Mutation_p.G399R|COASY_uc002iab.2_Missense_Mutation_p.G75R|COASY_uc002iad.2_Missense_Mutation_p.G370R|COASY_uc002iac.2_Missense_Mutation_p.G370R|COASY_uc002iae.2_Missense_Mutation_p.G165R|MLX_uc002iaf.2_5'Flank|MLX_uc002iag.2_5'Flank|MLX_uc002iah.2_5'Flank	NM_001042529	NP_001035994	Q13057	COASY_HUMAN	coenzyme A synthase isoform a	370	DPCK.|ATP (Potential).				coenzyme A biosynthetic process|pantothenate metabolic process	mitochondrial outer membrane	ATP binding|dephospho-CoA kinase activity|pantetheine-phosphate adenylyltransferase activity				0		all_cancers(22;1.06e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344)		BRCA - Breast invasive adenocarcinoma(366;0.13)		CAGTGGCTCTGGGAAGAGCTC	0.587		NaN											0	0	0	1	0	56	153				
CCR10	2826	broad.mit.edu	37	17	40831665	40831665	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:40831665G>A	uc002iax.3	-	2	999	c.995C>T	c.(994-996)TCA>TTA	p.S332L	PLEKHH3_uc002iau.2_5'Flank|PLEKHH3_uc002iav.2_5'Flank|PLEKHH3_uc010cym.1_5'Flank|PLEKHH3_uc002iaw.2_5'Flank|CNTNAP1_uc002iay.2_5'Flank|CNTNAP1_uc010wgs.1_5'Flank	NM_016602	NP_057686	P46092	CCR10_HUMAN	CC chemokine receptor 10	332	Cytoplasmic (Potential).					integral to plasma membrane					0		Breast(137;0.000153)		BRCA - Breast invasive adenocarcinoma(366;0.14)		TTGAGGCCCTGAGGGGCAGCT	0.562		NaN											0	0	0	1	0	12	49				
CCR10	2826	broad.mit.edu	37	17	40831709	40831709	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:40831709G>A	uc002iax.3	-	2	955	c.951C>T	c.(949-951)TTC>TTT	p.F317F	PLEKHH3_uc002iau.2_5'Flank|PLEKHH3_uc002iav.2_5'Flank|PLEKHH3_uc010cym.1_5'Flank|PLEKHH3_uc002iaw.2_5'Flank|CNTNAP1_uc002iay.2_5'Flank|CNTNAP1_uc010wgs.1_5'Flank	NM_016602	NP_057686	P46092	CCR10_HUMAN	CC chemokine receptor 10	317	Cytoplasmic (Potential).					integral to plasma membrane					0		Breast(137;0.000153)		BRCA - Breast invasive adenocarcinoma(366;0.14)		GGTCCTGGCGGAAGCGCAGGC	0.557		NaN											0	0	0	1	0	11	41				
CCR10	2826	broad.mit.edu	37	17	40831733	40831733	+	Silent	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:40831733G>C	uc002iax.3	-	2	931	c.927C>G	c.(925-927)CTC>CTG	p.L309L	PLEKHH3_uc002iau.2_5'Flank|PLEKHH3_uc002iav.2_5'Flank|PLEKHH3_uc010cym.1_5'Flank|PLEKHH3_uc002iaw.2_5'Flank|CNTNAP1_uc002iay.2_5'Flank|CNTNAP1_uc010wgs.1_5'Flank	NM_016602	NP_057686	P46092	CCR10_HUMAN	CC chemokine receptor 10	309	Helical; Name=7; (Potential).					integral to plasma membrane					0		Breast(137;0.000153)		BRCA - Breast invasive adenocarcinoma(366;0.14)		GGAAGGCGTAGAGAACGGGAT	0.617		NaN											0	0	0	1	0	5	40				
CCR10	2826	broad.mit.edu	37	17	40831760	40831760	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:40831760G>A	uc002iax.3	-	2	904	c.900C>T	c.(898-900)CTC>CTT	p.L300L	PLEKHH3_uc002iau.2_5'Flank|PLEKHH3_uc002iav.2_5'Flank|PLEKHH3_uc010cym.1_5'Flank|PLEKHH3_uc002iaw.2_5'Flank|CNTNAP1_uc002iay.2_5'Flank|CNTNAP1_uc010wgs.1_5'Flank	NM_016602	NP_057686	P46092	CCR10_HUMAN	CC chemokine receptor 10	300	Helical; Name=7; (Potential).					integral to plasma membrane					0		Breast(137;0.000153)		BRCA - Breast invasive adenocarcinoma(366;0.14)		CACAGCGGGCGAGGGCCAAGC	0.682		NaN											0	0	0	1	0	6	35				
CCR10	2826	broad.mit.edu	37	17	40831892	40831892	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:40831892G>A	uc002iax.3	-	2	772	c.768C>T	c.(766-768)TTC>TTT	p.F256F	PLEKHH3_uc002iau.2_5'Flank|PLEKHH3_uc002iav.2_5'Flank|PLEKHH3_uc010cym.1_5'Flank|PLEKHH3_uc002iaw.2_5'Flank|CNTNAP1_uc002iay.2_5'Flank|CNTNAP1_uc010wgs.1_5'Flank	NM_016602	NP_057686	P46092	CCR10_HUMAN	CC chemokine receptor 10	256	Helical; Name=6; (Potential).					integral to plasma membrane					0		Breast(137;0.000153)		BRCA - Breast invasive adenocarcinoma(366;0.14)		GCAGCACCACGAAGGCCGCCA	0.711		NaN											0	0	0	1	0	5	18				
EZH1	2145	broad.mit.edu	37	17	40864325	40864325	+	Silent	SNP	C	C	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:40864325C>A	uc002iaz.2	-	12	1528	c.1383G>T	c.(1381-1383)GGG>GGT	p.G461G	EZH1_uc002iba.2_Silent_p.G452G|EZH1_uc010wgt.1_Silent_p.G391G|EZH1_uc010wgu.1_Silent_p.G467G|EZH1_uc010wgv.1_Silent_p.G421G|EZH1_uc010wgw.1_Silent_p.G322G|EZH1_uc010cyp.2_Silent_p.G362G|EZH1_uc010cyq.2_Silent_p.G378G|EZH1_uc010cyo.1_Silent_p.G124G|EZH1_uc010cyr.1_Silent_p.G113G	NM_001991	NP_001982	Q92800	EZH1_HUMAN	enhancer of zeste homolog 1	461					anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	chromatin binding|DNA binding			ovary(3)	3		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0784)		ACGTCTTGGTCCCCAGAAGCC	0.532		NaN											1	0	1.96895e-08	1	2.0463e-08	24	94				
WNK4	65266	broad.mit.edu	37	17	40947953	40947953	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:40947953G>A	uc002ibj.2	+	16	3354	c.3333G>A	c.(3331-3333)ATG>ATA	p.M1111I	WNK4_uc010wgx.1_Missense_Mutation_p.M775I|CCDC56_uc010wgz.1_Missense_Mutation_p.S102L|CNTD1_uc002ibm.3_5'Flank|CNTD1_uc010wha.1_5'Flank	NM_032387	NP_115763	Q96J92	WNK4_HUMAN	WNK lysine deficient protein kinase 4	1111					intracellular protein kinase cascade	tight junction	ATP binding|protein serine/threonine kinase activity			ovary(3)|skin(3)|stomach(1)	7		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		CAGTGTGGATGAACTACTCCT	0.587		NaN											0	0	0	1	0	24	61				
RUNDC1	146923	broad.mit.edu	37	17	41143537	41143537	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:41143537A>G	uc002ici.1	+	5	1658	c.1646A>G	c.(1645-1647)CAG>CGG	p.Q549R	RUNDC1_uc010whi.1_Missense_Mutation_p.Q319R	NM_173079	NP_775102	Q96C34	RUND1_HUMAN	RUN domain containing 1	549	RUN.										0		Breast(137;0.00499)		BRCA - Breast invasive adenocarcinoma(366;0.161)		CTGAATGAGCAGCGTCTGGTG	0.547		NaN											0	0	0	1	0	17	57				
VAT1	10493	broad.mit.edu	37	17	41174209	41174209	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:41174209G>T	uc002icm.1	-	1	251	c.131C>A	c.(130-132)TCG>TAG	p.S44*	VAT1_uc010cyw.1_5'Flank|VAT1_uc010whk.1_Nonsense_Mutation_p.S44*	NM_006373	NP_006364	Q99536	VAT1_HUMAN	vesicle amine transport protein 1	44						cytoplasm|integral to membrane	oxidoreductase activity|zinc ion binding				0		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.156)		cagtggcggcgaggcggcggc	0.443		NaN											1	0	0.00909568	1	0.00916606	3	8				
ETV4	2118	broad.mit.edu	37	17	41610076	41610076	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:41610076G>A	uc002idw.2	-	8	905	c.777C>T	c.(775-777)ATC>ATT	p.I259I	ETV4_uc002idv.2_5'Flank|ETV4_uc010wih.1_Silent_p.I205I|ETV4_uc010czh.2_Silent_p.I258I|ETV4_uc010wii.1_Silent_p.I220I|ETV4_uc002idx.2_Silent_p.I259I|ETV4_uc010wij.1_Silent_p.I220I	NM_001986	NP_001977	P43268	ETV4_HUMAN	ets variant gene 4 (E1A enhancer binding	259					positive regulation of transcription, DNA-dependent	nucleolus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		EWSR1/ETV4(6)	bone(4)|soft_tissue(2)|ovary(1)	7		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.0798)		GTTCCTGTTTGATCACCACCC	0.587		NaN	T	EWSR1|TMPRSS2|DDX5|KLK2|CANT1	Ewing sarcoma|Prostate carcinoma								0	0	0	1	0	31	98				
UBTF	7343	broad.mit.edu	37	17	42289312	42289312	+	Silent	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:42289312G>C	uc002igb.2	-	8	901	c.834C>G	c.(832-834)ACC>ACG	p.T278T	UBTF_uc002igc.2_Silent_p.T241T|UBTF_uc010czs.2_Silent_p.T278T|UBTF_uc002igd.2_Silent_p.T241T|UBTF_uc010czt.2_Silent_p.T278T|UBTF_uc002ige.2_Silent_p.T241T	NM_014233	NP_055048	P17480	UBF1_HUMAN	upstream binding transcription factor, RNA	278					positive regulation of transcription from RNA polymerase I promoter|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleolus|nucleoplasm	DNA binding|protein binding				0		Breast(137;0.00765)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.114)		GGGTGGACTTGGTGATACCCT	0.612		NaN											0	0	0	1	0	35	124				
SLC25A39	51629	broad.mit.edu	37	17	42398044	42398044	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:42398044C>T	uc002ign.2	-	9	901	c.747G>A	c.(745-747)CCG>CCA	p.P249P	SLC25A39_uc002igm.2_Silent_p.P241P|SLC25A39_uc002igo.2_Silent_p.P241P|SLC25A39_uc010wiw.1_Silent_p.P226P|SLC25A39_uc010czu.2_Silent_p.P117P|SLC25A39_uc010wix.1_3'UTR|SLC25A39_uc010wiy.1_3'UTR	NM_001143780	NP_001137252	Q9BZJ4	S2539_HUMAN	solute carrier family 25, member 39 isoform a	249					heme biosynthetic process|transport	integral to membrane|mitochondrial inner membrane				upper_aerodigestive_tract(1)	1		Prostate(33;0.0233)		BRCA - Breast invasive adenocarcinoma(366;0.189)		TCTGGTCCTTCGGCCTGAACC	0.597		NaN											0	0	0	1	0	51	121				
HEXIM1	10614	broad.mit.edu	37	17	43227467	43227467	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:43227467G>A	uc002iig.2	+	1	2784	c.910G>A	c.(910-912)GAG>AAG	p.E304K		NM_006460	NP_006451	O94992	HEXI1_HUMAN	hexamethylene bis-acetamide inducible 1	304	Mediates interaction with CCNT1.|Potential.				negative regulation of cyclin-dependent protein kinase activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	cyclin-dependent protein kinase inhibitor activity|protein binding|snRNA binding			ovary(1)	1						CATGGAGGACGAGAACAACCG	0.647		NaN											0	0	0	1	0	16	163				
SKAP1	8631	broad.mit.edu	37	17	46262095	46262095	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:46262095C>T	uc002ini.1	-	7	669	c.557G>A	c.(556-558)CGC>CAC	p.R186H	SKAP1_uc002inj.1_Missense_Mutation_p.R186H|SKAP1_uc010dbd.1_Missense_Mutation_p.R92H|SKAP1_uc010dbe.1_Missense_Mutation_p.R186H	NM_003726	NP_003717	Q86WV1	SKAP1_HUMAN	src kinase associated phosphoprotein 1 isoform	186	PH.				positive regulation of transcription from RNA polymerase II promoter|T cell receptor signaling pathway	cytoplasm|nucleus|plasma membrane	antigen binding|protein kinase binding|SH2 domain binding				0						CTCATAGCTGCGCCTATCCTG	0.522		NaN											0	0	0	1	0	60	136				
HOXB8	3218	broad.mit.edu	37	17	46691686	46691686	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:46691686C>G	uc002inw.2	-	1	616	c.381G>C	c.(379-381)CAG>CAC	p.Q127H		NM_024016	NP_076921	P17481	HXB8_HUMAN	homeobox B8	127						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0						GCGACGGGCTCTGCTCGGAGC	0.706		NaN											0	0	0	1	0	7	27				
DLX4	1748	broad.mit.edu	37	17	48046847	48046847	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:48046847C>T	uc002ipv.2	+	1	286	c.15C>T	c.(13-15)CCC>CCT	p.P5P		NM_138281	NP_612138	Q92988	DLX4_HUMAN	distal-less homeobox 4 isoform a	5				MTSLPCPLPGRDASKAVFPDLAPVPSVAAAYPLGLSPTTAA SPNLSYSRPYGHLLSYPYTEPANPGDSYLSCQQPAALSQPL CGPAEHPQELEA -> GGSLSLPPEPLCARCPTKEGAAPRR PGFWGSLETQAATVWRGRHGHFSCRVRLSRGAARYSRRGQG KPGVTISAARLVFKVLSAGPLTHPAGRSRRLPRGHRLKPLS IALSLCLQCPSSVISRPRLSPGPSLSAPPYPKLAPPPVAEL RPPTAGAAVPWLWPSARFLPRVTGPIRVGAPLGAELRLVSP GAVNVGVETLHAE (in Ref. 9).	multicellular organismal development	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0						CCTCTTTGCCCTGCCCCCTCC	0.677		NaN											0	0	0	1	0	39	164				
SAMD14	201191	broad.mit.edu	37	17	48194939	48194939	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:48194939C>T	uc002iqg.2	-	4	630	c.331G>A	c.(331-333)GAG>AAG	p.E111K	SAMD14_uc002iqd.2_5'UTR|SAMD14_uc002iqe.2_5'UTR|SAMD14_uc002iqf.2_Missense_Mutation_p.E111K	NM_174920	NP_777580	Q8IZD0	SAM14_HUMAN	sterile alpha motif domain containing 14	111											0						GGCTCGTCCTCGTCCAGGCTG	0.761		NaN											0	0	0	1	0	3	9				
MYCBPAP	84073	broad.mit.edu	37	17	48600299	48600299	+	Splice_Site	SNP	G	G	A	rs56367701		TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:48600299G>A	uc010wmr.1	+	11	1549	c.1387_splice	c.e11-1	p.R463_splice	MYCBPAP_uc002iqz.2_Splice_Site	NM_032133	NP_115509	Q8TBZ2	MYBPP_HUMAN	Myc-binding protein-associated protein						cell differentiation|multicellular organismal development|spermatogenesis|synaptic transmission	cytoplasm|membrane	protein binding			urinary_tract(2)|skin(2)|ovary(1)|pancreas(1)	6	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;1.23e-09)			CCTCCTTCCAGAGGCAGGTTG	0.373		NaN											0	0	0	1	0	23	72				
SPATA20	64847	broad.mit.edu	37	17	48632592	48632592	+	Splice_Site	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:48632592G>C	uc002irf.2	+	15	2251	c.2110_splice	c.e15-1	p.I704_splice	SPATA20_uc002irc.2_Splice_Site_p.I371_splice|SPATA20_uc002ire.2_Splice_Site_p.I660_splice|SPATA20_uc002ird.2_Splice_Site_p.I720_splice|SPATA20_uc002irg.2_Splice_Site	NM_022827	NP_073738	Q8TB22	SPT20_HUMAN	spermatogenesis associated 20						cell differentiation|mannose metabolic process|multicellular organismal development|spermatogenesis	extracellular region	mannose-6-phosphate isomerase activity|protein binding				0	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;9.38e-09)			ATTCCGGTCAGATCGTGATCT	0.592		NaN											0	0	0	1	0	11	39				
ABCC3	8714	broad.mit.edu	37	17	48741345	48741345	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:48741345C>T	uc002isl.2	+	10	1291	c.1211C>T	c.(1210-1212)TCC>TTC	p.S404F	ABCC3_uc002isk.3_Missense_Mutation_p.S404F|ABCC3_uc002ism.2_Silent_p.V116V	NM_003786	NP_003777	O15438	MRP3_HUMAN	ATP-binding cassette, sub-family C, member 3	404	Cytoplasmic (By similarity).|ABC transmembrane type-1 1.				bile acid metabolic process	integral to plasma membrane|membrane fraction	ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity			skin(3)|central_nervous_system(1)	4			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Glibenclamide(DB01016)	AAACGTGCGTCCACTGTGGGG	0.577		NaN											0	0	0	1	0	54	68				
WFIKKN2	124857	broad.mit.edu	37	17	48917594	48917594	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:48917594G>C	uc002isv.3	+	2	1639	c.945G>C	c.(943-945)GAG>GAC	p.E315D	WFIKKN2_uc010dbu.2_Missense_Mutation_p.E222D	NM_175575	NP_783165	Q8TEU8	WFKN2_HUMAN	WFIKKN2 protein	315						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)			CCACCTCAGAGAGCAGCCCCA	0.662		NaN											0	0	0	1	0	22	72				
MBTD1	54799	broad.mit.edu	37	17	49270356	49270356	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:49270356G>A	uc002itr.3	-	15	1821	c.1477C>T	c.(1477-1479)CGT>TGT	p.R493C	MBTD1_uc002itp.3_Missense_Mutation_p.R329C|MBTD1_uc002itq.3_3'UTR	NM_017643	NP_060113	Q05BQ5	MBTD1_HUMAN	mbt domain containing 1	493	MBT 4.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			ovary(2)	2			BRCA - Breast invasive adenocarcinoma(22;1.54e-08)			ATTCCTACACGAAATCCGTGA	0.363		NaN											0	0	0	1	0	33	86				
CA10	56934	broad.mit.edu	37	17	50235295	50235295	+	Translation_Start_Site	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:50235295C>T	uc002itw.3	-	1	838	c.-148G>A	c.(-150--146)GGGTG>GGATG		CA10_uc002itv.3_Translation_Start_Site|CA10_uc002itx.3_Translation_Start_Site|CA10_uc002ity.3_Translation_Start_Site|CA10_uc002itz.2_Translation_Start_Site	NM_020178	NP_064563	Q9NS85	CAH10_HUMAN	carbonic anhydrase X						brain development					ovary(1)|skin(1)	2			BRCA - Breast invasive adenocarcinoma(22;4.74e-06)			GGGACAGTCACCCCCAAGATC	0.612		NaN											0	0	0	1	0	11	22				
DGKE	8526	broad.mit.edu	37	17	54940071	54940071	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:54940071G>A	uc002iur.2	+	12	1803	c.1623G>A	c.(1621-1623)ATG>ATA	p.M541I	DGKE_uc002ius.1_3'UTR	NM_003647	NP_003638	P52429	DGKE_HUMAN	diacylglycerol kinase epsilon	541					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|phospholipid biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding|protein binding			breast(2)	2	Breast(9;3.59e-07)					CACATGCAATGATGTTATATT	0.453		NaN											0	0	0	1	0	18	10				
MPO	4353	broad.mit.edu	37	17	56358002	56358002	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:56358002G>C	uc002ivu.1	-	1	295	c.118C>G	c.(118-120)CTG>GTG	p.L40V		NM_000250	NP_000241	P05164	PERM_HUMAN	myeloperoxidase	40					anti-apoptosis|hydrogen peroxide catabolic process|low-density lipoprotein particle remodeling	extracellular space|lysosome|nucleus|stored secretory granule	chromatin binding|heme binding|heparin binding|peroxidase activity			ovary(2)|large_intestine(1)|pancreas(1)	4					Cefdinir(DB00535)	GGCGTGGCCAGAATGGCCAGG	0.582		NaN											0	0	0	1	0	23	80				
HSF5	124535	broad.mit.edu	37	17	56540327	56540327	+	Missense_Mutation	SNP	G	G	C	rs145817491		TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:56540327G>C	uc002iwi.1	-	4	1482	c.1358C>G	c.(1357-1359)TCT>TGT	p.S453C		NM_001080439	NP_001073908	Q4G112	HSF5_HUMAN	heat shock transcription factor family member 5	453						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.S453F(1)		ovary(2)|skin(1)	3	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CTGTGGTAGAGAGCAGGCAAC	0.483		NaN											0	0	0	1	0	29	96				
MTMR4	9110	broad.mit.edu	37	17	56569025	56569025	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:56569025C>T	uc002iwj.2	-	19	3697	c.3587G>A	c.(3586-3588)TGA>TAA	p.*1196*		NM_004687	NP_004678	Q9NYA4	MTMR4_HUMAN	myotubularin related protein 4	1196						cytoplasm|membrane	metal ion binding|protein tyrosine phosphatase activity			skin(1)	1	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CCCCGGCATTCAACTGGAAGC	0.468		NaN											0	0	0	1	0	19	57				
HEATR6	63897	broad.mit.edu	37	17	58128216	58128216	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:58128216G>A	uc002iyk.1	-	15	2429	c.2412C>T	c.(2410-2412)TTC>TTT	p.F804F	HEATR6_uc010ddk.1_Silent_p.F343F|HEATR6_uc010wos.1_Silent_p.F524F	NM_022070	NP_071353	Q6AI08	HEAT6_HUMAN	HEAT repeat containing 6	804							binding			ovary(1)|skin(1)	2	all_cancers(5;2.25e-13)|Breast(5;4.84e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		BRCA - Breast invasive adenocarcinoma(1;5.93e-19)|Epithelial(12;7.59e-12)|all cancers(12;1.26e-10)			GCAGATTGCTGAAGGCCTCTG	0.502		NaN											0	0	0	1	0	15	51				
CA4	762	broad.mit.edu	37	17	58234821	58234821	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:58234821C>T	uc002iym.3	+	4	396	c.302C>T	c.(301-303)TCT>TTT	p.S101F	CA4_uc010wou.1_Intron	NM_000717	NP_000708	P22748	CAH4_HUMAN	carbonic anhydrase IV precursor	101					bicarbonate transport|one-carbon metabolic process	anchored to external side of plasma membrane|apical plasma membrane|brush border membrane|ER-Golgi intermediate compartment|membrane fraction|perinuclear region of cytoplasm|rough endoplasmic reticulum|secretory granule membrane|trans-Golgi network|transport vesicle membrane	carbonate dehydratase activity|protein binding|zinc ion binding				0	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;3.83e-12)|all cancers(12;6.83e-11)		Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Topiramate(DB00273)|Trichlormethiazide(DB01021)	GCCAGCATTTCTGGAGGAGGA	0.587		NaN											0	0	0	1	0	22	89				
BRIP1	83990	broad.mit.edu	37	17	59770842	59770842	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:59770842G>C	uc002izk.1	-	18	2665	c.2524C>G	c.(2524-2526)CTT>GTT	p.L842V	BRIP1_uc002izl.1_Missense_Mutation_p.L223V	NM_032043	NP_114432	Q9BX63	FANCJ_HUMAN	BRCA1 interacting protein C-terminal helicase 1	842					DNA damage checkpoint|double-strand break repair|regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding			ovary(1)	1						ACTAGAATAAGAGCTCCCCAA	0.353		NaN	F|N|Mis			AML|leukemia|breast		Direct_reversal_of_damage|Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi_Anemia				0	0	0	1	0	17	44				
MED13	9969	broad.mit.edu	37	17	60059866	60059866	+	Silent	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:60059866G>C	uc002izo.2	-	16	3575	c.3498C>G	c.(3496-3498)CTC>CTG	p.L1166L		NM_005121	NP_005112	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	1166					androgen 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|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			large_intestine(1)|ovary(1)	2						AGGTAGCCCTGAGAGCTTCAA	0.348		NaN											0	0	0	1	0	21	109				
MED13	9969	broad.mit.edu	37	17	60140470	60140470	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:60140470C>T	uc002izo.2	-	2	336	c.259G>A	c.(259-261)GAA>AAA	p.E87K		NM_005121	NP_005112	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	87					androgen 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|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			large_intestine(1)|ovary(1)	2						CTGGGGTCTTCACCCCACCAA	0.418		NaN											0	0	0	1	0	28	69				
TLK2	11011	broad.mit.edu	37	17	60685465	60685465	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:60685465G>A	uc010ddp.2	+	22	2369	c.2101G>A	c.(2101-2103)GAA>AAA	p.E701K	TLK2_uc002izx.3_Missense_Mutation_p.E527K|TLK2_uc002izz.3_Missense_Mutation_p.E679K|TLK2_uc002jaa.3_Missense_Mutation_p.E647K|TLK2_uc010wpd.1_Missense_Mutation_p.E647K	NM_006852	NP_006843	Q86UE8	TLK2_HUMAN	tousled-like kinase 2 isoform A	701	Protein kinase.				cell cycle|chromatin modification|intracellular signal transduction|regulation of chromatin assembly or disassembly|response to DNA damage stimulus	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			stomach(1)|kidney(1)	2						TAAAGCTACTGAAGTGCAGTT	0.423		NaN											0	0	0	1	0	9	28				
ACE	1636	broad.mit.edu	37	17	61560831	61560831	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:61560831C>T	uc002jau.1	+	10	1520	c.1498C>T	c.(1498-1500)CAG>TAG	p.Q500*	ACE_uc010wpi.1_Silent_p.I451I|ACE_uc010ddu.1_Nonsense_Mutation_p.Q317*|ACE_uc002jav.1_5'Flank|ACE_uc010ddv.1_5'Flank|ACE_uc010wpj.1_5'Flank|ACE_uc002jaw.1_5'Flank|ACE_uc010wpk.1_5'Flank	NM_000789	NP_000780	P12821	ACE_HUMAN	angiotensin I converting enzyme 1 isoform 1	500	Extracellular (Potential).|Peptidase M2 1.				arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration	endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane	actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding			ovary(2)|upper_aerodigestive_tract(1)|pancreas(1)	4					Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)	AACCAAGTATCAGGGGATCTG	0.448		NaN											0	0	0	1	0	23	76				
KCNH6	81033	broad.mit.edu	37	17	61601526	61601526	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:61601526C>T	uc002jay.2	+	2	183	c.103C>T	c.(103-105)CAG>TAG	p.Q35*	KCNH6_uc002jax.1_Nonsense_Mutation_p.Q35*|KCNH6_uc010wpl.1_5'UTR|KCNH6_uc010wpm.1_Nonsense_Mutation_p.Q35*|KCNH6_uc002jaz.1_Nonsense_Mutation_p.Q35*	NM_030779	NP_110406	Q9H252	KCNH6_HUMAN	potassium voltage-gated channel, subfamily H,	35	Cytoplasmic (Potential).				regulation of transcription, DNA-dependent|signal transduction					skin(1)	1					Ibutilide(DB00308)	TGCCAATGCTCAGATGGAGAA	0.567		NaN											0	0	0	1	0	83	275				
FTSJ3	117246	broad.mit.edu	37	17	61901514	61901514	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:61901514C>G	uc002jbz.2	-	11	1162	c.1084G>C	c.(1084-1086)GAG>CAG	p.E362Q	FTSJ3_uc002jca.2_Missense_Mutation_p.E362Q	NM_017647	NP_060117	Q8IY81	RRMJ3_HUMAN	FtsJ homolog 3	362					RNA methylation|rRNA processing	nucleolus	methyltransferase activity|nucleic acid binding			ovary(1)	1						tcctcctcctcttcctcctcc	0.458		NaN											0	0	0	1	0	51	177				
CCDC45	90799	broad.mit.edu	37	17	62533747	62533747	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:62533747G>A	uc002jem.2	+	20	2374	c.2316G>A	c.(2314-2316)CTG>CTA	p.L772L	CCDC45_uc002jen.2_RNA|CCDC45_uc010wqb.1_Silent_p.L608L	NM_138363	NP_612372	Q96GE4	CEP95_HUMAN	coiled-coil domain containing 45	772	Potential.					centrosome|spindle pole	protein binding				0	Breast(5;1.32e-14)		BRCA - Breast invasive adenocarcinoma(8;8.6e-12)			AGAGGGAGCTGAGATCTAAGA	0.453		NaN											0	0	0	1	0	12	26				
RGS9	8787	broad.mit.edu	37	17	63156421	63156421	+	Silent	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:63156421C>G	uc002jfe.2	+	4	386	c.276C>G	c.(274-276)CTC>CTG	p.L92L	RGS9_uc010dem.2_Silent_p.L92L|RGS9_uc002jfd.2_Silent_p.L92L|RGS9_uc002jff.2_RNA	NM_003835	NP_003826	O75916	RGS9_HUMAN	regulator of G-protein signaling 9 isoform 1	92	DEP.				intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway|visual perception	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity			ovary(2)|skin(2)	4						CCAAGAATCTCATTCTCAAGC	0.478		NaN											0	0	0	1	0	24	84				
AXIN2	8313	broad.mit.edu	37	17	63545744	63545744	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:63545744G>A	uc002jfi.2	-	3	1139	c.850C>T	c.(850-852)CAC>TAC	p.H284Y	AXIN2_uc010den.1_Missense_Mutation_p.H284Y|AXIN2_uc002jfh.2_Missense_Mutation_p.H284Y	NM_004655	NP_004646	Q9Y2T1	AXIN2_HUMAN	axin 2	284					cellular protein localization|cellular response to organic cyclic compound|dorsal/ventral axis specification|intramembranous ossification|maintenance of DNA repeat elements|mRNA stabilization|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of cell proliferation|negative regulation of osteoblast differentiation|odontogenesis|positive regulation of cell death|positive regulation of epithelial to mesenchymal transition|positive regulation of protein phosphorylation|regulation of centromeric sister chromatid cohesion|regulation of mismatch repair|Wnt receptor signaling pathway involved in somitogenesis	Axin-APC-beta-catenin-GSK3B complex|cell cortex|centrosome|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|nucleus|plasma membrane|postsynaptic density	armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding			central_nervous_system(1)|skin(1)	2						GAACCTATGTGATAAGGATTA	0.502		NaN							Oligodontia_Ectodermal_Dysplasia_and_Colorectal_Polyp_syndrome				0	0	0	1	0	6	23				
WIPI1	55062	broad.mit.edu	37	17	66423333	66423333	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:66423333G>A	uc010dey.2	-	11	1226	c.1135C>T	c.(1135-1137)CAG>TAG	p.Q379*	WIPI1_uc002jhd.3_RNA|WIPI1_uc010wqo.1_Nonsense_Mutation_p.Q297*|WIPI1_uc002jhe.3_RNA|MIR635_hsa-mir-635|MI0003650_5'Flank	NM_017983	NP_060453	Q5MNZ9	WIPI1_HUMAN	WD repeat domain, phosphoinositide interacting	379					macroautophagy|vesicle targeting, trans-Golgi to endosome	autophagic vacuole membrane|clathrin-coated vesicle|cytosol|endosome membrane|PAS complex|pre-autophagosomal structure membrane|trans-Golgi network	androgen receptor binding|estrogen receptor binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding				0						GCATAAGACTGAGGTAAGGAA	0.502		NaN											0	0	0	1	0	21	86				
PRKAR1A	5573	broad.mit.edu	37	17	66526076	66526076	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:66526076C>G	uc002jhg.2	+	10	1087	c.907C>G	c.(907-909)CTA>GTA	p.L303V	PRKAR1A_uc002jhh.2_Missense_Mutation_p.L303V|PRKAR1A_uc002jhi.2_Missense_Mutation_p.L303V|PRKAR1A_uc002jhj.2_Missense_Mutation_p.L303V|PRKAR1A_uc002jhk.2_Missense_Mutation_p.L179V|PRKAR1A_uc002jhl.2_Missense_Mutation_p.L303V|PRKAR1A_uc002jhm.2_Missense_Mutation_p.L303V	NM_212471	NP_997636	P10644	KAP0_HUMAN	cAMP-dependent protein kinase, regulatory	303	cAMP 2.				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|intracellular signal transduction|nerve growth factor receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter|transmembrane transport|water transport	cAMP-dependent protein kinase complex|cytosol	cAMP binding|cAMP-dependent protein kinase regulator activity|protein binding			adrenal_gland(4)|lung(3)|thyroid(2)|soft_tissue(2)|breast(1)	12	Breast(10;1.64e-13)					AGCTGCTGTGCTACAACGTCG	0.393		NaN	T|Mis|N|F|S	RET	papillary thyroid	myxoma|endocrine|papillary thyroid			Carney_Complex|Primary_Pigmented_Nodular_Adrenocortical_Disease_Familial|Cardiac_Myxomas_Familial_Clustering_of				0	0	0	1	0	34	103				
ABCA8	10351	broad.mit.edu	37	17	66890330	66890331	+	Nonsense_Mutation	DNP	CT	CT	TA			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:66890330_66890331CT>TA	uc002jhp.2	-	21	3078_3079	c.2899_2900AG>TA	c.(2899-2901)AGA>TAA	p.R967*	ABCA8_uc002jhq.2_Nonsense_Mutation_p.R1007*|ABCA8_uc010wqq.1_Nonsense_Mutation_p.R1007*|ABCA8_uc010wqr.1_Nonsense_Mutation_p.R946*|ABCA8_uc002jhr.2_Nonsense_Mutation_p.R1007*	NM_007168	NP_009099	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A member 8	967						integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			ovary(2)|skin(1)	3	Breast(10;4.56e-13)					AAATGTACTTCTTTCAGTTCGG	0.366		NaN											0	0	0	1	0	5	25				
ABCA8	10351	broad.mit.edu	37	17	66890366	66890366	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:66890366C>A	uc002jhp.2	-	21	3043	c.2864G>T	c.(2863-2865)GGA>GTA	p.G955V	ABCA8_uc002jhq.2_Missense_Mutation_p.G995V|ABCA8_uc010wqq.1_Missense_Mutation_p.G995V|ABCA8_uc010wqr.1_Missense_Mutation_p.G934V|ABCA8_uc002jhr.2_Missense_Mutation_p.G995V	NM_007168	NP_009099	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A member 8	955						integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			ovary(2)|skin(1)	3	Breast(10;4.56e-13)					TTTAACCATTCCAAGTAGCCC	0.343		NaN											1	0	3.59834e-05	1	3.66325e-05	6	24				
ABCA10	10349	broad.mit.edu	37	17	67152011	67152011	+	Missense_Mutation	SNP	C	C	G	rs140554607		TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:67152011C>G	uc010dfa.1	-	30	4390	c.3511G>C	c.(3511-3513)GAT>CAT	p.D1171H	ABCA10_uc010wqs.1_Missense_Mutation_p.D163H|ABCA10_uc010wqt.1_RNA	NM_080282	NP_525021	Q8WWZ4	ABCAA_HUMAN	ATP-binding cassette, sub-family A, member 10	1171					transport	integral to membrane	ATP binding|ATPase activity			ovary(2)|central_nervous_system(1)|skin(1)	4	Breast(10;6.95e-12)					ACATCTTCATCTTCTTCTTCG	0.423		NaN											0	0	0	1	0	18	95				
CD300LD	100131439	broad.mit.edu	37	17	72584728	72584728	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:72584728C>A	uc002jkz.2	-	2	330	c.301G>T	c.(301-303)GAT>TAT	p.D101Y	C17orf77_uc002jla.1_Intron	NM_001115152	NP_001108624	Q6UXZ3	CLM4_HUMAN	CD300 molecule-like family member d precursor	101	Extracellular (Potential).|Ig-like V-type.					integral to membrane|plasma membrane	receptor activity				0						CTGTCAGCATCATCTCTTTTG	0.443		NaN											1	0	9.31168e-06	1	9.53124e-06	14	155				
NUP85	79902	broad.mit.edu	37	17	73208116	73208116	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:73208116C>T	uc002jng.1	+	4	580	c.320C>T	c.(319-321)TCA>TTA	p.S107L	NUP85_uc010dgd.1_Missense_Mutation_p.S107L|NUP85_uc010wrv.1_Missense_Mutation_p.S61L	NM_024844	NP_079120	Q9BW27	NUP85_HUMAN	nucleoporin 85	107					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|nuclear membrane|Nup107-160 complex|spindle	protein binding			ovary(1)	1	all_lung(278;0.14)|Lung NSC(278;0.168)		all cancers(21;3.45e-06)			AACTACCGATCAGTCATCAGA	0.209		NaN											0	0	0	1	0	6	35				
MRPS7	51081	broad.mit.edu	37	17	73258675	73258675	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:73258675G>A	uc002jnm.3	+	2	414	c.181G>A	c.(181-183)GAG>AAG	p.E61K	GGA3_uc002jni.1_5'Flank|GGA3_uc002jnj.1_5'Flank|GGA3_uc010wrw.1_5'Flank|GGA3_uc002jnk.1_5'Flank|GGA3_uc010wrx.1_5'Flank|GGA3_uc010wry.1_5'Flank|GGA3_uc010wrz.1_5'Flank|MRPS7_uc002jnl.2_Missense_Mutation_p.E61K|MRPS7_uc002jnn.3_Missense_Mutation_p.E90K	NM_015971	NP_057055	Q9Y2R9	RT07_HUMAN	mitochondrial ribosomal protein S7 precursor	61					translation	cytosolic small ribosomal subunit|mitochondrion	protein binding|RNA binding|structural constituent of ribosome	p.E61E(1)		central_nervous_system(1)	1	all_cancers(13;1.25e-07)|all_epithelial(9;2.63e-08)|Breast(9;1.06e-07)		all cancers(21;3.02e-07)|Epithelial(20;2.92e-06)			GCTAACTGAGGAGGAGAAATA	0.473		NaN											0	0	0	1	0	45	188				
ITGB4	3691	broad.mit.edu	37	17	73725400	73725400	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:73725400C>T	uc002jpg.2	+	7	808	c.621C>T	c.(619-621)ATC>ATT	p.I207I	ITGB4_uc002jph.2_Silent_p.I207I|ITGB4_uc010dgo.2_Silent_p.I207I|ITGB4_uc002jpi.3_Silent_p.I207I|ITGB4_uc010dgp.1_Silent_p.I207I|ITGB4_uc002jpj.2_Silent_p.I207I|ITGB4_uc010wsh.1_5'Flank	NM_000213	NP_000204	P16144	ITB4_HUMAN	integrin beta 4 isoform 1 precursor	207	VWFA.|Extracellular (Potential).				cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding	cell leading edge|cell surface|hemidesmosome|integrin complex	protein binding|receptor activity			lung(4)	4	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			AGAACGTCATCAGCCTGACAG	0.597		NaN											0	0	0	1	0	19	79				
FBF1	85302	broad.mit.edu	37	17	73919562	73919562	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:73919562C>G	uc002jqc.2	-	13	1358	c.1084G>C	c.(1084-1086)GAG>CAG	p.E362Q	FBF1_uc002jqa.1_RNA|FBF1_uc010wsp.1_Missense_Mutation_p.E353Q|FBF1_uc002jqd.1_Missense_Mutation_p.E363Q|FBF1_uc010dgr.1_5'Flank	NM_001080542	NP_001074011	Q8TES7	FBF1_HUMAN	Fas (TNFRSF6) binding factor 1	362											0						CGATGGGCCTCTCTGGTGGGT	0.652		NaN											0	0	0	1	0	4	14				
DNAH17	8632	broad.mit.edu	37	17	76422558	76422558	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:76422558C>G	uc010dhp.1	-	24	4117	c.3895G>C	c.(3895-3897)GAC>CAC	p.D1299H	DNAH17_uc002jvq.2_Missense_Mutation_p.D584H|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)			AGCAGCAGGTCTGCGTACCAG	0.627		NaN											0	0	0	1	0	14	31				
DNAH17	8632	broad.mit.edu	37	17	76557991	76557991	+	Silent	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:76557991G>C	uc002jvv.1	-	8	853	c.747C>G	c.(745-747)GTC>GTG	p.V249V						RecName: Full=Dynein heavy chain 17, axonemal; AltName: Full=Axonemal beta dynein heavy chain 17; AltName: Full=Ciliary dynein heavy chain 17; AltName: Full=Ciliary dynein heavy chain-like protein 1; AltName: Full=Axonemal dynein heavy chain-like protein 1; AltName: Full=Dynein light chain 2, axonemal;											ovary(6)|breast(2)|skin(1)	9			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			GCTCCAGCATGACTGAATACC	0.577		NaN											0	0	0	1	0	7	31				
USP36	57602	broad.mit.edu	37	17	76831483	76831483	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:76831483G>A	uc002jvz.1	-	4	679	c.354C>T	c.(352-354)TTC>TTT	p.F118F	USP36_uc002jwa.1_Silent_p.F118F|USP36_uc002jwd.1_Silent_p.F118F	NM_025090	NP_079366	Q9P275	UBP36_HUMAN	ubiquitin specific peptidase 36	118					ubiquitin-dependent protein catabolic process	nucleolus	cysteine-type peptidase activity|ubiquitin thiolesterase activity			lung(2)|ovary(1)|breast(1)|kidney(1)	5			BRCA - Breast invasive adenocarcinoma(99;0.000842)|OV - Ovarian serous cystadenocarcinoma(97;0.151)			CGCCCACGCGGAAGACCCGCT	0.592		NaN											0	0	0	1	0	9	41				
CCDC40	55036	broad.mit.edu	37	17	78061848	78061848	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:78061848G>A	uc010dht.2	+	16	2685	c.2658G>A	c.(2656-2658)CTG>CTA	p.L886L	CCDC40_uc002jxm.3_Silent_p.L669L|CCDC40_uc002jxn.3_Silent_p.L282L	NM_017950	NP_060420	Q4G0X9	CCD40_HUMAN	coiled-coil domain containing 40	886	Potential.				axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium|cytoplasm				ovary(3)	3	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)			AGGACAAGCTGAACCAGCTCA	0.617		NaN											0	0	0	1	0	18	57				
RNF213	57674	broad.mit.edu	37	17	78328356	78328356	+	Silent	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:78328356C>G	uc002jyh.1	+	11	5284	c.5061C>G	c.(5059-5061)CTC>CTG	p.L1687L	uc002jyi.1_RNA|RNF213_uc010dhw.1_Silent_p.L69L	NM_020914	NP_065965	Q9HCF4	ALO17_HUMAN	ring finger protein 213	Error:Variant_position_missing_in_Q9HCF4_after_alignment										ovary(8)|lung(6)|breast(3)|large_intestine(2)|central_nervous_system(1)|pancreas(1)	21	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			AGGACGCTCTCCAGGAGGCGG	0.547		NaN											0	0	0	1	0	14	52				
NOTUM	147111	broad.mit.edu	37	17	79918540	79918540	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:79918540C>T	uc010wvg.1	-	1	518	c.246G>A	c.(244-246)GCG>GCA	p.A82A		NM_178493	NP_848588	Q6P988	NOTUM_HUMAN	notum pectinacetylesterase homolog precursor	82						extracellular region	hydrolase activity				0	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)			TGAGCTGCTGCGCGGAGCAGG	0.662		NaN											0	0	0	1	0	9	18				
ASPSCR1	79058	broad.mit.edu	37	17	79941448	79941448	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:79941448C>T	uc002kcx.2	+	3	274	c.177C>T	c.(175-177)CTC>CTT	p.L59L	ASPSCR1_uc002kcw.1_Silent_p.L59L|ASPSCR1_uc002kcy.2_Silent_p.L59L|ASPSCR1_uc002kcz.2_Silent_p.L59L|ASPSCR1_uc002kda.2_5'UTR|ASPSCR1_uc002kdb.1_5'UTR	NM_024083	NP_076988	Q9BZE9	ASPC1_HUMAN	alveolar soft part sarcoma chromosome region,	59							protein binding		ASPSCR1/TFE3(161)	soft_tissue(118)|kidney(43)|breast(1)	162	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191)			GGAGCGTGCTCGACCTTTCTC	0.483		NaN	T	TFE3	alveolar soft part sarcoma								0	0	0	1	0	9	21				
LRRC45	201255	broad.mit.edu	37	17	79988621	79988621	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:79988621G>A	uc002kde.2	+	17	2193	c.1953G>A	c.(1951-1953)CAG>CAA	p.Q651Q	RAC3_uc002kdf.2_5'Flank	NM_144999	NP_659436	Q96CN5	LRC45_HUMAN	leucine rich repeat containing 45	651						centrosome				pancreas(1)	1	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191)			GCTTCCTGCAGAACGCCGTCC	0.697		NaN											0	0	0	1	0	12	15				
SLC16A3	9123	broad.mit.edu	37	17	80196577	80196577	+	Splice_Site	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:80196577G>A	uc002kea.2	+	5	1263	c.1124_splice	c.e5-1	p.G375_splice	SLC16A3_uc002kee.2_Intron|SLC16A3_uc002keb.2_Splice_Site_p.G375_splice|SLC16A3_uc002kec.2_Splice_Site_p.G375_splice|SLC16A3_uc002ked.2_Splice_Site_p.G375_splice	NM_001042422	NP_001035887	O15427	MOT4_HUMAN	solute carrier family 16, member 3						blood coagulation|leukocyte migration|organic anion transport|pyruvate metabolic process	actin cytoskeleton|integral to plasma membrane|membrane fraction|nuclear membrane	secondary active monocarboxylate transmembrane transporter activity|symporter activity			upper_aerodigestive_tract(1)|lung(1)	2	Breast(20;0.00285)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.227)		OV - Ovarian serous cystadenocarcinoma(97;0.00463)|BRCA - Breast invasive adenocarcinoma(99;0.0149)		Pyruvic acid(DB00119)	TCTTCCCGCAGGCAAACTCCT	0.642		NaN											0	0	0	1	0	10	19				
FN3K	64122	broad.mit.edu	37	17	80708323	80708323	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:80708323G>C	uc010wvs.1	+	6	683	c.622G>C	c.(622-624)GAG>CAG	p.E208Q	TBCD_uc002kfx.1_5'Flank|TBCD_uc002kfy.1_5'Flank|TBCD_uc002kfz.2_5'Flank	NM_022158	NP_071441	Q9H479	FN3K_HUMAN	fructosamine 3 kinase	208					fructoselysine metabolic process		fructosamine-3-kinase activity				0	Breast(20;0.000523)|all_neural(118;0.0952)		BRCA - Breast invasive adenocarcinoma(99;0.0344)|OV - Ovarian serous cystadenocarcinoma(97;0.061)			TTGTGGCCTAGAGATTGTCCC	0.582		NaN											0	0	0	1	0	34	102				
ZNF750	79755	broad.mit.edu	37	17	80788081	80788081	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:80788081C>G	uc002kga.2	-	3	2420	c.2109G>C	c.(2107-2109)AAG>AAC	p.K703N	TBCD_uc002kfx.1_Intron|TBCD_uc002kfy.1_Intron|TBCD_uc002kfz.2_Intron	NM_024702	NP_078978	Q32MQ0	ZN750_HUMAN	zinc finger protein 750	703						intracellular	zinc ion binding			central_nervous_system(1)	1	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0514)|all_epithelial(8;0.0748)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149)			GCTTCGCCTTCTTAGCTCCTT	0.567		NaN											0	0	0	1	0	30	93				
ZNF750	79755	broad.mit.edu	37	17	80788126	80788126	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:80788126C>G	uc002kga.2	-	3	2375	c.2064G>C	c.(2062-2064)AAG>AAC	p.K688N	TBCD_uc002kfx.1_Intron|TBCD_uc002kfy.1_Intron|TBCD_uc002kfz.2_Intron	NM_024702	NP_078978	Q32MQ0	ZN750_HUMAN	zinc finger protein 750	688						intracellular	zinc ion binding			central_nervous_system(1)	1	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0514)|all_epithelial(8;0.0748)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149)			GACTTGTCCTCTTTTGTCCTT	0.592		NaN											0	0	0	1	0	38	103				
ZNF750	79755	broad.mit.edu	37	17	80788419	80788419	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:80788419C>G	uc002kga.2	-	3	2082	c.1771G>C	c.(1771-1773)GAG>CAG	p.E591Q	TBCD_uc002kfx.1_Intron|TBCD_uc002kfy.1_Intron|TBCD_uc002kfz.2_Intron	NM_024702	NP_078978	Q32MQ0	ZN750_HUMAN	zinc finger protein 750	591						intracellular	zinc ion binding			central_nervous_system(1)	1	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0514)|all_epithelial(8;0.0748)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149)			GGCCCATCCTCAGAACCTTCT	0.677		NaN											0	0	0	1	0	24	89				
ZNF750	79755	broad.mit.edu	37	17	80789062	80789062	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:80789062C>T	uc002kga.2	-	2	1580	c.1269G>A	c.(1267-1269)ACG>ACA	p.T423T	TBCD_uc002kfx.1_Intron|TBCD_uc002kfy.1_Intron|TBCD_uc002kfz.2_Intron	NM_024702	NP_078978	Q32MQ0	ZN750_HUMAN	zinc finger protein 750	423						intracellular	zinc ion binding			central_nervous_system(1)	1	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0514)|all_epithelial(8;0.0748)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149)			AGGTCTGGCTCGTCTGCATGA	0.652		NaN											0	0	0	1	0	37	110				
ZNF750	79755	broad.mit.edu	37	17	80789532	80789532	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:80789532C>G	uc002kga.2	-	2	1110	c.799G>C	c.(799-801)GAG>CAG	p.E267Q	TBCD_uc002kfx.1_Intron|TBCD_uc002kfy.1_Intron|TBCD_uc002kfz.2_Intron	NM_024702	NP_078978	Q32MQ0	ZN750_HUMAN	zinc finger protein 750	267						intracellular	zinc ion binding			central_nervous_system(1)	1	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0514)|all_epithelial(8;0.0748)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149)			GCGTCACACTCAGGCGAGCTC	0.612		NaN											0	0	0	1	0	38	118				
ZNF750	79755	broad.mit.edu	37	17	80790213	80790213	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:80790213G>C	uc002kga.2	-	2	429	c.118C>G	c.(118-120)CTT>GTT	p.L40V	TBCD_uc002kfx.1_Intron|TBCD_uc002kfy.1_Intron|TBCD_uc002kfz.2_Intron	NM_024702	NP_078978	Q32MQ0	ZN750_HUMAN	zinc finger protein 750	40						intracellular	zinc ion binding			central_nervous_system(1)	1	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0514)|all_epithelial(8;0.0748)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149)			TGATTAAAAAGATGTGACTTC	0.418		NaN											0	0	0	1	0	71	62				
COLEC12	81035	broad.mit.edu	37	18	346722	346722	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr18:346722G>A	uc002kkm.2	-	5	1115	c.900C>T	c.(898-900)ATC>ATT	p.I300I		NM_130386	NP_569057	Q5KU26	COL12_HUMAN	collectin sub-family member 12	300	Potential.|Extracellular (Potential).				carbohydrate mediated signaling|innate immune response|phagocytosis, recognition|protein homooligomerization	collagen|integral to membrane	galactose binding|low-density lipoprotein particle binding|metal ion binding|pattern recognition receptor activity|scavenger receptor activity			ovary(1)|pancreas(1)	2		all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426)				AGATAGTGGTGATGTTCTCCA	0.502		NaN											0	0	0	1	0	19	65				
EMILIN2	84034	broad.mit.edu	37	18	2891158	2891158	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr18:2891158G>A	uc002kln.2	+	4	1192	c.1033G>A	c.(1033-1035)GAG>AAG	p.E345K		NM_032048	NP_114437	Q9BXX0	EMIL2_HUMAN	elastin microfibril interfacer 2 precursor	345					cell adhesion	collagen	extracellular matrix constituent conferring elasticity|protein binding			skin(2)|ovary(1)	3				READ - Rectum adenocarcinoma(2;0.1)		AAACTCATGTGAGTACAAGCT	0.522		NaN											0	0	0	1	0	38	123				
EPB41L3	23136	broad.mit.edu	37	18	5397426	5397426	+	Splice_Site	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr18:5397426C>G	uc002kmt.1	-	18	2559	c.2473_splice	c.e18-1	p.K825_splice	EPB41L3_uc010wzh.1_Splice_Site_p.K656_splice|EPB41L3_uc002kmu.1_Splice_Site_p.K603_splice|EPB41L3_uc010dkq.1_Splice_Site_p.K494_splice|EPB41L3_uc002kms.1_Splice_Site_p.K60_splice|EPB41L3_uc010wze.1_Splice_Site_p.K130_splice|EPB41L3_uc010wzf.1_Splice_Site_p.K122_splice|EPB41L3_uc010wzg.1_Splice_Site_p.K97_splice|EPB41L3_uc010dkr.2_Splice_Site_p.K217_splice	NM_012307	NP_036439	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3						cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity			ovary(5)	5						TTTCCATTTTCTGCATGGGAA	0.517		NaN											0	0	0	1	0	24	87				
LRRC30	339291	broad.mit.edu	37	18	7231348	7231348	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr18:7231348C>A	uc010wzk.1	+	1	212	c.212C>A	c.(211-213)TCC>TAC	p.S71Y		NM_001105581	NP_001099051	A6NM36	LRC30_HUMAN	leucine rich repeat containing 30	71										ovary(1)|liver(1)	2						TGGGGCTTGTCCGAGGTCCAG	0.607		NaN											1	0	1.9806e-07	1	2.0496e-07	23	75				
TWSG1	57045	broad.mit.edu	37	18	9396492	9396492	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr18:9396492G>C	uc002knz.2	+	4	629	c.438G>C	c.(436-438)CAG>CAC	p.Q146H	TWSG1_uc002koa.2_Missense_Mutation_p.Q71H	NM_020648	NP_065699	Q9GZX9	TWSG1_HUMAN	twisted gastrulation precursor	146										ovary(1)|pancreas(1)	2						CACACCACCAGAATGTGTCTG	0.443		NaN											0	0	0	1	0	17	60				
CIDEA	1149	broad.mit.edu	37	18	12264384	12264384	+	Missense_Mutation	SNP	G	G	C	rs139948292		TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr18:12264384G>C	uc002kqt.3	+	3	327	c.262G>C	c.(262-264)GAG>CAG	p.E88Q	CIDEA_uc002kqu.3_Missense_Mutation_p.E122Q|CIDEA_uc010dlc.2_RNA	NM_001279	NP_001270	O60543	CIDEA_HUMAN	cell death-inducing DFFA-like effector a isoform	88	CIDE-N.				DNA damage response, signal transduction resulting in induction of apoptosis|DNA fragmentation involved in apoptotic nuclear change|lipid metabolic process|lipid storage|negative regulation of apoptosis|negative regulation of cytokine secretion|negative regulation of lipid catabolic process|negative regulation of transforming growth factor beta receptor signaling pathway|negative regulation of tumor necrosis factor production|positive regulation of sequestering of triglyceride|temperature homeostasis	mitochondrial envelope|nucleus	protein homodimerization activity			ovary(1)|central_nervous_system(1)	2						GGACACAGAAGAGTTCTTTCA	0.512		NaN											0	0	0	1	0	19	58				
CEP192	55125	broad.mit.edu	37	18	13059091	13059091	+	Nonsense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr18:13059091C>G	uc010xac.1	+	21	4348	c.4268C>G	c.(4267-4269)TCA>TGA	p.S1423*	CEP192_uc010dlf.1_RNA|CEP192_uc010xad.1_Nonsense_Mutation_p.S948*|CEP192_uc002kru.2_RNA|CEP192_uc002krv.2_5'UTR|CEP192_uc002krs.1_Nonsense_Mutation_p.S1164*	NM_032142	NP_115518	E9PF99	E9PF99_HUMAN	centrosomal protein 192kDa	1423										ovary(4)|pancreas(1)	5						GTGGATCTTTCAACATATCGT	0.358		NaN											0	0	0	1	0	21	58				
MIB1	57534	broad.mit.edu	37	18	19427037	19427037	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr18:19427037G>A	uc002ktq.2	+	16	2344	c.2344G>A	c.(2344-2346)GAT>AAT	p.D782N	MIB1_uc002ktp.2_Missense_Mutation_p.D421N	NM_020774	NP_065825	Q86YT6	MIB1_HUMAN	mindbomb homolog 1	782					Notch signaling pathway	centrosome|nuclear membrane|plasma membrane	ubiquitin-protein ligase activity|zinc ion binding			ovary(4)	4			STAD - Stomach adenocarcinoma(5;0.212)			TCTCTGTCCTGATCCGAATCT	0.393		NaN											0	0	0	1	0	21	55				
LAMA3	3909	broad.mit.edu	37	18	21327958	21327958	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr18:21327958G>A	uc002kuq.2	+	3	585	c.499G>A	c.(499-501)GAT>AAT	p.D167N	LAMA3_uc010dlv.1_Missense_Mutation_p.D167N|LAMA3_uc002kur.2_Missense_Mutation_p.D167N	NM_198129	NP_937762	Q16787	LAMA3_HUMAN	laminin alpha 3 subunit isoform 1	167	Laminin N-terminal.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			ovary(8)|skin(2)|central_nervous_system(1)	11	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TCCTCGCCCTGATCTTTGGGT	0.348		NaN											0	0	0	1	0	21	68				
DSC1	1823	broad.mit.edu	37	18	28720060	28720060	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr18:28720060C>G	uc002kwn.2	-	10	1727	c.1465G>C	c.(1465-1467)GAA>CAA	p.E489Q	DSC1_uc002kwm.2_Missense_Mutation_p.E489Q	NM_024421	NP_077739	Q08554	DSC1_HUMAN	desmocollin 1 isoform Dsc1a preproprotein	489	Extracellular (Potential).|Cadherin 4.				homophilic cell adhesion	desmosome|gap junction|integral to membrane|membrane fraction	calcium ion binding			ovary(3)|skin(1)	4			OV - Ovarian serous cystadenocarcinoma(10;0.00778)			CCAAGGAGTTCTTGGCCAGCT	0.428		NaN											0	0	0	1	0	22	74				
DSG1	1828	broad.mit.edu	37	18	28916386	28916386	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr18:28916386C>A	uc002kwp.2	+	9	1287	c.1075C>A	c.(1075-1077)CAT>AAT	p.H359N		NM_001942	NP_001933	Q02413	DSG1_HUMAN	desmoglein 1 preproprotein	359	Extracellular (Potential).|Cadherin 3.				calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization	cytosol|desmosome|integral to membrane|internal side of plasma membrane	calcium ion binding|gamma-catenin binding|toxin binding			skin(3)|ovary(2)|central_nervous_system(2)	7			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			TGAATTTCATCATTCAATTAT	0.343		NaN											1	0	0.184627	1	0.184846	5	25				
DSG1	1828	broad.mit.edu	37	18	28923426	28923426	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr18:28923426G>C	uc002kwp.2	+	12	1913	c.1701G>C	c.(1699-1701)TTG>TTC	p.L567F	DSG1_uc010xbp.1_5'Flank	NM_001942	NP_001933	Q02413	DSG1_HUMAN	desmoglein 1 preproprotein	567	Helical; (Potential).				calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization	cytosol|desmosome|integral to membrane|internal side of plasma membrane	calcium ion binding|gamma-catenin binding|toxin binding			skin(3)|ovary(2)|central_nervous_system(2)	7			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			TCCCATTTTTGATGATCTGTT	0.423		NaN											0	0	0	1	0	32	122				
DSG1	1828	broad.mit.edu	37	18	28923523	28923523	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr18:28923523G>C	uc002kwp.2	+	12	2010	c.1798G>C	c.(1798-1800)GAA>CAA	p.E600Q	DSG1_uc010xbp.1_5'Flank	NM_001942	NP_001933	Q02413	DSG1_HUMAN	desmoglein 1 preproprotein	600	Cytoplasmic (Potential).				calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization	cytosol|desmosome|integral to membrane|internal side of plasma membrane	calcium ion binding|gamma-catenin binding|toxin binding			skin(3)|ovary(2)|central_nervous_system(2)	7			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			ATGGGCAGTAGAAGGACCACA	0.483		NaN											0	0	0	1	0	23	75				
C18orf34	374864	broad.mit.edu	37	18	30913193	30913193	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr18:30913193G>C	uc002kxn.2	-	9	966	c.824C>G	c.(823-825)TCT>TGT	p.S275C	C18orf34_uc010xbr.1_Missense_Mutation_p.S275C|C18orf34_uc010dmf.1_Intron|C18orf34_uc002kxo.2_Missense_Mutation_p.S275C|C18orf34_uc002kxp.2_Missense_Mutation_p.S275C	NM_001105528	NP_001098998	Q5BJE1	CR034_HUMAN	hypothetical protein LOC374864 isoform 1	275	Potential.									ovary(1)	1						ATTCTGCTTAGAGTCCAGTAG	0.328		NaN											0	0	0	1	0	9	40				
ASXL3	80816	broad.mit.edu	37	18	31319557	31319557	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr18:31319557C>T	uc010dmg.1	+	11	2244	c.2189C>T	c.(2188-2190)TCA>TTA	p.S730L	ASXL3_uc002kxq.2_Missense_Mutation_p.S437L	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3	730	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			ovary(2)|pancreas(1)	3						GAAACTTCTTCAGTGTCTTCC	0.398		NaN											0	0	0	1	0	55	207				
C18orf10	25941	broad.mit.edu	37	18	34376949	34376949	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr18:34376949G>C	uc002kzw.1	-	7	1150	c.722C>G	c.(721-723)TCC>TGC	p.S241C	C18orf10_uc002kzv.1_Intron|C18orf10_uc010xci.1_Missense_Mutation_p.S206C|C18orf10_uc002kzx.1_Missense_Mutation_p.S198C	NM_015476	NP_056291	Q68CL5	TPGS2_HUMAN	tubulin polyglutamylase complex subunit 2	241						cytoplasm|microtubule				skin(1)	1						ATTCACAAAGGAGTCGGTCTC	0.443		NaN											0	0	0	1	0	52	143				
KIAA1328	57536	broad.mit.edu	37	18	34415224	34415224	+	Nonsense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr18:34415224C>G	uc002kzz.2	+	3	144	c.122C>G	c.(121-123)TCA>TGA	p.S41*		NM_020776	NP_065827	Q86T90	K1328_HUMAN	hypothetical protein LOC57536	41										central_nervous_system(1)	1				COAD - Colon adenocarcinoma(74;0.195)		AATGTCAGATCAAGACACAAG	0.393		NaN											0	0	0	1	0	17	56				
SETBP1	26040	broad.mit.edu	37	18	42530198	42530198	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr18:42530198C>T	uc010dni.2	+	4	1189	c.893C>T	c.(892-894)TCA>TTA	p.S298L		NM_015559	NP_056374	Q9Y6X0	SETBP_HUMAN	SET binding protein 1 isoform a	298						nucleus	DNA binding			upper_aerodigestive_tract(2)|large_intestine(1)	3				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		AGCCACAGCTCACCAGCCCCA	0.567		NaN							Schinzel-Giedion_syndrome				0	0	0	1	0	22	88				
SLC14A1	6563	broad.mit.edu	37	18	43319255	43319255	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr18:43319255C>T	uc010xcn.1	+	8	1110	c.791C>T	c.(790-792)TCA>TTA	p.S264L	SLC14A1_uc010dnk.2_Missense_Mutation_p.S320L|SLC14A1_uc002lbf.3_Missense_Mutation_p.S264L|SLC14A1_uc002lbg.3_RNA|SLC14A1_uc010xco.1_Missense_Mutation_p.S159L|SLC14A1_uc002lbh.3_Missense_Mutation_p.S156L|SLC14A1_uc002lbi.3_Missense_Mutation_p.S132L|SLC14A1_uc002lbj.3_Missense_Mutation_p.S320L|SLC14A1_uc002lbk.3_Missense_Mutation_p.S264L	NM_001146036	NP_001139508	Q13336	UT1_HUMAN	solute carrier family 14 (urea transporter),	264						integral to plasma membrane	urea transmembrane transporter activity			central_nervous_system(1)|pancreas(1)	2						GCCATAGGATCATTGCTGGGC	0.537		NaN											0	0	0	1	0	27	81				
TCEB3B	51224	broad.mit.edu	37	18	44561352	44561352	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr18:44561352G>T	uc002lcr.1	-	1	637	c.284C>A	c.(283-285)TCC>TAC	p.S95Y	KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.2_Intron|KATNAL2_uc002lcp.3_Intron	NM_016427	NP_057511	Q8IYF1	ELOA2_HUMAN	elongin A2	95					regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding			ovary(2)|large_intestine(1)|pancreas(1)	4						GCGCTGTCGGGAAGCGCTCTC	0.657		NaN											1	0	1.40151e-16	1	1.48112e-16	22	67				
IER3IP1	51124	broad.mit.edu	37	18	44682582	44682582	+	Nonsense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr18:44682582G>C	uc002lcu.2	-	3	312	c.215C>G	c.(214-216)TCA>TGA	p.S72*		NM_016097	NP_057181	Q9Y5U9	IR3IP_HUMAN	immediate early response 3 interacting protein	72	Helical; (Potential).					endoplasmic reticulum membrane|Golgi apparatus|integral to membrane					0						AATTGCAATTGAGTTTACTAT	0.303		NaN											0	0	0	1	0	7	30				
MYO5B	4645	broad.mit.edu	37	18	47581731	47581731	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr18:47581731G>A	uc002leb.2	-	2	333	c.45C>T	c.(43-45)ATC>ATT	p.I15I	MYO5B_uc002lec.1_Silent_p.I14I	NM_001080467	NP_001073936	Q9ULV0	MYO5B_HUMAN	myosin VB	15	Myosin head-like.				protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			ovary(2)|skin(2)|central_nervous_system(1)	5				READ - Rectum adenocarcinoma(32;0.103)		CAGGGTCAGGGATCCAGACCC	0.453		NaN											0	0	0	1	0	23	84				
CXXC1	30827	broad.mit.edu	37	18	47810410	47810410	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr18:47810410C>T	uc002leq.3	-	10	2000	c.1267G>A	c.(1267-1269)GAA>AAA	p.E423K	MBD1_uc002leg.2_5'Flank|MBD1_uc010dow.1_5'Flank|MBD1_uc010xdi.1_5'Flank|MBD1_uc002leh.3_5'Flank|MBD1_uc002len.2_5'Flank|MBD1_uc002lei.3_5'Flank|MBD1_uc002lej.3_5'Flank|MBD1_uc002lek.3_5'Flank|MBD1_uc002lel.3_5'Flank|MBD1_uc002lem.3_5'Flank|MBD1_uc010xdj.1_5'Flank|MBD1_uc010xdk.1_5'Flank|MBD1_uc002leo.2_5'Flank|CXXC1_uc002lep.3_Missense_Mutation_p.E280K|CXXC1_uc002ler.3_Missense_Mutation_p.E427K|CXXC1_uc010doy.2_Missense_Mutation_p.E423K|CXXC1_uc002les.2_Missense_Mutation_p.E423K	NM_014593	NP_055408	Q9P0U4	CXXC1_HUMAN	CXXC finger 1 (PHD domain) isoform 2	423	Potential.				histone H3-K4 methylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck|Set1C/COMPASS complex	protein binding|unmethylated CpG binding|zinc ion binding			upper_aerodigestive_tract(1)|ovary(1)	2						CCGTGCTCTTCAGCAATGCAA	0.587		NaN											0	0	0	1	0	43	114				
ALPK2	115701	broad.mit.edu	37	18	56205258	56205258	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr18:56205258C>T	uc002lhj.3	-	5	2375	c.2161G>A	c.(2161-2163)GAA>AAA	p.E721K	ALPK2_uc002lhk.1_Missense_Mutation_p.E52K	NM_052947	NP_443179	Q86TB3	ALPK2_HUMAN	heart alpha-kinase	721							ATP binding|protein serine/threonine kinase activity			ovary(7)|skin(5)|lung(1)|central_nervous_system(1)	14						TCTTGTTTTTCTTCATGCTGT	0.448		NaN											0	0	0	1	0	48	138				
SERPINB5	5268	broad.mit.edu	37	18	61170752	61170752	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr18:61170752G>C	uc002liz.3	+	7	1067	c.925G>C	c.(925-927)GAG>CAG	p.E309Q		NM_002639	NP_002630	P36952	SPB5_HUMAN	serine (or cysteine) proteinase inhibitor, clade	309					cellular component movement|regulation of proteolysis	cytoplasm|extracellular space	protein binding|serine-type endopeptidase inhibitor activity			ovary(1)	1						TGGAATGTCAGAGACCAAGGG	0.438		NaN											0	0	0	1	0	29	53				
SERPINB8	5271	broad.mit.edu	37	18	61654502	61654502	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr18:61654502C>T	uc002ljv.2	+	7	1284	c.1115C>T	c.(1114-1116)TCT>TTT	p.S372F	SERPINB8_uc002lju.2_Missense_Mutation_p.S372F|SERPINB8_uc010xex.1_Missense_Mutation_p.S190F	NM_198833	NP_942130	P50452	SPB8_HUMAN	serine (or cysteine) proteinase inhibitor, clade	372					regulation of proteolysis	cytosol	protein binding|serine-type endopeptidase inhibitor activity			skin(1)	1		Esophageal squamous(42;0.129)				GGCAGGTTCTCTTCTCCGTAA	0.473		NaN											0	0	0	1	0	19	54				
TSHZ1	10194	broad.mit.edu	37	18	72999280	72999280	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr18:72999280G>A	uc002lly.2	+	2	2346	c.1783G>A	c.(1783-1785)GAG>AAG	p.E595K		NM_005786	NP_005777	Q6ZSZ6	TSH1_HUMAN	teashirt family zinc finger 1	640						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)		Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246)		GTCTGCCATGGAGGAGCTGGT	0.637		NaN											0	0	0	1	0	17	83				
CDC34	997	broad.mit.edu	37	19	541369	541369	+	Silent	SNP	G	G	A	rs143039634		TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr19:541369G>A	uc002lov.2	+	5	727	c.528G>A	c.(526-528)GCG>GCA	p.A176A	GZMM_uc002low.1_5'Flank	NM_004359	NP_004350	P49427	UB2R1_HUMAN	ubiquitin-conjugating enzyme Cdc34	176					DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|negative regulation of cAMP-mediated signaling|proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked ubiquitination	cytoplasm|nucleus	ATP binding|protein binding|ubiquitin-protein ligase activity				0		all_cancers(10;1.94e-35)|all_epithelial(18;5.94e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		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)		AGGTGGACGCGGAGCGTGACG	0.716		NaN											0	0	0	1	0	5	18				
FSTL3	10272	broad.mit.edu	37	19	677928	677928	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr19:677928G>A	uc002lpk.1	+	2	275	c.240G>A	c.(238-240)AAG>AAA	p.K80K	FSTL3_uc010drt.1_5'Flank	NM_005860	NP_005851	O95633	FSTL3_HUMAN	follistatin-like 3 glycoprotein precursor	80	TB.				hemopoietic progenitor cell differentiation|negative regulation of activin receptor signaling pathway|negative regulation of BMP signaling pathway|negative regulation of osteoclast differentiation|ossification|positive regulation of cell-cell adhesion|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	extracellular space|nucleus	activin binding|fibronectin binding				0		all_epithelial(18;2.19e-21)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		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)		CGGGGAACAAGATCAACCTCC	0.627		NaN	T	CCND1	B-CLL								0	0	0	1	0	29	109				
FSTL3	10272	broad.mit.edu	37	19	677931	677931	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr19:677931C>T	uc002lpk.1	+	2	278	c.243C>T	c.(241-243)ATC>ATT	p.I81I	FSTL3_uc010drt.1_5'Flank	NM_005860	NP_005851	O95633	FSTL3_HUMAN	follistatin-like 3 glycoprotein precursor	81	TB.				hemopoietic progenitor cell differentiation|negative regulation of activin receptor signaling pathway|negative regulation of BMP signaling pathway|negative regulation of osteoclast differentiation|ossification|positive regulation of cell-cell adhesion|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	extracellular space|nucleus	activin binding|fibronectin binding				0		all_epithelial(18;2.19e-21)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		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)		GGAACAAGATCAACCTCCTCG	0.622		NaN	T	CCND1	B-CLL								0	0	0	1	0	29	106				
REXO1	57455	broad.mit.edu	37	19	1828237	1828237	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr19:1828237G>A	uc002lua.3	-	2	646	c.551C>T	c.(550-552)TCC>TTC	p.S184F	REXO1_uc010dsr.1_Missense_Mutation_p.S138F	NM_020695	NP_065746	Q8N1G1	REXO1_HUMAN	transcription elongation factor B polypeptide 3	184						nucleus	exonuclease activity|nucleic acid binding				0		Ovarian(11;1.78e-06)|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)		CCTGTCCAGGGACGCCAGCGA	0.716		NaN											0	0	0	1	0	7	32				
ZNF77	58492	broad.mit.edu	37	19	2939284	2939284	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr19:2939284G>C	uc002lws.3	-	2	256	c.125C>G	c.(124-126)TCC>TGC	p.S42C		NM_021217	NP_067040	Q15935	ZNF77_HUMAN	zinc finger protein 77	42	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|zinc ion binding			ovary(1)	1				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|GBM - Glioblastoma multiforme(1328;2.11e-07)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.174)|STAD - Stomach adenocarcinoma(1328;0.18)		CTTACCCAAGGAGGCAAGGTT	0.567		NaN											0	0	0	1	0	18	61				
FZR1	51343	broad.mit.edu	37	19	3527044	3527044	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr19:3527044C>A	uc010dtk.2	+	5	488	c.454C>A	c.(454-456)CCC>ACC	p.P152T	FZR1_uc002lxt.2_Missense_Mutation_p.P152T|FZR1_uc002lxv.2_Intron	NM_001136198	NP_001129670	Q9UM11	FZR_HUMAN	Fzr1 protein isoform 1	152					activation of anaphase-promoting complex activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|DNA repair|G2/M transition DNA damage checkpoint|mitosis|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of protein catabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle	cytosol|nucleoplasm	protein binding			lung(1)|kidney(1)	2				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)		CTCCCTGTCTCCCGTCAGCAA	0.642		NaN											1	0	6.05902e-23	1	6.45152e-23	32	112				
C19orf28	126321	broad.mit.edu	37	19	3550998	3550998	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr19:3550998C>G	uc002lxz.2	-	2	663	c.493G>C	c.(493-495)GAG>CAG	p.E165Q	C19orf28_uc002lxw.2_Missense_Mutation_p.E165Q|C19orf28_uc002lxx.2_Missense_Mutation_p.E165Q|C19orf28_uc002lxy.2_Missense_Mutation_p.E156Q	NM_174983	NP_778148	Q6NUT3	CS028_HUMAN	hypothetical protein LOC126321 isoform c	165					transmembrane transport	integral to membrane				breast(1)|pancreas(1)	2		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00251)|STAD - Stomach adenocarcinoma(1328;0.18)		GCCGTGAGCTCCACCTTCTCA	0.592		NaN											0	0	0	1	0	17	28				
GIPC3	126326	broad.mit.edu	37	19	3590172	3590172	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr19:3590172G>C	uc002lyd.3	+	6	950	c.923G>C	c.(922-924)AGA>ACA	p.R308T		NM_133261	NP_573568	Q8TF64	GIPC3_HUMAN	GIPC PDZ domain containing family, member 3	308										breast(1)	1				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0025)|STAD - Stomach adenocarcinoma(1328;0.18)		GGCGAGGCCAGAGAGGCCTGT	0.433		NaN											0	0	0	1	0	4	10				
MATK	4145	broad.mit.edu	37	19	3779175	3779175	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr19:3779175C>G	uc002lyt.2	-	12	1412	c.1012G>C	c.(1012-1014)GAG>CAG	p.E338Q	MATK_uc002lyv.2_Missense_Mutation_p.E339Q|MATK_uc002lyu.2_Missense_Mutation_p.E297Q|MATK_uc010dtq.2_Missense_Mutation_p.E338Q	NM_139355	NP_647612	P42679	MATK_HUMAN	megakaryocyte-associated tyrosine kinase isoform	338	Protein kinase.				cell proliferation|mesoderm development|positive regulation of cell proliferation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity			stomach(2)|ovary(1)|lung(1)|large_intestine(1)	5		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		TCCATGCCCTCGGCCACGTGC	0.652		NaN											0	0	0	1	0	4	20				
PTPRS	5802	broad.mit.edu	37	19	5231463	5231463	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr19:5231463C>T	uc002mbv.2	-	14	2247	c.2013G>A	c.(2011-2013)GTG>GTA	p.V671V	PTPRS_uc002mbu.1_Intron|PTPRS_uc010xin.1_Intron|PTPRS_uc002mbw.2_Silent_p.V658V|PTPRS_uc002mbx.2_Intron|PTPRS_uc002mby.2_Intron	NM_002850	NP_002841	Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type,	671	Extracellular (Potential).|Fibronectin type-III 4.				cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			large_intestine(2)|ovary(1)|central_nervous_system(1)	4				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)		GGATGCCGTTCACCTCCTTGG	0.672		NaN											0	0	0	1	0	20	46				
LONP1	9361	broad.mit.edu	37	19	5711936	5711936	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr19:5711936G>A	uc002mcx.2	-	4	749	c.716C>T	c.(715-717)TCA>TTA	p.S239L	LONP1_uc002mcy.2_Missense_Mutation_p.S175L|LONP1_uc010duh.2_5'UTR|LONP1_uc010dui.2_Missense_Mutation_p.S239L|LONP1_uc002mcz.2_Missense_Mutation_p.S43L	NM_004793	NP_004784	P36776	LONM_HUMAN	mitochondrial lon peptidase 1 precursor	239	Lon.				cellular chaperone-mediated protein complex assembly|cellular response to oxidative stress|misfolded or incompletely synthesized protein catabolic process|mitochondrial DNA metabolic process|oxidation-dependent protein catabolic process|protein homooligomerization|response to hypoxia	mitochondrial nucleoid	ADP binding|ATP binding|ATP-dependent peptidase activity|DNA polymerase binding|G-quadruplex DNA binding|mitochondrial heavy strand promoter anti-sense binding|mitochondrial light strand promoter anti-sense binding|sequence-specific DNA binding|serine-type endopeptidase activity|single-stranded DNA binding|single-stranded RNA binding				0						GCCCCGCTTTGACTTCCTGCG	0.667		NaN											0	0	0	1	0	27	65				
SLC25A41	284427	broad.mit.edu	37	19	6426469	6426469	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr19:6426469C>T	uc010dus.2	-	7	1130	c.1044G>A	c.(1042-1044)CTG>CTA	p.L348L	KHSRP_uc002mer.3_5'Flank|SLC25A41_uc010dut.2_Silent_p.L210L	NM_173637	NP_775908	Q8N5S1	S2541_HUMAN	solute carrier family 25, member 41	348	Helical; Name=6; (Potential).|Solcar 3.				transmembrane transport	integral to membrane|mitochondrial inner membrane	binding				0						GTAAGACCTTCAGTAGCGTGG	0.602		NaN											0	0	0	1	0	25	78				
DENND1C	79958	broad.mit.edu	37	19	6467705	6467705	+	Nonsense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr19:6467705G>C	uc002mfe.2	-	23	2308	c.2216C>G	c.(2215-2217)TCA>TGA	p.S739*	DENND1C_uc002mfb.2_Nonsense_Mutation_p.S289*|DENND1C_uc002mfc.2_Nonsense_Mutation_p.S289*|DENND1C_uc002mfd.2_Nonsense_Mutation_p.S289*|DENND1C_uc010xje.1_Nonsense_Mutation_p.S695*	NM_024898	NP_079174	Q8IV53	DEN1C_HUMAN	DENN/MADD domain containing 1C	739						clathrin-coated vesicle|cytosol	guanyl-nucleotide exchange factor activity			large_intestine(1)	1						ACTGGGGTCTGAGGAAGGATC	0.632		NaN											0	0	0	1	0	8	29				
C3	718	broad.mit.edu	37	19	6692953	6692953	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr19:6692953C>T	uc002mfm.2	-	26	3434	c.3372G>A	c.(3370-3372)GTG>GTA	p.V1124V	C3_uc002mfl.2_5'UTR	NM_000064	NP_000055	P01024	CO3_HUMAN	complement component 3 precursor	1124					complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			skin(3)|ovary(1)|pancreas(1)	5				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		CTTGGTGTATCACGGGCGCAT	0.562		NaN											0	0	0	1	0	48	185				
