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
FAM132A	388581	broad.mit.edu	37	1	1179802	1179802	+	Missense_Mutation	SNP	C	C	G			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr1:1179802C>G	uc001adl.1	-	2	285	c.253G>C	c.(253-255)GGC>CGC	p.G85R		NM_001014980	NP_001014980	Q5T7M4	F132A_HUMAN	family with sequence similarity 132, member A	85						extracellular region					0	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-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;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;2.22e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		CTTAAGGCGCCGTCGTCCGGC	0.677												
UBE2J2	118424	broad.mit.edu	37	1	1190787	1190787	+	Silent	SNP	G	G	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr1:1190787G>A	uc001adn.2	-	7	886	c.576C>T	c.(574-576)GAC>GAT	p.D192D	UBE2J2_uc001adm.2_Silent_p.D157D|UBE2J2_uc001ado.2_Silent_p.D208D|UBE2J2_uc001adp.2_Silent_p.D192D|UBE2J2_uc001adq.2_Silent_p.D140D|UBE2J2_uc001adr.2_Silent_p.D140D|UBE2J2_uc001ads.2_Silent_p.D140D	NM_194458	NP_919440	Q8N2K1	UB2J2_HUMAN	ubiquitin conjugating enzyme E2, J2 isoform 3	192	Cytoplasmic (Potential).				response to unfolded protein	endoplasmic reticulum membrane|integral to membrane	ATP binding|ubiquitin-protein ligase activity				0	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;6.66e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.53e-21)|Colorectal(212;0.00019)|COAD - Colon adenocarcinoma(227;0.000215)|Kidney(185;0.00255)|BRCA - Breast invasive adenocarcinoma(365;0.00266)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0371)|Lung(427;0.205)		GCGTCTCCCCGTCTGGAACCA	0.587												
KIAA0562	9731	broad.mit.edu	37	1	3732035	3732035	+	Silent	SNP	G	G	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr1:3732035G>A	uc001aky.2	-	22	3068	c.2709C>T	c.(2707-2709)GCC>GCT	p.A903A	KIAA0562_uc010nzm.1_RNA	NM_014704	NP_055519	O60308	CE104_HUMAN	glycine-, glutamate-,	903						centriole	binding				0	all_cancers(77;0.0395)|Ovarian(185;0.0634)|all_lung(157;0.222)|Lung NSC(156;0.227)	all_epithelial(116;3.96e-21)|all_lung(118;2.74e-08)|Lung NSC(185;6.4e-06)|Breast(487;0.00066)|Renal(390;0.00121)|Hepatocellular(190;0.00335)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.031)|Lung SC(97;0.0548)|Medulloblastoma(700;0.212)		Epithelial(90;6.85e-39)|OV - Ovarian serous cystadenocarcinoma(86;1.59e-22)|GBM - Glioblastoma multiforme(42;3.16e-16)|Colorectal(212;2.01e-05)|COAD - Colon adenocarcinoma(227;7.99e-05)|BRCA - Breast invasive adenocarcinoma(365;0.000389)|Kidney(185;0.000513)|STAD - Stomach adenocarcinoma(132;0.00709)|KIRC - Kidney renal clear cell carcinoma(229;0.00714)|Lung(427;0.137)		TCTTGCTTCCGGCCTTTGACC	0.642												
PLEKHG5	57449	broad.mit.edu	37	1	6537676	6537676	+	Missense_Mutation	SNP	G	G	C			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr1:6537676G>C	uc001ano.1	-	3	225	c.124C>G	c.(124-126)CCC>GCC	p.P42A	PLEKHG5_uc001ann.1_Missense_Mutation_p.P23A|PLEKHG5_uc001anq.1_Missense_Mutation_p.P63A|PLEKHG5_uc001anp.1_Missense_Mutation_p.P63A|PLEKHG5_uc009vma.1_5'UTR|PLEKHG5_uc010nzr.1_Missense_Mutation_p.P55A|PLEKHG5_uc001ank.1_5'UTR|PLEKHG5_uc009vmb.1_5'UTR|PLEKHG5_uc001anl.1_5'UTR|PLEKHG5_uc001anm.1_5'UTR	NM_001042663	NP_001036128	O94827	PKHG5_HUMAN	pleckstrin homology domain containing family G	42					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|perinuclear region of cytoplasm	Rho guanyl-nucleotide exchange factor activity|signal transducer activity			liver(1)	1	Ovarian(185;0.02)|all_lung(157;0.154)	all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448)		Epithelial(90;5.51e-35)|GBM - Glioblastoma multiforme(13;3.57e-27)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000894)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00159)|READ - Rectum adenocarcinoma(331;0.0419)		AGGTTGAGGGGCCCCCGGCGG	0.632												
ENO1	2023	broad.mit.edu	37	1	8922984	8922984	+	Silent	SNP	G	G	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr1:8922984G>A	uc001apj.1	-	11	1348	c.1197C>T	c.(1195-1197)TGC>TGT	p.C399C	ENO1_uc001api.1_Silent_p.C303C|ENO1_uc001apk.1_Silent_p.C344C|ENO1_uc001apl.1_Intron|ENO1_uc009vmi.1_Silent_p.C356C|ENO1_uc009vmj.1_Intron|ENO1_uc009vmk.1_Silent_p.C273C	NM_001428	NP_001419	P06733	ENOA_HUMAN	enolase 1	399					gluconeogenesis|glycolysis|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|response to virus	phosphopyruvate hydratase complex|plasma membrane|sarcomere	DNA binding|magnesium ion binding|phosphopyruvate hydratase activity|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			ovary(2)|kidney(1)|central_nervous_system(1)	4	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;2.54e-20)|all_lung(118;2.99e-06)|Lung NSC(185;6.25e-06)|Renal(390;0.000147)|Breast(348;0.00086)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;2.42e-07)|COAD - Colon adenocarcinoma(227;2.78e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.00177)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|READ - Rectum adenocarcinoma(331;0.0642)		GCTCAGATCGGCAAGGGGCAC	0.562											OREG0013068	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
SPEN	23013	broad.mit.edu	37	1	16256697	16256697	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr1:16256697C>T	uc001axk.1	+	11	4166	c.3962C>T	c.(3961-3963)GCA>GTA	p.A1321V	SPEN_uc010obp.1_Missense_Mutation_p.A1280V	NM_015001	NP_055816	Q96T58	MINT_HUMAN	spen homolog, transcriptional regulator	1321					interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			ovary(6)|breast(3)|lung(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	15		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		GAACAGATGGCAGATATGGCC	0.378												
SPEN	23013	broad.mit.edu	37	1	16259137	16259137	+	Silent	SNP	A	A	G			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr1:16259137A>G	uc001axk.1	+	11	6606	c.6402A>G	c.(6400-6402)TCA>TCG	p.S2134S	SPEN_uc010obp.1_Silent_p.S2093S	NM_015001	NP_055816	Q96T58	MINT_HUMAN	spen homolog, transcriptional regulator	2134	Interaction with MSX2 (By similarity).				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			ovary(6)|breast(3)|lung(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	15		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		ATGGTTTATCATCCCAGTTGA	0.567												
CROCC	9696	broad.mit.edu	37	1	17250929	17250929	+	Silent	SNP	C	C	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr1:17250929C>T	uc001azt.2	+	3	375	c.306C>T	c.(304-306)GCC>GCT	p.A102A	CROCC_uc009voy.1_Intron|CROCC_uc009voz.1_Intron	NM_014675	NP_055490	Q5TZA2	CROCC_HUMAN	ciliary rootlet coiled-coil	102	Potential.				cell cycle|cell projection organization|centrosome organization|protein localization	actin cytoskeleton|centriole|ciliary rootlet|plasma membrane	kinesin binding|structural molecule activity			ovary(2)|breast(2)|central_nervous_system(1)	5		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		AGAGCCGTGCCGAGCGCGATG	0.662												
ARHGEF10L	55160	broad.mit.edu	37	1	17958909	17958909	+	Missense_Mutation	SNP	C	C	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr1:17958909C>A	uc001ban.2	+	16	1837	c.1678C>A	c.(1678-1680)CGT>AGT	p.R560S	ARHGEF10L_uc009vpe.1_Missense_Mutation_p.R521S|ARHGEF10L_uc001bao.2_Missense_Mutation_p.R521S|ARHGEF10L_uc001bap.2_Missense_Mutation_p.R521S|ARHGEF10L_uc010ocr.1_Missense_Mutation_p.R318S|ARHGEF10L_uc001baq.2_Missense_Mutation_p.R326S|ARHGEF10L_uc010ocs.1_Missense_Mutation_p.R338S|ARHGEF10L_uc001bar.2_Missense_Mutation_p.R268S|ARHGEF10L_uc009vpf.2_RNA	NM_018125	NP_060595	Q9HCE6	ARGAL_HUMAN	Rho guanine nucleotide exchange factor (GEF)	560					regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity			large_intestine(1)|ovary(1)|pancreas(1)	3		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)		GTCCAAGGAGCGTCGGGTCTT	0.597												
KLHDC7A	127707	broad.mit.edu	37	1	18807675	18807675	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr1:18807675C>T	uc001bax.2	+	1	252	c.200C>T	c.(199-201)GCT>GTT	p.A67V	KLHDC7A_uc009vpg.2_5'UTR	NM_152375	NP_689588	Q5VTJ3	KLD7A_HUMAN	kelch domain containing 7A	67						integral to membrane				ovary(2)|upper_aerodigestive_tract(1)	3		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		GGGCAGCCTGCTGTACAGGAG	0.652												
KLHDC7A	127707	broad.mit.edu	37	1	18809031	18809031	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr1:18809031G>A	uc001bax.2	+	1	1608	c.1556G>A	c.(1555-1557)CGC>CAC	p.R519H	KLHDC7A_uc009vpg.2_Missense_Mutation_p.R301H	NM_152375	NP_689588	Q5VTJ3	KLD7A_HUMAN	kelch domain containing 7A	519	Kelch 2.					integral to membrane				ovary(2)|upper_aerodigestive_tract(1)	3		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		GATGTCTGGCGCCCGCTGGCT	0.682												
HTR6	3362	broad.mit.edu	37	1	19992413	19992413	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr1:19992413C>T	uc001bcl.2	+	1	634	c.167C>T	c.(166-168)GCG>GTG	p.A56V		NM_000871	NP_000862	P50406	5HT6R_HUMAN	5-hydroxytryptamine (serotonin) receptor 6	56	Helical; Name=1; (By similarity).				G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	histamine receptor activity|protein binding			ovary(1)	1		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;5.81e-05)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.00117)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)	Granisetron(DB00889)|Ondansetron(DB00904)|Sertindole(DB06144)	ACTCAGCCCGCGCTGCGCAAC	0.547												
MUL1	79594	broad.mit.edu	37	1	20827514	20827514	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr1:20827514A>G	uc001bdi.3	-	4	885	c.728T>C	c.(727-729)CTG>CCG	p.L243P		NM_024544	NP_078820	Q969V5	MUL1_HUMAN	mitochondrial ubiquitin ligase activator of NFKB	243	Helical; (Potential).				activation of caspase activity|activation of JUN kinase activity|induction of apoptosis|mitochondrial fission|mitochondrion localization|negative regulation of cell growth|positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to mitochondrial outer membrane|nucleus|peroxisome	identical protein binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding				0		Colorectal(325;0.000147)|Renal(390;0.000469)|Lung NSC(340;0.00412)|all_lung(284;0.00419)|Breast(348;0.00748)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000137)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.00124)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198)		AACCAGCGCCAGCACCTTCCA	0.592												
SH2D5	400745	broad.mit.edu	37	1	21052443	21052443	+	Silent	SNP	G	G	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr1:21052443G>A	uc001bdt.1	-	4	733	c.108C>T	c.(106-108)TGC>TGT	p.C36C	SH2D5_uc009vpy.1_Silent_p.C120C|SH2D5_uc001bdu.1_Intron	NM_001103160	NP_001096630	Q6ZV89	SH2D5_HUMAN	SH2 domain containing 5 isoform 2	36											0		Colorectal(325;3.46e-05)|all_lung(284;5.32e-05)|Lung NSC(340;5.51e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|COAD - Colon adenocarcinoma(152;1.17e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000142)|GBM - Glioblastoma multiforme(114;0.000465)|Kidney(64;0.000476)|STAD - Stomach adenocarcinoma(196;0.00303)|KIRC - Kidney renal clear cell carcinoma(64;0.00634)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		CAAAGAGGTGGCAGAAGAGCT	0.652												
EPHB2	2048	broad.mit.edu	37	1	23208888	23208888	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr1:23208888G>A	uc009vqj.1	+	6	1485	c.1340G>A	c.(1339-1341)CGC>CAC	p.R447H	EPHB2_uc001bge.2_Missense_Mutation_p.R447H|EPHB2_uc001bgf.2_Missense_Mutation_p.R447H|EPHB2_uc010odu.1_Missense_Mutation_p.R447H	NM_017449	NP_059145	P29323	EPHB2_HUMAN	ephrin receptor EphB2 isoform 1 precursor	447	Fibronectin type-III 2.|Extracellular (Potential).				axon guidance	integral to plasma membrane	ATP binding|transmembrane-ephrin receptor activity			ovary(3)|lung(1)|pancreas(1)	5		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)		CAGGTGAGCCGCACCGTGGAC	0.592									Hereditary_Prostate_Cancer			
TCEB3	6924	broad.mit.edu	37	1	24083458	24083458	+	Silent	SNP	G	G	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr1:24083458G>A	uc001bho.2	+	10	2238	c.2178G>A	c.(2176-2178)CCG>CCA	p.P726P		NM_003198	NP_003189	Q14241	ELOA1_HUMAN	elongin A	726					positive regulation of viral transcription|regulation of transcription from RNA polymerase II promoter|transcription elongation from RNA polymerase II promoter|viral reproduction	integral to membrane	DNA binding			ovary(1)	1		Colorectal(325;3.46e-05)|Lung NSC(340;0.000112)|all_lung(284;0.00016)|Renal(390;0.000219)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;2.42e-24)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;4.74e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000973)|KIRC - Kidney renal clear cell carcinoma(1967;0.00334)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187)		AGCCAGCCCCGTACCCCATGG	0.582												
SRRM1	10250	broad.mit.edu	37	1	24989225	24989225	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr1:24989225C>T	uc001bjm.2	+	12	1782	c.1558C>T	c.(1558-1560)CGG>TGG	p.R520W	SRRM1_uc010oel.1_Missense_Mutation_p.R518W|SRRM1_uc009vrh.1_Missense_Mutation_p.R479W|SRRM1_uc009vri.1_Missense_Mutation_p.R435W|SRRM1_uc010oem.1_RNA	NM_005839	NP_005830	Q8IYB3	SRRM1_HUMAN	serine/arginine repetitive matrix 1	520	Necessary for speckles and matrix localization.|Arg-rich.|Ser-rich.				mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|nuclear matrix|nuclear speck	DNA binding|protein binding|RNA binding			ovary(2)|haematopoietic_and_lymphoid_tissue(1)	3		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0422)|OV - Ovarian serous cystadenocarcinoma(117;1.01e-24)|Colorectal(126;5.95e-08)|COAD - Colon adenocarcinoma(152;3.24e-06)|GBM - Glioblastoma multiforme(114;0.000148)|BRCA - Breast invasive adenocarcinoma(304;0.00177)|KIRC - Kidney renal clear cell carcinoma(1967;0.00348)|STAD - Stomach adenocarcinoma(196;0.00483)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138)		GGTTGGCAGGCGGCGGAGACA	0.478												
LIN28A	79727	broad.mit.edu	37	1	26751934	26751934	+	Silent	SNP	G	G	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr1:26751934G>A	uc001bmj.2	+	3	483	c.369G>A	c.(367-369)CGG>CGA	p.R123R	LIN28A_uc001bmi.1_RNA	NM_024674	NP_078950	Q9H9Z2	LN28A_HUMAN	lin-28 homolog	123					miRNA catabolic process|pre-miRNA processing|regulation of transcription, DNA-dependent|RNA 3'-end processing|stem cell maintenance	cytoplasmic mRNA processing body|nucleolus|stress granule	DNA binding|zinc ion binding			central_nervous_system(1)	1						GTGAGAGGCGGCCAAAAGGAA	0.512												
WASF2	10163	broad.mit.edu	37	1	27744891	27744891	+	Missense_Mutation	SNP	A	A	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr1:27744891A>T	uc001bof.1	-	4	514	c.298T>A	c.(298-300)TTC>ATC	p.F100I	WASF2_uc010ofl.1_Missense_Mutation_p.F100I	NM_006990	NP_008921	Q9Y6W5	WASF2_HUMAN	WAS protein family, member 2	100					actin cytoskeleton organization|G-protein signaling, coupled to cAMP nucleotide second messenger	actin cytoskeleton|lamellipodium	actin binding			skin(2)|ovary(1)	3		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0446)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.7e-08)|COAD - Colon adenocarcinoma(152;2e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00139)|KIRC - Kidney renal clear cell carcinoma(1967;0.00204)|STAD - Stomach adenocarcinoma(196;0.00325)|READ - Rectum adenocarcinoma(331;0.0481)		GAACTTCTGAAGGCTTTTCGG	0.463												
AHDC1	27245	broad.mit.edu	37	1	27875066	27875066	+	Silent	SNP	G	G	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr1:27875066G>A	uc009vsy.2	-	6	4530	c.3561C>T	c.(3559-3561)AGC>AGT	p.S1187S	AHDC1_uc009vsz.1_Silent_p.S1187S	NM_001029882	NP_001025053	Q5TGY3	AHDC1_HUMAN	AT hook, DNA binding motif, containing 1	1187							DNA binding			central_nervous_system(1)	1		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)		TTGAGGCCTCGCTGTTGGCAC	0.607												
RPA2	6118	broad.mit.edu	37	1	28218705	28218705	+	Missense_Mutation	SNP	T	T	G			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr1:28218705T>G	uc001bpe.1	-	9	1064	c.782A>C	c.(781-783)GAT>GCT	p.D261A	RPA2_uc001bpd.1_Missense_Mutation_p.D269A|RPA2_uc010ofp.1_Missense_Mutation_p.D165A	NM_002946	NP_002937	P15927	RFA2_HUMAN	replication protein A2, 32kDa	261	Asp/Glu-rich (acidic).|Interaction with TIPIN (By similarity).				cell cycle checkpoint|DNA recombinase assembly|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA gap filling|regulation of double-strand break repair via homologous recombination|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	DNA replication factor A complex|PML body	protein phosphatase binding|single-stranded DNA binding			skin(1)	1		Colorectal(325;0.000147)|Renal(390;0.00357)|Lung NSC(340;0.00588)|all_lung(284;0.00645)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0557)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0429)|OV - Ovarian serous cystadenocarcinoma(117;3.62e-24)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;1.75e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00294)|STAD - Stomach adenocarcinoma(196;0.00308)|BRCA - Breast invasive adenocarcinoma(304;0.00613)|READ - Rectum adenocarcinoma(331;0.0649)		AAAATGGTCATCATCCACAGT	0.403								Direct_reversal_of_damage|NER				
PTPRU	10076	broad.mit.edu	37	1	29638251	29638251	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr1:29638251C>T	uc001bru.2	+	22	3192	c.3082C>T	c.(3082-3084)CGC>TGC	p.R1028C	PTPRU_uc001brv.2_Missense_Mutation_p.R1024C|PTPRU_uc001brw.2_Missense_Mutation_p.R1018C|PTPRU_uc009vtq.2_Missense_Mutation_p.R1024C|PTPRU_uc009vtr.2_Missense_Mutation_p.R1015C	NM_005704	NP_005695	Q92729	PTPRU_HUMAN	protein tyrosine phosphatase, receptor type, U	1028	Tyrosine-protein phosphatase 1.|Cytoplasmic (Potential).				canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway	cell-cell junction|integral to plasma membrane	beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity			large_intestine(3)|ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	7		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)		GTATGTCGTGCGCACTTTTGC	0.602												
NCDN	23154	broad.mit.edu	37	1	36028856	36028856	+	Missense_Mutation	SNP	T	T	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr1:36028856T>A	uc001bza.2	+	6	1566	c.1439T>A	c.(1438-1440)ATC>AAC	p.I480N	NCDN_uc001bzb.2_Missense_Mutation_p.I480N|NCDN_uc001bzc.2_Missense_Mutation_p.I463N	NM_001014839	NP_001014839	Q9UBB6	NCDN_HUMAN	neurochondrin isoform 1	480					neuron projection development	cytosol|dendrite|neuronal cell body				large_intestine(2)|pancreas(1)	3		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				CCCCGGGAGATCCTGATCAAG	0.612												
CSF3R	1441	broad.mit.edu	37	1	36932116	36932116	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr1:36932116T>C	uc001caw.1	-	17	2531	c.2353A>G	c.(2353-2355)AAG>GAG	p.K785E	MRPS15_uc001cas.2_5'Flank|CSF3R_uc001cat.1_Missense_Mutation_p.K347E|CSF3R_uc009vvc.1_Missense_Mutation_p.K314E|CSF3R_uc001cau.1_Missense_Mutation_p.K185E|CSF3R_uc001cav.1_Intron|CSF3R_uc001cax.1_Missense_Mutation_p.K812E|CSF3R_uc001cay.1_Silent_p.P753P	NM_000760	NP_000751	Q99062	CSF3R_HUMAN	colony stimulating factor 3 receptor isoform a	785	Cytoplasmic (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)	TCATAGGACTTGGGGCTGGGG	0.647												
MTF1	4520	broad.mit.edu	37	1	38304324	38304324	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr1:38304324C>T	uc001cce.1	-	4	893	c.752G>A	c.(751-753)CGA>CAA	p.R251Q	MTF1_uc009vvj.1_5'UTR	NM_005955	NP_005946	Q14872	MTF1_HUMAN	metal-regulatory transcription factor 1	251	C2H2-type 4.					nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|zinc ion binding			ovary(1)|pancreas(1)	2	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				TGTATGAGTTCGAATGTGCTT	0.438												
RLF	6018	broad.mit.edu	37	1	40702626	40702626	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr1:40702626C>T	uc001cfc.3	+	8	2283	c.2252C>T	c.(2251-2253)GCT>GTT	p.A751V	RLF_uc001cfd.3_Missense_Mutation_p.A442V	NM_012421	NP_036553	Q13129	RLF_HUMAN	rearranged L-myc fusion	751	C2H2-type 4.				chromosome organization|DNA integration|DNA mediated transformation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			ovary(2)|pancreas(1)	3	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461)			GATTGCTATGCTAGGTTTGGA	0.383												
SMAP2	64744	broad.mit.edu	37	1	40880951	40880951	+	Silent	SNP	T	T	C			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr1:40880951T>C	uc001cfj.2	+	7	644	c.579T>C	c.(577-579)CCT>CCC	p.P193P	SMAP2_uc010ojh.1_Silent_p.P193P|SMAP2_uc001cfk.2_Silent_p.P163P|SMAP2_uc010oji.1_Silent_p.P110P|SMAP2_uc010ojj.1_Silent_p.P9P	NM_022733	NP_073570	Q8WU79	SMAP2_HUMAN	small ArfGAP2	193	Interaction with clathrin heavy chains (By similarity).				regulation of ARF GTPase activity	cytoplasm|nucleus	ARF GTPase activator activity|zinc ion binding				0	Lung NSC(20;1.56e-05)|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;1.04e-17)			TAGATGCTCCTGTGGCCTGCT	0.458												
ZNF642	339559	broad.mit.edu	37	1	40961306	40961306	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr1:40961306A>G	uc001cfo.2	+	6	1450	c.1156A>G	c.(1156-1158)AAT>GAT	p.N386D	ZNF642_uc009vwb.2_Missense_Mutation_p.N386D|ZNF642_uc010ojk.1_Missense_Mutation_p.N387D	NM_198494	NP_940896	Q49AA0	ZN642_HUMAN	zinc finger protein 642	386	C2H2-type 5.				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;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;8.81e-19)			TTTTACTTGCAATGAATGTGG	0.393												
RIMKLA	284716	broad.mit.edu	37	1	42880544	42880544	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr1:42880544C>T	uc001chi.2	+	5	1213	c.1075C>T	c.(1075-1077)CGG>TGG	p.R359W		NM_173642	NP_775913	Q8IXN7	RIMKA_HUMAN	ribosomal modification protein rimK-like family	359					protein modification process	cytoplasm	acid-amino acid ligase activity|ATP binding|metal ion binding				0						GGGAGAGATCCGGGATTCCTC	0.527												
ZMYND12	84217	broad.mit.edu	37	1	42915622	42915622	+	Silent	SNP	C	C	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr1:42915622C>A	uc001chj.2	-	2	489	c.219G>T	c.(217-219)CGG>CGT	p.R73R	ZMYND12_uc010ojt.1_Missense_Mutation_p.A21S	NM_032257	NP_115633	Q9H0C1	ZMY12_HUMAN	zinc finger, MYND-type containing 12 isoform 1	73						intracellular	zinc ion binding			ovary(1)	1	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GGCCATGCTGCCGTTCTTCCT	0.542												
CLDN19	149461	broad.mit.edu	37	1	43204130	43204130	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr1:43204130C>T	uc001cht.1	-	2	541	c.350G>A	c.(349-351)CGT>CAT	p.R117H	CLDN19_uc001chu.2_Missense_Mutation_p.R117H|CLDN19_uc010ojv.1_Missense_Mutation_p.R117H	NM_148960	NP_683763	Q8N6F1	CLD19_HUMAN	claudin 19 isoform a	117	Cytoplasmic (Potential).				calcium-independent cell-cell adhesion|response to stimulus|visual perception	basolateral plasma membrane|integral to membrane|tight junction	identical protein binding				0	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GATGGCAACACGGCCCTTGGC	0.642												
ARTN	9048	broad.mit.edu	37	1	44401350	44401350	+	Missense_Mutation	SNP	C	C	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr1:44401350C>A	uc001cks.2	+	3	804	c.22C>A	c.(22-24)CTC>ATC	p.L8I	ARTN_uc001ckv.2_Missense_Mutation_p.L8I|ARTN_uc001ckt.2_Missense_Mutation_p.L8I|ARTN_uc001cku.2_Missense_Mutation_p.L8I|ARTN_uc001ckw.2_5'Flank	NM_057091	NP_476432	Q5T4W7	ARTN_HUMAN	neurotrophic factor artemin isoform 1 precursor	8					axon guidance|neuroblast proliferation|signal transduction	extracellular region	growth factor activity				0	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)				ACTTGGAGGCCTCTCCACGCT	0.577												
IPO13	9670	broad.mit.edu	37	1	44433043	44433043	+	Silent	SNP	C	C	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr1:44433043C>T	uc001ckx.2	+	19	3465	c.2670C>T	c.(2668-2670)TTC>TTT	p.F890F	IPO13_uc001cky.2_Silent_p.F108F	NM_014652	NP_055467	O94829	IPO13_HUMAN	importin 13	890					protein import into nucleus	cytoplasm|nucleus	protein binding|protein transporter activity			central_nervous_system(1)	1	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0821)				ATATCCTGTTCGCCCTGAACA	0.627												
HECTD3	79654	broad.mit.edu	37	1	45473119	45473119	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr1:45473119C>T	uc009vxk.2	-	10	1567	c.1469G>A	c.(1468-1470)CGA>CAA	p.R490Q	HECTD3_uc001cmx.3_5'Flank|HECTD3_uc001cmy.3_Missense_Mutation_p.R100Q|HECTD3_uc010olh.1_Missense_Mutation_p.R206Q	NM_024602	NP_078878	Q5T447	HECD3_HUMAN	HECT domain containing 3	490					proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm	ubiquitin-protein ligase activity				0	Acute lymphoblastic leukemia(166;0.155)					GGCAGGGTCTCGAGAGGGGCA	0.602												
NSUN4	387338	broad.mit.edu	37	1	46826501	46826501	+	Splice_Site	SNP	G	G	A	rs142333016	byFrequency	TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr1:46826501G>A	uc001cpr.1	+	5	987	c.878_splice	c.e5+1	p.A293_splice	NSUN4_uc010omc.1_Splice_Site_p.A244_splice|NSUN4_uc009vyf.1_Splice_Site_p.A142_splice|NSUN4_uc009vyg.1_Splice_Site_p.A244_splice|NSUN4_uc001cpt.1_Splice_Site|NSUN4_uc001cps.1_Splice_Site	NM_199044	NP_950245	Q96CB9	NSUN4_HUMAN	NOL1/NOP2/Sun domain family 4 protein								methyltransferase activity				0	Acute lymphoblastic leukemia(166;0.155)					AGCTTCTTGCGTGAGTGACAG	0.498												
CYP4Z1	199974	broad.mit.edu	37	1	47564887	47564887	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr1:47564887A>G	uc001cqu.1	+	8	1001	c.998A>G	c.(997-999)TAC>TGC	p.Y333C		NM_178134	NP_835235	Q86W10	CP4Z1_HUMAN	cytochrome P450 4Z1	333	Lumenal (Potential).					endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding			skin(1)	1						TTGGCAAAGTACCCTGAGCAT	0.468												
ORC1L	4998	broad.mit.edu	37	1	52849543	52849543	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr1:52849543G>A	uc001ctt.2	-	12	2041	c.1822C>T	c.(1822-1824)CGA>TGA	p.R608*	ORC1L_uc010oni.1_Nonsense_Mutation_p.R603*|ORC1L_uc001ctu.2_Nonsense_Mutation_p.R608*|ORC1L_uc009vzd.2_Nonsense_Mutation_p.R362*	NM_004153	NP_004144	Q13415	ORC1_HUMAN	origin recognition complex, subunit 1	608	Necessary and sufficient for ORC complex assembly.				cell cycle checkpoint|DNA-dependent DNA replication initiation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle	cytosol|nuclear origin of replication recognition complex|nucleolus|nucleoplasm|plasma membrane	ATP binding|DNA binding|nucleoside-triphosphatase activity|protein binding				0						GGTGACCCTCGGGTGCAGAAT	0.542												
DMRTB1	63948	broad.mit.edu	37	1	53925262	53925262	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr1:53925262C>T	uc001cvq.1	+	1	191	c.136C>T	c.(136-138)CGC>TGC	p.R46C		NM_033067	NP_149056	Q96MA1	DMRTB_HUMAN	DMRT-like family B with proline-rich C-terminal,	46	DM.				sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			ovary(1)|skin(1)	2						GATCTCCGAGCGCCAGAAGAT	0.662												
DNAJC6	9829	broad.mit.edu	37	1	65855087	65855087	+	Missense_Mutation	SNP	C	C	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr1:65855087C>A	uc001dcd.1	+	10	1335	c.1171C>A	c.(1171-1173)CTC>ATC	p.L391I	DNAJC6_uc001dcc.1_Missense_Mutation_p.L422I|DNAJC6_uc010opc.1_Missense_Mutation_p.L378I|DNAJC6_uc001dce.1_Missense_Mutation_p.L448I	NM_014787	NP_055602	O75061	AUXI_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 6	391					cellular membrane organization|post-Golgi vesicle-mediated transport	cytosol	heat shock protein binding|protein tyrosine phosphatase activity|SH3 domain binding			large_intestine(1)|lung(1)|ovary(1)	3						TCCCAGCATCCTCTTCTCTTC	0.433												
SGIP1	84251	broad.mit.edu	37	1	67101641	67101641	+	Silent	SNP	C	C	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr1:67101641C>T	uc001dcr.2	+	4	331	c.114C>T	c.(112-114)CAC>CAT	p.H38H		NM_032291	NP_115667	Q9BQI5	SGIP1_HUMAN	SH3-domain GRB2-like (endophilin) interacting	38					positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess	AP-2 adaptor complex	microtubule binding|phospholipid binding|SH3 domain binding			ovary(3)	3						CCAGCCCACACGAACCACCCT	0.378												
C1orf141	400757	broad.mit.edu	37	1	67558859	67558859	+	Silent	SNP	A	A	G			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr1:67558859A>G	uc001ddl.1	-	7	1143	c.1032T>C	c.(1030-1032)ACT>ACC	p.T344T	C1orf141_uc001ddm.1_Silent_p.T344T|C1orf141_uc001ddn.1_RNA	NM_001013674	NP_001013696	Q5JVX7	CA141_HUMAN	hypothetical protein LOC400757	344										ovary(1)	1						CAAATTTTCCAGTTTGGGCAC	0.348												
SYDE2	84144	broad.mit.edu	37	1	85624662	85624662	+	Missense_Mutation	SNP	T	T	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr1:85624662T>A	uc009wcm.2	-	7	3405	c.3356A>T	c.(3355-3357)GAT>GTT	p.D1119V		NM_032184	NP_115560	Q5VT97	SYDE2_HUMAN	synapse defective 1, Rho GTPase, homolog 2	1119					activation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	Rho GTPase activator activity			ovary(1)|central_nervous_system(1)	2				all cancers(265;0.0126)|Epithelial(280;0.0336)		GATTTTTCTATCTTCTGAAGG	0.358												
ZNF644	84146	broad.mit.edu	37	1	91404466	91404466	+	Silent	SNP	A	A	G			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr1:91404466A>G	uc001dnw.2	-	3	2587	c.2445T>C	c.(2443-2445)TCT>TCC	p.S815S	ZNF644_uc001dnv.2_Intron|ZNF644_uc001dnx.2_Intron|ZNF644_uc001dny.1_Silent_p.S815S	NM_201269	NP_958357	Q9H582	ZN644_HUMAN	zinc finger protein 644 isoform 1	815					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|breast(1)|skin(1)	3		all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101)		all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		TTTCCTTCTTAGATTCCTTAA	0.378												
CDC7	8317	broad.mit.edu	37	1	91985737	91985737	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr1:91985737C>T	uc001doe.2	+	11	1396	c.1231C>T	c.(1231-1233)CGA>TGA	p.R411*	CDC7_uc001dof.2_Nonsense_Mutation_p.R411*|CDC7_uc010osw.1_Nonsense_Mutation_p.R383*|CDC7_uc009wdc.2_Nonsense_Mutation_p.R411*|CDC7_uc009wdd.2_Intron	NM_003503	NP_003494	O00311	CDC7_HUMAN	cell division cycle 7	411	Protein kinase.				cell cycle checkpoint|cell division|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|positive regulation of cell proliferation|regulation of S phase	cytoplasm|nucleoplasm	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			stomach(2)|large_intestine(1)|ovary(1)|central_nervous_system(1)	5		all_lung(203;0.0165)|Lung NSC(277;0.0562)		all cancers(265;0.00108)|Epithelial(280;0.0184)|KIRC - Kidney renal clear cell carcinoma(1967;0.124)		GCTTAGTGGACGATATCCATT	0.318												
RPAP2	79871	broad.mit.edu	37	1	92767148	92767148	+	Splice_Site	SNP	G	G	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr1:92767148G>A	uc001dot.2	+	3	343	c.234_splice	c.e3+1	p.C78_splice	RPAP2_uc009wdh.2_Splice_Site|GLMN_uc001dor.2_5'Flank|GLMN_uc009wdg.2_5'Flank|GLMN_uc001dos.2_5'Flank	NM_024813	NP_079089	Q8IXW5	RPAP2_HUMAN	RNA polymerase II associated protein 2							integral to membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity			ovary(1)	1		all_lung(203;0.0565)|Lung NSC(277;0.152)|Glioma(108;0.222)		all cancers(265;0.00647)|GBM - Glioblastoma multiforme(16;0.0234)|Epithelial(280;0.115)		AATGGAGTGTGTATGTGTTAA	0.313												