NDUFA7	4701	broad.mit.edu	37	19	8381530	8381530	+	Splice_Site	SNP	C	C	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr19:8381530C>A	uc002mjm.1	-	3	140	c.102_splice	c.e3-1	p.R34_splice		NM_005001	NP_004992	O95182	NDUA7_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha						mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity				0					NADH(DB00157)	AGGCTGAGTTCTGAGGGGAAA	0.562		NaN											1	0	7.33532e-06	1	7.51282e-06	24	92				
RPS28	6234	broad.mit.edu	37	19	8386542	8386542	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr19:8386542C>T	uc002mjn.2	+	2	73	c.42C>T	c.(40-42)GTC>GTT	p.V14V	NDUFA7_uc002mjm.1_5'Flank	NM_001031	NP_001022	P62857	RS28_HUMAN	ribosomal protein S28	14					endocrine pancreas development|ribosomal small subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit	protein binding|structural constituent of ribosome				0						TCCTCCAGGTCACCAAGGTCC	0.637		NaN											0	0	0	1	0	6	18				
MUC16	94025	broad.mit.edu	37	19	9059942	9059942	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr19:9059942G>A	uc002mkp.2	-	3	27708	c.27504C>T	c.(27502-27504)CAC>CAT	p.H9168H		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	9170	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						GCGAAGAAGAGTGGATGCTGT	0.517		NaN											0	0	0	1	0	10	54				
MUC16	94025	broad.mit.edu	37	19	9071650	9071650	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr19:9071650C>T	uc002mkp.2	-	3	16000	c.15796G>A	c.(15796-15798)GAA>AAA	p.E5266K		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	5268	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						ATCGTCATTTCTGCAGATTTT	0.512		NaN											0	0	0	1	0	11	93				
MUC16	94025	broad.mit.edu	37	19	9083542	9083542	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr19:9083542G>A	uc002mkp.2	-	1	8477	c.8273C>T	c.(8272-8274)TCC>TTC	p.S2758F		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	2758	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						GAATACAAGGGAACCAGTAGT	0.488		NaN											0	0	0	1	0	19	57				
OR1M1	125963	broad.mit.edu	37	19	9204520	9204520	+	Silent	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr19:9204520C>G	uc010xkj.1	+	1	600	c.600C>G	c.(598-600)CTC>CTG	p.L200L		NM_001004456	NP_001004456	Q8NGA1	OR1M1_HUMAN	olfactory receptor, family 1, subfamily M,	200	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(3)	3						TCTTCATCCTCATTGTGGCAG	0.567		NaN											0	0	0	1	0	31	138				
OR7D2	162998	broad.mit.edu	37	19	9297281	9297281	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr19:9297281C>T	uc002mkz.1	+	1	1012	c.824C>T	c.(823-825)TCG>TTG	p.S275L		NM_175883	NP_787079	Q96RA2	OR7D2_HUMAN	olfactory receptor, family 7, subfamily D,	275	Helical; Name=7; (Potential).				regulation of transcription, DNA-dependent|sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|upper_aerodigestive_tract(1)	3						TCCGTGGCCTCGGTGATGTAC	0.547		NaN											0	0	0	1	0	32	99				
OR7E24	26648	broad.mit.edu	37	19	9362193	9362193	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr19:9362193C>T	uc002mlb.1	+	1	474	c.474C>T	c.(472-474)CTC>CTT	p.L158L		NM_001079935	NP_001073404	Q6IFN5	O7E24_HUMAN	olfactory receptor, family 7, subfamily E,	158	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1						ACCCACGCCTCTGTGGCTTCT	0.458		NaN											0	0	0	1	0	10	44				
ZNF560	147741	broad.mit.edu	37	19	9578284	9578284	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr19:9578284G>C	uc002mlp.1	-	10	1549	c.1339C>G	c.(1339-1341)CTT>GTT	p.L447V	ZNF560_uc010dwr.1_Missense_Mutation_p.L341V	NM_152476	NP_689689	Q96MR9	ZN560_HUMAN	zinc finger protein 560	447	C2H2-type 5.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(2)|ovary(1)|large_intestine(1)|pancreas(1)|liver(1)	6						TGTCCAAAAAGAGATGGGTAA	0.403		NaN											0	0	0	1	0	32	101				
ZNF426	79088	broad.mit.edu	37	19	9639182	9639182	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr19:9639182G>A	uc002mlq.2	-	8	1803	c.1539C>T	c.(1537-1539)TTC>TTT	p.F513F	ZNF426_uc010dws.2_Silent_p.F475F	NM_024106	NP_077011	Q9BUY5	ZN426_HUMAN	zinc finger protein 426	513	C2H2-type 11.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						TGGAACACGTGAAGGCTTTCC	0.428		NaN											0	0	0	1	0	22	81				
ZNF561	93134	broad.mit.edu	37	19	9727726	9727726	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr19:9727726G>A	uc002mlu.2	-	4	441	c.236C>T	c.(235-237)TCT>TTT	p.S79F	ZNF561_uc010dwu.2_Missense_Mutation_p.S10F|ZNF561_uc010xkr.1_5'UTR	NM_152289	NP_689502	Q8N587	ZN561_HUMAN	zinc finger protein 561	79	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						CTTACCCACAGAGGCCAGGTT	0.313		NaN											0	0	0	1	0	14	62				
FBXL12	54850	broad.mit.edu	37	19	9921757	9921757	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr19:9921757G>A	uc002mme.2	-	3	1038	c.796C>T	c.(796-798)CCA>TCA	p.P266S	FBXL12_uc002mmd.2_Missense_Mutation_p.P213S|FBXL12_uc002mmf.2_Missense_Mutation_p.P213S|FBXL12_uc002mmg.2_Missense_Mutation_p.P213S|FBXL12_uc002mmh.2_Missense_Mutation_p.P213S	NM_017703	NP_060173	Q9NXK8	FXL12_HUMAN	F-box and leucine-rich repeat protein 12	266	LRR 8.						protein binding			lung(1)|kidney(1)	2						GGCATTTCTGGGGTGACGAGG	0.662		NaN											0	0	0	1	0	5	24				
DNMT1	1786	broad.mit.edu	37	19	10246920	10246920	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr19:10246920G>A	uc002mng.2	-	37	4665	c.4485C>T	c.(4483-4485)CTC>CTT	p.L1495L	DNMT1_uc002mne.2_RNA|DNMT1_uc002mnf.2_Silent_p.L419L|DNMT1_uc010xlc.1_Silent_p.L1511L|DNMT1_uc002mnh.2_Silent_p.L1390L|DNMT1_uc010xld.1_Silent_p.L1498L	NM_001379	NP_001370	P26358	DNMT1_HUMAN	DNA (cytosine-5-)-methyltransferase 1 isoform b	1495	Catalytic.|Interaction with the PRC2/EED-EZH2 complex (By similarity).				chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding			ovary(2)|prostate(1)|lung(1)|breast(1)|skin(1)	6			OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035)	ACCAGGGGATGAGGGTGTTGA	0.627		NaN											0	0	0	1	0	9	34				
PRKCSH	5589	broad.mit.edu	37	19	11558333	11558333	+	Missense_Mutation	SNP	C	C	T	rs142627856		TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr19:11558333C>T	uc002mrt.2	+	11	1265	c.929C>T	c.(928-930)TCG>TTG	p.S310L	PRKCSH_uc002mru.2_Missense_Mutation_p.S310L|PRKCSH_uc010xlz.1_Missense_Mutation_p.S310L|PRKCSH_uc010dya.2_Intron|PRKCSH_uc002mrv.1_Missense_Mutation_p.S310L|PRKCSH_uc010dyb.2_Missense_Mutation_p.S310L	NM_002743	NP_002734	P14314	GLU2B_HUMAN	protein kinase C substrate 80K-H isoform 1	310					innate immune response|intracellular protein kinase cascade|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen	calcium ion binding|protein kinase C binding				0						GTGCCCTCGTCGCCCACAgag	0.463		NaN											0	0	0	1	0	6	35				
ACP5	54	broad.mit.edu	37	19	11687567	11687567	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr19:11687567G>A	uc002msg.3	-	3	499	c.353C>T	c.(352-354)TCT>TTT	p.S118F	ACP5_uc002msh.3_Missense_Mutation_p.S118F|ACP5_uc002msi.3_Missense_Mutation_p.S118F|ACP5_uc002msj.3_Missense_Mutation_p.S118F|ACP5_uc010dye.1_3'UTR	NM_001611	NP_001602	P13686	PPA5_HUMAN	acid phosphatase 5, tartrate resistant	118					water-soluble vitamin metabolic process	cytosol|integral to membrane|lysosome	acid phosphatase activity|ferric iron binding|ferrous iron binding			central_nervous_system(1)	1						AATCTGGGCAGAGACATTGCC	0.572		NaN											0	0	0	1	0	42	131				
ZNF491	126069	broad.mit.edu	37	19	11917627	11917627	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr19:11917627C>T	uc002mso.1	+	3	1144	c.859C>T	c.(859-861)CAA>TAA	p.Q287*		NM_152356	NP_689569	Q8N8L2	ZN491_HUMAN	zinc finger protein 491	287	C2H2-type 8.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2						CAGTTCATTTCAAAGGCATGA	0.423		NaN											0	0	0	1	0	8	44				
ZNF700	90592	broad.mit.edu	37	19	12059829	12059829	+	Silent	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr19:12059829G>C	uc002msu.2	+	4	1116	c.990G>C	c.(988-990)GGG>GGC	p.G330G	ZNF700_uc010xme.1_Silent_p.G348G|ZNF763_uc010xmf.1_Intron	NM_144566	NP_653167	Q9H0M5	ZN700_HUMAN	zinc finger protein 700	330					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						CCCACTCTGGGAAAAAACCGT	0.373		NaN											0	0	0	1	0	20	57				
FBXW9	84261	broad.mit.edu	37	19	12800989	12800989	+	Silent	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr19:12800989G>C	uc010dyx.2	-	6	879	c.879C>G	c.(877-879)CTC>CTG	p.L293L	FBXW9_uc010xmp.1_Intron|uc002mul.1_3'UTR|FBXW9_uc002mum.1_Intron|FBXW9_uc002mun.1_Intron	NM_032301	NP_115677	Q5XUX1	FBXW9_HUMAN	F-box and WD-40 domain protein 9	303							protein binding			ovary(1)	1						CCCAGCCCATGAGAGCATCCC	0.612		NaN											0	0	0	1	0	15	19				
FBXW9	84261	broad.mit.edu	37	19	12807065	12807065	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr19:12807065G>C	uc010dyx.2	-	1	331	c.331C>G	c.(331-333)CGC>GGC	p.R111G	FBXW9_uc010xmp.1_RNA|FBXW9_uc002mum.1_Missense_Mutation_p.R111G|FBXW9_uc002mun.1_5'UTR	NM_032301	NP_115677	Q5XUX1	FBXW9_HUMAN	F-box and WD-40 domain protein 9	111	F-box.						protein binding			ovary(1)	1						ACGAGGTCGCGGAGCGCGTGG	0.622		NaN											0	0	0	1	0	5	10				
HOOK2	29911	broad.mit.edu	37	19	12885536	12885536	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr19:12885536C>T	uc002muy.2	-	3	322	c.151G>A	c.(151-153)GAG>AAG	p.E51K	HOOK2_uc002muz.2_Missense_Mutation_p.E51K|HOOK2_uc002mva.2_Missense_Mutation_p.E51K	NM_013312	NP_037444	Q96ED9	HOOK2_HUMAN	hook homolog 2 isoform 1	51	Sufficient for interaction with microtubules.|Required for localization to the centrosome and induction of aggresome formation.				early endosome to late endosome transport|endocytosis|endosome organization|endosome to lysosome transport|lysosome organization|microtubule cytoskeleton organization|protein transport	centrosome|FHF complex|microtubule	identical protein binding|microtubule binding			ovary(1)|breast(1)|skin(1)	3						AGCCATGCCTCGTTGAACCAG	0.567		NaN											0	0	0	1	0	14	39				
PRDX2	7001	broad.mit.edu	37	19	12911749	12911749	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr19:12911749G>A	uc002mvd.2	-	3	388	c.238C>T	c.(238-240)CAG>TAG	p.Q80*	PRDX2_uc002mve.1_Nonsense_Mutation_p.Q80*	NM_005809	NP_005800	P32119	PRDX2_HUMAN	peroxiredoxin 2 isoform a	80	Thioredoxin.				anti-apoptosis|cell redox homeostasis|hydrogen peroxide catabolic process|removal of superoxide radicals		thioredoxin peroxidase activity				0						TGGGTGAACTGAGAGTCCACC	0.348		NaN											0	0	0	1	0	5	24				
PRDX2	7001	broad.mit.edu	37	19	12911751	12911751	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr19:12911751G>A	uc002mvd.2	-	3	386	c.236C>T	c.(235-237)TCT>TTT	p.S79F	PRDX2_uc002mve.1_Missense_Mutation_p.S79F	NM_005809	NP_005800	P32119	PRDX2_HUMAN	peroxiredoxin 2 isoform a	79	Thioredoxin.				anti-apoptosis|cell redox homeostasis|hydrogen peroxide catabolic process|removal of superoxide radicals		thioredoxin peroxidase activity				0						GGTGAACTGAGAGTCCACCGA	0.353		NaN											0	0	0	1	0	6	25				
PRDX2	7001	broad.mit.edu	37	19	12911760	12911760	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr19:12911760G>A	uc002mvd.2	-	3	377	c.227C>T	c.(226-228)TCG>TTG	p.S76L	PRDX2_uc002mve.1_Missense_Mutation_p.S76L	NM_005809	NP_005800	P32119	PRDX2_HUMAN	peroxiredoxin 2 isoform a	76	Thioredoxin.				anti-apoptosis|cell redox homeostasis|hydrogen peroxide catabolic process|removal of superoxide radicals		thioredoxin peroxidase activity				0						AGAGTCCACCGAGACGCCCAG	0.378		NaN											0	0	0	1	0	7	31				
STX10	8677	broad.mit.edu	37	19	13260331	13260331	+	Silent	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr19:13260331C>G	uc010xnb.1	-	3	282	c.282G>C	c.(280-282)CGG>CGC	p.R94R	STX10_uc002mwn.2_5'UTR|STX10_uc002mwo.2_5'UTR|STX10_uc010xna.1_Intron|STX10_uc010xnc.1_Intron|IER2_uc002mwr.2_5'Flank	NM_003765	NP_003756	O60499	STX10_HUMAN	syntaxin 10	94	Cytoplasmic (Potential).				Golgi vesicle transport|intracellular protein transport|retrograde transport, endosome to Golgi	Golgi membrane|integral to membrane	SNAP receptor activity				0			OV - Ovarian serous cystadenocarcinoma(19;3.41e-21)			CCTCTCGCATCCGCTCCACGA	0.502		NaN											0	0	0	1	0	32	91				
CACNA1A	773	broad.mit.edu	37	19	13476255	13476255	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr19:13476255C>T	uc010dze.2	-	5	896	c.660G>A	c.(658-660)ATG>ATA	p.M220I	CACNA1A_uc002mwy.3_Missense_Mutation_p.M220I	NM_001127221	NP_001120693	O00555	CAC1A_HUMAN	calcium channel, alpha 1A subunit isoform 3	220	Cytoplasmic (Potential).|I.				cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			large_intestine(2)	2			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	TCATCGCCTTCATGATCGACT	0.478		NaN											0	0	0	1	0	16	50				
CCDC130	81576	broad.mit.edu	37	19	13869691	13869691	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr19:13869691G>T	uc002mxb.1	+	8	770	c.267G>T	c.(265-267)ATG>ATT	p.M89I	CCDC130_uc010xnf.1_Missense_Mutation_p.M89I|CCDC130_uc002mxc.1_Missense_Mutation_p.M89I|CCDC130_uc002mxd.1_5'UTR|CCDC130_uc010dzf.1_Intron	NM_030818	NP_110445	P13994	CC130_HUMAN	coiled-coil domain containing 130	89					response to virus		protein binding				0			OV - Ovarian serous cystadenocarcinoma(19;6.02e-23)|Epithelial(5;2.58e-18)			GGTTCCGGATGAAATGCCACC	0.632		NaN											1	0	1.26484e-09	1	1.3194e-09	6	25				
CYP4F22	126410	broad.mit.edu	37	19	15662126	15662126	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr19:15662126C>T	uc002nbh.3	+	14	1607	c.1440C>T	c.(1438-1440)TTC>TTT	p.F480F		NM_173483	NP_775754	Q6NT55	CP4FN_HUMAN	cytochrome P450, family 4, subfamily F,	480						endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen			ovary(1)|pancreas(1)	2						GACAGAGCTTCGCCATGGCCG	0.617		NaN											0	0	0	1	0	8	21				
CYP4F2	8529	broad.mit.edu	37	19	16000358	16000358	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr19:16000358C>T	uc002nbs.1	-	7	843	c.793G>A	c.(793-795)GAC>AAC	p.D265N	CYP4F2_uc010xot.1_Missense_Mutation_p.D116N|CYP4F2_uc010xou.1_Missense_Mutation_p.D116N	NM_001082	NP_001073	P78329	CP4F2_HUMAN	cytochrome P450, family 4, subfamily F,	265					leukotriene metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding|protein binding			ovary(1)|skin(1)	2						TCTGTGAAGTCGTGCACCAGG	0.547		NaN											0	0	0	1	0	68	156				
MAST3	23031	broad.mit.edu	37	19	18239752	18239752	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr19:18239752G>C	uc002nhz.3	+	12	1127	c.1127G>C	c.(1126-1128)GGA>GCA	p.G376A		NM_015016	NP_055831	O60307	MAST3_HUMAN	microtubule associated serine/threonine kinase	376	ATP (By similarity).|Protein kinase.						ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			large_intestine(2)|ovary(2)|stomach(1)	5						ATTAGCAACGGAGCCTATGGG	0.597		NaN											0	0	0	1	0	18	79				
CRTC1	23373	broad.mit.edu	37	19	18876304	18876304	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr19:18876304C>T	uc002nkb.3	+	9	1065	c.977C>T	c.(976-978)TCG>TTG	p.S326L	CRTC1_uc010ebv.2_Missense_Mutation_p.S342L|CRTC1_uc010ebw.2_Missense_Mutation_p.S191L|CRTC1_uc002nkc.3_Missense_Mutation_p.S191L	NM_015321	NP_056136	Q6UUV9	CRTC1_HUMAN	mucoepidermoid carcinoma translocated 1 isoform	326	Ser-rich.				interspecies interaction between organisms|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	cAMP response element binding protein binding|protein binding		CRTC1/MAML2(516)	salivary_gland(474)|lung(35)|thyroid(4)|breast(3)|skin(2)|ovary(1)	519						CAGCAGGCATCGCCCACCCTG	0.662		NaN											0	0	0	1	0	37	115				
COMP	1311	broad.mit.edu	37	19	18896558	18896558	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr19:18896558G>A	uc002nke.2	-	14	1629	c.1593C>T	c.(1591-1593)TTC>TTT	p.F531F	COMP_uc002nkd.2_Silent_p.F498F|COMP_uc010xqj.1_Silent_p.F478F	NM_000095	NP_000086	P49747	COMP_HUMAN	cartilage oligomeric matrix protein precursor	531	Mediates cell survival and induction of the IAP family of survival proteins.				anti-apoptosis|apoptosis|cell adhesion|limb development	extracellular space|proteinaceous extracellular matrix	calcium ion binding|collagen binding|extracellular matrix structural constituent|heparan sulfate proteoglycan binding|heparin binding				0						GGAAGGCCCTGAAGTCGGTGA	0.632		NaN											0	0	0	1	0	28	65				
UPF1	5976	broad.mit.edu	37	19	18965463	18965463	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr19:18965463G>A	uc002nkg.2	+	9	1518	c.1243G>A	c.(1243-1245)GAG>AAG	p.E415K	UPF1_uc002nkf.2_Missense_Mutation_p.E404K	NM_002911	NP_002902	Q92900	RENT1_HUMAN	regulator of nonsense transcripts 1	415	Sufficient for interaction with RENT2.				cell cycle|DNA repair|DNA replication|histone mRNA catabolic process|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational termination	chromatin|cytoplasmic mRNA processing body|exon-exon junction complex	ATP binding|ATP-dependent RNA helicase activity|chromatin binding|DNA binding|protein binding|protein binding|RNA binding|zinc ion binding			ovary(1)|central_nervous_system(1)	2						TGCACCTGTGGAGGTGACTCA	0.547		NaN											0	0	0	1	0	69	202				
ZNF253	56242	broad.mit.edu	37	19	20003061	20003061	+	Silent	SNP	A	A	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr19:20003061A>T	uc002noj.2	+	4	1097	c.1005A>T	c.(1003-1005)ACA>ACT	p.T335T	ZNF253_uc002nok.2_Silent_p.T259T|ZNF253_uc002nol.2_RNA	NM_021047	NP_066385	O75346	ZN253_HUMAN	zinc finger protein 253	335				Missing (in Ref. 1; AAC26844).	negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						GAATTCATACAGGAGAGAAAC	0.383		NaN											0	0	0	1	0	5	48				
ZNF429	353088	broad.mit.edu	37	19	21720870	21720870	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr19:21720870G>A	uc002nqd.1	+	4	2152	c.2015G>A	c.(2014-2016)CGT>CAT	p.R672H	ZNF429_uc010ecu.1_Intron	NM_001001415	NP_001001415	Q86V71	ZN429_HUMAN	zinc finger protein 429	672					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2						gatcgagaccgtcctggctaa	0.025		NaN											0	0	0	1	0	4	50				
GRAMD1A	57655	broad.mit.edu	37	19	35517044	35517044	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr19:35517044G>A	uc010xse.1	+	20	2311	c.2174G>A	c.(2173-2175)TGA>TAA	p.*725*	GRAMD1A_uc002nxk.2_Silent_p.*714*|GRAMD1A_uc002nxl.2_Silent_p.*487*|GRAMD1A_uc010xsf.1_Silent_p.*726*|GRAMD1A_uc002nxm.1_RNA|GRAMD1A_uc002nxn.1_Silent_p.*336*	NM_020895	NP_065946	Q96CP6	GRM1A_HUMAN	GRAM domain containing 1A isoform 1	725						integral to membrane					0	all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			AGCTTTTCCTGAGGACCCCGG	0.637		NaN											0	0	0	1	0	19	62				
LGI4	163175	broad.mit.edu	37	19	35616111	35616111	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr19:35616111C>G	uc002nxx.2	-	9	2194	c.1600G>C	c.(1600-1602)GAC>CAC	p.D534H	LGI4_uc002nxy.1_Missense_Mutation_p.D362H|LGI4_uc002nxz.1_3'UTR	NM_139284	NP_644813	Q8N135	LGI4_HUMAN	leucine-rich repeat LGI family, member 4	534						extracellular region				pancreas(1)	1	all_lung(56;7.56e-09)|Lung NSC(56;1.1e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.54e-20)|OV - Ovarian serous cystadenocarcinoma(14;1.33e-18)|all cancers(14;4.27e-17)|LUSC - Lung squamous cell carcinoma(66;0.0849)			GCACTGAGGTCGATCTCGTGA	0.647		NaN											0	0	0	1	0	18	58				
RBM42	79171	broad.mit.edu	37	19	36120478	36120478	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr19:36120478C>T	uc002oan.2	+	2	261	c.185C>T	c.(184-186)GCG>GTG	p.A62V	RBM42_uc010xsx.1_Missense_Mutation_p.A62V|RBM42_uc010eef.2_Missense_Mutation_p.A62V|RBM42_uc002oao.2_Missense_Mutation_p.A62V|RBM42_uc002oap.2_Missense_Mutation_p.A62V|RBM42_uc002oaq.2_Missense_Mutation_p.A62V|RBM42_uc010eeg.2_Missense_Mutation_p.A62V	NM_024321	NP_077297	Q9BTD8	RBM42_HUMAN	RNA binding motif protein 42	62						cytoplasm|nucleus	nucleotide binding|RNA binding				0	all_lung(56;1.58e-07)|Lung NSC(56;2.43e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			GCTGTGCCTGCGGTGCCCACT	0.587		NaN											0	0	0	1	0	39	125				
MLL4	9757	broad.mit.edu	37	19	36221766	36221766	+	Nonsense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr19:36221766C>G	uc010eei.2	+	27	5435	c.5435C>G	c.(5434-5436)TCA>TGA	p.S1812*		NM_014727	NP_055542	Q9UMN6	MLL4_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 4	1812					chromatin-mediated maintenance of transcription		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(6)|breast(2)|ovary(1)|kidney(1)|skin(1)	11	all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GCCCCTTCCTCAGGTGTGGCT	0.572		NaN											0	0	0	1	0	9	12		Valid		
ZNF529	57711	broad.mit.edu	37	19	37038408	37038408	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr19:37038408G>A	uc002oeh.3	-	5	1254	c.1052C>T	c.(1051-1053)TCA>TTA	p.S351L	ZNF529_uc010xth.1_Missense_Mutation_p.S351L|ZNF529_uc010xti.1_Missense_Mutation_p.S333L|ZNF529_uc002oeg.3_Missense_Mutation_p.S246L	NM_020951	NP_066002	Q6P280	ZN529_HUMAN	zinc finger protein 529 isoform a	318	C2H2-type 5.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)	1	Esophageal squamous(110;0.198)					AATGAGCTGTGAACTAATTCT	0.398		NaN											0	0	0	1	0	19	46				
ZNF461	92283	broad.mit.edu	37	19	37130859	37130859	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr19:37130859C>G	uc002oem.2	-	6	616	c.388G>C	c.(388-390)GAA>CAA	p.E130Q	ZNF461_uc002oen.2_Missense_Mutation_p.E99Q|ZNF461_uc010xtj.1_Missense_Mutation_p.E107Q	NM_153257	NP_694989	Q8TAF7	ZN461_HUMAN	gonadotropin inducible transcription repressor	130					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			CTTTTAAATTCTTCCATGTTA	0.403		NaN											0	0	0	1	0	48	108				
ZNF567	163081	broad.mit.edu	37	19	37210440	37210440	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr19:37210440C>A	uc010xtl.1	+	6	1036	c.814C>A	c.(814-816)CAG>AAG	p.Q272K	ZNF567_uc002oeo.1_Missense_Mutation_p.Q272K|ZNF567_uc010xtk.1_Missense_Mutation_p.Q272K|ZNF567_uc002oep.3_Missense_Mutation_p.Q241K|ZNF567_uc002oeq.1_Missense_Mutation_p.Q241K	NM_152603	NP_689816	Q8N184	ZN567_HUMAN	zinc finger protein 567	272	C2H2-type 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			GATTCTGCATCAGGGAATTCA	0.333		NaN											1	0	4.096e-09	1	4.26478e-09	6	22				
ZNF568	374900	broad.mit.edu	37	19	37441842	37441842	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr19:37441842C>G	uc002ofc.2	+	7	2302	c.1787C>G	c.(1786-1788)TCT>TGT	p.S596C	ZNF568_uc010efg.2_Intron|ZNF568_uc010xtn.1_Intron|ZNF568_uc002ofd.2_Missense_Mutation_p.S520C|ZNF568_uc010efe.2_Missense_Mutation_p.S520C|ZNF568_uc010eff.1_Intron	NM_198539	NP_940941	Q3ZCX4	ZN568_HUMAN	zinc finger protein 568	596	C2H2-type 14.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)|ovary(1)	2	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			AAAGCCTTTTCTCAGTGCTCA	0.403		NaN											0	0	0	1	0	19	72				
ZNF607	84775	broad.mit.edu	37	19	38200664	38200664	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr19:38200664G>A	uc002ohc.1	-	3	665	c.69C>T	c.(67-69)CTC>CTT	p.L23L	ZNF607_uc002ohb.1_Silent_p.L23L	NM_032689	NP_116078	Q96SK3	ZN607_HUMAN	zinc finger protein 607	23	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)			GAACCAGGCTGAGATATTCCC	0.418		NaN											0	0	0	1	0	18	59				
SIPA1L3	23094	broad.mit.edu	37	19	38610244	38610244	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr19:38610244G>C	uc002ohk.2	+	9	3099	c.2590G>C	c.(2590-2592)GAG>CAG	p.E864Q		NM_015073	NP_055888	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like	864					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			ovary(1)|central_nervous_system(1)	2			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			GGCTGGCGCTGAGCAGCACAG	0.557		NaN											0	0	0	1	0	33	76				
YIF1B	90522	broad.mit.edu	37	19	38799901	38799901	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr19:38799901C>A	uc002ohz.2	-	3	414	c.365G>T	c.(364-366)AGA>ATA	p.R122I	YIF1B_uc002ohw.2_Missense_Mutation_p.R91I|YIF1B_uc002ohx.2_Missense_Mutation_p.R107I|YIF1B_uc010xtx.1_Missense_Mutation_p.R105I|YIF1B_uc010xty.1_Missense_Mutation_p.R91I|YIF1B_uc002oia.2_Missense_Mutation_p.R119I|YIF1B_uc002ohy.2_Missense_Mutation_p.R119I|YIF1B_uc002oib.2_Missense_Mutation_p.R119I	NM_001039672	NP_001034761	Q5BJH7	YIF1B_HUMAN	Yip1 interacting factor homolog B isoform 5	122	Cytoplasmic (Potential).					integral to membrane					0	all_cancers(60;1.07e-06)		Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			GCCCAGCTTTCTGCCCACATA	0.597		NaN											1	0	4.03997e-35	1	4.31797e-35	73	246				
NFKBIB	4793	broad.mit.edu	37	19	39398291	39398291	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr19:39398291G>C	uc002ojw.2	+	5	1019	c.961G>C	c.(961-963)GAC>CAC	p.D321H	NFKBIB_uc002ojx.2_Missense_Mutation_p.D289H|NFKBIB_uc002ojy.2_Missense_Mutation_p.D321H	NM_002503	NP_002494	Q15653	IKBB_HUMAN	nuclear factor of kappa light polypeptide gene	321					innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription, DNA-dependent	cytosol|nucleus	protein binding|signal transducer activity|transcription coactivator activity			lung(1)|kidney(1)	2	all_cancers(60;4.39e-06)|Ovarian(47;0.0454)		Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)			CGACAGCGGAGACGAGGGCGT	0.652		NaN											0	0	0	1	0	5	24				
SARS2	54938	broad.mit.edu	37	19	39435635	39435635	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr19:39435635G>T	uc010xuq.1	-	4	380	c.172C>A	c.(172-174)CAG>AAG	p.Q58K	FBXO17_uc002okg.1_Missense_Mutation_p.Q223K|FBXO17_uc002okf.1_Missense_Mutation_p.Q232K	NM_017827	NP_060297	Q9NP81	SYSM_HUMAN	seryl-tRNA synthetase 2 isoform b precursor	Error:Variant_position_missing_in_Q9NP81_after_alignment					seryl-tRNA aminoacylation	mitochondrial matrix	ATP binding|protein binding|serine-tRNA ligase activity			ovary(1)|pancreas(1)|skin(1)	3	all_cancers(60;2.74e-06)|all_epithelial(25;4.36e-06)|Ovarian(47;0.0454)		Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)			TCAGTCCACTGAAGGACCGGG	0.612		NaN											1	0	7.33532e-06	1	7.51282e-06	24	112				
ZFP36	7538	broad.mit.edu	37	19	39899334	39899334	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr19:39899334G>A	uc002olh.1	+	2	1034	c.976G>A	c.(976-978)GAG>AAG	p.E326K	ZFP36_uc010egn.1_Silent_p.L198L	NM_003407	NP_003398	P26651	TTP_HUMAN	zinc finger protein 36, C3H type, homolog	326					positive regulation of nuclear-transcribed mRNA poly(A) tail shortening	cytosol|nucleus	AU-rich element binding|DNA binding|mRNA binding|protein binding|single-stranded RNA binding|zinc ion binding			pancreas(1)	1	all_cancers(60;6.54e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.53e-06)|Ovarian(47;0.0512)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			CTCTGTTTCTGAGTGACAAAG	0.617		NaN											0	0	0	1	0	16	70				
HIPK4	147746	broad.mit.edu	37	19	40889768	40889768	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr19:40889768G>A	uc002onp.2	-	2	1029	c.744C>T	c.(742-744)TTC>TTT	p.F248F		NM_144685	NP_653286	Q8NE63	HIPK4_HUMAN	homeodomain interacting protein kinase 4	248	Protein kinase.					cytoplasm	ATP binding|protein serine/threonine kinase activity			ovary(1)|stomach(1)	2			Lung(22;4.95e-05)|LUSC - Lung squamous cell carcinoma(20;0.000292)			TGCGCTTGAAGAAGTGGTGGG	0.627		NaN											0	0	0	1	0	11	97				
ITPKC	80271	broad.mit.edu	37	19	41235160	41235160	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr19:41235160G>C	uc002oot.2	+	3	1342	c.1309G>C	c.(1309-1311)GAG>CAG	p.E437Q		NM_025194	NP_079470	Q96DU7	IP3KC_HUMAN	inositol 1,4,5-trisphosphate 3-kinase C	437						cytoplasm|nucleus	ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity				0			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			CTGTCAGTGTGAGCAGCGCAG	0.532		NaN											0	0	0	1	0	14	56				
CYP2A13	1553	broad.mit.edu	37	19	41596470	41596470	+	Splice_Site	SNP	G	G	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr19:41596470G>T	uc002opt.2	+	4	663	c.654_splice	c.e4+1	p.Q218_splice		NM_000766	NP_000757	Q16696	CP2AD_HUMAN	cytochrome P450, family 2, subfamily A,						xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|heme binding			ovary(2)|skin(1)	3					Clomipramine(DB01242)|Nicotine(DB00184)	CACGGGGCAGGTAACTGGCTG	0.597		NaN											1	0	2.23348e-06	1	2.29586e-06	15	103				
ZNF526	116115	broad.mit.edu	37	19	42728670	42728670	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr19:42728670G>A	uc002osz.1	+	3	271	c.115G>A	c.(115-117)GAG>AAG	p.E39K		NM_133444	NP_597701	Q8TF50	ZN526_HUMAN	zinc finger protein 526	39					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Prostate(69;0.0704)				AGAAGTGACTGAGATGACACC	0.542		NaN											0	0	0	1	0	49	123				
CIC	23152	broad.mit.edu	37	19	42797160	42797160	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr19:42797160G>A	uc002otf.1	+	15	3562	c.3522G>A	c.(3520-3522)CCG>CCA	p.P1174P		NM_015125	NP_055940	Q96RK0	CIC_HUMAN	capicua homolog	1174	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			ovary(4)|breast(4)|lung(1)|central_nervous_system(1)|skin(1)	11		Prostate(69;0.00682)				GGCCCAGCCCGAAGGCCCCCC	0.652		NaN	T	DUX4	soft tissue sarcoma								0	0	0	1	0	14	59				
TMEM145	284339	broad.mit.edu	37	19	42828958	42828958	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr19:42828958C>G	uc002otk.1	+	15	1523	c.1471C>G	c.(1471-1473)CGA>GGA	p.R491G	MEGF8_uc002otl.3_5'Flank	NM_173633	NP_775904	Q8NBT3	TM145_HUMAN	transmembrane protein 145	491						integral to membrane					0		Prostate(69;0.00682)				TGGCCCCCTTCGAGACCTCTG	0.716		NaN											0	0	0	1	0	8	27				
MEGF8	1954	broad.mit.edu	37	19	42863100	42863100	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr19:42863100G>A	uc002otl.3	+	29	5771	c.5136G>A	c.(5134-5136)CTG>CTA	p.L1712L	MEGF8_uc002otm.3_Silent_p.L1320L	NM_001410	NP_001401	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	1779	Extracellular (Potential).					integral to membrane	calcium ion binding|structural molecule activity			ovary(1)	1		Prostate(69;0.00682)				CACCTCACCTGAAGGAGGTGA	0.577		NaN											0	0	0	1	0	5	16				
KCNN4	3783	broad.mit.edu	37	19	44273668	44273668	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr19:44273668G>C	uc002oxl.2	-	6	1371	c.975C>G	c.(973-975)TTC>TTG	p.F325L	KCNN4_uc010eiz.2_Intron	NM_002250	NP_002241	O15554	KCNN4_HUMAN	intermediate conductance calcium-activated	325	Calmodulin-binding.				defense response	voltage-gated potassium channel complex	calcium-activated potassium channel activity|calmodulin binding			ovary(2)	2		Prostate(69;0.0352)			Clotrimazole(DB00257)|Halothane(DB01159)|Quinine(DB00468)	TATGTTTGTAGAACATCCAGG	0.592		NaN											0	0	0	1	0	50	127				
ZNF283	284349	broad.mit.edu	37	19	44351774	44351774	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr19:44351774C>T	uc002oxr.3	+	7	1289	c.1021C>T	c.(1021-1023)CAT>TAT	p.H341Y	ZNF283_uc002oxp.3_Missense_Mutation_p.H202Y	NM_181845	NP_862828	Q8N7M2	ZN283_HUMAN	zinc finger protein 283	341					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Prostate(69;0.0352)				TGAGATAATTCATACAGGTGA	0.393		NaN											0	0	0	1	0	19	49				
MARK4	57787	broad.mit.edu	37	19	45781258	45781258	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr19:45781258G>A	uc002pbb.1	+	9	869	c.864G>A	c.(862-864)CGG>CGA	p.R288R	MARK4_uc002paz.1_Intron|MARK4_uc002pba.1_Silent_p.R288R|MARK4_uc002pbc.1_Silent_p.R154R			Q96L34	MARK4_HUMAN	RecName: Full=MAP/microtubule affinity-regulating kinase 4;          EC=2.7.11.1; AltName: Full=MAP/microtubule affinity-regulating kinase-like 1;	288	Protein kinase.				microtubule bundle formation|nervous system development|positive regulation of programmed cell death	centrosome|neuron projection	ATP binding|gamma-tubulin binding|microtubule binding|protein serine/threonine kinase activity|tau-protein kinase activity|ubiquitin binding			central_nervous_system(2)|large_intestine(1)	3		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0102)		GCATCCTGCGGAGATTTTTGG	0.572		NaN											0	0	0	1	0	45	102				
DMWD	1762	broad.mit.edu	37	19	46294229	46294229	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr19:46294229G>C	uc002pdj.1	-	2	604	c.558C>G	c.(556-558)TTC>TTG	p.F186L	DMWD_uc002pdk.1_Missense_Mutation_p.F186L	NM_004943	NP_004934	Q09019	DMWD_HUMAN	dystrophia myotonica-containing WD repeat motif	186					meiosis						0		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00604)|GBM - Glioblastoma multiforme(486;0.0807)|Epithelial(262;0.236)		GACCCGCTGAGAAGCCCACCA	0.562		NaN											0	0	0	1	0	40	108				
IGFL1	374918	broad.mit.edu	37	19	46733686	46733686	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr19:46733686G>C	uc002pee.2	+	3	258	c.235G>C	c.(235-237)GAG>CAG	p.E79Q		NM_198541	NP_940943	Q6UW32	IGFL1_HUMAN	IGF-like family member 1 precursor	79						extracellular space	protein binding				0		Ovarian(192;0.0731)|all_neural(266;0.196)		OV - Ovarian serous cystadenocarcinoma(262;0.00242)|all cancers(93;0.0132)|GBM - Glioblastoma multiforme(486;0.0294)|Epithelial(262;0.201)		AGTCTGCTTTGAGCAGTGCTG	0.572		NaN											0	0	0	1	0	40	145				
STRN4	29888	broad.mit.edu	37	19	47224014	47224014	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr19:47224014G>C	uc002pfl.2	-	17	2140	c.2107C>G	c.(2107-2109)CTG>GTG	p.L703V	STRN4_uc002pfm.2_Missense_Mutation_p.L710V|STRN4_uc010xyf.1_RNA	NM_013403	NP_037535	Q9NRL3	STRN4_HUMAN	zinedin isoform 1	703	WD 6.					cytoplasm|membrane	armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding				0		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000563)|all cancers(93;0.00138)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.035)		CAGAGACGCAGGGAGCAGTCA	0.637		NaN											0	0	0	1	0	10	57				
GRIN2D	2906	broad.mit.edu	37	19	48908550	48908550	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr19:48908550C>G	uc002pjc.3	+	3	1113	c.1025C>G	c.(1024-1026)CCT>CGT	p.P342R		NM_000836	NP_000827	O15399	NMDE4_HUMAN	N-methyl-D-aspartate receptor subunit 2D	342	Extracellular (Potential).					cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|protein binding			ovary(3)|breast(3)	6		all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		all cancers(93;0.00014)|OV - Ovarian serous cystadenocarcinoma(262;0.000233)|Epithelial(262;0.0112)|GBM - Glioblastoma multiforme(486;0.0161)	L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Orphenadrine(DB01173)	GGTTTCCTTCCTGAGCTCGGC	0.682		NaN											0	0	0	1	0	6	17				
HRC	3270	broad.mit.edu	37	19	49656911	49656911	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr19:49656911G>A	uc002pmv.2	-	1	1771	c.1584C>T	c.(1582-1584)CTC>CTT	p.L528L		NM_002152	NP_002143	P23327	SRCH_HUMAN	histidine rich calcium binding protein	528					muscle contraction	sarcoplasmic reticulum lumen	calcium ion binding			ovary(1)	1		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622)		GGTTCAGGCTGAGGCCATGAC	0.403		NaN											0	0	0	1	0	8	26				
SCAF1	58506	broad.mit.edu	37	19	50155667	50155667	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr19:50155667C>G	uc002poq.2	+	7	2145	c.2021C>G	c.(2020-2022)TCG>TGG	p.S674W		NM_021228	NP_067051	Q9H7N4	SFR19_HUMAN	SR-related CTD-associated factor 1	674	Ser-rich.				mRNA processing|RNA splicing	nucleus	RNA binding				0		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.196)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00113)|GBM - Glioblastoma multiforme(134;0.0204)		GGCTCCACCTCGTGTGGTGAC	0.582		NaN											0	0	0	1	0	11	23				
KLK5	25818	broad.mit.edu	37	19	51452191	51452191	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr19:51452191G>A	uc002pue.2	-	5	734	c.516C>T	c.(514-516)ATC>ATT	p.I172I	KLK5_uc002puf.2_Silent_p.I172I|KLK5_uc002pug.2_Silent_p.I172I	NM_001077491	NP_001070959	Q9Y337	KLK5_HUMAN	kallikrein-related peptidase 5 preproprotein	172	Peptidase S1.				epidermis development|positive regulation of G-protein coupled receptor protein signaling pathway|proteolysis	extracellular space	protein binding|serine-type endopeptidase activity				0		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00379)|GBM - Glioblastoma multiforme(134;0.00888)		AGGAGACGTTGATGGGTCTGA	0.537		NaN											0	0	0	1	0	22	85				
KLK5	25818	broad.mit.edu	37	19	51452357	51452357	+	Missense_Mutation	SNP	C	C	T	rs117067639	byFrequency	TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr19:51452357C>T	uc002pue.2	-	5	568	c.350G>A	c.(349-351)CGT>CAT	p.R117H	KLK5_uc002puf.2_Missense_Mutation_p.R117H|KLK5_uc002pug.2_Missense_Mutation_p.R117H	NM_001077491	NP_001070959	Q9Y337	KLK5_HUMAN	kallikrein-related peptidase 5 preproprotein	117	Peptidase S1.				epidermis development|positive regulation of G-protein coupled receptor protein signaling pathway|proteolysis	extracellular space	protein binding|serine-type endopeptidase activity				0		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00379)|GBM - Glioblastoma multiforme(134;0.00888)		GTGGCCGAGACGGACTCTGAA	0.498		NaN											0	0	0	1	0	29	102				
GP6	51206	broad.mit.edu	37	19	55543735	55543735	+	Missense_Mutation	SNP	G	G	C	rs28385643		TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr19:55543735G>C	uc002qik.2	-	3	125	c.97C>G	c.(97-99)CTG>GTG	p.L33V	GP6_uc002qil.2_Missense_Mutation_p.L33V|GP6_uc010esq.2_Missense_Mutation_p.L33V|RDH13_uc010esr.1_Intron	NM_016363	NP_057447	Q9HCN6	GPVI_HUMAN	glycoprotein VI (platelet) isoform 2	33	Ig-like C2-type 1.|Extracellular (Potential).				enzyme linked receptor protein signaling pathway|leukocyte migration|platelet activation	integral to plasma membrane	collagen binding|transmembrane receptor activity			ovary(1)|central_nervous_system(1)	2			BRCA - Breast invasive adenocarcinoma(297;0.156)	GBM - Glioblastoma multiforme(193;0.0515)		GAGCTGGGCAGAGCCTGGAGG	0.716		NaN											0	0	0	1	0	13	22				
NLRP5	126206	broad.mit.edu	37	19	56539034	56539034	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr19:56539034G>T	uc002qmj.2	+	7	1435	c.1435G>T	c.(1435-1437)GTG>TTG	p.V479L	NLRP5_uc002qmi.2_Missense_Mutation_p.V460L	NM_153447	NP_703148	P59047	NALP5_HUMAN	NACHT, LRR and PYD containing protein 5	479	NACHT.					mitochondrion|nucleolus	ATP binding			ovary(3)|skin(2)|kidney(1)|central_nervous_system(1)	7		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		TCTCATCTGCGTGGCCCTGCA	0.617		NaN											1	0	1.99824e-07	1	2.06659e-07	16	53				
PEG3	5178	broad.mit.edu	37	19	57333096	57333096	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr19:57333096G>A	uc002qnu.2	-	4	943	c.592C>T	c.(592-594)CCT>TCT	p.P198S	ZIM2_uc010ygq.1_5'UTR|ZIM2_uc010ygr.1_5'UTR|ZIM2_uc002qnr.2_Missense_Mutation_p.P73S|ZIM2_uc002qnq.2_Missense_Mutation_p.P73S|ZIM2_uc010etp.2_Missense_Mutation_p.P73S|ZIM2_uc010ygs.1_Missense_Mutation_p.P73S|PEG3_uc002qnt.2_Missense_Mutation_p.P199S|PEG3_uc002qnv.2_Missense_Mutation_p.P198S|PEG3_uc002qnw.2_Missense_Mutation_p.P73S|PEG3_uc002qnx.2_Missense_Mutation_p.P72S|PEG3_uc010etr.2_Missense_Mutation_p.P198S	NM_001146186	NP_001139658	Q9GZU2	PEG3_HUMAN	paternally expressed 3 isoform 1	198					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		GCCACCACAGGAAGGGAAAGA	0.537		NaN											0	0	0	1	0	38	126				
ZIM3	114026	broad.mit.edu	37	19	57646567	57646567	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr19:57646567G>A	uc002qnz.1	-	5	1524	c.1138C>T	c.(1138-1140)CAA>TAA	p.Q380*		NM_052882	NP_443114	Q96PE6	ZIM3_HUMAN	zinc finger, imprinted 3	380	C2H2-type 8.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			pancreas(1)|skin(1)	2		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TTTTTATGTTGAATGAGGTTT	0.373		NaN											0	0	0	1	0	27	97				
ZNF543	125919	broad.mit.edu	37	19	57840340	57840340	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr19:57840340G>A	uc002qoi.1	+	4	1855	c.1510G>A	c.(1510-1512)GAG>AAG	p.E504K		NM_213598	NP_998763	Q08ER8	ZN543_HUMAN	zinc finger protein 543	504					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(1)|pancreas(1)	2		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		TCACACTGGAGAGAAACCCTA	0.517		NaN											0	0	0	1	0	24	83				
ZNF552	79818	broad.mit.edu	37	19	58319728	58319728	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr19:58319728G>C	uc002qqg.2	-	3	1074	c.904C>G	c.(904-906)CAG>GAG	p.Q302E	ZNF587_uc002qqb.2_Intron|ZNF552_uc010yhg.1_Missense_Mutation_p.Q298E	NM_024762	NP_079038	Q9H707	ZN552_HUMAN	zinc finger protein 552	302	C2H2-type 6.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0259)		AAAAATTTCTGACAAACCTCA	0.433		NaN											0	0	0	1	0	25	62				
C19orf18	147685	broad.mit.edu	37	19	58477903	58477903	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr19:58477903C>A	uc002qqv.2	-	4	470	c.366G>T	c.(364-366)ATG>ATT	p.M122I		NM_152474	NP_689687	Q8NEA5	CS018_HUMAN	hypothetical protein LOC147685 precursor	122	Cytoplasmic (Potential).					integral to membrane				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;0.017)		CTTACTATATCATATAGGAGA	0.348		NaN											1	0	0.0293803	1	0.0295198	7	22				
MYT1L	23040	broad.mit.edu	37	2	1795702	1795702	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:1795702C>G	uc002qxe.2	-	25	4325	c.3498G>C	c.(3496-3498)CAG>CAC	p.Q1166H	MYT1L_uc002qxd.2_Missense_Mutation_p.Q1164H|MYT1L_uc010ewk.2_Missense_Mutation_p.Q164H	NM_015025	NP_055840	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	1166					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(5)|central_nervous_system(1)	6	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		TTTCTGGACTCTGATAACGAT	0.363		NaN											0	0	0	1	0	11	30				
TTC15	51112	broad.mit.edu	37	2	3481522	3481522	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:3481522G>C	uc002qxm.1	+	10	2039	c.1833G>C	c.(1831-1833)CAG>CAC	p.Q611H	TTC15_uc002qxn.1_Missense_Mutation_p.Q611H|TTC15_uc010ewm.1_Missense_Mutation_p.Q617H	NM_016030	NP_057114	Q8WVT3	TTC15_HUMAN	tetratricopeptide repeat domain 15	611	TPR 2.						binding			ovary(2)|breast(1)|pancreas(1)	4	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)	all_cancers(51;0.214)		OV - Ovarian serous cystadenocarcinoma(76;0.0402)|Epithelial(75;0.0986)|all cancers(51;0.149)		AAGTAACACAGAAATTAGATG	0.308		NaN											0	0	0	1	0	7	35				
ITGB1BP1	9270	broad.mit.edu	37	2	9546976	9546976	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:9546976G>T	uc002qzj.2	-	7	767	c.590C>A	c.(589-591)TCT>TAT	p.S197Y	ITGB1BP1_uc002qzk.2_Missense_Mutation_p.S147Y|ITGB1BP1_uc002qzl.2_RNA|ITGB1BP1_uc002qzm.2_RNA|ITGB1BP1_uc010yiy.1_Missense_Mutation_p.S153Y|ITGB1BP1_uc002qzn.1_3'UTR	NM_004763	NP_004754	O14713	ITBP1_HUMAN	integrin cytoplasmic domain-associated protein 1	197	PID.				cell migration|cell-matrix adhesion|intracellular protein kinase cascade	cytosol|lamellipodium|membrane|ruffle	protein binding|protein binding				0	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.23)		GGGTTTCTCAGATGTTAATAC	0.368		NaN											1	0	5.3912e-06	1	5.52835e-06	18	46				
E2F6	1876	broad.mit.edu	37	2	11586617	11586617	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:11586617C>A	uc002rbh.2	-	7	1124	c.832G>T	c.(832-834)GAA>TAA	p.E278*	E2F6_uc002rbe.2_Nonsense_Mutation_p.E203*|E2F6_uc002rbf.2_Nonsense_Mutation_p.E246*|E2F6_uc002rbg.2_Nonsense_Mutation_p.E203*|E2F6_uc002rbi.2_Nonsense_Mutation_p.E203*|E2F6_uc010yjl.1_RNA	NM_198256	NP_937987	O75461	E2F6_HUMAN	E2F transcription factor 6	278	Transcription repression.				negative regulation of transcription from RNA polymerase II promoter	MLL1 complex|transcription factor complex	DNA binding|transcription corepressor activity			skin(1)	1	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.114)|OV - Ovarian serous cystadenocarcinoma(76;0.168)		TTGCTTACTTCAAGCAATTCT	0.363		NaN											1	0	0.0931896	1	0.093521	12	34				
MFSD2B	388931	broad.mit.edu	37	2	24239769	24239769	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:24239769G>A	uc002reo.1	+	4	416	c.402G>A	c.(400-402)CTG>CTA	p.L134L	MFSD2B_uc010exz.1_RNA	NM_001080473	NP_001073942	A6NFX1	MFS2B_HUMAN	major facilitator superfamily domain containing	134					transport	integral to membrane				ovary(2)	2						TGTGGTTCCTGCCCCCCTTCA	0.672		NaN											0	0	0	1	0	20	78				
ITSN2	50618	broad.mit.edu	37	2	24524067	24524067	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:24524067G>A	uc002rfe.2	-	11	1295	c.1037C>T	c.(1036-1038)TCA>TTA	p.S346L	ITSN2_uc002rff.2_Missense_Mutation_p.S346L|ITSN2_uc002rfg.2_Missense_Mutation_p.S346L|ITSN2_uc010eyd.2_Missense_Mutation_p.S371L	NM_006277	NP_006268	Q9NZM3	ITSN2_HUMAN	intersectin 2 isoform 1	346					endocytosis|regulation of Rho protein signal transduction	cytoplasm	calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			kidney(2)|ovary(1)|central_nervous_system(1)	4	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTTCTGATATGAAGGCAGAGT	0.338		NaN											0	0	0	1	0	17	35				
NCOA1	8648	broad.mit.edu	37	2	24929894	24929894	+	Missense_Mutation	SNP	G	G	A	rs144856306		TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:24929894G>A	uc002rfk.2	+	11	1813	c.1555G>A	c.(1555-1557)GTT>ATT	p.V519I	NCOA1_uc010eye.2_Missense_Mutation_p.V519I|NCOA1_uc002rfi.2_Missense_Mutation_p.V368I|NCOA1_uc002rfj.2_Missense_Mutation_p.V519I|NCOA1_uc002rfl.2_Missense_Mutation_p.V519I	NM_003743	NP_003734	Q15788	NCOA1_HUMAN	nuclear receptor coactivator 1 isoform 1	519	Interaction with STAT3.|Ser-rich.								PAX3/NCOA1(8)	soft_tissue(8)|ovary(1)|lung(1)|skin(1)	11	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AAGCTCTCCCGTTGGCATGAC	0.423		NaN	T	PAX3	alveolar rhadomyosarcoma								0	0	0	1	0	22	68				
DNMT3A	1788	broad.mit.edu	37	2	25457247	25457247	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:25457247C>T	uc002rgc.2	-	23	2897	c.2640G>A	c.(2638-2640)ATG>ATA	p.M880I	DNMT3A_uc002rgd.2_Missense_Mutation_p.M880I|DNMT3A_uc010eyi.2_RNA|DNMT3A_uc002rgb.2_Missense_Mutation_p.M691I	NM_022552	NP_072046	Q9Y6K1	DNM3A_HUMAN	DNA cytosine methyltransferase 3 alpha isoform	880					regulation of gene expression by genetic imprinting	cytoplasm|euchromatin|nuclear matrix	DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding			haematopoietic_and_lymphoid_tissue(133)|lung(4)|ovary(3)	140	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCAAGCGGCTCATGTTGGAGA	0.597		NaN	Mis|F|N|S		AML								0	0	0	1	0	28	58				
IFT172	26160	broad.mit.edu	37	2	27676285	27676285	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:27676285C>G	uc002rku.2	-	35	3968	c.3917G>C	c.(3916-3918)GGA>GCA	p.G1306A	IFT172_uc010ezb.2_RNA	NM_015662	NP_056477	Q9UG01	IF172_HUMAN	selective LIM binding factor homolog	1306	TPR 10.				cilium assembly	cilium	binding			large_intestine(1)|ovary(1)	2	Acute lymphoblastic leukemia(172;0.155)					GCCGCTGTTTCCAGAGTCTCG	0.587		NaN											0	0	0	1	0	19	89				
IFT172	26160	broad.mit.edu	37	2	27700949	27700949	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:27700949C>T	uc002rku.2	-	11	1131	c.1080G>A	c.(1078-1080)GTG>GTA	p.V360V	IFT172_uc002rkw.2_Silent_p.V360V|IFT172_uc010yls.1_Silent_p.V339V|IFT172_uc010ezc.2_Silent_p.V360V|IFT172_uc002rkv.2_Silent_p.V334V	NM_015662	NP_056477	Q9UG01	IF172_HUMAN	selective LIM binding factor homolog	360					cilium assembly	cilium	binding			large_intestine(1)|ovary(1)	2	Acute lymphoblastic leukemia(172;0.155)					CTAGGATTTTCACCTCTTCCA	0.493		NaN											0	0	0	1	0	55	147				
BIRC6	57448	broad.mit.edu	37	2	32620589	32620589	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:32620589C>G	uc010ezu.2	+	6	1096	c.962C>G	c.(961-963)TCT>TGT	p.S321C		NM_016252	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat-containing 6	321	BIR.				anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			ovary(5)|skin(4)|lung(2)|central_nervous_system(1)|breast(1)|pancreas(1)	14	Acute lymphoblastic leukemia(172;0.155)					CCTGCCTCATCTGGAGATGAT	0.323		NaN											0	0	0	1	0	35	83				
BIRC6	57448	broad.mit.edu	37	2	32678953	32678953	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:32678953C>G	uc010ezu.2	+	23	4830	c.4696C>G	c.(4696-4698)CTG>GTG	p.L1566V		NM_016252	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat-containing 6	1566					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			ovary(5)|skin(4)|lung(2)|central_nervous_system(1)|breast(1)|pancreas(1)	14	Acute lymphoblastic leukemia(172;0.155)					AGTTGAACCTCTGCACTTTAC	0.383		NaN											0	0	0	1	0	24	59				
STRN	6801	broad.mit.edu	37	2	37113903	37113903	+	Missense_Mutation	SNP	T	T	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:37113903T>A	uc002rpn.2	-	8	1007	c.998A>T	c.(997-999)AAG>ATG	p.K333M	STRN_uc010ezx.2_Intron	NM_003162	NP_003153	O43815	STRN_HUMAN	striatin, calmodulin binding protein	333					dendrite development|locomotory behavior|negative regulation of cell proliferation|tight junction assembly|Wnt receptor signaling pathway	cytoplasm|dendritic spine|neuronal cell body|postsynaptic density|postsynaptic membrane|tight junction	armadillo repeat domain binding|calmodulin binding|estrogen receptor binding|protein complex binding|protein phosphatase 2A binding			skin(1)	1		Ovarian(717;0.0129)|all_hematologic(82;0.21)				GTATTGTTCCTTGAGTTTGGT	0.403		NaN											0	0	0	1	0	20	76				
CEBPZ	10153	broad.mit.edu	37	2	37458641	37458641	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:37458641C>G	uc002rpz.2	-	1	100	c.70G>C	c.(70-72)GAT>CAT	p.D24H	C2orf56_uc010ynj.1_5'Flank|C2orf56_uc002rqa.3_5'Flank|C2orf56_uc002rqc.3_5'Flank|C2orf56_uc010ynk.1_5'Flank|C2orf56_uc010ynl.1_5'Flank	NM_005760	NP_005751	Q03701	CEBPZ_HUMAN	CCAAT/enhancer binding protein zeta	24					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding			pancreas(1)	1		all_hematologic(82;0.21)				TCGTCCGGATCTTCTACTGCC	0.602		NaN											0	0	0	1	0	34	103				
TMEM178	130733	broad.mit.edu	37	2	39893156	39893156	+	Silent	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:39893156C>G	uc002rrt.2	+	1	67	c.42C>G	c.(40-42)CTC>CTG	p.L14L	TMEM178_uc010fam.1_Silent_p.L14L	NM_152390	NP_689603	Q8NBL3	TM178_HUMAN	transmembrane protein 178 precursor	14						integral to membrane					0		all_hematologic(82;0.248)				GCCTCGGCCTCAGCCTGTGCT	0.547		NaN											0	0	0	1	0	6	19				
PLEKHH2	130271	broad.mit.edu	37	2	43924477	43924477	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:43924477G>A	uc010yny.1	+	7	753	c.670G>A	c.(670-672)GAA>AAA	p.E224K	PLEKHH2_uc002rte.3_Missense_Mutation_p.E224K|PLEKHH2_uc002rtf.3_Missense_Mutation_p.E223K	NM_172069	NP_742066	Q8IVE3	PKHH2_HUMAN	pleckstrin homology domain containing, family H	224						cytoplasm|cytoskeleton|integral to membrane	binding			skin(2)|central_nervous_system(1)	3		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				TGAGTTCACTGAAGGAAAAGA	0.358		NaN											0	0	0	1	0	15	44				
ABCG5	64240	broad.mit.edu	37	2	44050022	44050022	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:44050022C>G	uc002rtn.2	-	10	1517	c.1377G>C	c.(1375-1377)CAG>CAC	p.Q459H	ABCG5_uc002rtm.2_Missense_Mutation_p.Q64H|ABCG5_uc002rto.2_Missense_Mutation_p.Q288H|ABCG5_uc002rtp.2_Missense_Mutation_p.Q64H	NM_022436	NP_071881	Q9H222	ABCG5_HUMAN	ATP-binding cassette sub-family G member 5	459	ABC transmembrane type-2.|Cytoplasmic (Potential).				cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity			ovary(1)|skin(1)	2		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				TCTGCCACTTCTGGTAGAGGC	0.572		NaN											0	0	0	1	0	17	35				
SIX2	10736	broad.mit.edu	37	2	45236023	45236023	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:45236023G>C	uc002ruo.2	-	1	520	c.227C>G	c.(226-228)TCG>TGG	p.S76W	SIX2_uc002rup.2_Missense_Mutation_p.S76W	NM_016932	NP_058628	Q9NPC8	SIX2_HUMAN	SIX homeobox 2	76						nucleus	sequence-specific DNA binding transcription factor activity			pancreas(1)	1		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				GTTGTGCGGCGAGAACTGGTG	0.627		NaN											0	0	0	1	0	30	112				
EPAS1	2034	broad.mit.edu	37	2	46609643	46609643	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:46609643C>T	uc002ruv.2	+	15	2855	c.2367C>T	c.(2365-2367)ATC>ATT	p.I789I	EPAS1_uc002ruw.2_Silent_p.I255I	NM_001430	NP_001421	Q99814	EPAS1_HUMAN	endothelial PAS domain protein 1	789					angiogenesis|myoblast cell fate commitment|positive regulation of transcription from RNA polymerase II promoter|response to hypoxia	transcription factor complex	histone acetyltransferase binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription coactivator activity|transcription factor binding			ovary(1)|skin(1)	2		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	LUSC - Lung squamous cell carcinoma(58;0.151)			CATCTGCCATCAGTCCCGGGG	0.592		NaN											0	0	0	1	0	36	137				
PSME4	23198	broad.mit.edu	37	2	54163918	54163918	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:54163918G>T	uc002rxp.2	-	6	798	c.742C>A	c.(742-744)CTC>ATC	p.L248I	PSME4_uc010yop.1_Missense_Mutation_p.L134I|PSME4_uc010yoq.1_RNA|PSME4_uc010fbu.1_5'UTR|PSME4_uc010fbv.1_Intron	NM_014614	NP_055429	Q14997	PSME4_HUMAN	proteasome (prosome, macropain) activator	248					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)			CATTGTGGGAGATTTTGCACT	0.353		NaN											1	0	1.10513e-12	1	1.15994e-12	21	56				
SPTBN1	6711	broad.mit.edu	37	2	54856469	54856469	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:54856469C>T	uc002rxu.2	+	14	2447	c.2198C>T	c.(2197-2199)TCG>TTG	p.S733L	SPTBN1_uc002rxv.1_Missense_Mutation_p.S733L|SPTBN1_uc002rxx.2_Missense_Mutation_p.S720L	NM_003128	NP_003119	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1 isoform 1	733	Spectrin 5.				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)			GAGCAGCTCTCGGCCATTCGG	0.572		NaN											0	0	0	1	0	31	96				
CCDC88A	55704	broad.mit.edu	37	2	55523455	55523455	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:55523455C>T	uc002ryv.2	-	30	5869	c.5027G>A	c.(5026-5028)GGA>GAA	p.G1676E	CCDC88A_uc010yoz.1_Missense_Mutation_p.G1649E|CCDC88A_uc010ypa.1_Missense_Mutation_p.G1676E|CCDC88A_uc002ryt.2_5'UTR|CCDC88A_uc010fbw.2_Missense_Mutation_p.G178E|CCDC88A_uc002ryu.2_Missense_Mutation_p.G931E|CCDC88A_uc002rys.2_Missense_Mutation_p.G634E|CCDC88A_uc002ryw.2_Missense_Mutation_p.G960E|CCDC88A_uc010fby.1_Missense_Mutation_p.G528E	NM_001135597	NP_001129069	Q3V6T2	GRDN_HUMAN	coiled-coil domain containing 88A isoform 1	1677					activation of protein kinase B activity|cell migration|cellular membrane organization|DNA replication|lamellipodium assembly|microtubule cytoskeleton organization|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of DNA replication|regulation of neuron projection development|TOR signaling cascade	cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|Golgi apparatus|lamellipodium|plasma membrane	actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding			ovary(2)|skin(2)	4						AACTTCACTTCCAGGGGAACC	0.398		NaN											0	0	0	1	0	16	54				
CCDC88A	55704	broad.mit.edu	37	2	55535955	55535955	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:55535955C>G	uc002ryv.2	-	25	5216	c.4374G>C	c.(4372-4374)AAG>AAC	p.K1458N	CCDC88A_uc010yoz.1_Missense_Mutation_p.K1459N|CCDC88A_uc010ypa.1_Missense_Mutation_p.K1458N|CCDC88A_uc010fbw.2_Missense_Mutation_p.K82N|CCDC88A_uc002ryu.2_Missense_Mutation_p.K741N|CCDC88A_uc002rys.2_Missense_Mutation_p.K444N|CCDC88A_uc002ryw.2_Missense_Mutation_p.K742N|CCDC88A_uc010fby.1_Missense_Mutation_p.K338N	NM_001135597	NP_001129069	Q3V6T2	GRDN_HUMAN	coiled-coil domain containing 88A isoform 1	1459					activation of protein kinase B activity|cell migration|cellular membrane organization|DNA replication|lamellipodium assembly|microtubule cytoskeleton organization|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of DNA replication|regulation of neuron projection development|TOR signaling cascade	cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|Golgi apparatus|lamellipodium|plasma membrane	actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding			ovary(2)|skin(2)	4						TGCTGCTTTTCTTGGTCCCCA	0.393		NaN											0	0	0	1	0	14	30				
UGP2	7360	broad.mit.edu	37	2	64112904	64112904	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:64112904G>C	uc002scm.2	+	6	1063	c.757G>C	c.(757-759)GAT>CAT	p.D253H	UGP2_uc002scl.2_Missense_Mutation_p.D242H|UGP2_uc010ypx.1_Missense_Mutation_p.D262H	NM_006759	NP_006750	Q16851	UGPA_HUMAN	UDP-glucose pyrophosphorylase 2 isoform a	253		Magnesium (By similarity).			glycogen biosynthetic process|phosphorylation|UDP-glucose metabolic process|UDP-glucuronate biosynthetic process|xenobiotic metabolic process	cytosol	metal ion binding|protein binding|UTP:glucose-1-phosphate uridylyltransferase activity				0						GTCTAACATAGATAATCTGGG	0.388		NaN											0	0	0	1	0	19	65				
DYSF	8291	broad.mit.edu	37	2	71883391	71883391	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:71883391G>C	uc002sie.2	+	42	4985	c.4609G>C	c.(4609-4611)GAA>CAA	p.E1537Q	DYSF_uc010feg.2_Missense_Mutation_p.E1568Q|DYSF_uc010feh.2_Missense_Mutation_p.E1544Q|DYSF_uc002sig.3_Missense_Mutation_p.E1523Q|DYSF_uc010yqx.1_RNA|DYSF_uc010fee.2_Missense_Mutation_p.E1558Q|DYSF_uc010fef.2_Missense_Mutation_p.E1575Q|DYSF_uc010fei.2_Missense_Mutation_p.E1554Q|DYSF_uc010fek.2_Missense_Mutation_p.E1555Q|DYSF_uc010fej.2_Missense_Mutation_p.E1545Q|DYSF_uc010fel.2_Missense_Mutation_p.E1524Q|DYSF_uc010feo.2_Missense_Mutation_p.E1569Q|DYSF_uc010fem.2_Missense_Mutation_p.E1559Q|DYSF_uc010fen.2_Missense_Mutation_p.E1576Q|DYSF_uc002sif.2_Missense_Mutation_p.E1538Q|DYSF_uc010yqy.1_Missense_Mutation_p.E418Q|DYSF_uc010yqz.1_Missense_Mutation_p.E298Q	NM_003494	NP_003485	O75923	DYSF_HUMAN	dysferlin isoform 8	1537	Cytoplasmic (Potential).					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			ovary(3)|breast(2)|pancreas(1)|skin(1)	7						GGAGGAGACAGAAGATCCATC	0.507		NaN											0	0	0	1	0	77	263				
MAT2A	4144	broad.mit.edu	37	2	85768794	85768794	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:85768794G>C	uc002spr.2	+	4	454	c.331G>C	c.(331-333)GAG>CAG	p.E111Q	MAT2A_uc010ysr.1_Missense_Mutation_p.E111Q|MAT2A_uc010fgk.2_Missense_Mutation_p.E85Q|MAT2A_uc010fgl.2_Missense_Mutation_p.E48Q|MAT2A_uc010fgm.1_Missense_Mutation_p.E48Q	NM_005911	NP_005902	P31153	METK2_HUMAN	methionine adenosyltransferase II, alpha	111					methylation|xenobiotic metabolic process	cytosol	ATP binding|metal ion binding|methionine adenosyltransferase activity				0					L-Methionine(DB00134)|S-Adenosylmethionine(DB00118)	GGTAGCCTTGGAGCAACAGTC	0.408		NaN											0	0	0	1	0	12	40				
MAT2A	4144	broad.mit.edu	37	2	85769496	85769496	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:85769496G>T	uc002spr.2	+	6	891	c.768G>T	c.(766-768)CAG>CAT	p.Q256H	MAT2A_uc010ysr.1_Missense_Mutation_p.Q256H|MAT2A_uc010fgk.2_Missense_Mutation_p.Q230H|MAT2A_uc010fgl.2_Missense_Mutation_p.Q193H|MAT2A_uc010fgm.1_3'UTR	NM_005911	NP_005902	P31153	METK2_HUMAN	methionine adenosyltransferase II, alpha	256					methylation|xenobiotic metabolic process	cytosol	ATP binding|metal ion binding|methionine adenosyltransferase activity				0					L-Methionine(DB00134)|S-Adenosylmethionine(DB00118)	GTGGGCCTCAGGTAATGTCAT	0.383		NaN											1	0	0.014758	1	0.0148545	5	29				
MAT2A	4144	broad.mit.edu	37	2	85770096	85770096	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:85770096G>A	uc002spr.2	+	8	1147	c.1024G>A	c.(1024-1026)GAG>AAG	p.E342K	MAT2A_uc010ysr.1_Missense_Mutation_p.E342K|MAT2A_uc010fgk.2_Missense_Mutation_p.E316K|MAT2A_uc010fgl.2_Missense_Mutation_p.E279K	NM_005911	NP_005902	P31153	METK2_HUMAN	methionine adenosyltransferase II, alpha	342					methylation|xenobiotic metabolic process	cytosol	ATP binding|metal ion binding|methionine adenosyltransferase activity				0					L-Methionine(DB00134)|S-Adenosylmethionine(DB00118)	TCAGAAGAGTGAGAGAGAGCT	0.403		NaN											0	0	0	1	0	15	62				
MAT2A	4144	broad.mit.edu	37	2	85770102	85770102	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:85770102G>C	uc002spr.2	+	8	1153	c.1030G>C	c.(1030-1032)GAG>CAG	p.E344Q	MAT2A_uc010ysr.1_Missense_Mutation_p.E344Q|MAT2A_uc010fgk.2_Missense_Mutation_p.E318Q|MAT2A_uc010fgl.2_Missense_Mutation_p.E281Q	NM_005911	NP_005902	P31153	METK2_HUMAN	methionine adenosyltransferase II, alpha	344					methylation|xenobiotic metabolic process	cytosol	ATP binding|metal ion binding|methionine adenosyltransferase activity				0					L-Methionine(DB00134)|S-Adenosylmethionine(DB00118)	GAGTGAGAGAGAGCTATTAGA	0.408		NaN											0	0	0	1	0	17	61				
MAT2A	4144	broad.mit.edu	37	2	85770125	85770125	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:85770125G>C	uc002spr.2	+	8	1176	c.1053G>C	c.(1051-1053)AAG>AAC	p.K351N	MAT2A_uc010ysr.1_Missense_Mutation_p.K351N|MAT2A_uc010fgk.2_Missense_Mutation_p.K325N|MAT2A_uc010fgl.2_Missense_Mutation_p.K288N	NM_005911	NP_005902	P31153	METK2_HUMAN	methionine adenosyltransferase II, alpha	351					methylation|xenobiotic metabolic process	cytosol	ATP binding|metal ion binding|methionine adenosyltransferase activity				0					L-Methionine(DB00134)|S-Adenosylmethionine(DB00118)	TTGTGAAGAAGAATTTCGATC	0.413		NaN											0	0	0	1	0	16	60				
C2orf68	388969	broad.mit.edu	37	2	85836187	85836187	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:85836187C>T	uc002sqc.2	-	4	454	c.382G>A	c.(382-384)GAT>AAT	p.D128N	USP39_uc002sqb.2_Intron	NM_001013649	NP_001013671	Q2NKX9	CB068_HUMAN	hypothetical protein LOC388969	128										central_nervous_system(1)	1						CCTGGGTCATCACCCTACGTG	0.552		NaN											0	0	0	1	0	17	45				
LMAN2L	81562	broad.mit.edu	37	2	97403767	97403767	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:97403767C>T	uc002swu.2	-	2	261	c.225G>A	c.(223-225)ATG>ATA	p.M75I	LMAN2L_uc002swv.2_Missense_Mutation_p.M75I|LMAN2L_uc010yut.1_5'UTR|LMAN2L_uc010yuu.1_Intron|LMAN2L_uc010yuv.1_Intron|LMAN2L_uc010yuw.1_Intron|LMAN2L_uc002sww.2_5'UTR|LMAN2L_uc010yux.1_5'UTR	NM_030805	NP_110432	Q9H0V9	LMA2L_HUMAN	lectin, mannose-binding 2-like isoform 2	75	L-type lectin-like.|Lumenal (Potential).				ER to Golgi vesicle-mediated transport|protein folding|protein transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle|Golgi membrane|integral to membrane	mannose binding|metal ion binding				0						TGGCATTGCCCATCAGATTCC	0.493		NaN											0	0	0	1	0	16	24				
C2orf49	79074	broad.mit.edu	37	2	105954067	105954067	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:105954067G>A	uc002tcs.1	+	1	55	c.23G>A	c.(22-24)CGC>CAC	p.R8H	C2orf49_uc010fjd.1_Missense_Mutation_p.R8H	NM_024093	NP_076998	Q9BVC5	ASHWN_HUMAN	ashwin	8						tRNA-splicing ligase complex					0						GTGGGCGGTCGCAGCTGCACG	0.672		NaN											0	0	0	1	0	11	28				
RANBP2	5903	broad.mit.edu	37	2	109381763	109381763	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:109381763G>A	uc002tem.3	+	20	4894	c.4768G>A	c.(4768-4770)GAG>AAG	p.E1590K		NM_006267	NP_006258	P49792	RBP2_HUMAN	RAN binding protein 2	1590					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						TGGTACTTCAGAGACAAGCAA	0.453		NaN											0	0	0	1	0	43	125				
CCDC138	165055	broad.mit.edu	37	2	109411132	109411132	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:109411132C>G	uc002ten.1	+	5	591	c.531C>G	c.(529-531)ATC>ATG	p.I177M	CCDC138_uc002teo.1_Missense_Mutation_p.I177M|CCDC138_uc002tep.1_Translation_Start_Site|CCDC138_uc010fjm.1_Translation_Start_Site	NM_144978	NP_659415	Q96M89	CC138_HUMAN	coiled-coil domain containing 138	177											0						CACATCAGATCAGTCAGATAT	0.373		NaN											0	0	0	1	0	12	47				
BUB1	699	broad.mit.edu	37	2	111425410	111425410	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:111425410C>G	uc002tgc.2	-	7	696	c.584G>C	c.(583-585)GGA>GCA	p.G195A	BUB1_uc010yxh.1_Missense_Mutation_p.G175A|BUB1_uc010fkb.2_Missense_Mutation_p.G195A|BUB1_uc002tgd.2_Missense_Mutation_p.G195A	NM_004336	NP_004327	O43683	BUB1_HUMAN	budding uninhibited by benzimidazoles 1	195					apoptosis|cell division|chromosome segregation|interspecies interaction between organisms|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|regulation of sister chromatid cohesion	condensed chromosome kinetochore|cytosol	ATP binding|protein binding|protein serine/threonine kinase activity			lung(2)|breast(2)|stomach(1)|ovary(1)|kidney(1)	7		Ovarian(717;0.0822)		BRCA - Breast invasive adenocarcinoma(221;0.0556)		AGATATCACTCCAGAAAGCTC	0.323		NaN											0	0	0	1	0	14	72				
IL1B	3553	broad.mit.edu	37	2	113590374	113590374	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:113590374C>T	uc002tii.1	-	5	418	c.331G>A	c.(331-333)GAG>AAG	p.E111K	IL1B_uc002tih.1_Missense_Mutation_p.E80K	NM_000576	NP_000567	P01584	IL1B_HUMAN	interleukin 1, beta proprotein	111					activation of MAPK activity|anti-apoptosis|apoptosis|cell-cell signaling|cellular response to drug|cellular response to mechanical stimulus|cytokine-mediated signaling pathway|embryo implantation|fever generation|negative regulation of adiponectin secretion|negative regulation of cell proliferation|negative regulation of glucose transport|negative regulation of insulin receptor signaling pathway|negative regulation of lipid catabolic process|negative regulation of MAP kinase activity|positive regulation of angiogenesis|positive regulation of calcidiol 1-monooxygenase activity|positive regulation of cell adhesion molecule production|positive regulation of cell division|positive regulation of fever generation|positive regulation of granulocyte macrophage colony-stimulating factor production|positive regulation of heterotypic cell-cell adhesion|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of interferon-gamma production|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of lipid catabolic process|positive regulation of membrane protein ectodomain proteolysis|positive regulation of mitosis|positive regulation of monocyte chemotactic protein-1 production|positive regulation of myosin light chain kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric oxide biosynthetic process|positive regulation of prostaglandin secretion|positive regulation of protein export from nucleus|positive regulation of T cell proliferation|positive regulation vascular endothelial growth factor production|regulation of insulin secretion|sequestering of triglyceride|smooth muscle adaptation	cytosol|extracellular space	cytokine activity|growth factor activity|interleukin-1 receptor binding|protein domain specific binding	p.E111K(1)		lung(3)|breast(1)	4					Anakinra(DB00026)|Minocycline(DB01017)|Procaterol(DB01366)	ACATAAGCCTCGTTATCCCAT	0.488		NaN											0	0	0	1	0	29	101				
IL1F7	27178	broad.mit.edu	37	2	113676180	113676180	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:113676180C>T	uc002tij.2	+	5	493	c.451C>T	c.(451-453)CGC>TGC	p.R151C	IL1F7_uc002tik.2_Missense_Mutation_p.R130C|IL1F7_uc002til.2_Missense_Mutation_p.R111C|IL1F7_uc002tim.2_Missense_Mutation_p.R90C|IL1F7_uc002tin.2_Missense_Mutation_p.R125C	NM_014439	NP_055254	Q9NZH6	IL37_HUMAN	interleukin 1 family, member 7 isoform 1	151					immune response	cytosol|extracellular space|nucleus	cytokine activity|interleukin-1 receptor antagonist activity|interleukin-1 receptor binding				0						GGAATCAGCACGCCGGCCCTT	0.517		NaN											0	0	0	1	0	12	47				
GLI2	2736	broad.mit.edu	37	2	121740439	121740439	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:121740439C>G	uc010flp.2	+	10	1696	c.1666C>G	c.(1666-1668)CGC>GGC	p.R556G	GLI2_uc002tmq.1_Missense_Mutation_p.R228G|GLI2_uc002tmr.1_Missense_Mutation_p.R211G|GLI2_uc002tmt.3_Missense_Mutation_p.R228G|GLI2_uc002tmu.3_Missense_Mutation_p.R211G|GLI2_uc002tmw.1_Missense_Mutation_p.R539G	NM_005270	NP_005261	P10070	GLI2_HUMAN	GLI-Kruppel family member GLI2	556	C2H2-type 4.				axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(8)|lung(2)|breast(1)|central_nervous_system(1)|pancreas(1)	13	Renal(3;0.0496)	Prostate(154;0.0623)				GCACCAGAATCGCACCCACTC	0.627		NaN											0	0	0	1	0	18	91				
TFCP2L1	29842	broad.mit.edu	37	2	122004422	122004422	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:122004422G>A	uc002tmx.2	-	6	722	c.629C>T	c.(628-630)TCA>TTA	p.S210L	TFCP2L1_uc010flr.2_Missense_Mutation_p.S210L	NM_014553	NP_055368	Q9NZI6	TF2L1_HUMAN	LBP-9	210					female pregnancy|steroid biosynthetic process	mitochondrion|nucleolus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			pancreas(2)|ovary(1)	3	Renal(3;0.01)					GCAGCTGGCTGAGTGCAGGTG	0.602		NaN											0	0	0	1	0	31	137				
IWS1	55677	broad.mit.edu	37	2	128253659	128253659	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:128253659C>T	uc002ton.2	-	7	1934	c.1631G>A	c.(1630-1632)AGA>AAA	p.R544K	IWS1_uc010yzl.1_RNA	NM_017969	NP_060439	Q96ST2	IWS1_HUMAN	IWS1 homolog	544					transcription, DNA-dependent	nucleus	DNA binding			ovary(1)	1	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0735)		GCGGTTCCGTCTGCGCTTGCC	0.468		NaN											0	0	0	1	0	78	249				
UGGT1	56886	broad.mit.edu	37	2	128939716	128939716	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:128939716G>A	uc002tps.2	+	37	4274	c.4096G>A	c.(4096-4098)GAT>AAT	p.D1366N	UGGT1_uc002tpr.2_Missense_Mutation_p.D1342N	NM_020120	NP_064505	Q9NYU2	UGGG1_HUMAN	UDP-glucose ceramide glucosyltransferase-like 1	1366	Glucosyltransferase (By similarity).				'de novo' posttranslational protein folding|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity|unfolded protein binding			ovary(1)	1						TGTACGAACAGATCTGAAAGA	0.428		NaN											0	0	0	1	0	32	94				
SMPD4	55627	broad.mit.edu	37	2	130922009	130922009	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:130922009C>T	uc002tqq.1	-	10	1439	c.919G>A	c.(919-921)GAA>AAA	p.E307K	SMPD4_uc002tqp.1_5'UTR|SMPD4_uc010yzy.1_Missense_Mutation_p.E85K|SMPD4_uc010yzz.1_5'UTR|SMPD4_uc002tqr.1_Missense_Mutation_p.E307K|SMPD4_uc002tqs.1_Missense_Mutation_p.E175K|SMPD4_uc002tqt.1_Missense_Mutation_p.E185K|SMPD4_uc010zaa.1_Missense_Mutation_p.E194K|SMPD4_uc010zab.1_Missense_Mutation_p.E234K|SMPD4_uc010zac.1_Silent_p.L20L|SMPD4_uc010zad.1_Silent_p.L20L	NM_017951	NP_060421	Q9NXE4	NSMA3_HUMAN	sphingomyelin phosphodiesterase 4 isoform 2	268					sphingomyelin catabolic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|trans-Golgi network	metal ion binding|protein binding|sphingomyelin phosphodiesterase activity|sphingomyelin phosphodiesterase D activity				0	Colorectal(110;0.1)				Phosphatidylserine(DB00144)	AGCCACATTTCAACAAAAACC	0.259		NaN											0	0	0	1	0	15	33				
NCKAP5	344148	broad.mit.edu	37	2	133539884	133539884	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:133539884C>T	uc002ttp.2	-	14	4874	c.4500G>A	c.(4498-4500)CAG>CAA	p.Q1500Q	NCKAP5_uc002ttq.2_Intron	NM_207363	NP_997246	O14513	NCKP5_HUMAN	Nck-associated protein 5 isoform 1	1500							protein binding				0						GCCCAGGCTTCTGCTTTGCTT	0.473		NaN											0	0	0	1	0	25	64				
NEB	4703	broad.mit.edu	37	2	152468834	152468834	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:152468834C>G	uc010fnx.2	-	74	11133	c.10942G>C	c.(10942-10944)GAG>CAG	p.E3648Q		NM_004543	NP_004534	P20929	NEBU_HUMAN	nebulin isoform 3	3648	Nebulin 100.				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)		TTCACTTTCTCGACCTCTACA	0.438		NaN											0	0	0	1	0	7	38				
FMNL2	114793	broad.mit.edu	37	2	153399292	153399292	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:153399292C>G	uc002tye.2	+	3	608	c.241C>G	c.(241-243)CAA>GAA	p.Q81E		NM_052905	NP_443137	Q96PY5	FMNL2_HUMAN	formin-like 2	81	GBD/FH3.				actin cytoskeleton organization	cytoplasm	actin binding|Rho GTPase binding			central_nervous_system(2)|ovary(1)	3						TACATACATTCAAAAGCTCAA	0.438		NaN											0	0	0	1	0	10	36				
TANC1	85461	broad.mit.edu	37	2	160050816	160050816	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:160050816G>A	uc002uag.2	+	17	3065	c.2791G>A	c.(2791-2793)GAA>AAA	p.E931K	TANC1_uc010zcm.1_Missense_Mutation_p.E923K|TANC1_uc010fom.1_Missense_Mutation_p.E737K	NM_033394	NP_203752	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and	931						cell junction|postsynaptic density|postsynaptic membrane	binding			ovary(2)|central_nervous_system(1)	3						CTACAGGACAGAAGTGTTAAA	0.517		NaN											0	0	0	1	0	24	87				
TANC1	85461	broad.mit.edu	37	2	160050867	160050867	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:160050867G>A	uc002uag.2	+	17	3116	c.2842G>A	c.(2842-2844)GAG>AAG	p.E948K	TANC1_uc010zcm.1_Missense_Mutation_p.E940K|TANC1_uc010fom.1_Missense_Mutation_p.E754K	NM_033394	NP_203752	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and	948	ANK 2.					cell junction|postsynaptic density|postsynaptic membrane	binding			ovary(2)|central_nervous_system(1)	3						CCTTGGCCACGAGGAAGTTGT	0.557		NaN											0	0	0	1	0	23	75				
MARCH7	64844	broad.mit.edu	37	2	160599728	160599728	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:160599728G>A	uc002uax.2	+	3	432	c.310G>A	c.(310-312)GGG>AGG	p.G104R	MARCH7_uc010foq.2_Missense_Mutation_p.G104R|MARCH7_uc010zcn.1_Missense_Mutation_p.G104R|MARCH7_uc010for.2_Missense_Mutation_p.G66R	NM_022826	NP_073737	Q9H992	MARH7_HUMAN	axotrophin	104	Ser-rich.						ligase activity|zinc ion binding				0						TACCTCAGCTGGGAGAAATGT	0.403		NaN											0	0	0	1	0	25	48				
ITGB6	3694	broad.mit.edu	37	2	161052112	161052112	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:161052112G>A	uc002ubh.2	-	4	377	c.361C>T	c.(361-363)CTG>TTG	p.L121L	ITGB6_uc010fow.1_RNA|ITGB6_uc010fou.2_Silent_p.L121L|ITGB6_uc010zcq.1_Silent_p.L79L|ITGB6_uc010fov.1_Silent_p.L121L	NM_000888	NP_000879	P18564	ITB6_HUMAN	integrin, beta 6 precursor	121	Extracellular (Potential).				cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|multicellular organismal development	integrin complex	receptor activity			ovary(1)|lung(1)|skin(1)	3						TGCACCTGCAGAGTCTGCGCA	0.522		NaN											0	0	0	1	0	16	63				
KCNH7	90134	broad.mit.edu	37	2	163360985	163360985	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:163360985G>A	uc002uch.1	-	6	1308	c.1096C>T	c.(1096-1098)CGA>TGA	p.R366*	KCNH7_uc002uci.2_Nonsense_Mutation_p.R359*	NM_033272	NP_150375	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H,	366	Cytoplasmic (Potential).				regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity			ovary(3)|skin(2)	5					Ibutilide(DB00308)	TTGTGTGTTCGATCTTTAACC	0.373		NaN											0	0	0	1	0	17	63				
SCN3A	6328	broad.mit.edu	37	2	166020150	166020150	+	Silent	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:166020150C>G	uc002ucx.2	-	7	1164	c.672G>C	c.(670-672)CTG>CTC	p.L224L	SCN3A_uc002ucy.2_Silent_p.L224L|SCN3A_uc002ucz.2_Intron|SCN3A_uc002uda.1_Silent_p.L93L|SCN3A_uc002udb.1_Intron	NM_006922	NP_008853	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha	224	Helical; Voltage-sensor; Name=S4 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)	AAATTGTTTTCAGTGCTCGGA	0.403		NaN											0	0	0	1	0	12	22				
TTC21B	79809	broad.mit.edu	37	2	166747063	166747063	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:166747063C>G	uc002udk.2	-	24	3322	c.3189G>C	c.(3187-3189)ATG>ATC	p.M1063I	TTC21B_uc002udj.1_RNA	NM_024753	NP_079029	Q7Z4L5	TT21B_HUMAN	tetratricopeptide repeat domain 21B	1063						cilium axoneme|cytoplasm|cytoskeleton	binding			ovary(2)|pancreas(2)|breast(1)	5						AGATCTCTATCATATTATAAA	0.388		NaN											0	0	0	1	0	14	35				
SCN9A	6335	broad.mit.edu	37	2	167159651	167159651	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:167159651C>T	uc010fpl.2	-	7	1191	c.850G>A	c.(850-852)GAA>AAA	p.E284K	SCN9A_uc002udr.1_Missense_Mutation_p.E155K|SCN9A_uc002uds.1_Missense_Mutation_p.E155K|SCN9A_uc002udt.1_Missense_Mutation_p.E155K	NM_002977	NP_002968	Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha	284	I.					voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(6)|central_nervous_system(5)|skin(2)	13					Lamotrigine(DB00555)|Lidocaine(DB00281)	TCTAATGTTTCATTATTTTCA	0.343		NaN											0	0	0	1	0	6	17				
KLHL23	151230	broad.mit.edu	37	2	170606109	170606109	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:170606109G>T	uc002ufh.1	+	6	1882	c.1544G>T	c.(1543-1545)GGA>GTA	p.G515V	KLHL23_uc002ufi.1_Missense_Mutation_p.G515V|uc002ufj.3_5'Flank	NM_144711	NP_653312	Q8NBE8	KLH23_HUMAN	kelch-like 23	515	Kelch 6.										0						GTCACTGGAGGATACTCCTAC	0.448		NaN											1	0	7.87624e-14	1	8.28229e-14	23	76				
GORASP2	26003	broad.mit.edu	37	2	171806117	171806117	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:171806117C>G	uc002ugk.2	+	3	353	c.213C>G	c.(211-213)ATC>ATG	p.I71M	GORASP2_uc002ugj.2_Missense_Mutation_p.I3M|GORASP2_uc010zdl.1_Missense_Mutation_p.I83M|GORASP2_uc010zdm.1_Missense_Mutation_p.I27M|GORASP2_uc002ugl.2_Missense_Mutation_p.I3M	NM_015530	NP_056345	Q9H8Y8	GORS2_HUMAN	golgi reassembly stacking protein 2	71	PDZ.					Golgi membrane				breast(1)|central_nervous_system(1)	2						AGATGCTTATCTATAGCAGCA	0.438		NaN											0	0	0	1	0	31	93				
HAT1	8520	broad.mit.edu	37	2	172803292	172803292	+	Silent	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:172803292C>G	uc002uhi.2	+	3	253	c.177C>G	c.(175-177)CTC>CTG	p.L59L	HAT1_uc010fqi.2_5'UTR|HAT1_uc002uhj.2_Intron	NM_003642	NP_003633	O14929	HAT1_HUMAN	histone acetyltransferase 1	59					chromatin silencing at telomere|DNA packaging	cytoplasm|nuclear matrix|nucleoplasm	histone acetyltransferase activity|protein binding			large_intestine(1)|ovary(1)	2			OV - Ovarian serous cystadenocarcinoma(117;0.216)			CCCATCAACTCTTTGGGGATG	0.264		NaN											0	0	0	1	0	16	37				
ZAK	51776	broad.mit.edu	37	2	174131031	174131031	+	Silent	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:174131031C>G	uc002uhz.2	+	20	2156	c.1956C>G	c.(1954-1956)CTC>CTG	p.L652L	uc002uib.2_Intron	NM_016653	NP_057737	Q9NYL2	MLTK_HUMAN	MLK-related kinase isoform 1	652					activation of JUN kinase activity|activation of MAPKK activity|cell cycle arrest|cell death|cell differentiation|cell proliferation|DNA damage checkpoint|positive regulation of apoptosis|response to radiation	cytoplasm|nucleus	ATP binding|identical protein binding|magnesium ion binding|MAP kinase kinase kinase activity|protein binding			lung(3)|stomach(1)|ovary(1)|skin(1)	6			OV - Ovarian serous cystadenocarcinoma(117;0.176)			CCCTACATCTCAACTCTAGGG	0.468		NaN											0	0	0	1	0	17	74				
CHN1	1123	broad.mit.edu	37	2	175673765	175673765	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:175673765C>T	uc002uji.2	-	11	1500	c.970G>A	c.(970-972)GAG>AAG	p.E324K	CHN1_uc010zeq.1_Missense_Mutation_p.E298K|CHN1_uc002ujj.2_Missense_Mutation_p.E99K|CHN1_uc002ujg.2_Missense_Mutation_p.E199K	NM_001822	NP_001813	P15882	CHIN_HUMAN	chimerin (chimaerin) 1 isoform a	324	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity			ovary(2)|skin(1)	3			OV - Ovarian serous cystadenocarcinoma(117;0.226)			TCTGCCTTCTCACCATCTTTT	0.318		NaN	T	TAF15	extraskeletal myxoid chondrosarcoma								0	0	0	1	0	9	32				
TTN	7273	broad.mit.edu	37	2	179399910	179399910	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:179399910G>A	uc010zfg.1	-	307	93952	c.93728C>T	c.(93727-93729)TCA>TTA	p.S31243L	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.S24938L|TTN_uc010zfi.1_Missense_Mutation_p.S24871L|TTN_uc010zfj.1_Missense_Mutation_p.S24746L	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	32170							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)			TTCCTTGGTTGAAGAGTGAGA	0.408		NaN											0	0	0	1	0	18	59				
TTN	7273	broad.mit.edu	37	2	179478785	179478785	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:179478785G>A	uc010zfg.1	-	211	41859	c.41635C>T	c.(41635-41637)CAG>TAG	p.Q13879*	uc002ump.1_RNA|TTN_uc010zfh.1_Nonsense_Mutation_p.Q7574*|TTN_uc010zfi.1_Nonsense_Mutation_p.Q7507*|TTN_uc010zfj.1_Nonsense_Mutation_p.Q7382*	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	14806							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)			TTACCAAACTGATATTTGGCT	0.343		NaN											0	0	0	1	0	7	19				
TTN	7273	broad.mit.edu	37	2	179640629	179640629	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:179640629C>T	uc010zfg.1	-	28	6186	c.5962G>A	c.(5962-5964)GAA>AAA	p.E1988K	TTN_uc010zfh.1_Missense_Mutation_p.E1942K|TTN_uc010zfi.1_Missense_Mutation_p.E1942K|TTN_uc010zfj.1_Missense_Mutation_p.E1942K|TTN_uc002unb.2_Missense_Mutation_p.E1988K|uc002unc.1_5'Flank	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	1988							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)			GGCACTTTTTCATGGGTAATT	0.443		NaN											0	0	0	1	0	41	149				
ZNF385B	151126	broad.mit.edu	37	2	180348114	180348114	+	Silent	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:180348114G>C	uc002unn.3	-	6	1159	c.555C>G	c.(553-555)GTC>GTG	p.V185V	ZNF385B_uc002unj.2_Silent_p.V83V|ZNF385B_uc002unk.2_RNA|ZNF385B_uc002unl.2_Silent_p.V82V|ZNF385B_uc002unm.2_Silent_p.V109V	NM_152520	NP_689733	Q569K4	Z385B_HUMAN	zinc finger protein 385B isoform 1	185	Matrin-type 2.					nucleus	nucleic acid binding|zinc ion binding			ovary(1)	1			Epithelial(96;0.174)|OV - Ovarian serous cystadenocarcinoma(117;0.201)			CTAGTGCTTTGACCTTCTTGG	0.458		NaN											0	0	0	1	0	10	66				
STAT1	6772	broad.mit.edu	37	2	191854376	191854376	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:191854376C>T	uc002usj.2	-	12	1450	c.1062G>A	c.(1060-1062)CTG>CTA	p.L354L	STAT1_uc010fse.1_Silent_p.L354L|STAT1_uc002usk.2_Silent_p.L354L|STAT1_uc002usl.2_Silent_p.L356L|STAT1_uc010fsf.1_Silent_p.L166L	NM_007315	NP_009330	P42224	STAT1_HUMAN	signal transducer and activator of transcription	354					activation of caspase activity|I-kappaB kinase/NF-kappaB cascade|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway|tyrosine phosphorylation of STAT protein	cytosol|nucleolus|nucleoplasm	calcium ion binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity|signal transducer activity			lung(3)|breast(3)|central_nervous_system(2)|upper_aerodigestive_tract(1)|ovary(1)	10			OV - Ovarian serous cystadenocarcinoma(117;0.00434)|Epithelial(96;0.0555)|all cancers(119;0.141)		Fludarabine(DB01073)	AATTATAATTCAGCTCTTGCA	0.249		NaN											0	0	0	1	0	4	5				
HECW2	57520	broad.mit.edu	37	2	197157303	197157303	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:197157303C>T	uc002utm.1	-	14	3169	c.2986G>A	c.(2986-2988)GAT>AAT	p.D996N	HECW2_uc002utl.1_Missense_Mutation_p.D640N	NM_020760	NP_065811	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin	996	Interaction with TP73.|WW 2.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity			skin(5)|ovary(5)|lung(4)|pancreas(2)|central_nervous_system(1)|kidney(1)	18						CCCTGGTGATCATGTTTCATT	0.552		NaN											0	0	0	1	0	29	84				
HSPD1	3329	broad.mit.edu	37	2	198353941	198353941	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:198353941G>A	uc002uui.2	-	9	1137	c.1000C>T	c.(1000-1002)CTT>TTT	p.L334F	HSPD1_uc002uuj.2_Missense_Mutation_p.L332F|HSPD1_uc010zgx.1_Missense_Mutation_p.L325F|HSPD1_uc010fsm.2_Missense_Mutation_p.L145F|HSPD1_uc002uuk.2_Missense_Mutation_p.L334F	NM_002156	NP_002147	P10809	CH60_HUMAN	chaperonin	334					'de novo' protein folding|activation of caspase activity|B cell cytokine production|B cell proliferation|chaperone-mediated protein complex assembly|interspecies interaction between organisms|isotype switching to IgG isotypes|MyD88-dependent toll-like receptor signaling pathway|negative regulation of apoptosis|positive regulation of apoptosis|positive regulation of interferon-alpha production|positive regulation of interferon-gamma production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of macrophage activation|positive regulation of T cell activation|positive regulation of T cell mediated immune response to tumor cell|protein maturation|protein refolding|protein stabilization|response to unfolded protein|T cell activation	cell surface|coated pit|coated vesicle|cytosol|early endosome|extracellular space|lipopolysaccharide receptor complex|mitochondrial inner membrane|mitochondrial matrix|stored secretory granule	ATP binding|ATPase activity|cell surface binding|chaperone binding|DNA replication origin binding|lipopolysaccharide binding|p53 binding|single-stranded DNA binding				0			Epithelial(96;0.225)			ACGTCTTCAAGATTCAGGGTC	0.398		NaN											0	0	0	1	0	19	42				
NIF3L1	60491	broad.mit.edu	37	2	201760084	201760084	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:201760084C>T	uc002uwm.2	+	4	788	c.697C>T	c.(697-699)CAG>TAG	p.Q233*	NIF3L1_uc002uwl.2_Nonsense_Mutation_p.Q206*|NIF3L1_uc002uwn.2_Nonsense_Mutation_p.Q206*|NIF3L1_uc002uwo.2_Nonsense_Mutation_p.Q233*|NIF3L1_uc002uwp.2_Nonsense_Mutation_p.Q233*|NIF3L1_uc002uwq.2_Nonsense_Mutation_p.Q233*	NM_001136039	NP_001129511	Q9GZT8	NIF3L_HUMAN	NIF3 NGG1 interacting factor 3-like 1 isoform 1	233					positive regulation of transcription, DNA-dependent		transcription factor binding			skin(1)	1						ACAACTTTATCAGAAGACGGA	0.328		NaN											0	0	0	1	0	17	57				
NIF3L1	60491	broad.mit.edu	37	2	201768234	201768234	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:201768234G>A	uc002uwm.2	+	7	1058	c.967G>A	c.(967-969)GAT>AAT	p.D323N	NIF3L1_uc002uwl.2_Missense_Mutation_p.D296N|NIF3L1_uc002uwn.2_Missense_Mutation_p.D296N|NIF3L1_uc002uwo.2_Missense_Mutation_p.D323N|NIF3L1_uc002uwp.2_Missense_Mutation_p.D323N|NIF3L1_uc002uwq.2_Missense_Mutation_p.M276I	NM_001136039	NP_001129511	Q9GZT8	NIF3L_HUMAN	NIF3 NGG1 interacting factor 3-like 1 isoform 1	323					positive regulation of transcription, DNA-dependent		transcription factor binding			skin(1)	1						GTCCCATCATGATACTTTGGA	0.408		NaN											0	0	0	1	0	23	68				
CASP8	841	broad.mit.edu	37	2	202139648	202139648	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:202139648C>G	uc002uxr.1	+	7	841	c.632C>G	c.(631-633)TCT>TGT	p.S211C	CASP8_uc002uxo.1_Intron|CASP8_uc002uxp.1_Missense_Mutation_p.S228C|CASP8_uc002uxq.1_Missense_Mutation_p.S196C|CASP8_uc002uxt.1_Missense_Mutation_p.S270C|CASP8_uc002uxu.1_RNA|CASP8_uc002uxv.1_Missense_Mutation_p.S196C|CASP8_uc002uxw.1_Missense_Mutation_p.S196C|CASP8_uc002uxy.1_Missense_Mutation_p.S211C|CASP8_uc002uxx.1_Missense_Mutation_p.S196C|CASP8_uc010ftf.2_Intron|CASP8_uc010fte.1_Intron	NM_033355	NP_203519	Q14790	CASP8_HUMAN	caspase 8 isoform B precursor	211					activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor	centrosome|cytosol|mitochondrial outer membrane	cysteine-type endopeptidase activity|protein binding|protein binding			upper_aerodigestive_tract(2)|ovary(1)|breast(1)|skin(1)	5						ATCTCGGACTCTCCAAGAGAA	0.388		NaN								HNSCC(4;0.00038)			0	0	0	1	0	11	27				
ALS2CR11	151254	broad.mit.edu	37	2	202430471	202430471	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:202430471G>C	uc002uye.2	-	9	1006	c.958C>G	c.(958-960)CAG>GAG	p.Q320E	ALS2CR11_uc002uyf.2_Missense_Mutation_p.Q320E|ALS2CR11_uc010fti.2_Missense_Mutation_p.Q320E	NM_152525	NP_689738	Q53TS8	AL2SA_HUMAN	amyotrophic lateral sclerosis 2 (juvenile)	320										large_intestine(1)|ovary(1)|skin(1)	3						GGTTGTTGCTGAAGTTTTTCA	0.358		NaN											0	0	0	1	0	4	12				
ALS2CR8	79800	broad.mit.edu	37	2	203847053	203847053	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:203847053G>C	uc002uzo.2	+	15	2228	c.1948G>C	c.(1948-1950)GAA>CAA	p.E650Q	ALS2CR8_uc010zia.1_Missense_Mutation_p.E574Q|ALS2CR8_uc010zib.1_Missense_Mutation_p.E574Q|ALS2CR8_uc010zic.1_Missense_Mutation_p.E562Q|ALS2CR8_uc002uzp.2_Missense_Mutation_p.E650Q	NM_001104586	NP_001098056	Q8N187	AL2S8_HUMAN	amyotrophic lateral sclerosis 2 (juvenile)	650										large_intestine(1)|ovary(1)	2						CGAGCTGGTAGAAGTTGGAGA	0.428		NaN											0	0	0	1	0	10	42				
NBEAL1	65065	broad.mit.edu	37	2	204002904	204002904	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:204002904G>C	uc002uzt.3	+	29	4831	c.4498G>C	c.(4498-4500)GAA>CAA	p.E1500Q	NBEAL1_uc002uzs.3_Missense_Mutation_p.E210Q	NM_001114132	NP_001107604	Q6ZS30	NBEL1_HUMAN	neurobeachin-like 1 isoform 3	1500							binding			ovary(1)|skin(1)	2						AAAGATGTTAGAATGGGCAAT	0.358		NaN											0	0	0	1	0	12	32				
RAPH1	65059	broad.mit.edu	37	2	204354725	204354725	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:204354725G>A	uc002vad.2	-	4	539	c.314C>T	c.(313-315)TCA>TTA	p.S105L	RAPH1_uc002vae.2_Missense_Mutation_p.S105L|RAPH1_uc002vaf.2_Missense_Mutation_p.S105L	NM_213589	NP_998754	Q70E73	RAPH1_HUMAN	Ras association and pleckstrin homology domains	105					cell-matrix adhesion|signal transduction	cytoplasm|cytoskeleton|filopodium|lamellipodium|nucleus|plasma membrane				ovary(3)|breast(3)|central_nervous_system(2)|lung(1)|skin(1)	10						ACTGTTTCCTGAACCAATGCT	0.443		NaN											0	0	0	1	0	32	120				
RAPH1	65059	broad.mit.edu	37	2	204354805	204354805	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:204354805C>T	uc002vad.2	-	4	459	c.234G>A	c.(232-234)CTG>CTA	p.L78L	RAPH1_uc002vae.2_Silent_p.L78L|RAPH1_uc002vaf.2_Silent_p.L78L	NM_213589	NP_998754	Q70E73	RAPH1_HUMAN	Ras association and pleckstrin homology domains	78					cell-matrix adhesion|signal transduction	cytoplasm|cytoskeleton|filopodium|lamellipodium|nucleus|plasma membrane				ovary(3)|breast(3)|central_nervous_system(2)|lung(1)|skin(1)	10						CTCCCTGATTCAGAGCTTCTG	0.378		NaN											0	0	0	1	0	17	87				
PARD3B	117583	broad.mit.edu	37	2	206166207	206166207	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:206166207C>T	uc002var.1	+	18	2619	c.2412C>T	c.(2410-2412)AGC>AGT	p.S804S	PARD3B_uc010fub.1_Silent_p.S804S|PARD3B_uc002vao.1_Silent_p.S804S|PARD3B_uc002vap.1_Silent_p.S742S|PARD3B_uc002vaq.1_Silent_p.S735S	NM_152526	NP_689739	Q8TEW8	PAR3L_HUMAN	par-3 partitioning defective 3 homolog B isoform	804					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)		CTGATAAGAGCTCTCACTCTG	0.438		NaN											0	0	0	1	0	31	82				
INO80D	54891	broad.mit.edu	37	2	206882459	206882459	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:206882459G>A	uc002vaz.3	-	8	1892	c.1487C>T	c.(1486-1488)CCA>CTA	p.P496L		NM_017759	NP_060229	Q53TQ3	IN80D_HUMAN	INO80 complex subunit D	496					DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				ovary(1)	1						GTCAAAAACTGGCACAGAGCA	0.363		NaN											0	0	0	1	0	11	32				
ZDBF2	57683	broad.mit.edu	37	2	207169625	207169625	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:207169625C>G	uc002vbp.2	+	5	623	c.373C>G	c.(373-375)CAG>GAG	p.Q125E		NM_020923	NP_065974	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	125							nucleic acid binding|zinc ion binding			ovary(3)	3						TCATAAATCTCAGGAAGGCAC	0.468		NaN											0	0	0	1	0	9	27				
DYTN	391475	broad.mit.edu	37	2	207559580	207559580	+	Silent	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:207559580G>C	uc002vbr.1	-	8	858	c.741C>G	c.(739-741)CTC>CTG	p.L247L		NM_001093730	NP_001087199	A2CJ06	DYTN_HUMAN	dystrotelin	247	ZZ-type.					plasma membrane	zinc ion binding			ovary(1)|central_nervous_system(1)	2				LUSC - Lung squamous cell carcinoma(261;0.082)|Epithelial(149;0.129)|Lung(261;0.153)		TGTCAAAGTTGAGACACTTCA	0.393		NaN											0	0	0	1	0	18	47				
PIKFYVE	200576	broad.mit.edu	37	2	209203277	209203277	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:209203277C>T	uc002vcz.2	+	29	4815	c.4657C>T	c.(4657-4659)CAG>TAG	p.Q1553*		NM_015040	NP_055855	Q9Y2I7	FYV1_HUMAN	phosphatidylinositol-3-phosphate 5-kinase type	1553					cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi	early endosome membrane|membrane raft	1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding			ovary(5)|kidney(2)|pancreas(1)|central_nervous_system(1)|skin(1)	10						TCCAGGACTTCAGAATGGAGA	0.348		NaN											0	0	0	1	0	8	35				
CPS1	1373	broad.mit.edu	37	2	211476905	211476905	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:211476905C>G	uc002vee.3	+	20	2588	c.2456C>G	c.(2455-2457)TCT>TGT	p.S819C	CPS1_uc010fur.2_Missense_Mutation_p.S825C|CPS1_uc010fus.2_Missense_Mutation_p.S368C	NM_001875	NP_001866	P31327	CPSM_HUMAN	carbamoyl-phosphate synthetase 1 isoform b	819					carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity			ovary(8)|central_nervous_system(3)|breast(1)|skin(1)	13				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)		TGCCACCCATCTATAGAAGGT	0.413		NaN											0	0	0	1	0	34	89				
CPS1	1373	broad.mit.edu	37	2	211513244	211513244	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:211513244G>C	uc002vee.3	+	27	3516	c.3384G>C	c.(3382-3384)TTG>TTC	p.L1128F	CPS1_uc010fur.2_Missense_Mutation_p.L1134F|CPS1_uc010fus.2_Missense_Mutation_p.L677F	NM_001875	NP_001866	P31327	CPSM_HUMAN	carbamoyl-phosphate synthetase 1 isoform b	1128	ATP-grasp 2.				carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity			ovary(8)|central_nervous_system(3)|breast(1)|skin(1)	13				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)		CCTGCTTGTTGAGGCCTTCCT	0.333		NaN											0	0	0	1	0	21	79				
ABCA12	26154	broad.mit.edu	37	2	215875150	215875150	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:215875150C>G	uc002vew.2	-	18	2597	c.2377G>C	c.(2377-2379)GCT>CCT	p.A793P	ABCA12_uc002vev.2_Missense_Mutation_p.A475P|ABCA12_uc010zjn.1_5'UTR	NM_173076	NP_775099	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A, member 12	793					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			ovary(6)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1)	11		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		ACAGGTCCAGCGGGCATGTTA	0.373		NaN											0	0	0	1	0	10	27				
TNS1	7145	broad.mit.edu	37	2	218674590	218674590	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:218674590G>C	uc002vgt.2	-	30	5315	c.4917C>G	c.(4915-4917)TTC>TTG	p.F1639L	TNS1_uc002vgr.2_Missense_Mutation_p.F1625L|TNS1_uc002vgs.2_Missense_Mutation_p.F1618L|TNS1_uc002vgq.2_Missense_Mutation_p.F139L	NM_022648	NP_072174	Q9HBL0	TENS1_HUMAN	tensin	1639						cytoplasm|cytoskeleton|focal adhesion	actin binding			ovary(3)|breast(1)	4		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		CAGAGACTTTGAAGTGAACGA	0.552		NaN											0	0	0	1	0	13	43				
ARPC2	10109	broad.mit.edu	37	2	219114098	219114098	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:219114098C>T	uc002vhd.2	+	9	800	c.688C>T	c.(688-690)CGT>TGT	p.R230C	ARPC2_uc002vhe.2_Missense_Mutation_p.R230C|ARPC2_uc002vhf.2_Missense_Mutation_p.R116C	NM_152862	NP_690601	O15144	ARPC2_HUMAN	actin related protein 2/3 complex subunit 2	230					cellular component movement	Arp2/3 protein complex|cell projection|Golgi apparatus	actin binding|structural constituent of cytoskeleton			ovary(1)	1		Renal(207;0.0474)		Epithelial(149;1.21e-06)|all cancers(144;0.000212)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0103)		GCTGTTCCCTCGTCACACCAA	0.542		NaN											0	0	0	1	0	11	31				
NHEJ1	79840	broad.mit.edu	37	2	220022967	220022967	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:220022967C>T	uc002vjp.3	-	2	264	c.118G>A	c.(118-120)GAT>AAT	p.D40N	NHEJ1_uc002vjq.3_RNA	NM_024782	NP_079058	Q9H9Q4	NHEJ1_HUMAN	nonhomologous end-joining factor 1	40					B cell differentiation|central nervous system development|DNA recombination|double-strand break repair via nonhomologous end joining|positive regulation of ligase activity|response to ionizing radiation|T cell differentiation	nonhomologous end joining complex|nucleus	DNA binding|identical protein binding			lung(1)	1		Renal(207;0.0915)		Epithelial(149;2.15e-06)|all cancers(144;0.000339)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(261;0.0112)		TGTTGAAGATCTGAAACCAAC	0.527		NaN						Direct_reversal_of_damage|NHEJ					0	0	0	1	0	31	121				
SLC23A3	151295	broad.mit.edu	37	2	220032963	220032963	+	Nonsense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:220032963G>C	uc010zks.1	-	6	863	c.752C>G	c.(751-753)TCA>TGA	p.S251*	NHEJ1_uc002vjq.3_RNA|SLC23A3_uc010zkr.1_Nonsense_Mutation_p.S259*|SLC23A3_uc010fwb.2_Missense_Mutation_p.Q241E|SLC23A3_uc002vjs.1_Missense_Mutation_p.F103L|SLC23A3_uc002vjt.1_Missense_Mutation_p.F110L	NM_001144889	NP_001138361	Q6PIS1	S23A3_HUMAN	solute carrier family 23 (nucleobase	251	Extracellular (Potential).				transmembrane transport	integral to membrane	protein binding|transporter activity				0		Renal(207;0.0474)		Epithelial(149;9.27e-07)|all cancers(144;0.000156)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TGATGACGTTGAAGCTCGCCT	0.577		NaN											0	0	0	1	0	11	32				
FAM134A	79137	broad.mit.edu	37	2	220046485	220046485	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:220046485G>A	uc002vjw.3	+	8	1139	c.1003G>A	c.(1003-1005)GAT>AAT	p.D335N	FAM134A_uc010fwc.2_Missense_Mutation_p.D128N|FAM134A_uc002vjx.2_Missense_Mutation_p.D128N	NM_024293	NP_077269	Q8NC44	F134A_HUMAN	hypothetical protein LOC79137	335						endoplasmic reticulum|integral to membrane				ovary(1)|central_nervous_system(1)	2		Renal(207;0.0915)		Epithelial(149;8.92e-07)|all cancers(144;0.000151)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GCAGCTGACTGATGTCTCCGA	0.577		NaN											0	0	0	1	0	21	88				
ATG9A	79065	broad.mit.edu	37	2	220085587	220085587	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:220085587G>C	uc002vke.1	-	15	2582	c.2396C>G	c.(2395-2397)TCT>TGT	p.S799C	ABCB6_uc002vkc.1_5'Flank|ABCB6_uc010fwe.1_5'Flank|ABCB6_uc010zku.1_5'Flank|ATG9A_uc002vkd.1_RNA|ATG9A_uc002vkf.1_Missense_Mutation_p.S799C	NM_001077198	NP_001070666	Q7Z3C6	ATG9A_HUMAN	APG9 autophagy 9-like 1	799	Cytoplasmic (By similarity).				autophagic vacuole assembly|protein transport	autophagic vacuole membrane|cytoplasmic vesicle|Golgi apparatus|integral to membrane|late endosome membrane				skin(1)	1		Renal(207;0.0474)		Epithelial(149;1.37e-06)|all cancers(144;0.000222)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGAGAAATGAGAGGGAACCCT	0.577		NaN											0	0	0	1	0	19	64				
STK11IP	114790	broad.mit.edu	37	2	220474164	220474164	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:220474164G>A	uc002vml.2	+	17	2082	c.2039G>A	c.(2038-2040)AGA>AAA	p.R680K	STK11IP_uc010zll.1_3'UTR|STK11IP_uc002vmm.1_Missense_Mutation_p.R669K	NM_052902	NP_443134	Q8N1F8	S11IP_HUMAN	LKB1 interacting protein	680					protein localization	cytoplasm	protein kinase binding			ovary(1)	1		Renal(207;0.0183)		Epithelial(149;2.69e-07)|all cancers(144;5.91e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CTGCTGGGTAGATTCCAGTGT	0.582		NaN											0	0	0	1	0	5	20				
SLC4A3	6508	broad.mit.edu	37	2	220502408	220502408	+	Missense_Mutation	SNP	G	G	A	rs140581019	byFrequency	TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:220502408G>A	uc002vmp.3	+	17	2910	c.2641G>A	c.(2641-2643)GAG>AAG	p.E881K	SLC4A3_uc002vmo.3_Missense_Mutation_p.E908K|SLC4A3_uc010fwm.2_Missense_Mutation_p.E431K|SLC4A3_uc010fwn.1_Missense_Mutation_p.E390K	NM_005070	NP_005061	P48751	B3A3_HUMAN	solute carrier family 4, anion exchanger, member	881	Membrane (anion exchange).				bicarbonate transport	integral to plasma membrane|membrane fraction	inorganic anion exchanger activity			ovary(2)|upper_aerodigestive_tract(1)|breast(1)|skin(1)	5		Renal(207;0.0183)		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GCCCCCCACCGAGGGCCCCCC	0.647		NaN											0	0	0	1	0	23	77				
CCDC140	151278	broad.mit.edu	37	2	223169063	223169063	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:223169063G>A	uc002vnb.1	+	2	826	c.442G>A	c.(442-444)GAG>AAG	p.E148K		NM_153038	NP_694583	Q96MF4	CC140_HUMAN	coiled-coil domain containing 140	148	Potential.										0		Renal(207;0.0376)		Epithelial(121;4.03e-10)|all cancers(144;1.8e-07)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		aaagaagaaagagagaaagag	0.403		NaN											0	0	0	1	0	5	26				
DOCK10	55619	broad.mit.edu	37	2	225666692	225666692	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:225666692C>T	uc010fwz.1	-	40	4573	c.4334G>A	c.(4333-4335)CGA>CAA	p.R1445Q	DOCK10_uc002vob.2_Missense_Mutation_p.R1439Q|DOCK10_uc002voa.2_Missense_Mutation_p.R101Q|DOCK10_uc002voc.2_Missense_Mutation_p.R299Q	NM_014689	NP_055504	Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	1445							GTP binding			ovary(2)	2		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		ATTTTTGCCTCGAATTATAGG	0.368		NaN											0	0	0	1	0	17	62				
COL4A4	1286	broad.mit.edu	37	2	227898175	227898175	+	Silent	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:227898175C>G	uc010zlt.1	-	38	4182	c.3528G>C	c.(3526-3528)CTG>CTC	p.L1176L		NM_000092	NP_000083	P53420	CO4A4_HUMAN	alpha 4 type IV collagen precursor	1176	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			ovary(5)|central_nervous_system(3)|pancreas(1)|breast(1)|skin(1)	11		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		GCAAGCCGTTCAGGCCAGGTG	0.522		NaN									OREG0015250	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	1	0	15	48				
TRIP12	9320	broad.mit.edu	37	2	230723619	230723619	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:230723619G>A	uc002vpw.1	-	3	879	c.770C>T	c.(769-771)TCT>TTT	p.S257F	TRIP12_uc002vpx.1_Missense_Mutation_p.S299F|TRIP12_uc002vpy.1_Intron|TRIP12_uc010zlz.1_RNA|TRIP12_uc010fxh.1_Missense_Mutation_p.S257F	NM_004238	NP_004229	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	257					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity			ovary(4)|lung(2)|breast(1)|central_nervous_system(1)|skin(1)	9		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		AAATTTTGAAGAGCCACCAGT	0.473		NaN											0	0	0	1	0	21	67				
SP100	6672	broad.mit.edu	37	2	231379918	231379918	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:231379918G>A	uc002vqt.2	+	25	2344	c.2203G>A	c.(2203-2205)GAA>AAA	p.E735K	SP100_uc002vqu.1_Intron|SP100_uc010fxp.1_Intron	NM_003113	NP_003104	P23497	SP100_HUMAN	nuclear antigen Sp100 isoform 2	735	HMG box 1.				DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|interspecies interaction between organisms|negative regulation of cellular component movement|negative regulation of DNA binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of transcription, DNA-dependent|negative regulation of viral transcription|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|response to cytokine stimulus|response to retinoic acid|response to type I interferon	cytoplasm|nuclear periphery|nucleolus|PML body	chromo shadow domain binding|DNA binding|identical protein binding|kinase binding|protein homodimerization activity|transcription coactivator activity|transcription corepressor activity|transcription factor binding			ovary(4)|central_nervous_system(1)	5		Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		AGGAAAATTTGAAGATATGGC	0.388		NaN											0	0	0	1	0	23	73				
ARMC9	80210	broad.mit.edu	37	2	232100023	232100023	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:232100023G>A	uc002vrq.3	+	8	821	c.709G>A	c.(709-711)GAC>AAC	p.D237N	ARMC9_uc002vrp.3_Missense_Mutation_p.D237N	NM_025139	NP_079415	Q7Z3E5	ARMC9_HUMAN	armadillo repeat containing 9	237							binding			ovary(1)	1		Renal(207;0.0112)|all_lung(227;0.0744)|all_hematologic(139;0.0749)|Acute lymphoblastic leukemia(138;0.167)|Medulloblastoma(418;0.184)|Lung NSC(271;0.205)		Epithelial(121;1.43e-10)|LUSC - Lung squamous cell carcinoma(224;0.017)|Lung(119;0.0189)		GATCCAGGCCGACTACCACAA	0.488		NaN											0	0	0	1	0	11	40				
ARMC9	80210	broad.mit.edu	37	2	232143143	232143143	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:232143143C>A	uc002vrq.3	+	16	1635	c.1523C>A	c.(1522-1524)TCG>TAG	p.S508*	ARMC9_uc002vrp.3_Nonsense_Mutation_p.S508*|ARMC9_uc002vrr.1_RNA	NM_025139	NP_079415	Q7Z3E5	ARMC9_HUMAN	armadillo repeat containing 9	508							binding			ovary(1)	1		Renal(207;0.0112)|all_lung(227;0.0744)|all_hematologic(139;0.0749)|Acute lymphoblastic leukemia(138;0.167)|Medulloblastoma(418;0.184)|Lung NSC(271;0.205)		Epithelial(121;1.43e-10)|LUSC - Lung squamous cell carcinoma(224;0.017)|Lung(119;0.0189)		AAAGTCCTTTCGGATCTTCTT	0.507		NaN											1	0	2.95478e-19	1	3.13632e-19	40	106				
DGKD	8527	broad.mit.edu	37	2	234343511	234343511	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:234343511C>G	uc002vui.1	+	5	562	c.550C>G	c.(550-552)CTG>GTG	p.L184V	DGKD_uc002vuj.1_Missense_Mutation_p.L140V|DGKD_uc010fyh.1_Missense_Mutation_p.L51V|DGKD_uc002vuk.1_Missense_Mutation_p.L51V	NM_152879	NP_690618	Q16760	DGKD_HUMAN	diacylglycerol kinase, delta 130kDa isoform 2	184	Phorbol-ester/DAG-type 1.				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)	CCGTGAGGCTCTGTCTGGGGT	0.567		NaN											0	0	0	1	0	48	163				
UGT1A5	54579	broad.mit.edu	37	2	234621763	234621763	+	Silent	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:234621763C>G	uc002vuw.2	+	1	126	c.126C>G	c.(124-126)CTC>CTG	p.L42L	UGT1A8_uc010zmv.1_Intron|UGT1A8_uc002vup.2_Intron|UGT1A10_uc002vuq.3_Intron|UGT1A10_uc002vur.2_Intron|UGT1A9_uc010zmw.1_Intron|UGT1A9_uc002vus.2_Intron|UGT1A7_uc010zmx.1_Intron|UGT1A7_uc002vut.2_Intron|UGT1A6_uc002vuu.2_Intron|UGT1A6_uc010zmy.1_Intron|UGT1A6_uc002vuv.3_Intron|UGT1A5_uc010zmz.1_Silent_p.L42L	NM_019078	NP_061951	P35504	UD15_HUMAN	UDP glycosyltransferase 1 family, polypeptide A5	42					xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			skin(1)	1		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)		Epithelial(121;4.51e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000523)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.00645)		GCCACTGGCTCAGCATGCGGG	0.602		NaN											0	0	0	1	0	17	72				
ARL4C	10123	broad.mit.edu	37	2	235404739	235404739	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:235404739G>A	uc002vvn.2	-	1	955	c.492C>T	c.(490-492)ATC>ATT	p.I164I	ARL4C_uc002vvm.3_Silent_p.I164I	NM_005737	NP_005728	P56559	ARL4C_HUMAN	ADP-ribosylation factor-like 4C	164					endocytic recycling|small GTPase mediated signal transduction	cytoplasm|filopodium|nucleus|plasma membrane	alpha-tubulin binding|GTP binding|GTPase activity			skin(1)	1		Breast(86;0.000596)|Renal(207;0.00339)|all_lung(227;0.00354)|all_hematologic(139;0.0494)|Lung NSC(271;0.0496)|Lung SC(224;0.164)|all_neural(83;0.173)		Epithelial(121;2.6e-19)|BRCA - Breast invasive adenocarcinoma(100;0.000296)|Lung(119;0.002)|LUSC - Lung squamous cell carcinoma(224;0.0048)		GGCCCTCGCCGATGATGGCGC	0.617		NaN											0	0	0	1	0	18	57				
SH3BP4	23677	broad.mit.edu	37	2	235962340	235962340	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:235962340G>A	uc002vvp.2	+	6	3165	c.2772G>A	c.(2770-2772)ATG>ATA	p.M924I	SH3BP4_uc010fym.2_Missense_Mutation_p.M906I|SH3BP4_uc002vvq.2_Missense_Mutation_p.M924I	NM_014521	NP_055336	Q9P0V3	SH3B4_HUMAN	SH3-domain binding protein 4	924					endocytosis	clathrin-coated vesicle|coated pit|nucleus	protein binding			skin(3)|ovary(1)	4		Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419)		Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237)		TGGACAAGATGAAAAACCCCA	0.582		NaN											0	0	0	1	0	49	153				
OR6B3	150681	broad.mit.edu	37	2	240984886	240984886	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:240984886G>C	uc010zoe.1	-	1	604	c.604C>G	c.(604-606)CTG>GTG	p.L202V	PRR21_uc010zod.1_5'Flank	NM_173351	NP_775486	Q8NGW1	OR6B3_HUMAN	olfactory receptor, family 6, subfamily B,	202	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0		all_epithelial(40;1.64e-11)|Breast(86;0.000327)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238)		Epithelial(121;1.05e-29)|all cancers(36;3.52e-28)|OV - Ovarian serous cystadenocarcinoma(60;4.63e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.56e-05)|Lung(119;0.00344)|LUSC - Lung squamous cell carcinoma(224;0.0148)|Colorectal(34;0.019)|COAD - Colon adenocarcinoma(134;0.141)		ATGAAGGCCAGAATGAAATCC	0.577		NaN											0	0	0	1	0	15	71				
ATG4B	23192	broad.mit.edu	37	2	242594013	242594013	+	Silent	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:242594013C>G	uc002wbv.2	+	5	439	c.336C>G	c.(334-336)CTC>CTG	p.L112L	ATG4B_uc002wbu.2_Silent_p.L38L|ATG4B_uc002wbw.2_Silent_p.L112L|ATG4B_uc010zox.1_Silent_p.L98L|ATG4B_uc010zoy.1_Silent_p.L38L|ATG4B_uc010fzp.2_Silent_p.L112L|ATG4B_uc010zoz.1_Silent_p.L38L	NM_013325	NP_037457	Q9Y4P1	ATG4B_HUMAN	APG4 autophagy 4 homolog B isoform a	112					autophagic vacuole assembly|protein transport|proteolysis	cytoplasm	cysteine-type peptidase activity|protein binding				0		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;2.44e-33)|all cancers(36;5.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.75e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0848)		TCAGCGTCCTCAACGCATTCA	0.502		NaN											0	0	0	1	0	5	10				
UBOX5	22888	broad.mit.edu	37	20	3102035	3102035	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr20:3102035G>A	uc002whw.2	-	3	1420	c.1250C>T	c.(1249-1251)TCG>TTG	p.S417L	uc002whv.1_Intron|UBOX5_uc002whx.2_Missense_Mutation_p.S417L|UBOX5_uc002why.1_Missense_Mutation_p.S417L	NM_014948	NP_055763	O94941	RNF37_HUMAN	U-box domain containing 5 isoform a	417						nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding			ovary(1)|skin(1)	2						ATTACCTGTCGAGCAGTCCAT	0.527		NaN											0	0	0	1	0	12	55				
CENPB	1059	broad.mit.edu	37	20	3765738	3765738	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr20:3765738C>T	uc002wjk.2	-	1	1600	c.1393G>A	c.(1393-1395)GAG>AAG	p.E465K	CDC25B_uc010zqk.1_5'Flank|CDC25B_uc010zql.1_5'Flank|CDC25B_uc010zqm.1_5'Flank	NM_001810	NP_001801	P07199	CENPB_HUMAN	centromere protein B	465	Glu-rich (acidic).				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	chromatin binding|satellite DNA binding				0						GAGGAGCTCTCCTCATCTTCC	0.418		NaN											0	0	0	1	0	17	59				
TMX4	56255	broad.mit.edu	37	20	7964486	7964486	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr20:7964486C>G	uc002wmx.1	-	7	767	c.634G>C	c.(634-636)GAA>CAA	p.E212Q		NM_021156	NP_066979	Q9H1E5	TMX4_HUMAN	thioredoxin-related transmembrane protein 4	212					cell redox homeostasis|electron transport chain|transport	integral to membrane					0						TAGAAACATTCTGATATTACC	0.388		NaN											0	0	0	1	0	12	43				
NKX2-2	4821	broad.mit.edu	37	20	21492922	21492922	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr20:21492922G>T	uc002wsi.2	-	2	818	c.461C>A	c.(460-462)TCG>TAG	p.S154*		NM_002509	NP_002500	O95096	NKX22_HUMAN	NK2 transcription factor related, locus 2	154	Homeobox.				brain development|positive regulation of sequence-specific DNA binding transcription factor activity	nucleus	chromatin binding|core promoter proximal region DNA binding|transcription coactivator activity			pancreas(1)|skin(1)	2						CTCGGGCGCCGACAGGTACCG	0.672		NaN											1	0	1.12685e-05	1	1.14925e-05	9	33				
FOXA2	3170	broad.mit.edu	37	20	22562719	22562719	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr20:22562719G>A	uc002wsn.2	-	3	1333	c.1143C>T	c.(1141-1143)CTC>CTT	p.L381L	FOXA2_uc002wsm.2_Silent_p.L387L	NM_153675	NP_710141	Q9Y261	FOXA2_HUMAN	forkhead box A2 isoform 2	381	Transactivation domain 2 (By similarity).				cell differentiation in hindbrain|central nervous system myelin formation|chromatin modification|dorsal/ventral neural tube patterning|ectoderm formation|endocrine pancreas development|endoderm development|epithelial tube branching involved in lung morphogenesis|in utero embryonic development|lung epithelial cell differentiation|negative regulation of neuron differentiation|neuron fate specification|oligodendrocyte cell fate commitment|positive regulation of embryonic development|positive regulation of gastrulation|positive regulation of neuron differentiation|primitive streak formation|regulation of blood coagulation|regulation of sequence-specific DNA binding transcription factor activity|response to interleukin-6	cytoplasm|transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			ovary(2)|kidney(1)|central_nervous_system(1)	4	Lung NSC(19;0.188)					CCGAGGACATGAGGTTGTTGA	0.552		NaN											0	0	0	1	0	13	33				
ASXL1	171023	broad.mit.edu	37	20	31022245	31022245	+	Nonsense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr20:31022245C>G	uc002wxs.2	+	12	2156	c.1730C>G	c.(1729-1731)TCA>TGA	p.S577*	ASXL1_uc010geb.2_Nonsense_Mutation_p.S468*	NM_015338	NP_056153	Q8IXJ9	ASXL1_HUMAN	additional sex combs like 1 isoform 1	577					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PR-DUB complex	metal ion binding|protein binding			haematopoietic_and_lymphoid_tissue(239)|large_intestine(6)|central_nervous_system(2)|ovary(1)	248						ATTCAACTTTCACGTATCAAA	0.473		NaN	F|N|Mis		MDS|CMML								0	0	0	1	0	18	103				
GGT7	2686	broad.mit.edu	37	20	33439105	33439105	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr20:33439105C>T	uc002xay.2	-	13	1697	c.1654G>A	c.(1654-1656)GAG>AAG	p.E552K	GGT7_uc010gex.2_RNA|GGT7_uc002xaz.1_Missense_Mutation_p.E569K	NM_178026	NP_821158	Q9UJ14	GGT7_HUMAN	gamma-glutamyltransferase 7	552	Extracellular (Potential).				glutathione biosynthetic process	integral to membrane	acyltransferase activity|gamma-glutamyltransferase activity			ovary(1)	1						CAGAGCCCCTCCGCGGGTCGG	0.622		NaN											0	0	0	1	0	28	67				
GGT7	2686	broad.mit.edu	37	20	33440073	33440073	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr20:33440073G>A	uc002xay.2	-	12	1515	c.1472C>T	c.(1471-1473)TCC>TTC	p.S491F	GGT7_uc010gex.2_5'Flank|GGT7_uc002xaz.1_Missense_Mutation_p.S508F	NM_178026	NP_821158	Q9UJ14	GGT7_HUMAN	gamma-glutamyltransferase 7	491	Extracellular (Potential).				glutathione biosynthetic process	integral to membrane	acyltransferase activity|gamma-glutamyltransferase activity			ovary(1)	1						CTGGTTCAGGGAGCTGGGGGC	0.637		NaN											0	0	0	1	0	18	46				
FAM83C	128876	broad.mit.edu	37	20	33874440	33874440	+	Silent	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr20:33874440G>C	uc010zux.1	-	4	2260	c.2142C>G	c.(2140-2142)GTC>GTG	p.V714V	EIF6_uc002xbv.1_5'Flank|EIF6_uc002xbx.1_5'Flank|EIF6_uc002xbz.1_5'Flank|EIF6_uc002xby.1_5'Flank|FAM83C_uc002xcb.1_Silent_p.V369V	NM_178468	NP_848563	Q9BQN1	FA83C_HUMAN	hypothetical protein LOC128876	714										ovary(2)	2			BRCA - Breast invasive adenocarcinoma(18;0.00252)			TCTCATCCCTGACCAGGTCAC	0.552		NaN											0	0	0	1	0	39	102				
CEP250	11190	broad.mit.edu	37	20	34065849	34065849	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr20:34065849G>T	uc002xcm.2	+	18	2688	c.2017G>T	c.(2017-2019)GAG>TAG	p.E673*	CEP250_uc010zve.1_Nonsense_Mutation_p.E41*|CEP250_uc010zvd.1_RNA	NM_007186	NP_009117	Q9BV73	CP250_HUMAN	centrosomal protein 2	673	Gln/Glu-rich.|Potential.				centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion	centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex	protein C-terminus binding|protein kinase binding			ovary(4)|central_nervous_system(1)	5	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			GAAAGCTGAGGAGGCTGGGGC	0.527		NaN											1	0	0.000602214	1	0.000609414	5	33				
CEP250	11190	broad.mit.edu	37	20	34065861	34065861	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr20:34065861G>C	uc002xcm.2	+	18	2700	c.2029G>C	c.(2029-2031)GAG>CAG	p.E677Q	CEP250_uc010zve.1_Missense_Mutation_p.E45Q|CEP250_uc010zvd.1_RNA	NM_007186	NP_009117	Q9BV73	CP250_HUMAN	centrosomal protein 2	677	Gln/Glu-rich.|Potential.				centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion	centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex	protein C-terminus binding|protein kinase binding			ovary(4)|central_nervous_system(1)	5	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			GGCTGGGGCTGAGCTGCAGGC	0.532		NaN											0	0	0	1	0	5	40				
NFS1	9054	broad.mit.edu	37	20	34261595	34261595	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr20:34261595G>C	uc002xdw.1	-	11	1212	c.1148C>G	c.(1147-1149)TCT>TGT	p.S383C	CPNE1_uc002xdn.1_Intron|CPNE1_uc002xdo.1_RNA|CPNE1_uc002xdp.1_RNA|NFS1_uc002xdt.1_Missense_Mutation_p.S323C|NFS1_uc002xdu.1_Missense_Mutation_p.S323C|NFS1_uc002xdv.1_RNA|NFS1_uc010zvk.1_Missense_Mutation_p.S181C|NFS1_uc010zvl.1_Missense_Mutation_p.S332C	NM_021100	NP_066923	Q9Y697	NFS1_HUMAN	NFS1 nitrogen fixation 1 precursor	383					cysteine metabolic process|iron incorporation into metallo-sulfur cluster|Mo-molybdopterin cofactor biosynthetic process|protein complex assembly|water-soluble vitamin metabolic process	cytosol|mitochondrial matrix|nucleus	cysteine desulfurase activity|protein homodimerization activity|pyridoxal phosphate binding			ovary(1)|skin(1)	2	Lung NSC(9;0.00608)|all_lung(11;0.00918)		BRCA - Breast invasive adenocarcinoma(18;0.0886)		L-Alanine(DB00160)|L-Cysteine(DB00151)|Pyridoxal Phosphate(DB00114)	CAGGGATGCAGAGGTGCAGGC	0.493		NaN											0	0	0	1	0	17	57				
NFS1	9054	broad.mit.edu	37	20	34262520	34262520	+	Nonsense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr20:34262520G>C	uc002xdw.1	-	9	1032	c.968C>G	c.(967-969)TCA>TGA	p.S323*	CPNE1_uc002xdn.1_5'Flank|CPNE1_uc002xdo.1_5'Flank|CPNE1_uc002xdp.1_RNA|NFS1_uc002xdt.1_Nonsense_Mutation_p.S263*|NFS1_uc002xdu.1_Nonsense_Mutation_p.S263*|NFS1_uc002xdv.1_RNA|NFS1_uc010zvk.1_Nonsense_Mutation_p.S121*|NFS1_uc010zvl.1_Nonsense_Mutation_p.S272*	NM_021100	NP_066923	Q9Y697	NFS1_HUMAN	NFS1 nitrogen fixation 1 precursor	323					cysteine metabolic process|iron incorporation into metallo-sulfur cluster|Mo-molybdopterin cofactor biosynthetic process|protein complex assembly|water-soluble vitamin metabolic process	cytosol|mitochondrial matrix|nucleus	cysteine desulfurase activity|protein homodimerization activity|pyridoxal phosphate binding			ovary(1)|skin(1)	2	Lung NSC(9;0.00608)|all_lung(11;0.00918)		BRCA - Breast invasive adenocarcinoma(18;0.0886)		L-Alanine(DB00160)|L-Cysteine(DB00151)|Pyridoxal Phosphate(DB00114)	TGACAACTTTGAGATTCGCTT	0.463		NaN											0	0	0	1	0	13	60				
MANBAL	63905	broad.mit.edu	37	20	35929739	35929739	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr20:35929739G>A	uc002xgu.2	+	3	285	c.73G>A	c.(73-75)GGA>AGA	p.G25R	MANBAL_uc002xgv.2_Missense_Mutation_p.G25R|MANBAL_uc002xgw.2_RNA|MANBAL_uc010gfx.2_RNA|MANBAL_uc010gfy.2_RNA	NM_022077	NP_071360	Q9NQG1	MANBL_HUMAN	mannosidase, beta A, lysosomal-like	25	Helical; (Potential).					integral to membrane					0		Myeloproliferative disorder(115;0.00878)				GCTACGGTACGGACTCTTCCT	0.597		NaN											0	0	0	1	0	24	90				
SLC32A1	140679	broad.mit.edu	37	20	37357157	37357157	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr20:37357157C>G	uc002xjc.2	+	2	1716	c.1453C>G	c.(1453-1455)CTG>GTG	p.L485V		NM_080552	NP_542119	Q9H598	VIAAT_HUMAN	solute carrier family 32, member 1	485	Lumenal, vesicle (Potential).				neurotransmitter secretion	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|integral to membrane|plasma membrane|synaptic vesicle membrane	vesicular hydrogen:amino acid antiporter activity				0		Myeloproliferative disorder(115;0.00878)			Glycine(DB00145)	CTGGCGCAAGCTGCTGTGGCA	0.652		NaN											0	0	0	1	0	16	42				
SFRS6	6431	broad.mit.edu	37	20	42088739	42088739	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr20:42088739G>T	uc010zwg.1	+	4	618	c.448G>T	c.(448-450)GTA>TTA	p.V150L	SFRS6_uc002xki.2_Missense_Mutation_p.V21L|SFRS6_uc002xkk.2_Missense_Mutation_p.V150L	NM_006275	NP_006266	Q13247	SRSF6_HUMAN	arginine/serine-rich splicing factor 6	150	RRM 2.				mRNA 3'-end processing|mRNA export from nucleus|mRNA splice site selection|termination of RNA polymerase II transcription	nucleoplasm	nucleotide binding|protein binding|RNA binding				0		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			AAATGAGGGTGTAATTGAGTT	0.428		NaN											1	0	2.27111e-07	1	2.34737e-07	13	61				
SFRS6	6431	broad.mit.edu	37	20	42088812	42088812	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr20:42088812G>C	uc010zwg.1	+	4	691	c.521G>C	c.(520-522)AGA>ACA	p.R174T	SFRS6_uc002xki.2_Missense_Mutation_p.R45T|SFRS6_uc002xkk.2_Missense_Mutation_p.R174T	NM_006275	NP_006266	Q13247	SRSF6_HUMAN	arginine/serine-rich splicing factor 6	174	RRM 2.				mRNA 3'-end processing|mRNA export from nucleus|mRNA splice site selection|termination of RNA polymerase II transcription	nucleoplasm	nucleotide binding|protein binding|RNA binding				0		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			ATAAATGGCAGAAATATTAGG	0.453		NaN											0	0	0	1	0	13	44				
TP53TG5	27296	broad.mit.edu	37	20	44003758	44003758	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr20:44003758G>A	uc002xny.2	-	4	770	c.689C>T	c.(688-690)TCC>TTC	p.S230F	SYS1_uc002xnw.1_3'UTR|SYS1-DBNDD2_uc002xnx.2_Intron	NM_014477	NP_055292	Q9Y2B4	T53G5_HUMAN	TP53-target gene 5 protein	230					intracellular signal transduction|negative regulation of cell growth	cytoplasm|nucleus				central_nervous_system(1)	1						ACGCAGGGTGGAGGATCTGCA	0.597		NaN											0	0	0	1	0	28	79				
PCIF1	63935	broad.mit.edu	37	20	44573623	44573623	+	Silent	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr20:44573623G>C	uc002xqs.2	+	11	1436	c.1122G>C	c.(1120-1122)CGG>CGC	p.R374R	PCIF1_uc002xqt.2_5'UTR|PCIF1_uc002xqu.2_5'Flank	NM_022104	NP_071387	Q9H4Z3	PCIF1_HUMAN	phosphorylated CTD interacting factor 1	374						nucleus				skin(1)	1						ACGTCAAACGGATCCGAGAGA	0.572		NaN											0	0	0	1	0	7	36				
PCIF1	63935	broad.mit.edu	37	20	44574946	44574946	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr20:44574946C>T	uc002xqs.2	+	14	1850	c.1536C>T	c.(1534-1536)TTC>TTT	p.F512F	PCIF1_uc002xqt.2_Silent_p.F92F|PCIF1_uc002xqu.2_5'Flank	NM_022104	NP_071387	Q9H4Z3	PCIF1_HUMAN	phosphorylated CTD interacting factor 1	512						nucleus				skin(1)	1						TCGAGTGCTTCGCCTCACCCC	0.642		NaN											0	0	0	1	0	55	163				
SLC12A5	57468	broad.mit.edu	37	20	44678355	44678355	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr20:44678355G>A	uc010zxl.1	+	17	2252	c.2176G>A	c.(2176-2178)GGC>AGC	p.G726S	SLC12A5_uc010zxm.1_RNA|SLC12A5_uc002xrb.2_Missense_Mutation_p.G703S	NM_001134771	NP_001128243	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium-chloride	726					potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity			ovary(2)|large_intestine(1)|central_nervous_system(1)|skin(1)	5		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	GGCGGGGAAGGGCCTGACCAT	0.622		NaN											0	0	0	1	0	3	8				
ZNF334	55713	broad.mit.edu	37	20	45130355	45130355	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr20:45130355C>T	uc002xsc.2	-	5	1807	c.1623G>A	c.(1621-1623)GAG>GAA	p.E541E	ZNF334_uc002xsa.2_Silent_p.E564E|ZNF334_uc002xsb.2_Silent_p.E503E|ZNF334_uc002xsd.2_Silent_p.E503E|ZNF334_uc010ghl.2_Silent_p.E540E	NM_018102	NP_060572	Q9HCZ1	ZN334_HUMAN	zinc finger protein 334 isoform a	541					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|pancreas(1)	2		Myeloproliferative disorder(115;0.0122)				CATATGGTCTCTCCCATATAG	0.448		NaN											0	0	0	1	0	40	149				
CSE1L	1434	broad.mit.edu	37	20	47706100	47706100	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr20:47706100G>A	uc002xty.2	+	19	2132	c.1998G>A	c.(1996-1998)GTG>GTA	p.V666V	CSE1L_uc010zyg.1_Silent_p.V449V|CSE1L_uc010ghx.2_Silent_p.V610V|CSE1L_uc010ghy.2_Silent_p.V287V|CSE1L_uc010zyh.1_Silent_p.V315V	NM_001316	NP_001307	P55060	XPO2_HUMAN	CSE1 chromosome segregation 1-like protein	666					apoptosis|cell proliferation|intracellular protein transport	cytoplasm|nucleus	importin-alpha export receptor activity			large_intestine(1)|skin(1)	2			BRCA - Breast invasive adenocarcinoma(12;0.000491)|Colorectal(8;0.198)			TCTTTCAAGTGATGTCTTTGC	0.413		NaN											0	0	0	1	0	14	67				
SALL4	57167	broad.mit.edu	37	20	50418832	50418832	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr20:50418832G>A	uc002xwh.3	-	1	217	c.116C>T	c.(115-117)GCG>GTG	p.A39V	SALL4_uc010gii.2_Missense_Mutation_p.A39V|SALL4_uc002xwi.3_Missense_Mutation_p.A39V	NM_020436	NP_065169	Q9UJQ4	SALL4_HUMAN	sal-like 4	39					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2						CTcccccgccgcgggcgccgc	0.612		NaN											0	0	0	1	0	4	19				
STX16	8675	broad.mit.edu	37	20	57245657	57245657	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr20:57245657C>T	uc002xzi.2	+	6	1381	c.646C>T	c.(646-648)CGG>TGG	p.R216W	STX16_uc010zzq.1_Missense_Mutation_p.R30W|STX16_uc002xzk.2_Missense_Mutation_p.R199W|STX16_uc002xzm.2_Missense_Mutation_p.R212W|STX16_uc002xzj.2_Missense_Mutation_p.R195W|STX16_uc002xzl.2_Missense_Mutation_p.R30W	NM_001001433	NP_001001433	O14662	STX16_HUMAN	syntaxin 16 isoform a	216	Cytoplasmic (Potential).				intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde transport, endosome to Golgi	Golgi membrane|integral to membrane|microsome|SNARE complex	SNAP receptor activity			ovary(1)	1	all_lung(29;0.0175)		BRCA - Breast invasive adenocarcinoma(13;3.73e-09)|Epithelial(14;8.54e-06)|all cancers(14;6.89e-05)			TCTTTACCATCGGGTACGTGA	0.473		NaN											0	0	0	1	0	20	63				
PHACTR3	116154	broad.mit.edu	37	20	58330240	58330240	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr20:58330240C>T	uc002yau.2	+	4	829	c.362C>T	c.(361-363)GCT>GTT	p.A121V	PHACTR3_uc002yat.2_Missense_Mutation_p.A118V|PHACTR3_uc010zzw.1_Missense_Mutation_p.A80V|PHACTR3_uc002yav.2_Missense_Mutation_p.A80V|PHACTR3_uc002yaw.2_Missense_Mutation_p.A80V|PHACTR3_uc002yax.2_Missense_Mutation_p.A80V	NM_080672	NP_542403	Q96KR7	PHAR3_HUMAN	phosphatase and actin regulator 3 isoform 1	121						nuclear matrix	actin binding|protein phosphatase inhibitor activity			ovary(2)|pancreas(1)	3	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;2.76e-09)			CTTGTAGATGCTGAAAGCAAA	0.537		NaN											0	0	0	1	0	13	43				
DIDO1	11083	broad.mit.edu	37	20	61524224	61524224	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr20:61524224C>G	uc002ydr.1	-	13	3456	c.3192G>C	c.(3190-3192)CAG>CAC	p.Q1064H	DIDO1_uc002yds.1_Missense_Mutation_p.Q1064H|DIDO1_uc002ydt.1_Missense_Mutation_p.Q1064H|DIDO1_uc002ydu.1_Missense_Mutation_p.Q1064H	NM_033081	NP_149072	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1 isoform c	1064					apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			ovary(3)|skin(3)	6	Breast(26;5.68e-08)					TTGCCACACTCTGCATGTTAA	0.448		NaN											0	0	0	1	0	17	64				
EEF1A2	1917	broad.mit.edu	37	20	62127331	62127331	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr20:62127331C>G	uc002yfd.1	-	2	303	c.202G>C	c.(202-204)GAG>CAG	p.E68Q	EEF1A2_uc002yfe.1_Missense_Mutation_p.E68Q|EEF1A2_uc010gkg.1_Missense_Mutation_p.E68Q	NM_001958	NP_001949	Q05639	EF1A2_HUMAN	eukaryotic translation elongation factor 1 alpha	68						nucleus	GTP binding|GTPase activity|protein binding|translation elongation factor activity				0	all_cancers(38;9.45e-12)		BRCA - Breast invasive adenocarcinoma(10;1.22e-05)			ATGCCGCGCTCACGCTCCGCC	0.612		NaN									OREG0026129	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	1	0	36	118				
STMN3	50861	broad.mit.edu	37	20	62275251	62275251	+	Nonsense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr20:62275251G>C	uc002yfr.1	-	3	231	c.149C>G	c.(148-150)TCA>TGA	p.S50*	STMN3_uc011abb.1_Nonsense_Mutation_p.S50*	NM_015894	NP_056978	Q9NZ72	STMN3_HUMAN	SCG10-like-protein	50					cytoplasmic microtubule organization|intracellular signal transduction|negative regulation of Rac protein signal transduction|neuron projection development|regulation of cytoskeleton organization|regulation of Rac GTPase activity	cytoplasm	protein domain specific binding				0	all_cancers(38;2.31e-11)|all_epithelial(29;7.76e-13)		Epithelial(9;1.9e-09)|all cancers(9;1.22e-08)|BRCA - Breast invasive adenocarcinoma(10;8.86e-06)|OV - Ovarian serous cystadenocarcinoma(5;0.00559)			GCTCTGGCCTGAGGCCCGCTT	0.627		NaN											0	0	0	1	0	31	110				
CLDN17	26285	broad.mit.edu	37	21	31538639	31538639	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr21:31538639G>C	uc011acv.1	-	1	297	c.297C>G	c.(295-297)ATC>ATG	p.I99M		NM_012131	NP_036263	P56750	CLD17_HUMAN	claudin 17	99	Helical; (Potential).				calcium-independent cell-cell adhesion|tight junction assembly	Golgi apparatus|integral to membrane|tight junction	identical protein binding|structural molecule activity			ovary(2)	2						TCATGCCACAGATGCCAATAA	0.567		NaN											0	0	0	1	0	37	83				
C21orf45	54069	broad.mit.edu	37	21	33651219	33651219	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr21:33651219G>C	uc002ypi.2	-	1	158	c.107C>G	c.(106-108)TCC>TGC	p.S36C	C21orf45_uc011adn.1_Missense_Mutation_p.S36C	NM_018944	NP_061817	Q9NYP9	MS18A_HUMAN	chromosome 21 open reading frame 45	36					cell division|CenH3-containing nucleosome assembly at centromere|mitosis	chromosome, centromeric region|nucleoplasm					0						CGAGTCTTCGGAGAGTCTCTT	0.637		NaN											0	0	0	1	0	16	57				
GCFC1	94104	broad.mit.edu	37	21	34133456	34133456	+	Missense_Mutation	SNP	C	C	G	rs79555426	by1000genomes	TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr21:34133456C>G	uc002yqn.2	-	5	1079	c.889G>C	c.(889-891)GAT>CAT	p.D297H	GCFC1_uc002yqo.2_RNA|GCFC1_uc002yqp.2_Missense_Mutation_p.D297H|GCFC1_uc002yqr.2_Missense_Mutation_p.D297H	NM_016631	NP_057715	Q9Y5B6	GCFC1_HUMAN	GC-rich sequence DNA-binding factor candidate	297						cytosol|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(2)	2						AAAGCATCATCATCACTCCCC	0.423		NaN											0	0	0	1	0	60	194				
KCNE2	9992	broad.mit.edu	37	21	35743045	35743045	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr21:35743045G>C	uc002ytt.1	+	2	408	c.268G>C	c.(268-270)GAG>CAG	p.E90Q		NM_172201	NP_751951	Q9Y6J6	KCNE2_HUMAN	potassium voltage-gated channel, Isk-related	90	Cytoplasmic (Potential).				blood circulation|muscle contraction|regulation of heart contraction	lysosome|voltage-gated potassium channel complex	voltage-gated potassium channel activity				0						GTACATTGTAGAGGACTGGCA	0.483		NaN											0	0	0	1	0	14	39				
DOPEY2	9980	broad.mit.edu	37	21	37617591	37617591	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr21:37617591G>C	uc002yvg.2	+	19	3392	c.3313G>C	c.(3313-3315)GAC>CAC	p.D1105H	DOPEY2_uc011aeb.1_Missense_Mutation_p.D1054H|DOPEY2_uc002yvh.2_5'UTR	NM_005128	NP_005119	Q9Y3R5	DOP2_HUMAN	pad-1-like	1105					endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport	Golgi membrane				ovary(1)|central_nervous_system(1)	2						CGGCGCCCCGGACAGCAGCGA	0.647		NaN											0	0	0	1	0	21	104				
DOPEY2	9980	broad.mit.edu	37	21	37617864	37617864	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr21:37617864G>A	uc002yvg.2	+	19	3665	c.3586G>A	c.(3586-3588)GAG>AAG	p.E1196K	DOPEY2_uc011aeb.1_Missense_Mutation_p.E1145K|DOPEY2_uc002yvh.2_Missense_Mutation_p.E47K	NM_005128	NP_005119	Q9Y3R5	DOP2_HUMAN	pad-1-like	1196					endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport	Golgi membrane				ovary(1)|central_nervous_system(1)	2						CTCCAGCGACGAGGAGGCGGA	0.617		NaN											0	0	0	1	0	22	71				
DOPEY2	9980	broad.mit.edu	37	21	37618604	37618604	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr21:37618604G>A	uc002yvg.2	+	19	4405	c.4326G>A	c.(4324-4326)CTG>CTA	p.L1442L	DOPEY2_uc011aeb.1_Silent_p.L1391L|DOPEY2_uc002yvh.2_Silent_p.L293L	NM_005128	NP_005119	Q9Y3R5	DOP2_HUMAN	pad-1-like	1442					endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport	Golgi membrane				ovary(1)|central_nervous_system(1)	2						TTGAGCTGCTGAAGCTGCTGC	0.612		NaN											0	0	0	1	0	16	43				
DOPEY2	9980	broad.mit.edu	37	21	37618697	37618697	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr21:37618697G>C	uc002yvg.2	+	19	4498	c.4419G>C	c.(4417-4419)CAG>CAC	p.Q1473H	DOPEY2_uc011aeb.1_Missense_Mutation_p.Q1422H|DOPEY2_uc002yvh.2_Missense_Mutation_p.Q324H	NM_005128	NP_005119	Q9Y3R5	DOP2_HUMAN	pad-1-like	1473					endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport	Golgi membrane				ovary(1)|central_nervous_system(1)	2						GGGAGTGGCAGAGAGCCCTGA	0.647		NaN											0	0	0	1	0	8	33				
DOPEY2	9980	broad.mit.edu	37	21	37620841	37620841	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr21:37620841C>G	uc002yvg.2	+	21	5052	c.4973C>G	c.(4972-4974)TCT>TGT	p.S1658C	DOPEY2_uc011aeb.1_Missense_Mutation_p.S1607C|DOPEY2_uc002yvh.2_Missense_Mutation_p.S509C	NM_005128	NP_005119	Q9Y3R5	DOP2_HUMAN	pad-1-like	1658					endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport	Golgi membrane				ovary(1)|central_nervous_system(1)	2						AAGGGATCCTCTTCCGTTTAC	0.438		NaN											0	0	0	1	0	12	54				
MORC3	23515	broad.mit.edu	37	21	37717293	37717293	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr21:37717293C>T	uc002yvi.2	+	8	1045	c.969C>T	c.(967-969)CTC>CTT	p.L323L		NM_015358	NP_056173	Q14149	MORC3_HUMAN	MORC family CW-type zinc finger 3	323					cell aging|maintenance of protein location in nucleus|negative regulation of fibroblast proliferation|peptidyl-serine phosphorylation|protein stabilization	aggresome|intermediate filament cytoskeleton|PML body	ATP binding|zinc ion binding			ovary(2)	2						GAAATAGACTCATCAAAGCTT	0.279		NaN											0	0	0	1	0	9	26				
DSCAM	1826	broad.mit.edu	37	21	41561016	41561016	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr21:41561016G>C	uc002yyq.1	-	12	2958	c.2506C>G	c.(2506-2508)CTT>GTT	p.L836V	DSCAM_uc002yyr.1_RNA	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule isoform	836	Ig-like C2-type 9.|Extracellular (Potential).				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			ovary(6)|skin(4)|upper_aerodigestive_tract(1)	11		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				GTGGACACAAGATAACGGGCC	0.473		NaN											0	0	0	1	0	39	113				
TMPRSS2	7113	broad.mit.edu	37	21	42845282	42845282	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr21:42845282C>T	uc002yzj.2	-	9	1003	c.869G>A	c.(868-870)TGG>TAG	p.W290*	TMPRSS2_uc010gor.2_Nonsense_Mutation_p.W327*|TMPRSS2_uc010gos.1_Nonsense_Mutation_p.W290*	NM_005656	NP_005647	O15393	TMPS2_HUMAN	transmembrane protease, serine 2 isoform 2	290	Peptidase S1.|Extracellular (Potential).				proteolysis	cytoplasm|extracellular region|integral to plasma membrane	scavenger receptor activity|serine-type endopeptidase activity		TMPRSS2/ERG(2499)|TMPRSS2/ETV1(24)	prostate(2523)|central_nervous_system(1)	2524		Prostate(19;4.48e-07)|all_epithelial(19;0.031)				TGTCACGATCCACTCGGGGGT	0.672		NaN	T	ERG|ETV1|ETV4|ETV5	prostate 								0	0	0	1	0	10	24				
PDE9A	5152	broad.mit.edu	37	21	44192610	44192610	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr21:44192610G>C	uc002zbm.2	+	19	1811	c.1748G>C	c.(1747-1749)AGA>ACA	p.R583T	PDE9A_uc002zbn.2_Missense_Mutation_p.R456T|PDE9A_uc002zbo.2_Missense_Mutation_p.R530T|PDE9A_uc002zbp.2_Missense_Mutation_p.R376T|PDE9A_uc002zbq.2_Missense_Mutation_p.R481T|PDE9A_uc002zbs.2_Missense_Mutation_p.R376T|PDE9A_uc002zbr.2_Missense_Mutation_p.R376T|PDE9A_uc002zbt.2_Missense_Mutation_p.R455T|PDE9A_uc002zbu.2_Missense_Mutation_p.R449T|PDE9A_uc002zbv.2_Missense_Mutation_p.R423T|PDE9A_uc002zbw.2_Missense_Mutation_p.R366T|PDE9A_uc002zbx.2_Missense_Mutation_p.R523T|PDE9A_uc002zby.2_Missense_Mutation_p.R366T|PDE9A_uc002zbz.2_Missense_Mutation_p.R475T|PDE9A_uc002zca.2_Missense_Mutation_p.R542T|PDE9A_uc002zcb.2_Missense_Mutation_p.R557T|PDE9A_uc002zcc.2_Missense_Mutation_p.R482T|PDE9A_uc002zcd.2_Missense_Mutation_p.R497T|PDE9A_uc002zce.2_Missense_Mutation_p.R516T|PDE9A_uc002zcf.2_Missense_Mutation_p.R376T|PDE9A_uc002zcg.2_Missense_Mutation_p.R376T|PDE9A_uc002zch.2_Missense_Mutation_p.R366T	NM_002606	NP_002597	O76083	PDE9A_HUMAN	phosphodiesterase 9A isoform a	583					platelet activation|signal transduction	cytosol|endoplasmic reticulum|Golgi apparatus|perinuclear region of cytoplasm|ruffle membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding|protein binding			ovary(1)|skin(1)	2						GAGAGAAGCAGAGATGTGAAA	0.498		NaN											0	0	0	1	0	6	15				