RPAP2	79871	broad.mit.edu	37	1	92789302	92789302	+	Silent	SNP	C	C	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr1:92789302C>T	uc001dot.2	+	8	934	c.825C>T	c.(823-825)GGC>GGT	p.G275G	RPAP2_uc009wdh.2_RNA	NM_024813	NP_079089	Q8IXW5	RPAP2_HUMAN	RNA polymerase II associated protein 2	275						integral to membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity			ovary(1)	1		all_lung(203;0.0565)|Lung NSC(277;0.152)|Glioma(108;0.222)		all cancers(265;0.00647)|GBM - Glioblastoma multiforme(16;0.0234)|Epithelial(280;0.115)		AGCAGTTAGGCGATTGCAAAT	0.373												
EXTL2	2135	broad.mit.edu	37	1	101343423	101343423	+	Missense_Mutation	SNP	C	C	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr1:101343423C>A	uc001dtk.1	-	3	379	c.42G>T	c.(40-42)ATG>ATT	p.M14I	EXTL2_uc001dtl.1_Missense_Mutation_p.M14I|EXTL2_uc010ouk.1_Missense_Mutation_p.M1I|EXTL2_uc001dtm.1_Missense_Mutation_p.M14I	NM_001439	NP_001430	Q9UBQ6	EXTL2_HUMAN	exostoses-like 2	14	Cytoplasmic (Potential).				N-acetylglucosamine metabolic process|UDP-N-acetylgalactosamine metabolic process	extracellular region|integral to membrane|intrinsic to endoplasmic reticulum membrane	alpha-1,4-N-acetylgalactosaminyltransferase activity|glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|metal ion binding			skin(1)	1		all_epithelial(167;2.48e-06)|all_lung(203;0.000414)|Lung NSC(277;0.000946)		Epithelial(280;0.0425)|all cancers(265;0.0628)|COAD - Colon adenocarcinoma(174;0.148)|Colorectal(144;0.167)|Lung(183;0.195)		CTCGAATCCCCATTACTCTCC	0.428												
COL11A1	1301	broad.mit.edu	37	1	103427746	103427746	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr1:103427746G>A	uc001dul.2	-	40	3418	c.3100C>T	c.(3100-3102)CTT>TTT	p.L1034F	COL11A1_uc001duk.2_Missense_Mutation_p.L230F|COL11A1_uc001dum.2_Missense_Mutation_p.L1046F|COL11A1_uc001dun.2_Missense_Mutation_p.L995F|COL11A1_uc009weh.2_Missense_Mutation_p.L918F	NM_001854	NP_001845	P12107	COBA1_HUMAN	alpha 1 type XI collagen isoform A	1034	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	12		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		GCTCCAGGAAGACCTCTTTCC	0.383												
AMY1A	276	broad.mit.edu	37	1	104203067	104203067	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr1:104203067G>A	uc001duu.2	+	7	1178	c.964G>A	c.(964-966)GCT>ACT	p.A322T	AMY1A_uc001duv.2_Missense_Mutation_p.A322T	NM_001008221	NP_001008222	P04745	AMY1_HUMAN	salivary amylase alpha 1A precursor	322					carbohydrate metabolic process|digestion	extracellular region	alpha-amylase activity|metal ion binding|protein binding				0		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Colorectal(144;0.0654)|all cancers(265;0.0808)|Epithelial(280;0.0921)|Lung(183;0.111)		AGGACATGGCGCTGGAGGAGC	0.408												
VAV3	10451	broad.mit.edu	37	1	108307782	108307782	+	Silent	SNP	C	C	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr1:108307782C>T	uc001dvk.1	-	9	891	c.837G>A	c.(835-837)GGG>GGA	p.G279G	VAV3_uc010ouw.1_Silent_p.G279G|VAV3_uc001dvl.1_Silent_p.G103G|VAV3_uc010oux.1_Silent_p.G279G	NM_006113	NP_006104	Q9UKW4	VAV3_HUMAN	vav 3 guanine nucleotide exchange factor isoform	279	DH.				angiogenesis|apoptosis|B cell receptor signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of B cell proliferation|regulation of Rho protein signal transduction|response to DNA damage stimulus|response to drug|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity			ovary(5)|lung(2)|breast(2)	9		all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594)		Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204)		TGCAGTACTGCCCGTAAATAA	0.373												
CELSR2	1952	broad.mit.edu	37	1	109810580	109810580	+	Silent	SNP	C	C	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr1:109810580C>T	uc001dxa.3	+	17	6277	c.6216C>T	c.(6214-6216)AGC>AGT	p.S2072S		NM_001408	NP_001399	Q9HCU4	CELR2_HUMAN	cadherin EGF LAG seven-pass G-type receptor 2	2072	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)		ACTTCGGCAGCGACGTCAAGG	0.662												
GNAI3	2773	broad.mit.edu	37	1	110121917	110121917	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr1:110121917G>A	uc001dxz.2	+	4	552	c.395G>A	c.(394-396)CGA>CAA	p.R132Q		NM_006496	NP_006487	P08754	GNAI3_HUMAN	guanine nucleotide binding protein (G protein),	132					cell cycle|cell division|inhibition of adenylate cyclase activity by G-protein signaling pathway|platelet activation|synaptic transmission	centrosome|heterotrimeric G-protein complex|midbody	G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|metabotropic serotonin receptor binding|signal transducer activity			ovary(1)	1		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Lung(183;0.046)|Colorectal(144;0.119)|Epithelial(280;0.139)|all cancers(265;0.147)|LUSC - Lung squamous cell carcinoma(189;0.237)		CGGTTATGGCGAGATGGTGGG	0.428												
HSD3B1	3283	broad.mit.edu	37	1	120054205	120054205	+	Silent	SNP	C	C	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr1:120054205C>T	uc001ehv.1	+	3	370	c.225C>T	c.(223-225)GAC>GAT	p.D75D	HSD3B1_uc001ehw.2_Silent_p.D77D	NM_000862	NP_000853	P14060	3BHS1_HUMAN	3 beta-hydroxysteroid dehydrogenase 1	75					androgen biosynthetic process|estrogen biosynthetic process|glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process	integral to membrane|microsome|mitochondrial inner membrane|mitochondrial intermembrane space|smooth endoplasmic reticulum membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|steroid delta-isomerase activity			ovary(2)	2	all_neural(166;0.219)	all_lung(203;3.16e-06)|Lung NSC(69;2.19e-05)|all_epithelial(167;0.000624)		Lung(183;0.0106)|LUSC - Lung squamous cell carcinoma(189;0.0554)	NADH(DB00157)|Trilostane(DB01108)	CCTGCCAGGACGTCTCGGTCA	0.502												
ITGA10	8515	broad.mit.edu	37	1	145533915	145533915	+	Missense_Mutation	SNP	C	C	T	rs150141083		TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr1:145533915C>T	uc001eoa.2	+	13	1637	c.1561C>T	c.(1561-1563)CGT>TGT	p.R521C	NBPF10_uc001emp.3_Intron|ITGA10_uc010oyv.1_Missense_Mutation_p.R390C|ITGA10_uc009wiw.2_Missense_Mutation_p.R378C|ITGA10_uc010oyw.1_Missense_Mutation_p.R466C	NM_003637	NP_003628	O75578	ITA10_HUMAN	integrin, alpha 10 precursor	521	FG-GAP 5.|Extracellular (Potential).				cell-matrix adhesion|integrin-mediated signaling pathway	integrin complex	collagen binding|receptor activity	p.R521H(1)		lung(2)|ovary(2)|kidney(2)|large_intestine(1)|skin(1)	8	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GGAAACAGGACGTGTTTATGT	0.552												
GJA8	2703	broad.mit.edu	37	1	147380700	147380700	+	Silent	SNP	C	C	T	rs148480116		TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr1:147380700C>T	uc001epu.1	+	2	681	c.618C>T	c.(616-618)ATC>ATT	p.I206I		NM_005267	NP_005258	P48165	CXA8_HUMAN	connexin 50	206	Helical; (Potential).				cell communication|visual perception	connexon complex|integral to plasma membrane	channel activity			ovary(2)|large_intestine(2)|breast(1)|skin(1)	6	all_hematologic(923;0.0276)					CCATCTTCATCCTGTTCATGT	0.607												
NBPF14	25832	broad.mit.edu	37	1	148009502	148009502	+	Missense_Mutation	SNP	A	A	C			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr1:148009502A>C	uc001eqq.2	-	16	1822	c.1805T>G	c.(1804-1806)CTG>CGG	p.L602R	LOC200030_uc001eqe.2_Intron|LOC200030_uc001eqf.2_Intron|LOC200030_uc001eqg.2_Intron|FLJ39739_uc001eqo.1_Intron|NBPF14_uc010pab.1_Intron|NBPF14_uc010pac.1_Missense_Mutation_p.L175R|NBPF14_uc001eqx.2_Intron|NBPF14_uc010pad.1_Intron|NBPF14_uc001eqs.1_Intron	NM_015383	NP_056198	Q5TI25	NBPFE_HUMAN	hypothetical protein LOC25832	602	NBPF 7.					cytoplasm				ovary(1)	1	all_hematologic(923;0.032)					CTCATCCAACAGCTCCCCGCT	0.478												
TMOD4	29765	broad.mit.edu	37	1	151143428	151143428	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr1:151143428C>T	uc001exc.3	-	8	1028	c.838G>A	c.(838-840)GCC>ACC	p.A280T	TMOD4_uc001exb.2_Missense_Mutation_p.A108T|TMOD4_uc001exd.2_RNA|TMOD4_uc010pct.1_Missense_Mutation_p.A211T	NM_013353	NP_037485	Q9NZQ9	TMOD4_HUMAN	tropomodulin 4 (muscle)	280					muscle contraction	cytoplasm|cytoskeleton	actin binding|tropomyosin binding			ovary(1)	1	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)			GTGAGTGTGGCATTTTCCCGA	0.517												
RORC	6097	broad.mit.edu	37	1	151785790	151785790	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr1:151785790G>A	uc001ezh.2	-	8	1207	c.1099C>T	c.(1099-1101)CGG>TGG	p.R367W	RORC_uc001ezg.2_Missense_Mutation_p.R346W|RORC_uc010pdo.1_Missense_Mutation_p.R421W|RORC_uc010pdp.1_Missense_Mutation_p.R367W	NM_005060	NP_005051	P51449	RORG_HUMAN	RAR-related orphan receptor C isoform a	367	Ligand-binding.				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			ovary(1)|skin(1)	2	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			TTGTAGGCCCGGCACATCCTA	0.567												
TCHH	7062	broad.mit.edu	37	1	152080509	152080509	+	Missense_Mutation	SNP	C	C	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr1:152080509C>A	uc001ezp.2	-	2	5184	c.5184G>T	c.(5182-5184)GAG>GAT	p.E1728D	TCHH_uc009wne.1_Missense_Mutation_p.E1728D	NM_007113	NP_009044	Q07283	TRHY_HUMAN	trichohyalin	1728	23 X 26 AA approximate tandem repeats.				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)			GCAGCTGTTCCTCCTCACGGA	0.562												
TCHH	7062	broad.mit.edu	37	1	152083351	152083351	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr1:152083351C>T	uc001ezp.2	-	2	2342	c.2342G>A	c.(2341-2343)CGT>CAT	p.R781H	TCHH_uc009wne.1_Missense_Mutation_p.R781H	NM_007113	NP_009044	Q07283	TRHY_HUMAN	trichohyalin	781					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)			CAGCCTCTGACGGCCCCTCTC	0.687												
CRNN	49860	broad.mit.edu	37	1	152382422	152382422	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr1:152382422G>A	uc001ezx.2	-	3	1210	c.1136C>T	c.(1135-1137)ACG>ATG	p.T379M		NM_016190	NP_057274	Q9UBG3	CRNN_HUMAN	cornulin	379	Gln-rich.				cell-cell adhesion|response to heat	cytoplasm|membrane	calcium ion binding			ovary(2)|skin(1)	3	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCCTGGCTGCGTCTGGGTCTG	0.587												
S100A14	57402	broad.mit.edu	37	1	153588392	153588392	+	Translation_Start_Site	SNP	G	G	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr1:153588392G>T	uc001fce.2	-	2	41	c.-57C>A	c.(-59--55)CTCTG>CTATG		S100A16_uc001fcd.1_5'Flank	NM_020672	NP_065723	Q9HCY8	S10AE_HUMAN	S100 calcium binding protein A14						calcium ion homeostasis|defense response to bacterium|positive regulation of granulocyte chemotaxis|positive regulation of monocyte chemotaxis|response to lipopolysaccharide|toll-like receptor 4 signaling pathway	cell junction|microtubule cytoskeleton|perinuclear region of cytoplasm	calcium ion binding|chemokine receptor binding				0	all_lung(78;1.84e-32)|Lung NSC(65;6.67e-31)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			GCTGGCCCCAGAGGAGCTGAT	0.562												
DCST2	127579	broad.mit.edu	37	1	154999182	154999182	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr1:154999182A>G	uc001fgm.2	-	9	1432	c.1352T>C	c.(1351-1353)TTG>TCG	p.L451S	DCST2_uc009wpb.2_RNA	NM_144622	NP_653223	Q5T1A1	DCST2_HUMAN	DC-STAMP domain containing 2	451	Extracellular (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)			TAGAGACACCAACACAGGACC	0.498												
TRIM46	80128	broad.mit.edu	37	1	155148109	155148109	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr1:155148109G>A	uc001fhs.1	+	2	394	c.311G>A	c.(310-312)CGG>CAG	p.R104Q	RAG1AP1_uc010pey.1_Intron|KRTCAP2_uc001fho.2_5'Flank|KRTCAP2_uc001fhp.1_5'Flank|TRIM46_uc009wpe.1_RNA|TRIM46_uc010pez.1_Missense_Mutation_p.R91Q|TRIM46_uc001fhq.2_RNA|TRIM46_uc001fhr.2_Missense_Mutation_p.R104Q|TRIM46_uc001fht.1_RNA|TRIM46_uc010pfa.1_Intron|TRIM46_uc001fhu.1_Missense_Mutation_p.R81Q|TRIM46_uc009wpg.1_Missense_Mutation_p.R91Q|TRIM46_uc009wpf.2_Missense_Mutation_p.R91Q|TRIM46_uc001fhv.3_Missense_Mutation_p.R91Q|TRIM46_uc001fhw.1_RNA	NM_025058	NP_079334	Q7Z4K8	TRI46_HUMAN	tripartite motif-containing 46	104						intracellular	zinc ion binding			ovary(1)|central_nervous_system(1)|skin(1)	3	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;6.62e-10)|all cancers(21;2.68e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			CGCCTGGACCGGCTGCTTAAG	0.642												
RAB25	57111	broad.mit.edu	37	1	156040014	156040014	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr1:156040014G>A	uc001fnc.2	+	5	804	c.578G>A	c.(577-579)GGC>GAC	p.G193D		NM_020387	NP_065120	P57735	RAB25_HUMAN	RAB25	193					positive regulation of cell proliferation|protein transport|pseudopodium organization|small GTPase mediated signal transduction	cytoplasmic membrane-bounded vesicle|pseudopodium membrane	GTP binding|identical protein binding				0	Hepatocellular(266;0.158)|all_neural(408;0.195)					ATCACTCTGGGCAGTGCCCAG	0.597												
SEMA4A	64218	broad.mit.edu	37	1	156146488	156146488	+	Missense_Mutation	SNP	G	G	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr1:156146488G>T	uc001fnl.2	+	15	2090	c.1986G>T	c.(1984-1986)AAG>AAT	p.K662N	SEMA4A_uc009wrq.2_Missense_Mutation_p.K662N|SEMA4A_uc001fnm.2_Missense_Mutation_p.K662N|SEMA4A_uc001fnn.2_Missense_Mutation_p.K530N|SEMA4A_uc001fno.2_Missense_Mutation_p.K662N	NM_022367	NP_071762	Q9H3S1	SEM4A_HUMAN	semaphorin B precursor	662	Extracellular (Potential).				axon guidance	integral to membrane|plasma membrane	receptor activity			ovary(1)|skin(1)	2	Hepatocellular(266;0.158)					AGCATGTGAAGGTCCCGTTGA	0.602												
SMG5	23381	broad.mit.edu	37	1	156230293	156230293	+	Silent	SNP	G	G	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr1:156230293G>A	uc001foc.3	-	15	2381	c.2232C>T	c.(2230-2232)CAC>CAT	p.H744H	SMG5_uc009wrv.2_Silent_p.H229H	NM_015327	NP_056142	Q9UPR3	SMG5_HUMAN	SMG5 homolog nonsense mediated mRNA decay	744					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)					TAAAGCGTCTGTGGGCAGCTC	0.532												
IQGAP3	128239	broad.mit.edu	37	1	156513774	156513774	+	Silent	SNP	T	T	C			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr1:156513774T>C	uc001fpf.2	-	22	2604	c.2529A>G	c.(2527-2529)TTA>TTG	p.L843L		NM_178229	NP_839943	Q86VI3	IQGA3_HUMAN	IQ motif containing GTPase activating protein 3	843	IQ 4.				small GTPase mediated signal transduction	intracellular	calmodulin binding|Ras GTPase activator activity			ovary(5)|skin(1)	6	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GCAGCTCACCTAATATCCTGT	0.532												
BCAN	63827	broad.mit.edu	37	1	156618552	156618552	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr1:156618552G>A	uc001fpp.2	+	6	1298	c.962G>A	c.(961-963)CGC>CAC	p.R321H	BCAN_uc001fpo.2_Missense_Mutation_p.R321H	NM_021948	NP_068767	Q96GW7	PGCB_HUMAN	brevican isoform 1	321	Link 2.				cell adhesion	anchored to membrane|proteinaceous extracellular matrix	hyaluronic acid binding|sugar binding			ovary(1)|pancreas(1)	2	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CCCAGCCAGCGCTGTGGTGGG	0.612												
OR10Z1	128368	broad.mit.edu	37	1	158576272	158576272	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr1:158576272T>C	uc010pio.1	+	1	44	c.44T>C	c.(43-45)CTG>CCG	p.L15P		NM_001004478	NP_001004478	Q8NGY1	O10Z1_HUMAN	olfactory receptor, family 10, subfamily Z,	15	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			pancreas(1)|skin(1)	2	all_hematologic(112;0.0378)					TTTGTCTTCCTGGGCTTCTCC	0.478												
OR10J3	441911	broad.mit.edu	37	1	159284423	159284423	+	Silent	SNP	C	C	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr1:159284423C>T	uc010piu.1	-	1	27	c.27G>A	c.(25-27)GTG>GTA	p.V9V		NM_001004467	NP_001004467	Q5JRS4	O10J3_HUMAN	olfactory receptor, family 10, subfamily J,	9	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2	all_hematologic(112;0.0429)					GGAACTCAGTCACAAAAGTGG	0.433												
SLAMF9	89886	broad.mit.edu	37	1	159923100	159923100	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr1:159923100G>C	uc001fus.2	-	2	507	c.390C>G	c.(388-390)TAC>TAG	p.Y130*	SLAMF9_uc009wtd.2_Nonsense_Mutation_p.Y130*|SLAMF9_uc001fut.2_Intron	NM_033438	NP_254273	Q96A28	SLAF9_HUMAN	SLAM family member 9 isoform 1	130	Extracellular (Potential).					integral to membrane				ovary(1)	1	all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TAAACTCACGGTAGACACATA	0.498												
PIGM	93183	broad.mit.edu	37	1	160001078	160001078	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr1:160001078G>A	uc001fuv.1	-	1	706	c.452C>T	c.(451-453)GCC>GTC	p.A151V		NM_145167	NP_660150	Q9H3S5	PIGM_HUMAN	phosphatidylinositol glycan anchor biosynthesis,	151	Helical; (Potential).				C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane				ovary(2)|skin(1)	3	all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GACCAGGGAGGCGACAATAGA	0.537												
ATP1A4	480	broad.mit.edu	37	1	160156137	160156137	+	Missense_Mutation	SNP	T	T	G			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr1:160156137T>G	uc001fve.3	+	21	3520	c.3041T>G	c.(3040-3042)CTC>CGC	p.L1014R	ATP1A4_uc001fvf.3_RNA|ATP1A4_uc001fvg.2_Missense_Mutation_p.L517R|ATP1A4_uc001fvh.2_Missense_Mutation_p.L150R	NM_144699	NP_653300	Q13733	AT1A4_HUMAN	Na+/K+ -ATPase alpha 4 subunit isoform 1	1014	Cytoplasmic (Potential).			ITWWLCAIPYSILIFVYDEIRKLLIRQ -> WSFALTAQAG VKWRILGLLQPLPPRFK (in Ref. 6; BAC05228).	ATP biosynthetic process|ATP hydrolysis coupled proton transport|regulation of cellular pH|sperm motility	sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			ovary(2)|skin(2)	4	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			AGAAAACTCCTCATCCGTCAG	0.562												
ARHGAP30	257106	broad.mit.edu	37	1	161019226	161019226	+	Silent	SNP	T	T	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr1:161019226T>A	uc001fxl.2	-	11	2020	c.1674A>T	c.(1672-1674)GGA>GGT	p.G558G	ARHGAP30_uc001fxk.2_Silent_p.G558G|ARHGAP30_uc001fxm.2_Silent_p.G404G|ARHGAP30_uc009wtx.2_Silent_p.G231G|ARHGAP30_uc001fxn.1_Silent_p.G404G	NM_001025598	NP_001020769	Q7Z6I6	RHG30_HUMAN	Rho GTPase activating protein 30 isoform 1	558					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			ovary(2)|upper_aerodigestive_tract(1)	3	all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)			GAGGCCCAACTCCCAGGAGCT	0.647												
NR1I3	9970	broad.mit.edu	37	1	161203117	161203117	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr1:161203117C>T	uc001fzx.2	-	4	453	c.250G>A	c.(250-252)GCA>ACA	p.A84T	TOMM40L_uc009wuf.1_Intron|NR1I3_uc001fzf.2_Missense_Mutation_p.A84T|NR1I3_uc001fzg.2_Missense_Mutation_p.A55T|NR1I3_uc001fzh.2_Missense_Mutation_p.A55T|NR1I3_uc001fzi.2_Missense_Mutation_p.A55T|NR1I3_uc001fzj.2_Missense_Mutation_p.A55T|NR1I3_uc001fzk.2_Missense_Mutation_p.A55T|NR1I3_uc001fzl.2_Missense_Mutation_p.A55T|NR1I3_uc001fzm.2_Missense_Mutation_p.A9T|NR1I3_uc001fzn.2_Intron|NR1I3_uc009wug.2_5'UTR|NR1I3_uc001fzp.2_Missense_Mutation_p.A84T|NR1I3_uc001fzo.2_Intron|NR1I3_uc001fzq.2_Intron|NR1I3_uc001fzr.2_Intron|NR1I3_uc001fzs.2_Intron|NR1I3_uc001fzt.2_Intron|NR1I3_uc001fzu.2_Intron|NR1I3_uc001fzv.2_Intron|NR1I3_uc001fzw.2_Missense_Mutation_p.A84T|NR1I3_uc001fzy.2_Missense_Mutation_p.A84T|NR1I3_uc001fzz.2_Missense_Mutation_p.A84T|NR1I3_uc001gaa.2_Missense_Mutation_p.A84T|NR1I3_uc001gab.2_Missense_Mutation_p.A84T|NR1I3_uc001gac.2_Missense_Mutation_p.A55T|NR1I3_uc010pkm.1_Missense_Mutation_p.A55T|NR1I3_uc010pkn.1_Missense_Mutation_p.A84T	NM_001077480	NP_001070948	Q14994	NR1I3_HUMAN	constitutive androstane receptor isoform 2	84					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	androgen receptor activity|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity|transcription coactivator activity|zinc ion binding			ovary(1)|skin(1)	2	all_cancers(52;1.86e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			AGGGCTTCTGCCGACAGTATC	0.582												
MPZ	4359	broad.mit.edu	37	1	161276654	161276654	+	Missense_Mutation	SNP	G	G	A	rs121913590		TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr1:161276654G>A	uc001gaf.3	-	3	359	c.322C>T	c.(322-324)CGC>TGC	p.R108C	MPZ_uc010pko.1_RNA	NM_000530	NP_000521	P25189	MYP0_HUMAN	myelin protein zero	98	Ig-like V-type.|Extracellular (Potential).		R -> P (in CMT1B).|R -> C (in CMT1B; severe and DSS).|R -> H (in CMT1B).|R -> S (in CMT1B).		synaptic transmission	integral to plasma membrane	structural molecule activity			ovary(2)|central_nervous_system(1)|pancreas(1)	4	all_cancers(52;6.96e-17)|all_hematologic(112;0.093)	Breast(1374;0.181)	BRCA - Breast invasive adenocarcinoma(70;0.00376)			CACTGGATGCGCTCTTTGAAG	0.507												
FCRLA	84824	broad.mit.edu	37	1	161681777	161681777	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr1:161681777G>T	uc001gbe.2	+	5	864	c.622G>T	c.(622-624)GGA>TGA	p.G208*	FCRLA_uc001gbd.2_Nonsense_Mutation_p.G202*|FCRLA_uc001gbf.2_Nonsense_Mutation_p.G113*|FCRLA_uc001gbg.2_Nonsense_Mutation_p.G62*|FCRLA_uc009wuo.2_Nonsense_Mutation_p.G68*|FCRLA_uc009wup.2_Intron|FCRLA_uc009wuq.2_Intron	NM_032738	NP_116127	Q7L513	FCRLA_HUMAN	Fc receptor-like and mucin-like 1	185	Ig-like C2-type 2.				cell differentiation	cytoplasm|extracellular region					0	all_cancers(52;2.55e-15)|all_hematologic(112;0.0359)		BRCA - Breast invasive adenocarcinoma(70;0.00301)			ACCCCAAGCAGGAAGCCCCAT	0.517												
OLFML2B	25903	broad.mit.edu	37	1	161989931	161989931	+	Silent	SNP	G	G	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr1:161989931G>A	uc001gbu.2	-	2	640	c.216C>T	c.(214-216)GGC>GGT	p.G72G	OLFML2B_uc010pkq.1_Silent_p.G72G	NM_015441	NP_056256	Q68BL8	OLM2B_HUMAN	olfactomedin-like 2B precursor	72										skin(1)	1	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.0172)			GACAGTCCGAGCCCTCAGACA	0.572												
SLC9A11	284525	broad.mit.edu	37	1	173551081	173551081	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr1:173551081G>A	uc001giz.2	-	7	1130	c.707C>T	c.(706-708)GCA>GTA	p.A236V	SLC9A11_uc010pmq.1_RNA	NM_178527	NP_848622	Q5TAH2	S9A11_HUMAN	solute carrier family 9, member 11	236	Helical; (Potential).				sodium ion transport	integral to membrane	ion channel activity|solute:hydrogen antiporter activity			ovary(2)	2						AATGATTTTTGCACACCAATA	0.299												
PAPPA2	60676	broad.mit.edu	37	1	176640157	176640157	+	Silent	SNP	T	T	C			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr1:176640157T>C	uc001gkz.2	+	4	3207	c.2043T>C	c.(2041-2043)ACT>ACC	p.T681T	PAPPA2_uc001gky.1_Silent_p.T681T|PAPPA2_uc009www.2_RNA	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	pappalysin 2 isoform 1	681	Metalloprotease.				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			ovary(7)|central_nervous_system(5)|skin(2)|lung(1)|breast(1)	16						TGAACAGTACTCACTTCCTCA	0.512												
QSOX1	5768	broad.mit.edu	37	1	180165497	180165497	+	Silent	SNP	C	C	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr1:180165497C>T	uc001gnz.2	+	12	1644	c.1569C>T	c.(1567-1569)GAC>GAT	p.D523D	QSOX1_uc001gny.2_Silent_p.D523D|QSOX1_uc001goa.2_Silent_p.D523D|QSOX1_uc001goc.2_Silent_p.D65D|FLJ23867_uc001god.3_5'Flank	NM_002826	NP_002817	O00391	QSOX1_HUMAN	quiescin Q6 sulfhydryl oxidase 1 isoform a	523					cell redox homeostasis|protein thiol-disulfide exchange	extracellular space|integral to Golgi membrane	flavin-linked sulfhydryl oxidase activity			ovary(1)|central_nervous_system(1)	2						CCGTGTGGGACGTGGAAGCCA	0.622												
ACBD6	84320	broad.mit.edu	37	1	180471273	180471273	+	Silent	SNP	G	G	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr1:180471273G>A	uc001gog.2	-	1	750	c.129C>T	c.(127-129)GCC>GCT	p.A43A		NM_032360	NP_115736	Q9BR61	ACBD6_HUMAN	acyl-coenzyme A binding domain containing 6	43	ACB.					cytoplasm|nucleus	fatty-acyl-CoA binding			ovary(1)	1						CAAACAGCTCGGCCAGGCAAC	0.612												
STX6	10228	broad.mit.edu	37	1	180945780	180945780	+	Missense_Mutation	SNP	G	G	A	rs114031596	byFrequency	TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr1:180945780G>A	uc010pnq.1	-	8	931	c.694C>T	c.(694-696)CGG>TGG	p.R232W	STX6_uc009wxo.1_5'Flank|STX6_uc001goo.2_Missense_Mutation_p.R232W|STX6_uc010pnr.1_Missense_Mutation_p.R131W	NM_005819	NP_005810	O43752	STX6_HUMAN	syntaxin 6	232	Cytoplasmic (Potential).				Golgi vesicle transport|intracellular protein transport|vesicle fusion	clathrin-coated vesicle|early endosome|integral to membrane|perinuclear region of cytoplasm|plasma membrane|trans-Golgi network membrane	SNAP receptor activity			ovary(1)	1						CATTGGCGCCGATCTGGAAGG	0.532												
CACNA1E	777	broad.mit.edu	37	1	181453073	181453073	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr1:181453073G>A	uc001gow.2	+	1	358	c.193G>A	c.(193-195)GTC>ATC	p.V65I		NM_000721	NP_000712	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type,	65	Cytoplasmic (Potential).				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			ovary(3)|central_nervous_system(2)|pancreas(1)	6						CTGTTTCACCGTCAACAGATC	0.537												
CACNA1E	777	broad.mit.edu	37	1	181767624	181767624	+	Missense_Mutation	SNP	C	C	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr1:181767624C>A	uc001gow.2	+	47	6632	c.6467C>A	c.(6466-6468)GCT>GAT	p.A2156D	CACNA1E_uc009wxs.2_Missense_Mutation_p.A2044D|CACNA1E_uc009wxt.2_Missense_Mutation_p.A1425D	NM_000721	NP_000712	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type,	2199	Cytoplasmic (Potential).				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			ovary(3)|central_nervous_system(2)|pancreas(1)	6						ACCTCCCAAGCTCTGGAGAGC	0.632												
ZNF648	127665	broad.mit.edu	37	1	182026561	182026561	+	Silent	SNP	C	C	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr1:182026561C>T	uc001goz.2	-	2	793	c.585G>A	c.(583-585)CCG>CCA	p.P195P		NM_001009992	NP_001009992	Q5T619	ZN648_HUMAN	zinc finger protein 648	195					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						AGTTGCTCCCCGGCCTGGGGA	0.612												
RNASEL	6041	broad.mit.edu	37	1	182555115	182555115	+	Missense_Mutation	SNP	G	G	T	rs145415894		TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr1:182555115G>T	uc001gpj.1	-	1	994	c.827C>A	c.(826-828)GCA>GAA	p.A276E	RNASEL_uc009wxz.1_Missense_Mutation_p.A276E|RNASEL_uc001gpk.2_Missense_Mutation_p.A276E|RNASEL_uc009wya.1_Missense_Mutation_p.A276E	NM_021133	NP_066956	Q05823	RN5A_HUMAN	ribonuclease L	276	ANK 8.				mRNA processing|response to virus|type I interferon-mediated signaling pathway	mitochondrion	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|metal ion binding|protein kinase activity|RNA binding			ovary(4)|stomach(1)	5						AAGCAGCAGTGCTGTTTTGCC	0.493									Hereditary_Prostate_Cancer			
EDEM3	80267	broad.mit.edu	37	1	184677410	184677410	+	Silent	SNP	C	C	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr1:184677410C>T	uc010pok.1	-	17	2175	c.1914G>A	c.(1912-1914)CAG>CAA	p.Q638Q	EDEM3_uc010pol.1_RNA|EDEM3_uc010pom.1_Silent_p.Q638Q	NM_025191	NP_079467	Q9BZQ6	EDEM3_HUMAN	ER degradation enhancer, mannosidase alpha-like	638					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein	endoplasmic reticulum lumen|endoplasmic reticulum membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding			skin(1)	1						CTTTTTGTTGCTGACTTGACA	0.443												
F13B	2165	broad.mit.edu	37	1	197026436	197026436	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr1:197026436G>A	uc001gtt.1	-	6	1009	c.965C>T	c.(964-966)ACA>ATA	p.T322I		NM_001994	NP_001985	P05160	F13B_HUMAN	coagulation factor XIII B subunit precursor	322	Sushi 5.				blood coagulation	extracellular region				upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	3						TGGAGGTTCTGTCCATTTTCC	0.368												
KLHL12	59349	broad.mit.edu	37	1	202894140	202894140	+	Silent	SNP	G	G	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr1:202894140G>A	uc001gyo.1	-	2	351	c.151C>T	c.(151-153)CTG>TTG	p.L51L	KLHL12_uc010pqc.1_Silent_p.L89L|KLHL12_uc009xah.1_Silent_p.L51L	NM_021633	NP_067646	Q53G59	KLH12_HUMAN	kelch-like 12	51	BTB.				Wnt receptor signaling pathway		protein binding				0			BRCA - Breast invasive adenocarcinoma(75;0.166)			CAGGCAGCCAGCACAATCCGA	0.458												
ADORA1	134	broad.mit.edu	37	1	203098114	203098114	+	Missense_Mutation	SNP	G	G	A	rs2275349		TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr1:203098114G>A	uc001gze.1	+	3	578	c.145G>A	c.(145-147)GTG>ATG	p.V49M	ADORA1_uc001gzf.1_Missense_Mutation_p.V49M|ADORA1_uc010pqg.1_Translation_Start_Site|ADORA1_uc009xak.1_Translation_Start_Site|ADORA1_uc010pqh.1_Missense_Mutation_p.V82M	NM_000674	NP_000665	P30542	AA1R_HUMAN	adenosine A1 receptor	49	Helical; Name=2; (Potential).				induction of apoptosis by extracellular signals|inflammatory response|nervous system development|phagocytosis	integral to plasma membrane				large_intestine(1)	1					Aminophylline(DB01223)|Caffeine(DB00201)|Defibrotide(DB04932)|Gabapentin(DB00996)|Imipramine(DB00458)|Pegademase bovine(DB00061)|Theophylline(DB00277)	CTGCTTCATCGTGTCGCTGGC	0.632												
FMOD	2331	broad.mit.edu	37	1	203316578	203316578	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr1:203316578C>T	uc001gzr.2	-	2	957	c.821G>A	c.(820-822)CGG>CAG	p.R274Q	FMOD_uc010pqi.1_RNA	NM_002023	NP_002014	Q06828	FMOD_HUMAN	fibromodulin precursor	274	LRR 8.				transforming growth factor beta receptor complex assembly	extracellular space|proteinaceous extracellular matrix				ovary(2)|breast(1)	3			BRCA - Breast invasive adenocarcinoma(75;0.171)			GTGGGACAGCCGCACATACAG	0.572												
REN	5972	broad.mit.edu	37	1	204131189	204131189	+	Silent	SNP	C	C	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr1:204131189C>T	uc001haq.2	-	2	245	c.201G>A	c.(199-201)CTG>CTA	p.L67L		NM_000537	NP_000528	P00797	RENI_HUMAN	renin preproprotein	67					angiotensin maturation|regulation of MAPKKK cascade	extracellular space|membrane	aspartic-type endopeptidase activity			skin(3)|central_nervous_system(1)	4	all_cancers(21;0.00965)|Breast(84;0.116)|all_epithelial(62;0.157)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)		Aliskiren(DB01258)|Remikiren(DB00212)	TGCCAAGTGTCAGCCTCTTCA	0.577												
NFASC	23114	broad.mit.edu	37	1	204948583	204948583	+	Missense_Mutation	SNP	G	G	A	rs151110151	byFrequency	TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr1:204948583G>A	uc001hbj.2	+	19	2400	c.2072G>A	c.(2071-2073)CGG>CAG	p.R691Q	NFASC_uc010pra.1_Missense_Mutation_p.R687Q|NFASC_uc001hbi.2_Missense_Mutation_p.R687Q|NFASC_uc010prb.1_Missense_Mutation_p.R702Q|NFASC_uc010prc.1_Missense_Mutation_p.R258Q|NFASC_uc001hbk.1_Missense_Mutation_p.R497Q|NFASC_uc001hbl.1_5'Flank	NM_001005388	NP_001005388	O94856	NFASC_HUMAN	neurofascin isoform 1 precursor	691	Extracellular (Potential).|Fibronectin type-III 1.				axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding			ovary(3)|breast(1)|central_nervous_system(1)|skin(1)	6	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			GCCGTCCTCCGGCTGTCCCCG	0.582												
CNTN2	6900	broad.mit.edu	37	1	205034993	205034993	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr1:205034993C>T	uc001hbr.2	+	14	2041	c.1772C>T	c.(1771-1773)ACG>ATG	p.T591M	CNTN2_uc001hbq.1_Missense_Mutation_p.T482M|CNTN2_uc001hbs.2_Missense_Mutation_p.T379M	NM_005076	NP_005067	Q02246	CNTN2_HUMAN	contactin 2 precursor	591	Ig-like C2-type 6.				axon guidance|clustering of voltage-gated potassium channels	anchored to membrane|juxtaparanode region of axon|myelin sheath|node of Ranvier|synapse part	identical protein binding			ovary(1)	1	all_cancers(21;0.144)|Breast(84;0.0437)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			ATGGCCCAGACGGTGGTGGAC	0.627												