PWP2	5822	broad.mit.edu	37	21	45548494	45548494	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr21:45548494G>A	uc002zeb.2	+	20	2662	c.2572G>A	c.(2572-2574)GAC>AAC	p.D858N		NM_005049	NP_005040	Q15269	PWP2_HUMAN	PWP2 periodic tryptophan protein homolog	858						cytoplasm|nucleolus	signal transducer activity			pancreas(1)	1				STAD - Stomach adenocarcinoma(101;0.172)|Colorectal(79;0.2)		GCACCTGGACGACCTGTCGAA	0.632		NaN											0	0	0	1	0	8	36				
KRTAP10-9	386676	broad.mit.edu	37	21	46047228	46047228	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr21:46047228G>A	uc002zfp.3	+	1	189	c.140G>A	c.(139-141)TGC>TAC	p.C47Y	C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron	NM_198690	NP_941963	P60411	KR109_HUMAN	keratin associated protein 10-9	47	25 X 5 AA repeats of C-C-X(3).					keratin filament					0						ACCCTGGTCTGCACCCCAGTG	0.701		NaN											0	0	0	1	0	36	146				
ADARB1	104	broad.mit.edu	37	21	46596309	46596309	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr21:46596309G>A	uc002zgy.2	+	4	1128	c.693G>A	c.(691-693)CCG>CCA	p.P231P	ADARB1_uc002zgr.2_Silent_p.P231P|ADARB1_uc002zgs.2_RNA|ADARB1_uc002zgw.2_Silent_p.P231P|ADARB1_uc002zgv.2_RNA|ADARB1_uc002zgt.2_Silent_p.P231P|ADARB1_uc010gpx.2_Intron|ADARB1_uc002zgq.2_RNA|ADARB1_uc002zgu.2_RNA|ADARB1_uc011afo.1_Silent_p.P280P	NM_015833	NP_056648	P78563	RED1_HUMAN	RNA-specific adenosine deaminase B1 isoform 2	231	DRBM 2.				adenosine to inosine editing|mRNA modification|mRNA processing|RNA processing	nucleoplasm|nucleus	double-stranded RNA adenosine deaminase activity|double-stranded RNA adenosine deaminase activity|double-stranded RNA binding|double-stranded RNA binding|metal ion binding|mRNA binding|RNA binding			skin(1)	1				Colorectal(79;0.115)		TCCCACCCCCGAGTGGGAAGA	0.597		NaN											0	0	0	1	0	21	84				
PCNT	5116	broad.mit.edu	37	21	47851626	47851626	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr21:47851626G>C	uc002zji.3	+	38	8355	c.8248G>C	c.(8248-8250)GAG>CAG	p.E2750Q	PCNT_uc002zjj.2_Missense_Mutation_p.E2632Q	NM_006031	NP_006022	O95613	PCNT_HUMAN	pericentrin	2750	Potential.				cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding			ovary(4)|breast(2)|pancreas(2)	8	Breast(49;0.112)					CCTTGCGGCTGAGAAGAGCCG	0.647		NaN											0	0	0	1	0	7	36				
SLC7A4	6545	broad.mit.edu	37	22	21384215	21384215	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr22:21384215C>T	uc002zud.2	-	3	1476	c.1408G>A	c.(1408-1410)GAT>AAT	p.D470N	SLC7A4_uc002zue.2_Missense_Mutation_p.D470N	NM_004173	NP_004164	O43246	CTR4_HUMAN	solute carrier family 7 (cationic amino acid	470					cellular amino acid metabolic process	integral to membrane	basic amino acid transmembrane transporter activity			ovary(1)|lung(1)	2	all_cancers(11;2.85e-22)|Lung NSC(8;4.21e-14)|all_lung(8;6.08e-13)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0968)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)		L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	CTGTACCCATCCAAGAAGCCC	0.612		NaN											0	0	0	1	0	16	48				
MYO18B	84700	broad.mit.edu	37	22	26176157	26176157	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr22:26176157C>G	uc003abz.1	+	9	2453	c.2203C>G	c.(2203-2205)CAG>GAG	p.Q735E	MYO18B_uc003aca.1_Missense_Mutation_p.Q616E|MYO18B_uc010guy.1_Missense_Mutation_p.Q616E|MYO18B_uc010guz.1_Missense_Mutation_p.Q616E|MYO18B_uc011aka.1_5'UTR|MYO18B_uc011akb.1_Missense_Mutation_p.Q248E	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	735	Myosin head-like.					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			ovary(5)|central_nervous_system(3)|large_intestine(2)|breast(2)	12						CACAGCTGCTCAGCTCCAGGT	0.657		NaN											0	0	0	1	0	6	22				
GAS2L1	10634	broad.mit.edu	37	22	29707904	29707904	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr22:29707904C>T	uc003afa.1	+	7	1663	c.1464C>T	c.(1462-1464)GTC>GTT	p.V488V	GAS2L1_uc010gvm.1_Intron|GAS2L1_uc003afb.1_3'UTR|GAS2L1_uc003afc.1_Silent_p.V488V|GAS2L1_uc003afd.1_Missense_Mutation_p.S488F|GAS2L1_uc003afe.1_Missense_Mutation_p.S488F	NM_152236	NP_689422	Q99501	GA2L1_HUMAN	growth arrest-specific 2 like 1 isoform a	488					cell cycle arrest	cytoplasm|cytoskeleton					0						TTTCCCGGGTCTCCAGCCCCA	0.716		NaN											0	0	0	1	0	19	50				
MTP18	51537	broad.mit.edu	37	22	30822740	30822740	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr22:30822740C>T	uc003ahw.1	+	2	251	c.103C>T	c.(103-105)CTT>TTT	p.L35F	SEC14L2_uc010gvw.1_Intron|MTP18_uc010gvx.1_Intron|MTP18_uc003ahv.1_Missense_Mutation_p.L197F|MTP18_uc010gvy.1_Intron|MTP18_uc003ahx.1_Missense_Mutation_p.L35F	NM_016498	NP_057582	Q9UDX5	MTFP1_HUMAN	mitochondrial protein 18 kDa isoform a	35	Helical; (Potential).				apoptosis|carbon utilization	integral to membrane|mitochondrial inner membrane	carbonate dehydratase activity|zinc ion binding				0						TTTCCGCTCTCTTGTGCCAGC	0.542		NaN									OREG0026460	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	1	0	18	58				
OSBP2	23762	broad.mit.edu	37	22	31302219	31302219	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr22:31302219G>C	uc003aiy.1	+	14	2748	c.2644G>C	c.(2644-2646)GAG>CAG	p.E882Q	OSBP2_uc011ala.1_Missense_Mutation_p.E716Q|OSBP2_uc010gwc.1_Missense_Mutation_p.E709Q|OSBP2_uc011alb.1_Nonstop_Mutation_p.*875S|OSBP2_uc003aiz.1_Missense_Mutation_p.E881Q|OSBP2_uc003aja.1_Missense_Mutation_p.E515Q|OSBP2_uc011alc.1_Missense_Mutation_p.E625Q|OSBP2_uc003ajb.2_Missense_Mutation_p.E427Q|OSBP2_uc011ald.1_Missense_Mutation_p.E426Q|OSBP2_uc010gwd.1_Nonstop_Mutation_p.*365S	NM_030758	NP_110385	Q969R2	OSBP2_HUMAN	oxysterol binding protein 2 isoform a	882					lipid transport	membrane	lipid binding			breast(1)|skin(1)	2						ACTGTGGTTTGAGAAGAGGCT	0.627		NaN											0	0	0	1	0	34	81				
MYH9	4627	broad.mit.edu	37	22	36718556	36718557	+	Missense_Mutation	DNP	TC	TC	CT			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr22:36718556_36718557TC>CT	uc003apg.2	-	6	853_854	c.622_623GA>AG	c.(622-624)GAG>AGG	p.E208R	MYH9_uc003aph.1_Missense_Mutation_p.E72R	NM_002473	NP_002464	P35579	MYH9_HUMAN	myosin, heavy polypeptide 9, non-muscle	208	Myosin head-like.				actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity			breast(3)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|lung(1)|skin(1)|kidney(1)|pancreas(1)	11						CAGCTGCCGCTCCAGCTCGCCC	0.683		NaN	T	ALK	ALCL		Deafness|autosomal dominant 17|Epstein syndrome|Fechtner syndrome|May-Hegglin anomaly|Sebastian syndrome		Hereditary_Macrothrombocytopenia_MYH9-associated				0	0	0	1	0	37	59				
EP300	2033	broad.mit.edu	37	22	41513766	41513766	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr22:41513766C>T	uc003azl.3	+	2	1065	c.670C>T	c.(670-672)CAG>TAG	p.Q224*		NM_001429	NP_001420	Q09472	EP300_HUMAN	E1A binding protein p300	224					apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(22)|large_intestine(13)|breast(9)|central_nervous_system(5)|upper_aerodigestive_tract(4)|pancreas(4)|lung(3)|ovary(2)|stomach(1)|skin(1)	64						TGAGCCTCTTCAGCAGGGCTC	0.532		NaN	T| N|F|Mis|O	MLL|RUNXBP2	colorectal|breast|pancreatic|AML|ALL|DLBCL				Rubinstein-Taybi_syndrome				0	0	0	1	0	16	34		Valid		
EP300	2033	broad.mit.edu	37	22	41573148	41573148	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr22:41573148G>T	uc003azl.3	+	31	5828	c.5433G>T	c.(5431-5433)CAG>CAT	p.Q1811H		NM_001429	NP_001420	Q09472	EP300_HUMAN	E1A binding protein p300	1811	Binding region for E1A adenovirus.				apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(22)|large_intestine(13)|breast(9)|central_nervous_system(5)|upper_aerodigestive_tract(4)|pancreas(4)|lung(3)|ovary(2)|stomach(1)|skin(1)	64						ACATCAAGCAGAAGCTCCGGC	0.597		NaN	T| N|F|Mis|O	MLL|RUNXBP2	colorectal|breast|pancreatic|AML|ALL|DLBCL				Rubinstein-Taybi_syndrome				1	0	1.55811e-20	1	1.65592e-20	31	90		Valid		
NAGA	4668	broad.mit.edu	37	22	42463781	42463781	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr22:42463781G>A	uc003bbx.2	-	4	449	c.312C>T	c.(310-312)TTC>TTT	p.F104F	NAGA_uc003bby.2_Silent_p.F104F|NAGA_uc003bbw.3_Silent_p.F104F	NM_000262	NP_000253	P17050	NAGAB_HUMAN	alpha-N-acetylgalactosaminidase precursor	104					glycoside catabolic process|glycosylceramide catabolic process|oligosaccharide metabolic process	lysosome	alpha-galactosidase activity|alpha-N-acetylgalactosaminidase activity|cation binding|protein homodimerization activity			central_nervous_system(1)	1						AGTCAGCCAGGAAAGGAATGC	0.582		NaN											0	0	0	1	0	30	95				
TCF20	6942	broad.mit.edu	37	22	42606970	42606970	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr22:42606970C>G	uc003bcj.1	-	1	4476	c.4342G>C	c.(4342-4344)GAG>CAG	p.E1448Q	TCF20_uc003bck.1_Missense_Mutation_p.E1448Q|TCF20_uc003bnt.2_Missense_Mutation_p.E1448Q	NM_005650	NP_005641	Q9UGU0	TCF20_HUMAN	transcription factor 20 isoform 1	1448					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			ovary(4)|skin(1)	5						GCATGTGTCTCTGTCTTCACT	0.527		NaN											0	0	0	1	0	52	158				
ARFGAP3	26286	broad.mit.edu	37	22	43204836	43204836	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr22:43204836C>A	uc003bdd.2	-	13	1477	c.1257G>T	c.(1255-1257)AAG>AAT	p.K419N	ARFGAP3_uc010gzf.2_Missense_Mutation_p.K375N	NM_014570	NP_055385	Q9NP61	ARFG3_HUMAN	ADP-ribosylation factor GTPase activating	419					intracellular protein transport|protein secretion|regulation of ARF GTPase activity|vesicle-mediated transport	cytosol|Golgi membrane	ARF GTPase activator activity|protein transporter activity|zinc ion binding			breast(1)	1						TGCCAAACTTCTTCTGGGCCT	0.423		NaN											1	0	4.16155e-14	1	4.3788e-14	41	109				
PNPLA3	80339	broad.mit.edu	37	22	44342253	44342253	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr22:44342253G>A	uc003bei.1	+	9	1610	c.1437G>A	c.(1435-1437)AAG>AAA	p.K479K	PNPLA3_uc010gzm.1_Intron	NM_025225	NP_079501	Q9NST1	PLPL3_HUMAN	patatin-like phospholipase domain containing 3	479	Lumenal (Potential).				triglyceride biosynthetic process|triglyceride catabolic process	integral to membrane	diolein transacylation activity|mono-olein transacylation activity|phospholipase A2 activity|triglyceride lipase activity				0		Ovarian(80;0.024)|all_neural(38;0.0416)				CACTAGAGAAGAGTCTGTGAG	0.512		NaN									OREG0026623	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	1	0	29	96				
PARVB	29780	broad.mit.edu	37	22	44395417	44395417	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr22:44395417G>T	uc003bem.2	+	2	123	c.75G>T	c.(73-75)AGG>AGT	p.R25S		NM_001003828	NP_001003828	Q9HBI1	PARVB_HUMAN	parvin, beta isoform a	Error:Variant_position_missing_in_Q9HBI1_after_alignment					cell adhesion|cell junction assembly	cytoskeleton|cytosol|focal adhesion	actin binding				0		Ovarian(80;0.0246)|all_neural(38;0.0423)				cctgcagcaggaggctggagc	0.005		NaN											1	0	8.73648e-17	1	9.25007e-17	35	105				
TBC1D22A	25771	broad.mit.edu	37	22	47307990	47307990	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr22:47307990C>T	uc003bib.2	+	8	1056	c.921C>T	c.(919-921)TTC>TTT	p.F307F	TBC1D22A_uc010haf.2_Silent_p.F277F|TBC1D22A_uc003bic.2_Silent_p.F248F|TBC1D22A_uc003bie.2_Silent_p.F229F|TBC1D22A_uc003bid.2_RNA|TBC1D22A_uc010hag.2_RNA|TBC1D22A_uc003bif.2_Silent_p.F260F	NM_014346	NP_055161	Q8WUA7	TB22A_HUMAN	TBC1 domain family, member 22A	307	Rab-GAP TBC.					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)		GGATCTTGTTCATATGGGCGA	0.373		NaN											0	0	0	1	0	35	85				
ZBED4	9889	broad.mit.edu	37	22	50277808	50277808	+	Silent	SNP	G	G	A	rs141158718		TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr22:50277808G>A	uc003bix.2	+	2	968	c.498G>A	c.(496-498)CCG>CCA	p.P166P		NM_014838	NP_055653	O75132	ZBED4_HUMAN	zinc finger, BED-type containing 4	166	BED-type 1.					cytoplasm|nucleus	DNA binding|metal ion binding|protein dimerization activity			ovary(2)	2		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.168)|BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)		GCGCACACCCGACCGTGCTCA	0.557		NaN											0	0	0	1	0	21	72				
FAM116B	414918	broad.mit.edu	37	22	50753332	50753332	+	Silent	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr22:50753332C>G	uc011aru.1	-	11	849	c.777G>C	c.(775-777)CTG>CTC	p.L259L	FAM116B_uc011arv.1_Silent_p.L259L	NM_001001794	NP_001001794	Q8NEG7	F116B_HUMAN	family with sequence similarity 116, member B	259											0		all_cancers(38;4.34e-09)|all_epithelial(38;3.03e-08)|all_lung(38;0.00141)|Breast(42;0.00387)|Lung NSC(38;0.0199)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		GCATATGAGTCAGCACAGGCC	0.672		NaN											0	0	0	1	0	12	36				
ARSA	410	broad.mit.edu	37	22	51063878	51063878	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr22:51063878C>T	uc003bnb.3	-	9	1472	c.1219G>A	c.(1219-1221)GAT>AAT	p.D407N	ARSA_uc003bna.3_Missense_Mutation_p.D323N|ARSA_uc003bnc.3_Missense_Mutation_p.D407N|ARSA_uc003bnd.3_Missense_Mutation_p.D407N|ARSA_uc003bmz.3_Missense_Mutation_p.D407N	NM_001085426	NP_001078895	P15289	ARSA_HUMAN	arylsulfatase A isoform a precursor	407			Missing (in MLD; late-infantile-onset).			lysosome	arylsulfatase activity|calcium ion binding|cerebroside-sulfatase activity			pancreas(1)|skin(1)	2		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	Micafungin(DB01141)	GCAGTGGTATCACTGTGGGCA	0.642		NaN											0	0	0	1	0	85	71				
CPNE9	151835	broad.mit.edu	37	3	9754751	9754751	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:9754751G>A	uc003bsd.2	+	9	809	c.638G>A	c.(637-639)GGA>GAA	p.G213E		NM_153635	NP_705899	Q8IYJ1	CPNE9_HUMAN	copine-like protein	213	C2 2.									ovary(2)	2	Medulloblastoma(99;0.227)					CTGTGCAATGGAGACTATGAC	0.527		NaN											0	0	0	1	0	11	33				
TTLL3	26140	broad.mit.edu	37	3	9843424	9843424	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:9843424G>A	uc003btd.3	+	3	311	c.32G>A	c.(31-33)CGA>CAA	p.R11Q	ARPC4_uc003bsz.1_Missense_Mutation_p.R105Q|ARPC4_uc003bta.1_Missense_Mutation_p.R15Q|ARPC4_uc003btb.1_Missense_Mutation_p.R15Q|ARPC4_uc003btc.1_Intron			Q9Y4R7	TTLL3_HUMAN	RecName: Full=Tubulin--tyrosine ligase-like protein 3; AltName: Full=HOTTL;	11					axoneme assembly|cilium assembly|protein polyglycylation	cilium axoneme|cytoplasm|microtubule	protein-glycine ligase activity, initiating|tubulin-tyrosine ligase activity			large_intestine(2)	2	Medulloblastoma(99;0.227)					TTTATCCTTCGAAGGAAGCCT	0.498		NaN											0	0	0	1	0	3	20				
PRRT3	285368	broad.mit.edu	37	3	9988025	9988025	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:9988025C>T	uc003bul.2	-	4	2962	c.2832G>A	c.(2830-2832)CCG>CCA	p.P944P	CIDEC_uc003bto.2_Intron|PRRT3_uc003buk.2_RNA	NM_207351	NP_997234	Q5FWE3	PRRT3_HUMAN	proline-rich transmembrane protein 3 precursor	944	Cytoplasmic (Potential).					integral to membrane					0						GGGCTGGGGTCGGGGCAGGCA	0.662		NaN											0	0	0	1	0	20	49				
ATP2B2	491	broad.mit.edu	37	3	10382201	10382201	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:10382201G>A	uc003bvt.2	-	20	3544	c.3105C>T	c.(3103-3105)ATC>ATT	p.I1035I	ATP2B2_uc003bvv.2_Silent_p.I990I|ATP2B2_uc003bvw.2_Silent_p.I990I|ATP2B2_uc010hdo.2_Silent_p.I740I	NM_001001331	NP_001001331	Q01814	AT2B2_HUMAN	plasma membrane calcium ATPase 2 isoform 1	1035	Helical; (Potential).				ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|ATP binding|calcium ion binding|calcium-transporting ATPase activity|calcium-transporting ATPase activity|calmodulin binding|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding			ovary(3)|skin(2)|central_nervous_system(1)	6						TGCCCAGCACGATGGTGCAGA	0.627		NaN											0	0	0	1	0	41	116				
SLC6A1	6529	broad.mit.edu	37	3	11058933	11058933	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:11058933G>T	uc010hdq.2	+	3	447	c.36G>T	c.(34-36)CAG>CAT	p.Q12H		NM_003042	NP_003033	P30531	SC6A1_HUMAN	solute carrier family 6 (neurotransmitter	12	Cytoplasmic (Potential).				neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			ovary(1)|skin(1)	2		Ovarian(110;0.0392)		OV - Ovarian serous cystadenocarcinoma(96;0.00099)	Cocaine(DB00907)|Tiagabine(DB00906)	CCGACGGGCAGATCTCCACCG	0.642		NaN											1	0	5.35356e-11	1	5.5948e-11	23	68				
NUP210	23225	broad.mit.edu	37	3	13383323	13383323	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:13383323G>A	uc003bxv.1	-	23	3236	c.3153C>T	c.(3151-3153)ATC>ATT	p.I1051I		NM_024923	NP_079199	Q8TEM1	PO210_HUMAN	nucleoporin 210 precursor	1051	Lumenal (Probable).				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				ovary(3)|large_intestine(3)|skin(3)|pancreas(1)|liver(1)	11	all_neural(104;0.187)					TGGTCTGGCCGATGGCCACAC	0.522		NaN											0	0	0	1	0	14	50				
ZNF385D	79750	broad.mit.edu	37	3	21462822	21462822	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:21462822G>A	uc003cce.2	-	8	1480	c.1072C>T	c.(1072-1074)CGA>TGA	p.R358*		NM_024697	NP_078973	Q9H6B1	Z385D_HUMAN	zinc finger protein 385D	358						nucleus	nucleic acid binding|zinc ion binding			large_intestine(2)|skin(2)|ovary(1)	5						GGAGCAGTTCGAAGACTGAAG	0.473		NaN											0	0	0	1	0	16	30				
RARB	5915	broad.mit.edu	37	3	25611305	25611305	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:25611305G>A	uc011awl.1	+	4	592	c.526G>A	c.(526-528)GAG>AAG	p.E176K	RARB_uc003cdi.1_Missense_Mutation_p.E57K|RARB_uc003cdh.2_Missense_Mutation_p.E169K	NM_016152	NP_057236	P10826	RARB_HUMAN	retinoic acid receptor, beta isoform 2	176	Hinge.				embryonic digestive tract development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	protein binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			ovary(1)|large_intestine(1)|pancreas(1)	3					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tamibarotene(DB04942)|Tazarotene(DB00799)	AGAATGCACAGAGAGCTATGA	0.488		NaN											0	0	0	1	0	29	89				
NGLY1	55768	broad.mit.edu	37	3	25773930	25773930	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:25773930C>T	uc003cdl.2	-	9	1413	c.1305G>A	c.(1303-1305)CAG>CAA	p.Q435Q	NGLY1_uc010hfg.2_Silent_p.Q417Q|NGLY1_uc003cdm.2_Silent_p.Q435Q|NGLY1_uc011awo.1_Silent_p.Q393Q|NGLY1_uc003cdk.2_RNA	NM_018297	NP_060767	Q96IV0	NGLY1_HUMAN	N-glycanase 1 isoform 1	435					glycoprotein catabolic process	cytoplasm	metal ion binding|peptide-N4-(N-acetyl-beta-glucosaminyl)asparagine amidase activity|protein binding			breast(1)	1						CAATTATCCTCTGGAGAAGTT	0.398		NaN											0	0	0	1	0	20	48				
GADL1	339896	broad.mit.edu	37	3	30880497	30880497	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:30880497G>A	uc003cep.2	-	9	942	c.895C>T	c.(895-897)CAT>TAT	p.H299Y	GADL1_uc003ceq.1_Missense_Mutation_p.H299Y	NM_207359	NP_997242	Q6ZQY3	GADL1_HUMAN	glutamate decarboxylase-like 1	299					carboxylic acid metabolic process		carboxy-lyase activity|pyridoxal phosphate binding				0					Pyridoxal Phosphate(DB00114)	ACATCTACATGAAGCCAGAGG	0.418		NaN											0	0	0	1	0	4	65				
CCR4	1233	broad.mit.edu	37	3	32995455	32995455	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:32995455G>A	uc003cfg.1	+	2	709	c.541G>A	c.(541-543)GAG>AAG	p.E181K		NM_005508	NP_005499	P51679	CCR4_HUMAN	chemokine (C-C motif) receptor 4	181	Extracellular (Potential).				chemotaxis|elevation of cytosolic calcium ion concentration|immune response|inflammatory response	integral to plasma membrane				lung(1)	1						TTGTTATACTGAGCGCAACCA	0.507		NaN											0	0	0	1	0	28	92				
STAC	6769	broad.mit.edu	37	3	36587730	36587730	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:36587730C>T	uc003cgh.1	+	11	1197	c.1158C>T	c.(1156-1158)CTC>CTT	p.L386L	STAC_uc011aya.1_Silent_p.L325L	NM_003149	NP_003140	Q99469	STAC_HUMAN	SH3 and cysteine rich domain	386					intracellular signal transduction	cytoplasm|soluble fraction	metal ion binding			skin(2)|ovary(1)|pancreas(1)	4						TCAGAGTCCTCAGTGGAAAAA	0.438		NaN											0	0	0	1	0	29	88				
TRANK1	9881	broad.mit.edu	37	3	36897001	36897001	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:36897001C>A	uc003cgj.2	-	3	2732	c.2430G>T	c.(2428-2430)CAG>CAT	p.Q810H		NM_014831	NP_055646	O15050	TRNK1_HUMAN	lupus brain antigen 1	1360					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			ovary(1)|central_nervous_system(1)	2						AATAACCTTTCTGGGACCTGA	0.473		NaN											1	0	1.39193e-11	1	1.45645e-11	51	131				
TRANK1	9881	broad.mit.edu	37	3	36897398	36897398	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:36897398C>G	uc003cgj.2	-	3	2335	c.2033G>C	c.(2032-2034)AGA>ACA	p.R678T		NM_014831	NP_055646	O15050	TRNK1_HUMAN	lupus brain antigen 1	1228					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			ovary(1)|central_nervous_system(1)	2						TATGATGGTTCTTTTCAAGCT	0.468		NaN											0	0	0	1	0	52	101				
LRRFIP2	9209	broad.mit.edu	37	3	37107346	37107346	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:37107346G>C	uc003cgp.2	-	24	2077	c.1654C>G	c.(1654-1656)CAG>GAG	p.Q552E	MLH1_uc011aye.1_3'UTR|LRRFIP2_uc011ayf.1_Missense_Mutation_p.Q334E|LRRFIP2_uc003cgr.2_Missense_Mutation_p.Q255E|LRRFIP2_uc003cgs.3_Missense_Mutation_p.Q255E|LRRFIP2_uc003cgt.3_Missense_Mutation_p.Q231E	NM_006309	NP_006300	Q9Y608	LRRF2_HUMAN	leucine rich repeat (in FLII) interacting	552					Wnt receptor signaling pathway		LRR domain binding			ovary(1)	1						GCAGCTTCCTGAGACACAACA	0.483		NaN											0	0	0	1	0	27	84				
DLEC1	9940	broad.mit.edu	37	3	38158112	38158112	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:38158112C>T	uc003cho.1	+	28	4046	c.4025C>T	c.(4024-4026)TCC>TTC	p.S1342F	DLEC1_uc003chp.1_Missense_Mutation_p.S1342F|DLEC1_uc010hgv.1_Missense_Mutation_p.S1345F|DLEC1_uc003chr.1_Missense_Mutation_p.S413F|DLEC1_uc010hgx.1_RNA|DLEC1_uc003chs.1_5'Flank	NM_007335	NP_031361	Q9Y238	DLEC1_HUMAN	deleted in lung and esophageal cancer 1 isoform	1342					negative regulation of cell proliferation	cytoplasm				ovary(2)|pancreas(2)|central_nervous_system(2)|skin(2)|breast(1)	9				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		CCAGGCCCCTCCAGTTCATCG	0.627		NaN											0	0	0	1	0	35	99				
ACAA1	30	broad.mit.edu	37	3	38168124	38168124	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:38168124C>T	uc003cht.2	-	8	901	c.694G>A	c.(694-696)GAT>AAT	p.D232N	ACAA1_uc003chu.2_Missense_Mutation_p.D199N|ACAA1_uc010hgy.2_Missense_Mutation_p.D191N|ACAA1_uc010hgz.2_Missense_Mutation_p.D232N|ACAA1_uc003chv.2_Missense_Mutation_p.D80N	NM_001607	NP_001598	P09110	THIK_HUMAN	acetyl-Coenzyme A acyltransferase 1 isoform a	232					fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy	peroxisomal matrix	acetyl-CoA C-acyltransferase activity|protein binding			ovary(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.0523)|Kidney(284;0.0657)		CCCTTGTCATCATGGACCGTG	0.592		NaN											0	0	0	1	0	30	93				
XYLB	9942	broad.mit.edu	37	3	38404477	38404477	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:38404477C>T	uc003cic.2	+	4	369	c.260C>T	c.(259-261)TCT>TTT	p.S87F	XYLB_uc011ayp.1_Intron|XYLB_uc003cid.1_Missense_Mutation_p.S9F	NM_005108	NP_005099	O75191	XYLB_HUMAN	xylulokinase	87					D-xylose metabolic process|generation of precursor metabolites and energy|xylulose catabolic process		ATP binding|xylulokinase activity			ovary(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.00372)|Kidney(284;0.00405)		TTCGACTTCTCTCAAGTCCTA	0.522		NaN											0	0	0	1	0	20	90				
ZNF619	285267	broad.mit.edu	37	3	40529228	40529228	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:40529228C>T	uc011azb.1	+	6	1625	c.1347C>T	c.(1345-1347)TTC>TTT	p.F449F	ZNF619_uc010hhz.2_Silent_p.F400F|ZNF619_uc003ckj.2_Silent_p.F393F|ZNF619_uc011azc.1_Silent_p.F409F|ZNF619_uc011azd.1_Silent_p.F365F|ZNF619_uc011aza.1_Silent_p.F351F	NM_001145082	NP_001138554	E9PCD9	E9PCD9_HUMAN	zinc finger protein 619 isoform 1	449					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			ovary(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		GGAAAACTTTCAGCTGTAGCT	0.468		NaN											0	0	0	1	0	21	79				
C3orf23	285343	broad.mit.edu	37	3	44442825	44442825	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:44442825G>C	uc010him.2	+	10	1494	c.1249G>C	c.(1249-1251)GAG>CAG	p.E417Q	C3orf23_uc003cnd.3_Missense_Mutation_p.E417Q|C3orf23_uc003cne.3_Missense_Mutation_p.E273Q	NM_173826	NP_776187	Q8N3R3	CC023_HUMAN	hypothetical protein LOC285343 isoform 1	417	Potential.					mitochondrion				upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3				KIRC - Kidney renal clear cell carcinoma(197;0.0468)|Kidney(197;0.0585)		AAGAAAGGAAGAGTAAGTACT	0.398		NaN											0	0	0	1	0	19	55				
CDCP1	64866	broad.mit.edu	37	3	45153662	45153662	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:45153662C>G	uc003com.2	-	3	703	c.568G>C	c.(568-570)GAA>CAA	p.E190Q	CDCP1_uc003con.2_Missense_Mutation_p.E190Q	NM_022842	NP_073753	Q9H5V8	CDCP1_HUMAN	CUB domain-containing protein 1 isoform 1	190	Extracellular (Potential).					extracellular region|integral to membrane|plasma membrane				ovary(1)|central_nervous_system(1)|skin(1)	3				BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651)		TTCACTCCTTCTTGCATCTTG	0.537		NaN											0	0	0	1	0	41	104				
CCR2	729230	broad.mit.edu	37	3	46399402	46399402	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:46399402C>T	uc003cpn.3	+	2	869	c.384C>T	c.(382-384)ATC>ATT	p.I128I	CCR2_uc003cpm.3_Silent_p.I128I	NM_001123041	NP_001116513	P41597	CCR2_HUMAN	chemokine (C-C motif) receptor 2 isoform A	128	Helical; Name=3; (Potential).				astrocyte cell migration|blood vessel remodeling|cellular defense response|chemokine-mediated signaling pathway|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|immune response|inflammatory response|interspecies interaction between organisms|JAK-STAT cascade|monocyte extravasation|negative regulation of adenylate cyclase activity|negative regulation of angiogenesis|negative regulation of eosinophil degranulation|negative regulation of type 2 immune response|positive regulation of alpha-beta T cell proliferation|positive regulation of immune complex clearance by monocytes and macrophages|positive regulation of inflammatory response|positive regulation of interferon-gamma production|positive regulation of interleukin-2 production|positive regulation of monocyte chemotaxis|positive regulation of T cell chemotaxis|positive regulation of T cell extravasation|positive regulation of T-helper 1 type immune response|positive regulation of tumor necrosis factor biosynthetic process|regulation of vascular endothelial growth factor production|T-helper 17 cell chemotaxis	cytosol|dendrite|integral to plasma membrane|perikaryon|perinuclear region of cytoplasm|soluble fraction	C-C chemokine receptor activity|CCR2 chemokine receptor binding|protein homodimerization activity			lung(1)|breast(1)	2				BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0174)|Kidney(197;0.0206)		TTGGCGGAATCTTCTTCATCA	0.468		NaN											0	0	0	1	0	76	274				
LTF	4057	broad.mit.edu	37	3	46492002	46492002	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:46492002G>A	uc003cpq.2	-	7	903	c.865C>T	c.(865-867)CTT>TTT	p.L289F	LTF_uc003fzr.2_Missense_Mutation_p.L245F|LTF_uc010hjh.2_Missense_Mutation_p.L289F|LTF_uc003cpr.2_Missense_Mutation_p.L276F	NM_002343	NP_002334	P02788	TRFL_HUMAN	lactotransferrin precursor	289	Transferrin-like 1.				cellular iron ion homeostasis|defense response to bacterium|humoral immune response|iron ion transport	extracellular region|stored secretory granule	ferric iron binding|heparin binding|protein binding|serine-type endopeptidase activity			central_nervous_system(2)|ovary(1)|lung(1)	4				all cancers(1;7.55e-14)|GBM - Glioblastoma multiforme(1;2.1e-09)|Epithelial(1;9.25e-07)|Colorectal(1;3.81e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00129)|COAD - Colon adenocarcinoma(1;0.00308)|KIRC - Kidney renal clear cell carcinoma(197;0.0205)|Kidney(197;0.0242)|OV - Ovarian serous cystadenocarcinoma(275;0.089)	Pefloxacin(DB00487)	TGGCGGAGAAGATTCCAGATG	0.562		NaN											0	0	0	1	0	9	27				
PRSS50	29122	broad.mit.edu	37	3	46753882	46753882	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:46753882C>T	uc003cqe.1	-	6	1071	c.1012G>A	c.(1012-1014)GAG>AAG	p.E338K	PRSS50_uc003cqf.1_Missense_Mutation_p.E252K	NM_013270	NP_037402	Q9UI38	TSP50_HUMAN	testes-specific protease 50 precursor	338	Peptidase S1.				proteolysis	endoplasmic reticulum	serine-type endopeptidase activity|threonine-type endopeptidase activity				0						GGTGGGGCCTCGCTCTTCTGG	0.637		NaN											0	0	0	1	0	15	48				
KLHL18	23276	broad.mit.edu	37	3	47384267	47384267	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:47384267G>C	uc003crd.2	+	9	1411	c.1285G>C	c.(1285-1287)GAG>CAG	p.E429Q	KLHL18_uc011bav.1_Missense_Mutation_p.E317Q	NM_025010	NP_079286	O94889	KLH18_HUMAN	kelch-like 18	429	Kelch 3.										0		Acute lymphoblastic leukemia(5;0.164)		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00645)|Kidney(197;0.00741)		TACAGTCTTTGAGGGCAGGAT	0.512		NaN											0	0	0	1	0	22	53				
DHX30	22907	broad.mit.edu	37	3	47868907	47868907	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:47868907C>T	uc003cru.2	+	5	621	c.195C>T	c.(193-195)CTC>CTT	p.L65L	DHX30_uc003crs.2_Silent_p.L26L|DHX30_uc003crt.2_Silent_p.L26L|DHX30_uc010hjr.1_Silent_p.L93L	NM_138615	NP_619520	Q7L2E3	DHX30_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 30	65	DRBM.					mitochondrial nucleoid	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding			ovary(2)|skin(2)	4				BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		GAAGAGCCCTCGGCATCTCAC	0.418		NaN											0	0	0	1	0	23	59				
COL7A1	1294	broad.mit.edu	37	3	48603971	48603971	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:48603971C>G	uc003ctz.2	-	112	8331	c.8330G>C	c.(8329-8331)CGA>CCA	p.R2777P	UCN2_uc003cty.1_5'Flank	NM_000094	NP_000085	Q02388	CO7A1_HUMAN	alpha 1 type VII collagen precursor	2777	Triple-helical region.				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			ovary(4)|breast(3)|skin(3)|central_nervous_system(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CTTCTCGCCTCGAGGACCGGC	0.473		NaN											0	0	0	1	0	44	142				
COL7A1	1294	broad.mit.edu	37	3	48613150	48613150	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:48613150C>G	uc003ctz.2	-	72	5889	c.5888G>C	c.(5887-5889)TGG>TCG	p.W1963S		NM_000094	NP_000085	Q02388	CO7A1_HUMAN	alpha 1 type VII collagen precursor	1963	Triple-helical region.				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			ovary(4)|breast(3)|skin(3)|central_nervous_system(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GCTCTCATCCCAGGTCTCCAC	0.667		NaN											0	0	0	1	0	20	89				
PRKAR2A	5576	broad.mit.edu	37	3	48884791	48884791	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:48884791G>A	uc010hki.1	-	1	480	c.239C>T	c.(238-240)TCG>TTG	p.S80L	PRKAR2A_uc003cux.1_Missense_Mutation_p.S80L|PRKAR2A_uc003cuy.1_Missense_Mutation_p.S80L|uc003cuz.1_5'Flank	NM_004157	NP_004148	P13861	KAP2_HUMAN	cAMP-dependent protein kinase, regulatory	80	Dimerization and phosphorylation.				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|intracellular signal transduction|nerve growth factor receptor signaling pathway|regulation of insulin secretion|transmembrane transport|water transport	centrosome|cytosol|membrane fraction	cAMP binding|cAMP-dependent protein kinase regulator activity			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.000176)|Kidney(197;0.00246)|KIRC - Kidney renal clear cell carcinoma(197;0.00261)		GTCCTCCTCCGACTCGCTGTC	0.716		NaN											0	0	0	1	0	14	27				
PRKAR2A	5576	broad.mit.edu	37	3	48884887	48884887	+	Nonsense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:48884887G>C	uc010hki.1	-	1	384	c.143C>G	c.(142-144)TCA>TGA	p.S48*	PRKAR2A_uc003cux.1_Nonsense_Mutation_p.S48*|PRKAR2A_uc003cuy.1_Nonsense_Mutation_p.S48*|uc003cuz.1_5'Flank	NM_004157	NP_004148	P13861	KAP2_HUMAN	cAMP-dependent protein kinase, regulatory	48	Dimerization and phosphorylation.				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|intracellular signal transduction|nerve growth factor receptor signaling pathway|regulation of insulin secretion|transmembrane transport|water transport	centrosome|cytosol|membrane fraction	cAMP binding|cAMP-dependent protein kinase regulator activity			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.000176)|Kidney(197;0.00246)|KIRC - Kidney renal clear cell carcinoma(197;0.00261)		GGGCAGGACTGAGGCTGGGGC	0.726		NaN											0	0	0	1	0	6	11				
P4HTM	54681	broad.mit.edu	37	3	49027929	49027929	+	Silent	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:49027929C>G	uc003cvg.2	+	1	589	c.240C>G	c.(238-240)CTC>CTG	p.L80L	P4HTM_uc003cvh.2_Silent_p.L80L	NM_177939	NP_808808	Q9NXG6	P4HTM_HUMAN	hypoxia-inducible factor prolyl 4-hydroxylase	80	Helical; Signal-anchor for type II membrane protein; (Potential).					endoplasmic reticulum membrane|integral to membrane	calcium ion binding|iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			skin(1)|pancreas(1)	2					Vitamin C(DB00126)	CGCTGCTGCTCTTCGTGCACT	0.682		NaN											0	0	0	1	0	14	33				
WDR6	11180	broad.mit.edu	37	3	49050213	49050213	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:49050213C>T	uc003cvj.2	+	2	1474	c.1336C>T	c.(1336-1338)CGT>TGT	p.R446C	WDR6_uc011bbx.1_Missense_Mutation_p.R317C|WDR6_uc011bby.1_Intron|WDR6_uc010hkn.2_Missense_Mutation_p.R390C|WDR6_uc011bbz.1_Missense_Mutation_p.R365C	NM_018031	NP_060501	Q9NNW5	WDR6_HUMAN	WD repeat domain 6 protein	416					cell cycle arrest|negative regulation of cell proliferation	cytoplasm				central_nervous_system(1)	1				Kidney(197;9.12e-07)|KIRC - Kidney renal clear cell carcinoma(197;1.32e-05)|BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000155)		TGGGGAAGGTCGTGTCAAGGT	0.572		NaN											0	0	0	1	0	10	49				
LAMB2	3913	broad.mit.edu	37	3	49160696	49160696	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:49160696G>A	uc003cwe.2	-	26	4392	c.4093C>T	c.(4093-4095)CGG>TGG	p.R1365W	USP19_uc003cvz.3_5'Flank|USP19_uc011bcg.1_5'Flank|USP19_uc003cwb.2_5'Flank|USP19_uc003cwd.1_5'Flank|USP19_uc011bch.1_5'Flank|USP19_uc011bci.1_5'Flank	NM_002292	NP_002283	P55268	LAMB2_HUMAN	laminin, beta 2 precursor	1365	Domain II.				cell adhesion	laminin-11 complex|laminin-3 complex	structural molecule activity			ovary(3)	3				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		GTCCGATGCCGAGCACTTGCC	0.587		NaN											0	0	0	1	0	41	124				
KLHDC8B	200942	broad.mit.edu	37	3	49212219	49212219	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:49212219G>C	uc003cwh.2	+	4	771	c.586G>C	c.(586-588)GAT>CAT	p.D196H	KLHDC8B_uc003cwi.1_Missense_Mutation_p.D69H	NM_173546	NP_775817	Q8IXV7	KLD8B_HUMAN	kelch domain containing 8B	196	Kelch 5.					cytoplasm					0				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00217)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		TGAAGCCTTTGATCTGGAGGC	0.632		NaN											0	0	0	1	0	22	58				
DAG1	1605	broad.mit.edu	37	3	49569108	49569108	+	Silent	SNP	T	T	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:49569108T>C	uc003cxc.3	+	3	1582	c.1164T>C	c.(1162-1164)ACT>ACC	p.T388T		NM_004393	NP_004384	Q14118	DAG1_HUMAN	dystroglycan 1 preproprotein	388	Thr-rich.|Required for laminin recognition.|Mucin-like domain.				cytoskeletal anchoring at plasma membrane|interspecies interaction between organisms|microtubule anchoring|negative regulation of cell migration|negative regulation of MAPKKK cascade|negative regulation of protein kinase B signaling cascade	basement membrane|contractile ring|cytoplasm|cytoskeleton|dystrophin-associated glycoprotein complex|extracellular space|filopodium|integral to membrane|integral to membrane of membrane fraction|lamellipodium|nucleoplasm	actin binding|alpha-actinin binding|calcium ion binding|laminin-1 binding|receptor activity|structural constituent of muscle|tubulin binding|vinculin binding			ovary(2)	2				BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.00241)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		TCCAGCCTACTCGGGTGTCAG	0.587		NaN											0	0	0	1	0	59	152				
IP6K1	9807	broad.mit.edu	37	3	49770264	49770264	+	Silent	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:49770264C>G	uc003cxm.1	-	4	891	c.576G>C	c.(574-576)CTG>CTC	p.L192L	IP6K1_uc003cxn.1_Silent_p.L27L|IP6K1_uc011bcv.1_Silent_p.L27L|IP6K1_uc003cxo.2_Silent_p.L192L	NM_153273	NP_695005	Q92551	IP6K1_HUMAN	inositol hexakisphosphate kinase 1 isoform 1	192					phosphatidylinositol phosphorylation	cytoplasm|nucleus	ATP binding|inositol hexakisphosphate 5-kinase activity|inositol trisphosphate 3-kinase activity				0						GCATGCGGCTCAGCTGCTGCT	0.567		NaN											0	0	0	1	0	25	53				
PBRM1	55193	broad.mit.edu	37	3	52582190	52582190	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:52582190C>T	uc003des.2	-	30	4971	c.4959G>A	c.(4957-4959)CTG>CTA	p.L1653L	PBRM1_uc003dex.2_RNA|PBRM1_uc003deq.2_Silent_p.L1546L|PBRM1_uc003der.2_Silent_p.L1566L|PBRM1_uc003det.2_Silent_p.L1561L|PBRM1_uc003deu.2_Silent_p.L1616L|PBRM1_uc003dev.2_RNA|PBRM1_uc003dew.2_Silent_p.L1598L|PBRM1_uc010hmk.1_Silent_p.L1573L|PBRM1_uc003dey.2_Silent_p.L1546L	NM_181042	NP_060635	Q86U86	PB1_HUMAN	polybromo 1 isoform 4	1653					chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	chromatin binding|DNA binding|protein binding			kidney(136)|breast(4)	140				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		CTTTGCTTTTCAGCCAGTGAG	0.507		NaN	Mis|N|F|S|D|O		clear cell renal carcinoma|breast								0	0	0	1	0	46	121				
PBRM1	55193	broad.mit.edu	37	3	52620683	52620683	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:52620683C>T	uc003des.2	-	20	3157	c.3145G>A	c.(3145-3147)GAA>AAA	p.E1049K	PBRM1_uc003dex.2_RNA|PBRM1_uc003deq.2_Missense_Mutation_p.E1049K|PBRM1_uc003der.2_Missense_Mutation_p.E1017K|PBRM1_uc003det.2_Missense_Mutation_p.E1064K|PBRM1_uc003deu.2_Missense_Mutation_p.E1064K|PBRM1_uc003dev.2_RNA|PBRM1_uc003dew.2_Missense_Mutation_p.E1049K|PBRM1_uc010hmk.1_Missense_Mutation_p.E1024K|PBRM1_uc003dey.2_Missense_Mutation_p.E1024K|PBRM1_uc003dez.1_Missense_Mutation_p.E1048K|PBRM1_uc003dfb.1_Missense_Mutation_p.E961K|PBRM1_uc003dfa.1_Missense_Mutation_p.E395K	NM_181042	NP_060635	Q86U86	PB1_HUMAN	polybromo 1 isoform 4	1049	BAH 1.				chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	chromatin binding|DNA binding|protein binding			kidney(136)|breast(4)	140				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		CGGAAGTTTTCTGGGCATAAC	0.358		NaN	Mis|N|F|S|D|O		clear cell renal carcinoma|breast								0	0	0	1	0	14	66				
PBRM1	55193	broad.mit.edu	37	3	52621527	52621527	+	Splice_Site	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:52621527C>G	uc003des.2	-	19	2978	c.2966_splice	c.e19-1	p.G989_splice	PBRM1_uc003dex.2_Splice_Site|PBRM1_uc003deq.2_Splice_Site_p.G989_splice|PBRM1_uc003der.2_Splice_Site_p.G957_splice|PBRM1_uc003det.2_Splice_Site_p.G1004_splice|PBRM1_uc003deu.2_Splice_Site_p.G1004_splice|PBRM1_uc003dev.2_Splice_Site|PBRM1_uc003dew.2_Splice_Site_p.G989_splice|PBRM1_uc010hmk.1_Intron|PBRM1_uc003dey.2_Intron|PBRM1_uc003dez.1_Splice_Site_p.G988_splice|PBRM1_uc003dfb.1_Splice_Site_p.G901_splice|PBRM1_uc003dfa.1_Splice_Site_p.G335_splice	NM_181042	NP_060635	Q86U86	PB1_HUMAN	polybromo 1 isoform 4						chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	chromatin binding|DNA binding|protein binding			kidney(136)|breast(4)	140				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		CATTTTTCACCTCAAAAATGG	0.313		NaN	Mis|N|F|S|D|O		clear cell renal carcinoma|breast								0	0	0	1	0	13	57				
ACTR8	93973	broad.mit.edu	37	3	53908249	53908249	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:53908249G>C	uc003dhd.2	-	8	1113	c.1054C>G	c.(1054-1056)CAT>GAT	p.H352D	ACTR8_uc003dhb.2_Intron|ACTR8_uc003dhc.2_Missense_Mutation_p.H241D	NM_022899	NP_075050	Q9H981	ARP8_HUMAN	actin-related protein 8	352					cell division|DNA recombination|DNA repair|mitosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ino80 complex	protein binding			ovary(1)|central_nervous_system(1)	2				BRCA - Breast invasive adenocarcinoma(193;0.000143)|KIRC - Kidney renal clear cell carcinoma(284;0.00544)|Kidney(284;0.00607)|OV - Ovarian serous cystadenocarcinoma(275;0.111)		TGATCTAAATGACAAAAAGTT	0.328		NaN											0	0	0	1	0	16	39				
PDE12	201626	broad.mit.edu	37	3	57545645	57545645	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:57545645G>A	uc003diw.3	+	3	1870	c.1744G>A	c.(1744-1746)GAA>AAA	p.E582K	PDE12_uc003div.2_3'UTR	NM_177966	NP_808881	Q6L8Q7	PDE12_HUMAN	phosphodiesterase 12	582							hydrolase activity				0				KIRC - Kidney renal clear cell carcinoma(284;0.011)|Kidney(284;0.0127)		ACCTAGTCATGAAGAAGTTAC	0.373		NaN											0	0	0	1	0	37	110				
CADPS	8618	broad.mit.edu	37	3	62501761	62501761	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:62501761G>A	uc003dll.2	-	16	2914	c.2554C>T	c.(2554-2556)CGG>TGG	p.R852W	CADPS_uc003dlk.1_Missense_Mutation_p.R356W|CADPS_uc003dlm.2_Missense_Mutation_p.R852W|CADPS_uc003dln.2_Missense_Mutation_p.R835W	NM_003716	NP_003707	Q9ULU8	CAPS1_HUMAN	Ca2+-dependent secretion activator isoform 1	852	Interaction with DRD2.				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding			central_nervous_system(2)|ovary(1)	3		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		TCTGAGAGCCGAGAATAGTTG	0.433		NaN											0	0	0	1	0	22	61				
MAGI1	9223	broad.mit.edu	37	3	65464309	65464309	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:65464309C>T	uc003dmn.2	-	4	1241	c.715G>A	c.(715-717)GAG>AAG	p.E239K	MAGI1_uc003dmm.2_Missense_Mutation_p.E239K|MAGI1_uc003dmo.2_Missense_Mutation_p.E239K|MAGI1_uc003dmp.2_Missense_Mutation_p.E239K|MAGI1_uc010hny.2_Missense_Mutation_p.E123K|MAGI1_uc003dmr.2_Missense_Mutation_p.E239K	NM_001033057	NP_001028229	Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ	239	Guanylate kinase-like.				cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding			lung(2)|skin(1)|breast(1)|kidney(1)|pancreas(1)	6		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		TCCTCCTCCTCATTCTCCGCG	0.517		NaN											0	0	0	1	0	26	109				
LRIG1	26018	broad.mit.edu	37	3	66433416	66433416	+	Silent	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:66433416G>C	uc003dmx.2	-	15	2495	c.2481C>G	c.(2479-2481)GTC>GTG	p.V827V	SLC25A26_uc011bft.1_Intron|LRIG1_uc011bfu.1_Silent_p.V447V|LRIG1_uc003dmw.2_Silent_p.V493V|LRIG1_uc010hnz.2_Silent_p.V543V|LRIG1_uc010hoa.2_Silent_p.V804V	NM_015541	NP_056356	Q96JA1	LRIG1_HUMAN	leucine-rich repeats and immunoglobulin-like	827	Cytoplasmic (Potential).					integral to membrane				skin(3)|ovary(2)	5		Lung NSC(201;0.0101)		BRCA - Breast invasive adenocarcinoma(55;0.00047)		CTGTGTTGGTGACACTGTACT	0.557		NaN											0	0	0	1	0	13	51				
KBTBD8	84541	broad.mit.edu	37	3	67049613	67049613	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:67049613C>T	uc003dmy.2	+	2	278	c.225C>T	c.(223-225)TTC>TTT	p.F75F	KBTBD8_uc011bfv.1_Intron	NM_032505	NP_115894	Q8NFY9	KBTB8_HUMAN	T-cell activation kelch repeat protein	75	BTB.									ovary(2)|large_intestine(1)|breast(1)	4		Lung NSC(201;0.0765)		BRCA - Breast invasive adenocarcinoma(55;6.02e-06)|KIRC - Kidney renal clear cell carcinoma(39;0.105)|Kidney(39;0.125)		GCCCTTACTTCAGGTATGATG	0.428		NaN											0	0	0	1	0	28	98				
MITF	4286	broad.mit.edu	37	3	70005608	70005608	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:70005608G>C	uc003dnz.2	+	8	1056	c.940G>C	c.(940-942)GAA>CAA	p.E314Q	MITF_uc011bgb.1_Missense_Mutation_p.E262Q|MITF_uc003doa.2_Missense_Mutation_p.E313Q|MITF_uc003dob.2_Missense_Mutation_p.E298Q|MITF_uc003dod.2_Missense_Mutation_p.E289Q|MITF_uc003doe.2_Missense_Mutation_p.E207Q|MITF_uc003dof.2_Missense_Mutation_p.E213Q	NM_198159	NP_937802	O75030	MITF_HUMAN	microphthalmia-associated transcription factor	320	Basic motif.				melanocyte differentiation|multicellular organismal development|protein complex assembly	nucleus|protein complex	DNA binding|protein binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription			ovary(2)	2		Lung NSC(201;0.0384)|Prostate(884;0.0526)		BRCA - Breast invasive adenocarcinoma(55;3.07e-05)|Epithelial(33;0.000138)|LUSC - Lung squamous cell carcinoma(21;0.008)|Lung(16;0.0107)|KIRC - Kidney renal clear cell carcinoma(39;0.204)|Kidney(39;0.239)		TCTTGAAGTTGAACGAAGAAG	0.383		NaN	A		melanoma 		Waardenburg syndrome type 2|Tietz syndrome						0	0	0	1	0	9	30				
ROBO1	6091	broad.mit.edu	37	3	78649360	78649360	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:78649360C>G	uc003dqe.2	-	30	5052	c.4844G>C	c.(4843-4845)AGA>ACA	p.R1615T	ROBO1_uc003dqb.2_Missense_Mutation_p.R1576T|ROBO1_uc003dqc.2_Missense_Mutation_p.R1515T|ROBO1_uc003dqd.2_Missense_Mutation_p.R1570T|ROBO1_uc010hoh.2_Missense_Mutation_p.R807T	NM_002941	NP_002932	Q9Y6N7	ROBO1_HUMAN	roundabout 1 isoform a	1615	Cytoplasmic (Potential).				activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway	cell surface|cytoplasm|integral to plasma membrane	axon guidance receptor activity|identical protein binding|LRR domain binding			large_intestine(2)	2		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		TTCTCTTTGTCTGCTTCCTGA	0.383		NaN											0	0	0	1	0	14	39				
OR5K3	403277	broad.mit.edu	37	3	98109713	98109713	+	Silent	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:98109713G>C	uc011bgw.1	+	1	204	c.204G>C	c.(202-204)CTG>CTC	p.L68L		NM_001005516	NP_001005516	A6NET4	OR5K3_HUMAN	olfactory receptor, family 5, subfamily K,	68	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0						ACCTAGTTCTGATGGATTCCT	0.398		NaN											0	0	0	1	0	52	209				
BBX	56987	broad.mit.edu	37	3	107524303	107524303	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:107524303G>A	uc010hpr.2	+	18	3152	c.2825G>A	c.(2824-2826)TGA>TAA	p.*942*	BBX_uc003dwk.3_Silent_p.*912*|BBX_uc003dwl.3_Missense_Mutation_p.E606K|BBX_uc003dwm.3_Silent_p.*912*|BBX_uc003dwo.3_Missense_Mutation_p.E259K	NM_001142568	NP_001136040	Q8WY36	BBX_HUMAN	HMG-BOX transcription factor BBX isoform 1	942					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			ovary(3)|skin(1)	4			OV - Ovarian serous cystadenocarcinoma(3;0.112)			GCTGACCAGTGAAGCGCCCTT	0.468		NaN											0	0	0	1	0	21	88				
DZIP3	9666	broad.mit.edu	37	3	108380728	108380728	+	Missense_Mutation	SNP	C	C	T	rs139764708		TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:108380728C>T	uc003dxd.2	+	20	2626	c.2204C>T	c.(2203-2205)TCA>TTA	p.S735L	DZIP3_uc003dxf.1_Missense_Mutation_p.S735L|DZIP3_uc011bhm.1_Missense_Mutation_p.S186L	NM_014648	NP_055463	Q86Y13	DZIP3_HUMAN	DAZ interacting protein 3, zinc finger	735					protein polyubiquitination	cytoplasm	polyubiquitin binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2						CAATAGGGCTCAGCTGGCAAA	0.358		NaN											0	0	0	1	0	10	21				
DZIP3	9666	broad.mit.edu	37	3	108403160	108403160	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:108403160C>T	uc003dxd.2	+	27	3403	c.2981C>T	c.(2980-2982)TCT>TTT	p.S994F	DZIP3_uc003dxf.1_Missense_Mutation_p.S994F|DZIP3_uc011bhm.1_Missense_Mutation_p.S445F	NM_014648	NP_055463	Q86Y13	DZIP3_HUMAN	DAZ interacting protein 3, zinc finger	994					protein polyubiquitination	cytoplasm	polyubiquitin binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2						GGAGTCGTCTCTGCAACTGGC	0.433		NaN											0	0	0	1	0	48	222				
TRAT1	50852	broad.mit.edu	37	3	108572556	108572556	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:108572556C>G	uc003dxi.1	+	6	537	c.393C>G	c.(391-393)TTC>TTG	p.F131L	TRAT1_uc010hpx.1_Missense_Mutation_p.F94L	NM_016388	NP_057472	Q6PIZ9	TRAT1_HUMAN	T-cell receptor interacting molecule	131	Cytoplasmic (Potential).				cellular defense response|negative regulation of receptor recycling|negative regulation of transport|positive regulation of calcium-mediated signaling|positive regulation of T cell receptor signaling pathway|T cell receptor signaling pathway	integral to plasma membrane|T cell receptor complex	phosphatidylinositol-4,5-bisphosphate 3-kinase activity|transmembrane receptor protein tyrosine kinase adaptor activity			skin(1)	1						ATACTCATTTCTCAGACAAGG	0.463		NaN											0	0	0	1	0	13	59				
MORC1	27136	broad.mit.edu	37	3	108724086	108724086	+	Nonsense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:108724086G>C	uc003dxl.2	-	19	1931	c.1844C>G	c.(1843-1845)TCA>TGA	p.S615*	MORC1_uc011bhn.1_Nonsense_Mutation_p.S594*	NM_014429	NP_055244	Q86VD1	MORC1_HUMAN	MORC family CW-type zinc finger 1	615					cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding			ovary(3)|skin(3)|breast(2)	8						ACGGCTCGCTGAAAGCTCAAA	0.358		NaN											0	0	0	1	0	6	35				
SIDT1	54847	broad.mit.edu	37	3	113300209	113300209	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:113300209G>A	uc003eak.2	+	6	1316	c.665G>A	c.(664-666)TGC>TAC	p.C222Y	SIDT1_uc011bif.1_RNA|SIDT1_uc003eaj.1_Missense_Mutation_p.C222Y|SIDT1_uc011big.1_5'UTR	NM_017699	NP_060169	Q9NXL6	SIDT1_HUMAN	SID1 transmembrane family, member 1 precursor	222	Extracellular (Potential).					integral to membrane				ovary(3)|pancreas(1)|skin(1)	5						ATGCTGCAGTGCCCGGTGTAT	0.463		NaN											0	0	0	1	0	15	39				
GRAMD1C	54762	broad.mit.edu	37	3	113627832	113627832	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:113627832G>A	uc003eaq.3	+	9	893	c.817G>A	c.(817-819)GAG>AAG	p.E273K	GRAMD1C_uc011bil.1_RNA|GRAMD1C_uc011bim.1_RNA|GRAMD1C_uc003ear.2_Missense_Mutation_p.E106K|GRAMD1C_uc003eas.2_Missense_Mutation_p.E68K	NM_017577	NP_060047	Q8IYS0	GRM1C_HUMAN	GRAM domain containing 1C	273						integral to membrane				ovary(2)|skin(1)	3						GTCCCAAAATGAGAAACAGAC	0.338		NaN											0	0	0	1	0	12	29				
ZNF80	7634	broad.mit.edu	37	3	113955831	113955831	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:113955831C>T	uc010hqo.2	-	1	595	c.91G>A	c.(91-93)GAA>AAA	p.E31K	ZNF80_uc003ebf.2_RNA	NM_007136	NP_009067	P51504	ZNF80_HUMAN	zinc finger protein 80	31						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		Lung NSC(201;0.0233)|all_neural(597;0.0837)				GAGTCACATTCATGGAGATTG	0.507		NaN											0	0	0	1	0	18	90				
C3orf30	152405	broad.mit.edu	37	3	118865552	118865552	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:118865552G>C	uc003ecb.1	+	1	556	c.516G>C	c.(514-516)CAG>CAC	p.Q172H	IGSF11_uc003eby.2_5'Flank|IGSF11_uc003ebz.2_5'Flank|IGSF11_uc010hqs.2_5'Flank|C3orf30_uc011biw.1_Missense_Mutation_p.Q172H	NM_152539	NP_689752	Q96M34	CC030_HUMAN	hypothetical protein LOC152405	172										ovary(2)	2				GBM - Glioblastoma multiforme(114;0.222)		CATCTGACCAGAGAGGTTCCA	0.527		NaN											0	0	0	1	0	24	80				
C3orf15	89876	broad.mit.edu	37	3	119469912	119469912	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:119469912G>A	uc003ede.3	+	17	2349	c.2272G>A	c.(2272-2274)GAG>AAG	p.E758K	C3orf15_uc010hqz.2_Missense_Mutation_p.E696K|C3orf15_uc011bjd.1_Missense_Mutation_p.E632K|C3orf15_uc011bje.1_Missense_Mutation_p.E738K|C3orf15_uc003edg.3_RNA|C3orf15_uc003edh.3_RNA	NM_033364	NP_203528	Q7Z4T9	AAT1_HUMAN	AAT1-alpha	594						mitochondrion	protein binding			ovary(2)|pancreas(1)	3				GBM - Glioblastoma multiforme(114;0.186)		CATGTTACTTGAGAAAGAAAC	0.418		NaN											0	0	0	1	0	16	62				
POLQ	10721	broad.mit.edu	37	3	121207035	121207035	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:121207035C>T	uc003eee.3	-	16	4872	c.4743G>A	c.(4741-4743)AAG>AAA	p.K1581K	POLQ_uc003eed.2_Silent_p.K753K	NM_199420	NP_955452	O75417	DPOLQ_HUMAN	DNA polymerase theta	1581					DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity			ovary(4)|breast(3)|lung(2)|upper_aerodigestive_tract(1)|skin(1)	11				GBM - Glioblastoma multiforme(114;0.0915)		CAGTATGATTCTTCTCTTGGA	0.383		NaN						DNA_polymerases_(catalytic_subunits)					0	0	0	1	0	29	83				
IQCB1	9657	broad.mit.edu	37	3	121547358	121547358	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:121547358C>T	uc010hre.1	-	4	437	c.222G>A	c.(220-222)CAG>CAA	p.Q74Q	IQCB1_uc003eek.2_Silent_p.Q74Q|IQCB1_uc010hrf.1_RNA	NM_001023570	NP_001018864	Q15051	IQCB1_HUMAN	IQ motif containing B1 isoform a	74					cilium assembly|maintenance of organ identity|photoreceptor cell maintenance	centrosome|photoreceptor connecting cilium	calmodulin binding				0				GBM - Glioblastoma multiforme(114;0.0983)		TCCAACCACCCTGGATTCGAG	0.363		NaN											0	0	0	1	0	16	50				
IQCB1	9657	broad.mit.edu	37	3	121547744	121547744	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:121547744C>G	uc010hre.1	-	3	279	c.64G>C	c.(64-66)GAG>CAG	p.E22Q	IQCB1_uc003eek.2_Missense_Mutation_p.E22Q|IQCB1_uc010hrf.1_RNA	NM_001023570	NP_001018864	Q15051	IQCB1_HUMAN	IQ motif containing B1 isoform a	22					cilium assembly|maintenance of organ identity|photoreceptor cell maintenance	centrosome|photoreceptor connecting cilium	calmodulin binding				0				GBM - Glioblastoma multiforme(114;0.0983)		ACATTCTGCTCAGGGCTTTTT	0.348		NaN											0	0	0	1	0	8	38				
IQCB1	9657	broad.mit.edu	37	3	121547781	121547781	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:121547781C>A	uc010hre.1	-	3	242	c.27G>T	c.(25-27)AGG>AGT	p.R9S	IQCB1_uc003eek.2_Missense_Mutation_p.R9S|IQCB1_uc010hrf.1_RNA	NM_001023570	NP_001018864	Q15051	IQCB1_HUMAN	IQ motif containing B1 isoform a	9					cilium assembly|maintenance of organ identity|photoreceptor cell maintenance	centrosome|photoreceptor connecting cilium	calmodulin binding				0				GBM - Glioblastoma multiforme(114;0.0983)		TAGATAAGATCCTTGGGTCTG	0.348		NaN											1	0	0.00116845	1	0.001181	6	40				
KALRN	8997	broad.mit.edu	37	3	123987853	123987853	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:123987853G>A	uc003ehg.2	+	5	841	c.714G>A	c.(712-714)CTG>CTA	p.L238L	KALRN_uc010hrv.1_Silent_p.L238L|KALRN_uc003ehf.1_Silent_p.L238L|KALRN_uc011bjy.1_Silent_p.L238L	NM_001024660	NP_001019831	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase isoform 1	238	Spectrin 1.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			large_intestine(2)|ovary(2)|central_nervous_system(1)|skin(1)	6						AAAAGGTGCTGAAGGCCCCTG	0.627		NaN											0	0	0	1	0	11	32				
PLXNA1	5361	broad.mit.edu	37	3	126722265	126722265	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:126722265C>T	uc003ejg.2	+	3	1405	c.1401C>T	c.(1399-1401)CTC>CTT	p.L467L		NM_032242	NP_115618	Q9UIW2	PLXA1_HUMAN	plexin A1	490	Sema.|Extracellular (Potential).				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity			ovary(1)|pancreas(1)|skin(1)	3				GBM - Glioblastoma multiforme(114;0.155)		TGCGAGACCTCGTCCTCAGCC	0.672		NaN											0	0	0	1	0	25	63				
PIK3R4	30849	broad.mit.edu	37	3	130464012	130464012	+	Missense_Mutation	SNP	C	C	G	rs143147652		TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:130464012C>G	uc003enj.2	-	2	632	c.51G>C	c.(49-51)GAG>GAC	p.E17D		NM_014602	NP_055417	Q99570	PI3R4_HUMAN	phosphoinositide-3-kinase, regulatory subunit 4	17					fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway	cytosol	ATP binding|protein binding|protein serine/threonine kinase activity			ovary(3)|lung(2)|breast(2)|skin(2)|stomach(1)|central_nervous_system(1)|kidney(1)	12						AAAAATAACTCTCTACAGAAA	0.438		NaN											0	0	0	1	0	15	40				
ACPP	55	broad.mit.edu	37	3	132051183	132051183	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:132051183G>T	uc010htp.2	+	4	541	c.451G>T	c.(451-453)GAT>TAT	p.D151Y	ACPP_uc003eon.3_Missense_Mutation_p.D151Y|ACPP_uc003eop.3_Missense_Mutation_p.D151Y	NM_001099	NP_001090	P15309	PPAP_HUMAN	acid phosphatase, prostate short isoform	151						extracellular region|lysosomal membrane	5'-nucleotidase activity|acid phosphatase activity			ovary(1)	1						TCTTTCTGAAGATCAGGTCAG	0.517		NaN											1	0	6.40141e-05	1	6.50516e-05	12	44				
AMOTL2	51421	broad.mit.edu	37	3	134080563	134080563	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:134080563C>T	uc003eqf.2	-	6	1657	c.1540G>A	c.(1540-1542)GAG>AAG	p.E514K	AMOTL2_uc003eqg.1_Missense_Mutation_p.E456K|AMOTL2_uc003eqh.1_Missense_Mutation_p.E456K|AMOTL2_uc003eqe.1_Missense_Mutation_p.E81K	NM_016201	NP_057285	Q9Y2J4	AMOL2_HUMAN	angiomotin like 2	456	Potential.									large_intestine(1)	1						TCCAGCAGCTCGGCACGCCGC	0.652		NaN											0	0	0	1	0	13	33				
PPP2R3A	5523	broad.mit.edu	37	3	135720716	135720716	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:135720716G>C	uc003eqv.1	+	2	941	c.376G>C	c.(376-378)GAA>CAA	p.E126Q	PPP2R3A_uc011blz.1_Intron	NM_002718	NP_002709	Q06190	P2R3A_HUMAN	protein phosphatase 2, regulatory subunit B'',	126					protein dephosphorylation	protein phosphatase type 2A complex	calcium ion binding|protein binding|protein phosphatase type 2A regulator activity			ovary(3)|pancreas(1)|lung(1)|breast(1)|skin(1)	7						GAAAATAAAAGAATTTTCCTT	0.378		NaN											0	0	0	1	0	5	27				
ZBTB38	253461	broad.mit.edu	37	3	141161785	141161785	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:141161785G>C	uc003etw.2	+	8	1537	c.555G>C	c.(553-555)TTG>TTC	p.L185F	ZBTB38_uc010hun.2_Missense_Mutation_p.L182F|ZBTB38_uc010huo.2_Missense_Mutation_p.L185F|ZBTB38_uc003ety.2_Missense_Mutation_p.L185F|ZBTB38_uc010hup.2_Missense_Mutation_p.L186F	NM_001080412	NP_001073881	Q8NAP3	ZBT38_HUMAN	zinc finger and BTB domain containing 38	185					positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(3)	3						CGCTGGACTTGAGGGCAAGTT	0.498		NaN											0	0	0	1	0	24	122				
RASA2	5922	broad.mit.edu	37	3	141272699	141272699	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:141272699C>T	uc003etz.1	+	6	528	c.528C>T	c.(526-528)CAC>CAT	p.H176H	RASA2_uc010huq.1_Silent_p.H176H|RASA2_uc003eua.1_Silent_p.H176H|RASA2_uc011bnc.1_5'UTR	NM_006506	NP_006497	Q15283	RASA2_HUMAN	RAS p21 protein activator 2	176	C2 2.				intracellular signal transduction|negative regulation of Ras protein signal transduction	intracellular membrane-bounded organelle|intrinsic to internal side of plasma membrane|perinuclear region of cytoplasm	metal ion binding|Ras GTPase activator activity			ovary(2)|lung(2)|breast(1)|skin(1)	6						TCTACCTTAGCATCAAGGCAT	0.333		NaN											0	0	0	1	0	19	62				
RASA2	5922	broad.mit.edu	37	3	141328358	141328358	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:141328358G>A	uc003etz.1	+	22	2322	c.2322G>A	c.(2320-2322)AAG>AAA	p.K774K	RASA2_uc010huq.1_Silent_p.K778K|RASA2_uc003eua.1_Silent_p.K775K	NM_006506	NP_006497	Q15283	RASA2_HUMAN	RAS p21 protein activator 2	774					intracellular signal transduction|negative regulation of Ras protein signal transduction	intracellular membrane-bounded organelle|intrinsic to internal side of plasma membrane|perinuclear region of cytoplasm	metal ion binding|Ras GTPase activator activity	p.K774R(1)		ovary(2)|lung(2)|breast(1)|skin(1)	6						AGCTGCAGAAGATGGAAGGTA	0.313		NaN											0	0	0	1	0	16	27				
PLSCR1	5359	broad.mit.edu	37	3	146234923	146234923	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:146234923C>T	uc003evx.3	-	8	1158	c.770G>A	c.(769-771)GGC>GAC	p.G257D	PLSCR1_uc003evy.3_Missense_Mutation_p.G250D|PLSCR1_uc011bnn.1_Missense_Mutation_p.G176D|PLSCR1_uc003evz.3_RNA	NM_021105	NP_066928	O15162	PLS1_HUMAN	phospholipid scramblase 1	257	Cytoplasmic.				phospholipid scrambling|platelet activation|response to virus	integral to membrane|plasma membrane	calcium ion binding|phospholipid scramblase activity|SH3 domain binding			ovary(2)	2						GGAAATTTTGCCAACCACACA	0.318		NaN											0	0	0	1	0	4	68				
HPS3	84343	broad.mit.edu	37	3	148871318	148871318	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:148871318G>C	uc003ewu.1	+	7	1423	c.1283G>C	c.(1282-1284)AGA>ACA	p.R428T	HPS3_uc003ewt.1_Missense_Mutation_p.R428T|HPS3_uc011bnq.1_Missense_Mutation_p.R263T	NM_032383	NP_115759	Q969F9	HPS3_HUMAN	Hermansky-Pudlak syndrome 3 protein	428						cytoplasm				ovary(5)|large_intestine(1)	6			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			TGTGCTTTAAGAATACAGCTT	0.378		NaN							Hermansky-Pudlak_syndrome				0	0	0	1	0	28	61				
TM4SF4	7104	broad.mit.edu	37	3	149205479	149205479	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:149205479C>T	uc003exd.1	+	3	569	c.338C>T	c.(337-339)TCA>TTA	p.S113L		NM_004617	NP_004608	P48230	T4S4_HUMAN	transmembrane 4 superfamily member 4	113	Helical; (Potential).					integral to membrane					0			LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)			TCAGCCATTTCAATCAACAAG	0.502		NaN											0	0	0	1	0	19	62				
RNF13	11342	broad.mit.edu	37	3	149678634	149678634	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:149678634G>A	uc003exn.3	+	11	1673	c.889G>A	c.(889-891)GAC>AAC	p.D297N	RNF13_uc003exp.3_Missense_Mutation_p.D297N|RNF13_uc010hvh.2_Missense_Mutation_p.D178N	NM_007282	NP_009213	O43567	RNF13_HUMAN	ring finger protein 13	297	Cytoplasmic (Potential).				protein autoubiquitination	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane|nuclear inner membrane	ubiquitin-protein ligase activity|zinc ion binding			ovary(1)	1		all_neural(597;0.0138)|Myeloproliferative disorder(1037;0.0255)	LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			CTCTGACACAGACAGTAGTCA	0.448		NaN											0	0	0	1	0	20	61				
TSC22D2	9819	broad.mit.edu	37	3	150127514	150127514	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:150127514C>G	uc003exv.2	+	1	727	c.377C>G	c.(376-378)ACT>AGT	p.T126S	TSC22D2_uc003exw.2_RNA|TSC22D2_uc003exx.2_Missense_Mutation_p.T126S	NM_014779	NP_055594	O75157	T22D2_HUMAN	TSC22 domain family, member 2	126							sequence-specific DNA binding transcription factor activity			ovary(1)	1			LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			GCGGCTGCCACTTCGGCCCCC	0.741		NaN											0	0	0	1	0	23	47				
MED12L	116931	broad.mit.edu	37	3	150840608	150840608	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:150840608G>A	uc003eyp.2	+	3	281	c.243G>A	c.(241-243)CTG>CTA	p.L81L	MED12L_uc011bnz.1_Silent_p.L81L|MED12L_uc003eym.1_Silent_p.L81L|MED12L_uc003eyn.2_Silent_p.L81L|MED12L_uc003eyo.2_Silent_p.L81L	NM_053002	NP_443728	Q86YW9	MD12L_HUMAN	mediator of RNA polymerase II transcription,	81					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				ovary(4)|large_intestine(1)|central_nervous_system(1)|skin(1)	7			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CTGAGAAACTGAAGCTTAACA	0.378		NaN											0	0	0	1	0	4	28				
MED12L	116931	broad.mit.edu	37	3	150840663	150840663	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:150840663G>C	uc003eyp.2	+	3	336	c.298G>C	c.(298-300)GAT>CAT	p.D100H	MED12L_uc011bnz.1_Missense_Mutation_p.D100H|MED12L_uc003eym.1_Missense_Mutation_p.D100H|MED12L_uc003eyn.2_Missense_Mutation_p.D100H|MED12L_uc003eyo.2_Missense_Mutation_p.D100H	NM_053002	NP_443728	Q86YW9	MD12L_HUMAN	mediator of RNA polymerase II transcription,	100					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				ovary(4)|large_intestine(1)|central_nervous_system(1)|skin(1)	7			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TAATGCTAAAGATAATTATTG	0.388		NaN											0	0	0	1	0	4	19				
IGSF10	285313	broad.mit.edu	37	3	151165065	151165065	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:151165065C>T	uc011bod.1	-	4	2704	c.2704G>A	c.(2704-2706)GAA>AAA	p.E902K		NM_178822	NP_849144	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10 precursor	902					cell differentiation|multicellular organismal development|ossification	extracellular region				skin(7)|ovary(5)|central_nervous_system(1)	13			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TCCTGAAATTCAGTTGCTCCA	0.413		NaN											0	0	0	1	0	74	251				
DHX36	170506	broad.mit.edu	37	3	154002700	154002700	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:154002700C>T	uc003ezy.3	-	18	2189	c.2108G>A	c.(2107-2109)GGA>GAA	p.G703E	DHX36_uc010hvq.2_Missense_Mutation_p.G689E|DHX36_uc003ezz.3_Missense_Mutation_p.G703E	NM_020865	NP_065916	Q9H2U1	DHX36_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 36	703						cytoplasm|nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			skin(1)	1			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			AATCATTTTTCCAATATGTGG	0.418		NaN											0	0	0	1	0	22	57				
MME	4311	broad.mit.edu	37	3	154862187	154862187	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:154862187C>G	uc010hvr.1	+	14	1568	c.1357C>G	c.(1357-1359)CAG>GAG	p.Q453E	MME_uc003fab.1_Missense_Mutation_p.Q453E|MME_uc003fac.1_Missense_Mutation_p.Q453E|MME_uc003fad.1_Missense_Mutation_p.Q453E|MME_uc003fae.1_Missense_Mutation_p.Q453E	NM_007289	NP_009220	P08473	NEP_HUMAN	membrane metallo-endopeptidase	453	Extracellular (Potential).				cell-cell signaling|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			ovary(2)|central_nervous_system(1)	3		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		Candoxatril(DB00616)	AGTTTTTATTCAGACTTTAGA	0.363		NaN											0	0	0	1	0	8	32				
SLC33A1	9197	broad.mit.edu	37	3	155571672	155571672	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:155571672G>A	uc003fan.3	-	1	496	c.115C>T	c.(115-117)CAT>TAT	p.H39Y	SLC33A1_uc003fao.1_Missense_Mutation_p.H39Y	NM_004733	NP_004724	O00400	ACATN_HUMAN	acetyl-coenzyme A transporter	39	Cytoplasmic (Potential).				cell death|transmembrane transport	endoplasmic reticulum membrane|Golgi membrane|integral to plasma membrane|membrane fraction	acetyl-CoA transporter activity			ovary(2)|large_intestine(1)|pancreas(1)	4			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			GAGTCCAAATGACTGTCATCC	0.612		NaN											0	0	0	1	0	22	59				
SSR3	6747	broad.mit.edu	37	3	156271470	156271470	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:156271470C>T	uc003fau.2	-	2	291	c.234G>A	c.(232-234)AAG>AAA	p.K78K	SSR3_uc011bop.1_Silent_p.K78K	NM_007107	NP_009038	Q9UNL2	SSRG_HUMAN	signal sequence receptor gamma subunit	78	Lumenal (Potential).				cotranslational protein targeting to membrane	integral to endoplasmic reticulum membrane|microsome|Sec61 translocon complex	protein binding|signal sequence binding				0			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			ATTTCACATTCTTGTATGCAA	0.333		NaN											0	0	0	1	0	10	37				
SMC4	10051	broad.mit.edu	37	3	160119741	160119741	+	Missense_Mutation	SNP	G	G	A	rs141249752	byFrequency	TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:160119741G>A	uc003fdh.2	+	3	291	c.178G>A	c.(178-180)GAG>AAG	p.E60K	IFT80_uc003fda.2_Intron|IFT80_uc011boy.1_5'Flank|IFT80_uc003fdd.1_5'Flank|IFT80_uc003fde.1_5'Flank|SMC4_uc003fdf.1_RNA|SMC4_uc003fdg.1_Missense_Mutation_p.E60K|SMC4_uc010hwc.1_Intron|SMC4_uc003fdi.2_Intron|SMC4_uc003fdj.2_Missense_Mutation_p.E60K|SMC4_uc010hwd.2_Missense_Mutation_p.E60K|uc011boz.1_5'Flank|MIR15B_hsa-mir-15b|MI0000438_5'Flank|uc003fdk.2_5'Flank|MIR16-2_hsa-mir-16-2|MI0000115_5'Flank	NM_001002800	NP_001002800	Q9NTJ3	SMC4_HUMAN	SMC4 structural maintenance of chromosomes	60					cell division|mitotic chromosome condensation	condensin complex|cytoplasm|nucleus	ATP binding|protein heterodimerization activity			ovary(1)|breast(1)	2			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			AAGTTTAGAAGAGATTTTGAA	0.448		NaN											0	0	0	1	0	33	111				
SI	6476	broad.mit.edu	37	3	164712184	164712184	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:164712184G>A	uc003fei.2	-	41	4764	c.4702C>T	c.(4702-4704)CCC>TCC	p.P1568S		NM_001041	NP_001032	P14410	SUIS_HUMAN	sucrase-isomaltase	1568	Sucrase.|Lumenal.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			ovary(7)|upper_aerodigestive_tract(4)|skin(2)|pancreas(1)	14		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	CAGGAAGCGGGATCTTGTCTC	0.299		NaN								HNSCC(35;0.089)			0	0	0	1	0	21	54				
SLITRK3	22865	broad.mit.edu	37	3	164907342	164907342	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:164907342G>A	uc003fej.3	-	2	1721	c.1277C>T	c.(1276-1278)TCT>TTT	p.S426F	SLITRK3_uc003fek.2_Missense_Mutation_p.S426F	NM_014926	NP_055741	O94933	SLIK3_HUMAN	slit and trk like 3 protein precursor	426	LRR 7.|Extracellular (Potential).					integral to membrane				ovary(6)|skin(3)|pancreas(1)	10						CCAAAAATCAGAACGGTATAT	0.388		NaN								HNSCC(40;0.11)			0	0	0	1	0	11	38				
SERPINI2	5276	broad.mit.edu	37	3	167159970	167159970	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:167159970G>A	uc003fer.1	-	8	1203	c.1145C>T	c.(1144-1146)TCA>TTA	p.S382L	SERPINI2_uc003fes.1_Missense_Mutation_p.S392L|SERPINI2_uc003fet.1_Missense_Mutation_p.S382L	NM_006217	NP_006208	O75830	SPI2_HUMAN	serpin peptidase inhibitor, clade I (pancpin),	382					cellular component movement|regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			skin(2)|urinary_tract(1)	3						AAACAGAATTGATTCTAGGGA	0.313		NaN											0	0	0	1	0	7	15				
PIK3CA	5290	broad.mit.edu	37	3	178936091	178936091	+	Missense_Mutation	SNP	G	G	A	rs104886003		TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:178936091G>A	uc003fjk.2	+	10	1790	c.1633G>A	c.(1633-1635)GAG>AAG	p.E545K		NM_006218	NP_006209	P42336	PK3CA_HUMAN	phosphoinositide-3-kinase, catalytic, alpha	545	PI3K helical.		E -> G (in KERSEB).|E -> A (in cancer).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.E545K(735)|p.E545A(75)|p.E545G(55)|p.E545?(19)|p.E545D(15)|p.E545Q(12)|p.E545V(4)		breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1)	3553	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			TGAAATCACTGAGCAGGAGAA	0.353	E545K(RERFLCSQ1_LUNG)|E545K(KYSE510_OESOPHAGUS)|E545K(NCIH508_LARGE_INTESTINE)|E545K(HCC202_BREAST)|E545K(BFTC909_KIDNEY)|E545K(HCT15_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(MCF7_BREAST)|E545K(NCIH460_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(BC3C_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57	Mis		colorectal|gastric|gliobastoma|breast					HNSCC(19;0.045)|TSP Lung(28;0.18)			0	0	0	1	0	10	32		Valid		
ZNF639	51193	broad.mit.edu	37	3	179050806	179050806	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:179050806G>A	uc003fjq.1	+	5	542	c.199G>A	c.(199-201)GAC>AAC	p.D67N	ZNF639_uc003fjr.1_Missense_Mutation_p.D67N	NM_016331	NP_057415	Q9UID6	ZN639_HUMAN	zinc finger protein 639	67					initiation of viral infection|negative regulation by host of viral transcription|negative regulation of transcription, DNA-dependent|positive regulation by host of viral transcription|positive regulation of cell growth|positive regulation of transcription, DNA-dependent	nucleus	protein self-association|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding				0	all_cancers(143;7.9e-17)|Ovarian(172;0.0172)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0923)			gacgtcaaatgacttgccaaa	0.05		NaN											0	0	0	1	0	2	1				
ACTL6A	86	broad.mit.edu	37	3	179291249	179291249	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:179291249G>C	uc003fjw.2	+	4	543	c.370G>C	c.(370-372)GAG>CAG	p.E124Q	ACTL6A_uc003fjx.2_Missense_Mutation_p.E82Q|ACTL6A_uc003fjy.2_Missense_Mutation_p.E82Q	NM_004301	NP_004292	O96019	ACL6A_HUMAN	actin-like 6A isoform 1	124					chromatin remodeling|DNA recombination|DNA repair|histone H2A acetylation|histone H4 acetylation|nervous system development|regulation of growth|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	Ino80 complex|npBAF complex|NuA4 histone acetyltransferase complex|plasma membrane|SWI/SNF complex	ATP binding|chromatin binding			ovary(1)	1	all_cancers(143;3.94e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169)			TCTCATGTCAGAGGCACCGGT	0.323		NaN											0	0	0	1	0	19	42				
PEX5L	51555	broad.mit.edu	37	3	179533669	179533669	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:179533669G>A	uc003fki.1	-	10	1193	c.1063C>T	c.(1063-1065)CAG>TAG	p.Q355*	PEX5L_uc011bqd.1_Nonsense_Mutation_p.Q312*|PEX5L_uc011bqe.1_Nonsense_Mutation_p.Q163*|PEX5L_uc011bqf.1_Nonsense_Mutation_p.Q247*|PEX5L_uc003fkj.1_Nonsense_Mutation_p.Q320*|PEX5L_uc010hxd.1_Nonsense_Mutation_p.Q353*|PEX5L_uc011bqg.1_Nonsense_Mutation_p.Q331*|PEX5L_uc011bqh.1_Nonsense_Mutation_p.Q296*	NM_016559	NP_057643	Q8IYB4	PEX5R_HUMAN	peroxisomal biogenesis factor 5-like	355					protein import into peroxisome matrix|regulation of cAMP-mediated signaling	cytosol|peroxisomal membrane	peroxisome matrix targeting signal-1 binding			ovary(3)|large_intestine(1)	4	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)		OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)			CCAGGGTCCTGAAGAATTGCT	0.507		NaN											0	0	0	1	0	20	68				
TTC14	151613	broad.mit.edu	37	3	180322650	180322650	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:180322650G>A	uc003fkk.2	+	6	844	c.712G>A	c.(712-714)GAG>AAG	p.E238K	TTC14_uc003fkl.2_Missense_Mutation_p.E238K|TTC14_uc003fkm.2_Missense_Mutation_p.E238K	NM_133462	NP_597719	Q96N46	TTC14_HUMAN	tetratricopeptide repeat domain 14 isoform a	238	TPR 1.						RNA binding			ovary(1)	1	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			GAGAAGTGTTGAGCTAAATAG	0.303		NaN											0	0	0	1	0	4	26				
DCUN1D1	54165	broad.mit.edu	37	3	182683333	182683333	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:182683333C>G	uc003fld.1	-	2	261	c.212G>C	c.(211-213)AGA>ACA	p.R71T	DCUN1D1_uc011bqn.1_5'UTR	NM_020640	NP_065691	Q96GG9	DCNL1_HUMAN	RP42 homolog	71	DCUN1.					ubiquitin ligase complex	protein binding			ovary(1)	1	all_cancers(143;9.04e-15)|Ovarian(172;0.0355)		all cancers(12;2.54e-44)|Epithelial(37;4.71e-38)|LUSC - Lung squamous cell carcinoma(7;5.04e-25)|Lung(8;5.03e-23)|OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)			ACCTTTGTATCTATTGTACAG	0.328		NaN											0	0	0	1	0	5	11				
B3GNT5	84002	broad.mit.edu	37	3	182987774	182987774	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:182987774C>T	uc003flk.2	+	2	718	c.188C>T	c.(187-189)TCT>TTT	p.S63F	MCF2L2_uc003fli.1_Intron|MCF2L2_uc003flj.1_Intron|MCF2L2_uc011bqr.1_Intron|B3GNT5_uc003fll.2_Missense_Mutation_p.S63F|B3GNT5_uc003flm.2_Missense_Mutation_p.S63F	NM_032047	NP_114436	Q9BYG0	B3GN5_HUMAN	UDP-GlcNAc:betaGal	63	Lumenal (Potential).				central nervous system development|glycolipid biosynthetic process|protein glycosylation	Golgi membrane|integral to membrane	beta-galactosyl-N-acetylglucosaminylgalactosylglucosyl-ceramide beta-1,3-acetylglucosaminyltransferase activity|galactosyltransferase activity			ovary(1)	1	all_cancers(143;8.52e-13)|Ovarian(172;0.0355)		all cancers(12;4.52e-44)|Epithelial(37;8.82e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			GATACCCTGTCTCTTAAGCAC	0.393		NaN											0	0	0	1	0	24	83				
B3GNT5	84002	broad.mit.edu	37	3	182987776	182987776	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:182987776C>T	uc003flk.2	+	2	720	c.190C>T	c.(190-192)CTT>TTT	p.L64F	MCF2L2_uc003fli.1_Intron|MCF2L2_uc003flj.1_Intron|MCF2L2_uc011bqr.1_Intron|B3GNT5_uc003fll.2_Missense_Mutation_p.L64F|B3GNT5_uc003flm.2_Missense_Mutation_p.L64F	NM_032047	NP_114436	Q9BYG0	B3GN5_HUMAN	UDP-GlcNAc:betaGal	64	Lumenal (Potential).				central nervous system development|glycolipid biosynthetic process|protein glycosylation	Golgi membrane|integral to membrane	beta-galactosyl-N-acetylglucosaminylgalactosylglucosyl-ceramide beta-1,3-acetylglucosaminyltransferase activity|galactosyltransferase activity			ovary(1)	1	all_cancers(143;8.52e-13)|Ovarian(172;0.0355)		all cancers(12;4.52e-44)|Epithelial(37;8.82e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			TACCCTGTCTCTTAAGCACAC	0.403		NaN											0	0	0	1	0	24	83				
HTR3E	285242	broad.mit.edu	37	3	183823613	183823613	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:183823613C>G	uc010hxq.2	+	7	1247	c.781C>G	c.(781-783)CTG>GTG	p.L261V	HTR3E_uc003fml.3_Missense_Mutation_p.L246V|HTR3E_uc003fmm.2_Missense_Mutation_p.L276V|HTR3E_uc010hxr.2_Missense_Mutation_p.L287V|HTR3E_uc003fmn.2_Missense_Mutation_p.L261V	NM_182589	NP_872395	A5X5Y0	5HT3E_HUMAN	5-hydroxytryptamine receptor 3 subunit E	261	Helical; Name=1; (Potential).					integral to membrane|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity			ovary(1)|central_nervous_system(1)|skin(1)	3	all_cancers(143;1.46e-10)|Ovarian(172;0.0303)		Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)			CAGTGGCTTTCTGGTTGCCAT	0.547		NaN											0	0	0	1	0	29	113				
EIF4G1	1981	broad.mit.edu	37	3	184043095	184043095	+	Silent	SNP	C	C	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:184043095C>A	uc003fnp.2	+	19	3093	c.2895C>A	c.(2893-2895)ATC>ATA	p.I965I	EIF4G1_uc003fno.1_Silent_p.I906I|EIF4G1_uc010hxw.1_Silent_p.I801I|EIF4G1_uc003fnt.2_Silent_p.I676I|EIF4G1_uc003fnq.2_Silent_p.I878I|EIF4G1_uc003fnr.2_Silent_p.I801I|EIF4G1_uc010hxx.2_Silent_p.I972I|EIF4G1_uc003fns.2_Silent_p.I925I|EIF4G1_uc010hxy.2_Silent_p.I972I|EIF4G1_uc003fnv.3_Silent_p.I966I|EIF4G1_uc003fnu.3_Silent_p.I965I|EIF4G1_uc003fnw.2_Silent_p.I972I|EIF4G1_uc003fnx.2_Silent_p.I770I|EIF4G1_uc003fny.3_Silent_p.I769I|SNORD66_uc003fnz.2_5'Flank	NM_198241	NP_937884	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4	965	eIF3/EIF4A-binding.				insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity			lung(2)|ovary(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	7	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			TGGAAAAAATCATTAAAGAAA	0.532		NaN											1	0	3.67414e-24	1	3.91955e-24	35	113				
MAP3K13	9175	broad.mit.edu	37	3	185146691	185146691	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:185146691G>C	uc010hyf.2	+	3	588	c.322G>C	c.(322-324)GAG>CAG	p.E108Q	MAP3K13_uc011brt.1_Intron|MAP3K13_uc003fph.3_5'UTR|MAP3K13_uc011bru.1_Intron|MAP3K13_uc003fpi.2_Missense_Mutation_p.E108Q|MAP3K13_uc010hyg.2_5'UTR	NM_004721	NP_004712	O43283	M3K13_HUMAN	mitogen-activated protein kinase kinase kinase	108					activation of MAPKK activity|JNK cascade|positive regulation of NF-kappaB transcription factor activity|protein autophosphorylation	cytoplasm|membrane|membrane fraction	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding			ovary(2)|skin(1)	3	all_cancers(143;7.21e-11)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)			GGTGGACGGAGAGAGCACAAG	0.517		NaN											0	0	0	1	0	25	45				
CLDN16	10686	broad.mit.edu	37	3	190105989	190105989	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:190105989G>A	uc003fsi.2	+	1	149	c.81G>A	c.(79-81)GTG>GTA	p.V27V	CLDN16_uc010hze.2_Silent_p.V27V	NM_006580	NP_006571	Q9Y5I7	CLD16_HUMAN	claudin 16	27	Cytoplasmic (Potential).				calcium-independent cell-cell adhesion|cellular metal ion homeostasis|excretion	integral to membrane|tight junction	identical protein binding|magnesium ion transmembrane transporter activity|structural molecule activity			ovary(1)	1	all_cancers(143;3.61e-10)|Ovarian(172;0.0991)		Lung(62;2.23e-05)|LUSC - Lung squamous cell carcinoma(58;3.15e-05)	GBM - Glioblastoma multiforme(93;0.018)		AGCAGGGCGTGAGAAAAAGTA	0.502		NaN											0	0	0	1	0	7	47				
HES1	3280	broad.mit.edu	37	3	193855564	193855564	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:193855564G>C	uc003ftq.1	+	4	621	c.385G>C	c.(385-387)GAG>CAG	p.E129Q		NM_005524	NP_005515	Q14469	HES1_HUMAN	hairy and enhancer of split 1	129	Orange.				endocrine pancreas development|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway	nucleus	histone deacetylase binding|sequence-specific DNA binding transcription factor activity			ovary(1)|lung(1)	2	all_cancers(143;7.3e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;3.65e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;1.48e-05)		GTCCACGTGCGAGGGCGTTAA	0.657		NaN											0	0	0	1	0	21	86				
MUC4	4585	broad.mit.edu	37	3	195505851	195505851	+	Silent	SNP	T	T	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:195505851T>C	uc011bto.1	-	3	12676	c.12216A>G	c.(12214-12216)TCA>TCG	p.S4072S	MUC4_uc003fva.2_5'Flank|MUC4_uc003fvb.2_5'Flank|MUC4_uc003fvc.2_5'Flank|MUC4_uc003fvd.2_5'Flank|MUC4_uc003fve.2_5'Flank|MUC4_uc010hzr.2_5'Flank|MUC4_uc011btf.1_Intron|MUC4_uc011btg.1_Intron|MUC4_uc011bth.1_Intron|MUC4_uc011bti.1_Intron|MUC4_uc011btj.1_Intron|MUC4_uc011btk.1_Intron|MUC4_uc011btl.1_Intron|MUC4_uc011btm.1_Intron|MUC4_uc011btn.1_Intron|MUC4_uc003fvo.2_Intron|MUC4_uc003fvp.2_Intron|MUC4_uc010hzu.1_Intron	NM_018406	NP_060876	Q99102	MUC4_HUMAN	mucin 4 isoform a	963	Ser-rich.				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity				0	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		CTGTGGATGCTGAGGAAGTGT	0.592		NaN											0	0	0	1	0	2	2				
RNF168	165918	broad.mit.edu	37	3	196199034	196199034	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:196199034C>T	uc003fwq.2	-	6	1910	c.1372G>A	c.(1372-1374)GAT>AAT	p.D458N	RNF168_uc010iah.2_Missense_Mutation_p.D291N|uc010iag.1_5'Flank	NM_152617	NP_689830	Q8IYW5	RN168_HUMAN	ring finger protein 168	458	MIU motif 2.				double-strand break repair|histone H2A K63-linked ubiquitination|positive regulation of DNA repair|response to ionizing radiation	nucleus|ubiquitin ligase complex	chromatin binding|histone binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding				0	all_cancers(143;1e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;5.25e-24)|all cancers(36;5.47e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00348)		TGCTCTTTATCCACCTCCTTC	0.438		NaN											0	0	0	1	0	47	118				
ZNF732	654254	broad.mit.edu	37	4	265128	265128	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr4:265128C>T	uc011buu.1	-	3	1529	c.1515G>A	c.(1513-1515)GAG>GAA	p.E505E	ZNF732_uc010ibb.1_Intron	NM_001137608	NP_001131080	B4DXR9	ZN732_HUMAN	zinc finger protein 732	506	C2H2-type 14.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						CTTTGCCACACTCTTCACATT	0.388		NaN											0	0	0	1	0	4	19				
TMEM175	84286	broad.mit.edu	37	4	952220	952220	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr4:952220A>C	uc003gbq.2	+	11	1549	c.1451A>C	c.(1450-1452)CAC>CCC	p.H484P	TMEM175_uc003gbr.2_Missense_Mutation_p.H402P|TMEM175_uc003gbu.2_Missense_Mutation_p.H402P|TMEM175_uc003gbs.2_Missense_Mutation_p.H367P|TMEM175_uc003gbt.2_Missense_Mutation_p.H367P|TMEM175_uc003gbv.2_Missense_Mutation_p.H367P|TMEM175_uc010ibm.2_Missense_Mutation_p.H300P	NM_032326	NP_115702	Q9BSA9	TM175_HUMAN	transmembrane protein 175	484						integral to membrane					0			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			CGGCCCGAACACCCCCCGCCA	0.736		NaN											0	0	0	1	0	7	20				
MAEA	10296	broad.mit.edu	37	4	1305911	1305911	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr4:1305911G>T	uc003gda.2	+	2	244	c.214G>T	c.(214-216)GAC>TAC	p.D72Y	MAEA_uc010ibs.1_Missense_Mutation_p.D72Y|MAEA_uc003gdb.2_Missense_Mutation_p.D72Y|MAEA_uc011bvb.1_Missense_Mutation_p.D72Y|MAEA_uc003gdc.2_Missense_Mutation_p.D72Y|MAEA_uc003gdd.2_RNA|MAEA_uc011bvc.1_Missense_Mutation_p.D71Y|MAEA_uc011bvd.1_Missense_Mutation_p.D24Y	NM_001017405	NP_001017405	Q7L5Y9	MAEA_HUMAN	macrophage erythroblast attacher isoform 1	72	Extracellular and involved in cell to cell contact.				cell adhesion|cell cycle|cell division|erythrocyte maturation|negative regulation of myeloid cell apoptosis|regulation of mitotic cell cycle	actomyosin contractile ring|integral to plasma membrane|membrane fraction|nuclear matrix|spindle	actin binding			ovary(1)|central_nervous_system(1)	2			OV - Ovarian serous cystadenocarcinoma(23;0.0201)			CAGCCTGCTGGACGGCGTGGT	0.632		NaN											1	0	3.07112e-06	1	3.15306e-06	11	54				
POLN	353497	broad.mit.edu	37	4	2172900	2172900	+	Silent	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr4:2172900G>C	uc003ger.2	-	10	1383	c.1383C>G	c.(1381-1383)CTC>CTG	p.L461L	POLN_uc010ich.1_Silent_p.L52L|POLN_uc011bvi.1_Silent_p.L461L	NM_181808	NP_861524	Q7Z5Q5	DPOLN_HUMAN	DNA-directed DNA polymerase nu	461					DNA repair|DNA replication	nucleus	DNA binding|DNA-directed DNA polymerase activity			kidney(2)|ovary(1)|skin(1)	4			OV - Ovarian serous cystadenocarcinoma(23;0.0955)			CCAATTCCTTGAGACGAGCCT	0.348		NaN						DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage					0	0	0	1	0	16	73				
HTT	3064	broad.mit.edu	37	4	3176447	3176447	+	Splice_Site	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr4:3176447G>A	uc011bvq.1	+	33	4318	c.4173_splice	c.e33-1	p.G1391_splice		NM_002111	NP_002102	P42858	HD_HUMAN	huntingtin						establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding			skin(2)|ovary(1)|lung(1)	4		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		CCATTTGGCAGATGGTTTGAT	0.423		NaN											0	0	0	1	0	14	31				
HTT	3064	broad.mit.edu	37	4	3213724	3213724	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr4:3213724G>A	uc011bvq.1	+	49	6634	c.6489G>A	c.(6487-6489)AAG>AAA	p.K2163K		NM_002111	NP_002102	P42858	HD_HUMAN	huntingtin	2161					establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding			skin(2)|ovary(1)|lung(1)	4		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		GTGGCCAGAAGAGTGCCCTTT	0.532		NaN											0	0	0	1	0	26	94				
DOK7	285489	broad.mit.edu	37	4	3494825	3494825	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr4:3494825C>T	uc003ghd.2	+	7	1182	c.1112C>T	c.(1111-1113)TCA>TTA	p.S371L	DOK7_uc003ghe.2_Missense_Mutation_p.S233L|DOK7_uc003ghf.2_Missense_Mutation_p.H113Y|DOK7_uc003ghg.1_Missense_Mutation_p.S61L	NM_173660	NP_775931	Q18PE1	DOK7_HUMAN	downstream of tyrosine kinase 7 isoform 1	371					positive regulation of protein tyrosine kinase activity	cell junction|synapse	insulin receptor binding|protein kinase binding			skin(1)	1				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		GAACTGGGCTCACTGCTCAGC	0.701		NaN											0	0	0	1	0	6	19				
LYAR	55646	broad.mit.edu	37	4	4276349	4276349	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr4:4276349C>T	uc011bvy.1	-	7	720	c.577G>A	c.(577-579)GAA>AAA	p.E193K	LYAR_uc011bvx.1_Missense_Mutation_p.E76K|LYAR_uc003ght.2_Missense_Mutation_p.E193K	NM_001145725	NP_001139197	Q9NX58	LYAR_HUMAN	Ly1 antibody reactive homolog	193	Potential.|Lys-rich.					nucleolus	metal ion binding|protein binding				0				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		tgccgttcttcctttctttct	0.338		NaN											0	0	0	1	0	25	88				
HTRA3	94031	broad.mit.edu	37	4	8293139	8293139	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr4:8293139C>T	uc003gla.2	+	4	955	c.751C>T	c.(751-753)CGG>TGG	p.R251W	HTRA3_uc003gkz.2_Missense_Mutation_p.R251W	NM_053044	NP_444272	P83110	HTRA3_HUMAN	HtrA serine peptidase 3 precursor	251	Serine protease.				proteolysis|regulation of cell growth	extracellular region	insulin-like growth factor binding|serine-type endopeptidase activity			ovary(1)	1						GGCCGACCTGCGGCCTGGGGA	0.612		NaN											0	0	0	1	0	22	105				
SLC2A9	56606	broad.mit.edu	37	4	10027568	10027568	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr4:10027568C>T	uc003gmd.2	-	2	182	c.23G>A	c.(22-24)CGA>CAA	p.R8Q		NM_001001290	NP_001001290	Q9NRM0	GTR9_HUMAN	solute carrier family 2, member 9 protein	Error:Variant_position_missing_in_Q9NRM0_after_alignment					glucose transport|urate metabolic process	integral to membrane|plasma membrane	sugar:hydrogen symporter activity			ovary(3)	3						ATCTTCTCCTCGGTCCTTTTT	0.388		NaN											0	0	0	1	0	5	57				
WDR1	9948	broad.mit.edu	37	4	10079487	10079487	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr4:10079487C>T	uc003gmf.2	-	13	1742	c.1459G>A	c.(1459-1461)GAG>AAG	p.E487K	WDR1_uc003gmg.2_Missense_Mutation_p.E347K|WDR1_uc010idm.2_RNA	NM_017491	NP_059830	O75083	WDR1_HUMAN	WD repeat-containing protein 1 isoform 1	487	WD 9.				platelet activation|platelet degranulation|sensory perception of sound	cytoskeleton|cytosol|extracellular region	actin binding			ovary(2)|pancreas(1)	3				STAD - Stomach adenocarcinoma(129;0.000703)|Colorectal(103;0.0057)|LUSC - Lung squamous cell carcinoma(721;0.0232)		CCCTTGGCCTCTAGGAGCTTG	0.642		NaN											0	0	0	1	0	7	26				
ZNF518B	85460	broad.mit.edu	37	4	10446884	10446884	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr4:10446884G>A	uc003gmn.2	-	3	1556	c.1069C>T	c.(1069-1071)CAG>TAG	p.Q357*		NM_053042	NP_444270	Q9C0D4	Z518B_HUMAN	zinc finger protein 518B	357					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(3)|upper_aerodigestive_tract(1)	4						ACAAGCTGCTGTGTACCATTG	0.453		NaN											0	0	0	1	0	36	105				
CC2D2A	57545	broad.mit.edu	37	4	15602891	15602891	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr4:15602891C>G	uc010idv.2	+	38	4951	c.4706C>G	c.(4705-4707)TCT>TGT	p.S1569C	CC2D2A_uc003gnx.2_Missense_Mutation_p.S1461C|CC2D2A_uc003gnz.1_RNA|CC2D2A_uc003goa.1_RNA	NM_001080522	NP_001073991	Q9P2K1	C2D2A_HUMAN	coiled-coil and C2 domain containing 2A isoform	1569					cell projection organization	cilium|microtubule basal body				pancreas(2)|ovary(1)	3						ATGCCTTATTCTGAAGTGAAG	0.333		NaN											0	0	0	1	0	6	14				
LGI2	55203	broad.mit.edu	37	4	25005550	25005550	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr4:25005550G>A	uc003grf.2	-	8	1260	c.1161C>T	c.(1159-1161)CTC>CTT	p.L387L		NM_018176	NP_060646	Q8N0V4	LGI2_HUMAN	leucine-rich repeat LGI family, member 2	387	EAR 4.					extracellular region					0		Breast(46;0.173)				TGGACAGGATGAGATGCGATT	0.493		NaN											0	0	0	1	0	42	123				
ANAPC4	29945	broad.mit.edu	37	4	25419344	25419344	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr4:25419344C>T	uc003gro.2	+	28	2311	c.2182C>T	c.(2182-2184)CGA>TGA	p.R728*	ANAPC4_uc003grp.2_Nonsense_Mutation_p.R614*|ANAPC4_uc003grq.2_Nonsense_Mutation_p.R181*	NM_013367	NP_037499	Q9UJX5	APC4_HUMAN	anaphase-promoting complex subunit 4	728					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G2/M transition of mitotic cell cycle|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm	protein phosphatase binding|ubiquitin-protein ligase activity			ovary(2)|large_intestine(1)|pancreas(1)|skin(1)	5		Breast(46;0.0503)				GAATGGTTTTCGAAAAGTGTC	0.398		NaN											0	0	0	1	0	30	89				
TLR6	10333	broad.mit.edu	37	4	38830852	38830852	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr4:38830852C>G	uc003gtm.2	-	1	309	c.243G>C	c.(241-243)TTG>TTC	p.L81F	TLR6_uc010ifg.1_Missense_Mutation_p.L81F	NM_006068	NP_006059	Q9Y2C9	TLR6_HUMAN	toll-like receptor 6 precursor	81	LRR 2.|Extracellular (Potential).				activation of NF-kappaB-inducing kinase activity|cellular response to diacyl bacterial lipopeptide|defense response to bacterium|detection of diacyl bacterial lipopeptide|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-6 biosynthetic process|positive regulation of JUN kinase activity|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	integral to plasma membrane|phagocytic vesicle membrane	lipopeptide binding|transmembrane receptor activity			ovary(2)	2						GGGAAAGTCTCAAAACTGTCA	0.373		NaN											0	0	0	1	0	14	49				
RFC1	5981	broad.mit.edu	37	4	39318616	39318616	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr4:39318616C>G	uc003gty.1	-	10	1256	c.1122G>C	c.(1120-1122)AAG>AAC	p.K374N	RFC1_uc003gtx.1_Missense_Mutation_p.K374N	NM_002913	NP_002904	P35251	RFC1_HUMAN	replication factor C large subunit	374					DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|telomere maintenance via telomerase|transcription, DNA-dependent|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|enzyme activator activity|protein binding			ovary(2)|pancreas(1)|skin(1)	4						TAGTGCGTTTCTTTTCAGAAT	0.378		NaN											0	0	0	1	0	15	31				
GABRA4	2557	broad.mit.edu	37	4	46979555	46979555	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr4:46979555C>T	uc003gxg.2	-	4	505	c.366G>A	c.(364-366)ATG>ATA	p.M122I		NM_000809	NP_000800	P48169	GBRA4_HUMAN	gamma-aminobutyric acid A receptor, alpha 4	122	Extracellular (Probable).				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			ovary(2)|upper_aerodigestive_tract(1)|breast(1)	4					Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	TCGTTACCATCATATTGTTCA	0.363		NaN											0	0	0	1	0	16	43				
ATP10D	57205	broad.mit.edu	37	4	47525165	47525165	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr4:47525165G>A	uc003gxk.1	+	4	786	c.622G>A	c.(622-624)GAG>AAG	p.E208K	ATP10D_uc003gxj.3_Missense_Mutation_p.E208K	NM_020453	NP_065186	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	208	Cytoplasmic (Potential).				ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			ovary(2)|pancreas(1)	3						CTGTCACATTGAGACTTCTGG	0.458		NaN											0	0	0	1	0	13	50				
TEC	7006	broad.mit.edu	37	4	48140806	48140806	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr4:48140806C>G	uc003gxz.2	-	17	1779	c.1688G>C	c.(1687-1689)AGA>ACA	p.R563T		NM_003215	NP_003206	P42680	TEC_HUMAN	tec protein tyrosine kinase	563	Protein kinase.		R -> K (in a lung adenocarcinoma sample; somatic mutation).		intracellular protein kinase cascade	cytosol	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding	p.R563K(1)		lung(4)|stomach(1)|central_nervous_system(1)|breast(1)|skin(1)|ovary(1)	9						AAAAGGCATTCTGCCTTCCGT	0.458		NaN											0	0	0	1	0	14	50				
FIP1L1	81608	broad.mit.edu	37	4	54294335	54294335	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr4:54294335C>G	uc003gzy.2	+	13	1345	c.1159C>G	c.(1159-1161)CTG>GTG	p.L387V	PDGFRA_uc003haa.2_Intron|FIP1L1_uc003gzx.3_Missense_Mutation_p.L372V|FIP1L1_uc011bzt.1_Missense_Mutation_p.L351V|FIP1L1_uc011bzu.1_Missense_Mutation_p.L372V|FIP1L1_uc003gzz.2_Missense_Mutation_p.L313V|FIP1L1_uc003hab.2_Missense_Mutation_p.L352V|FIP1L1_uc003hac.2_Missense_Mutation_p.L132V|FIP1L1_uc010ign.2_RNA|FIP1L1_uc003had.2_5'UTR|FIP1L1_uc003hae.2_5'UTR	NM_030917	NP_112179	Q6UN15	FIP1_HUMAN	FIP1 like 1 isoform 1	387	Pro-rich.				mRNA processing	nucleus	RNA binding			ovary(1)|skin(1)	2			GBM - Glioblastoma multiforme(3;3.31e-36)|LUSC - Lung squamous cell carcinoma(32;0.0134)			TGCTCCACCTCTGATTCCACC	0.289		NaN	T	PDGFRA	idiopathic hypereosinophilic syndrome								0	0	0	1	0	13	56				
EPHA5	2044	broad.mit.edu	37	4	66218798	66218798	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr4:66218798C>G	uc003hcy.2	-	13	2453	c.2260G>C	c.(2260-2262)GAG>CAG	p.E754Q	EPHA5_uc003hcx.2_Missense_Mutation_p.E686Q|EPHA5_uc003hcz.2_Missense_Mutation_p.E732Q|EPHA5_uc011cah.1_Missense_Mutation_p.E755Q|EPHA5_uc011cai.1_Missense_Mutation_p.E733Q|EPHA5_uc003hda.2_Missense_Mutation_p.E755Q	NM_004439	NP_004430	P54756	EPHA5_HUMAN	ephrin receptor EphA5 isoform a precursor	754	Cytoplasmic (Potential).|Protein kinase.				cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity			lung(19)|stomach(2)|ovary(2)|central_nervous_system(1)	24						TCCATATACTCTGTCACGATC	0.358		NaN								TSP Lung(17;0.13)			0	0	0	1	0	14	26				
EPHA5	2044	broad.mit.edu	37	4	66231707	66231707	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr4:66231707C>A	uc003hcy.2	-	11	2186	c.1993G>T	c.(1993-1995)GAA>TAA	p.E665*	EPHA5_uc003hcx.2_Nonsense_Mutation_p.E597*|EPHA5_uc003hcz.2_Nonsense_Mutation_p.E643*|EPHA5_uc011cah.1_Nonsense_Mutation_p.E666*|EPHA5_uc011cai.1_Nonsense_Mutation_p.E644*|EPHA5_uc003hda.2_Nonsense_Mutation_p.E666*	NM_004439	NP_004430	P54756	EPHA5_HUMAN	ephrin receptor EphA5 isoform a precursor	665	Cytoplasmic (Potential).				cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity			lung(19)|stomach(2)|ovary(2)|central_nervous_system(1)	24						TTAGCAAATTCGTGGACAGCT	0.363		NaN								TSP Lung(17;0.13)			1	0	1.2644e-06	1	1.30368e-06	21	66				
GNRHR	2798	broad.mit.edu	37	4	68619556	68619556	+	Silent	SNP	G	G	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr4:68619556G>T	uc003hdn.2	-	1	2249	c.498C>A	c.(496-498)CTC>CTA	p.L166L	LOC550112_uc003hdl.3_Intron|GNRHR_uc003hdm.2_Silent_p.L166L	NM_000406	NP_000397	P30968	GNRHR_HUMAN	gonadotropin-releasing hormone receptor isoform	166	Helical; Name=4; (Potential).				multicellular organismal development	integral to plasma membrane	gonadotropin-releasing hormone receptor activity			ovary(1)	1					Abarelix(DB00106)|Cetrorelix(DB00050)|Danazol(DB01406)|Gonadorelin(DB00644)|Leuprolide(DB00007)|Nafarelin(DB00666)	AGACACTACTGAGGATCCAGG	0.463		NaN											1	0	1.12685e-05	1	1.14925e-05	9	29				
GC	2638	broad.mit.edu	37	4	72649680	72649680	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr4:72649680C>G	uc003hge.2	-	1	209	c.56G>C	c.(55-57)AGA>ACA	p.R19T	GC_uc010iie.2_Missense_Mutation_p.R19T|GC_uc010iif.2_Missense_Mutation_p.R38T	NM_000583	NP_000574	P02774	VTDB_HUMAN	vitamin D-binding protein precursor	19	Albumin 1.				hormone biosynthetic process|vitamin D metabolic process	cytosol|lysosomal lumen	actin binding|vitamin D binding|vitamin transporter activity			ovary(2)|upper_aerodigestive_tract(1)	3		all_hematologic(202;0.107)	Lung(101;0.148)		Cholecalciferol(DB00169)	AATCTTACCTCTCTCTAAAGC	0.363		NaN											0	0	0	1	0	16	44				
CXCL13	10563	broad.mit.edu	37	4	78528941	78528941	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr4:78528941G>A	uc003hkr.2	+	3	227	c.149G>A	c.(148-150)CGA>CAA	p.R50Q		NM_006419	NP_006410	O43927	CXL13_HUMAN	chemokine (C-X-C motif) ligand 13 (B-cell	50					activation of Rap GTPase activity|B cell chemotaxis|cell-cell signaling|chronic inflammatory response|defense response to bacterium|elevation of cytosolic calcium ion concentration|endothelial cell chemotaxis to fibroblast growth factor|germinal center formation|lymphocyte chemotaxis across high endothelial venule|negative regulation of apoptosis|positive regulation of cell-cell adhesion mediated by integrin|positive regulation of integrin activation|positive regulation of T cell chemotaxis|regulation of angiogenesis|regulation of humoral immune response	extracellular space|soluble fraction	CCR10 chemokine receptor binding|chemokine activity|CXCR3 chemokine receptor binding|CXCR5 chemokine receptor binding|fibroblast growth factor 2 binding|heparin binding|protein heterodimerization activity|receptor agonist activity				0						TTCATTGATCGAATTCAAATC	0.393		NaN											0	0	0	1	0	21	66				
CNOT6L	246175	broad.mit.edu	37	4	78695757	78695757	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr4:78695757G>A	uc011ccd.1	-	3	372	c.241C>T	c.(241-243)CTG>TTG	p.L81L	CNOT6L_uc003hks.2_Silent_p.L81L|CNOT6L_uc011cce.1_Silent_p.L81L	NM_144571	NP_653172	Q96LI5	CNO6L_HUMAN	CCR4-NOT transcription complex, subunit 6-like	81	LRR 2.				nuclear-transcribed mRNA poly(A) tail shortening	cytosol	exonuclease activity|protein binding			large_intestine(1)	1						AGGTAAACCAGATTATGAAGC	0.418		NaN											0	0	0	1	0	8	30				
GK2	2712	broad.mit.edu	37	4	80328225	80328225	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr4:80328225C>G	uc003hlu.2	-	1	1148	c.1130G>C	c.(1129-1131)AGA>ACA	p.R377T		NM_033214	NP_149991	Q14410	GLPK2_HUMAN	glycerol kinase 2	377					glycerol-3-phosphate metabolic process	mitochondrial outer membrane	ATP binding|glycerol kinase activity			ovary(2)|skin(2)	4						GAGTATCCCTCTTGCACTGGG	0.428		NaN											0	0	0	1	0	27	107				
PRKG2	5593	broad.mit.edu	37	4	82056420	82056420	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr4:82056420G>C	uc003hmh.2	-	13	1679	c.1665C>G	c.(1663-1665)TTC>TTG	p.F555L	PRKG2_uc011ccf.1_Missense_Mutation_p.F135L|PRKG2_uc011ccg.1_Missense_Mutation_p.F135L|PRKG2_uc011cch.1_Missense_Mutation_p.F526L	NM_006259	NP_006250	Q13237	KGP2_HUMAN	protein kinase, cGMP-dependent, type II	555	Protein kinase.				platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity			breast(3)|central_nervous_system(2)|ovary(1)|large_intestine(1)	7						AAGCAACGCAGAATTTGGAGG	0.408		NaN											0	0	0	1	0	21	49				
MAPK10	5602	broad.mit.edu	37	4	87023143	87023143	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr4:87023143C>T	uc003hpq.2	-	6	535	c.468G>A	c.(466-468)GTG>GTA	p.V156V	MAPK10_uc010ikg.2_Silent_p.V118V|MAPK10_uc003hpr.2_Silent_p.V118V|MAPK10_uc003hps.2_Silent_p.V156V|MAPK10_uc003hpt.2_Silent_p.V156V|MAPK10_uc003hpu.2_Silent_p.V156V|MAPK10_uc003hpv.2_Silent_p.V11V|MAPK10_uc010ikh.1_RNA|MAPK10_uc003hpn.2_5'Flank|MAPK10_uc003hpo.2_Silent_p.V11V|MAPK10_uc011ccw.1_Silent_p.V42V|MAPK10_uc003hpp.2_Silent_p.V11V	NM_138982	NP_620448	P53779	MK10_HUMAN	mitogen-activated protein kinase 10 isoform 2	156	Protein kinase.				innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|JUN kinase activity|MAP kinase kinase activity|protein binding			stomach(1)|breast(1)|central_nervous_system(1)	3		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.243)		OV - Ovarian serous cystadenocarcinoma(123;0.002)		CCATCTGAATCACTTGACATA	0.408		NaN											0	0	0	1	0	31	133				
PTPN13	5783	broad.mit.edu	37	4	87622524	87622524	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr4:87622524C>G	uc003hpz.2	+	7	1245	c.765C>G	c.(763-765)TTC>TTG	p.F255L	PTPN13_uc003hpy.2_Missense_Mutation_p.F255L|PTPN13_uc003hqa.2_Missense_Mutation_p.F255L|PTPN13_uc003hqb.2_Missense_Mutation_p.F255L	NM_080683	NP_542414	Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type	255						cytoplasm|cytoskeleton|plasma membrane	protein binding|protein binding|protein tyrosine phosphatase activity			ovary(4)|breast(1)|kidney(1)	6		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		AGAATTATTTCAAGGACATTT	0.378		NaN											0	0	0	1	0	5	15				
SMARCAD1	56916	broad.mit.edu	37	4	95185963	95185963	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr4:95185963G>A	uc003htc.3	+	10	1642	c.1387G>A	c.(1387-1389)GAA>AAA	p.E463K	SMARCAD1_uc003htb.3_Missense_Mutation_p.E463K|SMARCAD1_uc003htd.3_Missense_Mutation_p.E463K|SMARCAD1_uc010ila.2_Missense_Mutation_p.E326K|SMARCAD1_uc011cdw.1_Missense_Mutation_p.E33K	NM_020159	NP_064544	Q9H4L7	SMRCD_HUMAN	SWI/SNF-related, matrix-associated	463					chromatin modification|nucleotide metabolic process|positive regulation of transcription, DNA-dependent|protein homooligomerization|regulation of DNA recombination	nuclear matrix	ATP binding|DNA binding|helicase activity			skin(2)|ovary(1)|breast(1)	4				OV - Ovarian serous cystadenocarcinoma(123;4.33e-08)		GAACAAATGTGAAGACATTTC	0.348		NaN											0	0	0	1	0	16	48				
C4orf17	84103	broad.mit.edu	37	4	100434320	100434320	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr4:100434320C>G	uc003huw.2	+	2	405	c.82C>G	c.(82-84)CTA>GTA	p.L28V	C4orf17_uc003hux.2_RNA	NM_032149	NP_115525	Q53FE4	CD017_HUMAN	hypothetical protein LOC84103	28											0				OV - Ovarian serous cystadenocarcinoma(123;2.08e-08)		AAGCTGCTTTCTAGTCAGGCA	0.458		NaN											0	0	0	1	0	22	97				
SGMS2	166929	broad.mit.edu	37	4	108820810	108820810	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr4:108820810C>T	uc003hyl.3	+	4	1090	c.535C>T	c.(535-537)CTA>TTA	p.L179L	uc003hym.1_Intron|SGMS2_uc003hyn.2_Silent_p.L179L|SGMS2_uc003hyo.2_Silent_p.L179L	NM_001136258	NP_001129730	Q8NHU3	SMS2_HUMAN	sphingomyelin synthase 2	179	Helical; (Potential).				sphingomyelin biosynthetic process	integral to Golgi membrane|integral to plasma membrane	ceramide cholinephosphotransferase activity|kinase activity|sphingomyelin synthase activity			lung(1)	1				OV - Ovarian serous cystadenocarcinoma(123;2.95e-05)	Choline(DB00122)	TGTTACTACTCTACCTGTGCC	0.398		NaN											0	0	0	1	0	25	81				
EGF	1950	broad.mit.edu	37	4	110932606	110932606	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr4:110932606C>G	uc003hzy.3	+	24	4071	c.3619C>G	c.(3619-3621)CAG>GAG	p.Q1207E	EGF_uc011cfu.1_Missense_Mutation_p.Q1165E|EGF_uc011cfv.1_Missense_Mutation_p.Q1166E|EGF_uc010imk.2_3'UTR	NM_001963	NP_001954	P01133	EGF_HUMAN	epidermal growth factor precursor	1207	Cytoplasmic (Potential).				angiogenesis|DNA replication|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface	integral to membrane|plasma membrane|platelet alpha granule lumen	calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity			ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	4		Hepatocellular(203;0.0893)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	Sulindac(DB00605)	GGAGCTGACTCAGTGAAAACT	0.443		NaN											0	0	0	1	0	22	97				
ELOVL6	79071	broad.mit.edu	37	4	110972518	110972518	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr4:110972518C>T	uc003hzz.2	-	5	900	c.774G>A	c.(772-774)ATG>ATA	p.M258I	ELOVL6_uc003iaa.2_Missense_Mutation_p.M258I	NM_001130721	NP_001124193	Q9H5J4	ELOV6_HUMAN	elongation of very long chain fatty acids-like	258					fatty acid elongation, saturated fatty acid|long-chain fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process		fatty acid elongase activity|protein binding			haematopoietic_and_lymphoid_tissue(1)	1				OV - Ovarian serous cystadenocarcinoma(123;0.00462)		TTGTTTTCCTCATTTTGCCGA	0.428		NaN											0	0	0	1	0	17	65				
C4orf21	55345	broad.mit.edu	37	4	113507724	113507724	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr4:113507724C>T	uc003iau.2	-	13	4004	c.3793G>A	c.(3793-3795)GAG>AAG	p.E1265K	C4orf21_uc003iav.2_RNA	NM_018392	NP_060862	Q6ZU11	YD002_HUMAN	prematurely terminated mRNA decay factor-like	87						integral to membrane	zinc ion binding				0		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000676)		AAGCACAGCTCAGAGCCACTT	0.353		NaN											0	0	0	1	0	7	47				
TRPC3	7222	broad.mit.edu	37	4	122853555	122853555	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr4:122853555C>T	uc003ieg.2	-	2	932	c.858G>A	c.(856-858)TCG>TCA	p.S286S	TRPC3_uc010inr.2_Silent_p.S213S|TRPC3_uc003ief.2_Silent_p.S213S|TRPC3_uc011cgl.1_5'UTR	NM_001130698	NP_001124170	Q13507	TRPC3_HUMAN	transient receptor potential cation channel,	201	Cytoplasmic (Potential).				axon guidance|phototransduction|platelet activation	integral to plasma membrane	protein binding|store-operated calcium channel activity			ovary(2)	2						CATTGATCCTCGAGCGTGAGT	0.612		NaN											0	0	0	1	0	13	55				
KIAA1109	84162	broad.mit.edu	37	4	123237989	123237989	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr4:123237989G>A	uc003ieh.2	+	60	10687	c.10642G>A	c.(10642-10644)GAA>AAA	p.E3548K	KIAA1109_uc003iel.1_Missense_Mutation_p.E1483K	NM_015312	NP_056127	Q2LD37	K1109_HUMAN	fragile site-associated protein	3548					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				ovary(8)|skin(2)|pancreas(1)|central_nervous_system(1)	12						AGAACTGAATGAACAGGCCAA	0.313		NaN											0	0	0	1	0	13	52				
FAT4	79633	broad.mit.edu	37	4	126238455	126238455	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr4:126238455C>G	uc003ifj.3	+	1	889	c.889C>G	c.(889-891)CAA>GAA	p.Q297E		NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	FAT tumor suppressor homolog 4 precursor	297	Cadherin 3.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						GACCCCCTTCCAAATGGACCC	0.662		NaN									OREG0016317	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	1	0	17	63				
FAT4	79633	broad.mit.edu	37	4	126370600	126370600	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr4:126370600C>G	uc003ifj.3	+	9	8429	c.8429C>G	c.(8428-8430)TCT>TGT	p.S2810C	FAT4_uc011cgp.1_Missense_Mutation_p.S1108C|FAT4_uc003ifi.1_Missense_Mutation_p.S288C	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	FAT tumor suppressor homolog 4 precursor	2810	Cadherin 27.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						AGTAGATATTCTATAATGGAT	0.388		NaN											0	0	0	1	0	18	63				
NAA15	80155	broad.mit.edu	37	4	140297588	140297588	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr4:140297588G>A	uc003ihu.1	+	16	2273	c.2017G>A	c.(2017-2019)GAG>AAG	p.E673K		NM_057175	NP_476516	Q9BXJ9	NAA15_HUMAN	NMDA receptor regulated 1	673	TPR 8.				angiogenesis|cell differentiation|N-terminal protein amino acid acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|transcription factor complex	protein binding			ovary(1)|skin(1)	2						GAACAAGATAGAGACTCATCT	0.338		NaN											0	0	0	1	0	18	44				
MAML3	55534	broad.mit.edu	37	4	140811578	140811578	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr4:140811578C>G	uc003ihz.1	-	2	1764	c.1012G>C	c.(1012-1014)GAG>CAG	p.E338Q	MAML3_uc011chd.1_Intron	NM_018717	NP_061187	Q96JK9	MAML3_HUMAN	mastermind-like 3	338					Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity			ovary(1)	1	all_hematologic(180;0.162)					AATTCTGGCTCCTTCTTCTCT	0.512		NaN											0	0	0	1	0	18	56				
TBC1D9	23158	broad.mit.edu	37	4	141545369	141545369	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr4:141545369C>G	uc010ioj.2	-	20	3251	c.2979G>C	c.(2977-2979)AAG>AAC	p.K993N		NM_015130	NP_055945	Q6ZT07	TBCD9_HUMAN	TBC1 domain family, member 9 (with GRAM domain)	993						intracellular	calcium ion binding|Rab GTPase activator activity			ovary(1)	1	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)				AATTTGCTCTCTTCCCTACAA	0.353		NaN											0	0	0	1	0	5	10				
OTUD4	54726	broad.mit.edu	37	4	146077090	146077090	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr4:146077090C>T	uc003ika.3	-	8	631	c.493G>A	c.(493-495)GAG>AAG	p.E165K	OTUD4_uc003ijz.3_Missense_Mutation_p.E165K	NM_001102653	NP_001096123	Q01804	OTUD4_HUMAN	OTU domain containing 4 protein isoform 3	230				E -> EQ (in Ref. 1; BAG63836, 3; EAX05045/EAX05046 and 7; AAI18573/ AAI18654).			protein binding			ovary(2)|breast(1)	3	all_hematologic(180;0.151)					AAAAATACCTCATTGCCTGAC	0.308		NaN											0	0	0	1	0	7	33				
SH3D19	152503	broad.mit.edu	37	4	152096430	152096430	+	Nonsense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr4:152096430G>C	uc010ipl.1	-	7	1176	c.86C>G	c.(85-87)TCA>TGA	p.S29*	SH3D19_uc003imc.2_Nonsense_Mutation_p.S29*|SH3D19_uc003ime.2_Nonsense_Mutation_p.S29*|SH3D19_uc010ipm.2_Nonsense_Mutation_p.S29*	NM_001009555	NP_001009555	Q5HYK7	SH319_HUMAN	SH3 domain containing 19 isoform a	29					cellular membrane organization|positive regulation of membrane protein ectodomain proteolysis|post-Golgi vesicle-mediated transport	cytosol|Golgi apparatus|nucleus|plasma membrane	proline-rich region binding			ovary(1)|skin(1)	2	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.138)				GGGCAGTCCTGAGGTTTCTAT	0.433		NaN											0	0	0	1	0	38	122				
FHDC1	85462	broad.mit.edu	37	4	153897464	153897464	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr4:153897464C>T	uc003inf.2	+	11	3096	c.3021C>T	c.(3019-3021)TCC>TCT	p.S1007S		NM_033393	NP_203751	Q9C0D6	FHDC1_HUMAN	FH2 domain containing 1	1007					actin cytoskeleton organization		actin binding			large_intestine(1)|ovary(1)	2	all_hematologic(180;0.093)					GCGCCCACTCCGAGGGCCCTG	0.622		NaN											0	0	0	1	0	23	83				
KIAA0922	23240	broad.mit.edu	37	4	154514972	154514972	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr4:154514972G>C	uc003inm.3	+	19	1993	c.1941G>C	c.(1939-1941)ATG>ATC	p.M647I	KIAA0922_uc010ipp.2_Missense_Mutation_p.M648I|KIAA0922_uc010ipq.2_Missense_Mutation_p.M416I	NM_015196	NP_056011	A2VDJ0	T131L_HUMAN	hypothetical protein LOC23240 isoform 2	647	Extracellular (Potential).					integral to membrane				upper_aerodigestive_tract(1)|ovary(1)	2	all_hematologic(180;0.093)	Renal(120;0.118)				ATATGCAGATGATTAATTTCA	0.373		NaN											0	0	0	1	0	8	36				
TLR2	7097	broad.mit.edu	37	4	154625437	154625437	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr4:154625437G>C	uc003inq.2	+	3	1597	c.1378G>C	c.(1378-1380)GAA>CAA	p.E460Q	TLR2_uc003inr.2_Missense_Mutation_p.E460Q|TLR2_uc003ins.2_Missense_Mutation_p.E460Q	NM_003264	NP_003255	O60603	TLR2_HUMAN	toll-like receptor 2 precursor	460	LRR 12.|Extracellular (Potential).				cellular response to diacyl bacterial lipopeptide|cellular response to lipoteichoic acid|cellular response to triacyl bacterial lipopeptide|detection of diacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|I-kappaB phosphorylation|induction of apoptosis|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of interferon-beta production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of Wnt receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytoplasm|integral to plasma membrane|Toll-like receptor 1-Toll-like receptor 2 protein complex	Gram-positive bacterial cell surface binding|lipopolysaccharide receptor activity|peptidoglycan binding|protein heterodimerization activity|transmembrane receptor activity|triacyl lipopeptide binding			ovary(1)|lung(1)|breast(1)	3	all_hematologic(180;0.093)	Renal(120;0.117)				CAAGACACTGGAAATTTTAGA	0.358		NaN											0	0	0	1	0	26	56				
SFRP2	6423	broad.mit.edu	37	4	154702903	154702903	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr4:154702903C>T	uc003inv.1	-	3	829	c.588G>A	c.(586-588)CTG>CTA	p.L196L		NM_003013	NP_003004	Q96HF1	SFRP2_HUMAN	secreted frizzled-related protein 2 precursor	196	NTR.				brain development|cardiac left ventricle morphogenesis|cell-cell signaling|dermatome development|hemopoietic stem cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell growth|negative regulation of cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of transcription, DNA-dependent|outflow tract morphogenesis|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell adhesion mediated by integrin|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of fat cell differentiation|positive regulation of peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter|regulation of stem cell division|sclerotome development	cytoplasm|extracellular matrix|extracellular space|plasma membrane	fibronectin binding|integrin binding|PDZ domain binding|receptor agonist activity|Wnt receptor activity|Wnt-protein binding			ovary(1)|central_nervous_system(1)	2	all_hematologic(180;0.093)	Renal(120;0.117)				CTTTTATTTTCAGTGCTATGA	0.458		NaN											0	0	0	1	0	30	98				
DCHS2	54798	broad.mit.edu	37	4	155180751	155180751	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr4:155180751G>A	uc003inw.2	-	20	5370	c.5370C>T	c.(5368-5370)AGC>AGT	p.S1790S		NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN	dachsous 2 isoform 1	1790	Cadherin 16.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|pancreas(1)	4	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		CCTGGTAAATGCTTTGTTCAA	0.328		NaN											0	0	0	1	0	11	146				
ADAM29	11086	broad.mit.edu	37	4	175898316	175898316	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr4:175898316C>T	uc003iuc.2	+	5	2310	c.1640C>T	c.(1639-1641)TCA>TTA	p.S547L	ADAM29_uc003iud.2_Missense_Mutation_p.S547L|ADAM29_uc010irr.2_Missense_Mutation_p.S547L|ADAM29_uc011cki.1_Missense_Mutation_p.S547L	NM_014269	NP_055084	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29 preproprotein	547	Cys-rich.|Extracellular (Potential).				proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding			skin(5)|central_nervous_system(3)|ovary(3)|large_intestine(2)|lung(2)|pancreas(1)	16		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		TGTAATATCTCAGATGTCCAG	0.388		NaN											0	0	0	1	0	32	109				
SLC6A19	340024	broad.mit.edu	37	5	1208934	1208934	+	Silent	SNP	C	C	T	rs146678323	byFrequency	TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr5:1208934C>T	uc003jbw.3	+	2	332	c.276C>T	c.(274-276)ATC>ATT	p.I92I		NM_001003841	NP_001003841	Q695T7	S6A19_HUMAN	solute carrier family 6, member 19	92	Cytoplasmic (Potential).				cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity				0	all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10)		Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			AGTTCGCCATCGGGCAGCGGC	0.667		NaN											0	0	0	1	0	36	82				
IRX4	50805	broad.mit.edu	37	5	1879900	1879900	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr5:1879900C>T	uc003jcz.2	-	4	573	c.454G>A	c.(454-456)GAG>AAG	p.E152K	IRX4_uc011cmf.1_Missense_Mutation_p.E13K	NM_016358	NP_057442	P78413	IRX4_HUMAN	iroquois homeobox 4	152	Homeobox; TALE-type.				heart development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0				GBM - Glioblastoma multiforme(108;0.242)		CTGGTGGTCTCGCGCGTGGCG	0.642		NaN											0	0	0	1	0	40	93				
ADCY2	108	broad.mit.edu	37	5	7773074	7773074	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr5:7773074G>A	uc003jdz.1	+	18	2311	c.2244G>A	c.(2242-2244)CTG>CTA	p.L748L	ADCY2_uc011cmo.1_Silent_p.L568L	NM_020546	NP_065433	Q08462	ADCY2_HUMAN	adenylate cyclase 2	748	Helical; (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding			ovary(5)|pancreas(1)|skin(1)	7						TTCTGGGACTGATATCCTGTT	0.463		NaN											0	0	0	1	0	41	116				
SEMA5A	9037	broad.mit.edu	37	5	9136626	9136626	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr5:9136626G>C	uc003jek.2	-	13	2301	c.1589C>G	c.(1588-1590)TCT>TGT	p.S530C		NM_003966	NP_003957	Q13591	SEM5A_HUMAN	semaphorin 5A precursor	530	Extracellular (Potential).				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane				ovary(1)|central_nervous_system(1)	2						CGGACACGCAGAGATGCTCTG	0.577		NaN											0	0	0	1	0	11	46				
CDH6	1004	broad.mit.edu	37	5	31316392	31316392	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr5:31316392G>A	uc003jhe.1	+	9	1794	c.1468G>A	c.(1468-1470)GAG>AAG	p.E490K	CDH6_uc003jhd.1_Missense_Mutation_p.E490K	NM_004932	NP_004923	P55285	CADH6_HUMAN	cadherin 6, type 2 preproprotein	490	Extracellular (Potential).|Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding			ovary(4)|skin(2)|large_intestine(1)	7						AGAATTTGCTGAGTTCTATGA	0.333		NaN											0	0	0	1	0	6	27				
PDZD2	23037	broad.mit.edu	37	5	32093126	32093126	+	Nonsense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr5:32093126C>G	uc003jhl.2	+	21	8229	c.7841C>G	c.(7840-7842)TCA>TGA	p.S2614*	PDZD2_uc003jhm.2_Nonsense_Mutation_p.S2614*	NM_178140	NP_835260	O15018	PDZD2_HUMAN	PDZ domain containing 2	2614					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				central_nervous_system(4)|ovary(2)|skin(2)|large_intestine(1)	9						AAAGCACAATCAGAGGTGAGT	0.537		NaN									OREG0016544	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	1	0	19	80				
RXFP3	51289	broad.mit.edu	37	5	33937997	33937997	+	Silent	SNP	C	C	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr5:33937997C>A	uc003jic.1	+	1	1509	c.1152C>A	c.(1150-1152)CTC>CTA	p.L384L		NM_016568	NP_057652	Q9NSD7	RL3R1_HUMAN	relaxin/insulin-like family peptide receptor 3	384	Cytoplasmic (Potential).					integral to plasma membrane	N-formyl peptide receptor activity			upper_aerodigestive_tract(1)	1						ACAGCTGCCTCAACCCCGTCC	0.617		NaN											1	0	3.50607e-19	1	3.71915e-19	51	147				
NIPBL	25836	broad.mit.edu	37	5	36953855	36953855	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr5:36953855C>T	uc003jkl.3	+	2	556	c.57C>T	c.(55-57)CTC>CTT	p.L19L	NIPBL_uc003jkk.3_Silent_p.L19L	NM_133433	NP_597677	Q6KC79	NIPBL_HUMAN	delangin isoform A	19					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding			ovary(4)|lung(2)|large_intestine(1)|breast(1)|kidney(1)	9	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			TTGCTAGTCTCACAGACCGTA	0.348		NaN											0	0	0	1	0	19	52				
RICTOR	253260	broad.mit.edu	37	5	38966820	38966820	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr5:38966820G>C	uc003jlp.2	-	15	1246	c.1222C>G	c.(1222-1224)CTA>GTA	p.L408V	RICTOR_uc003jlo.2_Missense_Mutation_p.L408V|RICTOR_uc010ivf.2_Missense_Mutation_p.L123V	NM_152756	NP_689969	Q6R327	RICTR_HUMAN	rapamycin-insensitive companion of mTOR	408					actin cytoskeleton reorganization|embryo development|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|regulation of protein kinase B signaling cascade|T cell costimulation	cytosol|TORC2 complex	protein binding			ovary(3)|lung(3)|skin(2)|kidney(1)|central_nervous_system(1)	10	all_lung(31;0.000396)					ACTTCAACTAGACCCTTTGAA	0.274		NaN											0	0	0	1	0	8	19				
FYB	2533	broad.mit.edu	37	5	39202544	39202544	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr5:39202544C>G	uc003jls.2	-	1	586	c.519G>C	c.(517-519)TTG>TTC	p.L173F	FYB_uc003jlt.2_Missense_Mutation_p.L173F|FYB_uc003jlu.2_Missense_Mutation_p.L173F|FYB_uc011cpl.1_Missense_Mutation_p.L183F	NM_199335	NP_955367	O15117	FYB_HUMAN	FYN binding protein (FYB-120/130) isoform 2	173					cell junction assembly|immune response|intracellular protein kinase cascade|NLS-bearing substrate import into nucleus|protein phosphorylation|T cell receptor signaling pathway	cytosol|nucleus	protein binding			ovary(2)	2	all_lung(31;0.000343)		Epithelial(62;0.235)			TAACCCCAGTCAATTTGGGAA	0.498		NaN											0	0	0	1	0	28	101				
FGF10	2255	broad.mit.edu	37	5	44388630	44388630	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr5:44388630G>C	uc003jog.1	-	1	155	c.155C>G	c.(154-156)TCT>TGT	p.S52C		NM_004465	NP_004456	O15520	FGF10_HUMAN	fibroblast growth factor 10 precursor	52	Poly-Ser.				actin cytoskeleton reorganization|activation of MAPK activity|bud outgrowth involved in lung branching|ERK1 and ERK2 cascade|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|insulin receptor signaling pathway|lacrimal gland development|lung saccule development|mesonephros development|negative regulation of cell cycle arrest|positive regulation of ATPase activity|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of DNA repair|positive regulation of DNA replication|positive regulation of epithelial cell migration|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of ERK1 and ERK2 cascade|positive regulation of hair follicle cell proliferation|positive regulation of keratinocyte migration|positive regulation of keratinocyte proliferation|positive regulation of lymphocyte proliferation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of Ras protein signal transduction|positive regulation of transcription, DNA-dependent|positive regulation of urothelial cell proliferation|protein localization at cell surface|radial glial cell differentiation|regulation of saliva secretion|response to protein stimulus|secretion by lung epithelial cell involved in lung growth|tear secretion|thymus development|urothelial cell proliferation	cell surface|extracellular space|nucleus|plasma membrane	chemoattractant activity|growth factor activity|heparin binding|type 2 fibroblast growth factor receptor binding			lung(3)	3	Lung NSC(6;1.12e-06)					GGAGGAAGAAGAGTTGGTGGC	0.547		NaN											0	0	0	1	0	28	49				
MRPS30	10884	broad.mit.edu	37	5	44811174	44811174	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr5:44811174G>A	uc003joh.2	+	2	703	c.665G>A	c.(664-666)CGA>CAA	p.R222Q	MRPS30_uc003joi.1_RNA	NM_016640	NP_057724	Q9NP92	RT30_HUMAN	mitochondrial ribosomal protein S30	222					apoptosis|translation	mitochondrion|ribosome	structural constituent of ribosome				0	Lung NSC(6;8.08e-07)					CGTGGTCATCGAAGAGGTCGA	0.373		NaN											0	0	0	1	0	15	47				
IL31RA	133396	broad.mit.edu	37	5	55206499	55206499	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr5:55206499C>T	uc003jql.2	+	12	1706	c.1641C>T	c.(1639-1641)TTC>TTT	p.F547F	IL31RA_uc003jqm.2_Silent_p.F515F|IL31RA_uc003jqn.2_Silent_p.F547F|IL31RA_uc010iwa.1_Silent_p.F510F|IL31RA_uc003jqo.2_Silent_p.F405F	NM_139017	NP_620586	Q8NI17	IL31R_HUMAN	gp130-like monocyte receptor	515	Extracellular (Potential).				anti-apoptosis|defense response|homeostatic process|JAK-STAT cascade|macrophage differentiation|MAPKKK cascade|monocyte differentiation|negative regulation of macrophage activation|positive regulation of cell proliferation|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|transmembrane receptor protein tyrosine kinase signaling pathway	integral to membrane|plasma membrane	cytokine receptor activity|protein kinase binding|transcription coactivator activity			ovary(1)	1		Lung NSC(810;6.93e-05)|Prostate(74;0.00741)|Breast(144;0.0544)|Ovarian(174;0.223)				CATTGTCATTCAGTGAGTATT	0.463		NaN											0	0	0	1	0	34	106				
IL6ST	3572	broad.mit.edu	37	5	55238517	55238517	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr5:55238517G>A	uc003jqq.2	-	16	2255	c.2000C>T	c.(1999-2001)TCA>TTA	p.S667L	IL6ST_uc010iwb.2_Missense_Mutation_p.S606L|IL6ST_uc010iwc.2_Missense_Mutation_p.H180Y|IL6ST_uc010iwd.2_5'UTR|IL6ST_uc011cqk.1_Missense_Mutation_p.S378L|IL6ST_uc003jqr.2_3'UTR	NM_002184	NP_002175	P40189	IL6RB_HUMAN	interleukin 6 signal transducer isoform 1	667	Cytoplasmic (Potential).				interleukin-6-mediated signaling pathway|leukemia inhibitory factor signaling pathway|negative regulation of interleukin-6-mediated signaling pathway|positive regulation of anti-apoptosis|positive regulation of cardiac muscle hypertrophy|positive regulation of osteoblast differentiation|positive regulation of T cell proliferation|positive regulation of tyrosine phosphorylation of Stat1 protein|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation vascular endothelial growth factor production	ciliary neurotrophic factor receptor complex|extracellular region|extracellular space|interleukin-6 receptor complex|oncostatin-M receptor complex	ciliary neurotrophic factor receptor activity|ciliary neurotrophic factor receptor binding|growth factor binding|protein homodimerization activity			large_intestine(1)|ovary(1)	2		Lung NSC(810;8.69e-05)|Prostate(74;0.00308)|Breast(144;0.0544)|Ovarian(174;0.223)				AGTGTGAGGTGACCACTGGGC	0.368		NaN	O		hepatocellular ca								0	0	0	1	0	10	34				
ADAMTS6	11174	broad.mit.edu	37	5	64520832	64520832	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr5:64520832C>G	uc003jtp.2	-	17	2924	c.2110G>C	c.(2110-2112)GAT>CAT	p.D704H	ADAMTS6_uc003jto.2_RNA|ADAMTS6_uc003jtq.2_RNA|ADAMTS6_uc003jtr.1_Missense_Mutation_p.D325H	NM_197941	NP_922932	Q9UKP5	ATS6_HUMAN	ADAM metallopeptidase with thrombospondin type 1	704					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding				0		Lung NSC(167;2.44e-06)|Prostate(74;0.014)|Ovarian(174;0.0549)|Breast(144;0.111)|Colorectal(97;0.235)		Lung(70;0.00942)		CGACATCTATCTTCCCTAGCA	0.443		NaN											0	0	0	1	0	7	39				
PPWD1	23398	broad.mit.edu	37	5	64863366	64863366	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr5:64863366G>C	uc003jtv.3	+	2	230	c.223G>C	c.(223-225)GAT>CAT	p.D75H	PPWD1_uc011cqv.1_Missense_Mutation_p.D45H|PPWD1_uc011cqw.1_Intron	NM_015342	NP_056157	Q96BP3	PPWD1_HUMAN	peptidylprolyl isomerase domain and WD repeat	75					protein folding	catalytic step 2 spliceosome	peptidyl-prolyl cis-trans isomerase activity			ovary(1)	1		Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186)		Lung(70;0.00451)		AGTCTATCTTGATAATCTCCC	0.313		NaN											0	0	0	1	0	11	36				
CDK7	1022	broad.mit.edu	37	5	68548244	68548244	+	Splice_Site	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr5:68548244G>C	uc003jvs.3	+	3	308	c.127_splice	c.e3-1	p.I43_splice	CDK7_uc010ixd.1_Splice_Site_p.I43_splice|CDK7_uc003jvt.3_Splice_Site_p.I2_splice|CDK7_uc003jvu.3_Splice_Site	NM_001799	NP_001790	P50613	CDK7_HUMAN	cyclin-dependent kinase 7						androgen receptor signaling pathway|cell division|cell proliferation|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|regulation of cyclin-dependent protein kinase activity|S phase of mitotic cell cycle|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	holo TFIIH complex|mitochondrion	androgen receptor binding|ATP binding|cyclin-dependent protein kinase activity|DNA-dependent ATPase activity|protein C-terminus binding|RNA polymerase II carboxy-terminal domain kinase activity|transcription coactivator activity			lung(1)	1		Lung NSC(167;7.26e-05)|Prostate(74;0.00634)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;2.98e-56)|Epithelial(20;3.54e-52)|all cancers(19;9.11e-48)|Lung(70;0.0185)		GTTTCTACCAGATCAAACTTG	0.259		NaN						NER					0	0	0	1	0	32	116				
POLK	51426	broad.mit.edu	37	5	74892360	74892360	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr5:74892360G>A	uc003kdw.2	+	13	1938	c.1842G>A	c.(1840-1842)GAG>GAA	p.E614E	POLK_uc003kdx.2_RNA|POLK_uc003kdy.2_RNA|POLK_uc010izq.2_Silent_p.E416E|POLK_uc003kec.2_Silent_p.E524E|POLK_uc010izr.2_RNA|POLK_uc010izs.2_RNA|POLK_uc003ked.2_Intron|POLK_uc003kee.2_Intron|POLK_uc003kef.2_Silent_p.E524E	NM_016218	NP_057302	Q9UBT6	POLK_HUMAN	DNA-directed DNA polymerase kappa	614					DNA replication|nucleotide-excision repair, DNA gap filling	nucleus	damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding			ovary(2)|kidney(2)	4		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;2.9e-54)|all cancers(79;1.27e-42)		AAATATCAGAGAATTCAGATG	0.368		NaN						DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage					0	0	0	1	0	18	103				
DMGDH	29958	broad.mit.edu	37	5	78322343	78322343	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr5:78322343G>A	uc003kfs.2	-	13	2100	c.2094C>T	c.(2092-2094)ATC>ATT	p.I698I	DMGDH_uc011cte.1_Silent_p.I548I|DMGDH_uc011ctf.1_Silent_p.I497I|DMGDH_uc011ctg.1_Silent_p.I318I	NM_013391	NP_037523	Q9UI17	M2GD_HUMAN	dimethylglycine dehydrogenase precursor	698					choline metabolic process|glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|dimethylglycine dehydrogenase activity|electron carrier activity			ovary(2)|liver(1)|skin(1)	4		all_lung(232;0.000638)|Lung NSC(167;0.00173)|Ovarian(174;0.0262)|Prostate(461;0.192)		OV - Ovarian serous cystadenocarcinoma(54;6.52e-45)|Epithelial(54;5.96e-40)|all cancers(79;3.56e-35)		CTGCATTCATGATAGCGTCAT	0.512		NaN											0	0	0	1	0	22	74				
MSH3	4437	broad.mit.edu	37	5	79970869	79970869	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr5:79970869C>T	uc003kgz.2	+	7	1348	c.1095C>T	c.(1093-1095)ACC>ACT	p.T365T		NM_002439	NP_002430	P20585	MSH3_HUMAN	mutS homolog 3	365					maintenance of DNA repeat elements|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|somatic recombination of immunoglobulin gene segments	MutSbeta complex|nuclear chromosome	ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|enzyme binding|loop DNA binding|Y-form DNA binding			lung(2)|ovary(1)|breast(1)	4		Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244)		OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33)		ATACTTCTACCAGCTATCTTC	0.323		NaN						MMR					0	0	0	1	0	22	65				
CKMT2	1160	broad.mit.edu	37	5	80553673	80553673	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr5:80553673G>C	uc003khc.3	+	8	1119	c.877G>C	c.(877-879)GAA>CAA	p.E293Q	RNU5E_uc011cto.1_Intron|CKMT2_uc010jaq.2_Missense_Mutation_p.E293Q|CKMT2_uc003khd.3_Missense_Mutation_p.E293Q|uc003khe.1_Intron|uc003khf.1_Intron|uc003khg.1_Intron	NM_001825	NP_001816	P17540	KCRS_HUMAN	sarcomeric mitochondrial creatine kinase	293	Phosphagen kinase C-terminal.				creatine metabolic process|muscle contraction	mitochondrial inner membrane	ATP binding|creatine kinase activity				0		Lung NSC(167;0.00475)|all_lung(232;0.00502)|Ovarian(174;0.0336)		OV - Ovarian serous cystadenocarcinoma(54;2.29e-44)|Epithelial(54;1.05e-38)|all cancers(79;4.15e-34)	Creatine(DB00148)	TGGACTAAAAGAAGTAAGATG	0.358		NaN											0	0	0	1	0	8	33				
SSBP2	23635	broad.mit.edu	37	5	80742738	80742738	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr5:80742738G>A	uc003kho.2	-	12	938	c.727C>T	c.(727-729)CCT>TCT	p.P243S	RNU5E_uc011cto.1_Intron|SSBP2_uc010jar.2_Missense_Mutation_p.P131S|SSBP2_uc003khn.2_Missense_Mutation_p.P117S|SSBP2_uc003khp.2_Missense_Mutation_p.P251S|SSBP2_uc011ctp.1_Missense_Mutation_p.P223S|SSBP2_uc011ctq.1_Missense_Mutation_p.P221S|SSBP2_uc011ctr.1_Missense_Mutation_p.P213S	NM_012446	NP_036578	P81877	SSBP2_HUMAN	single-stranded DNA binding protein 2	243	Gly-rich.|Pro-rich.				regulation of transcription, DNA-dependent	cytoplasm|nucleus	single-stranded DNA binding		SSBP2/JAK2(4)	haematopoietic_and_lymphoid_tissue(4)|skin(1)	5		Lung NSC(167;0.00154)|all_lung(232;0.00179)|Ovarian(174;0.0338)		OV - Ovarian serous cystadenocarcinoma(54;1.07e-41)|Epithelial(54;2.79e-35)|all cancers(79;1.18e-29)		CCTCCTGGAGGACCCTAAATA	0.343		NaN											0	0	0	1	0	14	32				
GPR98	84059	broad.mit.edu	37	5	89923556	89923556	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr5:89923556G>C	uc003kju.2	+	7	1297	c.1201G>C	c.(1201-1203)GAA>CAA	p.E401Q	GPR98_uc003kjt.2_5'UTR	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98 precursor	401	Extracellular (Potential).				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			ovary(11)|central_nervous_system(3)|pancreas(2)	16		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TGTTTTGTTTGAAAGGACAGT	0.299		NaN											0	0	0	1	0	8	39				
MCTP1	79772	broad.mit.edu	37	5	94278072	94278072	+	Silent	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr5:94278072C>G	uc003kkx.2	-	4	1041	c.1041G>C	c.(1039-1041)CTG>CTC	p.L347L	MCTP1_uc003kkv.2_Silent_p.L126L|MCTP1_uc003kkw.2_Silent_p.L126L|MCTP1_uc003kkz.2_Silent_p.L8L	NM_024717	NP_078993	Q6DN14	MCTP1_HUMAN	multiple C2 domains, transmembrane 1 isoform L	347					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)		CCAATTGTGTCAGATCCAGAA	0.313		NaN											0	0	0	1	0	18	45				
ARSK	153642	broad.mit.edu	37	5	94936565	94936565	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr5:94936565C>T	uc003kld.2	+	7	1269	c.1111C>T	c.(1111-1113)CCT>TCT	p.P371S	ARSK_uc010jbg.2_Missense_Mutation_p.P212S|ARSK_uc011cum.1_RNA	NM_198150	NP_937793	Q6UWY0	ARSK_HUMAN	arylsulfatase K precursor	371						extracellular region	arylsulfatase activity|metal ion binding			pancreas(1)	1		all_cancers(142;3.38e-06)|all_epithelial(76;6.57e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.00473)		all cancers(79;6.5e-16)		TGCTGGAATTCCTCTGCCTCA	0.333		NaN											0	0	0	1	0	20	69				
ERAP2	64167	broad.mit.edu	37	5	96237258	96237258	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr5:96237258T>G	uc003kmq.2	+	11	2331	c.1621T>G	c.(1621-1623)TGG>GGG	p.W541G	uc003kmo.1_Intron|ERAP2_uc003kmt.2_Missense_Mutation_p.W541G|ERAP2_uc003kmr.2_RNA|ERAP2_uc003kms.2_Missense_Mutation_p.W490G|ERAP2_uc003kmu.2_RNA	NM_022350	NP_071745	Q6P179	ERAP2_HUMAN	endoplasmic reticulum aminopeptidase 2	541	Lumenal (Potential).				antigen processing and presentation of endogenous peptide antigen via MHC class I|proteolysis|regulation of blood pressure	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding				0		all_cancers(142;0.000311)|all_epithelial(76;1.54e-06)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0596)|Ovarian(225;0.105)		COAD - Colon adenocarcinoma(37;0.0703)		GATGACTACATGGACTCTCCA	0.498		NaN											0	0	0	1	0	25	76				
DCP2	167227	broad.mit.edu	37	5	112321592	112321592	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr5:112321592G>T	uc003kqh.2	+	2	312	c.114G>T	c.(112-114)CAG>CAT	p.Q38H	DCP2_uc011cwa.1_Intron	NM_152624	NP_689837	Q8IU60	DCP2_HUMAN	DCP2 decapping enzyme	38					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytoplasmic mRNA processing body|cytosol|nucleus|RNA-induced silencing complex	exoribonuclease activity, producing 5'-phosphomonoesters|manganese ion binding|protein binding|protein binding|RNA binding				0		all_cancers(142;4.41e-05)|all_epithelial(76;3.65e-07)|Colorectal(10;0.00115)|Prostate(80;0.00133)|Ovarian(225;0.0443)		OV - Ovarian serous cystadenocarcinoma(64;6.98e-08)|Epithelial(69;7.87e-08)|all cancers(49;1.06e-05)|COAD - Colon adenocarcinoma(37;0.0123)|Colorectal(14;0.0171)		TGTGTTTTCAGATTGAACTTG	0.373		NaN											1	0	4.2108e-06	1	4.32054e-06	32	86				
DMXL1	1657	broad.mit.edu	37	5	118500366	118500366	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr5:118500366G>C	uc003ksd.2	+	20	5048	c.4867G>C	c.(4867-4869)GAA>CAA	p.E1623Q	DMXL1_uc010jcl.1_Missense_Mutation_p.E1623Q	NM_005509	NP_005500	Q9Y485	DMXL1_HUMAN	Dmx-like 1	1623										ovary(2)	2		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		CAAATGCATAGAAAAAGTAAG	0.408		NaN											0	0	0	1	0	21	83				