CR1	1378	broad.mit.edu	37	1	207753935	207753935	+	Missense_Mutation	SNP	G	G	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr1:207753935G>T	uc001hfy.2	+	23	3983	c.3843G>T	c.(3841-3843)AAG>AAT	p.K1281N	CR1_uc009xcl.1_Missense_Mutation_p.K831N|CR1_uc001hfx.2_Missense_Mutation_p.K1731N	NM_000573	NP_000564	P17927	CR1_HUMAN	complement receptor 1 isoform F precursor	1281	Sushi 20.|Extracellular (Potential).				complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity			ovary(3)	3						TTGGGGCAAAGGTGTCCTTTG	0.433												
CR1	1378	broad.mit.edu	37	1	207785031	207785031	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr1:207785031C>T	uc001hfy.2	+	30	5095	c.4955C>T	c.(4954-4956)CCG>CTG	p.P1652L	CR1_uc001hfx.2_Missense_Mutation_p.P2102L	NM_000573	NP_000564	P17927	CR1_HUMAN	complement receptor 1 isoform F precursor	1652	Sushi 26.|Extracellular (Potential).				complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity			ovary(3)	3						GTGTGTCAGCCGCCTCCAGAA	0.478												
LAMB3	3914	broad.mit.edu	37	1	209799235	209799235	+	Silent	SNP	G	G	A	rs138710333		TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr1:209799235G>A	uc001hhg.2	-	13	2124	c.1734C>T	c.(1732-1734)TGC>TGT	p.C578C	LAMB3_uc009xco.2_Silent_p.C578C|LAMB3_uc001hhh.2_Silent_p.C578C|LAMB3_uc010psl.1_Intron|hsa-mir-4260|MI0015859_5'Flank	NM_001017402	NP_001017402	Q13751	LAMB3_HUMAN	laminin, beta 3 precursor	578	Laminin EGF-like 6.				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)		GGCAGGCCACGCACACCGGGT	0.667												
RPS6KC1	26750	broad.mit.edu	37	1	213414588	213414588	+	Missense_Mutation	SNP	T	T	G			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr1:213414588T>G	uc010ptr.1	+	11	1928	c.1769T>G	c.(1768-1770)CTC>CGC	p.L590R	RPS6KC1_uc001hkd.2_Missense_Mutation_p.L578R|RPS6KC1_uc010pts.1_Missense_Mutation_p.L378R|RPS6KC1_uc010ptt.1_Missense_Mutation_p.L378R|RPS6KC1_uc010ptu.1_Missense_Mutation_p.L409R|RPS6KC1_uc010ptv.1_Missense_Mutation_p.L125R|RPS6KC1_uc001hke.2_Missense_Mutation_p.L409R	NM_012424	NP_036556	Q96S38	KS6C1_HUMAN	ribosomal protein S6 kinase, 52kDa, polypeptide	590					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)		TCAGATTCCCTCAGTAGATCA	0.458												
EPRS	2058	broad.mit.edu	37	1	220145457	220145457	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr1:220145457A>G	uc001hly.1	-	30	4547	c.4277T>C	c.(4276-4278)GTG>GCG	p.V1426A		NM_004446	NP_004437	P07814	SYEP_HUMAN	glutamyl-prolyl tRNA synthetase	1426	Prolyl-tRNA synthetase.				glutamyl-tRNA aminoacylation|prolyl-tRNA aminoacylation|protein complex assembly	cytosol|soluble fraction	ATP binding|glutamate-tRNA ligase activity|proline-tRNA ligase activity|protein binding|RNA binding			ovary(1)|skin(1)	2				GBM - Glioblastoma multiforme(131;0.0735)	L-Glutamic Acid(DB00142)|L-Proline(DB00172)	TGTATTAGCCACAACCATATG	0.303												
BPNT1	10380	broad.mit.edu	37	1	220246279	220246279	+	Silent	SNP	C	C	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr1:220246279C>A	uc001hma.2	-	4	418	c.246G>T	c.(244-246)GTG>GTT	p.V82V	BPNT1_uc010pug.1_Silent_p.V27V|BPNT1_uc010puh.1_Intron|BPNT1_uc001hmb.3_Silent_p.V82V	NM_006085	NP_006076	O95861	BPNT1_HUMAN	3'(2'), 5'-bisphosphate nucleotidase 1	82					3'-phosphoadenosine 5'-phosphosulfate metabolic process|nervous system development|xenobiotic metabolic process	cytosol	3'(2'),5'-bisphosphate nucleotidase activity			ovary(1)	1				GBM - Glioblastoma multiforme(131;0.0558)		GCTCTTGATCCACTTCCTCAG	0.403												
TP53BP2	7159	broad.mit.edu	37	1	223986208	223986208	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr1:223986208C>T	uc010pvb.1	-	12	1949	c.1657G>A	c.(1657-1659)GCA>ACA	p.A553T	TP53BP2_uc001hod.2_Missense_Mutation_p.A424T|TP53BP2_uc010puz.1_Intron|TP53BP2_uc010pva.1_Missense_Mutation_p.A192T	NM_001031685	NP_001026855	Q13625	ASPP2_HUMAN	tumor protein p53 binding protein, 2 isoform 1	547					apoptosis|cell cycle|induction of apoptosis|negative regulation of cell cycle|signal transduction	nucleus|perinuclear region of cytoplasm	NF-kappaB binding|protein binding|SH3 domain binding|SH3/SH2 adaptor activity			ovary(2)|lung(1)	3				GBM - Glioblastoma multiforme(131;0.0958)		TGCTGCCCTGCTGGTTTTGGT	0.507												
TMEM63A	9725	broad.mit.edu	37	1	226048598	226048598	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr1:226048598C>T	uc001hpm.1	-	14	1435	c.1185G>A	c.(1183-1185)TGG>TGA	p.W395*		NM_014698	NP_055513	O94886	TM63A_HUMAN	transmembrane protein 63A	395						integral to membrane|lysosomal membrane	nucleotide binding			ovary(1)|breast(1)	2	Breast(184;0.197)					AGGTGACTGTCCACTTGGAGG	0.567												
PSEN2	5664	broad.mit.edu	37	1	227079049	227079049	+	Silent	SNP	C	C	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr1:227079049C>T	uc009xeo.1	+	10	1384	c.957C>T	c.(955-957)TAC>TAT	p.Y319Y	PSEN2_uc009xep.1_Silent_p.Y319Y|PSEN2_uc001hqk.2_RNA	NM_000447	NP_000438	P49810	PSN2_HUMAN	presenilin 2 isoform 1	319	Cytoplasmic (Potential).				amyloid precursor protein catabolic process|anti-apoptosis|apoptosis|beta-amyloid metabolic process|calcium ion transport|induction of apoptosis by extracellular signals|intracellular signal transduction|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	apical plasma membrane|axon|cell cortex|cell surface|centrosome|ciliary rootlet|dendritic shaft|endoplasmic reticulum membrane|Golgi membrane|growth cone|integral to plasma membrane|kinetochore|lysosomal membrane|membrane raft|mitochondrial inner membrane|neuromuscular junction|neuronal cell body|nuclear inner membrane|perinuclear region of cytoplasm|Z disc	aspartic-type endopeptidase activity|protein binding			lung(2)	2		Prostate(94;0.0771)				AGCTCCCCTACGACCCGGAGA	0.627												
OBSCN	84033	broad.mit.edu	37	1	228494756	228494756	+	Silent	SNP	G	G	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr1:228494756G>A	uc009xez.1	+	45	12125	c.12081G>A	c.(12079-12081)GTG>GTA	p.V4027V	OBSCN_uc001hsn.2_Silent_p.V4027V	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and	4027	Ig-like 41.				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)				ACCAGATGGTGCAGGATGGTG	0.647												
TRIM67	440730	broad.mit.edu	37	1	231349596	231349596	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr1:231349596G>A	uc009xfn.1	+	9	2201	c.2159G>A	c.(2158-2160)GGC>GAC	p.G720D		NM_001004342	NP_001004342	Q6ZTA4	TRI67_HUMAN	tripartite motif-containing 67	720	B30.2/SPRY.					cytoplasm|cytoskeleton	zinc ion binding			ovary(2)|breast(1)|kidney(1)	4	Breast(184;0.0871)	all_cancers(173;0.189)|Prostate(94;0.167)				GCCACCGTGGGCGTGCTGCTG	0.612												
PCNXL2	80003	broad.mit.edu	37	1	233134036	233134036	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr1:233134036G>A	uc001hvl.2	-	32	5987	c.5752C>T	c.(5752-5754)CAG>TAG	p.Q1918*	PCNXL2_uc001hvk.1_Nonsense_Mutation_p.Q570*|PCNXL2_uc001hvm.1_RNA	NM_014801	NP_055616	A6NKB5	PCX2_HUMAN	pecanex-like 2	1918						integral to membrane				central_nervous_system(1)|pancreas(1)	2		all_cancers(173;0.0347)|Prostate(94;0.137)				ACCCCGTGCTGAGCACCGCCT	0.607												
TARBP1	6894	broad.mit.edu	37	1	234601428	234601428	+	Silent	SNP	C	C	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr1:234601428C>T	uc001hwd.2	-	5	1275	c.1275G>A	c.(1273-1275)GCG>GCA	p.A425A		NM_005646	NP_005637	Q13395	TARB1_HUMAN	TAR RNA binding protein 1	425					regulation of transcription from RNA polymerase II promoter|RNA processing	nucleus	RNA binding|RNA methyltransferase activity			ovary(2)|skin(1)	3	Ovarian(103;0.0339)	all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172)	OV - Ovarian serous cystadenocarcinoma(106;0.000263)			TCTCTGAAAGCGCATCCATTA	0.299												
B3GALNT2	148789	broad.mit.edu	37	1	235634232	235634232	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr1:235634232C>T	uc001hxc.2	-	6	923	c.694G>A	c.(694-696)GGC>AGC	p.G232S	B3GALNT2_uc001hxd.1_Missense_Mutation_p.G273S	NM_152490	NP_689703	Q8NCR0	B3GL2_HUMAN	beta-1,3-N-acetylgalactosaminyltransferase 2	232	Lumenal (Potential).				protein glycosylation	Golgi membrane|integral to membrane	galactosyltransferase activity			breast(1)	1	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.0539)|Prostate(94;0.0353)	OV - Ovarian serous cystadenocarcinoma(106;0.000117)			GACACAAGGCCGTGGAGGTCT	0.393												
RYR2	6262	broad.mit.edu	37	1	237729972	237729972	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr1:237729972C>T	uc001hyl.1	+	28	3440	c.3320C>T	c.(3319-3321)ACG>ATG	p.T1107M		NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	1107	Cytoplasmic (By similarity).|4 X approximate repeats.|B30.2/SPRY 2.				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)			GAATTTGAGACGGTCACTGCT	0.552												
FMN2	56776	broad.mit.edu	37	1	240370965	240370965	+	Silent	SNP	G	G	A	rs146070457		TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr1:240370965G>A	uc010pyd.1	+	5	3078	c.2853G>A	c.(2851-2853)GCG>GCA	p.A951A	FMN2_uc010pye.1_Silent_p.A955A	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	formin 2	951	Pro-rich.|FH1.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			ovary(4)|pancreas(3)|skin(3)|large_intestine(1)|central_nervous_system(1)	12	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			TACCCGGAGCGGCAATACCCC	0.697												
ZNF669	79862	broad.mit.edu	37	1	247263838	247263838	+	Silent	SNP	A	A	G			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr1:247263838A>G	uc001ice.2	-	4	1406	c.1233T>C	c.(1231-1233)ATT>ATC	p.I411I	ZNF669_uc001icf.2_Silent_p.I325I	NM_024804	NP_079080	Q96BR6	ZN669_HUMAN	zinc finger protein 669 isoform 1	411	C2H2-type 8.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	all_cancers(71;4.09e-05)|all_epithelial(71;6.72e-06)|Breast(184;0.0226)|Ovarian(71;0.0283)|all_lung(81;0.0488)|Lung NSC(105;0.053)		OV - Ovarian serous cystadenocarcinoma(106;0.00427)			CTCCAGTATGAATTCTTTCGT	0.413												
CACNB2	783	broad.mit.edu	37	10	18828201	18828201	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr10:18828201C>T	uc001ipr.2	+	14	1591	c.1531C>T	c.(1531-1533)CGT>TGT	p.R511C	CACNB2_uc009xjz.1_Missense_Mutation_p.R261C|CACNB2_uc001ips.2_Missense_Mutation_p.R487C|CACNB2_uc001ipt.2_Missense_Mutation_p.R473C|CACNB2_uc001ipu.2_Missense_Mutation_p.R483C|CACNB2_uc001ipv.2_Missense_Mutation_p.R459C|CACNB2_uc009xka.1_Missense_Mutation_p.R445C|CACNB2_uc001ipw.2_Missense_Mutation_p.R418C|CACNB2_uc001ipx.2_Missense_Mutation_p.R456C|CACNB2_uc001ipz.2_Missense_Mutation_p.R433C|CACNB2_uc001ipy.2_Missense_Mutation_p.R457C|CACNB2_uc010qco.1_Missense_Mutation_p.R425C|CACNB2_uc001iqa.2_Missense_Mutation_p.R463C|NSUN6_uc001iqb.2_RNA	NM_201596	NP_963890	Q08289	CACB2_HUMAN	calcium channel, voltage-dependent, beta 2	511					axon guidance|neuromuscular junction development	integral to plasma membrane|sarcolemma|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			large_intestine(1)|central_nervous_system(1)|skin(1)	3					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	CGCTCCTATCCGTTCTGCTTC	0.542												
CACNB2	783	broad.mit.edu	37	10	18828645	18828645	+	Missense_Mutation	SNP	C	C	T	rs77141223	byFrequency	TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr10:18828645C>T	uc001ipr.2	+	14	2035	c.1975C>T	c.(1975-1977)CGC>TGC	p.R659C	CACNB2_uc009xjz.1_Missense_Mutation_p.R409C|CACNB2_uc001ips.2_Missense_Mutation_p.R635C|CACNB2_uc001ipt.2_Missense_Mutation_p.R621C|CACNB2_uc001ipu.2_Missense_Mutation_p.R631C|CACNB2_uc001ipv.2_Missense_Mutation_p.R607C|CACNB2_uc009xka.1_Missense_Mutation_p.R593C|CACNB2_uc001ipw.2_Missense_Mutation_p.R566C|CACNB2_uc001ipx.2_Missense_Mutation_p.R604C|CACNB2_uc001ipz.2_Missense_Mutation_p.R581C|CACNB2_uc001ipy.2_Missense_Mutation_p.R605C|CACNB2_uc010qco.1_Missense_Mutation_p.R573C|CACNB2_uc001iqa.2_Missense_Mutation_p.R611C|NSUN6_uc001iqb.2_Intron	NM_201596	NP_963890	Q08289	CACB2_HUMAN	calcium channel, voltage-dependent, beta 2	659				R -> P (in Ref. 2; AAB53332, 5; AAG01473/ AAL16948/AAL16951/AAL16950 and 6; AAL73495).	axon guidance|neuromuscular junction development	integral to plasma membrane|sarcolemma|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			large_intestine(1)|central_nervous_system(1)|skin(1)	3					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	TGTTTACATCCGCCAATGAGT	0.408												
GPR158	57512	broad.mit.edu	37	10	25887199	25887199	+	Missense_Mutation	SNP	G	G	A	rs141827771	byFrequency	TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr10:25887199G>A	uc001isj.2	+	11	2704	c.2644G>A	c.(2644-2646)GCT>ACT	p.A882T	GPR158_uc001isk.2_Missense_Mutation_p.A257T	NM_020752	NP_065803	Q5T848	GP158_HUMAN	G protein-coupled receptor 158 precursor	882	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(4)|large_intestine(2)|pancreas(1)|skin(1)	8						GTCAGCAAGCGCTCACAACCT	0.502												
PTCHD3	374308	broad.mit.edu	37	10	27692254	27692254	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr10:27692254G>A	uc001itu.2	-	3	1362	c.1244C>T	c.(1243-1245)GCG>GTG	p.A415V		NM_001034842	NP_001030014	Q3KNS1	PTHD3_HUMAN	patched domain containing 3	415	SSD.				spermatid development	integral to membrane	hedgehog receptor activity			ovary(2)|pancreas(1)|skin(1)	4						TCCAAAGGCCGCAACACACAT	0.438												
PTCHD3	374308	broad.mit.edu	37	10	27702568	27702568	+	Silent	SNP	G	G	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr10:27702568G>A	uc001itu.2	-	1	730	c.612C>T	c.(610-612)ACC>ACT	p.T204T		NM_001034842	NP_001030014	Q3KNS1	PTHD3_HUMAN	patched domain containing 3	204					spermatid development	integral to membrane	hedgehog receptor activity			ovary(2)|pancreas(1)|skin(1)	4						AATTGGCTTCGGTGCTCCTCC	0.632												
PARD3	56288	broad.mit.edu	37	10	34408562	34408562	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr10:34408562C>T	uc010qej.1	-	24	3656	c.3656G>A	c.(3655-3657)CGC>CAC	p.R1219H	PARD3_uc010qek.1_Missense_Mutation_p.R1216H|PARD3_uc010qel.1_Missense_Mutation_p.R1182H|PARD3_uc010qem.1_Missense_Mutation_p.R1203H|PARD3_uc010qen.1_Missense_Mutation_p.R1173H|PARD3_uc010qeo.1_Missense_Mutation_p.R1136H|PARD3_uc010qep.1_Missense_Mutation_p.R1129H|PARD3_uc010qeq.1_Missense_Mutation_p.R1107H	NM_019619	NP_062565	Q8TEW0	PARD3_HUMAN	partitioning-defective protein 3 homolog	1219	Potential.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|asymmetric cell division|axonogenesis|cell cycle|establishment of epithelial cell polarity|protein complex assembly|protein targeting to membrane|tight junction assembly	cell cortex|cytoskeleton|cytosol|endomembrane system|tight junction	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding			ovary(1)	1		Breast(68;0.0707)				GCTGTACTGGCGCTGGGCCTG	0.692												
FZD8	8325	broad.mit.edu	37	10	35929176	35929176	+	Silent	SNP	C	C	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr10:35929176C>T	uc001iyz.1	-	1	1187	c.1182G>A	c.(1180-1182)GCG>GCA	p.A394A		NM_031866	NP_114072	Q9H461	FZD8_HUMAN	frizzled 8 precursor	394	Extracellular (Potential).				axonogenesis|brain development|canonical Wnt receptor signaling pathway|embryo development|gonad development|T cell differentiation in thymus|vasculature development	cell projection|Golgi apparatus|integral to membrane|plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding				0						CGGTGCACAGCGCGGGGCCGG	0.502												
RET	5979	broad.mit.edu	37	10	43598065	43598065	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr10:43598065A>G	uc001jal.2	+	3	803	c.613A>G	c.(613-615)AGG>GGG	p.R205G	RET_uc001jak.1_Missense_Mutation_p.R205G|RET_uc010qez.1_5'Flank	NM_020975	NP_066124	P07949	RET_HUMAN	ret proto-oncogene isoform a	205	Cadherin.|Extracellular (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			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)	CGTGGCCTACAGGCTCCTGGA	0.627		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			
RET	5979	broad.mit.edu	37	10	43620416	43620416	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr10:43620416A>G	uc001jal.2	+	18	3215	c.3025A>G	c.(3025-3027)ATG>GTG	p.M1009V	RET_uc001jak.1_Missense_Mutation_p.M1009V|RET_uc010qez.1_Missense_Mutation_p.M755V	NM_020975	NP_066124	P07949	RET_HUMAN	ret proto-oncogene isoform a	1009	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			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)	GGAGAAGATGATGGTTAAGAG	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			
ZNF32	7580	broad.mit.edu	37	10	44139887	44139887	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr10:44139887G>A	uc001jbb.2	-	3	622	c.433C>T	c.(433-435)CGA>TGA	p.R145*	uc001jba.2_Intron|ZNF32_uc001jbc.2_Nonsense_Mutation_p.R145*	NM_001005368	NP_001005368	P17041	ZNF32_HUMAN	zinc finger protein 32	145	C2H2-type 3.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			ovary(1)	1		all_neural(218;0.0182)|Ovarian(717;0.0443)|Renal(717;0.157)		Lung(62;0.179)		AGACTACCTCGTTGACTGAAG	0.483												
RASSF4	83937	broad.mit.edu	37	10	45478096	45478096	+	Missense_Mutation	SNP	G	G	A	rs145855403	byFrequency	TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr10:45478096G>A	uc001jbo.2	+	4	400	c.266G>A	c.(265-267)CGG>CAG	p.R89Q	RASSF4_uc001jbp.2_Missense_Mutation_p.R120Q|RASSF4_uc009xmn.2_Missense_Mutation_p.R19Q|RASSF4_uc001jbq.2_Missense_Mutation_p.G17S|RASSF4_uc001jbt.2_Missense_Mutation_p.R19Q	NM_032023	NP_114412	Q9H2L5	RASF4_HUMAN	Ras association domain family 4	89					cell cycle|signal transduction		protein binding			large_intestine(1)	1						ATGCCCAGACGGCCTAGCTGC	0.657												
OR13A1	79290	broad.mit.edu	37	10	45799648	45799648	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr10:45799648C>T	uc001jcc.1	-	4	532	c.223G>A	c.(223-225)GCT>ACT	p.A75T	OR13A1_uc001jcd.1_Missense_Mutation_p.A71T	NM_001004297	NP_001004297	Q8NGR1	O13A1_HUMAN	olfactory receptor, family 13, subfamily A,	75	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0						TACATAGGAGCGTGGAGCCCA	0.522												
ANK3	288	broad.mit.edu	37	10	61829489	61829489	+	Missense_Mutation	SNP	T	T	G			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr10:61829489T>G	uc001jky.2	-	37	11342	c.11150A>C	c.(11149-11151)AAG>ACG	p.K3717T	ANK3_uc001jkw.2_Intron|ANK3_uc009xpa.2_Intron|ANK3_uc001jkx.2_Intron|ANK3_uc010qih.1_Intron|ANK3_uc001jkz.3_Intron|ANK3_uc001jkv.2_Intron|ANK3_uc009xpb.1_Intron	NM_020987	NP_066267	Q12955	ANK3_HUMAN	ankyrin 3 isoform 1	3717					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			skin(9)|ovary(6)|pancreas(2)|central_nervous_system(2)	19						CGTGCGCAACTTGGGGTCAAC	0.507												
ANK3	288	broad.mit.edu	37	10	61836200	61836200	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr10:61836200C>T	uc001jky.2	-	37	4631	c.4439G>A	c.(4438-4440)CGG>CAG	p.R1480Q	ANK3_uc001jkw.2_Intron|ANK3_uc009xpa.2_Intron|ANK3_uc001jkx.2_Intron|ANK3_uc010qih.1_Intron|ANK3_uc001jkz.3_Intron|ANK3_uc001jkv.2_Intron|ANK3_uc009xpb.1_Intron|ANK3_uc009xpc.1_RNA	NM_020987	NP_066267	Q12955	ANK3_HUMAN	ankyrin 3 isoform 1	1480					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			skin(9)|ovary(6)|pancreas(2)|central_nervous_system(2)	19						TCCTGTACTCCGTTCAACTGT	0.383												
ZNF365	22891	broad.mit.edu	37	10	64136336	64136336	+	Silent	SNP	C	C	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr10:64136336C>A	uc001jmc.2	+	2	699	c.384C>A	c.(382-384)ACC>ACA	p.T128T	ZNF365_uc001jly.3_Silent_p.T143T|ZNF365_uc001jmb.3_Silent_p.T128T|ZNF365_uc001jlz.3_Silent_p.T128T|ZNF365_uc001jma.3_Intron	NM_199451	NP_955523	Q70YC4	TALAN_HUMAN	zinc finger protein 365 isoform C	Error:Variant_position_missing_in_Q70YC4_after_alignment										ovary(1)|skin(1)	2	Prostate(12;0.0297)|all_hematologic(501;0.228)					ATGTGCAGACCTACACTGCCA	0.532												
JMJD1C	221037	broad.mit.edu	37	10	64952810	64952810	+	Silent	SNP	G	G	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr10:64952810G>A	uc001jmn.2	-	16	6264	c.5964C>T	c.(5962-5964)AGC>AGT	p.S1988S	JMJD1C_uc001jml.2_Silent_p.S1751S|JMJD1C_uc001jmm.2_Silent_p.S1700S|JMJD1C_uc010qiq.1_Silent_p.S1806S|JMJD1C_uc009xpi.2_Silent_p.S1806S|JMJD1C_uc009xpj.1_RNA|JMJD1C_uc001jmo.2_5'Flank|JMJD1C_uc009xpk.1_Silent_p.S886S	NM_032776	NP_116165	Q15652	JHD2C_HUMAN	jumonji domain containing 1C isoform a	1988					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)					TCTCTGGGCTGCTGCCACCAT	0.443												
JMJD1C	221037	broad.mit.edu	37	10	64954088	64954088	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr10:64954088C>T	uc001jmn.2	-	14	5992	c.5692G>A	c.(5692-5694)GAT>AAT	p.D1898N	JMJD1C_uc001jml.2_Missense_Mutation_p.D1679N|JMJD1C_uc001jmm.2_Missense_Mutation_p.D1610N|JMJD1C_uc010qiq.1_Missense_Mutation_p.D1716N|JMJD1C_uc009xpi.2_Missense_Mutation_p.D1716N|JMJD1C_uc009xpj.1_RNA|JMJD1C_uc009xpk.1_Missense_Mutation_p.D796N	NM_032776	NP_116165	Q15652	JHD2C_HUMAN	jumonji domain containing 1C isoform a	1898					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)					TGTTTGTGATCATGAGGCTGT	0.333												
HK1	3098	broad.mit.edu	37	10	71158533	71158533	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr10:71158533G>A	uc001jpl.3	+	17	2659	c.2558G>A	c.(2557-2559)CGT>CAT	p.R853H	HK1_uc001jpg.3_Missense_Mutation_p.R841H|HK1_uc001jph.3_Missense_Mutation_p.R857H|HK1_uc001jpi.3_Missense_Mutation_p.R857H|HK1_uc001jpj.3_Missense_Mutation_p.R888H|HK1_uc001jpk.3_Missense_Mutation_p.R852H	NM_000188	NP_000179	P19367	HXK1_HUMAN	hexokinase 1 isoform HKI	853	Catalytic.				glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane|nucleus	ATP binding|glucokinase activity			ovary(1)	1						GGACTGGACCGTCTGAATGTG	0.592												
C10orf27	219793	broad.mit.edu	37	10	72539371	72539371	+	Silent	SNP	A	A	G			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr10:72539371A>G	uc001jrj.1	-	5	795	c.405T>C	c.(403-405)AAT>AAC	p.N135N	C10orf27_uc010qjm.1_Silent_p.N135N|C10orf27_uc009xqh.1_RNA|C10orf27_uc010qjn.1_Silent_p.N135N|C10orf27_uc009xqi.1_Intron|C10orf27_uc010qjo.1_Silent_p.N124N|C10orf27_uc009xqj.1_Missense_Mutation_p.I130T|C10orf27_uc010qjp.1_Silent_p.N124N	NM_152710	NP_689923	Q96M53	SPATL_HUMAN	stromal protein associated with thymii and lymph	135					cell differentiation|multicellular organismal development|spermatogenesis	cytosol				skin(1)	1						GGGGGTTCCGATTAGACTGTG	0.587												
UNC5B	219699	broad.mit.edu	37	10	73050685	73050685	+	Silent	SNP	A	A	G			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr10:73050685A>G	uc001jro.2	+	9	1558	c.1113A>G	c.(1111-1113)TCA>TCG	p.S371S	UNC5B_uc001jrp.2_Silent_p.S360S	NM_170744	NP_734465	Q8IZJ1	UNC5B_HUMAN	unc-5 homolog B precursor	371	Extracellular (Potential).				apoptosis|axon guidance|regulation of apoptosis	integral to membrane				ovary(2)|lung(1)	3						TGGAGGCCTCAGGGGATGCGG	0.637												
USP54	159195	broad.mit.edu	37	10	75265090	75265090	+	Missense_Mutation	SNP	T	T	G			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr10:75265090T>G	uc001juo.2	-	19	4163	c.4146A>C	c.(4144-4146)GAA>GAC	p.E1382D	USP54_uc010qkk.1_Missense_Mutation_p.E564D|USP54_uc001juk.2_Missense_Mutation_p.E470D|USP54_uc001jul.2_Missense_Mutation_p.E470D|USP54_uc001jum.2_RNA|USP54_uc001jun.2_RNA	NM_152586	NP_689799	Q70EL1	UBP54_HUMAN	ubiquitin specific peptidase 54	1382					ubiquitin-dependent protein catabolic process		protein binding|ubiquitin thiolesterase activity			breast(3)|lung(2)|kidney(1)	6	Prostate(51;0.0112)					CTGTTCTGGCTTCATGGAGAC	0.547												
NDST2	8509	broad.mit.edu	37	10	75567582	75567582	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr10:75567582G>A	uc001jvk.2	-	3	1369	c.565C>T	c.(565-567)CTT>TTT	p.L189F	NDST2_uc010qks.1_5'Flank|NDST2_uc010qkt.1_Missense_Mutation_p.L66F|NDST2_uc009xro.2_5'Flank|NDST2_uc010qku.1_Missense_Mutation_p.L66F	NM_003635	NP_003626	P52849	NDST2_HUMAN	heparan glucosaminyl	189	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)					TGTAAAAAAAGGGGAAAGCCC	0.577												
ZMIZ1	57178	broad.mit.edu	37	10	81058854	81058854	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr10:81058854G>A	uc001kaf.2	+	16	2286	c.1714G>A	c.(1714-1716)GTG>ATG	p.V572M	ZMIZ1_uc001kag.2_Missense_Mutation_p.V448M	NM_020338	NP_065071	Q9ULJ6	ZMIZ1_HUMAN	retinoic acid induced 17	572					transcription, DNA-dependent	cytoplasm|nuclear speck	zinc ion binding			ovary(2)|breast(1)|skin(1)	4	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)			GCGGGATGGCGTGGTGCTGGA	0.647												
SFTPA2	729238	broad.mit.edu	37	10	81319123	81319123	+	Silent	SNP	G	G	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr10:81319123G>A	uc001kal.3	-	3	214	c.117C>T	c.(115-117)CAC>CAT	p.H39H	SFTPA2_uc001kan.3_Silent_p.H39H|SFTPA2_uc001kam.2_RNA	NM_006926	NP_008857	Q8IWL1	SFPA2_HUMAN	RecName: Full=Pulmonary surfactant-associated protein A2;          Short=SP-A2;          Short=SP-A;          Short=PSP-A;          Short=PSPA; AltName: Full=Alveolar proteinosis protein; AltName: Full=35 kDa pulmonary surfactant-associated protein; Flags: Precursor;	39	Collagen-like.				cell junction assembly|respiratory gaseous exchange	collagen|extracellular space	sugar binding				0	all_cancers(46;0.197)|Breast(12;0.000326)|Prostate(51;0.00985)|all_epithelial(25;0.0149)		Epithelial(14;0.00957)|all cancers(16;0.0179)|Colorectal(32;0.229)			CTGGCAGGCCGTGGGATCCAG	0.632									Pulmonary_Fibrosis_Idiopathic			
WAPAL	23063	broad.mit.edu	37	10	88260114	88260114	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr10:88260114A>G	uc001kdo.2	-	3	1328	c.886T>C	c.(886-888)TAC>CAC	p.Y296H	WAPAL_uc001kdn.2_Missense_Mutation_p.Y339H|WAPAL_uc009xsw.2_Missense_Mutation_p.Y296H	NM_015045	NP_055860	Q7Z5K2	WAPL_HUMAN	wings apart-like homolog	296	Mediates interaction with the cohesin complex.				cell division|interspecies interaction between organisms|mitosis|negative regulation of chromatin binding|negative regulation of DNA replication|negative regulation of sister chromatid cohesion|protein localization to chromatin|regulation of cohesin localization to chromatin	chromatin|cohesin complex|cytoplasm	protein binding			ovary(1)	1						GCCCTACAGTACGTCCTACAG	0.418												
PAPSS2	9060	broad.mit.edu	37	10	89472990	89472990	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr10:89472990C>T	uc001kex.2	+	3	567	c.304C>T	c.(304-306)CGG>TGG	p.R102W	PAPSS2_uc001kew.2_Missense_Mutation_p.R102W|PAPSS2_uc009xtg.1_RNA	NM_004670	NP_004661	O95340	PAPS2_HUMAN	3'-phosphoadenosine 5'-phosphosulfate synthase 2	102	Adenylyl-sulfate kinase.				3'-phosphoadenosine 5'-phosphosulfate biosynthetic process|skeletal system development|sulfate assimilation|xenobiotic metabolic process	cytosol	adenylylsulfate kinase activity|ATP binding|protein binding|sulfate adenylyltransferase (ATP) activity			central_nervous_system(1)|skin(1)	2		Melanoma(5;0.019)|Colorectal(252;0.123)		UCEC - Uterine corpus endometrioid carcinoma (6;0.00164)|Colorectal(12;0.000323)|COAD - Colon adenocarcinoma(12;0.00124)		AAATATCCGCCGGATTGCTGA	0.453												
CYP26C1	340665	broad.mit.edu	37	10	94828126	94828126	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr10:94828126C>T	uc010qns.1	+	6	1241	c.1241C>T	c.(1240-1242)ACG>ATG	p.T414M	CYP26C1_uc009xud.2_RNA	NM_183374	NP_899230	Q6V0L0	CP26C_HUMAN	cytochrome P450, family 26, subfamily C,	414					anterior/posterior pattern formation|central nervous system development|negative regulation of retinoic acid receptor signaling pathway|neural crest cell development|organelle fusion|retinoic acid catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity|retinoic acid binding			central_nervous_system(1)	1		Colorectal(252;0.122)				ATCCGGGACACGCACGAGACG	0.667												
BLNK	29760	broad.mit.edu	37	10	97969609	97969609	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr10:97969609G>A	uc001kls.3	-	9	909	c.731C>T	c.(730-732)CCG>CTG	p.P244L	BLNK_uc001kme.3_Missense_Mutation_p.P139L|BLNK_uc001klt.3_Missense_Mutation_p.P135L|BLNK_uc009xvc.2_RNA|BLNK_uc001klu.3_Missense_Mutation_p.P162L|BLNK_uc001klv.3_Missense_Mutation_p.P139L|BLNK_uc001klw.3_Intron|BLNK_uc001klx.3_Missense_Mutation_p.P221L|BLNK_uc001kly.3_Missense_Mutation_p.P244L|BLNK_uc001klz.3_RNA|BLNK_uc001kma.3_Missense_Mutation_p.P221L|BLNK_uc001kmb.3_Missense_Mutation_p.P40L|BLNK_uc001kmc.3_Intron|BLNK_uc001kmd.3_Missense_Mutation_p.P162L|BLNK_uc009xvd.2_RNA	NM_013314	NP_037446	Q8WV28	BLNK_HUMAN	B-cell linker isoform 1	244	Pro-rich.				B cell differentiation|humoral immune response|inflammatory response|intracellular signal transduction	cytoplasm|plasma membrane	SH3/SH2 adaptor activity|transmembrane receptor protein tyrosine kinase adaptor activity			skin(2)	2		Colorectal(252;0.083)		Epithelial(162;7.89e-08)|all cancers(201;2.27e-06)		CCGTGGCAACGGGGATGGTGC	0.562												
DHDPSL	112817	broad.mit.edu	37	10	99371285	99371285	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr10:99371285A>G	uc001kny.2	+	7	1212	c.853A>G	c.(853-855)ATC>GTC	p.I285V	DHDPSL_uc001knz.2_Missense_Mutation_p.I122V|PI4K2A_uc010qoy.1_Intron	NM_138413	NP_612422	Q86XE5	HOGA1_HUMAN	DHDPS-like protein isoform 1	285					glyoxylate catabolic process	mitochondrion	4-hydroxy-2-oxoglutarate aldolase activity				0						GCGCTTTGGGATCCCAGGGCT	0.572												
CNNM1	26507	broad.mit.edu	37	10	101147615	101147615	+	Silent	SNP	C	C	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr10:101147615C>T	uc001kpp.3	+	8	2668	c.2379C>T	c.(2377-2379)TGC>TGT	p.C793C	CNNM1_uc010qpi.1_Silent_p.C814C|CNNM1_uc009xwf.2_Silent_p.C793C|CNNM1_uc009xwg.2_Silent_p.C193C	NM_020348	NP_065081	Q9NRU3	CNNM1_HUMAN	cyclin M1	793					ion transport	integral to membrane|plasma membrane					0		Colorectal(252;0.234)		Epithelial(162;6.82e-10)|all cancers(201;5.62e-08)		TCACTGCCTGCCACATGGACA	0.617												
GOT1	2805	broad.mit.edu	37	10	101157324	101157324	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr10:101157324C>T	uc001kpr.2	-	9	1430	c.1222G>A	c.(1222-1224)GCA>ACA	p.A408T	GOT1_uc009xwh.2_RNA|GOT1_uc001kpq.1_Missense_Mutation_p.A121T	NM_002079	NP_002070	P17174	AATC_HUMAN	aspartate aminotransferase 1	408					aspartate catabolic process|cellular response to insulin stimulus|gluconeogenesis|response to glucocorticoid stimulus	cytosol	L-aspartate:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding				0		Ovarian(717;0.028)|Colorectal(252;0.234)		Epithelial(162;4.76e-10)|all cancers(201;3.84e-08)	L-Aspartic Acid(DB00128)|L-Cysteine(DB00151)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	TTGGTGACTGCTTCATGGATG	0.448												
HPS6	79803	broad.mit.edu	37	10	103826348	103826348	+	Missense_Mutation	SNP	G	G	T	rs140222296		TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr10:103826348G>T	uc001kuj.2	+	1	1202	c.1117G>T	c.(1117-1119)GGG>TGG	p.G373W		NM_024747	NP_079023	Q86YV9	HPS6_HUMAN	Hermansky-Pudlak syndrome-6	373						cytosol|early endosome membrane|endoplasmic reticulum|microsome					0		Colorectal(252;0.122)		Epithelial(162;5.93e-08)|all cancers(201;1.03e-06)		GGAGACCCGAGGGAATCTTCG	0.572									Hermansky-Pudlak_syndrome			
PPRC1	23082	broad.mit.edu	37	10	103908180	103908180	+	Silent	SNP	G	G	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr10:103908180G>A	uc001kum.2	+	10	4491	c.4452G>A	c.(4450-4452)TCG>TCA	p.S1484S	PPRC1_uc001kun.2_Silent_p.S1364S|PPRC1_uc010qqj.1_Silent_p.S1220S|PPRC1_uc009xxa.2_RNA	NM_015062	NP_055877	Q5VV67	PPRC1_HUMAN	peroxisome proliferator-activated receptor	1484	Arg-rich.|Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding			ovary(1)|central_nervous_system(1)|skin(1)	3		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		cctcttcttcgtcatcatctt	0.433												