ZNF608	57507	broad.mit.edu	37	5	123982976	123982976	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr5:123982976G>C	uc003ktq.1	-	4	3224	c.3101C>G	c.(3100-3102)TCT>TGT	p.S1034C	ZNF608_uc003ktr.1_Intron|ZNF608_uc003kts.1_Missense_Mutation_p.S1034C|ZNF608_uc003ktt.1_Missense_Mutation_p.S1034C|ZNF608_uc003ktp.1_5'Flank	NM_020747	NP_065798	Q9ULD9	ZN608_HUMAN	zinc finger protein 608	1034						intracellular	zinc ion binding			skin(3)|ovary(2)|lung(1)	6		all_cancers(142;0.186)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)		ATCTTCCTCAGACTCCTTCTT	0.493		NaN											0	0	0	1	0	43	134				
FNIP1	96459	broad.mit.edu	37	5	130982830	130982830	+	Silent	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr5:130982830C>G	uc003kvs.1	-	17	3517	c.3375G>C	c.(3373-3375)CTG>CTC	p.L1125L	RAPGEF6_uc003kvp.1_Intron|FNIP1_uc003kvt.1_Silent_p.L1097L	NM_133372	NP_588613	Q8TF40	FNIP1_HUMAN	folliculin interacting protein 1 isoform 1	1125					regulation of protein phosphorylation	cytoplasm	protein binding			pancreas(1)|skin(1)	2		all_cancers(142;0.00347)|Lung NSC(810;0.106)|all_lung(232;0.123)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0665)		TCTGCCCCCTCAGGTATTCAG	0.468		NaN											0	0	0	1	0	34	128				
FSTL4	23105	broad.mit.edu	37	5	132652162	132652162	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr5:132652162C>G	uc003kyn.1	-	5	810	c.592G>C	c.(592-594)GAA>CAA	p.E198Q		NM_015082	NP_055897	Q6MZW2	FSTL4_HUMAN	follistatin-like 4 precursor	198	Potential.|EF-hand.					extracellular region	calcium ion binding			central_nervous_system(1)|skin(1)	2		all_cancers(142;0.244)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TGAGCCAGTTCGGAGCTGCTG	0.557		NaN											0	0	0	1	0	17	73				
SEC24A	10802	broad.mit.edu	37	5	134060783	134060783	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr5:134060783G>A	uc003kzs.2	+	23	3569	c.3281G>A	c.(3280-3282)TGA>TAA	p.*1094*	SEC24A_uc011cxu.1_Silent_p.*858*	NM_021982	NP_068817	O95486	SC24A_HUMAN	SEC24 related gene family, member A	1094					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	zinc ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GTGAATAAATGAATGAATGAA	0.308		NaN											0	0	0	1	0	6	18				
CATSPER3	347732	broad.mit.edu	37	5	134346119	134346119	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr5:134346119G>C	uc003lag.2	+	7	1061	c.993G>C	c.(991-993)TTG>TTC	p.L331F		NM_178019	NP_821138	Q86XQ3	CTSR3_HUMAN	cation channel, sperm associated 3	331					cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	calcium channel activity|voltage-gated ion channel activity			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			AGAAGACCTTGAGCCACACTG	0.463		NaN											0	0	0	1	0	39	69				
TIFAB	497189	broad.mit.edu	37	5	134785491	134785491	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr5:134785491G>A	uc003law.3	-	2	340	c.139C>T	c.(139-141)CAG>TAG	p.Q47*	C5orf20_uc003lav.2_5'Flank	NM_001099221	NP_001092691	Q6ZNK6	TIFAB_HUMAN	TIFA-related protein TIFAB	47	FHA.										0			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			AGCTGCAGCTGGAGGTGGGCG	0.672		NaN											0	0	0	1	0	27	75				
SPOCK1	6695	broad.mit.edu	37	5	136403437	136403437	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr5:136403437G>A	uc003lbo.2	-	5	747	c.556C>T	c.(556-558)CCT>TCT	p.P186S	SPOCK1_uc003lbp.2_Missense_Mutation_p.P186S	NM_004598	NP_004589	Q08629	TICN1_HUMAN	sparc/osteonectin, cwcv and kazal-like domains	186					cell adhesion|cell proliferation|cellular component movement|nervous system development|signal transduction	proteinaceous extracellular matrix	calcium ion binding			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GGTGGCTCAGGCTCTGGGAGA	0.547		NaN											0	0	0	1	0	37	92				
MATR3	9782	broad.mit.edu	37	5	138643397	138643397	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr5:138643397C>T	uc003ldu.2	+	5	720	c.293C>T	c.(292-294)TCT>TTT	p.S98F	MATR3_uc003lds.2_Missense_Mutation_p.S98F|MATR3_uc010jfb.2_Missense_Mutation_p.S98F|MATR3_uc003ldt.2_Intron|MATR3_uc003ldw.2_Missense_Mutation_p.S98F|MATR3_uc003ldx.2_Missense_Mutation_p.S98F|MATR3_uc010jfc.2_Missense_Mutation_p.S98F|MATR3_uc003ldy.2_Intron|MATR3_uc011czb.1_Intron|MATR3_uc003ldz.2_Missense_Mutation_p.S98F|MATR3_uc003lea.2_Missense_Mutation_p.S98F	NM_199189	NP_954659	P43243	MATR3_HUMAN	matrin 3	98						nuclear inner membrane|nuclear matrix	nucleotide binding|protein binding|RNA binding|structural molecule activity|zinc ion binding			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			CTCCCTTTATCTTCTCAACAC	0.443		NaN											0	0	0	1	0	24	77				
ANKHD1-EIF4EBP3	404734	broad.mit.edu	37	5	139865267	139865267	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr5:139865267C>T	uc003lfs.1	+	13	2216	c.2092C>T	c.(2092-2094)CCC>TCC	p.P698S	ANKHD1_uc003lfq.1_Missense_Mutation_p.P717S|ANKHD1_uc003lfr.2_Missense_Mutation_p.P698S|ANKHD1_uc003lft.1_Missense_Mutation_p.P178S|ANKHD1_uc003lfu.1_Missense_Mutation_p.P178S|ANKHD1_uc003lfv.1_Missense_Mutation_p.P28S	NM_020690	NP_065741	Q8IWZ2	Q8IWZ2_HUMAN	ANKHD1-EIF4EBP3 protein	698						cytoplasm|nucleus	RNA binding			ovary(6)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCTGTCAGTTCCCACCACAGA	0.383		NaN											0	0	0	1	0	19	41				
ANKHD1-EIF4EBP3	404734	broad.mit.edu	37	5	139907508	139907508	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr5:139907508G>A	uc003lfs.1	+	28	5262	c.5138G>A	c.(5137-5139)AGA>AAA	p.R1713K	ANKHD1_uc003lfr.2_Missense_Mutation_p.R1713K|ANKHD1-EIF4EBP3_uc011czh.1_Missense_Mutation_p.R452K|ANKHD1_uc003lfw.2_Missense_Mutation_p.R351K|ANKHD1_uc010jfl.2_Missense_Mutation_p.R148K|ANKHD1-EIF4EBP3_uc003lfx.1_5'Flank	NM_020690	NP_065741	Q8IWZ2	Q8IWZ2_HUMAN	ANKHD1-EIF4EBP3 protein	1713						cytoplasm|nucleus	RNA binding			ovary(6)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATAATGGGAAGAGGAGGATGC	0.378		NaN											0	0	0	1	0	7	29				
ANKHD1-EIF4EBP3	404734	broad.mit.edu	37	5	139907514	139907514	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr5:139907514G>T	uc003lfs.1	+	28	5268	c.5144G>T	c.(5143-5145)GGA>GTA	p.G1715V	ANKHD1_uc003lfr.2_Missense_Mutation_p.G1715V|ANKHD1-EIF4EBP3_uc011czh.1_Missense_Mutation_p.G454V|ANKHD1_uc003lfw.2_Missense_Mutation_p.G353V|ANKHD1_uc010jfl.2_Missense_Mutation_p.G150V|ANKHD1-EIF4EBP3_uc003lfx.1_5'Flank	NM_020690	NP_065741	Q8IWZ2	Q8IWZ2_HUMAN	ANKHD1-EIF4EBP3 protein	1715						cytoplasm|nucleus	RNA binding			ovary(6)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGAAGAGGAGGATGCAACATC	0.378		NaN											1	0	0.000274275	1	0.00027772	8	29				
ANKHD1-EIF4EBP3	404734	broad.mit.edu	37	5	139928595	139928595	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr5:139928595C>G	uc003lfs.1	+	35	7908	c.7784C>G	c.(7783-7785)TCC>TGC	p.S2595C	ANKHD1-EIF4EBP3_uc011czh.1_Missense_Mutation_p.S1351C|ANKHD1-EIF4EBP3_uc003lfx.1_Missense_Mutation_p.S740C|EIF4EBP3_uc003lfy.1_Missense_Mutation_p.P70A	NM_020690	NP_065741	Q8IWZ2	Q8IWZ2_HUMAN	ANKHD1-EIF4EBP3 protein	2595						cytoplasm|nucleus	RNA binding			ovary(6)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGTCACAACTCCTCCAACAGC	0.567		NaN											0	0	0	1	0	9	41				
PCDHA1	56147	broad.mit.edu	37	5	140166574	140166574	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr5:140166574C>T	uc003lhb.2	+	1	699	c.699C>T	c.(697-699)CTC>CTT	p.L233L	PCDHA1_uc003lha.2_Silent_p.L233L|PCDHA1_uc003lgz.2_Silent_p.L233L	NM_018900	NP_061723	Q9Y5I3	PCDA1_HUMAN	protocadherin alpha 1 isoform 1 precursor	233	Cadherin 2.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding			skin(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCACCGTCCTCGACGTTAATG	0.473		NaN											0	0	0	1	0	27	89				
PCDHA1	56147	broad.mit.edu	37	5	140168060	140168060	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr5:140168060G>A	uc003lhb.2	+	1	2185	c.2185G>A	c.(2185-2187)GAG>AAG	p.E729K	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lgz.2_Missense_Mutation_p.E729K	NM_018900	NP_061723	Q9Y5I3	PCDA1_HUMAN	protocadherin alpha 1 isoform 1 precursor	729	Cytoplasmic (Potential).				homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding			skin(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCGCCCACTGAGGGTGCGTA	0.642		NaN											0	0	0	1	0	24	75				
PCDHA4	56144	broad.mit.edu	37	5	140188377	140188377	+	Silent	SNP	G	G	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr5:140188377G>T	uc003lhi.2	+	1	1706	c.1605G>T	c.(1603-1605)GTG>GTT	p.V535V	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhh.1_Silent_p.V535V|PCDHA4_uc011daa.1_Silent_p.V535V	NM_018907	NP_061730	Q9UN74	PCDA4_HUMAN	protocadherin alpha 4 isoform 1 precursor	535	Cadherin 5.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			ovary(4)|skin(2)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGTTTCAGGTGACCGCTCGCG	0.652		NaN											1	0	2.66076e-39	1	2.84745e-39	59	106				
PCDHA8	56140	broad.mit.edu	37	5	140220969	140220969	+	Silent	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr5:140220969C>G	uc003lhs.2	+	1	63	c.63C>G	c.(61-63)CTC>CTG	p.L21L	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhr.1_Silent_p.L21L	NM_018911	NP_061734	Q9Y5H6	PCDA8_HUMAN	protocadherin alpha 8 isoform 1 precursor	21					homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			upper_aerodigestive_tract(1)|ovary(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTCTGCTCCTCGCAGCCTGGA	0.567		NaN											0	0	0	1	0	50	117				
PCDHA11	56138	broad.mit.edu	37	5	140248873	140248873	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr5:140248873G>A	uc003lia.2	+	1	1043	c.185G>A	c.(184-186)CGC>CAC	p.R62H	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc011dae.1_Missense_Mutation_p.R62H	NM_018902	NP_061725	Q9Y5I1	PCDAB_HUMAN	protocadherin alpha 11 isoform 1 precursor	62	Extracellular (Potential).|Cadherin 1.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGGTGCAGCGCCTGTTCCGG	0.617		NaN											0	0	0	1	0	65	257				
PCDHA13	56136	broad.mit.edu	37	5	140262519	140262519	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr5:140262519G>A	uc003lif.2	+	1	666	c.666G>A	c.(664-666)CTG>CTA	p.L222L	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc003lic.2_Intron|PCDHA13_uc003lie.1_Silent_p.L222L|PCDHA13_uc003lid.2_Silent_p.L222L	NM_018904	NP_061727	Q9Y5I0	PCDAD_HUMAN	protocadherin alpha 13 isoform 1 precursor	222	Extracellular (Potential).|Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|skin(2)|central_nervous_system(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AACCCGAGCTGACTGGCACAG	0.453		NaN											0	0	0	1	0	18	70				
PCDHB8	56128	broad.mit.edu	37	5	140559962	140559962	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr5:140559962G>C	uc011dai.1	+	1	2533	c.2347G>C	c.(2347-2349)GAA>CAA	p.E783Q	PCDHB16_uc003liv.2_5'Flank|PCDHB16_uc010jfw.1_5'Flank	NM_019120	NP_061993	Q9UN66	PCDB8_HUMAN	protocadherin beta 8 precursor	783	Cytoplasmic (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			skin(4)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTTTGGGCCAGAAATGGAACA	0.378		NaN											0	0	0	1	0	21	98				
PCDHB15	56121	broad.mit.edu	37	5	140625700	140625700	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr5:140625700G>C	uc003lje.2	+	1	554	c.554G>C	c.(553-555)CGA>CCA	p.R185P		NM_018935	NP_061758	Q9Y5E8	PCDBF_HUMAN	protocadherin beta 15 precursor	185	Extracellular (Potential).|Cadherin 2.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			ovary(2)|breast(2)|skin(1)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACTCGCACCCGAGGGGATGGC	0.517		NaN											0	0	0	1	0	27	62				
PCDHGC3	5098	broad.mit.edu	37	5	140857358	140857358	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr5:140857358G>A	uc003lkv.1	+	1	1790	c.1675G>A	c.(1675-1677)GAT>AAT	p.D559N	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkn.1_Intron|PCDHGA11_uc003lkp.1_Intron|PCDHGA11_uc003lkq.1_Intron|PCDHGA12_uc003lkt.1_Intron|PCDHGC3_uc003lku.1_Missense_Mutation_p.D559N|PCDHGC3_uc003lkw.1_Intron	NM_002588	NP_002579	Q9UN70	PCDGK_HUMAN	protocadherin gamma subfamily C, 3 isoform 1	559	Cadherin 5.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(1)|skin(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATTTGTCACTGATCGCAATGA	0.557		NaN									OREG0016865	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	1	0	26	80				
SH3RF2	153769	broad.mit.edu	37	5	145393552	145393552	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr5:145393552C>T	uc003lnt.2	+	5	1225	c.987C>T	c.(985-987)ATC>ATT	p.I329I	SH3RF2_uc011dbl.1_Silent_p.I329I	NM_152550	NP_689763	Q8TEC5	SH3R2_HUMAN	SH3 domain containing ring finger 2	329							ligase activity|protein phosphatase 1 binding|zinc ion binding			ovary(1)|skin(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CAGTGCTCATCAGCTCCAGCA	0.562		NaN											0	0	0	1	0	47	142				
PPP2R2B	5521	broad.mit.edu	37	5	145969658	145969658	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr5:145969658A>C	uc003loe.2	-	9	1709	c.1184T>G	c.(1183-1185)GTG>GGG	p.V395G	PPP2R2B_uc010jgm.2_Missense_Mutation_p.V384G|PPP2R2B_uc003log.3_Missense_Mutation_p.V395G|PPP2R2B_uc003lof.3_Missense_Mutation_p.V395G|PPP2R2B_uc003loi.3_Missense_Mutation_p.V398G|PPP2R2B_uc003loh.3_Missense_Mutation_p.V395G|PPP2R2B_uc003loj.3_Missense_Mutation_p.V375G|PPP2R2B_uc003lok.3_Missense_Mutation_p.V384G|PPP2R2B_uc011dbu.1_Missense_Mutation_p.V401G|PPP2R2B_uc011dbv.1_Missense_Mutation_p.V453G	NM_004576	NP_004567	Q00005	2ABB_HUMAN	beta isoform of regulatory subunit B55, protein	395					apoptosis|signal transduction	cytoskeleton|mitochondrial outer membrane|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity	p.V398G(1)		ovary(1)|prostate(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CTTGCCCCCCACACACACTTT	0.488		NaN											0	0	0	1	0	37	133				
ADRB2	154	broad.mit.edu	37	5	148206577	148206577	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr5:148206577C>T	uc003lpr.1	+	1	422	c.183C>T	c.(181-183)TTC>TTT	p.F61F	SH3TC2_uc003lpp.1_Intron	NM_000024	NP_000015	P07550	ADRB2_HUMAN	adrenergic, beta-2-, receptor, surface	61	Cytoplasmic.				activation of transmembrane receptor protein tyrosine kinase activity|desensitization of G-protein coupled receptor protein signaling pathway by arrestin|endosome to lysosome transport|positive regulation of MAPKKK cascade|receptor-mediated endocytosis	endosome|integral to plasma membrane|lysosome|receptor complex	beta2-adrenergic receptor activity|norepinephrine binding|potassium channel regulator activity|protein homodimerization activity			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Alprenolol(DB00866)|Arformoterol(DB01274)|Bambuterol(DB01408)|Bisoprolol(DB00612)|Bitolterol(DB00901)|Bretylium(DB01158)|Carteolol(DB00521)|Carvedilol(DB01136)|Clenbuterol(DB01407)|Desipramine(DB01151)|Epinephrine(DB00668)|Fenoterol(DB01288)|Formoterol(DB00983)|Isoproterenol(DB01064)|Labetalol(DB00598)|Levobunolol(DB01210)|Metipranolol(DB01214)|Nadolol(DB01203)|Norepinephrine(DB00368)|Orciprenaline(DB00816)|Oxprenolol(DB01580)|Penbutolol(DB01359)|Pindolol(DB00960)|Pirbuterol(DB01291)|Procaterol(DB01366)|Propranolol(DB00571)|Pseudoephedrine(DB00852)|Ritodrine(DB00867)|Salbutamol(DB01001)|Salmeterol(DB00938)|Terbutaline(DB00871)|Timolol(DB00373)	TTGCCAAGTTCGAGCGTCTGC	0.582		NaN											0	0	0	1	0	24	75				
PDE6A	5145	broad.mit.edu	37	5	149264428	149264428	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr5:149264428G>C	uc003lrg.3	-	15	1961	c.1841C>G	c.(1840-1842)TCC>TGC	p.S614C		NM_000440	NP_000431	P16499	PDE6A_HUMAN	phosphodiesterase 6A	614					cytosolic calcium ion homeostasis|GMP metabolic process|platelet activation|signal transduction|visual perception	cytosol|plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			ovary(1)|pancreas(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			TGGGTTCTGGGATCTGAATGA	0.463		NaN											0	0	0	1	0	16	56				
SLC6A7	6534	broad.mit.edu	37	5	149576666	149576666	+	Silent	SNP	C	C	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr5:149576666C>A	uc003lrr.2	+	4	782	c.411C>A	c.(409-411)ATC>ATA	p.I137I		NM_014228	NP_055043	Q99884	SC6A7_HUMAN	solute carrier family 6, member 7	137	Helical; Name=3; (Potential).					integral to plasma membrane|membrane fraction	neurotransmitter:sodium symporter activity|proline:sodium symporter activity				0		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Proline(DB00172)	ACATGATCATCGCCTACGTGC	0.622		NaN											1	0	1.2644e-06	1	1.30368e-06	22	65				
NDST1	3340	broad.mit.edu	37	5	149932879	149932879	+	Silent	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr5:149932879C>G	uc003lsk.3	+	15	3136	c.2634C>G	c.(2632-2634)CTC>CTG	p.L878L	NDST1_uc011dcj.1_Silent_p.L821L	NM_001543	NP_001534	P52848	NDST1_HUMAN	N-deacetylase/N-sulfotransferase (heparan	878	Heparan sulfate N-sulfotransferase 1.|Lumenal (Potential).				heparan sulfate proteoglycan biosynthetic process|inflammatory response	Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			breast(1)|skin(1)	2		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GAGAGGACCTCCAGAACACCA	0.567		NaN											0	0	0	1	0	66	375				
ANXA6	309	broad.mit.edu	37	5	150512094	150512094	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr5:150512094C>T	uc003ltl.1	-	10	831	c.679G>A	c.(679-681)GAA>AAA	p.E227K	ANXA6_uc011dcp.1_Missense_Mutation_p.E195K|ANXA6_uc003ltm.1_Missense_Mutation_p.E227K|ANXA6_uc003ltn.1_Intron|ANXA6_uc003lto.1_Intron	NM_001155	NP_001146	P08133	ANXA6_HUMAN	annexin VI isoform 1	227	Annexin 3.			IE -> MK (in Ref. 2; AAA35656).		melanosome	calcium ion binding|calcium-dependent phospholipid binding|protein binding				0		Medulloblastoma(196;0.0912)|all_hematologic(541;0.208)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ATGCTGGCTTCAATCGGCTTC	0.542		NaN											0	0	0	1	0	10	26				
LARP1	23367	broad.mit.edu	37	5	154181594	154181594	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr5:154181594C>G	uc003lvp.2	+	11	2173	c.1744C>G	c.(1744-1746)CTG>GTG	p.L582V	LARP1_uc003lvo.2_Missense_Mutation_p.L505V|LARP1_uc010jie.1_Missense_Mutation_p.L377V	NM_033551	NP_291029	Q6PKG0	LARP1_HUMAN	la related protein isoform 2	582							protein binding|RNA binding			ovary(2)|pancreas(1)|skin(1)	4	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			ATTTTCCCACCTGACCTCTCT	0.498		NaN											0	0	0	1	0	16	62				
ATP10B	23120	broad.mit.edu	37	5	159992533	159992533	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr5:159992533C>G	uc003lym.1	-	26	5160	c.4313G>C	c.(4312-4314)AGA>ACA	p.R1438T	ATP10B_uc010jit.1_Missense_Mutation_p.R688T	NM_025153	NP_079429	O94823	AT10B_HUMAN	ATPase, class V, type 10B	1438	Cytoplasmic (Potential).				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			ovary(3)|central_nervous_system(1)|pancreas(1)	5	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AGTCTGTCCTCTTGAGTAGGC	0.537		NaN											0	0	0	1	0	47	116				
SLIT3	6586	broad.mit.edu	37	5	168175380	168175380	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr5:168175380C>G	uc003mab.2	-	20	2617	c.2197G>C	c.(2197-2199)GAG>CAG	p.E733Q	SLIT3_uc010jjg.2_Missense_Mutation_p.E733Q	NM_003062	NP_003053	O75094	SLIT3_HUMAN	slit homolog 3 precursor	733	LRRNT 4.				apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding			ovary(3)|skin(1)	4	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ACCACTGTCTCCATACAGGTG	0.632		NaN											0	0	0	1	0	28	94				
C5orf25	375484	broad.mit.edu	37	5	175772332	175772332	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr5:175772332G>T	uc003mds.3	+	12	2910	c.2503G>T	c.(2503-2505)GAG>TAG	p.E835*	C5orf25_uc003mdt.3_Nonsense_Mutation_p.E420*|C5orf25_uc003mdr.3_RNA|C5orf25_uc003mdv.2_Nonsense_Mutation_p.E296*			Q8NDZ2	CE025_HUMAN	RecName: Full=Uncharacterized protein C5orf25;	835											0	all_cancers(89;0.00381)|Renal(175;0.000269)|Lung NSC(126;0.0122)|all_lung(126;0.0193)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	Kidney(146;0.119)		GATGCTGGGGGAGCCTCTTGT	0.537		NaN											1	0	5.45024e-15	1	5.74907e-15	26	56				
SNCB	6620	broad.mit.edu	37	5	176047844	176047844	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr5:176047844C>T	uc003mep.2	-	7	816	c.373G>A	c.(373-375)GAG>AAG	p.E125K	SNCB_uc003meq.2_Missense_Mutation_p.E125K	NM_001001502	NP_001001502	Q16143	SYUB_HUMAN	beta-synuclein	125							calcium ion binding|phospholipase inhibitor activity			ovary(1)	1	all_cancers(89;0.00222)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.00498)|all_neural(177;0.0212)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TGATATTCCTCCTGCATCACC	0.622		NaN											0	0	0	1	0	14	54				
MGAT1	4245	broad.mit.edu	37	5	180219580	180219580	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr5:180219580G>A	uc003mmg.3	-	2	887	c.392C>T	c.(391-393)TCG>TTG	p.S131L	MGAT1_uc010jlf.2_Missense_Mutation_p.S131L|MGAT1_uc010jlg.2_Missense_Mutation_p.S131L|MGAT1_uc003mmh.3_Missense_Mutation_p.S131L|MGAT1_uc010jlh.2_Missense_Mutation_p.S131L|MGAT1_uc003mmi.3_Missense_Mutation_p.S131L	NM_002406	NP_002397	P26572	MGAT1_HUMAN	mannosyl (alpha-1,3-)-glycoprotein	131	Lumenal (Potential).				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity|metal ion binding			ovary(1)	1	all_cancers(89;1.11e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.0027)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00356)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GAGCTCAGCCGAGGGCCGATA	0.672		NaN											0	0	0	1	0	19	65				
IRF4	3662	broad.mit.edu	37	6	397158	397158	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr6:397158C>T	uc003msz.3	+	5	656	c.543C>T	c.(541-543)TAC>TAT	p.Y181Y	IRF4_uc010jne.1_Silent_p.Y181Y|IRF4_uc003mta.3_RNA|IRF4_uc003mtb.3_Silent_p.Y180Y|IRF4_uc003mtc.1_Silent_p.Y11Y	NM_002460	NP_002451	Q15306	IRF4_HUMAN	interferon regulatory factor 4	181					interferon-gamma-mediated signaling pathway|positive regulation of interleukin-10 biosynthetic process|positive regulation of interleukin-13 biosynthetic process|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of transcription, DNA-dependent|regulation of T-helper cell differentiation|T cell activation|type I interferon-mediated signaling pathway	cytoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			ovary(1)	1		Breast(5;0.0155)|all_lung(73;0.0691)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.03)|BRCA - Breast invasive adenocarcinoma(62;0.0702)		GGAGGGACTACGTCCCGGATC	0.572		NaN	T	IGH@	MM 								0	0	0	1	0	42	179				
RPP40	10799	broad.mit.edu	37	6	5002362	5002362	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr6:5002362C>T	uc003mwl.2	-	2	276	c.241G>A	c.(241-243)GAA>AAA	p.E81K	uc003mwn.1_5'Flank|RPP40_uc003mwm.2_Missense_Mutation_p.E81K	NM_006638	NP_006629	O75818	RPP40_HUMAN	ribonuclease P 40kDa subunit	81					tRNA processing	nucleolar ribonuclease P complex	protein binding|ribonuclease P activity				0	Ovarian(93;0.11)	all_hematologic(90;0.0895)				CTGATGAATTCAGGTGTAATT	0.403		NaN											0	0	0	1	0	21	103				
F13A1	2162	broad.mit.edu	37	6	6152170	6152170	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr6:6152170G>A	uc003mwv.2	-	14	2044	c.1921C>T	c.(1921-1923)CAG>TAG	p.Q641*	F13A1_uc011dib.1_Nonsense_Mutation_p.Q578*	NM_000129	NP_000120	P00488	F13A_HUMAN	coagulation factor XIII A1 subunit precursor	641					peptide cross-linking|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			ovary(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|pancreas(1)|skin(1)	6	Ovarian(93;0.0816)	all_hematologic(90;0.152)			L-Glutamine(DB00130)	CCAACTACCTGAGTGCCACGG	0.438		NaN											0	0	0	1	0	22	23				
SSR1	6745	broad.mit.edu	37	6	7303849	7303849	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr6:7303849C>T	uc003mxf.3	-	3	402	c.214G>A	c.(214-216)GAT>AAT	p.D72N	SSR1_uc003mxg.3_Missense_Mutation_p.D72N|SSR1_uc010jny.2_Missense_Mutation_p.D72N	NM_003144	NP_003135	P43307	SSRA_HUMAN	signal sequence receptor, alpha precursor	72	Lumenal (Potential).				cotranslational protein targeting to membrane|positive regulation of cell proliferation	endoplasmic reticulum membrane|integral to membrane	signal sequence binding				0	Ovarian(93;0.0398)					CCAGACACATCTTCTTCCTCT	0.294		NaN											0	0	0	1	0	55	57				
MUTED	63915	broad.mit.edu	37	6	8041426	8041426	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr6:8041426G>A	uc003mxy.2	-	3	309	c.271C>T	c.(271-273)CTT>TTT	p.L91F	TXNDC5_uc003mxw.2_Silent_p.L7L|MUTED_uc010joc.2_Missense_Mutation_p.L27F|MUTED_uc010job.2_RNA	NM_201280	NP_958437	Q8TDH9	MUTED_HUMAN	muted	91						BLOC-1 complex	protein binding				0	Ovarian(93;0.0398)					CATTTGGGAAGAGTATGTTCA	0.368		NaN											0	0	0	1	0	28	77				
GCM2	9247	broad.mit.edu	37	6	10874680	10874680	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr6:10874680G>A	uc003mzn.3	-	5	1141	c.1069C>T	c.(1069-1071)CGC>TGC	p.R357C	SYCP2L_uc011dim.1_Intron	NM_004752	NP_004743	O75603	GCM2_HUMAN	glial cells missing homolog 2	357					cellular calcium ion homeostasis|cellular phosphate ion homeostasis|parathyroid gland development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|sequence-specific DNA binding			ovary(2)|central_nervous_system(1)	3	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)				TAATAAGGGCGAGTGGCCATG	0.532		NaN											0	0	0	1	0	89	78				
HIVEP1	3096	broad.mit.edu	37	6	12124515	12124515	+	Nonsense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr6:12124515C>G	uc003nac.2	+	4	4666	c.4487C>G	c.(4486-4488)TCA>TGA	p.S1496*	HIVEP1_uc011diq.1_RNA	NM_002114	NP_002105	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer	1496					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)				GCAGAAACATCAAACTCCAGC	0.448		NaN											0	0	0	1	0	21	71				
KIF13A	63971	broad.mit.edu	37	6	17781078	17781078	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr6:17781078G>A	uc003ncg.3	-	31	3834	c.3729C>T	c.(3727-3729)GTC>GTT	p.V1243V	KIF13A_uc003ncf.2_Silent_p.V1230V|KIF13A_uc003nch.3_Silent_p.V1243V|KIF13A_uc003nci.3_Silent_p.V1230V|KIF13A_uc003nce.1_5'Flank	NM_022113	NP_071396	Q9H1H9	KI13A_HUMAN	kinesin family member 13A isoform a	1243					cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule	centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane	ATP binding|microtubule motor activity|protein binding			large_intestine(2)|ovary(2)	4	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			TCTGTGGTGTGACCCTATTCA	0.448		NaN											0	0	0	1	0	18	54				
DEK	7913	broad.mit.edu	37	6	18249902	18249902	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr6:18249902C>G	uc003ncr.1	-	7	935	c.742G>C	c.(742-744)GAT>CAT	p.D248H	DEK_uc011djf.1_Missense_Mutation_p.D214H|DEK_uc011djg.1_RNA	NM_003472	NP_003463	P35659	DEK_HUMAN	DEK oncogene isoform 1	248	Asp/Glu-rich (acidic).				chromatin modification|regulation of transcription from RNA polymerase II promoter|signal transduction|transcription from RNA polymerase II promoter|viral genome replication	nucleus	DNA binding|histone binding			kidney(1)	1	Ovarian(93;0.00769)|Breast(50;0.0495)	all_hematologic(90;0.053)	OV - Ovarian serous cystadenocarcinoma(7;0.00291)|all cancers(50;0.031)|Epithelial(50;0.0332)			CTTTCTTTATCTTCATCATCT	0.333		NaN	T	NUP214	AML								0	0	0	1	0	7	23				
CDKAL1	54901	broad.mit.edu	37	6	21201376	21201376	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr6:21201376G>C	uc003ndc.1	+	15	1593	c.1419G>C	c.(1417-1419)AAG>AAC	p.K473N	CDKAL1_uc003ndd.1_Missense_Mutation_p.K473N|CDKAL1_uc003nde.1_Missense_Mutation_p.K382N|CDKAL1_uc003ndf.1_Intron|CDKAL1_uc003ndg.2_RNA	NM_017774	NP_060244	Q5VV42	CDKAL_HUMAN	CDK5 regulatory subunit associated protein	473	TRAM.				RNA modification	integral to membrane	4 iron, 4 sulfur cluster binding|metal ion binding|transferase activity			ovary(2)	2	all_epithelial(95;0.0708)|Breast(50;0.131)|Ovarian(93;0.227)		OV - Ovarian serous cystadenocarcinoma(7;0.0241)|all cancers(50;0.123)|Epithelial(50;0.248)			TCATGGGGAAGATGGTTGAAG	0.363		NaN											0	0	0	1	0	31	109				
DCDC2	51473	broad.mit.edu	37	6	24175047	24175047	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr6:24175047G>A	uc003ndx.2	-	10	1644	c.1342C>T	c.(1342-1344)CAA>TAA	p.Q448*	DCDC2_uc003ndy.2_Nonsense_Mutation_p.Q448*|DCDC2_uc003ndw.2_Nonsense_Mutation_p.Q199*	NM_016356	NP_057440	Q9UHG0	DCDC2_HUMAN	doublecortin domain containing 2	448					cellular defense response|intracellular signal transduction|neuron migration					ovary(1)	1		Ovarian(999;0.101)				GGTGGTCTTTGAGGGTCTACA	0.353		NaN											0	0	0	1	0	12	72				
HIST1H3B	8358	broad.mit.edu	37	6	26031895	26031895	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr6:26031895G>C	uc003nfs.1	-	1	394	c.394C>G	c.(394-396)CGC>GGC	p.R132G		NM_003537	NP_003528	P68431	H31_HUMAN	histone cluster 1, H3b	132					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding			ovary(2)	2						CTTTCTCCGCGAATGCGGCGA	0.478		NaN											0	0	0	1	0	32	57				
HIST1H3C	8352	broad.mit.edu	37	6	26045914	26045914	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr6:26045914G>A	uc003nfv.2	+	1	276	c.276G>A	c.(274-276)GCG>GCA	p.A92A	HIST1H2BB_uc003nfu.2_5'Flank	NM_003531	NP_003522	P68431	H31_HUMAN	histone cluster 1, H3c	92					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding			ovary(1)	1						CGGTGATGGCGCTGCAGGAGG	0.582		NaN											0	0	0	1	0	22	80				
HIST1H2AE	3012	broad.mit.edu	37	6	26217568	26217568	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr6:26217568G>C	uc003nha.1	+	1	421	c.366G>C	c.(364-366)GAG>GAC	p.E122D	HIST1H2BG_uc003ngz.2_5'Flank	NM_021052	NP_066390	P04908	H2A1B_HUMAN	histone cluster 1, H2ae	122					nucleosome assembly	nucleosome|nucleus	DNA binding			ovary(1)|skin(1)	2		all_hematologic(11;0.196)				AGAAGACGGAGAGCCACCATA	0.542		NaN											0	0	0	1	0	19	59				
HIST1H4H	8365	broad.mit.edu	37	6	26285723	26285723	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr6:26285723G>C	uc003nhm.2	-	1	5	c.5C>G	c.(4-6)TCT>TGT	p.S2C	HIST1H4H_uc003nhl.1_RNA	NM_003543	NP_003534	P62805	H4_HUMAN	histone cluster 1, H4h	2					CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding	p.S2C(1)		ovary(2)	2						ACCACGGCCAGACATGACTAA	0.473		NaN								HNSCC(76;0.23)			0	0	0	1	0	17	71				
BTN2A1	11120	broad.mit.edu	37	6	26465586	26465586	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr6:26465586G>A	uc003nib.1	+	5	1098	c.886G>A	c.(886-888)GAA>AAA	p.E296K	BTN2A1_uc003nic.1_Missense_Mutation_p.E296K|BTN2A1_uc003nid.1_Missense_Mutation_p.E144K|BTN2A1_uc011dko.1_Missense_Mutation_p.E235K|BTN2A1_uc010jqk.1_Missense_Mutation_p.E56K	NM_007049	NP_008980	Q7KYR7	BT2A1_HUMAN	butyrophilin, subfamily 2, member A1 isoform 1	296	Cytoplasmic (Potential).				lipid metabolic process	integral to plasma membrane				ovary(1)|skin(1)	2						TGCTCTAAAGGAACTGGAGAA	0.299		NaN											0	0	0	1	0	58	69				
ZNF184	7738	broad.mit.edu	37	6	27420524	27420524	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr6:27420524G>C	uc003njj.2	-	5	1625	c.814C>G	c.(814-816)CAT>GAT	p.H272D	ZNF184_uc010jqv.2_Missense_Mutation_p.H272D|ZNF184_uc003nji.2_Missense_Mutation_p.H272D	NM_007149	NP_009080	Q99676	ZN184_HUMAN	zinc finger protein 184	272	C2H2-type 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						TCTCCAGTATGAATTCTTTGA	0.378		NaN											0	0	0	1	0	17	85				
HIST1H4L	8368	broad.mit.edu	37	6	27840978	27840978	+	Nonstop_Mutation	SNP	C	C	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr6:27840978C>A	uc003njz.2	-	1	312	c.311G>T	c.(310-312)TGA>TTA	p.*104L	HIST1H3I_uc003njy.2_5'Flank	NM_003546	NP_003537	P62805	H4_HUMAN	histone cluster 1, H4l	104					CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding			ovary(1)|breast(1)	2						GTAAAACACTCAGCCGCCAAA	0.512		NaN											1	0	2.17888e-05	1	2.22085e-05	9	57				
C6orf136	221545	broad.mit.edu	37	6	30619214	30619214	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr6:30619214C>T	uc003nqw.3	+	4	928	c.735C>T	c.(733-735)TTC>TTT	p.F245F	C6orf136_uc003nqx.3_Silent_p.F426F|C6orf136_uc011dmn.1_Silent_p.F111F	NM_001109938	NP_001103408	Q5SQH8	CF136_HUMAN	hypothetical protein LOC221545 isoform 1	245											0						TTTTGCGGTTCTACAAGCGTG	0.448		NaN											0	0	0	1	0	103	366				
TNF	7124	broad.mit.edu	37	6	31544355	31544355	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr6:31544355C>T	uc003nui.2	+	2	400	c.231C>T	c.(229-231)GTC>GTT	p.V77V	TNF_uc003nuj.2_5'UTR	NM_000594	NP_000585	P01375	TNFA_HUMAN	tumor necrosis factor alpha	77	Extracellular (Potential).	Cleavage; by ADAM17.			activation of caspase activity|activation of MAPK activity|activation of MAPKKK activity|anti-apoptosis|cellular response to nicotine|chronic inflammatory response to antigenic stimulus|embryonic digestive tract development|induction of apoptosis via death domain receptors|induction of necroptosis by extracellular signals|leukocyte tethering or rolling|necrotic cell death|negative regulation of branching involved in lung morphogenesis|negative regulation of cytokine secretion involved in immune response|negative regulation of fat cell differentiation|negative regulation of interleukin-6 production|negative regulation of lipid catabolic process|negative regulation of lipid storage|negative regulation of viral genome replication|positive regulation of calcidiol 1-monooxygenase activity|positive regulation of chemokine biosynthetic process|positive regulation of chemokine production|positive regulation of cytokine secretion|positive regulation of ERK1 and ERK2 cascade|positive regulation of fever generation|positive regulation of heterotypic cell-cell adhesion|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of membrane protein ectodomain proteolysis|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of NFAT protein import into nucleus|positive regulation of nitric oxide biosynthetic process|positive regulation of osteoclast differentiation|positive regulation of peptidyl-serine phosphorylation|positive regulation of podosome assembly|positive regulation of protein complex disassembly|positive regulation of smooth muscle cell proliferation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of vitamin D biosynthetic process|protein import into nucleus, translocation|receptor biosynthetic process|regulation of insulin secretion|response to glucocorticoid stimulus|response to salt stress|response to virus|sequestering of triglyceride|transformed cell apoptosis|tumor necrosis factor-mediated signaling pathway	external side of plasma membrane|extracellular space|integral to plasma membrane|membrane raft|phagocytic cup|recycling endosome	cytokine activity|identical protein binding|protease binding|transcription regulatory region DNA binding|tumor necrosis factor receptor binding			ovary(1)|pancreas(1)|skin(1)	3		Ovarian(999;0.00556)			Adalimumab(DB00051)|Adenosine(DB00640)|Amrinone(DB01427)|Atorvastatin(DB01076)|Chloroquine(DB00608)|Clenbuterol(DB01407)|Etanercept(DB00005)|Glucosamine(DB01296)|Infliximab(DB00065)|Naltrexone(DB00704)|Pranlukast(DB01411)|Procaterol(DB01366)|Saquinavir(DB01232)|Simvastatin(DB00641)|Thalidomide(DB01041)	CCCAGGCAGTCAGTAAGTGTC	0.502		NaN							Naso-/Oropharyngeal/Laryngeal_Cancer_Familial_Clustering_of				0	0	0	1	0	38	112				
TNXB	7148	broad.mit.edu	37	6	32010104	32010104	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr6:32010104G>A	uc003nzl.2	-	41	12442	c.12240C>T	c.(12238-12240)TTC>TTT	p.F4080F	TNXB_uc003nzg.1_Silent_p.F511F|TNXB_uc003nzh.1_Silent_p.F549F	NM_019105	NP_061978	P22105	TENX_HUMAN	tenascin XB isoform 1 precursor	4127	Fibrinogen C-terminal.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding				0						AGTCCCTCCAGAAGTCTGTCT	0.612		NaN											0	0	0	1	0	9	45				
TNXB	7148	broad.mit.edu	37	6	32021477	32021477	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr6:32021477C>T	uc003nzl.2	-	25	8675	c.8473G>A	c.(8473-8475)GAA>AAA	p.E2825K		NM_019105	NP_061978	P22105	TENX_HUMAN	tenascin XB isoform 1 precursor	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding				0						GTCTCTGCTTCATCCTCTGGA	0.587		NaN											0	0	0	1	0	16	62				
NOTCH4	4855	broad.mit.edu	37	6	32170230	32170230	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr6:32170230C>T	uc003obb.2	-	21	3517	c.3378G>A	c.(3376-3378)CTG>CTA	p.L1126L	NOTCH4_uc003oba.2_5'UTR|NOTCH4_uc011dpu.1_Intron|NOTCH4_uc011dpv.1_Intron	NM_004557	NP_004548	Q99466	NOTC4_HUMAN	notch4 preproprotein	1126	EGF-like 28.|Extracellular (Potential).				cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity			lung(8)|ovary(5)|breast(4)|central_nervous_system(3)|upper_aerodigestive_tract(1)|skin(1)	22						CTGGTGGGGTCAGGCAGTCAG	0.642		NaN											0	0	0	1	0	5	32				
HLA-DQA2	3118	broad.mit.edu	37	6	32713004	32713004	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr6:32713004G>A	uc003obx.2	+	2	209	c.151G>A	c.(151-153)GAA>AAA	p.E51K		NM_020056	NP_064440	P01906	DQA2_HUMAN	major histocompatibility complex, class II, DQ	51	Extracellular (Potential).|Alpha-1.				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endoplasmic reticulum membrane|endosome membrane|Golgi apparatus|integral to plasma membrane|lysosomal membrane|MHC class II protein complex	MHC class II receptor activity				0					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	GTACACCCATGAATTTGATGG	0.502		NaN											0	0	0	1	0	46	143				
COL11A2	1302	broad.mit.edu	37	6	33135226	33135226	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr6:33135226G>A	uc003ocx.1	-	56	4327	c.4099C>T	c.(4099-4101)CTG>TTG	p.L1367L	COL11A2_uc010jul.1_Intron|COL11A2_uc003ocy.1_Silent_p.L1281L|COL11A2_uc003ocz.1_Silent_p.L1260L	NM_080680	NP_542411	P13942	COBA2_HUMAN	collagen, type XI, alpha 2 isoform 1	1367	Triple-helical region.				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging			ovary(3)|skin(2)	5						AGCCCCCTCAGACCATCAGGG	0.662		NaN											0	0	0	1	0	20	53				
COL11A2	1302	broad.mit.edu	37	6	33154506	33154506	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr6:33154506C>T	uc003ocx.1	-	5	924	c.696G>A	c.(694-696)CAG>CAA	p.Q232Q	COL11A2_uc003ocy.1_Silent_p.Q232Q|COL11A2_uc003ocz.1_Silent_p.Q232Q|COL11A2_uc003oda.2_Silent_p.Q232Q	NM_080680	NP_542411	P13942	COBA2_HUMAN	collagen, type XI, alpha 2 isoform 1	232	Nonhelical region.				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging			ovary(3)|skin(2)	5						GTCTTTCCCTCTGGCCCCCCT	0.562		NaN											0	0	0	1	0	36	122				
RXRB	6257	broad.mit.edu	37	6	33165597	33165597	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr6:33165597C>T	uc003odb.2	-	4	941	c.762G>A	c.(760-762)CGG>CGA	p.R254R	RXRB_uc003odc.2_Silent_p.R254R|RXRB_uc003odd.2_Silent_p.R158R|RXRB_uc011dqr.1_Silent_p.R64R|RXRB_uc011dqs.1_Silent_p.R137R|RXRB_uc003ode.1_Silent_p.R118R|RXRB_uc011dqt.1_Silent_p.R254R|RXRB_uc011dqu.1_Silent_p.R158R	NM_021976	NP_068811	P28702	RXRB_HUMAN	retinoid X receptor, beta	254	NR C4-type.|Nuclear receptor.				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	ligand-regulated transcription factor activity|retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			ovary(3)	3					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Bexarotene(DB00307)|Etretinate(DB00926)|Tazarotene(DB00799)|Tretinoin(DB00755)	GACAGCGGTTCCGCTGGCGCT	0.582		NaN											0	0	0	1	0	9	48				
HSD17B8	7923	broad.mit.edu	37	6	33173242	33173242	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr6:33173242C>G	uc003odi.1	+	4	433	c.406C>G	c.(406-408)CAG>GAG	p.Q136E	uc003odj.1_5'Flank|MIR219-1_hsa-mir-219-1|MI0000296_5'Flank	NM_014234	NP_055049	Q92506	DHB8_HUMAN	estradiol 17 beta-dehydrogenase 8	136					estrogen biosynthetic process|fatty acid biosynthetic process	mitochondrial matrix	3-hydroxyacyl-CoA dehydrogenase activity|estradiol 17-beta-dehydrogenase activity|protein binding|testosterone 17-beta-dehydrogenase (NAD+) activity			breast(1)|central_nervous_system(1)	2					NADH(DB00157)	CCTAGTCACTCAGGCTGCAGC	0.572		NaN											0	0	0	1	0	29	104				
KIF6	221458	broad.mit.edu	37	6	39513460	39513460	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr6:39513460C>G	uc003oot.2	-	11	1281	c.1186G>C	c.(1186-1188)GAA>CAA	p.E396Q	KIF6_uc010jxa.1_Missense_Mutation_p.E187Q|KIF6_uc011dua.1_Missense_Mutation_p.E396Q|KIF6_uc010jxb.1_Missense_Mutation_p.E396Q	NM_145027	NP_659464	Q6ZMV9	KIF6_HUMAN	kinesin family member 6	396					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding			breast(2)|central_nervous_system(1)	3						ATTAGTTTTTCCAGCCTAAAA	0.338		NaN											0	0	0	1	0	14	41				
PGC	5225	broad.mit.edu	37	6	41707611	41707611	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr6:41707611G>C	uc003ora.1	-	7	890	c.841C>G	c.(841-843)CTG>GTG	p.L281V		NM_002630	NP_002621	P20142	PEPC_HUMAN	progastricsin (pepsinogen C) precursor	281					digestion|proteolysis	extracellular space	aspartic-type endopeptidase activity				0	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;0.000132)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00507)			ACAGTGAGCAGAGAGGTGCCT	0.612		NaN											0	0	0	1	0	35	87				
PEX6	5190	broad.mit.edu	37	6	42936706	42936706	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr6:42936706C>T	uc003otf.2	-	6	1478	c.1385G>A	c.(1384-1386)GGA>GAA	p.G462E	PEX6_uc010jya.2_RNA	NM_000287	NP_000278	Q13608	PEX6_HUMAN	peroxisomal biogenesis factor 6	462					protein import into peroxisome matrix, translocation|protein stabilization	cytosol|peroxisomal membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding			ovary(1)	1			all cancers(41;0.00235)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0562)			ACTGCTAGTTCCTGTCAGCAG	0.537		NaN											0	0	0	1	0	23	73				
C6orf153	88745	broad.mit.edu	37	6	42995194	42995194	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr6:42995194C>T	uc003otp.1	+	6	630	c.622C>T	c.(622-624)CGG>TGG	p.R208W		NM_033112	NP_149103	Q96EU6	RRP36_HUMAN	hypothetical protein LOC88745	208					ribosomal small subunit biogenesis|rRNA processing	nucleolus					0			Colorectal(64;0.00237)|all cancers(41;0.0034)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0539)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			GCAGGGCCATCGGCCATACTT	0.572		NaN											0	0	0	1	0	29	76				
ABCC10	89845	broad.mit.edu	37	6	43415550	43415550	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr6:43415550C>T	uc003ouy.1	+	18	4049	c.3834C>T	c.(3832-3834)ATC>ATT	p.I1278I	ABCC10_uc003ouz.1_Silent_p.I1250I|ABCC10_uc010jyo.1_Silent_p.I384I	NM_033450	NP_258261	Q5T3U5	MRP7_HUMAN	ATP-binding cassette, sub-family C, member 10	1278	ABC transporter 2.					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			ovary(6)|central_nervous_system(1)	7	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			AGTTGGGCATCGTGGGCCGCA	0.642		NaN											0	0	0	1	0	70	211				
XPO5	57510	broad.mit.edu	37	6	43495465	43495465	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr6:43495465C>T	uc003ovp.2	-	26	3038	c.2827G>A	c.(2827-2829)GAA>AAA	p.E943K	POLR1C_uc003ovo.1_Intron	NM_020750	NP_065801	Q9HAV4	XPO5_HUMAN	exportin 5	943					gene silencing by RNA	cytosol|nucleoplasm	protein binding|tRNA binding			skin(2)|breast(1)|kidney(1)	4	all_cancers(18;2.08e-05)|Lung NSC(15;0.000907)|all_lung(25;0.00243)		all cancers(41;0.000321)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0524)			GCCTCATCTTCTCCACTGCAG	0.498		NaN											0	0	0	1	0	18	50				
POLH	5429	broad.mit.edu	37	6	43578408	43578408	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr6:43578408G>T	uc003ovq.3	+	10	1496	c.1192G>T	c.(1192-1194)GAT>TAT	p.D398Y	POLH_uc010jyu.2_Missense_Mutation_p.D274Y|POLH_uc011dvl.1_RNA|POLH_uc003ovr.3_Missense_Mutation_p.D299Y	NM_006502	NP_006493	Q9Y253	POLH_HUMAN	DNA-directed DNA polymerase eta	398					DNA replication|DNA synthesis involved in DNA repair|regulation of DNA repair|response to UV-C	cytoplasm|nucleoplasm	damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding			breast(2)	2	all_cancers(18;1.89e-05)|Lung NSC(15;0.00161)|all_lung(25;0.004)		all cancers(41;0.000753)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0826)|OV - Ovarian serous cystadenocarcinoma(102;0.167)			GATGAGCCATGATGCATTTAC	0.468		NaN						DNA_polymerases_(catalytic_subunits)	Xeroderma_Pigmentosum				1	0	2.4624e-09	1	2.56544e-09	19	44				
GTPBP2	54676	broad.mit.edu	37	6	43591732	43591732	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr6:43591732G>T	uc003ovs.2	-	8	1211	c.1174C>A	c.(1174-1176)CTG>ATG	p.L392M	GTPBP2_uc010jyv.2_Missense_Mutation_p.L304M|GTPBP2_uc003ovt.1_Missense_Mutation_p.L392M	NM_019096	NP_061969	Q9BX10	GTPB2_HUMAN	GTP binding protein 2	392							GTP binding|GTPase activity			liver(1)|skin(1)	2	all_cancers(18;9.36e-06)|Lung NSC(15;0.00161)|all_lung(25;0.004)		all cancers(41;0.000501)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0826)|OV - Ovarian serous cystadenocarcinoma(102;0.167)			AGTGGCGGCAGAATATTCAGA	0.512		NaN											1	0	2.61193e-14	1	2.75343e-14	31	86				
TMEM63B	55362	broad.mit.edu	37	6	44104156	44104156	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr6:44104156G>C	uc003owr.2	+	5	413	c.349G>C	c.(349-351)GAC>CAC	p.D117H	TMEM63B_uc003owq.1_Missense_Mutation_p.D117H|TMEM63B_uc010jyy.1_Missense_Mutation_p.D20H|TMEM63B_uc003ows.2_Missense_Mutation_p.D20H	NM_018426	NP_060896	Q5T3F8	TM63B_HUMAN	transmembrane protein 63B	117						integral to membrane	nucleotide binding|protein binding			pancreas(2)|central_nervous_system(1)	3	all_cancers(18;1.66e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00309)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0215)			CAGCTCCGTTGACTTTGACCA	0.577		NaN											0	0	0	1	0	18	54				
TMEM63B	55362	broad.mit.edu	37	6	44107235	44107235	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr6:44107235G>A	uc003owr.2	+	7	503	c.439G>A	c.(439-441)GAT>AAT	p.D147N	TMEM63B_uc003owq.1_Missense_Mutation_p.D147N|TMEM63B_uc010jyy.1_Missense_Mutation_p.D50N|TMEM63B_uc003ows.2_Missense_Mutation_p.D50N|TMEM63B_uc010jyz.2_5'Flank	NM_018426	NP_060896	Q5T3F8	TM63B_HUMAN	transmembrane protein 63B	147						integral to membrane	nucleotide binding|protein binding			pancreas(2)|central_nervous_system(1)	3	all_cancers(18;1.66e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00309)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0215)			ATGTGGGGGCGATGCCGTGCA	0.582		NaN											0	0	0	1	0	21	73				
TNFRSF21	27242	broad.mit.edu	37	6	47254118	47254118	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr6:47254118C>G	uc003oyv.2	-	2	743	c.310G>C	c.(310-312)GAG>CAG	p.E104Q		NM_014452	NP_055267	O75509	TNR21_HUMAN	tumor necrosis factor receptor superfamily,	104	TNFR-Cys 2.|Extracellular (Potential).				cellular lipid metabolic process	cytoplasm|integral to membrane	protein binding|receptor activity				0			Lung(136;0.189)			TGGCATTTCTCTATGCCATTC	0.522		NaN											0	0	0	1	0	46	124				
HMGCLL1	54511	broad.mit.edu	37	6	55406893	55406893	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr6:55406893C>G	uc003pcn.2	-	3	403	c.244G>C	c.(244-246)GAA>CAA	p.E82Q	HMGCLL1_uc003pco.2_Missense_Mutation_p.E52Q|HMGCLL1_uc010jzx.2_5'UTR|HMGCLL1_uc011dxc.1_Missense_Mutation_p.E52Q|HMGCLL1_uc011dxd.1_Missense_Mutation_p.E52Q|HMGCLL1_uc011dxe.1_Missense_Mutation_p.E52Q|HMGCLL1_uc003pcp.2_Missense_Mutation_p.E52Q	NM_019036	NP_061909	Q8TB92	HMGC2_HUMAN	3-hydroxymethyl-3-methylglutaryl-Coenzyme A	82							hydroxymethylglutaryl-CoA lyase activity|metal ion binding			skin(2)|ovary(1)|pancreas(1)	4	Lung NSC(77;0.0875)		LUSC - Lung squamous cell carcinoma(124;0.23)			GGCCCAACTTCTACTATTTTA	0.318		NaN											0	0	0	1	0	4	25				
DST	667	broad.mit.edu	37	6	56507261	56507261	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr6:56507261C>T	uc003pdf.2	-	15	1748	c.1720G>A	c.(1720-1722)GAC>AAC	p.D574N	DST_uc003pcz.3_Missense_Mutation_p.D396N|DST_uc011dxj.1_Missense_Mutation_p.D425N|DST_uc011dxk.1_Missense_Mutation_p.D436N|DST_uc011dxl.1_Missense_Mutation_p.D425N|DST_uc003pcy.3_Missense_Mutation_p.D70N|DST_uc003pdb.2_Missense_Mutation_p.D70N|DST_uc003pdc.3_Missense_Mutation_p.D70N|DST_uc003pdd.3_Missense_Mutation_p.D70N|DST_uc003pde.2_Missense_Mutation_p.D512N	NM_001144769	NP_001138241	Q03001	DYST_HUMAN	dystonin isoform 2	396					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			ovary(7)|central_nervous_system(6)|upper_aerodigestive_tract(1)	14	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			ATGACACTGTCCCTCTGAACT	0.403		NaN											0	0	0	1	0	11	58				
PHF3	23469	broad.mit.edu	37	6	64389966	64389966	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr6:64389966G>A	uc003pep.1	+	2	336	c.310G>A	c.(310-312)GAA>AAA	p.E104K	PHF3_uc010kaf.1_Missense_Mutation_p.E104K|PHF3_uc003pem.2_Missense_Mutation_p.E57K|PHF3_uc010kag.1_Missense_Mutation_p.E16K|PHF3_uc010kah.1_Intron|PHF3_uc003pen.2_Missense_Mutation_p.E16K|PHF3_uc011dxs.1_5'UTR|PHF3_uc003peo.2_Missense_Mutation_p.E104K	NM_015153	NP_055968	Q92576	PHF3_HUMAN	PHD finger protein 3	104					multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding			ovary(3)|lung(1)|skin(1)	5	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			TACCATTGATGAAGAAGAACT	0.333		NaN											0	0	0	1	0	15	74				
PHF3	23469	broad.mit.edu	37	6	64389977	64389977	+	Silent	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr6:64389977G>C	uc003pep.1	+	2	347	c.321G>C	c.(319-321)CTG>CTC	p.L107L	PHF3_uc010kaf.1_Silent_p.L107L|PHF3_uc003pem.2_Silent_p.L60L|PHF3_uc010kag.1_Silent_p.L19L|PHF3_uc010kah.1_Intron|PHF3_uc003pen.2_Silent_p.L19L|PHF3_uc011dxs.1_5'UTR|PHF3_uc003peo.2_Silent_p.L107L	NM_015153	NP_055968	Q92576	PHF3_HUMAN	PHD finger protein 3	107					multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding			ovary(3)|lung(1)|skin(1)	5	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			AAGAAGAACTGATTTTACCTA	0.353		NaN											0	0	0	1	0	16	77				
BAI3	577	broad.mit.edu	37	6	69653779	69653779	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr6:69653779G>C	uc003pev.3	+	6	1536	c.1088G>C	c.(1087-1089)CGA>CCA	p.R363P	BAI3_uc010kak.2_Missense_Mutation_p.R363P	NM_001704	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	363	Extracellular (Potential).|TSP type-1 2.				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			lung(27)|ovary(8)|skin(6)|pancreas(4)|central_nervous_system(3)|urinary_tract(1)|breast(1)	50		all_lung(197;0.212)				ACATGTGGTCGAGGCCAAAGA	0.438		NaN											0	0	0	1	0	22	68				
LMBRD1	55788	broad.mit.edu	37	6	70411792	70411792	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr6:70411792G>A	uc003pfa.2	-	10	1084	c.969C>T	c.(967-969)CTC>CTT	p.L323L	LMBRD1_uc003pey.2_Silent_p.L119L|LMBRD1_uc003pez.2_Silent_p.L250L|LMBRD1_uc010kal.2_Silent_p.L250L|LMBRD1_uc003pfb.2_RNA	NM_018368	NP_060838	Q9NUN5	LMBD1_HUMAN	liver regeneration p-53 related protein	323	Helical; Name=6; (Potential).				interspecies interaction between organisms|transport	integral to membrane|lysosomal membrane	cobalamin binding			ovary(1)	1						TTGACAAGAAGAGAGAAATTA	0.289		NaN											0	0	0	1	0	9	26				
COL19A1	1310	broad.mit.edu	37	6	70639408	70639408	+	Missense_Mutation	SNP	G	G	C	rs151153446	byFrequency	TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr6:70639408G>C	uc003pfc.1	+	6	599	c.482G>C	c.(481-483)CGA>CCA	p.R161P	COL19A1_uc010kam.1_Missense_Mutation_p.R57P	NM_001858	NP_001849	Q14993	COJA1_HUMAN	alpha 1 type XIX collagen precursor	161	TSP N-terminal.				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging			ovary(2)|breast(2)	4						TTTAGAAATCGAGAACTCCGT	0.378		NaN											0	0	0	1	0	19	65				
RIMS1	22999	broad.mit.edu	37	6	72957812	72957812	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr6:72957812C>T	uc003pga.2	+	12	2300	c.2223C>T	c.(2221-2223)GTC>GTT	p.V741V	RIMS1_uc011dyb.1_Silent_p.V367V|RIMS1_uc003pgc.2_Silent_p.V367V|RIMS1_uc010kaq.2_Silent_p.V215V|RIMS1_uc011dyc.1_Silent_p.V215V|RIMS1_uc010kar.2_Silent_p.V134V|RIMS1_uc011dyd.1_Silent_p.V200V|RIMS1_uc003pgf.2_5'Flank|RIMS1_uc003pgg.2_5'Flank|RIMS1_uc003pgi.2_5'Flank|RIMS1_uc003pgh.2_5'Flank|RIMS1_uc003pgd.2_5'Flank|RIMS1_uc003pge.2_5'Flank|RIMS1_uc003pgb.3_Silent_p.V367V|RIMS1_uc010kas.1_Silent_p.V200V	NM_014989	NP_055804	Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	741					calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			ovary(7)|pancreas(2)|breast(1)	10		all_epithelial(107;0.179)|all_hematologic(105;0.212)				CCCCACAAGTCTTACCAGGGC	0.398		NaN											0	0	0	1	0	13	43				
SLC17A5	26503	broad.mit.edu	37	6	74363522	74363522	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr6:74363522C>T	uc003phn.3	-	1	216	c.88G>A	c.(88-90)GAA>AAA	p.E30K	SLC17A5_uc010kay.2_RNA|SLC17A5_uc011dyo.1_5'UTR	NM_012434	NP_036566	Q9NRA2	S17A5_HUMAN	sialin	30					anion transport	integral to plasma membrane|lysosomal membrane|membrane fraction	sialic acid:hydrogen symporter activity			skin(5)|central_nervous_system(1)	6						TTACCGGCTTCGGCCCGTGGG	0.726		NaN											0	0	0	1	0	4	9				
FILIP1	27145	broad.mit.edu	37	6	76023801	76023801	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr6:76023801C>T	uc003pia.2	-	5	2120	c.1747G>A	c.(1747-1749)GAA>AAA	p.E583K	FILIP1_uc003phy.1_Missense_Mutation_p.E583K|FILIP1_uc003phz.2_Missense_Mutation_p.E484K|FILIP1_uc010kbe.2_Missense_Mutation_p.E586K|FILIP1_uc003pib.1_Missense_Mutation_p.E335K	NM_015687	NP_056502	Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	583	Potential.									skin(3)|ovary(1)	4						GATTTTTCTTCTTCACTTTTC	0.338		NaN											0	0	0	1	0	23	50				
FILIP1	27145	broad.mit.edu	37	6	76063265	76063265	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr6:76063265C>G	uc003pia.2	-	4	992	c.619G>C	c.(619-621)GAG>CAG	p.E207Q	FILIP1_uc003phy.1_Missense_Mutation_p.E207Q|FILIP1_uc003phz.2_Missense_Mutation_p.E108Q|FILIP1_uc010kbe.2_Missense_Mutation_p.E210Q	NM_015687	NP_056502	Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	207	Potential.									skin(3)|ovary(1)	4						CTCTCCCGCTCCTGCTCCAGC	0.527		NaN											0	0	0	1	0	42	151				
FILIP1	27145	broad.mit.edu	37	6	76124427	76124427	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr6:76124427C>A	uc003pia.2	-	2	635	c.262G>T	c.(262-264)GAA>TAA	p.E88*	FILIP1_uc003phy.1_Nonsense_Mutation_p.E88*|FILIP1_uc010kbe.2_Nonsense_Mutation_p.E91*	NM_015687	NP_056502	Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	88				ELSKEDLIQLLSIMEGE -> AQYAIYIVSRLILLHFL (in Ref. 2; BAA86589).						skin(3)|ovary(1)	4						AACTCCCCTTCCATTATACTG	0.338		NaN											1	0	4.10826e-27	1	4.38543e-27	47	145				
FAM46A	55603	broad.mit.edu	37	6	82461733	82461733	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr6:82461733G>A	uc003pjg.2	-	2	444	c.126C>T	c.(124-126)TTC>TTT	p.F42F	FAM46A_uc003pjf.2_Silent_p.F61F|FAM46A_uc003pjh.1_Silent_p.F42F	NM_017633	NP_060103	Q96IP4	FA46A_HUMAN	hypothetical protein LOC55603	42	4.		Missing.								0		all_cancers(76;6.74e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000282)|all_epithelial(107;0.0104)		BRCA - Breast invasive adenocarcinoma(397;0.0428)		cgccaccgccgaagtcgccgc	0.388		NaN											0	0	0	1	0	20	32				
TPBG	7162	broad.mit.edu	37	6	83075366	83075366	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr6:83075366C>G	uc003pjn.3	+	3	1624	c.688C>G	c.(688-690)CTG>GTG	p.L230V	TPBG_uc010kbj.2_Missense_Mutation_p.L230V|TPBG_uc003pjo.2_Missense_Mutation_p.L230V	NM_006670	NP_006661	Q13641	TPBG_HUMAN	trophoblast glycoprotein precursor	230	Extracellular (Potential).|LRR 4.				cell adhesion	integral to plasma membrane				central_nervous_system(1)	1		all_cancers(76;0.000805)|Acute lymphoblastic leukemia(125;3.85e-06)|all_hematologic(105;0.0017)|all_epithelial(107;0.0897)		BRCA - Breast invasive adenocarcinoma(397;0.107)		GCGGGATGTGCTGGCCCAACT	0.627		NaN											0	0	0	1	0	42	128				
PREP	5550	broad.mit.edu	37	6	105800901	105800901	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr6:105800901G>A	uc003prc.2	-	7	972	c.769C>T	c.(769-771)CCA>TCA	p.P257S		NM_002726	NP_002717	P48147	PPCE_HUMAN	prolyl endopeptidase	257					proteolysis		serine-type endopeptidase activity			ovary(3)	3		all_cancers(87;0.000128)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0344)|Lung NSC(302;0.191)|Colorectal(196;0.202)			Oxytocin(DB00107)	CGGTTTACTGGATCACATCCT	0.378		NaN											0	0	0	1	0	35	124				
MICAL1	64780	broad.mit.edu	37	6	109771587	109771587	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr6:109771587C>G	uc003ptj.2	-	7	1361	c.1107G>C	c.(1105-1107)ATG>ATC	p.M369I	MICAL1_uc003ptk.2_Missense_Mutation_p.M369I|MICAL1_uc010kdr.2_Intron|MICAL1_uc011eaq.1_Missense_Mutation_p.M388I	NM_022765	NP_073602	Q8TDZ2	MICA1_HUMAN	microtubule associated monoxygenase, calponin	369					cytoskeleton organization|signal transduction	cytoplasm|intermediate filament	SH3 domain binding|zinc ion binding			breast(2)|ovary(1)	3		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)		Epithelial(106;0.0142)|all cancers(137;0.0197)|OV - Ovarian serous cystadenocarcinoma(136;0.0233)|BRCA - Breast invasive adenocarcinoma(108;0.0574)		CTGCCCGCATCATGCTCGTGA	0.607		NaN											0	0	0	1	0	30	83				
CDC40	51362	broad.mit.edu	37	6	110531931	110531931	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr6:110531931G>A	uc003pua.2	+	6	676	c.652G>A	c.(652-654)GAA>AAA	p.E218K		NM_015891	NP_056975	O60508	PRP17_HUMAN	cell division cycle 40 homolog	218					mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|nucleoplasm					0		all_cancers(87;6.23e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00159)|Colorectal(196;0.0488)		Epithelial(106;0.0221)|all cancers(137;0.0314)|OV - Ovarian serous cystadenocarcinoma(136;0.034)		AGAATTGGATGAAATCACAGC	0.318		NaN											0	0	0	1	0	8	10				
CDK19	23097	broad.mit.edu	37	6	111136325	111136325	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr6:111136325G>A	uc003puh.1	-	1	88	c.15C>T	c.(13-15)TTC>TTT	p.F5F	AMD1_uc011eay.1_Intron|CDK19_uc003pui.1_Intron|uc003puj.1_5'Flank|CDK19_uc010kdv.1_RNA	NM_015076	NP_055891	Q9BWU1	CDK19_HUMAN	cell division cycle 2-like 6 (CDK8-like)	5							ATP binding|cyclin-dependent protein kinase activity|protein binding			ovary(2)|central_nervous_system(1)|skin(1)	4						GCTTCGCCTTGAAATCATAAT	0.652		NaN											0	0	0	1	0	20	49				
REV3L	5980	broad.mit.edu	37	6	111632423	111632423	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr6:111632423C>G	uc003puy.3	-	29	8967	c.8644G>C	c.(8644-8646)GAT>CAT	p.D2882H	REV3L_uc003pux.3_Missense_Mutation_p.D2804H|REV3L_uc003puz.3_Missense_Mutation_p.D2804H|REV3L_uc003pva.1_RNA|REV3L_uc003puw.3_5'Flank	NM_002912	NP_002903	O60673	DPOLZ_HUMAN	DNA polymerase zeta	2882					DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding			large_intestine(2)|ovary(2)|skin(2)	6		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		AGACTTATATCTCTCGTTTCA	0.348		NaN						DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage					0	0	0	1	0	30	89				
RFPL4B	442247	broad.mit.edu	37	6	112671523	112671523	+	Missense_Mutation	SNP	C	C	G	rs143103700	byFrequency	TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr6:112671523C>G	uc003pvx.1	+	3	925	c.613C>G	c.(613-615)CGC>GGC	p.R205G		NM_001013734	NP_001013756	Q6ZWI9	RFPLB_HUMAN	ret finger protein-like 4B	205	B30.2/SPRY.						zinc ion binding				0		all_cancers(87;9.44e-05)|all_hematologic(75;0.000114)|all_epithelial(87;0.00265)|Colorectal(196;0.0209)		all cancers(137;0.0202)|OV - Ovarian serous cystadenocarcinoma(136;0.0477)|Epithelial(106;0.0646)|GBM - Glioblastoma multiforme(226;0.0866)|BRCA - Breast invasive adenocarcinoma(108;0.244)		CCCTCGCCTTCGCCGTGTGGG	0.448		NaN											0	0	0	1	0	21	50				
HS3ST5	222537	broad.mit.edu	37	6	114379227	114379227	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr6:114379227C>G	uc003pwg.3	-	2	267	c.235G>C	c.(235-237)GAG>CAG	p.E79Q	uc003pwf.2_Intron|HS3ST5_uc003pwh.3_Missense_Mutation_p.E79Q	NM_153612	NP_705840	Q8IZT8	HS3S5_HUMAN	heparan sulfate (glucosamine)	79	Lumenal (Potential).				heparan sulfate proteoglycan biosynthetic process, enzymatic modification|negative regulation of coagulation|protein sulfation|regulation of virion penetration into host cell	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity|protein binding			ovary(1)|pancreas(1)	2		all_cancers(87;0.0587)|Colorectal(196;0.0676)|all_epithelial(87;0.154)		OV - Ovarian serous cystadenocarcinoma(136;0.00937)|all cancers(137;0.0117)|Epithelial(106;0.0274)|GBM - Glioblastoma multiforme(226;0.143)		CGAACCTGCTCCTTGGAAGCG	0.597		NaN											0	0	0	1	0	14	69				
MAN1A1	4121	broad.mit.edu	37	6	119669725	119669725	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr6:119669725C>G	uc003pym.1	-	2	948	c.506G>C	c.(505-507)AGA>ACA	p.R169T	MAN1A1_uc010kei.1_Missense_Mutation_p.R169T	NM_005907	NP_005898	P33908	MA1A1_HUMAN	mannosidase, alpha, class 1A, member 1	169	Lumenal (Potential).				post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum|ER-Golgi intermediate compartment|Golgi membrane|integral to membrane|membrane fraction	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			ovary(2)|central_nervous_system(1)|skin(1)	4		all_epithelial(87;0.173)		OV - Ovarian serous cystadenocarcinoma(136;0.0612)|GBM - Glioblastoma multiforme(226;0.0702)|all cancers(137;0.115)		GGGCAGGCCTCTGAACGGCGC	0.632		NaN											0	0	0	1	0	28	99				
C6orf174	387104	broad.mit.edu	37	6	127796494	127796494	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr6:127796494C>G	uc003qbd.2	-	6	3542	c.2677G>C	c.(2677-2679)GAG>CAG	p.E893Q	C6orf174_uc003qbc.2_5'UTR	NM_001012279	NP_001012279	Q5TF21	CF174_HUMAN	hypothetical protein LOC387104 precursor	893						integral to membrane				breast(3)|ovary(2)|skin(1)	6				GBM - Glioblastoma multiforme(226;0.026)|all cancers(137;0.161)		TTGGGCACCTCGAGGCGGTCG	0.657		NaN											0	0	0	1	0	39	124				
LAMA2	3908	broad.mit.edu	37	6	129636636	129636636	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr6:129636636G>A	uc003qbn.2	+	25	3676	c.3571G>A	c.(3571-3573)GAG>AAG	p.E1191K	LAMA2_uc003qbo.2_Missense_Mutation_p.E1191K	NM_000426	NP_000417	P24043	LAMA2_HUMAN	laminin alpha 2 subunit isoform a precursor	1191	Laminin IV type A 2.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			ovary(8)|breast(1)|skin(1)	10				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		TCTGAAGGCTGAGCAGACCAT	0.463		NaN											0	0	0	1	0	22	71				
SAMD3	154075	broad.mit.edu	37	6	130535486	130535486	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr6:130535486G>C	uc003qbv.2	-	5	591	c.265C>G	c.(265-267)CGA>GGA	p.R89G	SAMD3_uc003qbx.2_Missense_Mutation_p.R89G|SAMD3_uc003qbw.2_Missense_Mutation_p.R89G|SAMD3_uc010kfg.1_Missense_Mutation_p.R89G|SAMD3_uc003qby.2_Missense_Mutation_p.R89G|SAMD3_uc003qbz.1_Missense_Mutation_p.R48G	NM_001017373	NP_001017373	Q8N6K7	SAMD3_HUMAN	sterile alpha motif domain containing 3 isoform	89										ovary(1)	1				GBM - Glioblastoma multiforme(226;0.00594)|OV - Ovarian serous cystadenocarcinoma(155;0.128)		ACTCACTCTCGAGCTGCTTCT	0.423		NaN											0	0	0	1	0	34	121				
SLC2A12	154091	broad.mit.edu	37	6	134350213	134350213	+	Silent	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr6:134350213G>C	uc003qem.1	-	2	921	c.750C>G	c.(748-750)CTC>CTG	p.L250L		NM_145176	NP_660159	Q8TD20	GTR12_HUMAN	solute carrier family 2 (facilitated glucose	250	Cytoplasmic (Potential).					endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane	D-glucose transmembrane transporter activity			ovary(1)	1	Breast(56;0.214)|Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.0101)|GBM - Glioblastoma multiforme(68;0.0123)		TGATCACAGTGAGTTCCTCAG	0.443		NaN											0	0	0	1	0	18	67				
MAP7	9053	broad.mit.edu	37	6	136683622	136683622	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr6:136683622C>G	uc003qgz.2	-	11	1738	c.1492G>C	c.(1492-1494)GAA>CAA	p.E498Q	MAP7_uc011edf.1_Missense_Mutation_p.E483Q|MAP7_uc011edg.1_Missense_Mutation_p.E528Q|MAP7_uc010kgu.2_Missense_Mutation_p.E520Q|MAP7_uc011edh.1_Missense_Mutation_p.E483Q|MAP7_uc010kgv.2_Missense_Mutation_p.E520Q|MAP7_uc010kgs.2_Missense_Mutation_p.E352Q|MAP7_uc011edi.1_Missense_Mutation_p.E352Q|MAP7_uc010kgq.1_Missense_Mutation_p.E404Q|MAP7_uc003qha.1_Missense_Mutation_p.E461Q	NM_003980	NP_003971	Q14244	MAP7_HUMAN	microtubule-associated protein 7	498	Potential.				establishment or maintenance of cell polarity|microtubule cytoskeleton organization|protein localization in plasma membrane|response to osmotic stress	basolateral plasma membrane|microtubule|microtubule associated complex|nucleus|perinuclear region of cytoplasm	receptor binding|structural molecule activity				0	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00199)|OV - Ovarian serous cystadenocarcinoma(155;0.00643)		CTCTCCCTTTCTTCCTTTTCT	0.527		NaN											0	0	0	1	0	47	150				
HECA	51696	broad.mit.edu	37	6	139487792	139487792	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr6:139487792C>T	uc003qin.2	+	2	928	c.643C>T	c.(643-645)CCT>TCT	p.P215S		NM_016217	NP_057301	Q9UBI9	HDC_HUMAN	headcase	215					respiratory tube development						0				GBM - Glioblastoma multiforme(68;0.000252)|OV - Ovarian serous cystadenocarcinoma(155;0.000387)		AGGGAGGCCTCCTGGTGAGGC	0.597		NaN											0	0	0	1	0	14	48				
SHPRH	257218	broad.mit.edu	37	6	146275900	146275900	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr6:146275900C>G	uc003qlf.2	-	2	958	c.559G>C	c.(559-561)GAA>CAA	p.E187Q	SHPRH_uc003qld.2_Missense_Mutation_p.E187Q|SHPRH_uc003qle.2_Missense_Mutation_p.E187Q|SHPRH_uc003qlg.1_5'UTR|SHPRH_uc003qlj.1_Missense_Mutation_p.E76Q|SHPRH_uc003qlk.1_Missense_Mutation_p.E187Q	NM_001042683	NP_001036148	Q149N8	SHPRH_HUMAN	SNF2 histone linker PHD RING helicase isoform a	187					DNA repair|nucleosome assembly	nucleosome|nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding			ovary(1)|kidney(1)|central_nervous_system(1)	3		Ovarian(120;0.0365)		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)		CCCAAATCTTCTAACATTTCA	0.363		NaN											0	0	0	1	0	15	70				
SLC22A3	6581	broad.mit.edu	37	6	160769463	160769463	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr6:160769463C>G	uc003qti.2	+	1	39	c.12C>G	c.(10-12)TTC>TTG	p.F4L	SLC22A3_uc011efx.1_RNA	NM_021977	NP_068812	O75751	S22A3_HUMAN	solute carrier family 22 member 3	4						integral to plasma membrane|membrane fraction	protein binding|quaternary ammonium group transmembrane transporter activity			skin(2)|ovary(1)|central_nervous_system(1)	4		Breast(66;0.00028)|Ovarian(120;0.0308)|Prostate(117;0.218)		OV - Ovarian serous cystadenocarcinoma(65;9.47e-17)|BRCA - Breast invasive adenocarcinoma(81;9.75e-06)		TGCCCTCCTTCGACGAGGCGC	0.577		NaN											0	0	0	1	0	12	33				
LPA	4018	broad.mit.edu	37	6	161015047	161015047	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr6:161015047G>A	uc003qtl.2	-	23	3692	c.3572C>T	c.(3571-3573)TCT>TTT	p.S1191F		NM_005577	NP_005568	P08519	APOA_HUMAN	lipoprotein Lp(a) precursor	3699	Kringle 33.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity			ovary(3)|skin(2)|pancreas(1)	6		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	AGAGGACCAAGACTGACATGT	0.498		NaN											0	0	0	1	0	34	84				