NOLC1	9221	broad.mit.edu	37	10	103919311	103919311	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr10:103919311T>C	uc001kuo.2	+	7	1080	c.845T>C	c.(844-846)ATG>ACG	p.M282T	NOLC1_uc001kup.2_Missense_Mutation_p.M292T|NOLC1_uc001kuq.2_Missense_Mutation_p.M283T|NOLC1_uc009xxb.1_Missense_Mutation_p.M1T|NOLC1_uc001kur.2_Missense_Mutation_p.M1T	NM_004741	NP_004732	Q14978	NOLC1_HUMAN	nucleolar and coiled-body phosphoprotein 1	282	11 X 12 AA approximate repeats of an acidic serine cluster.|Interacts with RPA194.				mitosis|rRNA processing	cytoplasm|nucleolus	ATP binding|GTP binding|protein binding			ovary(1)	1		Colorectal(252;0.122)		Epithelial(162;5.19e-08)|all cancers(201;9.43e-07)		AAAAAACCCATGAAAAATAAA	0.318												
TCF7L2	6934	broad.mit.edu	37	10	114925566	114925566	+	Silent	SNP	C	C	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr10:114925566C>T	uc001lae.3	+	14	2151	c.1644C>T	c.(1642-1644)TCC>TCT	p.S548S	TCF7L2_uc001lac.3_Silent_p.S542S|TCF7L2_uc010qrk.1_3'UTR|TCF7L2_uc010qrl.1_Silent_p.S525S|TCF7L2_uc010qrm.1_3'UTR|TCF7L2_uc010qrn.1_3'UTR|TCF7L2_uc001lad.3_3'UTR|TCF7L2_uc001lag.3_3'UTR|TCF7L2_uc001laf.3_Silent_p.S525S|TCF7L2_uc010qro.1_3'UTR|TCF7L2_uc001lah.2_3'UTR|TCF7L2_uc010qrp.1_3'UTR|TCF7L2_uc010qrq.1_3'UTR|TCF7L2_uc010qrr.1_Silent_p.S480S|TCF7L2_uc010qrs.1_Silent_p.S436S|TCF7L2_uc010qrt.1_Silent_p.S436S|TCF7L2_uc010qru.1_3'UTR|TCF7L2_uc010qrv.1_3'UTR|TCF7L2_uc010qrw.1_3'UTR|TCF7L2_uc010qrx.1_3'UTR	NM_001146274	NP_001139746	Q9NQB0	TF7L2_HUMAN	transcription factor 7-like 2 isoform 1	565					anti-apoptosis|blood vessel development|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell cycle arrest|cell proliferation|fat cell differentiation|glucose homeostasis|maintenance of DNA repeat elements|myoblast cell fate commitment|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|pancreas development|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of insulin secretion|positive regulation of protein binding|positive regulation of protein export from nucleus|positive regulation of protein kinase B signaling cascade|positive regulation of transcription from RNA polymerase II promoter|regulation of hormone metabolic process|regulation of smooth muscle cell proliferation|response to glucose stimulus	beta-catenin-TCF7L2 complex|PML body|protein-DNA complex	armadillo repeat domain binding|beta-catenin binding|gamma-catenin binding|nuclear hormone receptor binding|protein kinase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding			large_intestine(3)|ovary(1)	4		Breast(234;0.058)|Colorectal(252;0.0615)		Epithelial(162;0.00554)|all cancers(201;0.02)		ACAAGGCCTCCGCCCTCTGTC	0.672												
NRAP	4892	broad.mit.edu	37	10	115356939	115356939	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr10:115356939T>C	uc001laj.2	-	37	4501	c.4337A>G	c.(4336-4338)AAG>AGG	p.K1446R	NRAP_uc009xyb.2_Missense_Mutation_p.K235R|NRAP_uc001lak.2_Missense_Mutation_p.K1411R|NRAP_uc001lal.3_Missense_Mutation_p.K1446R	NM_198060	NP_932326	Q86VF7	NRAP_HUMAN	nebulin-related anchoring protein isoform S	1446	Nebulin 38.					fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding			ovary(6)|central_nervous_system(3)|upper_aerodigestive_tract(1)	10		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		TTTACGGTACTTGGTCTATAA	0.448												
FAM160B1	57700	broad.mit.edu	37	10	116603678	116603678	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr10:116603678T>C	uc001lcb.2	+	7	1330	c.995T>C	c.(994-996)GTG>GCG	p.V332A	FAM160B1_uc001lcc.2_Missense_Mutation_p.V332A	NM_020940	NP_065991	Q5W0V3	F16B1_HUMAN	hypothetical protein LOC57700 isoform a	332										lung(1)	1						ATTGAAACCGTGGAAGCAATT	0.423												
FOXI2	399823	broad.mit.edu	37	10	129536818	129536818	+	Silent	SNP	C	C	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr10:129536818C>T	uc009yas.2	+	2	546	c.546C>T	c.(544-546)TGC>TGT	p.C182C	uc009yar.1_5'Flank	NM_207426	NP_997309	Q6ZQN5	FOXI2_HUMAN	forkhead box I2	182	Fork-head.				epidermal cell fate specification|otic placode formation|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding				0		all_epithelial(44;0.0021)|all_lung(145;0.0586)|Lung NSC(174;0.0765)|all_neural(114;0.201)|Glioma(114;0.222)				ACCCCAACTGCGAGAAGATGT	0.602												
GPR123	84435	broad.mit.edu	37	10	134942261	134942261	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr10:134942261G>A	uc001llx.3	+	7	1365	c.929G>A	c.(928-930)CGT>CAT	p.R310H	GPR123_uc001llw.2_Missense_Mutation_p.R1029H	NM_001083909	NP_001077378	Q86SQ6	GP123_HUMAN	G protein-coupled receptor 123	310	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity				0		all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05)		TGCGCCAAGCGTGAGGACGTG	0.692												
MUC6	4588	broad.mit.edu	37	11	1031986	1031986	+	Silent	SNP	G	G	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr11:1031986G>A	uc001lsw.2	-	3	234	c.183C>T	c.(181-183)TAC>TAT	p.Y61Y		NM_005961	NP_005952	Q6W4X9	MUC6_HUMAN	mucin 6, gastric	61	VWFD 1.				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent			ovary(1)	1		all_cancers(49;3.3e-08)|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;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CCGAGAAGTCGTACACGTGGT	0.632												
MUC5B	727897	broad.mit.edu	37	11	1265996	1265996	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr11:1265996C>T	uc009ycr.1	+	48	9926	c.9800C>T	c.(9799-9801)ACG>ATG	p.T3267M	MUC5B_uc001ltb.2_Missense_Mutation_p.T2632M	NM_017511	NP_059981	Q9HC84	MUC5B_HUMAN	SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming;	2629	7 X Cys-rich subdomain repeats.|11 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.			Missing (in Ref. 6; AAB61398).|RTL -> LTP (in Ref. 4; CAA96577).	cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding				0		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		ACGGCACGCACGCTTCCAGTG	0.642												
MUC5B	727897	broad.mit.edu	37	11	1275928	1275928	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr11:1275928T>C	uc009ycr.1	+	57	16619	c.16493T>C	c.(16492-16494)CTG>CCG	p.L5498P	MUC5B_uc001ltb.2_Missense_Mutation_p.L5164P	NM_017511	NP_059981	Q9HC84	MUC5B_HUMAN	SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming;	5161	VWFD 4.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding				0		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CCCCAGATCCTGTTTGACCAA	0.617												
MOB2	81532	broad.mit.edu	37	11	1491656	1491656	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr11:1491656C>T	uc010qwz.1	-	5	743	c.553G>A	c.(553-555)GTG>ATG	p.V185M	MOB2_uc001lto.1_Missense_Mutation_p.V69M|MOB2_uc001ltp.1_Translation_Start_Site|MOB2_uc001ltq.1_Missense_Mutation_p.V148M|MOB2_uc010qwy.1_Missense_Mutation_p.V69M	NM_053005	NP_443731	Q70IA6	MOB2_HUMAN	HCCA2 protein	154						nucleus|perinuclear region of cytoplasm	metal ion binding				0						TGTGCCAGCACGTGGAACAGG	0.582												
OR51E1	143503	broad.mit.edu	37	11	4674677	4674677	+	Silent	SNP	A	A	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr11:4674677A>T	uc001lzi.3	+	2	1065	c.921A>T	c.(919-921)CGA>CGT	p.R307R		NM_152430	NP_689643	Q8TCB6	O51E1_HUMAN	olfactory receptor, family 51, subfamily E,	306	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(3)|pancreas(1)	4		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;7.37e-14)|GBM - Glioblastoma multiforme(2;2.85e-05)|BRCA - Breast invasive adenocarcinoma(625;0.00222)|LUSC - Lung squamous cell carcinoma(625;0.19)		GCATCCTTCGACTTTTCCATG	0.453												
OR51B5	282763	broad.mit.edu	37	11	5364052	5364052	+	Missense_Mutation	SNP	C	C	G			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr11:5364052C>G	uc001map.1	-	1	703	c.703G>C	c.(703-705)GCT>CCT	p.A235P	HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron	NM_001005567	NP_001005567	Q9H339	O51B5_HUMAN	olfactory receptor, family 51, subfamily B,	235	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;3.05e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GTAATGAGAGCCTTGGCCCTC	0.433												
OR52H1	390067	broad.mit.edu	37	11	5565865	5565865	+	Missense_Mutation	SNP	G	G	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr11:5565865G>T	uc010qzh.1	-	1	889	c.889C>A	c.(889-891)CCC>ACC	p.P297T	HBG2_uc001mak.1_Intron	NM_001005289	NP_001005289	Q8NGJ2	O52H1_HUMAN	olfactory receptor, family 52, subfamily H,	297	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|breast(1)	2		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;5.33e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TAAACCATGGGGTTGAGTGCA	0.428												
TRIM5	85363	broad.mit.edu	37	11	5701403	5701403	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr11:5701403G>A	uc001mbm.1	-	2	262	c.5C>T	c.(4-6)GCT>GTT	p.A2V	TRIM5_uc001mbq.1_Missense_Mutation_p.A2V|TRIM5_uc001mbl.1_RNA|TRIM5_uc001mbn.2_Missense_Mutation_p.A2V|TRIM5_uc001mbo.2_Missense_Mutation_p.A2V|TRIM5_uc001mbp.2_Missense_Mutation_p.A2V	NM_033034	NP_149023	Q9C035	TRIM5_HUMAN	tripartite motif protein TRIM5 isoform alpha	2					interspecies interaction between organisms|protein trimerization|response to virus	cytoplasm|cytoplasmic mRNA processing body	ligase activity|protein binding|protein homodimerization activity|zinc ion binding			ovary(1)	1		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)|Lung NSC(207;0.138)|all_lung(207;0.221)		Epithelial(150;7.21e-09)|BRCA - Breast invasive adenocarcinoma(625;0.139)		GATTCCAGAAGCCATAGTAGC	0.537												
RRP8	23378	broad.mit.edu	37	11	6622259	6622259	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr11:6622259A>G	uc001med.2	-	4	1023	c.944T>C	c.(943-945)TTC>TCC	p.F315S	ILK_uc001mee.2_5'Flank|ILK_uc001mef.2_5'Flank|ILK_uc010rap.1_5'Flank|ILK_uc010raq.1_5'Flank|ILK_uc001meg.2_5'Flank|ILK_uc001meh.2_5'Flank	NM_015324	NP_056139	O43159	RRP8_HUMAN	ribosomal RNA processing 8, methyltransferase,	315					chromatin modification|chromatin silencing at rDNA|rRNA processing|transcription, DNA-dependent	chromatin silencing complex|nucleolus|rDNA heterochromatin	methylated histone residue binding|S-adenosylmethionine-dependent methyltransferase activity				0						CCCACAGCCGAAGTCAGCCAC	0.552												
RBMXL2	27288	broad.mit.edu	37	11	7110454	7110454	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr11:7110454G>A	uc001mfc.2	+	1	290	c.103G>A	c.(103-105)GTC>ATC	p.V35I		NM_014469	NP_055284	O75526	HNRGT_HUMAN	testes-specific heterogenous nuclear	35	RRM.					nucleus|ribonucleoprotein complex	nucleotide binding|RNA binding				0				Epithelial(150;5.14e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		TGGCCGCATCGTCGAGGTGCT	0.602												
RBMXL2	27288	broad.mit.edu	37	11	7111029	7111029	+	Silent	SNP	C	C	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr11:7111029C>T	uc001mfc.2	+	1	865	c.678C>T	c.(676-678)CGC>CGT	p.R226R		NM_014469	NP_055284	O75526	HNRGT_HUMAN	testes-specific heterogenous nuclear	226	Arg/Gly/Pro-rich.					nucleus|ribonucleoprotein complex	nucleotide binding|RNA binding				0				Epithelial(150;5.14e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		GAGACTACCGCGAACCCCGGG	0.706												
SPON1	10418	broad.mit.edu	37	11	14284395	14284395	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr11:14284395C>T	uc001mle.2	+	16	2672	c.2134C>T	c.(2134-2136)CGA>TGA	p.R712*		NM_006108	NP_006099	Q9HCB6	SPON1_HUMAN	spondin 1, extracellular matrix protein	712	TSP type-1 5.				cell adhesion	extracellular space|proteinaceous extracellular matrix	protein binding				0				Epithelial(150;0.00898)		GACTGTGCAGCGAAAAAAGTG	0.552												
PDE3B	5140	broad.mit.edu	37	11	14808053	14808053	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr11:14808053T>C	uc001mln.2	+	3	1453	c.1100T>C	c.(1099-1101)CTG>CCG	p.L367P	PDE3B_uc010rcr.1_Missense_Mutation_p.L367P	NM_000922	NP_000913	Q13370	PDE3B_HUMAN	phosphodiesterase 3B	367					cAMP catabolic process|insulin receptor signaling pathway|negative regulation of lipid catabolic process|platelet activation	cytosol|endoplasmic reticulum|Golgi apparatus|guanyl-nucleotide exchange factor complex|integral to membrane|microsome	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding|protein kinase B binding				0						TCAGATCTTCTGACTGATCCA	0.408												
MYOD1	4654	broad.mit.edu	37	11	17741405	17741405	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr11:17741405A>G	uc001mni.2	+	1	296	c.76A>G	c.(76-78)ACG>GCG	p.T26A		NM_002478	NP_002469	P15172	MYOD1_HUMAN	myogenic differentiation 1	26					muscle cell fate commitment|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter|protein phosphorylation|skeletal muscle tissue development	nuclear chromatin|transcription factor complex	E-box binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription coactivator activity			breast(2)|ovary(1)	3						CTTTGCCACAACGGACGACTT	0.657												
ANO3	63982	broad.mit.edu	37	11	26563573	26563573	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr11:26563573G>A	uc001mqt.3	+	11	1257	c.1112G>A	c.(1111-1113)CGC>CAC	p.R371H	ANO3_uc010rdr.1_Missense_Mutation_p.R355H|ANO3_uc010rds.1_Missense_Mutation_p.R210H|ANO3_uc010rdt.1_Missense_Mutation_p.R225H	NM_031418	NP_113606	Q9BYT9	ANO3_HUMAN	transmembrane protein 16C	371	Cytoplasmic (Potential).					chloride channel complex	chloride channel activity			ovary(2)|central_nervous_system(1)|pancreas(1)	4						CGCTGGGCACGCTGGGGAATG	0.408												
ELF5	2001	broad.mit.edu	37	11	34515034	34515034	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr11:34515034C>T	uc001mvo.1	-	3	607	c.377G>A	c.(376-378)CGC>CAC	p.R126H	ELF5_uc001mvp.1_Missense_Mutation_p.R116H|ELF5_uc009ykd.1_Intron|ELF5_uc001mvq.1_Missense_Mutation_p.R116H	NM_198381	NP_938195	Q9UKW6	ELF5_HUMAN	E74-like factor 5 ESE-2a	126	PNT.				cell proliferation|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			skin(1)	1		Acute lymphoblastic leukemia(5;0.0087)|all_hematologic(20;0.0384)				ACCTTGTGTGCGGATGTTCTG	0.552											OREG0020879	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
ACCSL	390110	broad.mit.edu	37	11	44069845	44069845	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr11:44069845G>A	uc001mxw.1	+	1	315	c.259G>A	c.(259-261)GCG>ACG	p.A87T	ACCSL_uc009ykr.2_5'UTR	NM_001031854	NP_001027025	Q4AC99	1A1L2_HUMAN	1-aminocyclopropane-1-carboxylate synthase	87							1-aminocyclopropane-1-carboxylate synthase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			ovary(5)	5						GTCTGGGGCCGCGAGTGGCCT	0.577												
ALX4	60529	broad.mit.edu	37	11	44331611	44331611	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr11:44331611A>G	uc001myb.2	-	1	106	c.2T>C	c.(1-3)ATG>ACG	p.M1T		NM_021926	NP_068745	Q9H161	ALX4_HUMAN	aristaless-like homeobox 4	1					hair follicle development						0						CTCAGCATTCATGCCTGGCTT	0.697												
SLC35C1	55343	broad.mit.edu	37	11	45832397	45832397	+	Silent	SNP	C	C	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr11:45832397C>T	uc001nbp.2	+	2	1318	c.606C>T	c.(604-606)GGC>GGT	p.G202G	SLC35C1_uc001nbo.2_Silent_p.G189G|SLC35C1_uc010rgm.1_Silent_p.G189G	NM_018389	NP_060859	Q96A29	FUCT1_HUMAN	GDP-fucose transporter 1 isoform a	202	Helical; (Potential).					Golgi membrane|integral to membrane	GDP-fucose transmembrane transporter activity				0				GBM - Glioblastoma multiforme(35;0.227)		CCGTCTTCGGCGTGCTGGCTA	0.572												
MTCH2	23788	broad.mit.edu	37	11	47660521	47660521	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr11:47660521T>C	uc010rho.1	-	2	359	c.170A>G	c.(169-171)TAT>TGT	p.Y57C	MTCH2_uc001nge.2_5'UTR|MTCH2_uc010rhp.1_5'UTR	NM_014342	NP_055157	Q9Y6C9	MTCH2_HUMAN	mitochondrial carrier 2	57	Solcar 1.				transport	integral to membrane|mitochondrial inner membrane					0						GCACTTACCATAACTAAAGAG	0.388												
OR4C15	81309	broad.mit.edu	37	11	55322161	55322161	+	Missense_Mutation	SNP	T	T	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr11:55322161T>A	uc010rig.1	+	1	379	c.379T>A	c.(379-381)TCA>ACA	p.S127T		NM_001001920	NP_001001920	Q8NGM1	OR4CF_HUMAN	olfactory receptor, family 4, subfamily C,	73	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2						TGCGTGCTTCTCATCTGTCAT	0.458										HNSCC(20;0.049)		
OR5D16	390144	broad.mit.edu	37	11	55606335	55606335	+	Silent	SNP	C	C	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr11:55606335C>A	uc010rio.1	+	1	108	c.108C>A	c.(106-108)GTC>GTA	p.V36V		NM_001005496	NP_001005496	Q8NGK9	OR5DG_HUMAN	olfactory receptor, family 5, subfamily D,	36	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(4)|skin(1)	5		all_epithelial(135;0.208)				TTCTGGCAGTCTACGGCTTCA	0.438												
OR5T2	219464	broad.mit.edu	37	11	56000059	56000059	+	Silent	SNP	A	A	G			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr11:56000059A>G	uc010rjc.1	-	1	603	c.603T>C	c.(601-603)GCT>GCC	p.A201A		NM_001004746	NP_001004746	Q8NGG2	OR5T2_HUMAN	olfactory receptor, family 5, subfamily T,	201	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2	Esophageal squamous(21;0.00448)					GGCTAAATGTAGCCACTGTAT	0.433												
PRG2	5553	broad.mit.edu	37	11	57156097	57156097	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr11:57156097C>T	uc001njz.2	-	3	478	c.451G>A	c.(451-453)GCG>ACG	p.A151T	PRG2_uc001njw.1_RNA|PRG2_uc001njx.1_RNA|PRG2_uc001njy.1_RNA|PRG2_uc001nka.2_Missense_Mutation_p.A151T|PRG2_uc001nkb.2_Missense_Mutation_p.A151T|PRG2_uc001nkd.2_Missense_Mutation_p.A140T|PRG2_uc001nkc.2_Missense_Mutation_p.A151T|PRG2_uc001nke.2_Missense_Mutation_p.A431T	NM_002728	NP_002719	P13727	PRG2_HUMAN	proteoglycan 2 preproprotein	151	C-type lectin.				defense response to bacterium|immune response	extracellular region|transport vesicle	heparin binding|sugar binding			central_nervous_system(1)	1				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	Sargramostim(DB00020)	TGGTTGAGCGCGCTGACAGAA	0.507												
CTNND1	1500	broad.mit.edu	37	11	57569578	57569578	+	Nonsense_Mutation	SNP	A	A	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr11:57569578A>T	uc001nmc.3	+	7	1901	c.1330A>T	c.(1330-1332)AAG>TAG	p.K444*	CTNND1_uc001nlh.1_Nonsense_Mutation_p.K444*|CTNND1_uc001nlu.3_Nonsense_Mutation_p.K343*|CTNND1_uc001nlt.3_Nonsense_Mutation_p.K343*|CTNND1_uc001nls.3_Nonsense_Mutation_p.K343*|CTNND1_uc001nlw.3_Nonsense_Mutation_p.K343*|CTNND1_uc001nmf.3_Nonsense_Mutation_p.K444*|CTNND1_uc001nmd.3_Nonsense_Mutation_p.K390*|CTNND1_uc001nlk.3_Nonsense_Mutation_p.K390*|CTNND1_uc001nme.3_Nonsense_Mutation_p.K444*|CTNND1_uc001nll.3_Nonsense_Mutation_p.K390*|CTNND1_uc001nmg.3_Nonsense_Mutation_p.K390*|CTNND1_uc001nlj.3_Nonsense_Mutation_p.K390*|CTNND1_uc001nlr.3_Nonsense_Mutation_p.K390*|CTNND1_uc001nlp.3_Nonsense_Mutation_p.K390*|CTNND1_uc001nlx.3_Nonsense_Mutation_p.K121*|CTNND1_uc001nlz.3_Nonsense_Mutation_p.K121*|CTNND1_uc009ymn.2_Nonsense_Mutation_p.K121*|CTNND1_uc001nlm.3_Nonsense_Mutation_p.K444*|CTNND1_uc001nly.3_Nonsense_Mutation_p.K121*|CTNND1_uc001nmb.3_Nonsense_Mutation_p.K121*|CTNND1_uc001nma.3_Nonsense_Mutation_p.K121*|CTNND1_uc001nmi.3_Nonsense_Mutation_p.K343*|CTNND1_uc001nmh.3_Nonsense_Mutation_p.K444*|CTNND1_uc001nlq.3_Nonsense_Mutation_p.K343*|CTNND1_uc001nln.3_Nonsense_Mutation_p.K444*|CTNND1_uc001nli.3_Nonsense_Mutation_p.K444*|CTNND1_uc001nlo.3_Nonsense_Mutation_p.K343*|CTNND1_uc001nlv.3_Nonsense_Mutation_p.K343*	NM_001085458	NP_001078927	O60716	CTND1_HUMAN	catenin, delta 1 isoform 1ABC	444	ARM 3.				adherens junction organization|cell junction assembly|negative regulation of canonical Wnt receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	cytosol|midbody|nucleus	cadherin binding|protein binding|receptor binding			breast(4)|ovary(1)|kidney(1)	6		all_epithelial(135;0.155)				CCAGGATAACAAGATTGCCAT	0.468												
FAM111A	63901	broad.mit.edu	37	11	58920618	58920618	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr11:58920618C>T	uc010rkp.1	+	5	1704	c.1477C>T	c.(1477-1479)CGA>TGA	p.R493*	FAM111A_uc010rkq.1_Nonsense_Mutation_p.R493*|FAM111A_uc010rkr.1_Nonsense_Mutation_p.R493*|FAM111A_uc001nno.2_Nonsense_Mutation_p.R493*|FAM111A_uc001nnp.2_Nonsense_Mutation_p.R493*|FAM111A_uc001nnq.2_Nonsense_Mutation_p.R493*	NM_001142521	NP_001135993	Q96PZ2	F111A_HUMAN	hypothetical protein LOC63901	493					proteolysis		serine-type endopeptidase activity			ovary(3)	3		all_epithelial(135;0.139)				TCAGGGTCAGCGAGCAAAGAA	0.398												
SLC22A6	9356	broad.mit.edu	37	11	62744860	62744860	+	Splice_Site	SNP	C	C	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr11:62744860C>A	uc001nwk.2	-	9	1669	c.1362_splice	c.e9-1	p.R454_splice	SLC22A6_uc001nwl.2_Intron|SLC22A6_uc001nwj.2_Splice_Site_p.R454_splice|SLC22A6_uc001nwm.2_Intron	NM_004790	NP_004781	Q4U2R8	S22A6_HUMAN	solute carrier family 22 member 6 isoform a						alpha-ketoglutarate transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	inorganic anion exchanger activity|protein binding				0						GCCTGTCTGCCTGCAGGGCCC	0.627												
SLC22A10	387775	broad.mit.edu	37	11	63069976	63069976	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr11:63069976G>A	uc009yor.2	+	7	1454	c.1246G>A	c.(1246-1248)GTG>ATG	p.V416M	SLC22A10_uc010rmo.1_Intron|SLC22A10_uc001nwu.3_Intron|SLC22A10_uc010rmp.1_Intron	NM_001039752	NP_001034841	Q63ZE4	S22AA_HUMAN	solute carrier family 22, member 10	416	Helical; (Potential).					integral to membrane	transmembrane transporter activity			ovary(2)	2						CATGTTCCTGGTGGGCCTTTC	0.443												
GPR137	56834	broad.mit.edu	37	11	64055863	64055863	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr11:64055863A>G	uc001nzg.1	+	6	1143	c.835A>G	c.(835-837)ATC>GTC	p.I279V	GPR137_uc010rni.1_Missense_Mutation_p.I337V|GPR137_uc001nzf.2_Missense_Mutation_p.I229V|GPR137_uc001nzi.2_Missense_Mutation_p.I279V|GPR137_uc010rnj.1_Missense_Mutation_p.I279V|KCNK4_uc009ypl.1_5'Flank|KCNK4_uc001nzj.1_5'Flank|KCNK4_uc001nzk.1_5'Flank|KCNK4_uc010rnk.1_5'Flank	NM_020155	NP_064540	Q96N19	G137A_HUMAN	G protein-coupled receptor 137	279	Helical; (Potential).					integral to membrane				central_nervous_system(1)	1						ATTTGGCCTCATCCTCTTCGT	0.627												
CLCF1	23529	broad.mit.edu	37	11	67133087	67133087	+	Silent	SNP	G	G	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr11:67133087G>A	uc001okq.2	-	3	394	c.198C>T	c.(196-198)GGC>GGT	p.G66G	LOC100130987_uc010rpo.1_Intron|CLCF1_uc010rpp.1_Silent_p.G56G	NM_013246	NP_037378	Q9UBD9	CLCF1_HUMAN	cardiotrophin-like cytokine factor 1 precursor	66					B cell differentiation|cytokine-mediated signaling pathway|JAK-STAT cascade|negative regulation of neuron apoptosis|positive regulation of astrocyte differentiation|positive regulation of B cell proliferation|positive regulation of immunoglobulin production|positive regulation of isotype switching to IgE isotypes|positive regulation of tyrosine phosphorylation of Stat3 protein	extracellular space	ciliary neurotrophic factor receptor binding|cytokine activity|growth factor activity|protein heterodimerization activity				0			BRCA - Breast invasive adenocarcinoma(15;2.39e-06)			TGAAAGGGGGGCCCAGGTAGT	0.592												
MTL5	9633	broad.mit.edu	37	11	68480770	68480770	+	Missense_Mutation	SNP	C	C	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr11:68480770C>A	uc001ooc.2	-	8	1266	c.1126G>T	c.(1126-1128)GGC>TGC	p.G376C		NM_004923	NP_004914	Q9Y4I5	MTL5_HUMAN	metallothionein-like 5, testis-specific isoform	376	CXC 2.				cell differentiation|cellular metal ion homeostasis|multicellular organismal development|response to metal ion|spermatogenesis	cytoplasm|nucleus|soluble fraction	metal ion binding			ovary(2)|breast(1)	3	Esophageal squamous(3;4.37e-12)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.185)			TTCAGGCAGCCTGACCTCCTG	0.463												
CTTN	2017	broad.mit.edu	37	11	70277339	70277339	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr11:70277339G>A	uc001opv.3	+	15	1425	c.1219G>A	c.(1219-1221)GCA>ACA	p.A407T	CTTN_uc001opu.2_Missense_Mutation_p.A370T|CTTN_uc001opw.3_Missense_Mutation_p.A370T|CTTN_uc010rqm.1_Missense_Mutation_p.A91T|CTTN_uc001opx.2_Missense_Mutation_p.A91T	NM_005231	NP_005222	Q14247	SRC8_HUMAN	cortactin isoform a	407						cell cortex|cytoskeleton|lamellipodium|ruffle|soluble fraction	protein binding			ovary(1)	1			BRCA - Breast invasive adenocarcinoma(2;4.34e-41)|LUSC - Lung squamous cell carcinoma(11;1.51e-13)|STAD - Stomach adenocarcinoma(18;0.0513)	Lung(977;0.0234)|LUSC - Lung squamous cell carcinoma(976;0.133)		TGTGTCGCCCGCACCTCAGCC	0.562												
DHCR7	1717	broad.mit.edu	37	11	71146556	71146556	+	Missense_Mutation	SNP	G	G	C			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr11:71146556G>C	uc001oqk.2	-	9	1543	c.1293C>G	c.(1291-1293)TTC>TTG	p.F431L	DHCR7_uc001oql.2_Missense_Mutation_p.F431L	NM_001163817	NP_001157289	Q9UBM7	DHCR7_HUMAN	7-dehydrocholesterol reductase	431	Helical; (Potential).				cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane|nuclear outer membrane	7-dehydrocholesterol reductase activity|protein binding			ovary(1)|liver(1)	2					NADH(DB00157)	AGATGATGTAGAAGTAGGGCA	0.682									Smith-Lemli-Opitz_syndrome			
KRTAP5-7	440050	broad.mit.edu	37	11	71238367	71238367	+	Silent	SNP	C	C	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr11:71238367C>T	uc001oqq.1	+	1	55	c.21C>T	c.(19-21)TCC>TCT	p.S7S		NM_001012503	NP_001012521	Q6L8G8	KRA57_HUMAN	keratin associated protein 5-7	7						keratin filament					0						GTGGCTGTTCCGAAGGCTGTG	0.677												
C11orf51	25906	broad.mit.edu	37	11	71821194	71821194	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr11:71821194C>T	uc001orw.2	-	5	480	c.258G>A	c.(256-258)ATG>ATA	p.M86I	LRTOMT_uc010rqv.1_3'UTR|LRTOMT_uc010rqw.1_3'UTR|LRTOMT_uc001ors.3_3'UTR|C11orf51_uc009ytc.1_Missense_Mutation_p.M77I|C11orf51_uc001orv.2_Missense_Mutation_p.M86I	NM_014042	NP_054761	P60006	CK051_HUMAN	hypothetical protein LOC25906	86	Asp-rich.					intracellular					0						CCATGTCCTGCATatcctcat	0.363												
INPPL1	3636	broad.mit.edu	37	11	71939414	71939414	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr11:71939414G>A	uc001osf.2	+	3	416	c.269G>A	c.(268-270)CGC>CAC	p.R90H	INPPL1_uc001osg.2_5'UTR	NM_001567	NP_001558	O15357	SHIP2_HUMAN	inositol polyphosphate phosphatase-like 1	90	SH2.				actin filament organization|cell adhesion|endocytosis	actin cortical patch|cytosol	actin binding|SH2 domain binding|SH3 domain binding			skin(2)|ovary(1)|breast(1)	4						GTGCCTGTGCGCCGCTTCCAG	0.662												
P2RY6	5031	broad.mit.edu	37	11	73008445	73008445	+	Silent	SNP	C	C	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr11:73008445C>T	uc001otm.2	+	4	1287	c.882C>T	c.(880-882)AGC>AGT	p.S294S	P2RY6_uc001otn.2_Silent_p.S294S|P2RY6_uc001oto.2_Silent_p.S294S|P2RY6_uc001otp.2_Silent_p.S294S|P2RY6_uc001otq.2_Silent_p.S294S|P2RY6_uc001otr.2_Silent_p.S294S|P2RY6_uc001ots.2_Silent_p.S294S	NM_176796	NP_789766	Q15077	P2RY6_HUMAN	pyrimidinergic receptor P2Y6	294	Helical; Name=7; (Potential).				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			ovary(1)	1						GTGCCAACAGCGTGCTGGACC	0.617												
OMP	4975	broad.mit.edu	37	11	76814096	76814096	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr11:76814096G>A	uc010rsk.1	+	1	211	c.211G>A	c.(211-213)GTG>ATG	p.V71M	CAPN5_uc001oxx.2_Intron|CAPN5_uc009yup.2_Intron|CAPN5_uc009yuq.2_Intron|CAPN5_uc001oxy.2_Intron	NM_006189	NP_006180	P47874	OMP_HUMAN	olfactory marker protein	71					sensory perception of smell|synaptic transmission						0						CTGGAATGTCGTGCTGGACAA	0.627												
RSF1	51773	broad.mit.edu	37	11	77386206	77386206	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr11:77386206C>T	uc001oyn.2	-	14	3557	c.3437G>A	c.(3436-3438)CGT>CAT	p.R1146H	RSF1_uc001oym.2_Missense_Mutation_p.R894H	NM_016578	NP_057662	Q96T23	RSF1_HUMAN	remodeling and spacing factor 1	1146	Arg-rich.				CenH3-containing nucleosome assembly at centromere|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription initiation, DNA-dependent	RSF complex	histone binding|protein binding|zinc ion binding			ovary(2)|central_nervous_system(2)	4	all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152)		Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31)			CCTCAGTCTACGGCTACAAAA	0.463												
RSF1	51773	broad.mit.edu	37	11	77389135	77389135	+	Silent	SNP	T	T	C			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr11:77389135T>C	uc001oyn.2	-	12	3249	c.3129A>G	c.(3127-3129)GGA>GGG	p.G1043G	RSF1_uc001oym.2_Silent_p.G791G	NM_016578	NP_057662	Q96T23	RSF1_HUMAN	remodeling and spacing factor 1	1043					CenH3-containing nucleosome assembly at centromere|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription initiation, DNA-dependent	RSF complex	histone binding|protein binding|zinc ion binding			ovary(2)|central_nervous_system(2)	4	all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152)		Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31)			ACATACCTCCTCCATCGGCTT	0.378												
PCF11	51585	broad.mit.edu	37	11	82877337	82877337	+	Missense_Mutation	SNP	A	A	C			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr11:82877337A>C	uc001ozx.3	+	5	1743	c.1398A>C	c.(1396-1398)AAA>AAC	p.K466N	PCF11_uc010rsu.1_Missense_Mutation_p.K466N	NM_015885	NP_056969	O94913	PCF11_HUMAN	pre-mRNA cleavage complex II protein Pcf11	466					mRNA 3'-end processing|mRNA cleavage|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage factor complex				ovary(1)	1						AGTCAGAAAAACAGGGGACAA	0.403												
DLG2	1740	broad.mit.edu	37	11	83874553	83874553	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr11:83874553A>G	uc001paj.2	-	4	563	c.260T>C	c.(259-261)GTC>GCC	p.V87A	DLG2_uc001pai.2_Missense_Mutation_p.V36A|DLG2_uc010rsy.1_Missense_Mutation_p.V54A|DLG2_uc010rsz.1_Missense_Mutation_p.V87A|DLG2_uc010rta.1_Missense_Mutation_p.V87A|DLG2_uc001pak.2_Missense_Mutation_p.V192A|DLG2_uc010rtb.1_Missense_Mutation_p.V54A|DLG2_uc001pal.1_Missense_Mutation_p.V87A|DLG2_uc001pam.1_Missense_Mutation_p.V126A	NM_001364	NP_001355	Q15700	DLG2_HUMAN	chapsyn-110 isoform 2	87						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)				TGTCCCATTGACCTGTAAATA	0.328												
FZD4	8322	broad.mit.edu	37	11	86663160	86663160	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr11:86663160C>T	uc001pce.2	-	2	944	c.638G>A	c.(637-639)CGC>CAC	p.R213H	PRSS23_uc001pcc.1_RNA	NM_012193	NP_036325	Q9ULV1	FZD4_HUMAN	frizzled 4 precursor	213	Extracellular (Potential).				canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|negative regulation of cell-substrate adhesion|neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|progesterone secretion|regulation of vascular endothelial growth factor receptor signaling pathway|substrate adhesion-dependent cell spreading|vasculogenesis|Wnt receptor signaling pathway, calcium modulating pathway	cell projection|cell surface|cytoplasm	cytokine binding|G-protein coupled receptor activity|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|Wnt receptor activity|Wnt-protein binding			large_intestine(1)	1		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				CTTGGCTGAGCGGCTGTATAA	0.502												