TTLL2	83887	broad.mit.edu	37	6	167754887	167754887	+	Nonsense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr6:167754887C>G	uc003qvs.1	+	3	1587	c.1499C>G	c.(1498-1500)TCA>TGA	p.S500*	TTLL2_uc011egr.1_RNA	NM_031949	NP_114155	Q9BWV7	TTLL2_HUMAN	tubulin tyrosine ligase-like family, member 2	500					protein modification process		ATP binding|tubulin-tyrosine ligase activity			ovary(1)|central_nervous_system(1)|skin(1)	3		Breast(66;7.8e-06)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		TTTCATCTGTCAACAAGGGAG	0.567		NaN											0	0	0	1	0	18	91				
GET4	51608	broad.mit.edu	37	7	926275	926275	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr7:926275G>A	uc003sjl.1	+	3	396	c.304G>A	c.(304-306)GAC>AAC	p.D102N	GET4_uc003sjj.1_RNA	NM_015949	NP_057033	Q7L5D6	GET4_HUMAN	hypothetical protein LOC51608	102					tail-anchored membrane protein insertion into ER membrane|transport	BAT3 complex	protein binding				0						GGAGGTGGCTGACGAGCTGCT	0.607		NaN											0	0	0	1	0	30	76				
RBAK	57786	broad.mit.edu	37	7	5104113	5104113	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr7:5104113G>C	uc010kss.1	+	6	1350	c.1026G>C	c.(1024-1026)GAG>GAC	p.E342D	LOC389458_uc003snr.2_Intron|RBAK_uc003sns.1_Missense_Mutation_p.E342D	NM_021163	NP_066986	Q9NYW8	RBAK_HUMAN	RB-associated KRAB repressor	342					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			ovary(3)|kidney(1)|skin(1)	5		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0916)|OV - Ovarian serous cystadenocarcinoma(56;2.44e-14)		ATTCAGGAGAGAAACCCTACG	0.443		NaN											0	0	0	1	0	40	104				
RBAK	57786	broad.mit.edu	37	7	5104735	5104735	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr7:5104735G>C	uc010kss.1	+	6	1972	c.1648G>C	c.(1648-1650)GAG>CAG	p.E550Q	LOC389458_uc003snr.2_Intron|RBAK_uc003sns.1_Missense_Mutation_p.E550Q	NM_021163	NP_066986	Q9NYW8	RBAK_HUMAN	RB-associated KRAB repressor	550	Interaction with AR.|C2H2-type 11.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			ovary(3)|kidney(1)|skin(1)	5		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0916)|OV - Ovarian serous cystadenocarcinoma(56;2.44e-14)		GTTATTCAATGAGTTGTCATA	0.388		NaN											0	0	0	1	0	15	44				
ACTB	60	broad.mit.edu	37	7	5567464	5567464	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr7:5567464G>C	uc003sos.3	-	5	1079	c.1043C>G	c.(1042-1044)TCG>TGG	p.S348W	ACTB_uc003sor.3_Missense_Mutation_p.S226W|ACTB_uc003sot.3_Missense_Mutation_p.S348W|ACTB_uc003soq.3_Missense_Mutation_p.S226W|ACTB_uc010ksy.2_Missense_Mutation_p.S226W	NM_001101	NP_001092	P60709	ACTB_HUMAN	beta actin	348					'de novo' posttranslational protein folding|adherens junction organization|axon guidance|blood coagulation|cell junction assembly|cellular component movement	cytoskeleton|cytosol|MLL5-L complex|NuA4 histone acetyltransferase complex|ribonucleoprotein complex	ATP binding|kinesin binding|nitric-oxide synthase binding|structural constituent of cytoskeleton				0		Ovarian(82;0.0606)		UCEC - Uterine corpus endometrioid carcinoma (126;0.175)|OV - Ovarian serous cystadenocarcinoma(56;4.24e-37)		GGTGGACAGCGAGGCCAGGAT	0.587		NaN											0	0	0	1	0	34	137				
USP42	84132	broad.mit.edu	37	7	6193699	6193699	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr7:6193699G>A	uc011jwo.1	+	15	2637	c.2514G>A	c.(2512-2514)ATG>ATA	p.M838I	USP42_uc011jwp.1_Missense_Mutation_p.M838I|USP42_uc011jwq.1_Missense_Mutation_p.M645I|USP42_uc011jwr.1_Missense_Mutation_p.M683I	NM_032172	NP_115548	Q9H9J4	UBP42_HUMAN	ubiquitin specific peptidase 42	838	Pro-rich.				cell differentiation|protein deubiquitination|spermatogenesis|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			skin(2)|ovary(1)|pancreas(1)|breast(1)	5		Ovarian(82;0.0423)		UCEC - Uterine corpus endometrioid carcinoma (126;0.108)|OV - Ovarian serous cystadenocarcinoma(56;5.77e-14)		CAAAGGGGATGATCGCGGAGG	0.701		NaN											0	0	0	1	0	32	94				
ZNF12	7559	broad.mit.edu	37	7	6731839	6731839	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr7:6731839C>G	uc003sqt.1	-	5	1288	c.734G>C	c.(733-735)GGA>GCA	p.G245A	ZNF12_uc011jxa.1_Missense_Mutation_p.G83A|ZNF12_uc003sqs.1_Missense_Mutation_p.G207A	NM_016265	NP_057349	P17014	ZNF12_HUMAN	zinc finger protein 12 isoform a	245					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Ovarian(82;0.0776)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0231)		TATTTCAGATCCATTCCACTT	0.393		NaN											0	0	0	1	0	11	32				
ZNF12	7559	broad.mit.edu	37	7	6731904	6731904	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr7:6731904C>G	uc003sqt.1	-	5	1223	c.669G>C	c.(667-669)CAG>CAC	p.Q223H	ZNF12_uc011jxa.1_Missense_Mutation_p.Q61H|ZNF12_uc003sqs.1_Missense_Mutation_p.Q185H	NM_016265	NP_057349	P17014	ZNF12_HUMAN	zinc finger protein 12 isoform a	223					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Ovarian(82;0.0776)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0231)		GGAAGGCTTTCTGGCATTCAA	0.348		NaN											0	0	0	1	0	3	26				
SNX13	23161	broad.mit.edu	37	7	17931249	17931249	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr7:17931249C>T	uc003stw.1	-	4	451	c.238G>A	c.(238-240)GAA>AAA	p.E80K	SNX13_uc003stv.2_Missense_Mutation_p.E80K|SNX13_uc010kuc.2_5'UTR|SNX13_uc003stx.1_5'UTR|SNX13_uc003sty.2_Missense_Mutation_p.E80K			Q9Y5W8	SNX13_HUMAN	SubName: Full=Putative uncharacterized protein SNX13; SubName: Full=Sorting nexin 13, isoform CRA_g;	80					cell communication|intracellular protein transport|negative regulation of signal transduction|positive regulation of GTPase activity	early endosome membrane	phosphatidylinositol binding|signal transducer activity			central_nervous_system(2)|kidney(1)	3	Lung NSC(10;0.0261)|all_lung(11;0.0521)					CGTTTCATTTCTTCTAAGCAC	0.368		NaN											0	0	0	1	0	5	21				
DNAH11	8701	broad.mit.edu	37	7	21640356	21640356	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr7:21640356G>A	uc003svc.2	+	16	3094	c.3063G>A	c.(3061-3063)GTG>GTA	p.V1021V		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	1021	Stem (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						ACAGAGTGGTGAATGTCATCA	0.428		NaN							Kartagener_syndrome				0	0	0	1	0	47	145				
DNAH11	8701	broad.mit.edu	37	7	21856220	21856220	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr7:21856220G>A	uc003svc.2	+	65	10520	c.10489G>A	c.(10489-10491)GAG>AAG	p.E3497K		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	3497	AAA 5 (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						AACACACTGTGAGCGCTGGCC	0.488		NaN							Kartagener_syndrome				0	0	0	1	0	9	27				
HNRNPA2B1	3181	broad.mit.edu	37	7	26236541	26236541	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr7:26236541C>G	uc003sxr.3	-	5	613	c.397G>C	c.(397-399)GAG>CAG	p.E133Q	HNRNPA2B1_uc003sxs.3_Missense_Mutation_p.E121Q	NM_031243	NP_112533	P22626	ROA2_HUMAN	heterogeneous nuclear ribonucleoprotein A2/B1	133	RRM 2.				RNA transport	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm	nucleotide binding|protein binding|protein binding|RNA binding|single-stranded telomeric DNA binding			ovary(1)|central_nervous_system(1)|skin(1)	3						CCATATTCCTCAAAGTAATCT	0.383		NaN	T	ETV1	prostate								0	0	0	1	0	43	90				
HNRNPA2B1	3181	broad.mit.edu	37	7	26240221	26240221	+	Translation_Start_Site	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr7:26240221G>C	uc003sxr.3	-	1	193	c.-23C>G	c.(-25--21)ATCGG>ATGGG		HNRNPA2B1_uc003sxs.3_Translation_Start_Site|CBX3_uc003sxt.2_5'Flank|CBX3_uc003sxu.2_5'Flank|CBX3_uc003sxv.2_5'Flank	NM_031243	NP_112533	P22626	ROA2_HUMAN	heterogeneous nuclear ribonucleoprotein A2/B1						RNA transport	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm	nucleotide binding|protein binding|protein binding|RNA binding|single-stranded telomeric DNA binding			ovary(1)|central_nervous_system(1)|skin(1)	3						GCTTCAGCCCGATTTCCCGCA	0.577		NaN	T	ETV1	prostate								0	0	0	1	0	48	166				
CHN2	1124	broad.mit.edu	37	7	29440222	29440222	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr7:29440222G>C	uc003szz.2	+	6	791	c.354G>C	c.(352-354)AAG>AAC	p.K118N	CHN2_uc011jzs.1_Missense_Mutation_p.K193N|CHN2_uc010kva.2_Intron|CHN2_uc010kvb.2_Intron|CHN2_uc010kvc.2_Missense_Mutation_p.K83N|CHN2_uc011jzt.1_Missense_Mutation_p.K131N|CHN2_uc010kvd.2_Intron|CHN2_uc011jzu.1_Missense_Mutation_p.K103N	NM_004067	NP_004058	P52757	CHIO_HUMAN	beta chimerin isoform 2	118	SH2.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|membrane	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity			ovary(2)	2						TGGGTGAGAAGAGGTTTGAGT	0.448		NaN											0	0	0	1	0	24	65				
GHRHR	2692	broad.mit.edu	37	7	31013635	31013635	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr7:31013635C>T	uc003tbx.2	+	7	681	c.633C>T	c.(631-633)TTC>TTT	p.F211F	GHRHR_uc003tbw.1_Silent_p.F211F|GHRHR_uc003tby.2_Silent_p.F147F|GHRHR_uc003tbz.2_Intron	NM_000823	NP_000814	Q02643	GHRHR_HUMAN	growth hormone releasing hormone receptor	211	Helical; Name=3; (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of cell proliferation|positive regulation of growth hormone secretion|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of multicellular organism growth|response to estrogen stimulus|response to glucocorticoid stimulus	cell surface|integral to membrane|nuclear inner membrane|nuclear matrix|nuclear outer membrane|plasma membrane|stored secretory granule	growth factor binding|growth hormone-releasing hormone receptor activity|peptide hormone binding			ovary(2)|lung(1)|breast(1)|large_intestine(1)	5					Sermorelin(DB00010)	CCTCCCATTTCGCCACCATGA	0.627		NaN											0	0	0	1	0	40	85				
ADCYAP1R1	117	broad.mit.edu	37	7	31126105	31126105	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr7:31126105C>T	uc003tca.1	+	10	1000	c.777C>T	c.(775-777)TTC>TTT	p.F259F	ADCYAP1R1_uc003tcb.1_Silent_p.F238F|ADCYAP1R1_uc003tcc.1_Silent_p.F259F|ADCYAP1R1_uc003tcd.1_Silent_p.F259F|ADCYAP1R1_uc003tce.1_Silent_p.F259F|ADCYAP1R1_uc003tcf.1_5'Flank	NM_001118	NP_001109	P41586	PACR_HUMAN	adenylate cyclase activating polypeptide 1	259	Cytoplasmic (Potential).				activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|spermatogenesis	integral to plasma membrane	vasoactive intestinal polypeptide receptor activity			ovary(1)	1						TGGAGACCTTCTTCCCTGAAA	0.532		NaN											0	0	0	1	0	9	48				
KBTBD2	25948	broad.mit.edu	37	7	32914744	32914744	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr7:32914744C>T	uc003tdb.2	-	3	855	c.196G>A	c.(196-198)GAA>AAA	p.E66K	AVL9_uc011kai.1_Intron	NM_015483	NP_056298	Q8IY47	KBTB2_HUMAN	kelch repeat and BTB (POZ) domain containing 2	66	BTB.										0			GBM - Glioblastoma multiforme(11;0.0499)			TGTTTGCTTTCACTTAGTCCA	0.393		NaN											0	0	0	1	0	35	142				
ELMO1	9844	broad.mit.edu	37	7	37298857	37298857	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr7:37298857G>A	uc003tfk.1	-	6	649	c.342C>T	c.(340-342)GTC>GTT	p.V114V	ELMO1_uc011kbc.1_Silent_p.V18V|ELMO1_uc010kxg.1_Silent_p.V114V	NM_014800	NP_055615	Q92556	ELMO1_HUMAN	engulfment and cell motility 1 isoform 1	114					actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|plasma membrane	SH3 domain binding			ovary(3)|skin(2)|upper_aerodigestive_tract(1)	6						GGGCAAACGTGACATCCCGGG	0.547		NaN											0	0	0	1	0	11	40				
CAMK2B	816	broad.mit.edu	37	7	44364973	44364973	+	Silent	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr7:44364973G>C	uc003tkq.2	-	1	258	c.48C>G	c.(46-48)CTC>CTG	p.L16L	CAMK2B_uc003tkp.2_Silent_p.L16L|CAMK2B_uc003tkx.2_Silent_p.L16L|CAMK2B_uc010kyd.2_RNA|CAMK2B_uc003tkr.2_Silent_p.L16L|CAMK2B_uc003tks.2_Silent_p.L16L|CAMK2B_uc003tku.2_Silent_p.L16L|CAMK2B_uc003tkv.2_Silent_p.L16L|CAMK2B_uc003tkt.2_Silent_p.L16L|CAMK2B_uc003tkw.2_Silent_p.L16L|CAMK2B_uc010kyc.2_Silent_p.L16L	NM_001220	NP_001211	Q13554	KCC2B_HUMAN	calcium/calmodulin-dependent protein kinase II	16	Protein kinase.				interferon-gamma-mediated signaling pathway|synaptic transmission	cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			large_intestine(1)|ovary(1)	2						TATCCTCGTAGAGCTGGTACT	0.756		NaN											0	0	0	1	0	6	10				
NPC1L1	29881	broad.mit.edu	37	7	44576463	44576463	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr7:44576463G>T	uc003tlb.2	-	3	1715	c.1659C>A	c.(1657-1659)TTC>TTA	p.F553L	NPC1L1_uc003tlc.2_Missense_Mutation_p.F553L|NPC1L1_uc011kbw.1_Missense_Mutation_p.F553L|NPC1L1_uc003tld.2_Missense_Mutation_p.F553L	NM_013389	NP_037521	Q9UHC9	NPCL1_HUMAN	Niemann-Pick C1-like protein 1 isoform 1	553	Extracellular (Potential).				cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding			ovary(3)|central_nervous_system(1)|skin(1)	5					Ezetimibe(DB00973)	CAATGGCAAGGAAGGGGAAGA	0.597		NaN											1	0	1.9806e-07	1	2.0496e-07	23	62				
ABCA13	154664	broad.mit.edu	37	7	48273724	48273724	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr7:48273724G>A	uc003toq.2	+	8	898	c.873G>A	c.(871-873)CTG>CTA	p.L291L	ABCA13_uc010kyr.2_5'UTR	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	ATP binding cassette, sub-family A (ABC1),	291					transport	integral to membrane	ATP binding|ATPase activity			ovary(5)|central_nervous_system(4)|skin(1)	10						AACAGATCCTGAACTCTTCAG	0.502		NaN											0	0	0	1	0	26	78				
EGFR	1956	broad.mit.edu	37	7	55270282	55270282	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr7:55270282G>A	uc003tqk.2	+	27	3481	c.3235G>A	c.(3235-3237)GAG>AAG	p.E1079K	EGFR_uc010kzg.1_Missense_Mutation_p.E1034K|EGFR_uc011kco.1_Missense_Mutation_p.E1026K	NM_005228	NP_005219	P00533	EGFR_HUMAN	epidermal growth factor receptor isoform a	1079	Cytoplasmic (Potential).				activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1)	9571	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	CGCCTTGACTGAGGACAGCAT	0.567		8	A|O|Mis		glioma|NSCLC	NSCLC			Lung_Cancer_Familial_Clustering_of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			0	0	0	1	0	8	18				
ZNF107	51427	broad.mit.edu	37	7	64168318	64168318	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr7:64168318C>T	uc003ttd.2	+	7	2422	c.1636C>T	c.(1636-1638)CAT>TAT	p.H546Y	ZNF107_uc003tte.2_Missense_Mutation_p.H546Y	NM_016220	NP_057304	Q9UII5	ZN107_HUMAN	zinc finger protein 107	546	C2H2-type 17; atypical.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Lung NSC(55;0.00948)|all_lung(88;0.0249)				TAAAATTATTCATACTGGAGA	0.348		NaN											0	0	0	1	0	11	35				
SBDS	51119	broad.mit.edu	37	7	66453431	66453431	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr7:66453431T>C	uc003tvm.1	-	5	864	c.680A>G	c.(679-681)GAA>GGA	p.E227G		NM_016038	NP_057122	Q9Y3A5	SBDS_HUMAN	Shwachman-Bodian-Diamond syndrome protein	227					bone marrow development|bone mineralization|leukocyte chemotaxis|mature ribosome assembly|mitotic spindle stabilization|positive regulation of translation|ribosomal large subunit biogenesis|rRNA processing	cytoplasm|nucleolus|nucleoplasm|spindle pole	microtubule binding|ribosome binding|rRNA binding			ovary(1)	1						GCCTTTAGTTTCCTTTTTTAT	0.388		NaN	Gene Conversion			AML|MDS			Shwachman-Diamond_syndrome				0	0	0	1	0	16	48				
CACNA2D1	781	broad.mit.edu	37	7	81600022	81600022	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr7:81600022C>G	uc003uhr.1	-	27	2429	c.2173G>C	c.(2173-2175)GAT>CAT	p.D725H	CACNA2D1_uc011kgy.1_5'UTR	NM_000722	NP_000713	P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha	737	Extracellular (Potential).					voltage-gated calcium channel complex	metal ion binding			ovary(5)|pancreas(1)	6					Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)	ATCCCACCATCAGTCACAACA	0.353		NaN											0	0	0	1	0	12	73				
STEAP1	26872	broad.mit.edu	37	7	89790200	89790200	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr7:89790200G>C	uc003ujx.2	+	3	366	c.166G>C	c.(166-168)GAC>CAC	p.D56H	STEAP1_uc010lem.2_Missense_Mutation_p.D56H	NM_012449	NP_036581	Q9UHE8	STEA1_HUMAN	six transmembrane epithelial antigen of the	56					electron transport chain|ion transport|iron ion homeostasis	cell-cell junction|endosome membrane|integral to plasma membrane	channel activity|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity				0	all_hematologic(106;0.112)					TGATGAATTTGACTGCCCTTC	0.423		NaN											0	0	0	1	0	40	155				
SAMD9	54809	broad.mit.edu	37	7	92732279	92732279	+	Missense_Mutation	SNP	T	T	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr7:92732279T>A	uc003umf.2	-	3	3388	c.3132A>T	c.(3130-3132)GAA>GAT	p.E1044D	SAMD9_uc003umg.2_Missense_Mutation_p.E1044D	NM_017654	NP_060124	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	1044						cytoplasm				ovary(3)|skin(2)|breast(1)|central_nervous_system(1)	7	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			CTGTTTCACCTTCATGTTCAT	0.378		NaN											0	0	0	1	0	19	35				
TFPI2	7980	broad.mit.edu	37	7	93516176	93516176	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr7:93516176G>A	uc003umy.1	-	5	739	c.664C>T	c.(664-666)CGC>TGC	p.R222C	GNGT1_uc003umx.1_Intron|TFPI2_uc003umz.1_3'UTR|TFPI2_uc003una.1_Missense_Mutation_p.R211C|TFPI2_uc003unb.1_Missense_Mutation_p.R228C|TFPI2_uc010lfg.1_Missense_Mutation_p.R98C	NM_006528	NP_006519	P48307	TFPI2_HUMAN	tissue factor pathway inhibitor 2 precursor	222					blood coagulation	proteinaceous extracellular matrix	extracellular matrix structural constituent|serine-type endopeptidase inhibitor activity			pancreas(1)	1	all_cancers(62;4.45e-10)|all_epithelial(64;2.92e-09)|Lung NSC(181;0.218)		STAD - Stomach adenocarcinoma(171;0.000967)			CTGGCAAAGCGAAGCTTTGGC	0.328		NaN											0	0	0	1	0	11	52				
PEG10	23089	broad.mit.edu	37	7	94293511	94293511	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr7:94293511C>T	uc011kie.1	+	2	1088	c.871C>T	c.(871-873)CAG>TAG	p.Q291*		NM_001040152	NP_001035242	Q86TG7	PEG10_HUMAN	paternally expressed 10 isoform RF1	215	Necessary for interaction with ALK1.				apoptosis|cell differentiation|negative regulation of transforming growth factor beta receptor signaling pathway	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			central_nervous_system(1)	1	all_cancers(62;8.26e-10)|all_epithelial(64;5.59e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			CGACCACATTCAGGAGGAGCT	0.582		NaN											0	0	0	1	0	38	131				
PON1	5444	broad.mit.edu	37	7	94935662	94935662	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr7:94935662C>G	uc003uns.2	-	7	812	c.715G>C	c.(715-717)GAG>CAG	p.E239Q	PON1_uc011kih.1_Missense_Mutation_p.E239Q	NM_000446	NP_000437	P27169	PON1_HUMAN	paraoxonase 1 precursor	239					aromatic compound catabolic process|carboxylic acid catabolic process|organophosphate catabolic process|phosphatidylcholine metabolic process|positive regulation of binding|positive regulation of cholesterol efflux|positive regulation of transporter activity|response to external stimulus	spherical high-density lipoprotein particle	aryldialkylphosphatase activity|arylesterase activity|calcium ion binding|phospholipid binding|protein homodimerization activity			pancreas(1)	1	all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239)		STAD - Stomach adenocarcinoma(171;0.0031)		Atorvastatin(DB01076)|Cefazolin(DB01327)	GCCAGCAACTCAGCTATATAG	0.353		NaN											0	0	0	1	0	20	64				
TRRAP	8295	broad.mit.edu	37	7	98533223	98533223	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr7:98533223G>A	uc003upp.2	+	28	4245	c.4036G>A	c.(4036-4038)GAA>AAA	p.E1346K	TRRAP_uc011kis.1_Missense_Mutation_p.E1346K|TRRAP_uc003upr.2_Missense_Mutation_p.E1038K	NM_003496	NP_003487	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated	1346					histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			ovary(9)|large_intestine(8)|central_nervous_system(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(1)|lung(1)|liver(1)	37	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			GTGTGAGGCTGAAGATTCAGC	0.388		NaN											0	0	0	1	0	7	30				
PDAP1	11333	broad.mit.edu	37	7	99002548	99002548	+	Silent	SNP	C	C	T	rs139029496		TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr7:99002548C>T	uc003uqe.2	-	2	163	c.42G>A	c.(40-42)GCG>GCA	p.A14A		NM_014891	NP_055706	Q13442	HAP28_HUMAN	PDGFA associated protein 1	14					cell proliferation|signal transduction						0	all_cancers(62;3.49e-09)|all_epithelial(64;2.57e-10)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		STAD - Stomach adenocarcinoma(171;0.215)		Becaplermin(DB00102)	TATACTGCCTCGCCCGGCCTT	0.632		NaN											0	0	0	1	0	15	62				
BUD31	8896	broad.mit.edu	37	7	99013816	99013816	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr7:99013816C>G	uc003uqf.2	+	4	351	c.150C>G	c.(148-150)TTC>TTG	p.F50L	BUD31_uc011kiu.1_Missense_Mutation_p.F50L|BUD31_uc011kiv.1_Missense_Mutation_p.F50L|BUD31_uc003uqg.3_Missense_Mutation_p.F50L	NM_003910	NP_003901	P41223	BUD31_HUMAN	G10 protein	50					regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity			ovary(1)	1	all_cancers(62;1.76e-08)|all_epithelial(64;1.63e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		STAD - Stomach adenocarcinoma(171;0.215)			GGCCCATCTTCAGGATCCACC	0.493		NaN											0	0	0	1	0	30	79				
CPSF4	10898	broad.mit.edu	37	7	99050001	99050001	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr7:99050001G>C	uc003uqj.2	+	6	651	c.508G>C	c.(508-510)GAA>CAA	p.E170Q	PTCD1_uc011kiw.1_Intron|CPSF4_uc003uqi.2_Missense_Mutation_p.E170Q|CPSF4_uc003uqk.2_Missense_Mutation_p.E170Q|CPSF4_uc011kix.1_Missense_Mutation_p.E117Q	NM_006693	NP_006684	O95639	CPSF4_HUMAN	cleavage and polyadenylation specific factor 4,	170					modification by virus of host mRNA processing|mRNA processing|viral infectious cycle	mRNA cleavage and polyadenylation specificity factor complex	RNA binding|zinc ion binding			central_nervous_system(1)	1	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					CCCTCGATTTGAACTGCCCAT	0.592		NaN											0	0	0	1	0	71	243				
CYP3A43	64816	broad.mit.edu	37	7	99453289	99453289	+	Nonsense_Mutation	SNP	T	T	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr7:99453289T>A	uc003urx.1	+	8	849	c.746T>A	c.(745-747)TTA>TAA	p.L249*	CYP3A43_uc003ury.1_Nonsense_Mutation_p.L249*|CYP3A43_uc003urz.1_Nonsense_Mutation_p.L249*|CYP3A43_uc003usa.1_RNA|CYP3A43_uc010lgi.1_Nonsense_Mutation_p.L139*|CYP3A43_uc003usb.1_Intron	NM_057095	NP_476436	Q9HB55	CP343_HUMAN	cytochrome P450, family 3, subfamily A,	249			Missing (in allele CYP3A43*2).		xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding			ovary(1)|skin(1)	2	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)				Cetirizine(DB00341)|Doxycycline(DB00254)	ACCCATTTTTTAAAAAATTCC	0.244		NaN											0	0	0	1	0	7	17				
PILRB	29990	broad.mit.edu	37	7	99957061	99957061	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr7:99957061C>T	uc003uuk.2	+	17	3052	c.556C>T	c.(556-558)CTG>TTG	p.L186L	PILRB_uc003uul.2_Missense_Mutation_p.S116F|PILRB_uc003uun.2_Silent_p.L186L	NM_013440	NP_038468	Q9UKJ0	PILRB_HUMAN	paired immunoglobulin-like type 2 receptor beta	186	Extracellular (Potential).				activation of transmembrane receptor protein tyrosine kinase activity	integral to plasma membrane	protein binding|receptor activity				0	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GCACCTAAGTCTGGACACTGC	0.562		NaN											0	0	0	1	0	22	76				
C7orf51	222950	broad.mit.edu	37	7	100084635	100084635	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr7:100084635C>T	uc003uvd.1	+	3	419	c.260C>T	c.(259-261)TCG>TTG	p.S87L	C7orf51_uc003uve.1_5'Flank	NM_173564	NP_775835	Q6ZVC0	CG051_HUMAN	hypothetical protein FLJ37538	87										skin(1)	1	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TCCTGCCACTCGGTGGGCAGC	0.711		NaN											0	0	0	1	0	7	34				
C7orf51	222950	broad.mit.edu	37	7	100086600	100086600	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr7:100086600G>A	uc003uvd.1	+	4	1415	c.1256G>A	c.(1255-1257)CGG>CAG	p.R419Q	C7orf51_uc003uve.1_Missense_Mutation_p.R201Q	NM_173564	NP_775835	Q6ZVC0	CG051_HUMAN	hypothetical protein FLJ37538	419	Pro-rich.									skin(1)	1	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GGCCAGCCCCGGGGGGAGCGG	0.577		NaN											0	0	0	1	0	6	31				
ACTL6B	51412	broad.mit.edu	37	7	100245112	100245112	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr7:100245112C>T	uc003uvy.2	-	8	821	c.714G>A	c.(712-714)GAG>GAA	p.E238E	ACTL6B_uc003uvx.1_Silent_p.E29E|ACTL6B_uc003uvz.2_RNA	NM_016188	NP_057272	O94805	ACL6B_HUMAN	actin-like 6B	238					chromatin modification|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nBAF complex|SWI/SNF complex	ATP binding|protein binding|structural constituent of cytoskeleton			ovary(1)	1	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					GGGGTAGCTTCTCCTTCTTCT	0.612		NaN											0	0	0	1	0	27	99				
EPO	2056	broad.mit.edu	37	7	100320678	100320678	+	Silent	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr7:100320678C>G	uc003uwi.2	+	5	685	c.504C>G	c.(502-504)CTC>CTG	p.L168L	EPO_uc011kkc.1_Silent_p.L167L	NM_000799	NP_000790	P01588	EPO_HUMAN	erythropoietin precursor	168					blood circulation|cellular hyperosmotic response|erythrocyte maturation|negative regulation of apoptosis|negative regulation of ion transmembrane transporter activity|negative regulation of sodium ion transport|positive regulation of cell proliferation|positive regulation of DNA replication|positive regulation of Ras protein signal transduction|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of Stat5 protein|signal transduction	extracellular space	erythropoietin receptor binding|eukaryotic cell surface binding|hormone activity			central_nervous_system(2)	2	Lung NSC(181;0.041)|all_lung(186;0.0581)				Darbepoetin alfa(DB00012)|Epoetin alfa(DB00016)	TCCGCAAACTCTTCCGAGTCT	0.567		NaN											0	0	0	1	0	57	169				
PLOD3	8985	broad.mit.edu	37	7	100856159	100856159	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr7:100856159G>A	uc003uyd.2	-	8	1299	c.843C>T	c.(841-843)TTC>TTT	p.F281F	PLOD3_uc010lhs.2_5'Flank	NM_001084	NP_001075	O60568	PLOD3_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase	281					protein modification process	rough endoplasmic reticulum membrane	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein binding			ovary(1)|skin(1)	2	Lung NSC(181;0.168)|all_lung(186;0.215)				Succinic acid(DB00139)|Vitamin C(DB00126)	CCTGGTTGCAGAAGCCACAGC	0.647		NaN											0	0	0	1	0	19	43				
FBXL13	222235	broad.mit.edu	37	7	102462632	102462632	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr7:102462632C>G	uc003vaq.2	-	19	2300	c.1873G>C	c.(1873-1875)GAG>CAG	p.E625Q	FBXL13_uc010liq.1_Missense_Mutation_p.E158Q|FBXL13_uc010lir.1_Missense_Mutation_p.E580Q|FBXL13_uc003var.2_RNA|FBXL13_uc003vas.2_Missense_Mutation_p.E597Q|FAM185A_uc011klh.1_Intron	NM_145032	NP_659469	Q8NEE6	FXL13_HUMAN	F-box and leucine-rich repeat protein 13 isoform	625	LRR 16.										0						GATAACATCTCCATTGCTGAG	0.373		NaN											0	0	0	1	0	19	56				
SLC26A5	375611	broad.mit.edu	37	7	103017300	103017300	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr7:103017300C>G	uc003vbz.2	-	19	2232	c.1996G>C	c.(1996-1998)GAA>CAA	p.E666Q	SLC26A5_uc003vbt.1_Missense_Mutation_p.E666Q|SLC26A5_uc003vbu.1_Intron|SLC26A5_uc003vbv.1_Intron|SLC26A5_uc003vbw.2_RNA|SLC26A5_uc003vbx.2_Missense_Mutation_p.E634Q|SLC26A5_uc003vby.2_RNA|SLC26A5_uc010liy.2_RNA	NM_198999	NP_945350	P58743	S26A5_HUMAN	prestin isoform a	666	Cytoplasmic (Potential).|STAS.				regulation of cell shape|sensory perception of sound	integral to membrane	secondary active sulfate transmembrane transporter activity			ovary(1)	1						TCTCCATATTCTTTTACAATC	0.328		NaN											0	0	0	1	0	5	34				
DOCK4	9732	broad.mit.edu	37	7	111541796	111541796	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr7:111541796C>T	uc003vfx.2	-	14	1523	c.1254G>A	c.(1252-1254)AAG>AAA	p.K418K	DOCK4_uc003vfy.2_Silent_p.K418K|DOCK4_uc003vga.1_Silent_p.K23K	NM_014705	NP_055520	Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	418	DHR-1.				cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding			ovary(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)	4		Acute lymphoblastic leukemia(1;0.0441)				TGGCCACGCTCTTCCCTCCTT	0.358		NaN											0	0	0	1	0	7	24				
MDFIC	29969	broad.mit.edu	37	7	114655760	114655760	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr7:114655760T>C	uc003vhf.2	+	5	1102	c.839T>C	c.(838-840)ATC>ACC	p.I280T		NM_199072	NP_951038	Q9P1T7	MDFIC_HUMAN	MyoD family inhibitor domain containing protein	171	Cys-rich.				activation of JUN kinase activity|interspecies interaction between organisms|negative regulation of protein import into nucleus|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|regulation of Wnt receptor signaling pathway|transcription, DNA-dependent	cytoplasm|cytoplasm|nucleolus|nucleolus|nucleus	cyclin binding|Tat protein binding			ovary(1)	1						GTCCACTGTATCCTGGCTTGC	0.443		NaN											0	0	0	1	0	92	317				
CTTNBP2	83992	broad.mit.edu	37	7	117431347	117431347	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr7:117431347G>A	uc003vjf.2	-	4	1995	c.1903C>T	c.(1903-1905)CAG>TAG	p.Q635*		NM_033427	NP_219499	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	635										ovary(4)|central_nervous_system(1)	5	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		GCACCCACCTGAGACGTGGCC	0.552		NaN											0	0	0	1	0	15	55				
C7orf58	79974	broad.mit.edu	37	7	120764493	120764493	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr7:120764493G>A	uc003vjq.3	+	8	1474	c.1027G>A	c.(1027-1029)GAA>AAA	p.E343K	C7orf58_uc003vjr.1_Missense_Mutation_p.E343K|C7orf58_uc003vjs.3_Missense_Mutation_p.E343K|C7orf58_uc003vjt.3_Missense_Mutation_p.E123K|C7orf58_uc010lkk.1_Missense_Mutation_p.E123K	NM_024913	NP_079189	A4D0V7	CG058_HUMAN	hypothetical protein LOC79974 isoform 1	343						endoplasmic reticulum				ovary(4)|large_intestine(2)|skin(2)|pancreas(1)	9	all_neural(327;0.117)					AGTATTCAGTGAAACATCTAC	0.338		NaN											0	0	0	1	0	7	35				
AASS	10157	broad.mit.edu	37	7	121738811	121738811	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr7:121738811C>G	uc003vka.2	-	13	1612	c.1516G>C	c.(1516-1518)GAA>CAA	p.E506Q	AASS_uc011knu.1_RNA|AASS_uc011knv.1_RNA|AASS_uc003vkb.2_Missense_Mutation_p.E506Q|AASS_uc011knw.1_Intron	NM_005763	NP_005754	Q9UDR5	AASS_HUMAN	aminoadipate-semialdehyde synthase precursor	506	Saccharopine dehydrogenase.				protein tetramerization	mitochondrial matrix	binding|saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity|saccharopine dehydrogenase (NADP+, L-lysine-forming) activity			upper_aerodigestive_tract(1)|ovary(1)	2					L-Glutamic Acid(DB00142)|NADH(DB00157)	ACTGTTATTTCTATATTGCCA	0.333		NaN											0	0	0	1	0	14	33				
CPA2	1358	broad.mit.edu	37	7	129916530	129916530	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr7:129916530C>T	uc003vpq.2	+	7	667	c.648C>T	c.(646-648)TTC>TTT	p.F216F	CPA2_uc011kpc.1_Silent_p.F216F	NM_001869	NP_001860	P48052	CBPA2_HUMAN	carboxypeptidase A2 (pancreatic) precursor	216					proteolysis|vacuolar protein catabolic process	extracellular region|vacuole	metallocarboxypeptidase activity|zinc ion binding			ovary(1)	1	Melanoma(18;0.0435)					TGGATATCTTCCTCCTGCCAG	0.453		NaN											0	0	0	1	0	24	89				
CPA1	1357	broad.mit.edu	37	7	130027841	130027841	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr7:130027841C>T	uc003vpx.2	+	10	1321	c.1249C>T	c.(1249-1251)CAC>TAC	p.H417Y		NM_001868	NP_001859	P15085	CBPA1_HUMAN	carboxypeptidase A1 precursor	417					proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			ovary(1)	1	Melanoma(18;0.0435)					CACCCTGAATCACCCCTACTG	0.567		NaN											0	0	0	1	0	66	233				
TMEM140	55281	broad.mit.edu	37	7	134849404	134849404	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr7:134849404G>A	uc003vsi.2	+	2	492	c.211G>A	c.(211-213)GAA>AAA	p.E71K	C7orf49_uc003vsh.2_Intron	NM_018295	NP_060765	Q9NV12	TM140_HUMAN	transmembrane protein 140	71	Extracellular (Potential).					integral to membrane				large_intestine(1)	1						CCCTGAGCTGGAAGCCCTGGG	0.622		NaN											0	0	0	1	0	48	115				
MGAM	8972	broad.mit.edu	37	7	141721466	141721466	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr7:141721466G>C	uc003vwy.2	+	6	693	c.639G>C	c.(637-639)TTG>TTC	p.L213F		NM_004668	NP_004659	O43451	MGA_HUMAN	maltase-glucoamylase	213	Lumenal (Potential).|Maltase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			ovary(2)	2	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	CTGCTTCTTTGACCTACCAAG	0.428		NaN											0	0	0	1	0	16	64				
EPHB6	2051	broad.mit.edu	37	7	142566063	142566063	+	Silent	SNP	T	T	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr7:142566063T>C	uc011kst.1	+	14	2770	c.1983T>C	c.(1981-1983)CTT>CTC	p.L661L	EPHB6_uc011ksu.1_Silent_p.L661L|EPHB6_uc003wbs.2_Silent_p.L369L|EPHB6_uc003wbt.2_Silent_p.L135L|EPHB6_uc003wbu.2_Silent_p.L369L|EPHB6_uc003wbv.2_Silent_p.L45L	NM_004445	NP_004436	O15197	EPHB6_HUMAN	ephrin receptor EphB6 precursor	661	Cytoplasmic (Potential).					extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity			lung(8)|large_intestine(4)|central_nervous_system(3)|stomach(1)|skin(1)|ovary(1)|pancreas(1)	19	Melanoma(164;0.059)					TCCGAGAACTTGCCCGGGAAG	0.567		NaN											0	0	0	1	0	20	79				
TRPV5	56302	broad.mit.edu	37	7	142612712	142612712	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr7:142612712G>A	uc003wby.1	-	9	1413	c.1149C>T	c.(1147-1149)ATC>ATT	p.I383I		NM_019841	NP_062815	Q9NQA5	TRPV5_HUMAN	transient receptor potential cation channel,	383	Extracellular (Potential).				protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity			ovary(3)|central_nervous_system(2)|skin(1)	6	Melanoma(164;0.059)					CCAGCCTGATGATATCTTCAC	0.527		NaN											0	0	0	1	0	16	50				
CUL1	8454	broad.mit.edu	37	7	148457547	148457547	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr7:148457547G>T	uc010lpg.2	+	7	1274	c.748G>T	c.(748-750)GAA>TAA	p.E250*	CUL1_uc003wey.2_Nonsense_Mutation_p.E250*|CUL1_uc003wez.2_Nonsense_Mutation_p.E140*	NM_003592	NP_003583	Q13616	CUL1_HUMAN	cullin 1	250					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein ubiquitination|S phase of mitotic cell cycle|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	cytosol|nucleoplasm|SCF ubiquitin ligase complex	ubiquitin protein ligase binding			lung(1)	1	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00291)			AGAGAGTACTGAATTCTTGCA	0.348		NaN											1	0	3.7052e-28	1	3.95767e-28	42	99				
EZH2	2146	broad.mit.edu	37	7	148512132	148512132	+	Splice_Site	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr7:148512132C>G	uc003wfd.1	-	14	1698	c.1532_splice	c.e14-1	p.D511_splice	EZH2_uc011kug.1_Intron|EZH2_uc003wfb.1_Splice_Site_p.D516_splice|EZH2_uc003wfc.1_Splice_Site_p.D472_splice|EZH2_uc011kuh.1_Splice_Site_p.D502_splice	NM_004456	NP_004447	Q15910	EZH2_HUMAN	enhancer of zeste 2 isoform a						negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	DNA binding|histone-lysine N-methyltransferase activity|protein binding			haematopoietic_and_lymphoid_tissue(180)|skin(2)|large_intestine(1)	183	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00239)			GAGGAGCCGTCTGAGTAAAGA	0.443		NaN	Mis		DLBCL								0	0	0	1	0	8	25				
EZH2	2146	broad.mit.edu	37	7	148514356	148514356	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr7:148514356G>A	uc003wfd.1	-	11	1519	c.1353C>T	c.(1351-1353)TTC>TTT	p.F451F	EZH2_uc011kug.1_Silent_p.F442F|EZH2_uc003wfb.1_Silent_p.F456F|EZH2_uc003wfc.1_Silent_p.F412F|EZH2_uc011kuh.1_Silent_p.F442F|EZH2_uc011kui.1_3'UTR	NM_004456	NP_004447	Q15910	EZH2_HUMAN	enhancer of zeste 2 isoform a	451					negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	DNA binding|histone-lysine N-methyltransferase activity|protein binding			haematopoietic_and_lymphoid_tissue(180)|skin(2)|large_intestine(1)	183	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00239)			CAATGGCACAGAAATTGTCAT	0.378		NaN	Mis		DLBCL								0	0	0	1	0	7	23				
SSPO	23145	broad.mit.edu	37	7	149503891	149503891	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr7:149503891C>G	uc010lpk.2	+	60	8719	c.8719C>G	c.(8719-8721)CGG>GGG	p.R2907G		NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	SCO-spondin precursor	2907					cell adhesion	extracellular space	peptidase inhibitor activity				0	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			TCCTTGCCCTCGGCTATGCCT	0.612		NaN											0	0	0	1	0	4	12				
ABCB8	11194	broad.mit.edu	37	7	150738289	150738289	+	Silent	SNP	C	C	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr7:150738289C>A	uc003wil.3	+	14	1731	c.1638C>A	c.(1636-1638)CTC>CTA	p.L546L	ABCB8_uc010lpw.1_3'UTR|ABCB8_uc010lpx.2_Silent_p.L529L|ABCB8_uc011kvd.1_Silent_p.L441L|ABCB8_uc003wim.3_Silent_p.L324L|ABCB8_uc003wik.3_Silent_p.L529L	NM_007188	NP_009119	Q9NUT2	ABCB8_HUMAN	ATP-binding cassette, sub-family B, member 8	546	ABC transporter.					ATP-binding cassette (ABC) transporter complex|integral to membrane|membrane fraction|mitochondrial inner membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(2)|upper_aerodigestive_tract(1)	3			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CCTCCTGGCTCCGGGGCCAGG	0.697		NaN											1	0	4.3838e-07	1	4.52823e-07	13	71				
AGAP3	116988	broad.mit.edu	37	7	150835257	150835257	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr7:150835257C>T	uc003wjg.1	+	12	1526	c.1523C>T	c.(1522-1524)TCC>TTC	p.S508F	AGAP3_uc003wje.1_Intron|AGAP3_uc003wjj.1_Intron|AGAP3_uc003wjk.1_5'Flank	NM_031946	NP_114152	Q96P47	AGAP3_HUMAN	centaurin, gamma 3 isoform a	472	PH.				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm|membrane	ARF GTPase activator activity|GTP binding|GTPase activity|zinc ion binding			central_nervous_system(2)|ovary(1)	3						AGCAGCGCATCCCTGCACTCT	0.682		NaN											0	0	0	1	0	7	27				
GALNT11	63917	broad.mit.edu	37	7	151802337	151802337	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr7:151802337G>A	uc010lqg.1	+	5	824	c.594G>A	c.(592-594)TTG>TTA	p.L198L	GALNT11_uc011kvm.1_Silent_p.L117L|GALNT11_uc003wku.2_Silent_p.L198L|GALNT11_uc011kvn.1_RNA|GALNT11_uc003wkw.1_5'Flank	NM_022087	NP_071370	Q8NCW6	GLT11_HUMAN	N-acetylgalactosaminyltransferase 11	198	Lumenal (Potential).|Catalytic subdomain A.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding				0	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.214)	OV - Ovarian serous cystadenocarcinoma(82;0.00168)	UCEC - Uterine corpus endometrioid carcinoma (81;0.177)|BRCA - Breast invasive adenocarcinoma(188;0.0932)		CAGATGATTTGAAAGGAGAAC	0.328		NaN											0	0	0	1	0	10	44				
MLL3	58508	broad.mit.edu	37	7	151859702	151859702	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr7:151859702G>A	uc003wla.2	-	43	11179	c.10960C>T	c.(10960-10962)CAA>TAA	p.Q3654*	MLL3_uc003wkz.2_Nonsense_Mutation_p.Q2715*|MLL3_uc003wky.2_Nonsense_Mutation_p.Q1163*	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 3	3654					intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	63	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		TCGGCTTGTTGAGGAAGCTCA	0.532		NaN	N		medulloblastoma								0	0	0	1	0	35	100		Valid		
NCAPG2	54892	broad.mit.edu	37	7	158456891	158456891	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr7:158456891C>T	uc003wnv.1	-	15	1945	c.1800G>A	c.(1798-1800)GAG>GAA	p.E600E	NCAPG2_uc010lqu.1_Silent_p.E392E|NCAPG2_uc003wnw.1_RNA|NCAPG2_uc003wnx.1_Silent_p.E600E|NCAPG2_uc011kwe.1_Silent_p.E600E|NCAPG2_uc011kwc.1_Silent_p.E101E|NCAPG2_uc011kwd.1_Silent_p.E101E	NM_017760	NP_060230	Q86XI2	CNDG2_HUMAN	leucine zipper protein 5	600					cell division|chromosome condensation|mitosis	nucleus	methylated histone residue binding			ovary(1)|breast(1)|kidney(1)	3	Ovarian(565;0.152)	all_cancers(7;3.44e-11)|all_epithelial(9;3.05e-05)|all_hematologic(28;0.014)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.187)|STAD - Stomach adenocarcinoma(7;0.18)		CATTCTCCTTCTCCCTTCCGT	0.512		NaN											0	0	0	1	0	11	82				
WDR60	55112	broad.mit.edu	37	7	158723187	158723187	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr7:158723187C>T	uc003woe.3	+	21	2685	c.2527C>T	c.(2527-2529)CTG>TTG	p.L843L	WDR60_uc010lqv.2_RNA|WDR60_uc010lqw.2_Silent_p.L475L	NM_018051	NP_060521	Q8WVS4	WDR60_HUMAN	WD repeat domain 60	843										ovary(2)|breast(1)|central_nervous_system(1)	4	Ovarian(565;0.152)	all_cancers(7;1.25e-09)|all_epithelial(9;0.000894)|all_hematologic(28;0.00603)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)|STAD - Stomach adenocarcinoma(7;0.18)		ACATAGTGCTCTGATCCAGTT	0.408		NaN											0	0	0	1	0	4	16				
CSMD1	64478	broad.mit.edu	37	8	4851876	4851876	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr8:4851876C>T	uc011kwk.1	-	1	453	c.63G>A	c.(61-63)GCG>GCA	p.A21A		NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1 precursor	21						integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TGAGGAGCCTCGCGCACAGCA	0.647		NaN											0	0	0	1	0	7	46				
SGK223	157285	broad.mit.edu	37	8	8175697	8175697	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr8:8175697C>T	uc003wsh.3	-	5	4188	c.4188G>A	c.(4186-4188)CTG>CTA	p.L1396L		NM_001080826	NP_001074295	Q86YV5	SG223_HUMAN	pragmin	1396							ATP binding|non-membrane spanning protein tyrosine kinase activity				0						GCAGGAGCTTCAGCGACTGTA	0.657		NaN											0	0	0	1	0	26	57				
SGK223	157285	broad.mit.edu	37	8	8176545	8176545	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr8:8176545C>T	uc003wsh.3	-	5	3340	c.3340G>A	c.(3340-3342)GAG>AAG	p.E1114K		NM_001080826	NP_001074295	Q86YV5	SG223_HUMAN	pragmin	1114	Protein kinase.						ATP binding|non-membrane spanning protein tyrosine kinase activity				0						TCGTACGCCTCGGGCTCCGCC	0.672		NaN											0	0	0	1	0	78	203				
MFHAS1	9258	broad.mit.edu	37	8	8750290	8750290	+	Silent	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr8:8750290G>C	uc003wsj.1	-	1	842	c.279C>G	c.(277-279)GTC>GTG	p.V93V		NM_004225	NP_004216	Q9Y4C4	MFHA1_HUMAN	malignant fibrous histiocytoma amplified	93	LRR 2.										0		Hepatocellular(245;0.217)		COAD - Colon adenocarcinoma(149;0.124)		TCCTGCGCAGGACCAGGACGC	0.721		NaN											0	0	0	1	0	5	14				
TNFRSF10A	8797	broad.mit.edu	37	8	23049437	23049437	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr8:23049437C>T	uc003xda.2	-	10	1242	c.1177G>A	c.(1177-1179)GAG>AAG	p.E393K		NM_003844	NP_003835	O00220	TR10A_HUMAN	tumor necrosis factor receptor superfamily,	393	Cytoplasmic (Potential).|Death.				activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors		caspase activator activity|death receptor activity|TRAIL binding|transcription factor binding			central_nervous_system(3)|ovary(2)|skin(1)	6		Prostate(55;0.0421)|Breast(100;0.14)		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)		ACATCGATCTCATTTTTCGTG	0.522		NaN											0	0	0	1	0	47	51				
TNFRSF10A	8797	broad.mit.edu	37	8	23049482	23049482	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr8:23049482C>T	uc003xda.2	-	10	1197	c.1132G>A	c.(1132-1134)GAC>AAC	p.D378N		NM_003844	NP_003835	O00220	TR10A_HUMAN	tumor necrosis factor receptor superfamily,	378	Cytoplasmic (Potential).|Death.				activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors		caspase activator activity|death receptor activity|TRAIL binding|transcription factor binding			central_nervous_system(3)|ovary(2)|skin(1)	6		Prostate(55;0.0421)|Breast(100;0.14)		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)		TCCCAGGAGTCAAAGGGCACG	0.527		NaN											0	0	0	1	0	19	60				
NEFM	4741	broad.mit.edu	37	8	24775109	24775109	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr8:24775109G>A	uc003xed.3	+	3	1774	c.1741G>A	c.(1741-1743)GAA>AAA	p.E581K	NEFM_uc011lac.1_Missense_Mutation_p.E581K|NEFM_uc010lue.2_Missense_Mutation_p.E205K	NM_005382	NP_005373	P07197	NFM_HUMAN	neurofilament, medium polypeptide 150kDa isoform	581	Tail.					neurofilament	protein binding|structural constituent of cytoskeleton			breast(1)	1		Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		agaggaagccgaagctaaaga	0.259		NaN											0	0	0	1	0	5	23				
NEFL	4747	broad.mit.edu	37	8	24811727	24811727	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr8:24811727C>G	uc003xee.2	-	2	1239	c.1137G>C	c.(1135-1137)AAG>AAC	p.K379N		NM_006158	NP_006149	P07196	NFL_HUMAN	neurofilament, light polypeptide 68kDa	379	Rod.|Coil 2B.				anterograde axon cargo transport|axon transport of mitochondrion|neurofilament bundle assembly|retrograde axon cargo transport|synaptic transmission	cytosol|neurofilament	identical protein binding|protein C-terminus binding|structural constituent of cytoskeleton			ovary(1)|central_nervous_system(1)	2		Ovarian(32;0.00965)|Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		CCAAAGCCATCTTCACGTTGA	0.393		NaN											0	0	0	1	0	36	139				
SCARA5	286133	broad.mit.edu	37	8	27729502	27729502	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr8:27729502C>T	uc003xgj.2	-	9	1877	c.1437G>A	c.(1435-1437)GTG>GTA	p.V479V	SCARA5_uc010luz.2_Silent_p.V254V	NM_173833	NP_776194	Q6ZMJ2	SCAR5_HUMAN	scavenger receptor class A, member 5	479	SRCR.|Extracellular (Potential).				cellular iron ion homeostasis|endocytosis|iron ion transmembrane transport|protein homotrimerization	integral to plasma membrane	ferritin receptor activity|scavenger receptor activity			central_nervous_system(1)|skin(1)	2		Ovarian(32;0.0218)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)|Colorectal(74;0.228)		CACAGTTTGTCACCCCCCATT	0.577		NaN											0	0	0	1	0	23	78				
INTS9	55756	broad.mit.edu	37	8	28671062	28671062	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr8:28671062C>G	uc003xha.2	-	7	855	c.556G>C	c.(556-558)GAG>CAG	p.E186Q	INTS9_uc011lav.1_Missense_Mutation_p.E162Q|INTS9_uc011law.1_Missense_Mutation_p.E165Q|INTS9_uc011lax.1_Missense_Mutation_p.E79Q|INTS9_uc010lvc.2_RNA|INTS9_uc003xhb.2_Missense_Mutation_p.E186Q	NM_018250	NP_060720	Q9NV88	INT9_HUMAN	integrator complex subunit 9 isoform 1	186					snRNA processing	integrator complex	protein binding			central_nervous_system(1)|pancreas(1)	2		Ovarian(32;0.0439)		KIRC - Kidney renal clear cell carcinoma(542;0.127)|Kidney(114;0.152)		GAGTTCACCTCTTGCATTGTA	0.413		NaN											0	0	0	1	0	34	101				
GSR	2936	broad.mit.edu	37	8	30560623	30560623	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr8:30560623C>T	uc003xih.1	-	5	718	c.627G>A	c.(625-627)GAG>GAA	p.E209E		NM_000637	NP_000628	P00390	GSHR_HUMAN	glutathione reductase precursor	209					cell redox homeostasis|nucleobase, nucleoside and nucleotide interconversion	cytosol|mitochondrion	electron carrier activity|glutathione-disulfide reductase activity			ovary(2)|pancreas(2)|central_nervous_system(1)	5				KIRC - Kidney renal clear cell carcinoma(542;0.105)|Kidney(114;0.125)	Carmustine(DB00262)|Glutathione(DB00143)|NADH(DB00157)	GGATCTGGCTCTCATGAGGGG	0.527		NaN											0	0	0	1	0	37	113				
PURG	29942	broad.mit.edu	37	8	30889344	30889344	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr8:30889344C>T	uc003xin.2	-	1	974	c.955G>A	c.(955-957)GAA>AAA	p.E319K	WRN_uc003xio.3_5'Flank|PURG_uc003xim.1_Intron	NM_013357	NP_037489	Q9UJV8	PURG_HUMAN	purine-rich element binding protein G isoform A	319						nucleus	DNA binding				0				KIRC - Kidney renal clear cell carcinoma(542;0.0895)|Kidney(114;0.108)		CTCATCTCTTCTTCATACTTG	0.403		NaN											0	0	0	1	0	4	3				
WRN	7486	broad.mit.edu	37	8	30969307	30969307	+	Silent	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr8:30969307C>G	uc003xio.3	+	19	3053	c.2265C>G	c.(2263-2265)GTC>GTG	p.V755V	WRN_uc010lvk.2_Silent_p.V222V	NM_000553	NP_000544	Q14191	WRN_HUMAN	Werner syndrome protein	755	Helicase C-terminal.				base-excision repair|cellular response to starvation|DNA recombination|DNA synthesis involved in DNA repair|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to oxidative stress|response to UV-C|telomere maintenance	centrosome|nucleolus|nucleoplasm	3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|four-way junction helicase activity|G-quadruplex DNA binding|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity|Y-form DNA binding			ovary(2)|kidney(2)|large_intestine(1)|lung(1)|skin(1)	7		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)		CATTTCTTGTCAAAACAAGGT	0.328		NaN	Mis|N|F|S			osteosarcoma|meningioma|others		Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents	Werner_syndrome				0	0	0	1	0	13	31				
WRN	7486	broad.mit.edu	37	8	31024573	31024573	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr8:31024573C>T	uc003xio.3	+	34	4806	c.4018C>T	c.(4018-4020)CCT>TCT	p.P1340S	WRN_uc010lvk.2_Missense_Mutation_p.P807S	NM_000553	NP_000544	Q14191	WRN_HUMAN	Werner syndrome protein	1340					base-excision repair|cellular response to starvation|DNA recombination|DNA synthesis involved in DNA repair|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to oxidative stress|response to UV-C|telomere maintenance	centrosome|nucleolus|nucleoplasm	3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|four-way junction helicase activity|G-quadruplex DNA binding|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity|Y-form DNA binding			ovary(2)|kidney(2)|large_intestine(1)|lung(1)|skin(1)	7		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)		AATGTTAGTTCCTGAAAACAT	0.343		NaN	Mis|N|F|S			osteosarcoma|meningioma|others		Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents	Werner_syndrome				0	0	0	1	0	18	35				
FUT10	84750	broad.mit.edu	37	8	33310999	33310999	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr8:33310999C>T	uc003xje.2	-	3	467	c.111G>A	c.(109-111)AGG>AGA	p.R37R	FUT10_uc003xjc.2_Silent_p.R44R|FUT10_uc003xjd.2_Silent_p.R9R|FUT10_uc011lbi.1_Silent_p.R87R|FUT10_uc003xjf.2_5'UTR|FUT10_uc003xjg.2_Silent_p.R9R|FUT10_uc003xjh.2_Silent_p.R37R|FUT10_uc003xji.1_Silent_p.R37R	NM_032664	NP_116053	Q6P4F1	FUT10_HUMAN	fucosyltransferase 10	37	Lumenal (Potential).				embryo development|fertilization|hemopoiesis|L-fucose catabolic process|nervous system development|protein folding|protein glycosylation|protein targeting|wound healing	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity			ovary(1)|pancreas(1)	2				KIRC - Kidney renal clear cell carcinoma(67;0.129)|Kidney(114;0.154)		TAAACTCCTTCCTTTCAAACT	0.363		NaN											0	0	0	1	0	19	70				
KCNU1	157855	broad.mit.edu	37	8	36698504	36698504	+	Silent	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr8:36698504C>G	uc010lvw.2	+	16	1773	c.1686C>G	c.(1684-1686)CTC>CTG	p.L562L	KCNU1_uc003xjw.2_RNA	NM_001031836	NP_001027006	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	562	Cytoplasmic (Potential).					voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity			ovary(1)	1				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		ACAAGTCCCTCTTTACGGATG	0.403		NaN											0	0	0	1	0	15	39				
FGFR1	2260	broad.mit.edu	37	8	38282030	38282030	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr8:38282030C>G	uc003xlp.2	-	7	1875	c.933G>C	c.(931-933)TTG>TTC	p.L311F	FGFR1_uc011lbo.1_Missense_Mutation_p.L309F|FGFR1_uc011lbp.1_Missense_Mutation_p.L222F|FGFR1_uc011lbq.1_Missense_Mutation_p.L220F|FGFR1_uc010lwk.2_Missense_Mutation_p.L303F|FGFR1_uc011lbr.1_RNA|FGFR1_uc011lbs.1_Missense_Mutation_p.L151F|FGFR1_uc011lbt.1_Missense_Mutation_p.L220F|FGFR1_uc011lbu.1_Missense_Mutation_p.L342F|FGFR1_uc011lbv.1_Missense_Mutation_p.L309F|FGFR1_uc011lbw.1_Missense_Mutation_p.L222F|FGFR1_uc011lbx.1_Missense_Mutation_p.L222F|FGFR1_uc003xlv.2_Missense_Mutation_p.L222F|FGFR1_uc003xlu.2_Missense_Mutation_p.L220F	NM_023110	NP_075598	P11362	FGFR1_HUMAN	fibroblast growth factor receptor 1 isoform 1	311	Ig-like C2-type 3.|Extracellular (Potential).				axon guidance|cell growth|insulin receptor signaling pathway|MAPKKK cascade|positive regulation of cell proliferation|skeletal system development	extracellular region|integral to plasma membrane|membrane fraction	ATP binding|fibroblast growth factor receptor activity|heparin binding|protein homodimerization activity			lung(5)|central_nervous_system(5)|stomach(2)|breast(2)|ovary(1)	15	all_cancers(2;9.05e-47)|all_epithelial(2;2.64e-50)|all_lung(3;1.71e-23)|Lung NSC(2;3.61e-23)|Colorectal(12;0.000442)	Breast(189;1.48e-05)|all_lung(54;0.00354)|Lung NSC(58;0.0138)|Hepatocellular(245;0.065)	Epithelial(3;3.96e-34)|all cancers(3;3.06e-30)|BRCA - Breast invasive adenocarcinoma(5;2.28e-21)|COAD - Colon adenocarcinoma(9;0.24)		Palifermin(DB00039)	TGATTACCTTCAAGATCTGGA	0.567		1	T	BCR|FOP|ZNF198|CEP1	MPD|NHL		Pfeiffer syndrome|Kallman syndrome						0	0	0	1	0	34	73				
ADAM18	8749	broad.mit.edu	37	8	39495221	39495221	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr8:39495221G>C	uc003xni.2	+	9	826	c.826G>C	c.(826-828)GTT>CTT	p.V276L	ADAM18_uc010lww.2_RNA|ADAM18_uc010lwx.2_Missense_Mutation_p.V252L	NM_014237	NP_055052	Q9Y3Q7	ADA18_HUMAN	a disintegrin and metalloprotease domain 18	276	Peptidase M12B.|Extracellular (Potential).				cell differentiation|multicellular organismal development|proteolysis|spermatogenesis	integral to membrane|membrane fraction	metalloendopeptidase activity|zinc ion binding			central_nervous_system(2)|upper_aerodigestive_tract(1)|ovary(1)|kidney(1)|skin(1)	6		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	LUSC - Lung squamous cell carcinoma(45;0.000199)			ATACTTACTTGTGTAAGCACA	0.353		NaN											0	0	0	1	0	10	18				
POTEA	340441	broad.mit.edu	37	8	43147757	43147757	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr8:43147757G>A	uc003xpz.1	+	1	173	c.130G>A	c.(130-132)GGT>AGT	p.G44S	POTEA_uc003xqa.1_Missense_Mutation_p.G44S	NM_001005365	NP_001005365	Q6S8J7	POTEA_HUMAN	POTE ankyrin domain family, member A isoform 2	44										ovary(1)	1						GAACAACATGGGTGCTTGGAG	0.602		NaN											0	0	0	1	0	41	113				
KIAA0146	23514	broad.mit.edu	37	8	48309060	48309060	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr8:48309060G>C	uc003xqd.2	+	6	659	c.650G>C	c.(649-651)AGA>ACA	p.R217T	KIAA0146_uc011lcz.1_Intron|KIAA0146_uc011lda.1_Intron|KIAA0146_uc011ldb.1_Missense_Mutation_p.R217T|KIAA0146_uc010lxs.2_5'UTR|KIAA0146_uc011ldc.1_Missense_Mutation_p.R147T|KIAA0146_uc011ldd.1_Missense_Mutation_p.R157T|KIAA0146_uc003xqe.2_Intron|KIAA0146_uc003xqf.2_RNA|KIAA0146_uc011lde.1_Intron	NM_001080394	NP_001073863	Q14159	K0146_HUMAN	hypothetical protein LOC23514	217											0		Lung NSC(58;0.175)				TCGGATGCAAGACAGATTATG	0.408		NaN											0	0	0	1	0	33	87				
KIAA0146	23514	broad.mit.edu	37	8	48641546	48641546	+	Silent	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr8:48641546C>G	uc003xqd.2	+	18	2496	c.2487C>G	c.(2485-2487)CTC>CTG	p.L829L	KIAA0146_uc011ldc.1_Silent_p.L759L|KIAA0146_uc011ldd.1_Silent_p.L769L|KIAA0146_uc003xqe.2_Silent_p.L304L|KIAA0146_uc003xqf.2_RNA|KIAA0146_uc010lxt.2_Intron|KIAA0146_uc011ldf.1_Silent_p.L334L|KIAA0146_uc011ldg.1_Silent_p.L319L|KIAA0146_uc003xqg.1_Intron	NM_001080394	NP_001073863	Q14159	K0146_HUMAN	hypothetical protein LOC23514	829											0		Lung NSC(58;0.175)				CTCCTGTTCTCAAGAGGCACC	0.592		NaN											0	0	0	1	0	15	78				
PCMTD1	115294	broad.mit.edu	37	8	52733177	52733177	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr8:52733177G>A	uc003xqx.3	-	6	1149	c.808C>T	c.(808-810)CAA>TAA	p.Q270*	PCMTD1_uc011ldm.1_Nonsense_Mutation_p.Q140*|PCMTD1_uc003xqw.3_Nonsense_Mutation_p.Q270*|PCMTD1_uc011ldn.1_Nonsense_Mutation_p.Q82*|PCMTD1_uc010lya.2_Nonsense_Mutation_p.Q194*	NM_052937	NP_443169	Q96MG8	PCMD1_HUMAN	protein-L-isoaspartate (D-aspartate)	270						cytoplasm	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity				0		Lung NSC(129;0.0795)|all_lung(136;0.144)				GGAGCCCTTTGAGGAATCCCC	0.423		NaN											0	0	0	1	0	9	143				
RB1CC1	9821	broad.mit.edu	37	8	53558413	53558413	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr8:53558413G>A	uc003xre.3	-	16	4394	c.3836C>T	c.(3835-3837)TCT>TTT	p.S1279F	RB1CC1_uc003xrf.3_Missense_Mutation_p.S1279F	NM_014781	NP_055596	Q8TDY2	RBCC1_HUMAN	Rb1-inducible coiled coil protein 1 isoform 1	1279	Potential.				autophagy|cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	protein binding			ovary(8)|upper_aerodigestive_tract(1)|large_intestine(1)|skin(1)	11		all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023)				TCCTCTGGTAGAGTCAATGGC	0.308		NaN											0	0	0	1	0	16	39				
RP1	6101	broad.mit.edu	37	8	55537354	55537354	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr8:55537354G>C	uc003xsd.1	+	4	1060	c.912G>C	c.(910-912)AAG>AAC	p.K304N	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	retinitis pigmentosa RP1 protein	304					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			skin(7)|ovary(4)|pancreas(1)	12		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			CCTTAGAAAAGAATGATTCTC	0.318		NaN											0	0	0	1	0	4	35				
RP1	6101	broad.mit.edu	37	8	55538471	55538471	+	Nonsense_Mutation	SNP	C	C	T	rs104894082		TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr8:55538471C>T	uc003xsd.1	+	4	2177	c.2029C>T	c.(2029-2031)CGA>TGA	p.R677*	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	retinitis pigmentosa RP1 protein	677					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			skin(7)|ovary(4)|pancreas(1)	12		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			GAAAAAATCTCGACAGCAAGC	0.323		NaN											0	0	0	1	0	9	25				
CHD7	55636	broad.mit.edu	37	8	61693580	61693580	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr8:61693580C>T	uc003xue.2	+	3	2164	c.1687C>T	c.(1687-1689)CTA>TTA	p.L563L		NM_017780	NP_060250	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	563	Pro-rich.				central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity	p.556_871dup(1)		ovary(4)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|pancreas(1)	9		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			GGAGCCCTTTCTAGAGAAACC	0.433		NaN											0	0	0	1	0	5	16				
CHD7	55636	broad.mit.edu	37	8	61773577	61773577	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08			G	C	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr8:61773577G>C	uc003xue.2	+	35	8200	c.7723G>C	c.(7723-7725)GAA>CAA	p.E2575Q		NM_017780	NP_060250	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	2575					central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity			ovary(4)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|pancreas(1)	9		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			TATCAATCTTGAAGATGGGAC	0.458		NaN											0	0	0	1	0	16	47		Valid		
VCPIP1	80124	broad.mit.edu	37	8	67576660	67576660	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr8:67576660C>T	uc003xwn.2	-	1	2793	c.2534G>A	c.(2533-2535)AGA>AAA	p.R845K		NM_025054	NP_079330	Q96JH7	VCIP1_HUMAN	valosin containing protein (p97)/p47 complex	845					protein ubiquitination	endoplasmic reticulum|Golgi stack	ubiquitin-specific protease activity			lung(2)|ovary(2)|central_nervous_system(1)|breast(1)|skin(1)|kidney(1)	8		Lung NSC(129;0.142)|all_lung(136;0.227)	Epithelial(68;0.000771)|OV - Ovarian serous cystadenocarcinoma(28;0.00248)|all cancers(69;0.00296)|BRCA - Breast invasive adenocarcinoma(89;0.149)			TATTGTAATTCTGTCGCCATG	0.428		NaN											0	0	0	1	0	20	61				
PREX2	80243	broad.mit.edu	37	8	69039652	69039652	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr8:69039652C>T	uc003xxv.1	+	31	3791	c.3764C>T	c.(3763-3765)TCA>TTA	p.S1255L		NM_024870	NP_079146	Q70Z35	PREX2_HUMAN	DEP domain containing 2 isoform a	1255					G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			skin(6)|large_intestine(4)|pancreas(3)|lung(2)|ovary(1)|kidney(1)	17						CTTGAATATTCAGGTAACATT	0.353		NaN											0	0	0	1	0	15	55				
KCNB2	9312	broad.mit.edu	37	8	73848659	73848659	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr8:73848659G>A	uc003xzb.2	+	3	1657	c.1069G>A	c.(1069-1071)GAG>AAG	p.E357K		NM_004770	NP_004761	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related	357					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)			ATTTTTTGCTGAGAAGGATGA	0.448		NaN											0	0	0	1	0	42	128				
ZFHX4	79776	broad.mit.edu	37	8	77775830	77775830	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr8:77775830G>A	uc003yav.2	+	11	10132	c.9745G>A	c.(9745-9747)GAG>AAG	p.E3249K		NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	zinc finger homeodomain 4	3245						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(8)|large_intestine(4)|breast(2)|lung(1)	15			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CTGTGGCATGGAGAGCCTCTT	0.443		NaN								HNSCC(33;0.089)			0	0	0	1	0	17	51				
SNX16	64089	broad.mit.edu	37	8	82714735	82714735	+	Splice_Site	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr8:82714735C>G	uc011lft.1	-	8	1326	c.819_splice	c.e8-1	p.R273_splice	SNX16_uc003ycn.2_Splice_Site_p.R273_splice|SNX16_uc003yco.2_Splice_Site_p.R244_splice	NM_022133	NP_071416	P57768	SNX16_HUMAN	sorting nexin 16 isoform a						cell communication|early endosome to late endosome transport|endosome to lysosome transport|protein targeting to lysosome	early endosome membrane|extrinsic to endosome membrane|late endosome membrane|lysosome	identical protein binding|phosphatidylinositol binding			ovary(1)|pancreas(1)	2						AGACAATGTTCTAAAAGTATG	0.368		NaN											0	0	0	1	0	5	21				
RUNX1T1	862	broad.mit.edu	37	8	92972658	92972658	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr8:92972658C>G	uc003yfd.2	-	11	1711	c.1627G>C	c.(1627-1629)GAC>CAC	p.D543H	RUNX1T1_uc003yfc.1_Missense_Mutation_p.D516H|RUNX1T1_uc003yfe.1_Missense_Mutation_p.D506H|RUNX1T1_uc010mao.2_Missense_Mutation_p.D516H|RUNX1T1_uc011lgi.1_Missense_Mutation_p.D554H|uc010mam.2_5'Flank|RUNX1T1_uc010man.1_Missense_Mutation_p.D168H|RUNX1T1_uc003yfb.1_Missense_Mutation_p.D506H	NM_175634	NP_783552	Q06455	MTG8_HUMAN	acute myelogenous leukemia 1 translocation 1	543	MYND-type.				generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			lung(9)|large_intestine(3)|breast(2)|central_nervous_system(1)|pancreas(1)	16			BRCA - Breast invasive adenocarcinoma(11;0.0141)			TTCTCCCAGTCTTTGTGCTGG	0.567		NaN											0	0	0	1	0	19	42				
TMEM67	91147	broad.mit.edu	37	8	94808168	94808168	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr8:94808168C>G	uc011lgk.1	+	18	1884	c.1813C>G	c.(1813-1815)CAG>GAG	p.Q605E	TMEM67_uc010maw.2_Missense_Mutation_p.Q311E|TMEM67_uc003yga.3_Missense_Mutation_p.Q524E|TMEM67_uc011lgl.1_Missense_Mutation_p.Q4E	NM_153704	NP_714915	Q5HYA8	MKS3_HUMAN	meckelin isoform 1	605					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)			AATGCCAATTCAGGAAGAACG	0.323		NaN											0	0	0	1	0	30	71				
KIAA1429	25962	broad.mit.edu	37	8	95527162	95527162	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr8:95527162C>A	uc003ygo.1	-	11	2699	c.2686G>T	c.(2686-2688)GAA>TAA	p.E896*	KIAA1429_uc003ygp.2_Nonsense_Mutation_p.E896*|KIAA1429_uc010maz.1_RNA	NM_015496	NP_056311	Q69YN4	VIR_HUMAN	hypothetical protein LOC25962 isoform 1	896					mRNA processing|RNA splicing	nucleus				ovary(1)|skin(1)	2	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			TTCAGAGGTTCAAGCCACTTG	0.259		NaN											1	0	0.0581538	1	0.0583952	10	14				
UBR5	51366	broad.mit.edu	37	8	103266703	103266703	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr8:103266703C>T	uc003ykr.1	-	59	8260	c.8227G>A	c.(8227-8229)GAA>AAA	p.E2743K	UBR5_uc003yks.1_Missense_Mutation_p.E2742K|UBR5_uc003ykq.2_Missense_Mutation_p.E254K	NM_015902	NP_056986	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin	2743	Pro-rich.|HECT.				cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding			lung(16)|ovary(4)|large_intestine(3)|breast(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)	28	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			AATCCTTCTTCACTGGCTGGC	0.418		NaN											0	0	0	1	0	15	46				
EXT1	2131	broad.mit.edu	37	8	118847773	118847773	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr8:118847773C>T	uc003yok.1	-	3	1847	c.1074G>A	c.(1072-1074)GTG>GTA	p.V358V		NM_000127	NP_000118	Q16394	EXT1_HUMAN	exostosin 1	358	Lumenal (Potential).				glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction|skeletal system development	Golgi membrane|integral to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity			ovary(2)|lung(2)	4	all_cancers(13;2.36e-26)|Lung NSC(37;5.02e-07)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.012)			TGCTGAGCATCACAGGGACGC	0.478		NaN	Mis|N|F|S			exostoses|osteosarcoma			Hereditary_Multiple_Exostoses|Langer-Giedion_syndrome				0	0	0	1	0	15	41				
COL14A1	7373	broad.mit.edu	37	8	121282363	121282363	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr8:121282363C>A	uc003yox.2	+	26	3428	c.3163C>A	c.(3163-3165)CTA>ATA	p.L1055I	COL14A1_uc003yoz.2_Missense_Mutation_p.L20I	NM_021110	NP_066933	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1 precursor	1055	VWFA 2.				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			ovary(4)|kidney(4)|skin(2)|pancreas(1)|central_nervous_system(1)	12	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			CATCAGCTTTCTATACAGCAC	0.383		NaN											1	0	3.59834e-05	1	3.66325e-05	6	36				
WDR67	93594	broad.mit.edu	37	8	124146406	124146406	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr8:124146406G>C	uc003ypp.1	+	17	2549	c.2459G>C	c.(2458-2460)AGA>ACA	p.R820T	WDR67_uc011lig.1_Intron|WDR67_uc011lih.1_Missense_Mutation_p.R710T|WDR67_uc003ypq.1_RNA|WDR67_uc003yps.1_Missense_Mutation_p.R454T|WDR67_uc003ypt.1_Missense_Mutation_p.R277T|WDR67_uc003ypu.1_Missense_Mutation_p.R277T	NM_145647	NP_663622	Q96DN5	WDR67_HUMAN	WD repeat domain 67 isoform 1	820	Potential.					centrosome	Rab GTPase activator activity			skin(1)	1	Lung NSC(37;7e-10)|Ovarian(258;0.0205)		STAD - Stomach adenocarcinoma(47;0.00527)			CTAGAAATGAGACAGCTGGAA	0.313		NaN											0	0	0	1	0	27	69				
FER1L6	654463	broad.mit.edu	37	8	124968267	124968267	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr8:124968267G>C	uc003yqw.2	+	2	235	c.29G>C	c.(28-30)AGA>ACA	p.R10T		NM_001039112	NP_001034201	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6	10	Cytoplasmic (Potential).					integral to membrane				ovary(5)|skin(5)|central_nervous_system(1)	11	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			AAGAAGAAGAGAAATAAGGCA	0.463		NaN											0	0	0	1	0	9	23				
NDUFB9	4715	broad.mit.edu	37	8	125555327	125555327	+	Splice_Site	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr8:125555327G>C	uc003yrg.3	+	2	187	c.102_splice	c.e2-1	p.R34_splice	NDUFB9_uc011lim.1_Splice_Site_p.R34_splice	NM_005005	NP_004996	Q9Y6M9	NDUB9_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta						mitochondrial electron transport, NADH to ubiquinone|sensory perception of sound|transport	mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity			ovary(1)|skin(1)	2	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)		NADH(DB00157)	TTTGGTTTAAGAGACAAATAC	0.453		NaN											0	0	0	1	0	14	63				
NDUFB9	4715	broad.mit.edu	37	8	125555347	125555347	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr8:125555347G>C	uc003yrg.3	+	2	206	c.121G>C	c.(121-123)GCT>CCT	p.A41P	NDUFB9_uc011lim.1_Missense_Mutation_p.A41P	NM_005005	NP_004996	Q9Y6M9	NDUB9_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta	41					mitochondrial electron transport, NADH to ubiquinone|sensory perception of sound|transport	mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity			ovary(1)|skin(1)	2	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)		NADH(DB00157)	CCGATACTTTGCTTGTTTGAT	0.448		NaN											0	0	0	1	0	15	67				
KIAA0196	9897	broad.mit.edu	37	8	126036882	126036882	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr8:126036882C>T	uc003yrt.2	-	29	3786	c.3457G>A	c.(3457-3459)GAT>AAT	p.D1153N	KIAA0196_uc011lir.1_Missense_Mutation_p.D1005N	NM_014846	NP_055661	Q12768	STRUM_HUMAN	strumpellin	1153					cell death	WASH complex				ovary(2)	2	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)			CTGAACTCATCAAAAATGAAA	0.318		NaN											0	0	0	1	0	10	39				