FAT3	120114	broad.mit.edu	37	11	92086520	92086520	+	Silent	SNP	T	T	C			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr11:92086520T>C	uc001pdj.3	+	1	1259	c.1242T>C	c.(1240-1242)GGT>GGC	p.G414G		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	FAT tumor suppressor homolog 3	414	Extracellular (Potential).|Cadherin 4.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|pancreas(1)	5		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TATCTCCTGGTGAGGATGCAG	0.418										TCGA Ovarian(4;0.039)		
DYNC2H1	79659	broad.mit.edu	37	11	103091455	103091455	+	Missense_Mutation	SNP	T	T	G			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr11:103091455T>G	uc001pho.2	+	57	9194	c.9050T>G	c.(9049-9051)CTT>CGT	p.L3017R	DYNC2H1_uc001phn.1_Missense_Mutation_p.L3017R|DYNC2H1_uc009yxe.1_Intron	NM_001080463	NP_001073932	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	3017	Stalk (By similarity).				cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity				0		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		AGAGATATTCTTGAAGGAGTT	0.353												
DDI1	414301	broad.mit.edu	37	11	103907607	103907607	+	Silent	SNP	C	C	G			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr11:103907607C>G	uc001phr.2	+	1	300	c.57C>G	c.(55-57)CTC>CTG	p.L19L	PDGFD_uc001php.2_Intron|PDGFD_uc001phq.2_Intron	NM_001001711	NP_001001711	Q8WTU0	DDI1_HUMAN	DDI1, DNA-damage inducible 1, homolog 1	19	Ubiquitin-like.				proteolysis		aspartic-type endopeptidase activity			large_intestine(3)|upper_aerodigestive_tract(1)|pancreas(1)	5		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164)		BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169)		CCTTCTCTCTCCAGGTCAGCC	0.527												
EXPH5	23086	broad.mit.edu	37	11	108385274	108385274	+	Silent	SNP	C	C	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr11:108385274C>T	uc001pkk.2	-	6	1071	c.960G>A	c.(958-960)TCG>TCA	p.S320S	EXPH5_uc010rvy.1_Silent_p.S132S|EXPH5_uc010rvz.1_Silent_p.S164S|EXPH5_uc010rwa.1_Silent_p.S244S	NM_015065	NP_055880	Q8NEV8	EXPH5_HUMAN	exophilin 5 isoform a	320					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)		CAAAACACAGCGAAGTACTGC	0.448												
ARHGAP20	57569	broad.mit.edu	37	11	110494969	110494969	+	Silent	SNP	C	C	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr11:110494969C>T	uc001pkz.1	-	5	705	c.420G>A	c.(418-420)GTG>GTA	p.V140V	ARHGAP20_uc001pky.1_Silent_p.V117V|ARHGAP20_uc009yyb.1_Silent_p.V104V|ARHGAP20_uc001pla.1_Silent_p.V104V	NM_020809	NP_065860	Q9P2F6	RHG20_HUMAN	Rho GTPase activating protein 20	140	PH.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			ovary(3)|kidney(2)	5		all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475)		CCACTTCATCCACACAGCTTG	0.373												
TTC12	54970	broad.mit.edu	37	11	113187019	113187019	+	Nonsense_Mutation	SNP	A	A	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr11:113187019A>T	uc001pnu.2	+	2	145	c.40A>T	c.(40-42)AAA>TAA	p.K14*	TTC12_uc001pnv.2_Nonsense_Mutation_p.K14*|TTC12_uc001pnw.2_RNA|TTC12_uc001pnx.2_5'UTR	NM_017868	NP_060338	Q9H892	TTC12_HUMAN	tetratricopeptide repeat domain 12	14							binding			pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	4		all_cancers(61;2.73e-16)|all_epithelial(67;8.64e-10)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.183)|Renal(330;0.187)		BRCA - Breast invasive adenocarcinoma(274;5.3e-06)|Epithelial(105;8.37e-05)|all cancers(92;0.000694)		GAAATTTCTTAAAAATGTGGA	0.333												
CADM1	23705	broad.mit.edu	37	11	115088652	115088652	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr11:115088652C>T	uc001ppi.3	-	6	910	c.781G>A	c.(781-783)GAC>AAC	p.D261N	CADM1_uc001ppf.3_Missense_Mutation_p.D261N|CADM1_uc001ppk.3_Missense_Mutation_p.D261N|CADM1_uc001ppj.3_Missense_Mutation_p.D261N|CADM1_uc001ppl.2_Missense_Mutation_p.D261N|CADM1_uc001pph.3_Missense_Mutation_p.D13N	NM_014333	NP_055148	Q9BY67	CADM1_HUMAN	immunoglobulin superfamily, member 4D isoform 1	261	Ig-like C2-type 2.|Extracellular (Potential).				adherens junction organization|apoptosis|cell differentiation|cell junction assembly|cell recognition|detection of stimulus|heterophilic cell-cell adhesion|homophilic cell adhesion|multicellular organismal development|positive regulation of cytokine secretion|spermatogenesis|susceptibility to natural killer cell mediated cytotoxicity	basolateral plasma membrane|cell-cell junction|integral to membrane	PDZ domain binding|protein C-terminus binding|protein homodimerization activity|receptor binding			ovary(2)	2	all_hematologic(175;0.0628)	all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237)		BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303)		TCAAGCGCGTCCCCTTCCCGG	0.458												
APOA5	116519	broad.mit.edu	37	11	116661524	116661524	+	Missense_Mutation	SNP	C	C	G			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr11:116661524C>G	uc001ppr.2	-	3	429	c.421G>C	c.(421-423)GCC>CCC	p.A141P	ZNF259_uc001ppp.2_5'Flank|ZNF259_uc009yzd.2_5'Flank|ZNF259_uc001ppq.2_5'Flank|APOA5_uc009yze.2_Missense_Mutation_p.A141P|APOA5_uc009yzf.2_Missense_Mutation_p.A141P|APOA5_uc009yzg.2_Missense_Mutation_p.A167P	NM_052968	NP_443200	Q6Q788	APOA5_HUMAN	apolipoprotein AV precursor	141	Potential.				acylglycerol homeostasis|cholesterol homeostasis|lipid transport|lipoprotein metabolic process|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of receptor-mediated endocytosis|positive regulation of triglyceride catabolic process|positive regulation of very-low-density lipoprotein particle remodeling|tissue regeneration|triglyceride catabolic process|triglyceride homeostasis	chylomicron|high-density lipoprotein particle|very-low-density lipoprotein particle	enzyme binding|heparin binding|lipoprotein lipase activator activity|low-density lipoprotein particle receptor binding|phosphatidylcholine binding				0	all_hematologic(175;0.0487)	all_cancers(61;3.31e-09)|all_epithelial(67;8.03e-06)|Breast(348;0.0126)|Melanoma(852;0.0153)|Acute lymphoblastic leukemia(157;0.0257)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0433)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;4.93e-06)|all cancers(92;0.000123)|OV - Ovarian serous cystadenocarcinoma(223;0.149)		ACGCGCAGGGCCACCTGCTCC	0.647												
FOXR1	283150	broad.mit.edu	37	11	118851219	118851219	+	Missense_Mutation	SNP	C	C	T	rs117450447	by1000genomes	TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr11:118851219C>T	uc001pui.2	+	5	856	c.631C>T	c.(631-633)CGG>TGG	p.R211W	FOXR1_uc001puj.2_Intron|FOXR1_uc001puk.2_Missense_Mutation_p.R42W	NM_181721	NP_859072	Q6PIV2	FOXR1_HUMAN	forkhead box R1	211	Fork-head.				embryo development|organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			skin(1)	1	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.62e-05)		CCCCTTTTTCCGGACGGCCCC	0.557												
TMEM136	219902	broad.mit.edu	37	11	120201050	120201050	+	Silent	SNP	G	G	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr11:120201050G>A	uc001pxh.1	+	3	627	c.564G>A	c.(562-564)ACG>ACA	p.T188T	TMEM136_uc001pxg.2_Intron|TMEM136_uc010rzm.1_Intron|TMEM136_uc001pxj.2_Silent_p.T210T|TMEM136_uc009zas.1_Silent_p.T74T|TMEM136_uc001pxi.1_Silent_p.T74T	NM_174926	NP_777586	Q6ZRR5	TM136_HUMAN	transmembrane protein 136	188	TLC.					integral to membrane				ovary(1)	1		Breast(109;0.00663)|Medulloblastoma(222;0.0523)|Hepatocellular(160;0.206)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;5.07e-06)		TCTCCCCCACGCCTAAGTGGT	0.507												
TECTA	7007	broad.mit.edu	37	11	120998548	120998548	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr11:120998548G>A	uc010rzo.1	+	8	1862	c.1862G>A	c.(1861-1863)CGG>CAG	p.R621Q		NM_005422	NP_005413	O75443	TECTA_HUMAN	tectorin alpha precursor	621	TIL 1.				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix				breast(6)|ovary(2)|skin(2)	10	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		ACGGCCTCGCGGAACTGCGCC	0.657												
TECTA	7007	broad.mit.edu	37	11	121038922	121038922	+	Silent	SNP	C	C	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr11:121038922C>T	uc010rzo.1	+	18	5746	c.5746C>T	c.(5746-5748)CTA>TTA	p.L1916L		NM_005422	NP_005413	O75443	TECTA_HUMAN	tectorin alpha precursor	1916	ZP.				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix				breast(6)|ovary(2)|skin(2)	10	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		GAAGCCTATGCTAAGGTAAGG	0.433												
TECTA	7007	broad.mit.edu	37	11	121060508	121060508	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr11:121060508C>T	uc010rzo.1	+	22	6286	c.6286C>T	c.(6286-6288)CAG>TAG	p.Q2096*		NM_005422	NP_005413	O75443	TECTA_HUMAN	tectorin alpha precursor	2096					cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix				breast(6)|ovary(2)|skin(2)	10	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		AGGGTGTGAGCAGATTTGCAC	0.532												
OR8B8	26493	broad.mit.edu	37	11	124310278	124310278	+	Missense_Mutation	SNP	G	G	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr11:124310278G>T	uc010sal.1	-	1	704	c.704C>A	c.(703-705)TCC>TAC	p.S235Y		NM_012378	NP_036510	Q15620	OR8B8_HUMAN	olfactory receptor, family 8, subfamily B,	235	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)		GAAGGCTTTGGACCTGCCCTC	0.473												
ST3GAL4	6484	broad.mit.edu	37	11	126279292	126279292	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr11:126279292C>T	uc001qds.2	+	9	976	c.757C>T	c.(757-759)CGG>TGG	p.R253W	ST3GAL4_uc001qdt.2_Missense_Mutation_p.R249W|ST3GAL4_uc009zcc.2_Missense_Mutation_p.R89W|ST3GAL4_uc009zcd.2_Missense_Mutation_p.R242W|ST3GAL4_uc001qdu.2_Missense_Mutation_p.R249W|ST3GAL4_uc001qdv.2_Missense_Mutation_p.R253W|ST3GAL4_uc009zce.2_Missense_Mutation_p.R249W|ST3GAL4_uc001qdw.2_Missense_Mutation_p.R242W|ST3GAL4_uc001qdx.1_Missense_Mutation_p.R210W|ST3GAL4_uc001qdy.2_Missense_Mutation_p.R89W|ST3GAL4_uc001qdz.2_Missense_Mutation_p.R89W	NM_006278	NP_006269	Q11206	SIA4C_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase	253	Lumenal (Potential).				post-translational protein modification|protein N-linked glycosylation via asparagine	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,3-sialyltransferase activity				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;0.138)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0767)		GCAACAGCCACGGAAGATTAA	0.527												
ARHGAP32	9743	broad.mit.edu	37	11	128838937	128838937	+	Silent	SNP	G	G	A	rs144742823		TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr11:128838937G>A	uc009zcp.2	-	22	6129	c.6129C>T	c.(6127-6129)GGC>GGT	p.G2043G	ARHGAP32_uc009zcq.1_3'UTR|ARHGAP32_uc009zco.2_Silent_p.G1002G|ARHGAP32_uc001qez.2_Silent_p.G1694G	NM_001142685	NP_001136157	A7KAX9	RHG32_HUMAN	Rho GTPase-activating protein isoform 1	2043	Interaction with FYN.				cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane	GTPase activator activity|phosphatidylinositol binding			lung(3)|ovary(2)	5						TCCCCATGCCGCCCCCTCCAA	0.597												
GLB1L2	89944	broad.mit.edu	37	11	134244523	134244523	+	Missense_Mutation	SNP	A	A	C			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr11:134244523A>C	uc001qhp.2	+	18	1923	c.1735A>C	c.(1735-1737)AAT>CAT	p.N579H	GLB1L2_uc009zdg.1_RNA	NM_138342	NP_612351	Q8IW92	GLBL2_HUMAN	galactosidase, beta 1-like 2 precursor	579					carbohydrate metabolic process	extracellular region	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			ovary(1)|pancreas(1)|skin(1)	3	all_hematologic(175;0.127)	all_cancers(12;2.85e-18)|all_epithelial(12;1.21e-12)|all_lung(97;0.000276)|Lung NSC(97;0.000518)|Breast(109;0.00122)|Medulloblastoma(222;0.0399)|all_neural(223;0.0412)|Esophageal squamous(93;0.0844)		Epithelial(10;1.37e-11)|all cancers(11;2.2e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000885)|Lung(977;0.223)		TGTATTCATCAATGGCCAGAA	0.547												
ERC1	23085	broad.mit.edu	37	12	1137182	1137182	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr12:1137182C>T	uc001qjb.2	+	2	354	c.113C>T	c.(112-114)ACG>ATG	p.T38M	ERC1_uc001qiz.2_RNA|ERC1_uc001qjc.2_Missense_Mutation_p.T38M|ERC1_uc001qja.2_RNA|ERC1_uc001qjd.2_RNA|ERC1_uc001qjf.2_Missense_Mutation_p.T38M	NM_178040	NP_829884	Q8IUD2	RB6I2_HUMAN	RAB6-interacting protein 2 isoform epsilon	38					I-kappaB phosphorylation|multicellular organismal development|positive regulation of anti-apoptosis|positive regulation of NF-kappaB transcription factor activity|protein transport	Golgi membrane|IkappaB kinase complex|presynaptic membrane	leucine zipper domain binding			ovary(2)|lung(2)|breast(1)	5	all_epithelial(11;0.0698)|Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00239)|BRCA - Breast invasive adenocarcinoma(9;0.0567)			ACCAACAGTACGGGAGGGAGT	0.577												
FOXM1	2305	broad.mit.edu	37	12	2983600	2983600	+	Silent	SNP	C	C	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr12:2983600C>T	uc001qlf.2	-	2	310	c.45G>A	c.(43-45)AGG>AGA	p.R15R	TULP3_uc010sef.1_5'Flank|FOXM1_uc001qle.2_Silent_p.R15R|FOXM1_uc001qlg.2_Silent_p.R15R|FOXM1_uc009zea.2_Silent_p.R15R|FOXM1_uc009zeb.2_Silent_p.R15R|C12orf32_uc001qlh.2_5'Flank|C12orf32_uc010see.1_5'Flank|C12orf32_uc001qli.2_5'Flank	NM_021953	NP_068772	Q08050	FOXM1_HUMAN	forkhead box M1 isoform 2	15					cell cycle|embryo development|liver development|negative regulation of cell aging|negative regulation of stress-activated MAPK cascade|negative regulation of transcription from RNA polymerase II promoter|pattern specification process|positive regulation of cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of cell growth|regulation of cell proliferation|regulation of oxygen and reactive oxygen species metabolic process|regulation of Ras protein signal transduction|regulation of reactive oxygen species metabolic process|regulation of sequence-specific DNA binding transcription factor activity|tissue development|transcription from RNA polymerase II promoter|vasculogenesis	cytoplasm|transcription factor complex	DNA bending activity|DNA binding|DNA binding|double-stranded DNA binding|promoter binding|protein binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sequence-specific DNA binding transcription factor activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|transcription factor binding			central_nervous_system(1)|skin(1)	2			OV - Ovarian serous cystadenocarcinoma(31;0.000622)			GAAGGGGCAGCCTCCGTCTTT	0.498												
KCNA1	3736	broad.mit.edu	37	12	5020676	5020676	+	Silent	SNP	C	C	T	rs139476802		TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr12:5020676C>T	uc001qnh.2	+	2	1237	c.132C>T	c.(130-132)TCC>TCT	p.S44S		NM_000217	NP_000208	Q09470	KCNA1_HUMAN	potassium voltage-gated channel subfamily A	44					synaptic transmission	juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium ion transmembrane transporter activity			ovary(1)|skin(1)	2					Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	TCAACATCTCCGGGCTGCGCT	0.672												
KCNA5	3741	broad.mit.edu	37	12	5153669	5153669	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr12:5153669A>G	uc001qni.2	+	1	585	c.356A>G	c.(355-357)CAC>CGC	p.H119R		NM_002234	NP_002225	P22460	KCNA5_HUMAN	potassium voltage-gated channel, shaker-related	119						Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity			ovary(2)|breast(2)	4						TCCCTGCACCACCAGCGCGTC	0.706												
VWF	7450	broad.mit.edu	37	12	6161888	6161888	+	Silent	SNP	G	G	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr12:6161888G>A	uc001qnn.1	-	16	2257	c.2007C>T	c.(2005-2007)TGC>TGT	p.C669C	VWF_uc010set.1_Intron	NM_000552	NP_000543	P04275	VWF_HUMAN	von Willebrand factor preproprotein	669	TIL 2.				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding			skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|breast(1)	12					Antihemophilic Factor(DB00025)	AGAGAGAGCGGCAGGTCAGGT	0.612												
TNFRSF1A	7132	broad.mit.edu	37	12	6439831	6439831	+	Silent	SNP	A	A	G			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr12:6439831A>G	uc001qnu.2	-	7	953	c.672T>C	c.(670-672)CTT>CTC	p.L224L	TNFRSF1A_uc001qnt.2_Silent_p.L116L|TNFRSF1A_uc010sey.1_5'UTR|TNFRSF1A_uc010sez.1_Silent_p.L116L|TNFRSF1A_uc009zek.2_Silent_p.L181L	NM_001065	NP_001056	P19438	TNR1A_HUMAN	tumor necrosis factor receptor 1 precursor	224	Helical; (Potential).				apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|inflammatory response|interspecies interaction between organisms|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of inflammatory response|positive regulation of transcription from RNA polymerase II promoter|prostaglandin metabolic process	extracellular region|integral to plasma membrane|membrane raft	tumor necrosis factor receptor activity			lung(2)|skin(1)	3						GGAGGGATAAAAGGCAAAGAC	0.547												
CLSTN3	9746	broad.mit.edu	37	12	7288865	7288865	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr12:7288865G>A	uc001qsr.2	+	6	1084	c.806G>A	c.(805-807)CGC>CAC	p.R269H	CLSTN3_uc001qss.2_Missense_Mutation_p.R281H	NM_014718	NP_055533	Q9BQT9	CSTN3_HUMAN	calsyntenin 3 precursor	269	Extracellular (Potential).				homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding			large_intestine(1)	1						CCTGGTATCCGCCTGGAGACC	0.557												
SLC2A14	144195	broad.mit.edu	37	12	7967113	7967113	+	Silent	SNP	G	G	A	rs146444974	byFrequency	TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr12:7967113G>A	uc001qtk.2	-	16	2155	c.1362C>T	c.(1360-1362)TAC>TAT	p.Y454Y	SLC2A14_uc001qtl.2_Silent_p.Y431Y|SLC2A14_uc001qtm.2_Silent_p.Y431Y|SLC2A14_uc010sgg.1_Silent_p.Y345Y|SLC2A14_uc001qtn.2_Silent_p.Y454Y|SLC2A14_uc001qto.2_Silent_p.Y89Y|SLC2A14_uc010sgh.1_Silent_p.Y469Y	NM_153449	NP_703150	Q8TDB8	GTR14_HUMAN	glucose transporter 14	454	Helical; Name=12; (Potential).				cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane	glucose transmembrane transporter activity			ovary(1)	1				Kidney(36;0.0883)		TAATAAAAACGTAGGCTCCTA	0.398												
A2M	2	broad.mit.edu	37	12	9246106	9246106	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr12:9246106C>T	uc001qvk.1	-	18	2308	c.2195G>A	c.(2194-2196)CGA>CAA	p.R732Q	A2M_uc009zgk.1_Missense_Mutation_p.R582Q	NM_000014	NP_000005	P01023	A2MG_HUMAN	alpha-2-macroglobulin precursor	732	Inhibitory.				blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|extracellular space|platelet alpha granule lumen	enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding			central_nervous_system(4)|skin(1)	5					Bacitracin(DB00626)|Becaplermin(DB00102)	GAAGTACTTTCGTACGGTCTC	0.458												
PZP	5858	broad.mit.edu	37	12	9309872	9309872	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr12:9309872A>G	uc001qvl.2	-	28	3478	c.3449T>C	c.(3448-3450)GTC>GCC	p.V1150A	PZP_uc009zgl.2_Missense_Mutation_p.V936A	NM_002864	NP_002855			pregnancy-zone protein precursor											ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1)	5						CTTGGTGTAGACATGGCTCCC	0.463												
KLRD1	3824	broad.mit.edu	37	12	10462078	10462078	+	Missense_Mutation	SNP	T	T	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr12:10462078T>A	uc001qxw.3	+	3	296	c.99T>A	c.(97-99)AAT>AAA	p.N33K	KLRD1_uc001qxx.3_Missense_Mutation_p.N33K|KLRD1_uc001qxy.3_Intron|KLRD1_uc009zhh.2_Missense_Mutation_p.N33K|KLRD1_uc009zhi.2_Missense_Mutation_p.N33K|KLRD1_uc001qxz.3_Missense_Mutation_p.N33K	NM_001114396	NP_001107868	Q13241	KLRD1_HUMAN	killer cell lectin-like receptor subfamily D,	33	Extracellular (Potential).				cell surface receptor linked signaling pathway|regulation of immune response	integral to membrane|plasma membrane	sugar binding|transmembrane receptor activity				0						TGTTGAAAAATTGTAAGTTTT	0.323												
KLRC1	3821	broad.mit.edu	37	12	10603715	10603715	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr12:10603715G>A	uc001qyl.2	-	2	205	c.41C>T	c.(40-42)CCC>CTC	p.P14L	KLRC1_uc009zhm.1_Missense_Mutation_p.P14L|KLRC1_uc001qym.2_Missense_Mutation_p.P14L|KLRC1_uc001qyn.2_Missense_Mutation_p.P14L|KLRC1_uc001qyo.2_Missense_Mutation_p.P14L	NM_002259	NP_002250	P26715	NKG2A_HUMAN	killer cell lectin-like receptor subfamily C,	14	Cytoplasmic (Potential).				cell surface receptor linked signaling pathway|regulation of immune response	integral to plasma membrane	sugar binding|transmembrane receptor activity				0						TGGGTTTGGGGGCAGATTCAG	0.388												
ETV6	2120	broad.mit.edu	37	12	11992235	11992235	+	Missense_Mutation	SNP	T	T	G			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr12:11992235T>G	uc001qzz.2	+	3	599	c.325T>G	c.(325-327)TCA>GCA	p.S109A		NM_001987	NP_001978	P41212	ETV6_HUMAN	ets variant 6	109	PNT.					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)				ATCTCCTCATTCAGGTGAGAG	0.468			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							
MANSC1	54682	broad.mit.edu	37	12	12483888	12483888	+	Silent	SNP	A	A	G			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr12:12483888A>G	uc001rai.1	-	4	627	c.369T>C	c.(367-369)TTT>TTC	p.F123F	MANSC1_uc010shm.1_Silent_p.F57F|MANSC1_uc001raj.1_Silent_p.F89F|MANSC1_uc009zht.1_Silent_p.F42F	NM_018050	NP_060520	Q9H8J5	MANS1_HUMAN	MANSC domain containing 1 precursor	123	Extracellular (Potential).					integral to membrane					0		Prostate(47;0.0865)		BRCA - Breast invasive adenocarcinoma(232;0.185)		TCAAAGATGGAAAATCTGAAA	0.393												
DUSP16	80824	broad.mit.edu	37	12	12630143	12630143	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr12:12630143G>A	uc001rao.1	-	7	2254	c.1622C>T	c.(1621-1623)TCG>TTG	p.S541L	DUSP16_uc001ram.1_5'Flank|DUSP16_uc001ran.1_Missense_Mutation_p.S393L	NM_030640	NP_085143	Q9BY84	DUS16_HUMAN	dual specificity phosphatase 16	541					inactivation of MAPK activity|MAPK export from nucleus|MAPK phosphatase export from nucleus, leptomycin B sensitive	cytoplasmic membrane-bounded vesicle|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity				0		Prostate(47;0.0687)		BRCA - Breast invasive adenocarcinoma(232;0.0203)		CAAGATATCCGAGTGCCAGCC	0.577												
PYROXD1	79912	broad.mit.edu	37	12	21605065	21605065	+	Silent	SNP	C	C	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr12:21605065C>T	uc001rew.2	+	5	592	c.465C>T	c.(463-465)AAC>AAT	p.N155N	PYROXD1_uc009ziq.2_Intron|PYROXD1_uc009zir.2_Intron	NM_024854	NP_079130	Q8WU10	PYRD1_HUMAN	pyridine nucleotide-disulphide oxidoreductase	155							oxidoreductase activity			ovary(1)	1						TCATAGGGAACGGTGGTATTG	0.224												
ABCC9	10060	broad.mit.edu	37	12	21954066	21954066	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr12:21954066C>T	uc001rfh.2	-	38	4582	c.4562G>A	c.(4561-4563)CGA>CAA	p.R1521Q	ABCC9_uc001rfg.2_Missense_Mutation_p.R50Q	NM_020297	NP_064693	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C, member 9	1521	Cytoplasmic (Potential).|ABC transporter 2.				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			ovary(4)|skin(2)	6					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	AATATTTCCTCGCTTCATCAC	0.423												
ITPR2	3709	broad.mit.edu	37	12	26572089	26572089	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr12:26572089G>A	uc001rhg.2	-	50	7420	c.7003C>T	c.(7003-7005)CGT>TGT	p.R2335C	ITPR2_uc009zjg.1_Missense_Mutation_p.R486C	NM_002223	NP_002214	Q14571	ITPR2_HUMAN	inositol 1,4,5-triphosphate receptor, type 2	2335	Extracellular (Potential).				activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity			kidney(6)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	14	Colorectal(261;0.0847)					CGGTACCCACGGGTGAACGTG	0.433												
FAR2	55711	broad.mit.edu	37	12	29469773	29469773	+	Splice_Site	SNP	G	G	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr12:29469773G>A	uc001ris.3	+	9	1103	c.956_splice	c.e9-1	p.G319_splice	FAR2_uc001rit.2_Splice_Site_p.G319_splice|FAR2_uc009zjm.2_Splice_Site_p.G222_splice|uc001riu.1_Intron	NM_018099	NP_060569	Q96K12	FACR2_HUMAN	fatty acyl CoA reductase 2						ether lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane	binding|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor				0						TTTTTCCCCAGGAGTCCAAGT	0.398												
PRICKLE1	144165	broad.mit.edu	37	12	42860085	42860085	+	Missense_Mutation	SNP	C	C	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr12:42860085C>A	uc010skv.1	-	6	973	c.686G>T	c.(685-687)AGG>ATG	p.R229M	PRICKLE1_uc001rnl.2_Missense_Mutation_p.R229M|PRICKLE1_uc010skw.1_Missense_Mutation_p.R229M|PRICKLE1_uc001rnm.2_Missense_Mutation_p.R229M	NM_001144881	NP_001138353	Q96MT3	PRIC1_HUMAN	prickle homolog 1	229	LIM zinc-binding 2.				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cardiac muscle cell myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein import into nucleus	cytosol|nuclear membrane	zinc ion binding			ovary(3)|skin(1)	4	all_cancers(12;4.25e-05)|Breast(8;0.176)			GBM - Glioblastoma multiforme(48;0.2)		CATGATATACCTCTGTCCTCC	0.498												
SLC38A1	81539	broad.mit.edu	37	12	46592455	46592455	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr12:46592455C>T	uc001rpa.2	-	14	1333	c.1075G>A	c.(1075-1077)GCT>ACT	p.A359T	SLC38A1_uc001rpb.2_Missense_Mutation_p.A359T|SLC38A1_uc001rpc.2_Missense_Mutation_p.A359T|SLC38A1_uc001rpd.2_Missense_Mutation_p.A359T|SLC38A1_uc001rpe.2_Missense_Mutation_p.A359T|SLC38A1_uc009zkj.1_Missense_Mutation_p.A359T	NM_030674	NP_109599	Q9H2H9	S38A1_HUMAN	amino acid transporter system A1	359	Helical; (Potential).				cellular nitrogen compound metabolic process|neurotransmitter uptake	integral to membrane|plasma membrane	sodium:amino acid symporter activity			ovary(2)|skin(2)|central_nervous_system(1)	5	Lung SC(27;0.137)|Renal(347;0.236)		all cancers(1;0.00805)|OV - Ovarian serous cystadenocarcinoma(5;0.0106)|Epithelial(2;0.0344)			ACAATGACAGCCAGCCGCACT	0.468												
MLL2	8085	broad.mit.edu	37	12	49443676	49443676	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr12:49443676G>A	uc001rta.3	-	11	3695	c.3695C>T	c.(3694-3696)CCG>CTG	p.P1232L		NM_003482	NP_003473	O14686	MLL2_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 2	1232					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						ACCCCCCTCCGGGTCTGGAGA	0.587			N|F|Mis		medulloblastoma|renal					HNSCC(34;0.089)		
TUBA1B	10376	broad.mit.edu	37	12	49523374	49523374	+	Silent	SNP	T	T	G			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr12:49523374T>G	uc001rtm.2	-	2	356	c.135A>C	c.(133-135)GGA>GGC	p.G45G	TUBA1B_uc001rto.2_Intron|TUBA1B_uc001rtk.2_Silent_p.G10G|TUBA1B_uc001rtl.2_Silent_p.G10G|TUBA1B_uc001rtn.2_5'UTR	NM_006082	NP_006073	P68363	TBA1B_HUMAN	tubulin, alpha, ubiquitous	45					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding				0						AGGAGTCATCTCCTCCCCCAA	0.572												
SPATS2	65244	broad.mit.edu	37	12	49893963	49893963	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr12:49893963C>T	uc001rud.2	+	9	1803	c.814C>T	c.(814-816)CAA>TAA	p.Q272*	SPATS2_uc001rue.2_RNA|SPATS2_uc009zli.1_Nonsense_Mutation_p.Q272*|SPATS2_uc001ruf.2_Nonsense_Mutation_p.Q272*|SPATS2_uc001rug.2_Nonsense_Mutation_p.Q272*	NM_023071	NP_075559	Q86XZ4	SPAS2_HUMAN	spermatogenesis associated, serine-rich 2	272						cytoplasm				breast(1)	1						GAAAATGAAACAAGCCTTTGC	0.383												
BIN2	51411	broad.mit.edu	37	12	51693477	51693477	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr12:51693477G>A	uc001ryg.2	-	6	482	c.430C>T	c.(430-432)CGG>TGG	p.R144W	BIN2_uc009zlz.2_Missense_Mutation_p.R112W|BIN2_uc001ryh.2_Missense_Mutation_p.R20W|BIN2_uc010sng.1_Missense_Mutation_p.R118W	NM_016293	NP_057377	Q9UBW5	BIN2_HUMAN	bridging integrator 2	144	BAR.					cytoplasm	protein binding			ovary(1)	1						ACGAGTTTCCGACCCCGCTTG	0.493												
ACVR1B	91	broad.mit.edu	37	12	52369163	52369163	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr12:52369163G>A	uc001rzn.2	+	2	248	c.206G>A	c.(205-207)TGC>TAC	p.C69Y	ACVR1B_uc001rzl.2_Missense_Mutation_p.C69Y|ACVR1B_uc001rzm.2_Missense_Mutation_p.C69Y|ACVR1B_uc010snn.1_Missense_Mutation_p.C69Y	NM_004302	NP_004293	P36896	ACV1B_HUMAN	activin A receptor, type IB isoform a precursor	69	Extracellular (Potential).				G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|peptidyl-threonine phosphorylation|positive regulation of activin receptor signaling pathway|positive regulation of erythrocyte differentiation|protein autophosphorylation|transmembrane receptor protein serine/threonine kinase signaling pathway	cell surface	activin receptor activity, type I|ATP binding|metal ion binding|SMAD binding|transforming growth factor beta receptor activity|ubiquitin protein ligase binding			pancreas(4)|breast(2)|ovary(1)|lung(1)|kidney(1)	9				BRCA - Breast invasive adenocarcinoma(357;0.104)	Adenosine triphosphate(DB00171)	GTGCGCACCTGCATCCCCAAA	0.587												
ACVR1B	91	broad.mit.edu	37	12	52387827	52387827	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr12:52387827G>A	uc001rzn.2	+	9	1493	c.1451G>A	c.(1450-1452)CGC>CAC	p.R484H	ACVR1B_uc010snn.1_Missense_Mutation_p.R525H	NM_004302	NP_004293	P36896	ACV1B_HUMAN	activin A receptor, type IB isoform a precursor	484	Protein kinase.|Cytoplasmic (Potential).				G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|peptidyl-threonine phosphorylation|positive regulation of activin receptor signaling pathway|positive regulation of erythrocyte differentiation|protein autophosphorylation|transmembrane receptor protein serine/threonine kinase signaling pathway	cell surface	activin receptor activity, type I|ATP binding|metal ion binding|SMAD binding|transforming growth factor beta receptor activity|ubiquitin protein ligase binding			pancreas(4)|breast(2)|ovary(1)|lung(1)|kidney(1)	9				BRCA - Breast invasive adenocarcinoma(357;0.104)	Adenosine triphosphate(DB00171)	GGCGCAGCCCGCCTGACGGCC	0.622												
EIF4B	1975	broad.mit.edu	37	12	53428436	53428436	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr12:53428436C>T	uc001sbh.3	+	10	1455	c.1249C>T	c.(1249-1251)CGG>TGG	p.R417W	EIF4B_uc010snu.1_Missense_Mutation_p.R417W|EIF4B_uc010snv.1_Missense_Mutation_p.R378W|EIF4B_uc001sbi.2_Missense_Mutation_p.R169W	NM_001417	NP_001408	P23588	IF4B_HUMAN	eukaryotic translation initiation factor 4B	417					insulin receptor signaling pathway|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	nucleotide binding|translation initiation factor activity			breast(1)|kidney(1)	2						GGAACGGGAACGGTCGAGGAC	0.502												
OR6C2	341416	broad.mit.edu	37	12	55846644	55846644	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr12:55846644A>G	uc001sgz.1	+	1	647	c.647A>G	c.(646-648)TAC>TGC	p.Y216C		NM_054105	NP_473446	Q9NZP2	OR6C2_HUMAN	olfactory receptor, family 6, subfamily C,	216	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)	2						ATTCTGTCCTACTTGTACATA	0.398												
GLS2	27165	broad.mit.edu	37	12	56867049	56867049	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr12:56867049C>T	uc001slj.2	-	14	1691	c.1412G>A	c.(1411-1413)CGG>CAG	p.R471Q	GLS2_uc009zos.2_RNA|GLS2_uc001slk.2_Missense_Mutation_p.R206Q|GLS2_uc009zot.2_Missense_Mutation_p.R132Q	NM_013267	NP_037399	Q9UI32	GLSL_HUMAN	glutaminase 2 precursor	471					cellular amino acid biosynthetic process|glutamate secretion|glutamine metabolic process|neurotransmitter secretion	mitochondrial matrix	glutaminase activity|protein binding			ovary(1)|central_nervous_system(1)	2					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	GTCTAACTTCCGAGCACAGTG	0.363												
BAZ2A	11176	broad.mit.edu	37	12	56995394	56995394	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr12:56995394G>A	uc001slq.1	-	20	4207	c.4013C>T	c.(4012-4014)CCG>CTG	p.P1338L	BAZ2A_uc001slp.1_Missense_Mutation_p.P1336L|BAZ2A_uc001slo.1_Missense_Mutation_p.P166L|BAZ2A_uc009zov.1_Missense_Mutation_p.P308L|BAZ2A_uc009zow.1_Missense_Mutation_p.P1306L	NM_013449	NP_038477	Q9UIF9	BAZ2A_HUMAN	bromodomain adjacent to zinc finger domain, 2A	1338	Pro-rich.				chromatin silencing at rDNA|DNA methylation|transcription, DNA-dependent	chromatin silencing complex|nucleolus|rDNA heterochromatin	DNA binding|histone acetyl-lysine binding|ligand-dependent nuclear receptor binding|RNA binding|zinc ion binding				0						TGCAGGGGGCGGTGTGGGGGC	0.567												
NXPH4	11247	broad.mit.edu	37	12	57619197	57619197	+	Silent	SNP	A	A	G			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr12:57619197A>G	uc010srf.1	+	2	769	c.594A>G	c.(592-594)GCA>GCG	p.A198A	NXPH4_uc009zpj.2_Silent_p.A4A	NM_007224	NP_009155	O95158	NXPH4_HUMAN	neurexophilin 4 precursor	198	IV (linker domain).				neuropeptide signaling pathway	extracellular region					0						TGGCAGCAGCAGCGGCGGGGC	0.751												
DPY19L2	283417	broad.mit.edu	37	12	64062022	64062022	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr12:64062022G>A	uc001srp.1	-	1	333	c.152C>T	c.(151-153)TCC>TTC	p.S51F	DPY19L2_uc009zqk.1_RNA	NM_173812	NP_776173	Q6NUT2	D19L2_HUMAN	dpy-19-like 2	51					multicellular organismal development|spermatid development	integral to membrane				central_nervous_system(1)|skin(1)	2			GBM - Glioblastoma multiforme(1;2.77e-05)	GBM - Glioblastoma multiforme(28;0.044)		GGACCTCCAGGAGCCCCTTGG	0.642												
GRIP1	23426	broad.mit.edu	37	12	66838485	66838485	+	Silent	SNP	G	G	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr12:66838485G>A	uc001stk.2	-	12	1651	c.1410C>T	c.(1408-1410)GAC>GAT	p.D470D	GRIP1_uc010sta.1_Silent_p.D414D|GRIP1_uc001stj.2_Silent_p.D252D|GRIP1_uc001stl.1_Silent_p.D362D|GRIP1_uc001stm.2_Silent_p.D470D	NM_021150	NP_066973	Q9Y3R0	GRIP1_HUMAN	glutamate receptor interacting protein 1	522	PDZ 4.				androgen receptor signaling pathway|intracellular signal transduction|positive regulation of transcription, DNA-dependent|synaptic transmission	cell junction|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|postsynaptic membrane	androgen receptor binding|beta-catenin binding|protein C-terminus binding|receptor signaling complex scaffold activity|transcription coactivator activity			ovary(2)	2			GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)		CCATCACTCTGTCTCCAATCT	0.468												
NUP107	57122	broad.mit.edu	37	12	69085873	69085873	+	Missense_Mutation	SNP	G	G	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr12:69085873G>T	uc001suf.2	+	5	544	c.429G>T	c.(427-429)GAG>GAT	p.E143D	NUP107_uc001sug.2_Intron|NUP107_uc010stj.1_Missense_Mutation_p.E114D	NM_020401	NP_065134	P57740	NU107_HUMAN	nucleoporin 107kDa	143					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding			skin(1)	1	Breast(13;6.25e-06)		Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694)			TGTTACGTGAGGATGATCCTG	0.443												
NUP107	57122	broad.mit.edu	37	12	69109462	69109462	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr12:69109462A>G	uc001suf.2	+	12	1140	c.1025A>G	c.(1024-1026)GAT>GGT	p.D342G	NUP107_uc001sug.2_Missense_Mutation_p.D189G|NUP107_uc010stj.1_Missense_Mutation_p.D313G	NM_020401	NP_065134	P57740	NU107_HUMAN	nucleoporin 107kDa	342					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding			skin(1)	1	Breast(13;6.25e-06)		Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694)			GATAGAGAAGATGAAGTTAGA	0.358												
FRS2	10818	broad.mit.edu	37	12	69967824	69967824	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr12:69967824C>T	uc001suy.2	+	10	1126	c.616C>T	c.(616-618)CGG>TGG	p.R206W	FRS2_uc001suz.2_Missense_Mutation_p.R206W|FRS2_uc009zrj.2_Missense_Mutation_p.R206W|FRS2_uc009zrk.2_Missense_Mutation_p.R206W	NM_006654	NP_006645	Q8WU20	FRS2_HUMAN	fibroblast growth factor receptor substrate 2	206					activation of MAPKK activity|activation of phospholipase C activity|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|transmembrane receptor protein tyrosine phosphatase signaling pathway	endomembrane system|endosome|integral to plasma membrane|membrane fraction	fibroblast growth factor receptor binding|insulin receptor binding|phosphatase activator activity|transmembrane receptor protein tyrosine kinase adaptor activity			prostate(1)|kidney(1)	2	Breast(13;2.15e-06)|Esophageal squamous(21;0.187)		Epithelial(6;2.94e-18)|Lung(24;9.68e-05)|OV - Ovarian serous cystadenocarcinoma(12;0.000984)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)			GCAAGAAGAGCGGAAAAACCG	0.398												
CAPS2	84698	broad.mit.edu	37	12	75687145	75687145	+	Silent	SNP	A	A	G			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr12:75687145A>G	uc001sxk.3	-	13	1301	c.1104T>C	c.(1102-1104)GGT>GGC	p.G368G	CAPS2_uc001sxm.3_Silent_p.G136G|CAPS2_uc009zsa.2_5'UTR|CAPS2_uc001sxi.3_Silent_p.G104G|CAPS2_uc001sxj.3_Silent_p.G279G|CAPS2_uc001sxl.3_Silent_p.G349G	NM_032606	NP_115995	Q9BXY5	CAYP2_HUMAN	calcyphosine 2	368							calcium ion binding			ovary(2)	2						TCAAGGTTGCACCCTAAACAA	0.308												
KRR1	11103	broad.mit.edu	37	12	75900126	75900126	+	Silent	SNP	T	T	C			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr12:75900126T>C	uc001sxt.2	-	5	614	c.573A>G	c.(571-573)TCA>TCG	p.S191S	KRR1_uc009zsc.2_Silent_p.S191S|KRR1_uc010stx.1_3'UTR	NM_007043	NP_008974	Q13601	KRR1_HUMAN	HIV-1 rev binding protein 2	191	KH.				rRNA processing	nucleolus|ribonucleoprotein complex	RNA binding			ovary(1)|pancreas(1)	2						GTCCAATGGCTGAAACTGTGT	0.308												
LRRIQ1	84125	broad.mit.edu	37	12	85466854	85466854	+	Silent	SNP	T	T	C			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr12:85466854T>C	uc001tac.2	+	11	2976	c.2865T>C	c.(2863-2865)CTT>CTC	p.L955L	LRRIQ1_uc001tab.1_Silent_p.L955L	NM_001079910	NP_001073379	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	955										ovary(4)|central_nervous_system(1)|skin(1)	6				GBM - Glioblastoma multiforme(134;0.212)		GTAATTTCCTTATCTCCCACT	0.239												
KITLG	4254	broad.mit.edu	37	12	88912617	88912617	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr12:88912617C>T	uc001tav.2	-	4	403	c.220G>A	c.(220-222)GTA>ATA	p.V74I	KITLG_uc009zsn.2_Missense_Mutation_p.V2I|KITLG_uc001taw.2_Missense_Mutation_p.V74I|KITLG_uc009zso.1_Intron	NM_000899	NP_000890	P21583	SCF_HUMAN	KIT ligand isoform b precursor	74	Extracellular (Potential).				cell adhesion|cell proliferation|hemopoiesis|male gonad development|positive regulation of DNA replication|signal transduction	cytoplasm|cytoskeleton|integral to membrane|plasma membrane	growth factor activity|identical protein binding|stem cell factor receptor binding			ovary(1)	1						AATTGTACTACCATCTCGCTT	0.348									Testicular_Cancer_Familial_Clustering_of			
UBE3B	89910	broad.mit.edu	37	12	109935694	109935694	+	Missense_Mutation	SNP	C	C	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr12:109935694C>A	uc001top.2	+	10	1388	c.785C>A	c.(784-786)GCT>GAT	p.A262D	UBE3B_uc001toq.2_Missense_Mutation_p.A262D|UBE3B_uc001too.1_RNA|UBE3B_uc009zvj.1_Missense_Mutation_p.A262D	NM_130466	NP_569733	Q7Z3V4	UBE3B_HUMAN	ubiquitin protein ligase E3B	262					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity			ovary(2)|lung(2)	4						TCTGTGCCTGCTCTGGTGACT	0.473												
TRPV4	59341	broad.mit.edu	37	12	110226265	110226265	+	Silent	SNP	G	G	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr12:110226265G>T	uc001tpj.1	-	12	2243	c.2148C>A	c.(2146-2148)GCC>GCA	p.A716A	TRPV4_uc001tpg.1_Silent_p.A682A|TRPV4_uc001tph.1_Silent_p.A669A|TRPV4_uc001tpi.1_Silent_p.A609A|TRPV4_uc001tpk.1_Silent_p.A716A|TRPV4_uc001tpl.1_Silent_p.A656A	NM_021625	NP_067638	Q9HBA0	TRPV4_HUMAN	transient receptor potential cation channel,	716	Cytoplasmic (Potential).		A -> S (in SMDK).		actin cytoskeleton reorganization|actin filament organization|calcium ion import|cell death|cell volume homeostasis|cell-cell junction assembly|cellular hypotonic response|cortical microtubule organization|elevation of cytosolic calcium ion concentration|microtubule polymerization|negative regulation of neuron projection development|osmosensory signaling pathway|positive regulation of microtubule depolymerization|response to mechanical stimulus	cortical actin cytoskeleton|filopodium|focal adhesion|growth cone|integral to membrane|lamellipodium|ruffle membrane	actin filament binding|alpha-tubulin binding|beta-tubulin binding|calcium channel activity|calmodulin binding|microtubule binding|protein binding|protein kinase C binding|SH2 domain binding			ovary(2)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	4						CGCCCATGAGGGCAATGAGCA	0.597												
ACAD10	80724	broad.mit.edu	37	12	112191598	112191598	+	Missense_Mutation	SNP	G	G	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr12:112191598G>T	uc001tsq.2	+	19	3040	c.2840G>T	c.(2839-2841)GGG>GTG	p.G947V	ACAD10_uc009zvx.2_Missense_Mutation_p.G978V|ACAD10_uc001tss.1_Intron	NM_025247	NP_079523	Q6JQN1	ACD10_HUMAN	acyl-Coenzyme A dehydrogenase family, member 10	947							acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|hydrolase activity|transferase activity, transferring phosphorus-containing groups			ovary(2)	2						TTGGCTTTTGGGAAGCCCCTG	0.672											OREG0022130	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
C12orf51	283450	broad.mit.edu	37	12	112691953	112691953	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr12:112691953G>A	uc009zwc.2	-	15	2063	c.2045C>T	c.(2044-2046)GCG>GTG	p.A682V	C12orf51_uc010syk.1_Missense_Mutation_p.A514V|C12orf51_uc001tts.2_Missense_Mutation_p.A505V|C12orf51_uc001ttt.3_Missense_Mutation_p.A503V	NM_001109662	NP_001103132			chromosome 12 open reading frame 51											ovary(1)|lung(1)	2						GTTAGGCCCCGCATATATCAC	0.388												
RBM19	9904	broad.mit.edu	37	12	114397939	114397939	+	Silent	SNP	G	G	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr12:114397939G>A	uc009zwi.2	-	3	408	c.264C>T	c.(262-264)GCC>GCT	p.A88A	RBM19_uc001tvn.3_Silent_p.A88A|RBM19_uc001tvm.2_Silent_p.A88A	NM_001146699	NP_001140171	Q9Y4C8	RBM19_HUMAN	RNA binding motif protein 19	88					multicellular organismal development|positive regulation of embryonic development	chromosome|cytoplasm|nucleolus|nucleoplasm	nucleotide binding|RNA binding			skin(3)|ovary(1)|liver(1)|central_nervous_system(1)	6	Medulloblastoma(191;0.163)|all_neural(191;0.178)					GTTTGCTCCAGGCTCTGGGTT	0.532												
HNF1A	6927	broad.mit.edu	37	12	121426811	121426811	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr12:121426811C>T	uc001tzg.2	+	2	525	c.502C>T	c.(502-504)CGC>TGC	p.R168C	HNF1A_uc001tze.1_Missense_Mutation_p.R168C|HNF1A_uc001tzf.2_Missense_Mutation_p.R168C|HNF1A_uc010szn.1_Missense_Mutation_p.R168C	NM_000545	NP_000536	P20823	HNF1A_HUMAN	hepatic nuclear factor-1-alpha	168					glucose homeostasis|glucose import|insulin secretion|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|renal glucose absorption	cytoplasm|nucleus|protein complex	DNA binding|protein dimerization activity|protein heterodimerization activity|protein homodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	p.R168C(1)		liver(92)|large_intestine(15)|endometrium(6)|breast(2)|lung(1)	116	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					CTGGTACGTCCGCAAGCAGCG	0.617									Hepatic_Adenoma_Familial_Clustering_of			
DHX37	57647	broad.mit.edu	37	12	125434766	125434766	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr12:125434766C>T	uc001ugy.2	-	24	3244	c.3145G>A	c.(3145-3147)GCC>ACC	p.A1049T	DHX37_uc001ugz.1_Missense_Mutation_p.A136T	NM_032656	NP_116045	Q8IY37	DHX37_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 37	1049							ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			skin(1)	1	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653)		ACCTCGATGGCGGGGAGCGGC	0.652												
SLC15A4	121260	broad.mit.edu	37	12	129283815	129283815	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr12:129283815T>C	uc001uhu.2	-	7	1615	c.1562A>G	c.(1561-1563)CAC>CGC	p.H521R	SLC15A4_uc001uhv.2_RNA	NM_145648	NP_663623	Q8N697	S15A4_HUMAN	solute carrier family 15, member 4	521					oligopeptide transport|protein transport	integral to membrane|lysosomal membrane	peptide:hydrogen symporter activity				0	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.69e-06)|Epithelial(86;1.17e-05)|all cancers(50;5.07e-05)		AAAGTCTGTGTGACTGCTCAT	0.532												
TMEM132D	121256	broad.mit.edu	37	12	129559044	129559044	+	Silent	SNP	C	C	A	rs143332531	by1000genomes	TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr12:129559044C>A	uc009zyl.1	-	9	3004	c.2676G>T	c.(2674-2676)GTG>GTT	p.V892V	TMEM132D_uc001uia.2_Silent_p.V430V	NM_133448	NP_597705	Q14C87	T132D_HUMAN	transmembrane protein 132D precursor	892	Extracellular (Potential).					integral to membrane				ovary(10)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	14	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		TGGGGAGGTCCACCTGGGCTG	0.532												
TMEM132D	121256	broad.mit.edu	37	12	130184741	130184741	+	Silent	SNP	G	G	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr12:130184741G>A	uc009zyl.1	-	2	910	c.582C>T	c.(580-582)GCC>GCT	p.A194A		NM_133448	NP_597705	Q14C87	T132D_HUMAN	transmembrane protein 132D precursor	194	Extracellular (Potential).					integral to membrane				ovary(10)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	14	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		GCTCCAGCTCGGCCACGCACA	0.701												
FZD10	11211	broad.mit.edu	37	12	130647661	130647661	+	Missense_Mutation	SNP	C	C	G			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr12:130647661C>G	uc001uii.2	+	1	630	c.174C>G	c.(172-174)CAC>CAG	p.H58Q	uc001uig.1_5'Flank|uc001uih.1_5'Flank	NM_007197	NP_009128	Q9ULW2	FZD10_HUMAN	frizzled 10 precursor	58	FZ.|Extracellular (Potential).				brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|gonad development|negative regulation of Rho GTPase activity|neuron differentiation|non-canonical Wnt receptor signaling pathway|positive regulation of JUN kinase activity|positive regulation of Rac GTPase activity|regulation of actin cytoskeleton organization|vasculature development	cell projection|cell surface|cytoplasm|integral to plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			lung(3)|breast(1)|central_nervous_system(1)	5	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05)		TGATGGGCCACGAGAACCAGC	0.632												
ZNF10	7556	broad.mit.edu	37	12	133732657	133732657	+	Silent	SNP	C	C	T	rs11147260		TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr12:133732657C>T	uc009zzb.2	+	5	1272	c.825C>T	c.(823-825)AGC>AGT	p.S275S	ZNF268_uc010tbv.1_Intron|ZNF10_uc001ulq.2_Silent_p.S275S	NM_015394	NP_056209	P21506	ZNF10_HUMAN	zinc finger protein 10	275	C2H2-type 2.			Missing (in Ref. 1).	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|skin(1)	3	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;1.28e-06)|all_epithelial(31;0.0051)|Lung NSC(355;0.00948)		OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05)		AATTCTTCAGCTGGCGCTCTA	0.398												
PARP4	143	broad.mit.edu	37	13	25030523	25030523	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr13:25030523G>A	uc001upl.2	-	21	2624	c.2518C>T	c.(2518-2520)CTC>TTC	p.L840F	PARP4_uc010tdc.1_Missense_Mutation_p.L840F	NM_006437	NP_006428	Q9UKK3	PARP4_HUMAN	poly (ADP-ribose) polymerase family, member 4	840					cell death|DNA repair|inflammatory response|protein ADP-ribosylation|response to drug|transport	cytoplasm|nucleus|ribonucleoprotein complex|spindle microtubule	DNA binding|enzyme binding|NAD+ ADP-ribosyltransferase activity			ovary(3)|skin(1)	4		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)		ATTCTTGGGAGATAGGCAGCA	0.423												
RNF17	56163	broad.mit.edu	37	13	25376644	25376644	+	Silent	SNP	G	G	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr13:25376644G>A	uc001upr.2	+	14	1925	c.1884G>A	c.(1882-1884)CCG>CCA	p.P628P	RNF17_uc010tdd.1_Silent_p.P487P|RNF17_uc010aab.2_RNA|RNF17_uc010tde.1_Silent_p.P628P|RNF17_uc001ups.2_Silent_p.P567P	NM_031277	NP_112567	Q9BXT8	RNF17_HUMAN	ring finger protein 17	628					multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding			ovary(1)|skin(1)	2		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		AACCACCACCGAATAAAATAA	0.323												
PAN3	255967	broad.mit.edu	37	13	28841270	28841270	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr13:28841270G>A	uc001urz.2	+	10	1182	c.1174G>A	c.(1174-1176)GAC>AAC	p.D392N	PAN3_uc010tdo.1_Missense_Mutation_p.D538N|PAN3_uc001ury.2_Missense_Mutation_p.D226N|PAN3_uc001urx.2_Missense_Mutation_p.D338N	NM_175854	NP_787050	Q58A45	PAN3_HUMAN	PABP1-dependent poly A-specific ribonuclease	538	Protein kinase.|Interaction with PAN2.				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening	centrosome|cytosol	ATP binding|protein kinase activity			ovary(1)	1	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)	Colorectal(13;0.000334)	all cancers(112;0.0102)|Epithelial(112;0.0803)|GBM - Glioblastoma multiforme(144;0.121)|OV - Ovarian serous cystadenocarcinoma(117;0.13)|Lung(94;0.174)		GGTGTTGGTCGACATGTGGAA	0.378												
FLT1	2321	broad.mit.edu	37	13	29001439	29001439	+	Silent	SNP	G	G	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr13:29001439G>A	uc001usb.3	-	10	1578	c.1293C>T	c.(1291-1293)TAC>TAT	p.Y431Y	FLT1_uc010aar.1_Silent_p.Y431Y|FLT1_uc001usc.3_Silent_p.Y431Y|FLT1_uc010tdp.1_Silent_p.Y431Y	NM_002019	NP_002010	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1 isoform 1	431	Ig-like C2-type 5.|Extracellular (Potential).				cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	extracellular space|Golgi apparatus|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity			lung(10)|central_nervous_system(5)|ovary(3)|stomach(2)|skin(2)|urinary_tract(1)|breast(1)	24	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Sunitinib(DB01268)	CGGCCTTTTCGTAAATCTGGG	0.493												
SLC46A3	283537	broad.mit.edu	37	13	29286870	29286870	+	Missense_Mutation	SNP	A	A	C			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr13:29286870A>C	uc001usi.2	-	2	1977	c.1007T>G	c.(1006-1008)ATG>AGG	p.M336R	SLC46A3_uc001usg.2_Missense_Mutation_p.M261R|SLC46A3_uc001usj.2_Missense_Mutation_p.M336R|SLC46A3_uc001ush.2_Missense_Mutation_p.M336R|SLC46A3_uc001usk.2_Missense_Mutation_p.M261R	NM_181785	NP_861450	Q7Z3Q1	S46A3_HUMAN	solute carrier family 46, member 3 isoform a	336	Helical; (Potential).				transmembrane transport	integral to membrane				central_nervous_system(1)|skin(1)	2		Lung SC(185;0.0367)		all cancers(112;0.159)		CATTCCTGTCATCGTGGTAAA	0.373												
UBL3	5412	broad.mit.edu	37	13	30341767	30341767	+	Missense_Mutation	SNP	G	G	C			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr13:30341767G>C	uc001usp.2	-	4	1434	c.289C>G	c.(289-291)CCA>GCA	p.P97A		NM_007106	NP_009037	O95164	UBL3_HUMAN	ubiquitin-like 3 precursor	97						intracellular|plasma membrane					0		Lung SC(185;0.0281)		all cancers(112;0.0598)|GBM - Glioblastoma multiforme(144;0.142)|OV - Ovarian serous cystadenocarcinoma(117;0.147)		TGAGAGTTTGGCTCTGGTAAT	0.398												
FRY	10129	broad.mit.edu	37	13	32753081	32753081	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr13:32753081C>T	uc001utx.2	+	22	3278	c.2782C>T	c.(2782-2784)CCC>TCC	p.P928S	FRY_uc010tdw.1_RNA	NM_023037	NP_075463	Q5TBA9	FRY_HUMAN	furry homolog	928					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				ovary(5)|large_intestine(1)|skin(1)	7		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		AGTTGCAAAACCCAGTATTAT	0.443												
FRY	10129	broad.mit.edu	37	13	32821607	32821607	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr13:32821607A>G	uc001utx.2	+	48	7472	c.6976A>G	c.(6976-6978)AAA>GAA	p.K2326E	FRY_uc010tdw.1_RNA	NM_023037	NP_075463	Q5TBA9	FRY_HUMAN	furry homolog	2326					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				ovary(5)|large_intestine(1)|skin(1)	7		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		ATTACCTGGGAAAACCCTGGA	0.408												
FRY	10129	broad.mit.edu	37	13	32850638	32850638	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr13:32850638G>A	uc001utx.2	+	57	8820	c.8324G>A	c.(8323-8325)AGT>AAT	p.S2775N	FRY_uc010tdw.1_RNA|FRY_uc001uty.2_Missense_Mutation_p.S330N|FRY_uc001utz.2_Missense_Mutation_p.S300N|FRY_uc010tdx.1_Missense_Mutation_p.S145N	NM_023037	NP_075463	Q5TBA9	FRY_HUMAN	furry homolog	2775					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				ovary(5)|large_intestine(1)|skin(1)	7		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		CTCAAGTTCAGTGTGTTAGAA	0.388												
BRCA2	675	broad.mit.edu	37	13	32929044	32929044	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr13:32929044C>T	uc001uub.1	+	14	7281	c.7054C>T	c.(7054-7056)CCT>TCT	p.P2352S		NM_000059	NP_000050	P51587	BRCA2_HUMAN	breast cancer 2, early onset	2352	Interaction with FANCD2.				cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding			ovary(20)|endometrium(8)|lung(7)|breast(7)|oesophagus(5)|large_intestine(4)|central_nervous_system(3)|pancreas(3)|skin(2)|upper_aerodigestive_tract(1)|cervix(1)|salivary_gland(1)|liver(1)|kidney(1)	64		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		TTTTACCGCACCTGGTCAAGA	0.328			D|Mis|N|F|S		breast|ovarian|pancreatic	breast|ovarian|pancreatic|leukemia  (FANCB|FANCD1)		Direct_reversal_of_damage|Homologous_recombination	Fanconi_Anemia_type_D1_bi-allelic_BRCA2_mutations|Fanconi_Anemia|Pancreatic_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_BRCA2_type|Hereditary_Prostate_Cancer|Li-Fraumeni_syndrome	TCGA Ovarian(8;0.087)		
NBEA	26960	broad.mit.edu	37	13	35517239	35517239	+	Silent	SNP	G	G	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr13:35517239G>A	uc001uvb.2	+	2	488	c.282G>A	c.(280-282)ACG>ACA	p.T94T		NM_015678	NP_056493	Q8NFP9	NBEA_HUMAN	neurobeachin	94						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			ovary(9)|large_intestine(2)	11		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		TCGTGGAGACGGTGCTCAACC	0.572												
FREM2	341640	broad.mit.edu	37	13	39424294	39424294	+	Missense_Mutation	SNP	C	C	T	rs114837786	by1000genomes	TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr13:39424294C>T	uc001uwv.2	+	9	6808	c.6499C>T	c.(6499-6501)CGG>TGG	p.R2167W	FREM2_uc001uww.2_Missense_Mutation_p.R253W	NM_207361	NP_997244	Q5SZK8	FREM2_HUMAN	FRAS1-related extracellular matrix protein 2	2167	Extracellular (Potential).|Calx-beta 4.				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(7)|pancreas(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1)	11		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		ATGCTACACCCGGCAGGGGTC	0.463												
MRPS31	10240	broad.mit.edu	37	13	41323298	41323298	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr13:41323298C>A	uc001uxm.3	-	6	1009	c.934G>T	c.(934-936)GAG>TAG	p.E312*		NM_005830	NP_005821	Q92665	RT31_HUMAN	mitochondrial ribosomal protein S31 precursor	312						mitochondrion|ribosome	protein domain specific binding				0		Lung NSC(96;3.55e-06)|Breast(139;0.00394)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(188;0.194)		all cancers(112;1.52e-08)|Epithelial(112;7.63e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000192)|GBM - Glioblastoma multiforme(144;0.00233)|BRCA - Breast invasive adenocarcinoma(63;0.0706)		ATTGGGAACTCCCATAGTTTC	0.373												
KIAA0564	23078	broad.mit.edu	37	13	42273343	42273343	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr13:42273343A>G	uc001uyj.2	-	29	3498	c.3428T>C	c.(3427-3429)ATG>ACG	p.M1143T		NM_015058	NP_055873	A3KMH1	K0564_HUMAN	hypothetical protein LOC23078 isoform a	1143						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)		TTTCCCAGTCATATTCATAAA	0.423												
EPSTI1	94240	broad.mit.edu	37	13	43543269	43543269	+	Missense_Mutation	SNP	T	T	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr13:43543269T>A	uc001uyw.1	-	3	368	c.292A>T	c.(292-294)AAC>TAC	p.N98Y	EPSTI1_uc001uyx.1_Missense_Mutation_p.N98Y	NM_001002264	NP_001002264	Q96J88	ESIP1_HUMAN	epithelial stromal interaction 1 isoform 1	98	Potential.									ovary(1)	1		Lung NSC(96;3.6e-06)|Breast(139;0.00869)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		GBM - Glioblastoma multiforme(144;0.000528)|BRCA - Breast invasive adenocarcinoma(63;0.0858)		TTAGCTCTGTTCTGCTCCTTC	0.532												
ENOX1	55068	broad.mit.edu	37	13	43900600	43900600	+	Silent	SNP	C	C	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr13:43900600C>T	uc001uza.3	-	10	1398	c.1098G>A	c.(1096-1098)TCG>TCA	p.S366S	ENOX1_uc001uzb.3_Silent_p.S366S|ENOX1_uc001uzc.3_Silent_p.S366S|ENOX1_uc001uyz.3_Intron|ENOX1_uc010tfm.1_Silent_p.S179S	NM_001127615	NP_001121087	Q8TC92	ENOX1_HUMAN	ecto-NOX disulfide-thiol exchanger 1	366					electron transport chain|rhythmic process|transport	extracellular space|plasma membrane	nucleic acid binding|nucleotide binding|oxidoreductase activity			pancreas(1)|skin(1)	2		Lung NSC(96;0.000518)|Prostate(109;0.0233)|Hepatocellular(98;0.0268)|Lung SC(185;0.0367)|Breast(139;0.0406)		GBM - Glioblastoma multiforme(144;0.00333)|BRCA - Breast invasive adenocarcinoma(63;0.172)		GCTGGGCTTTCGAGAAATGGT	0.418												
SIAH3	283514	broad.mit.edu	37	13	46425655	46425655	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr13:46425655A>G	uc001vap.2	-	1	192	c.110T>C	c.(109-111)GTC>GCC	p.V37A		NM_198849	NP_942146	Q8IW03	SIAH3_HUMAN	seven in absentia homolog 3	37					multicellular organismal development|ubiquitin-dependent protein catabolic process	nucleus	metal ion binding			ovary(1)|skin(1)	2						GGGGTTGACGACACAGACAAG	0.532												
C13orf18	80183	broad.mit.edu	37	13	46937325	46937325	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr13:46937325G>A	uc010acl.2	-	6	1455	c.850C>T	c.(850-852)CCA>TCA	p.P284S	C13orf18_uc001vbf.3_Missense_Mutation_p.P217S|C13orf18_uc001vbg.3_Missense_Mutation_p.P12S|C13orf18_uc010tfz.1_Missense_Mutation_p.P127S|C13orf18_uc010acm.2_Missense_Mutation_p.P149S|C13orf18_uc010acn.2_Missense_Mutation_p.P69S|C13orf18_uc001vbe.3_Missense_Mutation_p.P284S|C13orf18_uc001vbh.3_Missense_Mutation_p.P284S|C13orf18_uc001vbi.3_Missense_Mutation_p.P127S|C13orf18_uc010aco.1_Missense_Mutation_p.P284S	NM_025113	NP_079389	Q9H714	CM018_HUMAN	hypothetical protein LOC80183	284											0		Lung NSC(96;2.31e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;2.19e-05)		TCAGTCACTGGGCTGACCTGT	0.373												
ATP7B	540	broad.mit.edu	37	13	52532477	52532477	+	Silent	SNP	G	G	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr13:52532477G>A	uc001vfw.2	-	8	2482	c.2325C>T	c.(2323-2325)GCC>GCT	p.A775A	ATP7B_uc010adv.2_Intron|ATP7B_uc001vfx.2_Intron|ATP7B_uc001vfy.2_Silent_p.A664A|ATP7B_uc010tgt.1_Silent_p.A775A|ATP7B_uc010tgu.1_Silent_p.A727A|ATP7B_uc010tgv.1_Intron|ATP7B_uc001vfv.2_Silent_p.A47A|ATP7B_uc010tgs.1_Silent_p.A47A|ATP7B_uc010tgw.1_3'UTR	NM_000053	NP_000044	P35670	ATP7B_HUMAN	ATPase, Cu++ transporting, beta polypeptide	775	Helical; (Potential).				ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion	Golgi membrane|integral to plasma membrane|late endosome|mitochondrion	ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding			ovary(1)|central_nervous_system(1)|skin(1)	3		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;5.25e-08)		ACCGGCCCAGGGCAATGAACA	0.522									Wilson_disease			
THSD1	55901	broad.mit.edu	37	13	52971858	52971858	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr13:52971858T>C	uc001vgo.2	-	3	1075	c.530A>G	c.(529-531)GAG>GGG	p.E177G	THSD1_uc001vgp.2_Missense_Mutation_p.E177G|THSD1_uc010tgz.1_Intron|THSD1_uc010aea.2_Intron	NM_018676	NP_061146	Q9NS62	THSD1_HUMAN	thrombospondin type I domain-containing 1	177	Extracellular (Potential).					extracellular region|integral to membrane|intracellular membrane-bounded organelle				ovary(2)|upper_aerodigestive_tract(1)|skin(1)	4		Breast(56;0.000207)|Lung NSC(96;0.00145)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.8e-08)		TCTTCTTGCCTCAGGAAGACT	0.502												
PCDH8	5100	broad.mit.edu	37	13	53418924	53418924	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr13:53418924C>T	uc001vhi.2	-	3	3187	c.2984G>A	c.(2983-2985)CGG>CAG	p.R995Q	PCDH8_uc001vhj.2_Missense_Mutation_p.R898Q	NM_002590	NP_002581	O95206	PCDH8_HUMAN	protocadherin 8 isoform 1 precursor	995	Cytoplasmic (Potential).				cell-cell signaling|homophilic cell adhesion	cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane	calcium ion binding			breast(1)	1		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.19e-08)		CAGAGGATCCCGAGGCAGTGA	0.597												
PCDH17	27253	broad.mit.edu	37	13	58206890	58206890	+	Silent	SNP	C	C	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr13:58206890C>A	uc001vhq.1	+	1	1102	c.210C>A	c.(208-210)TCC>TCA	p.S70S	PCDH17_uc010aec.1_Silent_p.S70S	NM_001040429	NP_001035519	O14917	PCD17_HUMAN	protocadherin 17 precursor	70	Extracellular (Potential).|Cadherin 1.				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)		TGGAGAACTCCGCACCGCACC	0.682												
PCDH17	27253	broad.mit.edu	37	13	58208123	58208123	+	Silent	SNP	G	G	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr13:58208123G>A	uc001vhq.1	+	1	2335	c.1443G>A	c.(1441-1443)GTG>GTA	p.V481V	PCDH17_uc010aec.1_Silent_p.V481V	NM_001040429	NP_001035519	O14917	PCD17_HUMAN	protocadherin 17 precursor	481	Extracellular (Potential).|Cadherin 5.				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)		TGCTTCAGGTGCACGAGAACA	0.597												
DIAPH3	81624	broad.mit.edu	37	13	60565331	60565331	+	Missense_Mutation	SNP	A	A	C			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr13:60565331A>C	uc001vht.2	-	12	1541	c.1322T>G	c.(1321-1323)CTT>CGT	p.L441R	DIAPH3_uc001vhu.2_Missense_Mutation_p.L178R|DIAPH3_uc001vhv.2_Missense_Mutation_p.L19R	NM_001042517	NP_001035982	Q9NSV4	DIAP3_HUMAN	diaphanous homolog 3 isoform a	441	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)		AAGATGCTGAAGAATAGAAAT	0.294												
DACH1	1602	broad.mit.edu	37	13	72134083	72134083	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr13:72134083C>T	uc010thn.1	-	6	1727	c.1304G>A	c.(1303-1305)CGT>CAT	p.R435H	DACH1_uc010tho.1_Intron|DACH1_uc010thp.1_Intron	NM_080759	NP_542937	Q9UI36	DACH1_HUMAN	dachshund homolog 1 isoform a	487					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|nucleotide binding|protein binding			breast(1)	1		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)		GBM - Glioblastoma multiforme(99;0.00032)		ATCAGGAACACGCTCCTGCAC	0.498												
SLITRK1	114798	broad.mit.edu	37	13	84454827	84454827	+	Silent	SNP	C	C	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr13:84454827C>T	uc001vlk.2	-	1	1702	c.816G>A	c.(814-816)CCG>CCA	p.P272P		NM_052910	NP_443142	Q96PX8	SLIK1_HUMAN	slit and trk like 1 protein precursor	272	Extracellular (Potential).					integral to membrane				ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	5	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		CAGGGGGCGCCGGGAGACTAG	0.552												
SLITRK5	26050	broad.mit.edu	37	13	88327712	88327712	+	Silent	SNP	G	G	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr13:88327712G>A	uc001vln.2	+	2	288	c.69G>A	c.(67-69)CTG>CTA	p.L23L	SLITRK5_uc010tic.1_Intron	NM_015567	NP_056382	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5 precursor	23						integral to membrane				ovary(2)|pancreas(2)|central_nervous_system(1)	5	all_neural(89;0.101)|Medulloblastoma(90;0.163)					GCTGGATGCTGCAGACTCTAG	0.458												