ASAP1	50807	broad.mit.edu	37	8	131073251	131073251	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr8:131073251C>T	uc003yta.1	-	27	2794	c.2766G>A	c.(2764-2766)CAG>CAA	p.Q922Q	ASAP1_uc003ysz.1_Silent_p.Q733Q|ASAP1_uc011liw.1_Silent_p.Q915Q	NM_018482	NP_060952	Q9ULH1	ASAP1_HUMAN	development and differentiation enhancing factor	922	Pro-rich.				cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction	cytoplasm|membrane	ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding			ovary(4)	4						GTGATGATTTCTGAAAGATTT	0.512		NaN											0	0	0	1	0	42	145				
ADCY8	114	broad.mit.edu	37	8	132052131	132052131	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr8:132052131C>T	uc003ytd.3	-	1	705	c.449G>A	c.(448-450)CGA>CAA	p.R150Q	ADCY8_uc010mds.2_Missense_Mutation_p.R150Q	NM_001115	NP_001106	P40145	ADCY8_HUMAN	adenylate cyclase 8	150	Cytoplasmic (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			skin(4)|large_intestine(1)|central_nervous_system(1)	6	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			AATGACCCCTCGGTAGCTATA	0.577		NaN								HNSCC(32;0.087)			0	0	0	1	0	17	29				
TMEM71	137835	broad.mit.edu	37	8	133740098	133740098	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr8:133740098G>A	uc003ytp.2	-	6	848	c.619C>T	c.(619-621)CAG>TAG	p.Q207*	TMEM71_uc003ytm.1_Nonsense_Mutation_p.Q29*|TMEM71_uc003ytn.2_Nonsense_Mutation_p.Q189*|TMEM71_uc003yto.2_Intron	NM_144649	NP_653250	Q6P5X7	TMM71_HUMAN	transmembrane protein 71 isoform 1	208						integral to membrane				ovary(2)	2	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;4.46e-05)			AACTGGGACTGAAGAGACAAG	0.463		NaN											0	0	0	1	0	38	112				
EIF2C2	27161	broad.mit.edu	37	8	141568637	141568637	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr8:141568637C>T	uc003yvn.2	-	7	865	c.825G>A	c.(823-825)ATG>ATA	p.M275I	EIF2C2_uc010men.2_Missense_Mutation_p.M198I|EIF2C2_uc010meo.2_Missense_Mutation_p.M275I	NM_012154	NP_036286	Q9UKV8	AGO2_HUMAN	argonaute 2 isoform 1	275	PAZ.				mRNA cleavage involved in gene silencing by miRNA|negative regulation of translation involved in gene silencing by miRNA|negative regulation of translational initiation|pre-miRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|micro-ribonucleoprotein complex|mRNA cap binding complex|nucleus|polysome|RNA-induced silencing complex	endoribonuclease activity, cleaving siRNA-paired mRNA|metal ion binding|protein binding|RNA 7-methylguanosine cap binding|siRNA binding|translation initiation factor activity				0	all_cancers(97;2.54e-14)|all_epithelial(106;5.99e-13)|Lung NSC(106;1.45e-05)|all_lung(105;2.07e-05)|Ovarian(258;0.0154)|Acute lymphoblastic leukemia(118;0.155)	Breast(495;0.159)	BRCA - Breast invasive adenocarcinoma(115;0.158)			ACTTCCTCTTCATCTGCCCAC	0.612		NaN											0	0	0	1	0	30	108				
TSNARE1	203062	broad.mit.edu	37	8	143396400	143396400	+	Silent	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr8:143396400G>C	uc003ywk.2	-	8	1156	c.1038C>G	c.(1036-1038)CTC>CTG	p.L346L	TSNARE1_uc011lju.1_Silent_p.L345L|TSNARE1_uc003ywj.2_Silent_p.L346L|TSNARE1_uc003ywl.3_Silent_p.L126L	NM_145003	NP_659440	Q96NA8	TSNA1_HUMAN	t-SNARE domain containing 1	346					vesicle-mediated transport	integral to membrane					0	all_cancers(97;7.39e-11)|all_epithelial(106;8.98e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000332)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					TGGCATCTGAGAGCTGGGTTT	0.652		NaN											0	0	0	1	0	21	103				
TIGD5	84948	broad.mit.edu	37	8	144681737	144681737	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr8:144681737C>T	uc003yyx.1	+	1	1517	c.1517C>T	c.(1516-1518)CCT>CTT	p.P506L	EEF1D_uc011lki.1_5'Flank|EEF1D_uc011lkj.1_5'Flank|EEF1D_uc003yyr.2_5'Flank|EEF1D_uc003yyt.2_5'Flank|EEF1D_uc011lkk.1_5'Flank|EEF1D_uc003yys.2_5'Flank|EEF1D_uc003yyv.2_5'Flank|EEF1D_uc003yyu.2_5'Flank|EEF1D_uc011lkl.1_5'Flank	NM_032862	NP_116251	Q53EQ6	TIGD5_HUMAN	tigger transposable element derived 5	555					regulation of transcription, DNA-dependent	chromosome, centromeric region	DNA binding				0	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)			GCCCTGCCCCCTGCAGCGCCT	0.716		NaN											0	0	0	1	0	3	11				
PLEC	5339	broad.mit.edu	37	8	145003979	145003979	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr8:145003979C>G	uc003zaf.1	-	23	3339	c.3169G>C	c.(3169-3171)GAG>CAG	p.E1057Q	PLEC_uc003zab.1_Missense_Mutation_p.E920Q|PLEC_uc003zac.1_Missense_Mutation_p.E924Q|PLEC_uc003zad.2_Missense_Mutation_p.E920Q|PLEC_uc003zae.1_Missense_Mutation_p.E888Q|PLEC_uc003zag.1_Missense_Mutation_p.E898Q|PLEC_uc003zah.2_Missense_Mutation_p.E906Q|PLEC_uc003zaj.2_Missense_Mutation_p.E947Q	NM_201380	NP_958782	Q15149	PLEC_HUMAN	plectin isoform 1	1057	Globular 1.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle			large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9						CGCTGCTCCTCTGGCTTCAGG	0.706		NaN											0	0	0	1	0	9	23				
PLEC	5339	broad.mit.edu	37	8	145004382	145004382	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr8:145004382C>A	uc003zaf.1	-	21	3123	c.2953G>T	c.(2953-2955)GAG>TAG	p.E985*	PLEC_uc003zab.1_Nonsense_Mutation_p.E848*|PLEC_uc003zac.1_Nonsense_Mutation_p.E852*|PLEC_uc003zad.2_Nonsense_Mutation_p.E848*|PLEC_uc003zae.1_Nonsense_Mutation_p.E816*|PLEC_uc003zag.1_Nonsense_Mutation_p.E826*|PLEC_uc003zah.2_Nonsense_Mutation_p.E834*|PLEC_uc003zaj.2_Nonsense_Mutation_p.E875*	NM_201380	NP_958782	Q15149	PLEC_HUMAN	plectin isoform 1	985	Globular 1.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle			large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9						ACGGCGGCCTCGCTGCCGGAG	0.716		NaN											1	0	0.184627	1	0.184846	5	13				
GRINA	2907	broad.mit.edu	37	8	145066917	145066917	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr8:145066917G>A	uc003zan.1	+	7	1190	c.1024G>A	c.(1024-1026)GAA>AAA	p.E342K	GRINA_uc003zao.1_Missense_Mutation_p.E342K|GRINA_uc003zap.1_Missense_Mutation_p.E342K	NM_001009184	NP_001009184	Q7Z429	GRINA_HUMAN	glutamate receptor, ionotropic, N-methyl	342						integral to membrane				central_nervous_system(1)	1	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.31e-40)|Epithelial(56;1.16e-39)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CCTGAGCCCAGAAGAGTATGT	0.562		NaN											0	0	0	1	0	11	45				
MFSD3	113655	broad.mit.edu	37	8	145736434	145736434	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr8:145736434C>T	uc003zdi.1	+	5	1291	c.1126C>T	c.(1126-1128)CTG>TTG	p.L376L		NM_138431	NP_612440	Q96ES6	MFSD3_HUMAN	major facilitator superfamily domain containing	376	Leu-rich.|Helical; (Potential).				transmembrane transport	integral to membrane				central_nervous_system(2)	2	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)			GCTGGGCACTCTGGCCGGAGG	0.647		NaN											0	0	0	1	0	47	151				
DMRT3	58524	broad.mit.edu	37	9	990886	990886	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr9:990886C>T	uc003zgw.1	+	2	1338	c.1300C>T	c.(1300-1302)CGG>TGG	p.R434W		NM_021240	NP_067063	Q9NQL9	DMRT3_HUMAN	doublesex and mab-3 related transcription factor	434					cell differentiation|multicellular organismal development|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			ovary(2)|central_nervous_system(1)	3		all_lung(10;1.39e-08)|Lung NSC(10;1.42e-08)		Lung(218;0.0196)		GGAAGACCCTCGGATTTCCAT	0.542		NaN											0	0	0	1	0	27	100				
SMARCA2	6595	broad.mit.edu	37	9	2056767	2056767	+	Silent	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr9:2056767G>C	uc003zhc.2	+	7	1368	c.1269G>C	c.(1267-1269)CTG>CTC	p.L423L	SMARCA2_uc003zhd.2_Silent_p.L423L|SMARCA2_uc010mha.2_Silent_p.L414L	NM_003070	NP_003061	P51531	SMCA2_HUMAN	SWI/SNF-related matrix-associated	423					chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development	intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex	ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding			ovary(2)|central_nervous_system(1)	3		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		GCCAGACTCTGAGAGAAGCTC	0.572		NaN											0	0	0	1	0	15	29				
KIAA0020	9933	broad.mit.edu	37	9	2837350	2837350	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr9:2837350C>T	uc003zhp.1	-	3	230	c.134G>A	c.(133-135)GGA>GAA	p.G45E	KIAA0020_uc010mhc.1_Missense_Mutation_p.G44E|KIAA0020_uc003zhq.1_Missense_Mutation_p.G45E	NM_014878	NP_055693	Q15397	K0020_HUMAN	KIAA0020 protein	45						endoplasmic reticulum|nucleolus	RNA binding			ovary(1)	1				GBM - Glioblastoma multiforme(50;0.0319)		GACTTTAGGTCCACCTTCTTT	0.373		NaN											0	0	0	1	0	17	79				
JAK2	3717	broad.mit.edu	37	9	5022040	5022040	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr9:5022040C>G	uc010mhm.2	+	2	166	c.53C>G	c.(52-54)TCT>TGT	p.S18C	JAK2_uc003ziw.2_Missense_Mutation_p.S18C	NM_004972	NP_004963	O60674	JAK2_HUMAN	Janus kinase 2	18	Interaction with cytokine/interferon/growth hormone receptors (By similarity).				actin filament polymerization|activation of caspase activity by protein phosphorylation|activation of JAK2 kinase activity|blood coagulation|cellular component movement|erythrocyte differentiation|interferon-gamma-mediated signaling pathway|interleukin-12-mediated signaling pathway|JAK-STAT cascade involved in growth hormone signaling pathway|mammary gland epithelium development|mesoderm development|negative regulation of cell proliferation|negative regulation of DNA binding|positive regulation of apoptosis|positive regulation of cell-substrate adhesion|positive regulation of growth hormone receptor signaling pathway|positive regulation of nitric-oxide synthase 2 biosynthetic process|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|protein autophosphorylation|regulation of inflammatory response|regulation of interferon-gamma-mediated signaling pathway|response to antibiotic|response to lipopolysaccharide|STAT protein import into nucleus|tumor necrosis factor-mediated signaling pathway|tyrosine phosphorylation of STAT protein	caveola|cytoskeleton|cytosol|endomembrane system|nucleus	ATP binding|growth hormone receptor binding|heme binding|histone binding|histone kinase activity (H3-Y41 specific)|interleukin-12 receptor binding|non-membrane spanning protein tyrosine kinase activity|protein kinase binding|SH2 domain binding		PCM1/JAK2(30)|PAX5/JAK2(18)|ETV6/JAK2(11)|BCR/JAK2(6)|SSBP2/JAK2(4)|SEC31A/JAK2(4)	haematopoietic_and_lymphoid_tissue(28629)|lung(5)|breast(5)|ovary(1)|liver(1)	28641	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0198)|Breast(48;0.147)		GBM - Glioblastoma multiforme(50;0.0237)|Lung(218;0.133)		TCCACCTCTTCTATATATCAG	0.393		1	T|Mis|O	ETV6|PCM1|BCR	ALL|AML|MPD| CML				Polycythemia_Vera_Familial				0	0	0	1	0	24	77				
KIAA1432	57589	broad.mit.edu	37	9	5765728	5765728	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr9:5765728G>A	uc003zji.2	+	20	2923	c.2830G>A	c.(2830-2832)GAA>AAA	p.E944K	KIAA1432_uc003zjh.2_Missense_Mutation_p.E944K|KIAA1432_uc003zjl.3_Missense_Mutation_p.E907K|KIAA1432_uc003zjj.1_Missense_Mutation_p.E486K|ERMP1_uc011lme.1_RNA	NM_020829	NP_065880	Q4ADV7	RIC1_HUMAN	connexin 43-interacting protein 150 isoform a	1023						integral to membrane					0		Acute lymphoblastic leukemia(23;0.154)		GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122)		CCAGTCAGCTGAAAATGTTCC	0.398		NaN											0	0	0	1	0	10	126				
PTPRD	5789	broad.mit.edu	37	9	8484270	8484270	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr9:8484270G>A	uc003zkk.2	-	29	3973	c.3262C>T	c.(3262-3264)CGT>TGT	p.R1088C	PTPRD_uc003zkp.2_Missense_Mutation_p.R677C|PTPRD_uc003zkq.2_Missense_Mutation_p.R677C|PTPRD_uc003zkr.2_Missense_Mutation_p.R672C|PTPRD_uc003zks.2_Missense_Mutation_p.R667C|PTPRD_uc003zkl.2_Missense_Mutation_p.R1079C|PTPRD_uc003zkm.2_Missense_Mutation_p.R1075C|PTPRD_uc003zkn.2_Missense_Mutation_p.R677C|PTPRD_uc003zko.2_Missense_Mutation_p.R674C	NM_002839	NP_002830	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1088	Fibronectin type-III 8.|Extracellular (Potential).				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			lung(14)|large_intestine(3)|ovary(2)|breast(2)|urinary_tract(1)	22		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		CTGTTTCCACGATTTGTCAGC	0.478		NaN								TSP Lung(15;0.13)			0	0	0	1	0	20	65				
BNC2	54796	broad.mit.edu	37	9	16436824	16436824	+	Silent	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr9:16436824G>C	uc003zml.2	-	6	1508	c.1368C>G	c.(1366-1368)CTC>CTG	p.L456L	BNC2_uc011lmw.1_Silent_p.L361L|BNC2_uc003zmm.2_Silent_p.L414L|BNC2_uc003zmq.1_Silent_p.L470L|BNC2_uc003zmr.1_Silent_p.L493L|BNC2_uc003zmp.1_Silent_p.L484L|BNC2_uc010mij.1_Silent_p.L378L|BNC2_uc011lmv.1_Silent_p.L282L|BNC2_uc003zmo.1_Silent_p.L378L|BNC2_uc003zmj.2_Silent_p.L221L|BNC2_uc003zmk.2_RNA|BNC2_uc003zmi.2_Silent_p.L221L|BNC2_uc003zmn.1_Silent_p.L221L	NM_017637	NP_060107	Q6ZN30	BNC2_HUMAN	basonuclin 2	456	C2H2-type 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	zinc ion binding			ovary(2)|central_nervous_system(1)	3				GBM - Glioblastoma multiforme(50;9.01e-08)		AATGAATTTTGAGAGTACCTT	0.448		NaN											0	0	0	1	0	26	68				
CNTLN	54875	broad.mit.edu	37	9	17464510	17464510	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr9:17464510G>A	uc003zmz.2	+	21	3443	c.3417G>A	c.(3415-3417)GAG>GAA	p.E1139E	CNTLN_uc003zmy.2_Silent_p.E1140E|CNTLN_uc010mio.2_Silent_p.E819E	NM_017738	NP_060208	Q9NXG0	CNTLN_HUMAN	centlein isoform 1	1140	Potential.					centriole|membrane	two-component sensor activity			pancreas(1)	1				GBM - Glioblastoma multiforme(50;6.14e-10)		CTCGAATGGAGAGGGATATAA	0.303		NaN											0	0	0	1	0	16	34				
DENND4C	55667	broad.mit.edu	37	9	19345995	19345995	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr9:19345995G>C	uc003znq.2	+	18	2406	c.2373G>C	c.(2371-2373)AAG>AAC	p.K791N	DENND4C_uc011lnc.1_Missense_Mutation_p.K121N|DENND4C_uc011lnd.1_Missense_Mutation_p.K79N|DENND4C_uc003znr.2_Missense_Mutation_p.K79N|DENND4C_uc003zns.2_5'UTR|DENND4C_uc003znt.2_5'UTR	NM_017925	NP_060395	Q5VZ89	DEN4C_HUMAN	DENN/MADD domain containing 4C	791						integral to membrane				ovary(1)|skin(1)	2						CTAATCTCAAGAAGAATGGTG	0.358		NaN											0	0	0	1	0	19	65				
DENND4C	55667	broad.mit.edu	37	9	19346457	19346457	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr9:19346457G>C	uc003znq.2	+	18	2868	c.2835G>C	c.(2833-2835)AAG>AAC	p.K945N	DENND4C_uc011lnc.1_Missense_Mutation_p.K275N|DENND4C_uc011lnd.1_Missense_Mutation_p.K233N|DENND4C_uc003znr.2_Missense_Mutation_p.K233N|DENND4C_uc003zns.2_Missense_Mutation_p.K127N|DENND4C_uc003znt.2_Missense_Mutation_p.K127N	NM_017925	NP_060395	Q5VZ89	DEN4C_HUMAN	DENN/MADD domain containing 4C	945						integral to membrane				ovary(1)|skin(1)	2						TGAGGAATAAGAGAAGTAGTT	0.378		NaN											0	0	0	1	0	12	70				
RPS6	6194	broad.mit.edu	37	9	19376564	19376564	+	Silent	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr9:19376564C>G	uc003znv.1	-	5	624	c.582G>C	c.(580-582)CTG>CTC	p.L194L	RPS6_uc003znu.1_Silent_p.L163L	NM_001010	NP_001001	P62753	RS6_HUMAN	ribosomal protein S6	194					endocrine pancreas development|glucose homeostasis|insulin receptor signaling pathway|positive regulation of apoptosis|rRNA processing|TOR signaling cascade|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit|nucleolus	protein binding			ovary(1)	1		Colorectal(97;3.46e-05)|Myeloproliferative disorder(762;0.0255)		Lung(42;0.161)|LUSC - Lung squamous cell carcinoma(42;0.234)		GCTGCTTCTTCAGAGCAATAC	0.448		NaN											0	0	0	1	0	26	105				
SLC24A2	25769	broad.mit.edu	37	9	19786586	19786586	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr9:19786586C>G	uc003zoa.1	-	1	341	c.279G>C	c.(277-279)AAG>AAC	p.K93N	SLC24A2_uc003zob.1_Missense_Mutation_p.K93N	NM_020344	NP_065077	Q9UI40	NCKX2_HUMAN	solute carrier family 24	93	Extracellular (Potential).				visual perception	integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			ovary(3)	3				GBM - Glioblastoma multiforme(1;1.67e-55)|Lung(42;0.0443)		AATCCAGAATCTTGTCATTTA	0.473		NaN											0	0	0	1	0	18	86				
TMEM215	401498	broad.mit.edu	37	9	32784684	32784684	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr9:32784684C>T	uc003zri.3	+	2	868	c.503C>T	c.(502-504)TCG>TTG	p.S168L		NM_212558	NP_997723	Q68D42	TM215_HUMAN	transmembrane protein 215	168						integral to membrane					0						TACTGCCCCTCGGGCAGTTCC	0.587		NaN											0	0	0	1	0	22	44				
DNAI1	27019	broad.mit.edu	37	9	34489432	34489432	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr9:34489432G>C	uc003zum.2	+	5	566	c.373G>C	c.(373-375)GAT>CAT	p.D125H		NM_012144	NP_036276	Q9UI46	DNAI1_HUMAN	dynein, axonemal, intermediate chain 1	125					cell projection organization	cilium axoneme|cytoplasm|dynein complex|microtubule	motor activity				0	all_epithelial(49;0.244)		LUSC - Lung squamous cell carcinoma(29;0.0107)|STAD - Stomach adenocarcinoma(86;0.212)	GBM - Glioblastoma multiforme(74;0.0222)		GCATTACCGCGATGAATTAGT	0.527		NaN							Kartagener_syndrome				0	0	0	1	0	19	83				
POLR1E	64425	broad.mit.edu	37	9	37498107	37498107	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr9:37498107G>A	uc003zzz.1	+	8	1246	c.958G>A	c.(958-960)GAA>AAA	p.E320K	POLR1E_uc003zzy.1_Missense_Mutation_p.E258K|POLR1E_uc011lqk.1_Missense_Mutation_p.E187K	NM_022490	NP_071935	Q9GZS1	RPA49_HUMAN	RNA polymerase I associated factor 53	320					rRNA transcription	cell junction|cytoplasm|nucleolus	DNA binding|DNA-directed RNA polymerase activity|protein binding				0				GBM - Glioblastoma multiforme(29;0.00851)|Lung(182;0.229)		CTTTGTCATAGAAGCGTTGAA	0.483		NaN											0	0	0	1	0	27	54				
C9orf71	169693	broad.mit.edu	37	9	71155605	71155605	+	Silent	SNP	C	C	T	rs147451213		TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr9:71155605C>T	uc004agt.2	-	1	179	c.126G>A	c.(124-126)GCG>GCA	p.A42A		NM_153237	NP_694969	Q8N6L7	CI071_HUMAN	hypothetical protein LOC169693	42	Helical; (Potential).					integral to membrane					0						GCAAATAGGCCGCAATCAGGC	0.532		NaN											0	0	0	1	0	4	46				
TJP2	9414	broad.mit.edu	37	9	71851902	71851902	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr9:71851902G>C	uc004ahe.2	+	14	2229	c.2029G>C	c.(2029-2031)GAC>CAC	p.D677H	TJP2_uc011lrs.1_Missense_Mutation_p.D654H|TJP2_uc011lrt.1_Missense_Mutation_p.D654H|TJP2_uc004ahd.2_Missense_Mutation_p.D677H|TJP2_uc004ahf.2_Missense_Mutation_p.D677H|TJP2_uc011lru.1_Missense_Mutation_p.D681H|TJP2_uc011lrv.1_Missense_Mutation_p.D699H	NM_004817	NP_004808	Q9UDY2	ZO2_HUMAN	tight junction protein 2 (zona occludens 2)	677					cellular component disassembly involved in apoptosis	adherens junction|cytoplasm|nucleus|tight junction	guanylate kinase activity|protein binding				0						TGCCCAGAGAGACAACGCTGG	0.498		NaN											0	0	0	1	0	44	175				
TJP2	9414	broad.mit.edu	37	9	71851923	71851923	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr9:71851923G>A	uc004ahe.2	+	14	2250	c.2050G>A	c.(2050-2052)GAT>AAT	p.D684N	TJP2_uc011lrs.1_Missense_Mutation_p.D661N|TJP2_uc011lrt.1_Missense_Mutation_p.D661N|TJP2_uc004ahd.2_Missense_Mutation_p.D684N|TJP2_uc004ahf.2_Missense_Mutation_p.D684N|TJP2_uc011lru.1_Missense_Mutation_p.D688N|TJP2_uc011lrv.1_Missense_Mutation_p.D706N	NM_004817	NP_004808	Q9UDY2	ZO2_HUMAN	tight junction protein 2 (zona occludens 2)	684	Guanylate kinase-like.				cellular component disassembly involved in apoptosis	adherens junction|cytoplasm|nucleus|tight junction	guanylate kinase activity|protein binding				0						GGACCGGGCAGATTTCTGGAG	0.512		NaN											0	0	0	1	0	41	173				
TJP2	9414	broad.mit.edu	37	9	71852031	71852031	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr9:71852031G>C	uc004ahe.2	+	14	2358	c.2158G>C	c.(2158-2160)GAG>CAG	p.E720Q	TJP2_uc011lrs.1_Missense_Mutation_p.E697Q|TJP2_uc011lrt.1_Missense_Mutation_p.E697Q|TJP2_uc004ahd.2_Missense_Mutation_p.E720Q|TJP2_uc004ahf.2_Missense_Mutation_p.E720Q|TJP2_uc011lru.1_Missense_Mutation_p.E724Q|TJP2_uc011lrv.1_Missense_Mutation_p.E742Q	NM_004817	NP_004808	Q9UDY2	ZO2_HUMAN	tight junction protein 2 (zona occludens 2)	720	Guanylate kinase-like.				cellular component disassembly involved in apoptosis	adherens junction|cytoplasm|nucleus|tight junction	guanylate kinase activity|protein binding				0						CCCAGCTTATGAGAGGGTTTT	0.517		NaN											0	0	0	1	0	24	112				
GDA	9615	broad.mit.edu	37	9	74764516	74764516	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr9:74764516G>T	uc004aiq.2	+	1	224	c.41G>T	c.(40-42)CGA>CTA	p.R14L	GDA_uc011lse.1_Intron|GDA_uc011lsf.1_5'UTR|GDA_uc004air.2_Missense_Mutation_p.R14L|GDA_uc010mow.1_RNA|GDA_uc004ais.2_5'UTR	NM_004293	NP_004284	Q9Y2T3	GUAD_HUMAN	guanine deaminase	14					nervous system development|purine base metabolic process|purine nucleotide catabolic process	cytosol	guanine deaminase activity|zinc ion binding			ovary(2)|central_nervous_system(2)|skin(1)	5		Myeloproliferative disorder(762;0.0122)		Lung(182;0.0583)		CACATCTTCCGAGGGACGTTC	0.701		NaN											1	0	1.33834e-09	1	1.3952e-09	18	29				
TRPM6	140803	broad.mit.edu	37	9	77416817	77416817	+	Nonsense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr9:77416817G>C	uc004ajl.1	-	16	2244	c.2006C>G	c.(2005-2007)TCA>TGA	p.S669*	TRPM6_uc004ajk.1_Nonsense_Mutation_p.S664*|TRPM6_uc010mpb.1_RNA|TRPM6_uc010mpc.1_Intron|TRPM6_uc010mpd.1_Intron|TRPM6_uc010mpe.1_Intron|TRPM6_uc004ajm.1_Nonsense_Mutation_p.S47*	NM_017662	NP_060132	Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel,	669	Cytoplasmic (Potential).				response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			lung(3)|stomach(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1)	8						CACTTACTTTGAGTAATTCTT	0.408		NaN											0	0	0	1	0	18	66				
KIF27	55582	broad.mit.edu	37	9	86474218	86474218	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr9:86474218C>G	uc004ana.2	-	14	3147	c.3003G>C	c.(3001-3003)AAG>AAC	p.K1001N	KIF27_uc010mpw.2_Missense_Mutation_p.K935N|KIF27_uc010mpx.2_Missense_Mutation_p.K904N	NM_017576	NP_060046	Q86VH2	KIF27_HUMAN	kinesin family member 27	1001	Potential.				cilium assembly|microtubule-based movement	cilium|cytoplasm|microtubule	ATP binding|microtubule motor activity			lung(4)|skin(1)	5						GCTGCACATTCTTTTCAGACA	0.423		NaN											0	0	0	1	0	19	79				
AGTPBP1	23287	broad.mit.edu	37	9	88247959	88247959	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr9:88247959G>A	uc011ltd.1	-	13	1666	c.1633C>T	c.(1633-1635)CAA>TAA	p.Q545*	AGTPBP1_uc004aod.3_Nonsense_Mutation_p.Q171*|AGTPBP1_uc011ltc.1_Nonsense_Mutation_p.Q443*|AGTPBP1_uc010mqc.2_Nonsense_Mutation_p.Q505*|AGTPBP1_uc011lte.1_Nonsense_Mutation_p.Q557*	NM_015239	NP_056054	Q9UPW5	CBPC1_HUMAN	ATP/GTP binding protein 1	545					C-terminal protein deglutamylation|cerebellar Purkinje cell differentiation|eye photoreceptor cell differentiation|mitochondrion organization|neuromuscular process|olfactory bulb development|protein side chain deglutamylation|proteolysis	cytosol|mitochondrion|nucleus	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			ovary(4)|large_intestine(2)|skin(1)	7						GGGGCTGTTTGAGAAGGAATA	0.423		NaN											0	0	0	1	0	15	56				
C9orf79	286234	broad.mit.edu	37	9	90497818	90497818	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr9:90497818C>T	uc004app.3	+	1	47	c.12C>T	c.(10-12)CTC>CTT	p.L4L	C9orf79_uc004apo.1_Silent_p.L4L	NM_178828	NP_849150	Q6ZUB1	CI079_HUMAN	chromosome 9 open reading frame 79	4						integral to membrane				ovary(3)	3						TGGGAAATCTCGTCATCCCTC	0.607		NaN											0	0	0	1	0	17	39				
SPTLC1	10558	broad.mit.edu	37	9	94809914	94809914	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr9:94809914G>C	uc004arl.1	-	10	1003	c.965C>G	c.(964-966)TCT>TGT	p.S322C	SPTLC1_uc011ltv.1_Missense_Mutation_p.S322C	NM_006415	NP_006406	O15269	SPTC1_HUMAN	serine palmitoyltransferase subunit 1 isoform a	322	Cytoplasmic (Potential).					integral to membrane|SPOTS complex	protein binding|pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups			ovary(1)|breast(1)	2					L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)	AATTACAAAAGACCTGCCACA	0.388		NaN											0	0	0	1	0	5	19				
ZNF484	83744	broad.mit.edu	37	9	95610035	95610035	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr9:95610035C>T	uc004asu.1	-	5	1183	c.1034G>A	c.(1033-1035)AGA>AAA	p.R345K	ANKRD19_uc004asr.3_Intron|ZNF484_uc011lub.1_Missense_Mutation_p.R347K|ZNF484_uc010mrb.1_Missense_Mutation_p.R309K|ZNF484_uc004asv.1_Missense_Mutation_p.R309K	NM_031486	NP_113674	Q5JVG2	ZN484_HUMAN	zinc finger protein 484 isoform a	345	C2H2-type 3; degenerate.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						TCTCTGGCATCTGAACAGATC	0.363		NaN											0	0	0	1	0	15	47				
CTSL2	1515	broad.mit.edu	37	9	99795232	99795232	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr9:99795232C>T	uc004awt.2	-	8	1201	c.1004G>A	c.(1003-1005)TGA>TAA	p.*335*	CTSL2_uc010msi.2_Silent_p.*335*|CTSL2_uc004awu.2_Silent_p.*280*	NM_001333	NP_001324	O60911	CATL2_HUMAN	cathepsin L2 preproprotein	335						lysosome	cysteine-type endopeptidase activity				0		Acute lymphoblastic leukemia(62;0.0559)				TCCATCAGCTCACACATTGGG	0.468		NaN											0	0	0	1	0	11	51				
NCBP1	4686	broad.mit.edu	37	9	100417166	100417166	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr9:100417166C>T	uc004axq.2	+	12	1634	c.1175C>T	c.(1174-1176)GCA>GTA	p.A392V		NM_002486	NP_002477	Q09161	NCBP1_HUMAN	nuclear cap binding protein subunit 1, 80kDa	392					gene silencing by RNA|histone mRNA metabolic process|mRNA 3'-end processing|mRNA capping|mRNA cleavage|mRNA export from nucleus|ncRNA metabolic process|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of mRNA 3'-end processing|positive regulation of viral transcription|regulation of translational initiation|spliceosomal snRNP assembly|termination of RNA polymerase II transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	cytosol|mRNA cap binding complex|nucleoplasm|ribonucleoprotein complex	protein binding|RNA cap binding			central_nervous_system(1)	1		Acute lymphoblastic leukemia(62;0.158)				TCACAGCTTGCACAGGCAACT	0.358		NaN											0	0	0	1	0	11	38				
ABCA1	19	broad.mit.edu	37	9	107571819	107571819	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr9:107571819G>A	uc004bcl.2	-	30	4515	c.4202C>T	c.(4201-4203)ACC>ATC	p.T1401I		NM_005502	NP_005493	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A member 1	1401	Extracellular.				Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding			large_intestine(4)|lung(4)|ovary(4)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1)	17				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	GAGTTCCAGGGTTCCCGTGTC	0.483		NaN											0	0	0	1	0	10	35				
RAD23B	5887	broad.mit.edu	37	9	110086268	110086268	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr9:110086268G>C	uc004bde.2	+	8	1282	c.915G>C	c.(913-915)CAG>CAC	p.Q305H	RAD23B_uc011lwa.1_Missense_Mutation_p.Q305H|RAD23B_uc011lwb.1_Missense_Mutation_p.Q284H	NM_002874	NP_002865	P54727	RD23B_HUMAN	UV excision repair protein RAD23 homolog B	305	STI1.				nucleotide-excision repair, DNA damage recognition|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|regulation of proteasomal ubiquitin-dependent protein catabolic process	cytoplasm|nucleoplasm|proteasome complex|XPC complex	damaged DNA binding|polyubiquitin binding|single-stranded DNA binding			ovary(1)	1						TACTACAGCAGATAGGTCGAG	0.408		NaN						Direct_reversal_of_damage|NER					0	0	0	1	0	15	46				
PTPN3	5774	broad.mit.edu	37	9	112153421	112153421	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr9:112153421C>T	uc004bed.2	-	21	2215	c.2103G>A	c.(2101-2103)GTG>GTA	p.V701V	PTPN3_uc004beb.2_Silent_p.V570V|PTPN3_uc004bec.2_Silent_p.V525V|PTPN3_uc010mtu.2_RNA|PTPN3_uc011lwg.1_Silent_p.V656V|PTPN3_uc011lwh.1_Silent_p.V547V|PTPN3_uc011lwd.1_Silent_p.V169V|PTPN3_uc011lwe.1_Silent_p.V414V|PTPN3_uc011lwf.1_Silent_p.V369V	NM_002829	NP_002820	P26045	PTN3_HUMAN	protein tyrosine phosphatase, non-receptor type	701	Tyrosine-protein phosphatase.				negative regulation of membrane protein ectodomain proteolysis|negative regulation of mitotic cell cycle	cytoplasm|cytoskeleton|internal side of plasma membrane	ATPase binding|cytoskeletal protein binding|phosphotyrosine binding|protein tyrosine phosphatase activity			ovary(3)	3						AACTTACGTTCACGTAACTTG	0.358		NaN											0	0	0	1	0	7	19				
FKBP15	23307	broad.mit.edu	37	9	115969571	115969571	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr9:115969571G>C	uc004bgs.2	-	3	293	c.175C>G	c.(175-177)CAG>GAG	p.Q59E	FKBP15_uc010muu.1_Missense_Mutation_p.Q123E|FKBP15_uc011lxd.1_Translation_Start_Site|FKBP15_uc010mut.1_Intron|FKBP15_uc004bgt.2_Missense_Mutation_p.Q59E	NM_015258	NP_056073	Q5T1M5	FKB15_HUMAN	FK506 binding protein 15, 133kDa	59					endocytosis|protein folding	axon|early endosome	actin binding			ovary(3)	3						GGTGTTGCCTGATTTCCTGAA	0.338		NaN											0	0	0	1	0	48	207				
ORM1	5004	broad.mit.edu	37	9	117087340	117087340	+	Missense_Mutation	SNP	G	G	C	rs143596557		TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr9:117087340G>C	uc004bik.3	+	5	559	c.448G>C	c.(448-450)GAG>CAG	p.E150Q	ORM1_uc011lxo.1_Intron	NM_000607	NP_000598	P02763	A1AG1_HUMAN	orosomucoid 1 precursor	150					acute-phase response|regulation of immune system process|transport	extracellular space	protein binding				0		Myeloproliferative disorder(63;0.163)			Acenocoumarol(DB01418)|Alfentanil(DB00802)|Aprindine(DB01429)|Disopyramide(DB00280)|Penbutolol(DB01359)|Phenprocoumon(DB00946)|Quinidine(DB00908)|Tamsulosin(DB00706)	TGACAAGCCAGAGACGACCAA	0.612		NaN											0	0	0	1	0	18	61				
TNC	3371	broad.mit.edu	37	9	117838737	117838737	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr9:117838737G>A	uc004bjj.3	-	8	3154	c.2792C>T	c.(2791-2793)TCT>TTT	p.S931F	TNC_uc010mvf.2_Missense_Mutation_p.S931F	NM_002160	NP_002151	P24821	TENA_HUMAN	tenascin C precursor	931	Fibronectin type-III 4.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			central_nervous_system(4)|upper_aerodigestive_tract(1)|ovary(1)|skin(1)	7						GTCCCCTCCAGAGATGGGGGC	0.507		NaN											0	0	0	1	0	64	168				
MEGF9	1955	broad.mit.edu	37	9	123476050	123476050	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr9:123476050G>C	uc004bkj.1	-	1	563	c.563C>G	c.(562-564)TCT>TGT	p.S188C	MEGF9_uc011lyb.1_Missense_Mutation_p.S188C|MEGF9_uc004bkk.3_Missense_Mutation_p.S188C	NM_001080497	NP_001073966	Q9H1U4	MEGF9_HUMAN	multiple EGF-like-domains 9	196	Extracellular (Potential).|Pro-rich.					integral to membrane	calcium ion binding				0						AGGAGGCGAAGAGGGGGCCTC	0.682		NaN											0	0	0	1	0	6	23				
GSN	2934	broad.mit.edu	37	9	124065295	124065295	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr9:124065295C>T	uc004blf.1	+	3	517	c.456C>T	c.(454-456)TTC>TTT	p.F152F	GSN_uc004bld.1_Silent_p.F101F|GSN_uc010mvq.1_Silent_p.F112F|GSN_uc010mvr.1_Silent_p.F112F|GSN_uc010mvu.1_Silent_p.F101F|GSN_uc010mvt.1_Silent_p.F101F|GSN_uc010mvs.1_Silent_p.F101F|GSN_uc004ble.1_Silent_p.F101F|GSN_uc010mvv.1_Silent_p.F101F|GSN_uc011lyh.1_Silent_p.F118F|GSN_uc011lyi.1_Silent_p.F101F|GSN_uc011lyj.1_Silent_p.F125F	NM_000177	NP_000168	P06396	GELS_HUMAN	gelsolin isoform a precursor	152	Actin-severing (Potential).				actin filament polymerization|actin filament severing|barbed-end actin filament capping|cellular component disassembly involved in apoptosis|cilium morphogenesis	actin cytoskeleton|cytosol	actin binding|calcium ion binding|protein binding			breast(2)|ovary(1)	3						TCCAGGGCTTCGAGTCGGCCA	0.617		NaN											0	0	0	1	0	28	112				
DAB2IP	153090	broad.mit.edu	37	9	124522678	124522678	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr9:124522678C>G	uc004bln.2	+	6	1115	c.1046C>G	c.(1045-1047)TCT>TGT	p.S349C	DAB2IP_uc004blo.2_Missense_Mutation_p.S253C	NM_032552	NP_115941	Q5VWQ8	DAB2P_HUMAN	disabled homolog 2 interacting protein isoform	377	Ras-GAP.				activation of JUN kinase activity|apoptosis in response to endoplasmic reticulum stress|cellular response to epidermal growth factor stimulus|cellular response to tumor necrosis factor|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast proliferation|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of Ras GTPase activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|intrinsic to internal side of plasma membrane	14-3-3 protein binding|death receptor binding|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity|protein phosphatase 2A binding|Ras GTPase activator activity|signaling adaptor activity			ovary(1)|central_nervous_system(1)	2						GAGATGGCATCTGCCCTGGTG	0.622		NaN											0	0	0	1	0	12	38				
GOLGA2	2801	broad.mit.edu	37	9	131030767	131030767	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr9:131030767C>T	uc011maw.1	-	3	257	c.244G>A	c.(244-246)GAT>AAT	p.D82N	GOLGA2_uc010mxw.2_Intron|GOLGA2_uc004bul.1_5'UTR|GOLGA2_uc004bum.1_5'UTR	NM_004486	NP_004477	Q08379	GOGA2_HUMAN	Golgi autoantigen, golgin subfamily a, 2	82	Potential.					Golgi cisterna membrane	protein binding			ovary(1)	1						ACGGTGTCATCAGATGGTTGT	0.592		NaN											0	0	0	1	0	11	35				
ODF2	4957	broad.mit.edu	37	9	131258398	131258398	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr9:131258398C>G	uc011mbd.1	+	18	2301	c.1990C>G	c.(1990-1992)CTG>GTG	p.L664V	ODF2_uc004bvb.2_Missense_Mutation_p.L640V|ODF2_uc011mbe.1_Missense_Mutation_p.L659V|ODF2_uc004bvc.2_Missense_Mutation_p.L640V|ODF2_uc004bvd.3_Missense_Mutation_p.L664V|ODF2_uc004bvh.2_Missense_Mutation_p.L18V	NM_002540	NP_002531	Q5BJF6	ODFP2_HUMAN	outer dense fiber of sperm tails 2 isoform 1	664	Potential.				cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis	centriole|cilium|cytosol|microtubule|spindle pole	protein binding|structural molecule activity			ovary(1)	1						ACAGCTGAGTCTGAAGGTGGA	0.483		NaN											0	0	0	1	0	23	82				
ZER1	10444	broad.mit.edu	37	9	131515056	131515056	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr9:131515056G>A	uc004bwa.1	-	5	1252	c.819C>T	c.(817-819)CTC>CTT	p.L273L		NM_006336	NP_006327	Q7Z7L7	ZER1_HUMAN	zyg-11 homolog B (C. elegans)-like	273					ATP hydrolysis coupled proton transport|regulation of ubiquitin-protein ligase activity	Cul2-RING ubiquitin ligase complex|vacuolar proton-transporting V-type ATPase, V1 domain	protein binding|proton-transporting ATPase activity, rotational mechanism|ubiquitin-protein ligase activity			ovary(1)	1						TCTGCACAAAGAGGCTCAGCA	0.557		NaN											0	0	0	1	0	13	70				
C9orf50	375759	broad.mit.edu	37	9	132375791	132375791	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr9:132375791C>G	uc004byc.3	-	5	1168	c.966G>C	c.(964-966)GAG>GAC	p.E322D	C9orf50_uc004byb.3_RNA	NM_199350	NP_955382	Q5SZB4	CI050_HUMAN	hypothetical protein LOC375759	322										ovary(1)|central_nervous_system(1)	2		Ovarian(14;0.00556)				TGGGCAAACTCTCCAGCCGTT	0.632		NaN											0	0	0	1	0	32	84				
TOR1A	1861	broad.mit.edu	37	9	132584879	132584879	+	Nonsense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr9:132584879G>C	uc004byl.2	-	2	502	c.425C>G	c.(424-426)TCA>TGA	p.S142*	TOR1A_uc004bym.2_RNA|TOR1A_uc004byn.2_Nonsense_Mutation_p.S142*	NM_000113	NP_000104	O14656	TOR1A_HUMAN	torsin A precursor	142					chaperone mediated protein folding requiring cofactor|response to unfolded protein	endoplasmic reticulum lumen|nuclear membrane	ATP binding|serine-type endopeptidase activity|unfolded protein binding			central_nervous_system(1)	1		Ovarian(14;0.00556)				GGTGATGTTTGAAGCATGTGG	0.463		NaN											0	0	0	1	0	14	67				
LAMC3	10319	broad.mit.edu	37	9	133948211	133948211	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr9:133948211C>T	uc004caa.1	+	19	3504	c.3406C>T	c.(3406-3408)CTC>TTC	p.L1136F		NM_006059	NP_006050	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3 precursor	1136	Domain II and I.				cell adhesion	basement membrane|membrane	structural molecule activity			ovary(2)|pancreas(1)	3	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		AGCTGCCATTCTCGCGTCTCT	0.453		NaN											0	0	0	1	0	5	18				
GTF3C4	9329	broad.mit.edu	37	9	135553634	135553634	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr9:135553634G>C	uc010mzv.2	+	2	886	c.628G>C	c.(628-630)GAG>CAG	p.E210Q	GTF3C4_uc010mzw.2_RNA	NM_012204	NP_036336	Q9UKN8	TF3C4_HUMAN	general transcription factor IIIC 4	210					transcription initiation from RNA polymerase III promoter	transcription factor TFIIIC complex	DNA binding|enzyme activator activity|histone acetyltransferase activity|protein binding			ovary(1)|central_nervous_system(1)	2				OV - Ovarian serous cystadenocarcinoma(145;8.15e-07)|Epithelial(140;2.6e-05)		TGACCTGACTGAGATCTATGG	0.507		NaN											0	0	0	1	0	19	66				
TSC1	7248	broad.mit.edu	37	9	135778026	135778026	+	Missense_Mutation	SNP	C	C	T	rs118203683		TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr9:135778026C>T	uc004cca.2	-	18	2591	c.2357G>A	c.(2356-2358)CGA>CAA	p.R786Q	TSC1_uc004ccb.3_Missense_Mutation_p.R785Q|TSC1_uc011mcq.1_Missense_Mutation_p.R735Q|TSC1_uc011mcr.1_Intron	NM_000368	NP_000359	Q92574	TSC1_HUMAN	tuberous sclerosis 1 protein isoform 1	786	Potential.				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)		GAATTCCTCTCGGTCATGCTG	0.527		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	1	0	39	141		Valid		
RALGDS	5900	broad.mit.edu	37	9	136004577	136004577	+	Silent	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr9:136004577G>C	uc004ccr.2	-	1	212	c.129C>G	c.(127-129)CTC>CTG	p.L43L	RALGDS_uc011mcv.1_Intron|RALGDS_uc004ccs.2_Intron|RALGDS_uc011mcw.1_Intron	NM_001042368	NP_001035827	Q12967	GNDS_HUMAN	ral guanine nucleotide dissociation stimulator	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					nerve growth factor receptor signaling pathway|Ras protein signal transduction|regulation of small GTPase mediated signal transduction	cytosol	Ral guanyl-nucleotide exchange factor activity			large_intestine(1)|lung(1)|ovary(1)	3				OV - Ovarian serous cystadenocarcinoma(145;3.66e-06)|Epithelial(140;2.77e-05)		TCGGGCTTTGGAGAGCGGCAC	0.687		NaN	T	CIITA	PMBL|Hodgkin Lymphona|								0	0	0	1	0	4	19				
MED22	6837	broad.mit.edu	37	9	136213407	136213407	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr9:136213407G>C	uc004cdc.2	-	2	345	c.111C>G	c.(109-111)ATC>ATG	p.I37M	MED22_uc004cdd.2_Missense_Mutation_p.I37M|RPL7A_uc004cde.1_5'Flank|SNORD24_uc010nah.2_5'Flank|RPL7A_uc004cdf.1_5'Flank	NM_133640	NP_598395	Q15528	MED22_HUMAN	mediator complex subunit 22 isoform b	37					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|mediator complex|soluble fraction	protein binding			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(145;1.14e-06)|Epithelial(140;8.2e-06)|all cancers(34;6.94e-05)		TGGCGGTCTTGATGATCTCGG	0.597		NaN											0	0	0	1	0	33	80				
GLT6D1	360203	broad.mit.edu	37	9	138516451	138516451	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr9:138516451C>T	uc010nbd.1	-	5	577	c.323G>A	c.(322-324)CGA>CAA	p.R108Q		NM_182974	NP_892019	Q7Z4J2	GL6D1_HUMAN	glycosyltransferase 6 domain containing 1	108	Lumenal (Potential).				carbohydrate metabolic process	integral to membrane	transferase activity, transferring hexosyl groups			ovary(1)	1		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;4.3e-07)|Epithelial(140;1.58e-06)|all cancers(34;5.36e-05)		GAAGATCACTCGGTAGCCTGT	0.493		NaN											0	0	0	1	0	21	63				
NOTCH1	4851	broad.mit.edu	37	9	139396271	139396271	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr9:139396271G>A	uc004chz.2	-	30	5567	c.5567C>T	c.(5566-5568)TCT>TTT	p.S1856F		NM_017617	NP_060087	P46531	NOTC1_HUMAN	notch1 preproprotein	1856	Cytoplasmic (Potential).				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			haematopoietic_and_lymphoid_tissue(791)|upper_aerodigestive_tract(29)|lung(13)|central_nervous_system(10)|breast(9)|large_intestine(1)|skin(1)|oesophagus(1)|pancreas(1)	856	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		GGCCATGGCAGACATGCGCAG	0.652		NaN	T|Mis|O	TRB@	T-ALL					HNSCC(8;0.001)			0	0	0	1	0	14	47				
ABCA2	20	broad.mit.edu	37	9	139906347	139906347	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr9:139906347G>A	uc011mem.1	-	34	5629	c.5481C>T	c.(5479-5481)GTC>GTT	p.V1827V	ABCA2_uc011mel.1_Silent_p.V1828V|ABCA2_uc004ckl.1_Silent_p.V1758V|ABCA2_uc004ckm.1_Silent_p.V1858V	NM_001606	NP_001597	Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A, member 2	1827					cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus	ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center	ATP binding|ATPase activity, coupled to transmembrane movement of substances				0	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		TGCAGCCGCTGACAAACTGCA	0.627		NaN											0	0	0	1	0	8	25				
GRIN1	2902	broad.mit.edu	37	9	140051410	140051410	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr9:140051410G>C	uc004clk.2	+	6	1219	c.889G>C	c.(889-891)GAG>CAG	p.E297Q	GRIN1_uc004cli.1_5'UTR|GRIN1_uc004clj.1_Missense_Mutation_p.E294Q|GRIN1_uc004cll.2_Missense_Mutation_p.E297Q|GRIN1_uc004clm.2_Missense_Mutation_p.E297Q|GRIN1_uc004cln.2_Missense_Mutation_p.E315Q|GRIN1_uc004clo.2_Missense_Mutation_p.E315Q	NM_007327	NP_015566	Q05586	NMDZ1_HUMAN	NMDA receptor 1 isoform NR1-3 precursor	297	Extracellular (Potential).				ionotropic glutamate receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|regulation of excitatory postsynaptic membrane potential|response to ethanol|visual learning	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane|synaptic vesicle|synaptosome	calcium ion binding|calmodulin binding|extracellular-glutamate-gated ion channel activity|glutamate binding|glycine binding			skin(1)	1	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;6.87e-05)|Epithelial(140;0.00095)	L-Glutamic Acid(DB00142)|Orphenadrine(DB01173)	CGAGCTCCTCGAGAAGGAGAA	0.682		NaN											0	0	0	1	0	13	26				
ANAPC2	29882	broad.mit.edu	37	9	140075251	140075251	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr9:140075251G>A	uc004clr.1	-	8	1672	c.1599C>T	c.(1597-1599)TTC>TTT	p.F533F	ANAPC2_uc004clq.1_Silent_p.F389F	NM_013366	NP_037498	Q9UJX6	ANC2_HUMAN	anaphase-promoting complex subunit 2	533					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|cyclin catabolic process|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of synapse maturation|positive regulation of synaptic plasticity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination|regulation of cyclin-dependent protein kinase activity	anaphase-promoting complex|cytosol|nucleoplasm	ubiquitin protein ligase binding|ubiquitin-protein ligase activity			ovary(1)	1	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.000858)		GCTCGGGGCTGAAGCTGAACT	0.662		NaN											0	0	0	1	0	25	67				
SLC34A3	142680	broad.mit.edu	37	9	140130619	140130619	+	Silent	SNP	C	C	T	rs139559169		TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr9:140130619C>T	uc004cmf.1	+	13	1737	c.1551C>T	c.(1549-1551)GTC>GTT	p.V517V	SLC34A3_uc011met.1_Silent_p.V517V	NM_080877	NP_543153	Q8N130	NPT2C_HUMAN	solute carrier family 34 (sodium phosphate),	517	Helical; Name=M8; (Potential).				cellular phosphate ion homeostasis	apical plasma membrane|integral to membrane	sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity				0	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)		TGGCCGCTGTCGGGGGTCCCC	0.726		NaN									OREG0019630	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	1	0	7	31				
PNPLA7	375775	broad.mit.edu	37	9	140437939	140437939	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr9:140437939C>G	uc004cnf.2	-	5	713	c.376G>C	c.(376-378)GAC>CAC	p.D126H	PNPLA7_uc010ncj.1_Missense_Mutation_p.D151H	NM_152286	NP_689499	Q6ZV29	PLPL7_HUMAN	patatin-like phospholipase domain containing 7	126					lipid metabolic process	endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane	hydrolase activity			skin(1)	1	all_cancers(76;0.126)			OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)		TTCTTCACGTCAAACTCCGTG	0.597		NaN											0	0	0	1	0	43	106				
CSF2RA	1438	broad.mit.edu	37	X	1419439	1419439	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chrX:1419439G>C	uc010nct.2	+	11	1188	c.866G>C	c.(865-867)AGA>ACA	p.R289T	CSF2RA_uc011mhb.1_Missense_Mutation_p.R289T|CSF2RA_uc004cpq.2_Intron|CSF2RA_uc004cpn.2_Missense_Mutation_p.R289T|CSF2RA_uc004cpo.2_Missense_Mutation_p.R289T|CSF2RA_uc010ncu.2_Intron|CSF2RA_uc011mhc.1_Missense_Mutation_p.R156T|CSF2RA_uc004cpp.2_Missense_Mutation_p.R289T|CSF2RA_uc010ncv.2_Missense_Mutation_p.R289T|CSF2RA_uc004cpr.2_Missense_Mutation_p.R289T	NM_001161529	NP_001155001	P15509	CSF2R_HUMAN	colony stimulating factor 2 receptor alpha chain	289	Extracellular (Potential).					extracellular region|integral to plasma membrane	cytokine receptor activity			ovary(2)	2		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	TCTGAGCCCAGAGCAAAACAC	0.448		NaN											0	0	0	1	0	29	101				
IL3RA	3563	broad.mit.edu	37	X	1499937	1499937	+	Silent	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chrX:1499937C>G	uc004cps.2	+	11	1351	c.1002C>G	c.(1000-1002)CTC>CTG	p.L334L	IL3RA_uc011mhd.1_Silent_p.L256L	NM_002183	NP_002174	P26951	IL3RA_HUMAN	interleukin 3 receptor, alpha precursor	334	Cytoplasmic (Potential).|Box 1 motif.					integral to membrane|plasma membrane	interleukin-3 receptor activity			skin(2)|lung(1)	3		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	TGCAGAGACTCTTTCCCCGCA	0.537		NaN											0	0	0	1	0	95	279				
SFRS17A	8227	broad.mit.edu	37	X	1719909	1719909	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chrX:1719909G>A	uc004cqa.2	+	5	1706	c.1510G>A	c.(1510-1512)GAG>AAG	p.E504K	SFRS17A_uc004cqb.2_RNA|ASMT_uc004cqd.2_Intron	NM_005088	NP_005079	Q02040	AK17A_HUMAN	DNA segment on chromosome X and Y (unique) 155	504					B cell activation|mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|signal transduction	nuclear speck|spliceosomal complex	nucleotide binding|protein binding|RNA binding				0		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GGCCCACCCAGAGGCCGACGG	0.721		NaN											0	0	0	1	0	7	32				
ZBED1	9189	broad.mit.edu	37	X	2406874	2406874	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chrX:2406874G>A	uc004cqg.2	-	2	2088	c.1887C>T	c.(1885-1887)GTC>GTT	p.V629V	DHRSX_uc004cqf.3_Intron|ZBED1_uc004cqh.1_Silent_p.V629V	NM_004729	NP_004720	O96006	ZBED1_HUMAN	zinc finger, BED-type containing 1	629						nuclear chromosome	DNA binding|metal ion binding|protein dimerization activity|transposase activity				0		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				TCTTGGCGCTGACCACGTTGG	0.677		NaN											0	0	0	1	0	86	217				
ARHGAP6	395	broad.mit.edu	37	X	11157176	11157176	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chrX:11157176C>G	uc004cup.1	-	13	3605	c.2732G>C	c.(2731-2733)GGA>GCA	p.G911A	ARHGAP6_uc004cuo.1_RNA|ARHGAP6_uc004cum.1_Missense_Mutation_p.G708A|ARHGAP6_uc004cun.1_Missense_Mutation_p.G731A	NM_013427	NP_038286	O43182	RHG06_HUMAN	Rho GTPase activating protein 6 isoform 1	911					actin filament polymerization|activation of phospholipase C activity|negative regulation of focal adhesion assembly|negative regulation of stress fiber assembly|Rho protein signal transduction	actin filament|cytosol	phospholipase activator activity|phospholipase binding|Rho GTPase activator activity|SH3 domain binding|SH3/SH2 adaptor activity			urinary_tract(1)|lung(1)	2						TGCTTGGCCTCCCTGGTCCGT	0.716		NaN											0	0	0	1	0	18	6				
ASB11	140456	broad.mit.edu	37	X	15311338	15311338	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chrX:15311338C>G	uc004cwp.1	-	4	474	c.474G>C	c.(472-474)CAG>CAC	p.Q158H	ASB11_uc004cwo.1_Missense_Mutation_p.Q137H|ASB11_uc010nes.1_RNA|ASB11_uc010net.1_Missense_Mutation_p.Q141H	NM_080873	NP_543149	Q8WXH4	ASB11_HUMAN	ankyrin repeat and SOCS box-containing protein	158	ANK 3.				intracellular signal transduction					breast(2)|skin(1)	3	Hepatocellular(33;0.183)					GCACCTCCAACTGGGCCTTGG	0.552		NaN											0	0	0	1	0	58	65				
SH3KBP1	30011	broad.mit.edu	37	X	19560286	19560286	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chrX:19560286G>A	uc004czm.2	-	16	1965	c.1649C>T	c.(1648-1650)CCG>CTG	p.P550L	SH3KBP1_uc011mje.1_Missense_Mutation_p.P289L|SH3KBP1_uc011mjf.1_Missense_Mutation_p.P312L|SH3KBP1_uc004czl.2_Missense_Mutation_p.P513L|SH3KBP1_uc010nfm.2_5'UTR	NM_031892	NP_114098	Q96B97	SH3K1_HUMAN	SH3-domain kinase binding protein 1 isoform a	550					apoptosis|cell-cell signaling|endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	cytoplasmic vesicle membrane|cytoskeleton|cytosol|focal adhesion|nucleus|synapse|synaptosome	SH3 domain binding				0						CGGCTTGGGCGGCAGGGATGC	0.632		NaN											0	0	0	1	0	31	37				
SH3KBP1	30011	broad.mit.edu	37	X	19713821	19713821	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chrX:19713821C>G	uc004czm.2	-	5	745	c.429G>C	c.(427-429)AAG>AAC	p.K143N	SH3KBP1_uc004czl.2_Missense_Mutation_p.K106N	NM_031892	NP_114098	Q96B97	SH3K1_HUMAN	SH3-domain kinase binding protein 1 isoform a	143	SH3 2.				apoptosis|cell-cell signaling|endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	cytoplasmic vesicle membrane|cytoskeleton|cytosol|focal adhesion|nucleus|synapse|synaptosome	SH3 domain binding				0						ACATTCCAGTCTTCCCGTTGA	0.483		NaN											0	0	0	1	0	31	37				
FAM47C	442444	broad.mit.edu	37	X	37027545	37027545	+	Silent	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chrX:37027545C>G	uc004ddl.1	+	1	1076	c.1062C>G	c.(1060-1062)CTC>CTG	p.L354L		NM_001013736	NP_001013758	Q5HY64	FA47C_HUMAN	hypothetical protein LOC442444	354										ovary(3)	3						TGTCCCATCTCTGCCCGGAAC	0.627		NaN											0	0	0	1	0	73	50				
TSPAN7	7102	broad.mit.edu	37	X	38525537	38525537	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chrX:38525537C>T	uc004deg.3	+	2	313	c.244C>T	c.(244-246)CGT>TGT	p.R82C	TSPAN7_uc011mkj.1_Missense_Mutation_p.R108C|TSPAN7_uc011mkk.1_Missense_Mutation_p.R99C|TSPAN7_uc004deh.2_5'UTR	NM_004615	NP_004606	P41732	TSN7_HUMAN	tetraspanin 7	82	Cytoplasmic (Potential).				interspecies interaction between organisms	integral to plasma membrane				ovary(1)	1						TGCTACATGTCGTGGTAGCCC	0.418		NaN											0	0	0	1	0	11	23				
CDK16	5127	broad.mit.edu	37	X	47082968	47082968	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chrX:47082968G>A	uc004dho.2	+	2	408	c.12G>A	c.(10-12)ATG>ATA	p.M4I	CDK16_uc011mli.1_Missense_Mutation_p.M10I|CDK16_uc011mlj.1_Missense_Mutation_p.M4I|CDK16_uc011mlk.1_Missense_Mutation_p.M4I|CDK16_uc011mll.1_Missense_Mutation_p.M78I	NM_006201	NP_006192	Q00536	CDK16_HUMAN	PCTAIRE protein kinase 1 isoform 1	4							ATP binding|cyclin-dependent protein kinase activity|protein binding			lung(1)	1						TGGATCGGATGAAGAAGATCA	0.527		NaN											0	0	0	1	0	13	13				
GRIPAP1	56850	broad.mit.edu	37	X	48846411	48846411	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chrX:48846411G>A	uc004dly.1	-	9	730	c.695C>T	c.(694-696)TCC>TTC	p.S232F	GRIPAP1_uc004dlz.2_Missense_Mutation_p.S122F|GRIPAP1_uc004dma.2_Missense_Mutation_p.S179F	NM_020137	NP_064522	Q4V328	GRAP1_HUMAN	GRIP1 associated protein 1 isoform 1	232	Potential.					early endosome				breast(2)|kidney(1)	3						CAGTTTCTCGGAGAGCTGGGG	0.338		NaN											0	0	0	1	0	6	5				
KDM5C	8242	broad.mit.edu	37	X	53222481	53222481	+	Silent	SNP	G	G	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chrX:53222481G>T	uc004drz.2	-	26	4884	c.4351C>A	c.(4351-4353)CGG>AGG	p.R1451R	KDM5C_uc011moc.1_Intron|KDM5C_uc011mod.1_Intron|KDM5C_uc004dsa.2_Silent_p.R1450R|uc004dsb.1_Intron	NM_004187	NP_004178	P41229	KDM5C_HUMAN	jumonji, AT rich interactive domain 1C isoform	1451					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			kidney(9)|ovary(5)|salivary_gland(1)|autonomic_ganglia(1)|haematopoietic_and_lymphoid_tissue(1)|oesophagus(1)	18						GCCCGGCCCCGAGCCCGACTC	0.677		NaN	N|F|S		clear cell renal carcinoma								1	0	1.2644e-06	1	1.30368e-06	16	15				
SPIN3	169981	broad.mit.edu	37	X	57021092	57021092	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chrX:57021092C>G	uc010nkj.2	-	2	575	c.289G>C	c.(289-291)GAA>CAA	p.E97Q	SPIN3_uc004duu.3_Intron|SPIN3_uc004duw.3_Intron|SPIN3_uc004duv.3_Intron|SPIN3_uc004dux.1_Missense_Mutation_p.E97Q	NM_001010862	NP_001010862	Q5JUX0	SPIN3_HUMAN	spindlin family, member 3	97					gamete generation					ovary(1)|central_nervous_system(1)	2						CTGTGAAGTTCCAATCCATAA	0.398		NaN											0	0	0	1	0	50	57				
HEPH	9843	broad.mit.edu	37	X	65390566	65390566	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chrX:65390566C>G	uc011moz.1	+	2	223	c.163C>G	c.(163-165)CTG>GTG	p.L55V	HEPH_uc004dwn.2_Missense_Mutation_p.L55V|HEPH_uc004dwo.2_Intron|HEPH_uc010nkr.2_Missense_Mutation_p.L55V|HEPH_uc011mpa.1_Missense_Mutation_p.L55V	NM_138737	NP_620074	Q9BQS7	HEPH_HUMAN	hephaestin isoform a	52	Extracellular (Potential).|Plastocyanin-like 1.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity			lung(5)|ovary(4)	9						GAACCAGCCTCTGGACAGTGA	0.507		NaN											0	0	0	1	0	9	11				
STARD8	9754	broad.mit.edu	37	X	67938374	67938374	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chrX:67938374G>A	uc004dxa.2	+	5	1750	c.1378G>A	c.(1378-1380)GAG>AAG	p.E460K	STARD8_uc004dxb.2_Missense_Mutation_p.E540K|STARD8_uc004dxc.3_Missense_Mutation_p.E460K	NM_014725	NP_055540	Q92502	STAR8_HUMAN	StAR-related lipid transfer (START) domain	460					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion	GTPase activator activity			breast(3)|ovary(2)|pancreas(1)	6						CTCCATGAATGAGGCTGAGGC	0.592		NaN											0	0	0	1	0	14	14				
MED12	9968	broad.mit.edu	37	X	70338683	70338683	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chrX:70338683C>G	uc004dyy.2	+	1	278	c.79C>G	c.(79-81)CAG>GAG	p.Q27E	MED12_uc011mpq.1_Missense_Mutation_p.Q27E|MED12_uc004dyz.2_Missense_Mutation_p.Q27E|MED12_uc004dza.2_5'Flank	NM_005120	NP_005111	Q93074	MED12_HUMAN	mediator complex subunit 12	27					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)					TGTTTACCCTCAGGACCCCAA	0.677		NaN											0	0	0	1	0	12	14				
ZMYM3	9203	broad.mit.edu	37	X	70465551	70465551	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chrX:70465551C>T	uc004dzh.1	-	17	2914	c.2827G>A	c.(2827-2829)GAG>AAG	p.E943K	BCYRN1_uc011mpt.1_Intron|ZMYM3_uc004dzi.1_Missense_Mutation_p.E943K|ZMYM3_uc004dzj.1_Missense_Mutation_p.E931K	NM_201599	NP_963893	Q14202	ZMYM3_HUMAN	zinc finger protein 261	943					multicellular organismal development	nucleus	DNA binding|zinc ion binding			ovary(1)	1	Renal(35;0.156)					TCTAACTCCTCAGCCTCTGCA	0.547		NaN											0	0	0	1	0	10	12				
PHKA1	5255	broad.mit.edu	37	X	71915560	71915560	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chrX:71915560G>A	uc004eax.3	-	4	753	c.452C>T	c.(451-453)TCA>TTA	p.S151L	PHKA1_uc004eay.3_Missense_Mutation_p.S151L|PHKA1_uc011mqi.1_Missense_Mutation_p.S151L	NM_002637	NP_002628	P46020	KPB1_HUMAN	phosphorylase kinase, alpha 1 (muscle) isoform	151					glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity			ovary(3)|skin(1)	4	Renal(35;0.156)					GTACTGACCTGAGGCAGTCAT	0.498		NaN											0	0	0	1	0	16	19				
POU3F4	5456	broad.mit.edu	37	X	82763834	82763834	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chrX:82763834G>A	uc004eeg.2	+	1	566	c.502G>A	c.(502-504)GAG>AAG	p.E168K		NM_000307	NP_000298	P49335	PO3F4_HUMAN	POU domain, class 3, transcription factor 4	168					sensory perception of sound	nucleus	sequence-specific DNA binding transcription factor activity			ovary(1)	1						GGTGCTCCGAGAGCCCCCGGA	0.637		NaN											0	0	0	1	0	10	6				
RPS6KA6	27330	broad.mit.edu	37	X	83361413	83361413	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chrX:83361413C>T	uc004eej.1	-	15	1402	c.1325G>A	c.(1324-1326)CGA>CAA	p.R442Q	RPS6KA6_uc011mqt.1_Missense_Mutation_p.R442Q|RPS6KA6_uc011mqu.1_Missense_Mutation_p.R339Q	NM_014496	NP_055311	Q9UK32	KS6A6_HUMAN	ribosomal protein S6 kinase polypeptide 6	442	Protein kinase 2.				axon guidance|central nervous system development|intracellular protein kinase cascade|synaptic transmission	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			lung(5)|stomach(1)|central_nervous_system(1)|skin(1)	8						ATGTATGCATCGCTTGCAAAC	0.353		NaN											0	0	0	1	0	4	7				
RAB9B	51209	broad.mit.edu	37	X	103080330	103080330	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chrX:103080330C>T	uc004ell.1	-	3	670	c.385G>A	c.(385-387)GAG>AAG	p.E129K	RAB9B_uc004eli.1_Intron	NM_016370	NP_057454	Q9NP90	RAB9B_HUMAN	RAB9B, member RAS oncogene family	129					Golgi to endosome transport|protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding|protein binding			lung(3)	3						TGCCTATCCTCTTTGTCTACC	0.433		NaN											0	0	0	1	0	94	87				
ZCCHC16	340595	broad.mit.edu	37	X	111698857	111698857	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chrX:111698857C>T	uc004epo.1	+	3	1342	c.901C>T	c.(901-903)CCG>TCG	p.P301S		NM_001004308	NP_001004308	Q6ZR62	ZCH16_HUMAN	zinc finger, CCHC domain containing 16	301							nucleic acid binding|zinc ion binding			ovary(1)	1						TTCTCGAGCTCCGGCAACGAC	0.478		NaN											0	0	0	1	0	22	25				
ZCCHC12	170261	broad.mit.edu	37	X	117959628	117959628	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chrX:117959628C>G	uc004equ.2	+	4	894	c.421C>G	c.(421-423)CAA>GAA	p.Q141E		NM_173798	NP_776159	Q6PEW1	ZCH12_HUMAN	zinc finger, CCHC domain containing 12	141					regulation of transcription, DNA-dependent|transcription, DNA-dependent		nucleic acid binding|zinc ion binding			ovary(1)	1						cctacaagctcaaggggagaa	0		NaN											0	0	0	1	0	57	67				
CUL4B	8450	broad.mit.edu	37	X	119669775	119669775	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chrX:119669775G>C	uc004esw.2	-	18	2561	c.2124C>G	c.(2122-2124)TTC>TTG	p.F708L	CUL4B_uc010nqq.2_Missense_Mutation_p.F409L|CUL4B_uc004esv.2_Missense_Mutation_p.F690L	NM_003588	NP_003579	Q13620	CUL4B_HUMAN	cullin 4B isoform 1	708					cell cycle|DNA repair|ubiquitin-dependent protein catabolic process	Cul4B-RING ubiquitin ligase complex|nucleus	protein binding|ubiquitin protein ligase binding			lung(1)|central_nervous_system(1)|pancreas(1)	3						AAAATGTCTTGAAAATCTCCT	0.348		NaN											0	0	0	1	0	43	26				
FMR1NB	158521	broad.mit.edu	37	X	147088242	147088242	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chrX:147088242C>T	uc004fcm.2	+	3	492	c.418C>T	c.(418-420)CAG>TAG	p.Q140*		NM_152578	NP_689791	Q8N0W7	FMR1N_HUMAN	fragile X mental retardation 1 neighbor	140	P-type.|Extracellular (Potential).					integral to membrane				ovary(1)	1	Acute lymphoblastic leukemia(192;6.56e-05)					GAGGGAAAATCAGGTGGCAAA	0.378		NaN											0	0	0	1	0	29	30				
MTM1	4534	broad.mit.edu	37	X	149807437	149807437	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chrX:149807437G>A	uc004fef.3	+	7	542	c.466G>A	c.(466-468)GAA>AAA	p.E156K	MTM1_uc011mxx.1_RNA|MTM1_uc011mxy.1_Missense_Mutation_p.E119K|MTM1_uc011mxz.1_Missense_Mutation_p.E41K|MTM1_uc010nte.2_Missense_Mutation_p.E24K	NM_000252	NP_000243	Q13496	MTM1_HUMAN	myotubularin	156					endosome to lysosome transport|intermediate filament organization|mitochondrion distribution|mitochondrion morphogenesis|phosphatidylinositol dephosphorylation|protein transport|regulation of vacuole organization	filopodium|late endosome|plasma membrane|ruffle	intermediate filament binding|phosphatidylinositol binding|phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein tyrosine phosphatase activity			upper_aerodigestive_tract(1)|ovary(1)|kidney(1)	3	Acute lymphoblastic leukemia(192;6.56e-05)					ATTTTTAAATGAAGAAAAGTT	0.348		NaN											0	0	0	1	0	23	27				
GABRA3	2556	broad.mit.edu	37	X	151358368	151358368	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chrX:151358368C>A	uc010ntk.1	-	9	1217	c.977G>T	c.(976-978)AGA>ATA	p.R326I		NM_000808	NP_000799	P34903	GBRA3_HUMAN	gamma-aminobutyric acid A receptor, alpha 3	326					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding			ovary(1)	1	Acute lymphoblastic leukemia(192;6.56e-05)				Alprazolam(DB00404)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	TAAGGAATTTCTGGCACTGAT	0.458		NaN											1	0	1.66031e-10	1	1.73405e-10	20	29				
TREX2	11219	broad.mit.edu	37	X	152710201	152710201	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chrX:152710201C>T	uc010nue.1	-	3	930	c.814G>A	c.(814-816)GAT>AAT	p.D272N	TREX2_uc010nud.1_Missense_Mutation_p.D230N|TREX2_uc011myp.1_Missense_Mutation_p.D230N|HAUS7_uc004fhl.2_RNA|HAUS7_uc004fhm.2_RNA	NM_080701	NP_542432	Q9BQ50	TREX2_HUMAN	three prime repair exonuclease 2	273					DNA repair	nucleus	3'-5'-exodeoxyribonuclease activity|exodeoxyribonuclease III activity|nucleic acid binding			large_intestine(1)	1	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CTGGGGTCATCAGGCGGCAAG	0.687		NaN						Editing_and_processing_nucleases					0	0	0	1	0	5	3				
UTY	7404	broad.mit.edu	37	Y	15478205	15478205	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chrY:15478205G>A	uc004fsx.1	-	10	1813	c.808C>T	c.(808-810)CTC>TTC	p.L270F	UTY_uc004fsy.2_Missense_Mutation_p.L270F|UTY_uc004fsz.2_Missense_Mutation_p.L270F	NM_007125	NP_009056	O14607	UTY_HUMAN	tetratricopeptide repeat protein isoform 3	270	TPR 5.				chromatin modification	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen				0						GACTTTTGGAGATACTGAATA	0.368		NaN											0	0	0	1	0	12	22				
TMEM52	339456	broad.mit.edu	37	1	1850628	1850636	+	In_Frame_Del	DEL	AGCGGCAGG	AGCGGCAGG	-			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:1850628_1850636delAGCGGCAGG	uc001aij.2	-	1	105_113	c.69_77delCCTGCCGCT	c.(67-78)CTCCTGCCGCTG>CTG	p.23_26LLPL>L	TMEM52_uc001aii.2_5'Flank	NM_178545	NP_848640	Q8NDY8	TMM52_HUMAN	transmembrane protein 52 precursor	23_26						integral to membrane					0	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;1.82e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.75e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00435)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		CACCTgcggcagcggcaggagcggcagga	0.569		NaN											NaN	NaN	NaN	NaN	NaN	5	3	---		---	---
EIF4EBP2	1979	broad.mit.edu	37	10	72179690	72179691	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr10:72179690_72179691delAG	uc001jrb.2	+	2	463_464	c.166_167delAG	c.(166-168)AGAfs	p.R56fs		NM_004096	NP_004087	Q13542	4EBP2_HUMAN	eukaryotic translation initiation factor 4E	56					negative regulation of translational initiation|translation		eukaryotic initiation factor 4E binding				0						CATTTATGACAGAAAGTTTCTG	0.421		NaN											NaN	NaN	NaN	NaN	NaN	29	112	---		---	---
MYEOV	26579	broad.mit.edu	37	11	69063227	69063257	+	Frame_Shift_Del	DEL	GGTGACCGGGAGAGAAACAAGGGAGACAAGG	GGTGACCGGGAGAGAAACAAGGGAGACAAGG	-			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:69063227_69063257delGGTGACCGGGAGAGAAACAAGGGAGACAAGG	uc001oov.2	+	3	760_790	c.310_340delGGTGACCGGGAGAGAAACAAGGGAGACAAGG	c.(310-342)GGTGACCGGGAGAGAAACAAGGGAGACAAGGGTfs	p.G104fs	MYEOV_uc001oox.2_Intron|MYEOV_uc009ysl.2_Frame_Shift_Del_p.G104fs|MYEOV_uc001oow.2_Frame_Shift_Del_p.G46fs	NM_138768	NP_620123	Q96EZ4	MYEOV_HUMAN	myeloma overexpressed	104_114											0	all_lung(4;2.21e-19)|Lung NSC(4;6.13e-19)|Melanoma(5;0.00128)		LUSC - Lung squamous cell carcinoma(11;3.33e-11)|STAD - Stomach adenocarcinoma(18;0.00654)|LUAD - Lung adenocarcinoma(13;0.0713)	Kidney(183;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(183;3.23e-08)|Lung(977;0.00361)|LUSC - Lung squamous cell carcinoma(976;0.0153)		TGCTGGAGCTGGTGACCGGGAGAGAAACAAGGGAGACAAGGGTGCCCAGAC	0.636		NaN											NaN	NaN	NaN	NaN	NaN	17	154	---		---	---
ANKRD11	29123	broad.mit.edu	37	16	89348573	89348573	+	Frame_Shift_Del	DEL	C	C	-			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr16:89348573delC	uc002fmx.1	-	9	4838	c.4377delG	c.(4375-4377)AAGfs	p.K1459fs	ANKRD11_uc002fmy.1_Frame_Shift_Del_p.K1459fs|ANKRD11_uc002fnc.1_Frame_Shift_Del_p.K1459fs|ANKRD11_uc002fna.1_5'Flank|ANKRD11_uc002fnb.1_Frame_Shift_Del_p.K1416fs	NM_013275	NP_037407	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	1459	Lys-rich.					nucleus				ovary(4)|large_intestine(1)|central_nervous_system(1)	6		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		ctctcttcttcttctctttTA	0.343		NaN											NaN	NaN	NaN	NaN	NaN	30	76	---		---	---
HLA-A	3105	broad.mit.edu	37	6	29910640	29910640	+	Frame_Shift_Del	DEL	C	C	-	rs3173429		TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr6:29910640delC	uc003nol.2	+	2	180	c.180delC	c.(178-180)TTCfs	p.F60fs	HLA-G_uc011dmb.1_Intron|HCG4P6_uc003nog.1_Intron|HLA-A_uc010jrq.2_5'UTR|HLA-A_uc003nok.2_5'UTR|HLA-A_uc003non.2_Frame_Shift_Del_p.F60fs|HLA-A_uc003noo.2_Frame_Shift_Del_p.F60fs|HLA-A_uc010jrr.2_Frame_Shift_Del_p.F60fs|HLA-A_uc003nom.2_5'UTR|HLA-A_uc010klp.2_Frame_Shift_Del_p.F32fs|HLA-A_uc011dmc.1_5'UTR|HLA-A_uc011dmd.1_5'Flank	NM_002116	NP_002107	P30443	1A01_HUMAN	major histocompatibility complex, class I, A	60	Extracellular (Potential).|Alpha-1.				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to plasma membrane|MHC class I protein complex	MHC class I receptor activity			upper_aerodigestive_tract(1)|ovary(1)	2						TCGTGCGGTTCGACAGCGACG	0.667		NaN							Melanoma_Familial_Clustering_of|Lichen_Sclerosis_et_Atrophicus_Familial_Clustering_of|Osteosarcoma_Familial_Clustering_of|Naso-/Oropharyngeal/Laryngeal_Cancer_Familial_Clustering_of	Multiple Myeloma(9;0.094)			NaN	NaN	NaN	NaN	NaN	19	68	---		---	---
KIAA1949	170954	broad.mit.edu	37	6	30653003	30653003	+	Frame_Shift_Del	DEL	A	A	-			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr6:30653003delA	uc003nra.2	-	2	1024	c.793delT	c.(793-795)TCAfs	p.S265fs	KIAA1949_uc003nrb.3_Frame_Shift_Del_p.S265fs	NM_001134870	NP_001128342	Q6NYC8	PHTNS_HUMAN	phostensin	265						cytoplasm|cytoskeleton	actin binding				0						TCTTCTCCTGACCTCAGCCTC	0.522		NaN											NaN	NaN	NaN	NaN	NaN	9	396	---		---	---
ARFGEF1	10565	broad.mit.edu	37	8	68150658	68150658	+	Frame_Shift_Del	DEL	G	G	-			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr8:68150658delG	uc003xxo.1	-	22	3599	c.3209delC	c.(3208-3210)TCTfs	p.S1070fs	ARFGEF1_uc003xxl.1_Frame_Shift_Del_p.S524fs|ARFGEF1_uc003xxn.1_Frame_Shift_Del_p.S53fs	NM_006421	NP_006412	Q9Y6D6	BIG1_HUMAN	brefeldin A-inhibited guanine	1070					exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding			ovary(4)|upper_aerodigestive_tract(1)|large_intestine(1)|lung(1)|kidney(1)	8	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			CACTGTTCCAGAAATGTATCG	0.398		NaN											NaN	NaN	NaN	NaN	NaN	15	49	---		---	---
CSMD3	114788	broad.mit.edu	37	8	113504853	113504853	+	Frame_Shift_Del	DEL	T	T	-			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr8:113504853delT	uc003ynu.2	-	31	5302	c.5143delA	c.(5143-5145)ATGfs	p.M1715fs	CSMD3_uc003yns.2_Frame_Shift_Del_p.M987fs|CSMD3_uc003ynt.2_Frame_Shift_Del_p.M1675fs|CSMD3_uc011lhx.1_Frame_Shift_Del_p.M1611fs	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	1715	Extracellular (Potential).|Sushi 9.					integral to membrane|plasma membrane				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						TTATAATCCATTCCAAGTCTG	0.373		NaN								HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			NaN	NaN	NaN	NaN	NaN	22	83	---		---	---