TGDS	23483	broad.mit.edu	37	13	95244550	95244550	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr13:95244550G>A	uc001vlw.2	-	3	288	c.167C>T	c.(166-168)GCA>GTA	p.A56V	TGDS_uc001vlx.2_RNA	NM_014305	NP_055120	O95455	TGDS_HUMAN	TDP-glucose 4,6-dehydratase	56					cellular metabolic process		coenzyme binding|dTDP-glucose 4,6-dehydratase activity|protein binding				0	all_neural(89;0.0684)|Medulloblastoma(90;0.163)					CTTCAAGCTTGCACAGTAATC	0.353												
CLDN10	9071	broad.mit.edu	37	13	96086251	96086251	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr13:96086251C>T	uc001vmg.2	+	1	399	c.164C>T	c.(163-165)GCG>GTG	p.A55V	CLDN10_uc010tii.1_Intron	NM_182848	NP_878268	P78369	CLD10_HUMAN	claudin 10 isoform a	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					calcium-independent cell-cell adhesion	integral to membrane|tight junction	identical protein binding|structural molecule activity			ovary(1)	1	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.18)			GCAGGTAACGCGTTGGGTTCT	0.493												
CLDN10	9071	broad.mit.edu	37	13	96205116	96205116	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr13:96205116G>A	uc001vmh.2	+	1	170	c.109G>A	c.(109-111)GGC>AGC	p.G37S	CLDN10_uc001vmg.2_Intron|CLDN10_uc010tii.1_Intron	NM_006984	NP_008915	P78369	CLD10_HUMAN	claudin 10 isoform b	37	Extracellular (Potential).				calcium-independent cell-cell adhesion	integral to membrane|tight junction	identical protein binding|structural molecule activity			ovary(1)	1	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.18)			TACCATCGACGGCACGGTCAT	0.602												
RNF113B	140432	broad.mit.edu	37	13	98829457	98829457	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr13:98829457C>T	uc001vnk.2	-	1	65	c.34G>A	c.(34-36)GAC>AAC	p.D12N	FARP1_uc001vnh.2_Intron|FARP1_uc001vni.2_Intron|FARP1_uc001vnj.2_Intron	NM_178861	NP_849192	Q8IZP6	R113B_HUMAN	ring finger protein 113B	12							nucleic acid binding|zinc ion binding			ovary(1)|central_nervous_system(1)|skin(1)	3	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.13)			TCTGCTTGGTCGGCCGTCCTT	0.542												
STK24	8428	broad.mit.edu	37	13	99109475	99109475	+	Silent	SNP	C	C	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr13:99109475C>T	uc001vnm.1	-	10	1477	c.1242G>A	c.(1240-1242)GCG>GCA	p.A414A	STK24_uc001vnn.1_Silent_p.A402A|STK24_uc010tim.1_Silent_p.A383A	NM_003576	NP_003567	Q9Y6E0	STK24_HUMAN	serine/threonine kinase 24 isoform a	414					cellular component disassembly involved in apoptosis|signal transduction	cytosol|nucleoplasm	ATP binding|protein binding|protein serine/threonine kinase activity	p.A414V(1)		ovary(1)|lung(1)	2	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			TGCCAGGGCACGCCTCCTCCG	0.622												
SLC15A1	6564	broad.mit.edu	37	13	99354751	99354751	+	Silent	SNP	T	T	C			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr13:99354751T>C	uc001vno.2	-	18	1526	c.1449A>G	c.(1447-1449)AAA>AAG	p.K483K		NM_005073	NP_005064	P46059	S15A1_HUMAN	solute carrier family 15 (oligopeptide	483	Extracellular (Potential).				digestion|protein transport	integral to plasma membrane|membrane fraction	peptide:hydrogen symporter activity			ovary(1)	1	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Cefadroxil(DB01140)|Ceftibuten(DB01415)|Cyclacillin(DB01000)	CATTTTCCCCTTTTTCTGGCT	0.254												
NALCN	259232	broad.mit.edu	37	13	101759837	101759837	+	Splice_Site	SNP	C	C	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr13:101759837C>T	uc001vox.1	-	22	2768	c.2579_splice	c.e22+1	p.A860_splice		NM_052867	NP_443099	Q8IZF0	NALCN_HUMAN	voltage gated channel like 1							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)					AGTGTACTTACGCGTTGAAGC	0.502												
KDELC1	79070	broad.mit.edu	37	13	103449310	103449310	+	Missense_Mutation	SNP	G	G	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr13:103449310G>T	uc001vpq.3	-	2	616	c.232C>A	c.(232-234)CCA>ACA	p.P78T	KDELC1_uc001vpr.3_5'UTR|BIVM_uc001vps.2_5'Flank|BIVM_uc010agc.2_5'Flank	NM_024089	NP_076994	Q6UW63	KDEL1_HUMAN	KDEL (Lys-Asp-Glu-Leu) containing 1 precursor	78	Filamin.					endoplasmic reticulum lumen				ovary(1)	1	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					TGCTCCTCTGGTGCTGAGACT	0.418												
MYO16	23026	broad.mit.edu	37	13	109779715	109779715	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr13:109779715G>A	uc001vqt.1	+	31	3928	c.3802G>A	c.(3802-3804)GTT>ATT	p.V1268I	MYO16_uc010agk.1_Missense_Mutation_p.V1290I|MYO16_uc010tjh.1_Missense_Mutation_p.V780I	NM_015011	NP_055826	Q9Y6X6	MYO16_HUMAN	myosin heavy chain Myr 8	1268					cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity			ovary(6)|large_intestine(1)|kidney(1)|breast(1)|central_nervous_system(1)	10	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			CCAGTGCCTCGTTGGCCCGTC	0.617												
MYO16	23026	broad.mit.edu	37	13	109792726	109792726	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr13:109792726C>T	uc001vqt.1	+	32	4226	c.4100C>T	c.(4099-4101)TCG>TTG	p.S1367L	MYO16_uc010agk.1_Missense_Mutation_p.S1389L	NM_015011	NP_055826	Q9Y6X6	MYO16_HUMAN	myosin heavy chain Myr 8	1367					cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity			ovary(6)|large_intestine(1)|kidney(1)|breast(1)|central_nervous_system(1)	10	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			GAGGAGATATCGGGGTcccgg	0.527												
OR4Q3	441669	broad.mit.edu	37	14	20216007	20216007	+	Silent	SNP	C	C	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr14:20216007C>T	uc010tkt.1	+	1	421	c.421C>T	c.(421-423)CTA>TTA	p.L141L		NM_172194	NP_751944	Q8NH05	OR4Q3_HUMAN	olfactory receptor, family 4, subfamily Q,	141	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(3)	3	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		GAACCCCCAGCTATGCCTTTG	0.498												
RNASE6	6039	broad.mit.edu	37	14	21250106	21250106	+	Missense_Mutation	SNP	T	T	G	rs139946247		TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr14:21250106T>G	uc001vye.3	+	2	541	c.248T>G	c.(247-249)ATT>AGT	p.I83S		NM_005615	NP_005606	Q93091	RNAS6_HUMAN	ribonuclease, RNase A family, k6 precursor	83					defense response|RNA catabolic process	extracellular region	nucleic acid binding|pancreatic ribonuclease activity				0	all_cancers(95;0.00406)		Epithelial(56;9.21e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0126)		TTGCTCAGCATTGTCTGCAAA	0.468												
ZNF219	51222	broad.mit.edu	37	14	21559656	21559656	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr14:21559656C>T	uc001vzr.2	-	4	1899	c.1478G>A	c.(1477-1479)CGG>CAG	p.R493Q	ZNF219_uc001vzs.2_Missense_Mutation_p.R493Q|ZNF219_uc010aik.1_Missense_Mutation_p.R493Q	NM_016423	NP_057507	Q9P2Y4	ZN219_HUMAN	zinc finger protein 219	493					negative regulation of transcription, DNA-dependent	integral to membrane|nucleus	DNA binding|histamine receptor activity|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)	1	all_cancers(95;0.00185)		OV - Ovarian serous cystadenocarcinoma(11;9.86e-11)|Epithelial(56;1.27e-08)|all cancers(55;6.06e-08)	GBM - Glioblastoma multiforme(265;0.0191)		GGTGGCGCCCCGGCCCCCTTC	0.602												
CHD8	57680	broad.mit.edu	37	14	21860061	21860061	+	Silent	SNP	C	C	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr14:21860061C>T	uc001was.1	-	35	6073	c.5979G>A	c.(5977-5979)GCG>GCA	p.A1993A	CHD8_uc001war.1_Silent_p.A1889A	NM_020920	NP_065971	Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	2272					ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding			ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|breast(1)|skin(1)	10	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		TTACTCCATTCGCCATCAACT	0.428												
RABGGTA	5875	broad.mit.edu	37	14	24737768	24737768	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr14:24737768C>T	uc001wof.2	-	9	1380	c.958G>A	c.(958-960)GTC>ATC	p.V320I	RABGGTA_uc001woe.2_RNA|RABGGTA_uc001wog.2_Missense_Mutation_p.V320I|RABGGTA_uc001woh.2_RNA|RABGGTA_uc001woi.2_RNA	NM_004581	NP_004572	Q92696	PGTA_HUMAN	Rab geranylgeranyltransferase alpha	320					visual perception		Rab geranylgeranyltransferase activity|zinc ion binding				0				GBM - Glioblastoma multiforme(265;0.0184)		GTCCAAATGACGCGAAATGTA	0.542												
ARHGAP5	394	broad.mit.edu	37	14	32562687	32562687	+	Missense_Mutation	SNP	G	G	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr14:32562687G>T	uc001wrl.2	+	2	3051	c.2812G>T	c.(2812-2814)GTT>TTT	p.V938F	ARHGAP5_uc001wrm.2_Missense_Mutation_p.V938F|ARHGAP5_uc001wrn.2_Missense_Mutation_p.V938F|ARHGAP5_uc001wro.2_Intron|ARHGAP5_uc001wrp.2_Intron	NM_001173	NP_001025226	Q13017	RHG05_HUMAN	Rho GTPase activating protein 5 isoform b	938					cell adhesion|Rho protein signal transduction	cytosol|membrane	GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding			ovary(4)|central_nervous_system(1)	5	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)		TTTTAGTGATGTTCTAGAGAA	0.338												
BAZ1A	11177	broad.mit.edu	37	14	35222777	35222777	+	Silent	SNP	G	G	A	rs114946696	by1000genomes	TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr14:35222777G>A	uc001wsk.2	-	27	5176	c.4608C>T	c.(4606-4608)CAC>CAT	p.H1536H	BAZ1A_uc001wsl.2_Silent_p.H1504H	NM_013448	NP_038476	Q9NRL2	BAZ1A_HUMAN	bromodomain adjacent to zinc finger domain, 1A	1536					chromatin remodeling|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ACF complex	zinc ion binding			lung(2)|central_nervous_system(2)|ovary(1)|breast(1)|skin(1)	7	Breast(36;0.0388)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;7.23e-05)|Lung(238;0.00019)|Epithelial(34;0.0793)|all cancers(34;0.175)	GBM - Glioblastoma multiforme(112;0.0659)		TGGGTGTGACGTGGAGTCCAA	0.423												
MIA2	117153	broad.mit.edu	37	14	39716693	39716693	+	Silent	SNP	A	A	G			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr14:39716693A>G	uc001wux.2	+	4	1109	c.915A>G	c.(913-915)CAA>CAG	p.Q305Q	MIA2_uc010amy.1_Silent_p.Q236Q	NM_054024	NP_473365	Q96PC5	MIA2_HUMAN	melanoma inhibitory activity 2	305						extracellular region				ovary(1)|breast(1)	2	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0216)		CCAAACCTCAATCCACTGGTT	0.413												
CDKL1	8814	broad.mit.edu	37	14	50824783	50824783	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr14:50824783C>A	uc010anu.1	-	15	2185	c.2185G>T	c.(2185-2187)GGA>TGA	p.G729*	CDKL1_uc001wxz.2_Intron	NM_004196	NP_004187	Q00532	CDKL1_HUMAN	cyclin-dependent kinase-like 1	Error:Variant_position_missing_in_Q00532_after_alignment						cytoplasm|nucleus	ATP binding|cyclin-dependent protein kinase activity			ovary(1)|stomach(1)	2	all_epithelial(31;0.000746)|Breast(41;0.0102)					GGACCCCCTCCTCCTTTTTTC	0.532												
PTGDR	5729	broad.mit.edu	37	14	52734770	52734770	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr14:52734770A>G	uc001wzq.2	+	1	340	c.238A>G	c.(238-240)AGC>GGC	p.S80G		NM_000953	NP_000944	Q13258	PD2R_HUMAN	prostaglandin D2 receptor	80	Helical; Name=2; (Potential).					integral to membrane|plasma membrane	prostaglandin D receptor activity|protein binding			ovary(1)|lung(1)|central_nervous_system(1)|skin(1)	4	Breast(41;0.0639)|all_epithelial(31;0.0887)				Nedocromil(DB00716)	GTGCCTCCTAAGCCCGGTGGT	0.647												
FERMT2	10979	broad.mit.edu	37	14	53386022	53386022	+	Silent	SNP	A	A	G			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr14:53386022A>G	uc001xad.2	-	3	265	c.210T>C	c.(208-210)ACT>ACC	p.T70T	FERMT2_uc001xac.2_Silent_p.T70T|FERMT2_uc001xae.2_Silent_p.T70T|FERMT2_uc001xaf.2_Silent_p.T70T	NM_006832	NP_006823	Q96AC1	FERM2_HUMAN	fermitin family homolog 2 isoform 1	70					actin cytoskeleton organization|cell adhesion|cell junction assembly|regulation of cell shape	cell cortex|cytosol|focal adhesion|stress fiber	binding				0	Breast(41;0.0342)					TCAGAAGCCAAGTTCTCTTCT	0.408												
CGRRF1	10668	broad.mit.edu	37	14	54996827	54996827	+	Missense_Mutation	SNP	G	G	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr14:54996827G>T	uc001xay.2	+	3	396	c.305G>T	c.(304-306)TGC>TTC	p.C102F	CGRRF1_uc010tra.1_Missense_Mutation_p.C102F|CGRRF1_uc001xaz.2_RNA	NM_006568	NP_006559	Q99675	CGRF1_HUMAN	cell growth regulator with ring finger domain 1	102					cell cycle arrest|negative regulation of cell proliferation|response to stress		zinc ion binding			ovary(1)	1						TACTGGGGGTGCAGTGTTCAA	0.388												
SOCS4	122809	broad.mit.edu	37	14	55510009	55510009	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr14:55510009C>T	uc001xbo.2	+	3	815	c.250C>T	c.(250-252)CAT>TAT	p.H84Y	SOCS4_uc001xbp.2_Missense_Mutation_p.H84Y	NM_199421	NP_955453	Q8WXH5	SOCS4_HUMAN	suppressor of cytokine signaling 4	84					intracellular signal transduction|negative regulation of signal transduction|regulation of growth					ovary(1)|kidney(1)	2						TTCCTGTGGGCATCGATTTTT	0.443												
GPR135	64582	broad.mit.edu	37	14	59930738	59930738	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr14:59930738C>T	uc010apj.2	-	1	1322	c.1207G>A	c.(1207-1209)GAG>AAG	p.E403K	GPR135_uc001xed.2_RNA	NM_022571	NP_072093	Q8IZ08	GP135_HUMAN	G protein-coupled receptor 135	403	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity				0				OV - Ovarian serous cystadenocarcinoma(108;0.134)		TAGCCCTCCTCGCGGTTGCGC	0.627												
C14orf135	64430	broad.mit.edu	37	14	60582161	60582161	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr14:60582161C>T	uc001xer.3	+	3	1159	c.637C>T	c.(637-639)CGG>TGG	p.R213W	C14orf135_uc001xeq.2_Missense_Mutation_p.R213W|C14orf135_uc010apm.2_5'Flank	NM_022495	NP_071940	Q63HM2	CN135_HUMAN	hepatitis C virus F protein-binding protein 2	447						integral to membrane				ovary(2)	2		Myeloproliferative disorder(585;0.163)		OV - Ovarian serous cystadenocarcinoma(108;0.127)		TATTGTCAGACGGATTTTGCT	0.348												
KCNH5	27133	broad.mit.edu	37	14	63269270	63269270	+	Silent	SNP	T	T	C			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr14:63269270T>C	uc001xfx.2	-	9	1650	c.1599A>G	c.(1597-1599)AGA>AGG	p.R533R	KCNH5_uc001xfy.2_Silent_p.R533R|KCNH5_uc001xfz.1_Silent_p.R475R	NM_139318	NP_647479	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H,	533	Cytoplasmic (Potential).				regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity			ovary(4)|skin(4)|central_nervous_system(1)	9				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		AGATATCAGCTCTCATGTCCT	0.448												
SYNE2	23224	broad.mit.edu	37	14	64681174	64681174	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr14:64681174A>G	uc001xgm.2	+	106	19549	c.19319A>G	c.(19318-19320)TAC>TGC	p.Y6440C	SYNE2_uc001xgl.2_Missense_Mutation_p.Y6440C|SYNE2_uc010apy.2_Missense_Mutation_p.Y2825C|SYNE2_uc001xgn.2_Missense_Mutation_p.Y1402C|SYNE2_uc001xgo.2_RNA|SYNE2_uc010aqa.2_Missense_Mutation_p.Y410C|SYNE2_uc001xgq.2_Missense_Mutation_p.Y805C|SYNE2_uc001xgr.2_Missense_Mutation_p.Y223C|SYNE2_uc010tsi.1_Missense_Mutation_p.Y74C|SYNE2_uc001xgs.2_Missense_Mutation_p.Y74C|SYNE2_uc001xgt.2_5'Flank	NM_015180	NP_055995	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	6440	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)		GGCCCATACTACAGCGCACTG	0.602												
ESR2	2100	broad.mit.edu	37	14	64724058	64724058	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr14:64724058T>C	uc001xha.1	-	6	1445	c.977A>G	c.(976-978)GAC>GGC	p.D326G	ESR2_uc001xgu.2_Missense_Mutation_p.D326G|ESR2_uc001xgv.2_Missense_Mutation_p.D326G|ESR2_uc001xgw.2_Intron|ESR2_uc001xgx.2_Missense_Mutation_p.D326G|ESR2_uc001xgy.1_Missense_Mutation_p.D326G|ESR2_uc001xgz.1_Missense_Mutation_p.D326G|ESR2_uc010aqb.1_RNA|ESR2_uc010aqc.1_Intron|ESR2_uc010aqd.1_RNA	NM_001437	NP_001428	Q92731	ESR2_HUMAN	estrogen receptor beta isoform 1	326	Steroid-binding.				cell-cell signaling|negative regulation of cell growth|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	mitochondrion|nucleoplasm	enzyme binding|estrogen receptor activity|receptor antagonist activity|sequence-specific DNA binding transcription factor activity|steroid binding|transcription coactivator activity|zinc ion binding			central_nervous_system(2)|ovary(1)	3				all cancers(60;0.00916)|OV - Ovarian serous cystadenocarcinoma(108;0.0111)|BRCA - Breast invasive adenocarcinoma(234;0.0437)	Bicalutamide(DB01128)|Estradiol(DB00783)|Estramustine(DB01196)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Trilostane(DB01108)	CCGCACTTGGTCGAACAGGCT	0.572												
SPTB	6710	broad.mit.edu	37	14	65234410	65234410	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr14:65234410G>A	uc001xht.2	-	29	6244	c.6190C>T	c.(6190-6192)CGC>TGC	p.R2064C	SPTB_uc001xhr.2_Missense_Mutation_p.R2064C|SPTB_uc001xhs.2_Missense_Mutation_p.R2064C|SPTB_uc001xhu.2_Missense_Mutation_p.R2064C|SPTB_uc010aqi.2_Missense_Mutation_p.R725C	NM_000347	NP_000338	P11277	SPTB1_HUMAN	spectrin beta isoform b	2064	Spectrin 17.				actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton			ovary(7)|skin(2)|lung(1)|central_nervous_system(1)	11		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		GCAGCAAAGCGCTCTGCCCAG	0.607												
SLC8A3	6547	broad.mit.edu	37	14	70634344	70634344	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr14:70634344G>A	uc001xly.2	-	2	1550	c.796C>T	c.(796-798)CGC>TGC	p.R266C	SLC8A3_uc001xlw.2_Missense_Mutation_p.R266C|SLC8A3_uc001xlx.2_Missense_Mutation_p.R266C|SLC8A3_uc001xlz.2_Missense_Mutation_p.R266C|SLC8A3_uc010ara.2_RNA	NM_183002	NP_892114	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium	266	Calmodulin-binding (By similarity).|Cytoplasmic (Potential).				cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			skin(3)|ovary(2)|breast(2)	7				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		TTGTCTGTGCGGTACTTTTTG	0.468												
PSEN1	5663	broad.mit.edu	37	14	73637541	73637541	+	Missense_Mutation	SNP	C	C	T	rs140189461		TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr14:73637541C>T	uc001xnr.2	+	4	408	c.124C>T	c.(124-126)CGG>TGG	p.R42W	PSEN1_uc001xnv.2_Missense_Mutation_p.R38W|PSEN1_uc010ark.2_Missense_Mutation_p.R38W|PSEN1_uc001xnt.1_RNA|PSEN1_uc001xnu.2_RNA|PSEN1_uc001xnq.3_Missense_Mutation_p.R42W	NM_000021	NP_000012	P49768	PSN1_HUMAN	presenilin 1 isoform I-467	42	Cytoplasmic (Potential).				amyloid precursor protein catabolic process|anti-apoptosis|beta-amyloid metabolic process|cell-cell adhesion|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|smooth endoplasmic reticulum calcium ion homeostasis	apical plasma membrane|axon|cell cortex|cell surface|centrosome|ciliary rootlet|dendritic shaft|endoplasmic reticulum membrane|gamma-secretase complex|Golgi membrane|growth cone|integral to plasma membrane|kinetochore|lysosomal membrane|membrane raft|mitochondrial inner membrane|neuromuscular junction|neuronal cell body|nuclear outer membrane|perinuclear region of cytoplasm|rough endoplasmic reticulum|smooth endoplasmic reticulum|Z disc	aspartic-type endopeptidase activity|beta-catenin binding|cadherin binding|calcium channel activity|PDZ domain binding			breast(1)|kidney(1)	2				BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.075)		CAACGACAGACGGAGCCTTGG	0.478												
HEATR4	399671	broad.mit.edu	37	14	73964917	73964917	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr14:73964917G>A	uc010tub.1	-	14	2810	c.2488C>T	c.(2488-2490)CGG>TGG	p.R830W	HEATR4_uc010tua.1_Missense_Mutation_p.R783W	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)		TCCCTGACCCGGTCCCCTTGA	0.542												
BATF	10538	broad.mit.edu	37	14	76012887	76012887	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr14:76012887C>T	uc001xrr.2	+	3	493	c.251C>T	c.(250-252)TCG>TTG	p.S84L		NM_006399	NP_006390	Q16520	BATF_HUMAN	basic leucine zipper transcription factor,	84						nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(234;0.028)		TACTTCACGTCGGTGCTGAAC	0.617												
STON2	85439	broad.mit.edu	37	14	81744923	81744923	+	Silent	SNP	T	T	C			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr14:81744923T>C	uc010tvu.1	-	4	933	c.732A>G	c.(730-732)TTA>TTG	p.L244L	STON2_uc001xvk.1_Silent_p.L244L|STON2_uc010tvt.1_Silent_p.L41L	NM_033104	NP_149095	Q8WXE9	STON2_HUMAN	stonin 2	244					endocytosis|intracellular protein transport|regulation of endocytosis	clathrin adaptor complex|nucleolus	protein binding			skin(3)|pancreas(2)	5				BRCA - Breast invasive adenocarcinoma(234;0.0348)		TGACTGGTGGTAAAGGGCAGC	0.512												
ATXN3	4287	broad.mit.edu	37	14	92548751	92548751	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr14:92548751T>C	uc001yac.3	-	8	737	c.668A>G	c.(667-669)GAC>GGC	p.D223G	ATXN3_uc010aug.2_Missense_Mutation_p.D208G|ATXN3_uc001yad.3_Missense_Mutation_p.D168G|ATXN3_uc010auh.2_Missense_Mutation_p.D157G|ATXN3_uc001yae.3_Missense_Mutation_p.D125G|ATXN3_uc010twl.1_RNA	NM_004993	NP_004984	P54252	ATX3_HUMAN	ataxin 3 reference isoform	223					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)		CTCATCTTCGTCTAACATTCC	0.448												
DDX24	57062	broad.mit.edu	37	14	94528520	94528520	+	Missense_Mutation	SNP	A	A	C			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr14:94528520A>C	uc001ycj.2	-	3	1265	c.1166T>G	c.(1165-1167)CTT>CGT	p.L389R	DDX24_uc010twq.1_Missense_Mutation_p.L346R|DDX24_uc010twr.1_Missense_Mutation_p.L139R	NM_020414	NP_065147	Q9GZR7	DDX24_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 24	389	Helicase ATP-binding.				RNA metabolic process	cytoplasm|nucleolus|nucleolus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			ovary(2)|kidney(1)|skin(1)	4		all_cancers(154;0.12)		Epithelial(152;0.114)|all cancers(159;0.19)|COAD - Colon adenocarcinoma(157;0.207)		AACCAGTCCAAGCAGAGGACG	0.458												
SERPINA11	256394	broad.mit.edu	37	14	94912669	94912669	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr14:94912669T>C	uc001ydd.1	-	3	976	c.916A>G	c.(916-918)AGT>GGT	p.S306G		NM_001080451	NP_001073920	Q86U17	SPA11_HUMAN	serpin peptidase inhibitor, clade A (alpha-1	306					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			kidney(1)	1				COAD - Colon adenocarcinoma(157;0.211)		GACACTTACCTGGGCAGGAGC	0.562												
HSP90AA1	3320	broad.mit.edu	37	14	102568317	102568317	+	Silent	SNP	G	G	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr14:102568317G>A	uc001ykv.3	-	2	606	c.261C>T	c.(259-261)CAC>CAT	p.H87H		NM_001017963	NP_001017963	P07900	HS90A_HUMAN	heat shock 90kDa protein 1, alpha isoform 1	Error:Variant_position_missing_in_P07900_after_alignment					axon guidance|cellular chaperone-mediated protein complex assembly|G2/M transition of mitotic cell cycle|nitric oxide metabolic process|positive regulation of nitric oxide biosynthetic process|protein import into mitochondrial outer membrane|protein refolding|regulation of nitric-oxide synthase activity|response to unfolded protein|signal transduction	cytosol|melanosome|plasma membrane	ATP binding|ATPase activity|nitric-oxide synthase regulator activity|protein homodimerization activity|TPR domain binding|unfolded protein binding			ovary(2)|central_nervous_system(2)|prostate(1)|lung(1)|breast(1)	7					Rifabutin(DB00615)	ATGCAGAGACGTGGAAGGGCT	0.522												
AMN	81693	broad.mit.edu	37	14	103390157	103390157	+	Silent	SNP	G	G	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr14:103390157G>A	uc001ymg.3	+	2	186	c.153G>A	c.(151-153)CCG>CCA	p.P51P	AMN_uc001ymh.3_5'UTR	NM_030943	NP_112205	Q9BXJ7	AMNLS_HUMAN	amnionless protein precursor	51	Extracellular (Potential).				lipid metabolic process|lipoprotein metabolic process|multicellular organismal development	integral to membrane|plasma membrane					0				Colorectal(3;0.00739)|READ - Rectum adenocarcinoma(2;0.0336)|Epithelial(152;0.0363)|all cancers(159;0.147)	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TTGAGTTCCCGGCGGACAAGG	0.716												
MARK3	4140	broad.mit.edu	37	14	103958244	103958244	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr14:103958244C>T	uc001ymz.3	+	15	2383	c.1717C>T	c.(1717-1719)CGA>TGA	p.R573*	MARK3_uc001ymx.3_Nonsense_Mutation_p.R573*|MARK3_uc001ymw.3_Nonsense_Mutation_p.R573*|MARK3_uc001yna.3_Nonsense_Mutation_p.R557*|MARK3_uc001ymy.3_Nonsense_Mutation_p.R494*|MARK3_uc010awp.2_Nonsense_Mutation_p.R596*|MARK3_uc010tyb.1_Nonsense_Mutation_p.R368*|MARK3_uc010awq.2_Nonsense_Mutation_p.R155*	NM_001128918	NP_001122390	P27448	MARK3_HUMAN	MAP/microtubule affinity-regulating kinase 3	573							ATP binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(2)|ovary(1)|stomach(1)	4		Melanoma(154;0.155)	Epithelial(46;0.241)			CCGGGAACGGCGAACCGCAAC	0.572												
TMEM121	80757	broad.mit.edu	37	14	105995256	105995256	+	Missense_Mutation	SNP	C	C	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr14:105995256C>A	uc001yrp.1	+	2	236	c.85C>A	c.(85-87)CTG>ATG	p.L29M	ADAM6_uc010tyt.1_Intron|uc001yrr.2_5'Flank	NM_025268	NP_079544	Q9BTD3	TM121_HUMAN	hole protein	29	Helical; (Potential).					integral to membrane					0		Melanoma(154;0.226)	OV - Ovarian serous cystadenocarcinoma(23;0.00596)|Epithelial(46;0.0188)	Epithelial(152;0.0959)|all cancers(159;0.235)		GGACGCGTACCTGGTGGAGCA	0.632												
NDN	4692	broad.mit.edu	37	15	23931631	23931631	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr15:23931631A>G	uc001ywk.2	-	1	820	c.734T>C	c.(733-735)CTG>CCG	p.L245P		NM_002487	NP_002478	Q99608	NECD_HUMAN	necdin	245	MAGE.				negative regulation of cell proliferation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perikaryon	DNA binding				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;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00179)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153)		CTGGTACTTCAGGTAATTCAT	0.582									Prader-Willi_syndrome			
HERC2	8924	broad.mit.edu	37	15	28443796	28443796	+	Silent	SNP	C	C	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr15:28443796C>T	uc001zbj.2	-	49	7942	c.7836G>A	c.(7834-7836)CAG>CAA	p.Q2612Q	HERC2_uc001zbk.1_Silent_p.Q147Q	NM_004667	NP_004658	O95714	HERC2_HUMAN	hect domain and RLD 2	2612					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(4)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	13		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		CCCCTTTCTGCTGCCAGTCAC	0.453												
MTMR15	22909	broad.mit.edu	37	15	31197145	31197145	+	Silent	SNP	C	C	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr15:31197145C>A	uc001zff.2	+	2	570	c.279C>A	c.(277-279)ACC>ACA	p.T93T	MTMR15_uc001zfc.3_Silent_p.T93T|MTMR15_uc010azw.2_Silent_p.T93T|MTMR15_uc001zfd.3_Silent_p.T93T|MTMR15_uc001zfe.2_5'UTR	NM_014967	NP_055782	Q9Y2M0	FAN1_HUMAN	myotubularin related protein 15 isoform a	93					double-strand break repair via homologous recombination|nucleotide-excision repair, DNA incision	nucleus	5'-3' exonuclease activity|5'-flap endonuclease activity|DNA binding|magnesium ion binding|phosphodiesterase I activity|ubiquitin binding				0		all_lung(180;2.23e-09)		all cancers(64;4.72e-15)|Epithelial(43;5.4e-11)|GBM - Glioblastoma multiforme(186;0.000136)|BRCA - Breast invasive adenocarcinoma(123;0.00402)|Lung(196;0.168)		CCAGTGTTACCTTAGAAGATG	0.398								Direct_reversal_of_damage|Editing_and_processing_nucleases				
RYR3	6263	broad.mit.edu	37	15	34130387	34130387	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr15:34130387T>C	uc001zhi.2	+	89	12276	c.12206T>C	c.(12205-12207)ATT>ACT	p.I4069T	RYR3_uc010bar.2_Missense_Mutation_p.I4064T	NM_001036	NP_001027	Q15413	RYR3_HUMAN	ryanodine receptor 3	4069					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)		CGACAGTTCATTTTTGATGTT	0.463												
AQR	9716	broad.mit.edu	37	15	35167043	35167043	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr15:35167043C>T	uc001ziv.2	-	29	3441	c.3260G>A	c.(3259-3261)CGA>CAA	p.R1087Q		NM_014691	NP_055506	O60306	AQR_HUMAN	aquarius	1087						catalytic step 2 spliceosome	RNA binding			large_intestine(1)	1		Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08)		all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283)		TCGTTTTAGTCGGCTAAATCC	0.393												
BUB1B	701	broad.mit.edu	37	15	40488752	40488752	+	Silent	SNP	A	A	G			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr15:40488752A>G	uc001zkx.3	+	9	1277	c.1065A>G	c.(1063-1065)CCA>CCG	p.P355P	BUB1B_uc010ucl.1_Silent_p.P218P	NM_001211	NP_001202	O60566	BUB1B_HUMAN	budding uninhibited by benzimidazoles 1 beta	355					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell division|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|phosphatidylinositol-mediated signaling|protein localization to kinetochore|spindle organization	anaphase-promoting complex|condensed chromosome outer kinetochore|cytosol|microtubule organizing center|perinuclear region of cytoplasm|spindle midzone	ATP binding|protein binding|protein serine/threonine kinase activity			stomach(2)|ovary(1)|kidney(1)	4		all_cancers(109;1.12e-18)|all_epithelial(112;1.61e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0556)		TTAGGACACCATGTAAAATTG	0.348			Mis|N|F|S			rhabdomyosarcoma			Mosaic_Variegated_Aneuploidy_Syndrome			
TYRO3	7301	broad.mit.edu	37	15	41865886	41865886	+	Missense_Mutation	SNP	G	G	A	rs67202013		TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr15:41865886G>A	uc001zof.1	+	18	2379	c.2155G>A	c.(2155-2157)GGG>AGG	p.G719R		NM_006293	NP_006284	Q06418	TYRO3_HUMAN	TYRO3 protein tyrosine kinase precursor	719	Protein kinase.|Cytoplasmic (Potential).					integral to plasma membrane	ATP binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			ovary(3)|lung(2)|central_nervous_system(1)	6		all_cancers(109;7.33e-15)|all_epithelial(112;2.8e-12)|Lung NSC(122;3.48e-08)|all_lung(180;1.71e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.31e-18)|GBM - Glioblastoma multiforme(113;9.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.117)		GTGGGCGTTCGGGGTGACCAT	0.572												
TYRO3	7301	broad.mit.edu	37	15	41870287	41870287	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr15:41870287G>A	uc001zof.1	+	19	2710	c.2486G>A	c.(2485-2487)AGT>AAT	p.S829N		NM_006293	NP_006284	Q06418	TYRO3_HUMAN	TYRO3 protein tyrosine kinase precursor	829	Cytoplasmic (Potential).					integral to plasma membrane	ATP binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			ovary(3)|lung(2)|central_nervous_system(1)	6		all_cancers(109;7.33e-15)|all_epithelial(112;2.8e-12)|Lung NSC(122;3.48e-08)|all_lung(180;1.71e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.31e-18)|GBM - Glioblastoma multiforme(113;9.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.117)		CAGCCCTACAGTGGGGCTGGG	0.642												
JMJD7-PLA2G4B	8681	broad.mit.edu	37	15	42133713	42133713	+	Splice_Site	SNP	A	A	C			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr15:42133713A>C	uc010bco.2	+	7	537	c.436_splice	c.e7-2	p.A146_splice	JMJD7-PLA2G4B_uc001zoo.3_Splice_Site_p.A377_splice|JMJD7-PLA2G4B_uc010bcn.2_Splice_Site_p.A377_splice|JMJD7-PLA2G4B_uc001zoq.3_Splice_Site|JMJD7-PLA2G4B_uc001zor.1_5'Flank	NM_001114633	NP_001108105	P0C869	PA24B_HUMAN	phospholipase A2, group IVB						arachidonic acid metabolic process|calcium-mediated signaling|glycerophospholipid catabolic process|inflammatory response|parturition	cytosol|early endosome membrane|extracellular region|mitochondrial membrane	calcium ion binding|calcium-dependent phospholipase A2 activity|calcium-dependent phospholipid binding|lysophospholipase activity			large_intestine(1)	1						TTCATGACTCAGGCCCGGGAG	0.612												
SPTBN5	51332	broad.mit.edu	37	15	42178429	42178429	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr15:42178429G>A	uc001zos.2	-	7	1252	c.919C>T	c.(919-921)CGG>TGG	p.R307W		NM_016642	NP_057726	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	342	Spectrin 1.				actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin				ovary(1)|central_nervous_system(1)	2		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		AGTAGCTGCCGCATGGCGGGC	0.637												
SLC24A5	283652	broad.mit.edu	37	15	48428959	48428959	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr15:48428959A>G	uc001zwe.2	+	6	743	c.670A>G	c.(670-672)ATT>GTT	p.I224V	SLC24A5_uc010bel.2_Missense_Mutation_p.I164V|uc001zwf.1_RNA	NM_205850	NP_995322	Q71RS6	NCKX5_HUMAN	solute carrier family 24, member 5 precursor	224	Cytoplasmic (Potential).				response to stimulus	integral to membrane|melanosome|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity				0		all_lung(180;0.00217)		all cancers(107;3.29e-10)|GBM - Glioblastoma multiforme(94;7.32e-07)		TAACCAATATATTATAAAGAA	0.388												
CEP152	22995	broad.mit.edu	37	15	49044577	49044577	+	Silent	SNP	G	G	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr15:49044577G>T	uc001zwy.2	-	21	3469	c.3435C>A	c.(3433-3435)CCC>CCA	p.P1145P	CEP152_uc001zwz.2_Silent_p.P1145P|CEP152_uc001zxa.1_Silent_p.P1052P	NM_014985	NP_055800	O94986	CE152_HUMAN	centrosomal protein 152kDa	1145					centrosome duplication|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein kinase binding			lung(2)	2		all_lung(180;0.0428)		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)		GTAAGGCCAAGGGCTGAGCAT	0.438												
CEP152	22995	broad.mit.edu	37	15	49048345	49048345	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr15:49048345G>A	uc001zwy.2	-	20	3134	c.3100C>T	c.(3100-3102)CGG>TGG	p.R1034W	CEP152_uc001zwz.2_Missense_Mutation_p.R1034W|CEP152_uc001zxa.1_Missense_Mutation_p.R941W	NM_014985	NP_055800	O94986	CE152_HUMAN	centrosomal protein 152kDa	1034					centrosome duplication|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein kinase binding			lung(2)	2		all_lung(180;0.0428)		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)		AGTTGGATCCGCTTGGCTTCC	0.413												
CEP152	22995	broad.mit.edu	37	15	49048347	49048347	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr15:49048347T>C	uc001zwy.2	-	20	3132	c.3098A>G	c.(3097-3099)AAG>AGG	p.K1033R	CEP152_uc001zwz.2_Missense_Mutation_p.K1033R|CEP152_uc001zxa.1_Missense_Mutation_p.K940R	NM_014985	NP_055800	O94986	CE152_HUMAN	centrosomal protein 152kDa	1033					centrosome duplication|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein kinase binding			lung(2)	2		all_lung(180;0.0428)		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)		TTGGATCCGCTTGGCTTCCTG	0.413												
CYP19A1	1588	broad.mit.edu	37	15	51504611	51504611	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr15:51504611T>C	uc001zyz.3	-	10	1420	c.1169A>G	c.(1168-1170)AAG>AGG	p.K390R	CYP19A1_uc001zza.3_Missense_Mutation_p.K390R|CYP19A1_uc001zzb.2_Missense_Mutation_p.K390R	NM_031226	NP_112503	P11511	CP19A_HUMAN	cytochrome P450, family 19	390					estrogen biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|membrane fraction	aromatase activity|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity			skin(3)	3				all cancers(107;0.000372)|GBM - Glioblastoma multiforme(94;0.0128)	Aminoglutethimide(DB00357)|Anastrozole(DB01217)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Diethylstilbestrol(DB00255)|Exemestane(DB00990)|Letrozole(DB01006)|Testolactone(DB00894)|Testosterone(DB00624)	GTTTGTCCCCTTTTTCACTGG	0.413												
DMXL2	23312	broad.mit.edu	37	15	51829690	51829690	+	Missense_Mutation	SNP	C	C	G			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr15:51829690C>G	uc002abf.2	-	11	1837	c.1612G>C	c.(1612-1614)GTT>CTT	p.V538L	DMXL2_uc010ufy.1_Missense_Mutation_p.V538L|DMXL2_uc010bfa.2_Missense_Mutation_p.V538L	NM_015263	NP_056078	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	538						cell junction|synaptic vesicle membrane	Rab GTPase binding			ovary(6)|skin(3)	9				all cancers(107;0.00494)		TATACCTGAACTTGTCTAAAT	0.284												
SNX1	6642	broad.mit.edu	37	15	64424090	64424090	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr15:64424090G>A	uc002amv.2	+	11	1256	c.1220G>A	c.(1219-1221)CGC>CAC	p.R407H	SNX1_uc010bgv.2_Missense_Mutation_p.R121H|SNX1_uc010uio.1_Missense_Mutation_p.R407H|SNX1_uc002amw.2_Missense_Mutation_p.R407H|SNX1_uc002amx.2_Missense_Mutation_p.R342H|SNX1_uc002amy.2_Missense_Mutation_p.R336H|SNX1_uc010bgw.2_Missense_Mutation_p.R309H	NM_003099	NP_003090	Q13596	SNX1_HUMAN	sorting nexin 1 isoform a	407	BAR.				cell communication|early endosome to Golgi transport|endocytosis|intracellular protein transport	early endosome membrane|Golgi apparatus	phosphatidylinositol binding|protein binding|protein transporter activity				0						GCCATAGTCCGCGTAAGCTTC	0.468												
TRIP4	9325	broad.mit.edu	37	15	64689965	64689965	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr15:64689965G>A	uc002anm.2	+	4	609	c.566G>A	c.(565-567)CGC>CAC	p.R189H		NM_016213	NP_057297	Q15650	TRIP4_HUMAN	thyroid hormone receptor interactor 4	189					positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	ligand-dependent nuclear receptor binding|transcription coactivator activity|zinc ion binding			ovary(1)|kidney(1)|skin(1)	3						ATCTGTGGGCGCATTGTCTGT	0.468												
IGDCC3	9543	broad.mit.edu	37	15	65623874	65623874	+	Silent	SNP	G	G	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr15:65623874G>A	uc002aos.2	-	8	1524	c.1272C>T	c.(1270-1272)CCC>CCT	p.P424P	IGDCC3_uc002aor.1_5'Flank	NM_004884	NP_004875	Q8IVU1	IGDC3_HUMAN	putative neuronal cell adhesion molecule	424	Extracellular (Potential).|Fibronectin type-III 1.									ovary(3)	3						GGGGAGGCCCGGGGAGCCCCT	0.622												
SMAD6	4091	broad.mit.edu	37	15	67073679	67073679	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr15:67073679G>A	uc002aqf.2	+	4	2220	c.1297G>A	c.(1297-1299)GGC>AGC	p.G433S	SMAD6_uc010bhx.2_RNA|SMAD6_uc002aqg.2_Missense_Mutation_p.G172S	NM_005585	NP_005576	O43541	SMAD6_HUMAN	SMAD family member 6 isoform 1	433	MH2.				BMP signaling pathway|immune response|negative regulation of apoptosis|negative regulation of BMP signaling pathway|negative regulation of caspase activity|negative regulation of pathway-restricted SMAD protein phosphorylation|negative regulation of SMAD protein complex assembly|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of S phase of mitotic cell cycle|response to laminar fluid shear stress|transforming growth factor beta receptor signaling pathway|zygotic specification of dorsal/ventral axis	cytosol|transcription factor complex	co-SMAD binding|I-SMAD binding|R-SMAD binding|sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, inhibitory cytoplasmic mediator activity|type I activin receptor binding|type I transforming growth factor beta receptor binding|ubiquitin protein ligase binding			skin(1)	1						GGTGCCCCCCGGCTACTCCAT	0.726												
MYO9A	4649	broad.mit.edu	37	15	72338102	72338102	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr15:72338102A>G	uc002atl.3	-	2	1276	c.803T>C	c.(802-804)GTA>GCA	p.V268A	MYO9A_uc010biq.2_Intron|MYO9A_uc002ato.2_Missense_Mutation_p.V268A|MYO9A_uc002atn.1_Missense_Mutation_p.V268A	NM_006901	NP_008832	B2RTY4	MYO9A_HUMAN	myosin IXA	268	Myosin head-like 1.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity			ovary(1)|pancreas(1)|skin(1)	3						AATCTGTTCTACTCCACTGGC	0.378												
SIN3A	25942	broad.mit.edu	37	15	75705355	75705355	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr15:75705355A>G	uc002bai.2	-	5	764	c.505T>C	c.(505-507)TCC>CCC	p.S169P	SIN3A_uc002baj.2_Missense_Mutation_p.S169P|SIN3A_uc010uml.1_Missense_Mutation_p.S169P	NM_015477	NP_056292	Q96ST3	SIN3A_HUMAN	transcriptional co-repressor Sin3A	169	Interaction with HCFC1.|PAH 1.				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						AATAGCTGGGACACACGACTA	0.413												
SNX33	257364	broad.mit.edu	37	15	75942332	75942332	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr15:75942332C>T	uc002bau.2	+	1	985	c.889C>T	c.(889-891)CGC>TGC	p.R297C	IMP3_uc002bat.2_5'Flank|SNX33_uc002bav.2_5'UTR	NM_153271	NP_695003	Q8WV41	SNX33_HUMAN	sorting nexin 33	297	PX.				cell communication		phosphatidylinositol binding|protein binding			ovary(1)	1						GGCCACTGGCCGCTTCGAGGA	0.572												
CSPG4	1464	broad.mit.edu	37	15	75979930	75979930	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr15:75979930C>T	uc002baw.2	-	3	3569	c.3476G>A	c.(3475-3477)CGC>CAC	p.R1159H		NM_001897	NP_001888	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4 precursor	1159	Interaction with COL5A1 (By similarity).|Extracellular (Potential).|Gly/Ser-rich (glycosaminoglycan attachment domain).|CSPG 7.				angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane	protein kinase binding|signal transducer activity			ovary(2)|pancreas(1)	3						ATCCCCACTGCGGATGTCGAG	0.657												
CSPG4	1464	broad.mit.edu	37	15	75981580	75981580	+	Missense_Mutation	SNP	G	G	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr15:75981580G>T	uc002baw.2	-	3	1919	c.1826C>A	c.(1825-1827)CCT>CAT	p.P609H		NM_001897	NP_001888	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4 precursor	609	Extracellular (Potential).|CSPG 2.|Globular or compact configuration stabilized by disulfide bonds.|Interaction with COL6A2 (By similarity).|Neurite growth inhibition (By similarity).				angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane	protein kinase binding|signal transducer activity			ovary(2)|pancreas(1)	3						CGGCTCCCCAGGCTGGTCTCG	0.667												
AGBL1	123624	broad.mit.edu	37	15	86940602	86940602	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr15:86940602C>T	uc002blz.1	+	17	2322	c.2242C>T	c.(2242-2244)CGT>TGT	p.R748C		NM_152336	NP_689549	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	748					C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding				0						TGCAGGACATCGTCCATATCA	0.398												
LRRK1	79705	broad.mit.edu	37	15	101562123	101562123	+	Missense_Mutation	SNP	C	C	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr15:101562123C>A	uc002bwr.2	+	14	2132	c.1813C>A	c.(1813-1815)CTG>ATG	p.L605M	LRRK1_uc010usb.1_RNA|LRRK1_uc010usc.1_RNA	NM_024652	NP_078928	Q38SD2	LRRK1_HUMAN	leucine-rich repeat kinase 1	605	LRR 13.				small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			ovary(4)|lung(4)|central_nervous_system(3)|large_intestine(1)	12	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			CACTGAAGACCTGACCATCAG	0.582												
LRRK1	79705	broad.mit.edu	37	15	101593607	101593607	+	Silent	SNP	C	C	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr15:101593607C>T	uc002bwr.2	+	26	4355	c.4036C>T	c.(4036-4038)CTG>TTG	p.L1346L	LRRK1_uc010usb.1_RNA|LRRK1_uc010usc.1_RNA|LRRK1_uc002bws.2_RNA	NM_024652	NP_078928	Q38SD2	LRRK1_HUMAN	leucine-rich repeat kinase 1	1346	Protein kinase.				small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			ovary(4)|lung(4)|central_nervous_system(3)|large_intestine(1)	12	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			CAACACCGTGCTGTCCGAGAA	0.592												
PDIA2	64714	broad.mit.edu	37	16	336905	336905	+	Missense_Mutation	SNP	C	C	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr16:336905C>A	uc002cgn.1	+	15	2601	c.1493C>A	c.(1492-1494)CCC>CAC	p.P498H	PDIA2_uc010bqt.1_Missense_Mutation_p.P343H|PDIA2_uc002cgo.1_Missense_Mutation_p.P498H	NM_006849	NP_006840	Q13087	PDIA2_HUMAN	protein disulfide isomerase A2 precursor	498					apoptosis|cell redox homeostasis|glycerol ether metabolic process|protein folding|protein retention in ER lumen|response to hypoxia	endoplasmic reticulum lumen	electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity|steroid binding			central_nervous_system(1)|skin(1)	2		all_cancers(16;6.71e-07)|all_epithelial(16;1.59e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00769)|all_lung(18;0.0186)				GGCGTGCTGCCCACGGAGGAG	0.617												
MSLNL	401827	broad.mit.edu	37	16	824999	824999	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr16:824999A>G	uc002cjz.1	-	7	1573	c.1573T>C	c.(1573-1575)TCC>CCC	p.S525P		NM_001025190	NP_001020361	Q96KJ4	MSLNL_HUMAN	mesothelin-like	174	Extracellular (Potential).				cell adhesion	integral to membrane				breast(3)|ovary(1)	4						TGCTGGTCGGAGGCGCTGAGT	0.736												
MAPK8IP3	23162	broad.mit.edu	37	16	1817604	1817604	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr16:1817604C>T	uc002cmk.2	+	27	3394	c.3274C>T	c.(3274-3276)CGG>TGG	p.R1092W	MAPK8IP3_uc002cml.2_Missense_Mutation_p.R1086W|MAPK8IP3_uc010uvl.1_Missense_Mutation_p.R1093W	NM_015133	NP_055948	Q9UPT6	JIP3_HUMAN	mitogen-activated protein kinase 8 interacting	1092					vesicle-mediated transport	Golgi membrane	kinesin binding|MAP-kinase scaffold activity|protein kinase binding			breast(2)|central_nervous_system(1)	3						GAGCCAGGTGCGGCAGCTGGC	0.642												
CCNF	899	broad.mit.edu	37	16	2489817	2489817	+	Missense_Mutation	SNP	G	G	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr16:2489817G>T	uc002cqd.1	+	8	855	c.767G>T	c.(766-768)TGG>TTG	p.W256L	CCNF_uc002cqe.1_5'UTR	NM_001761	NP_001752	P41002	CCNF_HUMAN	cyclin F	256					cell division|mitosis|negative regulation of centrosome duplication|protein ubiquitination|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	centriole|nucleus|SCF ubiquitin ligase complex	protein binding			central_nervous_system(1)|kidney(1)	2		Ovarian(90;0.17)				AAAGGCTGCTGGGAAGCGCAG	0.612												
PRSS27	83886	broad.mit.edu	37	16	2764172	2764172	+	Silent	SNP	C	C	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr16:2764172C>T	uc002crf.2	-	4	793	c.402G>A	c.(400-402)GTG>GTA	p.V134V	PRSS27_uc002cre.2_Silent_p.V98V|PRSS27_uc002crg.2_Silent_p.V32V|PRSS27_uc010bst.1_Silent_p.V32V	NM_031948	NP_114154	Q9BQR3	PRS27_HUMAN	marapsin precursor	134	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			ovary(1)	1						TGGTGAAGGGCACTGGTGCCT	0.647												
ZSCAN10	84891	broad.mit.edu	37	16	3139475	3139475	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr16:3139475G>A	uc002ctv.1	-	5	1883	c.1795C>T	c.(1795-1797)CGC>TGC	p.R599C	ZSCAN10_uc002cty.1_Missense_Mutation_p.R260C|ZSCAN10_uc002ctw.1_Missense_Mutation_p.R517C|ZSCAN10_uc002ctx.1_Missense_Mutation_p.R527C	NM_032805	NP_116194	Q96SZ4	ZSC10_HUMAN	zinc finger and SCAN domain containing 10	599	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						GTGTGGATGCGCTGGTGGCGC	0.716												
MEFV	4210	broad.mit.edu	37	16	3306386	3306386	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr16:3306386G>A	uc002cun.1	-	1	242	c.202C>T	c.(202-204)CAG>TAG	p.Q68*		NM_000243	NP_000234	O15553	MEFV_HUMAN	Mediterranean fever protein	68	DAPIN.				inflammatory response	cytoplasm|microtubule|microtubule associated complex|nucleus	actin binding|zinc ion binding			central_nervous_system(2)|skin(2)|ovary(1)|lung(1)	6					Colchicine(DB01394)	AGGGTGAGCTGCACGGCGTAC	0.657												
NLRC3	197358	broad.mit.edu	37	16	3614549	3614549	+	Missense_Mutation	SNP	G	G	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr16:3614549G>T	uc010btn.2	-	5	800	c.389C>A	c.(388-390)CCT>CAT	p.P130H		NM_178844	NP_849172	Q7RTR2	NLRC3_HUMAN	NOD3 protein	130					I-kappaB kinase/NF-kappaB cascade|negative regulation of NF-kappaB transcription factor activity|T cell activation	cytoplasm	ATP binding			ovary(2)|pancreas(2)|central_nervous_system(1)|skin(1)	6						CCGGGAGAGAGGCAGGAAGAG	0.701												
USP7	7874	broad.mit.edu	37	16	8995029	8995029	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr16:8995029G>A	uc002czl.2	-	19	2309	c.2110C>T	c.(2110-2112)CAT>TAT	p.H704Y	USP7_uc010uyk.1_Missense_Mutation_p.H605Y|USP7_uc002czj.2_RNA|USP7_uc010uyj.1_Missense_Mutation_p.H605Y|USP7_uc002czk.2_Missense_Mutation_p.H688Y	NM_003470	NP_003461	Q93009	UBP7_HUMAN	ubiquitin specific peptidase 7	704	Interaction with ICP0/VMW110.				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						GTGTAGATATGCCCACAGTAA	0.343												
GRIN2A	2903	broad.mit.edu	37	16	10031878	10031878	+	Missense_Mutation	SNP	C	C	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr16:10031878C>A	uc002czo.3	-	3	1493	c.945G>T	c.(943-945)GAG>GAT	p.E315D	GRIN2A_uc010uym.1_Missense_Mutation_p.E315D|GRIN2A_uc010uyn.1_Missense_Mutation_p.E158D|GRIN2A_uc002czr.3_Missense_Mutation_p.E315D	NM_001134407	NP_001127879	Q12879	NMDE1_HUMAN	N-methyl-D-aspartate receptor subunit 2A isoform	315	Extracellular (Potential).				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			skin(32)|NS(5)|ovary(4)|large_intestine(1)|lung(1)|breast(1)|kidney(1)	45					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	TGGCCTTGGCCTCGGGGATGT	0.577												
ERCC4	2072	broad.mit.edu	37	16	14041518	14041518	+	Missense_Mutation	SNP	C	C	T	rs149364215		TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr16:14041518C>T	uc002dce.2	+	11	2074	c.2065C>T	c.(2065-2067)CGT>TGT	p.R689C	ERCC4_uc010uyz.1_Missense_Mutation_p.R239C	NM_005236	NP_005227	Q92889	XPF_HUMAN	excision repair cross-complementing rodent	689	ERCC4.|Interaction with EME1 and ERCC1.				double-strand break repair via homologous recombination|meiotic mismatch repair|negative regulation of telomere maintenance|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|nucleotide-excision repair, DNA incision, 5'-to lesion|resolution of meiotic recombination intermediates|telomere maintenance via telomere shortening|transcription-coupled nucleotide-excision repair	nuclear chromosome, telomeric region|nucleoplasm|nucleotide-excision repair factor 1 complex	damaged DNA binding|protein C-terminus binding|protein N-terminus binding|single-stranded DNA binding|single-stranded DNA specific endodeoxyribonuclease activity			lung(4)|ovary(3)|skin(2)|pancreas(1)	10						TGTGGATATGCGTGAATTTCG	0.443			Mis|N|F			skin basal cell|skin squamous cell|melanoma		Direct_reversal_of_damage|NER	Xeroderma_Pigmentosum			
COQ7	10229	broad.mit.edu	37	16	19083251	19083251	+	Silent	SNP	T	T	G			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr16:19083251T>G	uc002dfr.2	+	2	135	c.75T>G	c.(73-75)GCT>GCG	p.A25A	COQ7_uc002dfs.2_Silent_p.A11A	NM_016138	NP_057222	Q99807	COQ7_HUMAN	COQ7 protein	25					ubiquinone biosynthetic process	mitochondrial inner membrane|nucleus	oxidoreductase activity|transition metal ion binding			skin(1)	1						GCATTTCAGCTTATGGAAGAA	0.403											OREG0023656	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
TMC5	79838	broad.mit.edu	37	16	19485561	19485561	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr16:19485561G>A	uc002dgc.3	+	12	2802	c.2053G>A	c.(2053-2055)GAG>AAG	p.E685K	TMC5_uc010vaq.1_Missense_Mutation_p.E633K|TMC5_uc002dgb.3_Missense_Mutation_p.E685K|TMC5_uc010var.1_Missense_Mutation_p.E685K|TMC5_uc002dgd.1_Missense_Mutation_p.E439K|TMC5_uc002dge.3_Missense_Mutation_p.E439K|TMC5_uc002dgf.3_Missense_Mutation_p.E368K|TMC5_uc002dgg.3_Missense_Mutation_p.E326K	NM_001105248	NP_001098718	Q6UXY8	TMC5_HUMAN	transmembrane channel-like 5 isoform a	685	Cytoplasmic (Potential).					integral to membrane				skin(1)	1						GGAGAGGTACGAGATGCCACG	0.552												
EEF2K	29904	broad.mit.edu	37	16	22268599	22268599	+	Missense_Mutation	SNP	G	G	A	rs143471765		TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr16:22268599G>A	uc002dki.2	+	8	1279	c.794G>A	c.(793-795)CGT>CAT	p.R265H	EEF2K_uc002dkh.2_RNA	NM_013302	NP_037434	O00418	EF2K_HUMAN	elongation factor-2 kinase	265	Alpha-type protein kinase.				insulin receptor signaling pathway|translational elongation	cytosol	ATP binding|calcium ion binding|calmodulin binding|elongation factor-2 kinase activity|translation factor activity, nucleic acid binding			large_intestine(1)	1				GBM - Glioblastoma multiforme(48;0.0223)		ACTTTTGAGCGTTCCGGCCAT	0.577												
EEF2K	29904	broad.mit.edu	37	16	22291646	22291646	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr16:22291646G>A	uc002dki.2	+	17	2502	c.2017G>A	c.(2017-2019)GAG>AAG	p.E673K	EEF2K_uc002dkh.2_RNA	NM_013302	NP_037434	O00418	EF2K_HUMAN	elongation factor-2 kinase	673					insulin receptor signaling pathway|translational elongation	cytosol	ATP binding|calcium ion binding|calmodulin binding|elongation factor-2 kinase activity|translation factor activity, nucleic acid binding			large_intestine(1)	1				GBM - Glioblastoma multiforme(48;0.0223)		CAGGGAGGCCGAGATGCTGTT	0.637												
HSD3B7	80270	broad.mit.edu	37	16	30999155	30999155	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr16:30999155G>A	uc002eaf.2	+	7	867	c.761G>A	c.(760-762)GGC>GAC	p.G254D	HSD3B7_uc010cac.2_3'UTR|HSD3B7_uc002eag.2_3'UTR|HSD3B7_uc002eah.2_Missense_Mutation_p.G254D	NM_025193	NP_079469	Q9H2F3	3BHS7_HUMAN	hydroxy-delta-5-steroid dehydrogenase, 3 beta-	254					bile acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|cholest-5-ene-3-beta,7-alpha-diol 3-beta-dehydrogenase activity				0						CTGATGGGCGGCCAGGTATAC	0.652												
ZNF668	79759	broad.mit.edu	37	16	31075373	31075373	+	Silent	SNP	G	G	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr16:31075373G>A	uc010caf.2	-	2	765	c.408C>T	c.(406-408)GGC>GGT	p.G136G	ZNF668_uc002eao.2_Silent_p.G136G|ZNF668_uc010cag.1_Silent_p.G136G	NM_024706	NP_078982	Q96K58	ZN668_HUMAN	zinc finger protein 668	136					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)	4						AGGGCAGTTCGCCAGCGTGCG	0.701												
HEATR3	55027	broad.mit.edu	37	16	50112651	50112651	+	Splice_Site	SNP	G	G	C			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr16:50112651G>C	uc002efw.2	+	7	926	c.764_splice	c.e7-1	p.G255_splice	HEATR3_uc002efx.2_Splice_Site_p.G169_splice	NM_182922	NP_891552	Q7Z4Q2	HEAT3_HUMAN	HEAT repeat containing 3								binding			ovary(1)|skin(1)	2						TTTTTTCCCAGGCACAATTTG	0.343												
RPGRIP1L	23322	broad.mit.edu	37	16	53675003	53675003	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr16:53675003C>T	uc002ehp.2	-	19	2964	c.2900G>A	c.(2899-2901)CGT>CAT	p.R967H	RPGRIP1L_uc002eho.3_Missense_Mutation_p.R967H|RPGRIP1L_uc010vgy.1_Missense_Mutation_p.R967H|RPGRIP1L_uc010cbx.2_Missense_Mutation_p.R967H|RPGRIP1L_uc010vgz.1_Missense_Mutation_p.R967H	NM_015272	NP_056087	Q68CZ1	FTM_HUMAN	RPGRIP1-like isoform a	967					negative regulation of G-protein coupled receptor protein signaling pathway	cell-cell junction|centrosome|cilium axoneme|microtubule basal body	thromboxane A2 receptor binding			ovary(1)	1		all_cancers(37;0.0973)				AGGTGTTAAACGTTGTCTTGG	0.353												
CCDC135	84229	broad.mit.edu	37	16	57760089	57760089	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr16:57760089G>A	uc002emi.2	+	13	1957	c.1868G>A	c.(1867-1869)CGT>CAT	p.R623H	CCDC135_uc002emj.2_Missense_Mutation_p.R623H|CCDC135_uc002emk.2_Missense_Mutation_p.R558H	NM_032269	NP_115645	Q8IY82	CC135_HUMAN	coiled-coil domain containing 135	623						cytoplasm				central_nervous_system(1)	1						TACCACTGCCGTGAGGACCAC	0.642												
CNGB1	1258	broad.mit.edu	37	16	57931726	57931726	+	Missense_Mutation	SNP	T	T	G			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr16:57931726T>G	uc002emt.2	-	30	3134	c.3069A>C	c.(3067-3069)AAA>AAC	p.K1023N	CNGB1_uc010cdh.2_Missense_Mutation_p.K1017N	NM_001297	NP_001288	Q14028	CNGB1_HUMAN	cyclic nucleotide gated channel beta 1 isoform	1023	Cytoplasmic (Potential).|cAMP (By similarity).				sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(3)|pancreas(1)	4						CAGATCCAGCTTTCAGCGTCA	0.592												
PRSS54	221191	broad.mit.edu	37	16	58314157	58314157	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr16:58314157C>T	uc002enf.2	-	7	1554	c.1159G>A	c.(1159-1161)GTG>ATG	p.V387M	PRSS54_uc002eng.2_Missense_Mutation_p.V387M|PRSS54_uc010vie.1_Missense_Mutation_p.V288M|CCDC113_uc002ene.2_3'UTR|CCDC113_uc010vid.1_3'UTR	NM_001080492	NP_001073961	Q6PEW0	PRS54_HUMAN	plasma kallikrein-like protein 4 precursor	387					proteolysis	extracellular region	serine-type endopeptidase activity			upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3						AAAACAAGCACGAAGGAAACC	0.463												
CDH8	1006	broad.mit.edu	37	16	61747823	61747823	+	Missense_Mutation	SNP	T	T	G			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr16:61747823T>G	uc002eog.1	-	10	1828	c.1576A>C	c.(1576-1578)AAA>CAA	p.K526Q		NM_001796	NP_001787	P55286	CADH8_HUMAN	cadherin 8, type 2 preproprotein	526	Extracellular (Potential).|Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(6)|skin(2)|breast(1)	9		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		TGTCCGTTTTTGGGATCATCT	0.378												
TK2	7084	broad.mit.edu	37	16	66551046	66551046	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr16:66551046A>G	uc002eos.2	-	8	962	c.737T>C	c.(736-738)ATT>ACT	p.I246T	TK2_uc010vip.1_Missense_Mutation_p.I107T|TK2_uc002eor.2_Missense_Mutation_p.I173T|TK2_uc010cdq.2_Intron|TK2_uc010cdr.2_Missense_Mutation_p.I155T|TK2_uc010viq.1_Missense_Mutation_p.I228T|TK2_uc010vir.1_Missense_Mutation_p.I221T	NM_004614	NP_004605	O00142	KITM_HUMAN	thymidine kinase 2, mitochondrial	204					pyrimidine base metabolic process|pyrimidine nucleoside salvage	mitochondrial matrix	ATP binding|phosphotransferase activity, alcohol group as acceptor|thymidine kinase activity				0		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0736)|Epithelial(162;0.237)		TACCAGCGGAATGACCTTCTC	0.502											OREG0032067	type=REGULATORY REGION|TFbs=RELA|Dataset=RELA (p65) ChIP-PET Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with paired-end diTag sequencing (ChIP-PET)
CMTM1	113540	broad.mit.edu	37	16	66612846	66612846	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr16:66612846C>T	uc002epi.3	+	4	575	c.452C>T	c.(451-453)TCC>TTC	p.S151F	CMTM1_uc002epb.3_RNA|CMTM1_uc002epc.3_RNA|CMTM1_uc002epd.3_RNA|CMTM1_uc002epe.3_RNA|CMTM1_uc002epf.3_RNA|CMTM1_uc002epg.3_RNA|CMTM1_uc002eph.3_3'UTR|CMTM1_uc002epl.3_Missense_Mutation_p.S104F|CMTM1_uc002epj.3_3'UTR|CMTM1_uc002epk.3_Missense_Mutation_p.S98F|CMTM1_uc002epa.3_3'UTR|CMTM1_uc002epn.3_3'UTR|CMTM1_uc002epo.3_RNA|CMTM1_uc002epp.3_RNA|CMTM1_uc002epq.3_RNA|CMTM1_uc010cds.2_RNA|CMTM1_uc002epr.3_Missense_Mutation_p.S268F|CMTM1_uc002epm.3_RNA|CMTM1_uc002eps.2_RNA|CMTM2_uc002ept.2_5'Flank|CMTM2_uc010cdu.2_5'Flank	NM_181269	NP_851786	Q8IZ96	CKLF1_HUMAN	chemokine-like factor superfamily 1 isoform 1	151					chemotaxis	extracellular space|integral to membrane	cytokine activity				0		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0702)|Epithelial(162;0.222)		AGGAAGCTTTCCCCCGCCAAG	0.597												
FAM65A	79567	broad.mit.edu	37	16	67576836	67576836	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr16:67576836A>G	uc010vjp.1	+	13	2303	c.2207A>G	c.(2206-2208)CAG>CGG	p.Q736R	FAM65A_uc010cei.1_Missense_Mutation_p.Q558R|FAM65A_uc002eth.2_Missense_Mutation_p.Q716R|FAM65A_uc010cej.2_Missense_Mutation_p.Q719R|FAM65A_uc002eti.1_Missense_Mutation_p.Q679R|FAM65A_uc010vjq.1_Missense_Mutation_p.Q730R|FAM65A_uc002etj.1_Missense_Mutation_p.Q715R|FAM65A_uc002etk.2_Missense_Mutation_p.Q715R	NM_024519	NP_078795	Q6ZS17	FA65A_HUMAN	hypothetical protein LOC79567	720	Pro-rich.					cytoplasm	binding			ovary(2)|central_nervous_system(1)	3		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0474)|Epithelial(162;0.117)		TCCTACACTCAGGCAGACCCT	0.597												
SMPD3	55512	broad.mit.edu	37	16	68406042	68406042	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr16:68406042C>T	uc002ewa.2	-	3	465	c.43G>A	c.(43-45)GCC>ACC	p.A15T	SMPD3_uc010cfe.2_Missense_Mutation_p.A15T|SMPD3_uc010vlh.1_Missense_Mutation_p.A15T	NM_018667	NP_061137	Q9NY59	NSMA2_HUMAN	neutral sphingomyelin phosphodiesterase 3	15	Helical; (Potential).				cell cycle|multicellular organismal development|sphingomyelin catabolic process	Golgi membrane|integral to membrane|plasma membrane	metal ion binding|sphingomyelin phosphodiesterase activity			skin(1)	1		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0184)|Epithelial(162;0.0785)	Phosphatidylserine(DB00144)	CAGTGCAGGGCGGACAGACAG	0.627												
ZFP90	146198	broad.mit.edu	37	16	68597623	68597623	+	Silent	SNP	G	G	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr16:68597623G>A	uc010cff.2	+	5	1225	c.933G>A	c.(931-933)CAG>CAA	p.Q311Q	ZFP90_uc002ewb.2_Missense_Mutation_p.S117N|ZFP90_uc002ewc.2_Missense_Mutation_p.S117N|ZFP90_uc002ewd.2_Silent_p.Q311Q|ZFP90_uc002ewe.2_Silent_p.Q311Q	NM_133458	NP_597715	Q8TF47	ZFP90_HUMAN	zinc finger protein 90	311	C2H2-type 4.				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00233)|Epithelial(162;0.0184)|all cancers(182;0.0946)		AACCCTATCAGTGTAGTCTCT	0.488												
ZFP90	146198	broad.mit.edu	37	16	68598358	68598358	+	Silent	SNP	T	T	C			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr16:68598358T>C	uc010cff.2	+	5	1960	c.1668T>C	c.(1666-1668)ATT>ATC	p.I556I	ZFP90_uc002ewb.2_3'UTR|ZFP90_uc002ewc.2_3'UTR|ZFP90_uc002ewd.2_Silent_p.I556I|ZFP90_uc002ewe.2_Silent_p.I556I	NM_133458	NP_597715	Q8TF47	ZFP90_HUMAN	zinc finger protein 90	556	C2H2-type 11.				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00233)|Epithelial(162;0.0184)|all cancers(182;0.0946)		ATGAATGTATTGACTGTGGGA	0.438												
PDPR	55066	broad.mit.edu	37	16	70166194	70166194	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr16:70166194G>A	uc002eyf.1	+	9	1945	c.988G>A	c.(988-990)GAT>AAT	p.D330N	CLEC18C_uc002exy.2_Intron|PDPR_uc010vlr.1_Missense_Mutation_p.D230N|PDPR_uc002eyg.1_Missense_Mutation_p.D58N	NM_017990	NP_060460	Q8NCN5	PDPR_HUMAN	pyruvate dehydrogenase phosphatase regulatory	330					glycine catabolic process|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	aminomethyltransferase activity|oxidoreductase activity			breast(1)	1				BRCA - Breast invasive adenocarcinoma(221;0.124)		GGAAGACTGGGATCACTTTGG	0.398												
PKD1L2	114780	broad.mit.edu	37	16	81242146	81242146	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr16:81242146A>G	uc002fgh.1	-	4	710	c.710T>C	c.(709-711)CTG>CCG	p.L237P	PKD1L2_uc002fgj.2_Missense_Mutation_p.L237P	NM_052892	NP_443124	Q7Z442	PK1L2_HUMAN	polycystin 1-like 2 isoform a	237	SUEL-type lectin.|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						AGTCGGACACAGGTTTCCAAA	0.562												
CDT1	81620	broad.mit.edu	37	16	88871856	88871856	+	Missense_Mutation	SNP	A	A	C			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr16:88871856A>C	uc002flu.2	+	4	551	c.497A>C	c.(496-498)AAG>ACG	p.K166T		NM_030928	NP_112190	Q9H211	CDT1_HUMAN	chromatin licensing and DNA replication factor	166	Interaction with GMNN.				DNA replication|DNA replication checkpoint|M/G1 transition of mitotic cell cycle|regulation of DNA-dependent DNA replication initiation|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle	cytosol|nucleoplasm	DNA binding|protein binding			central_nervous_system(1)	1				BRCA - Breast invasive adenocarcinoma(80;0.0476)		AGTGGCGAGAAGGCGCCCGCC	0.687												
ANKRD11	29123	broad.mit.edu	37	16	89345552	89345552	+	Silent	SNP	G	G	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr16:89345552G>A	uc002fmx.1	-	9	7859	c.7398C>T	c.(7396-7398)TAC>TAT	p.Y2466Y	ANKRD11_uc002fmy.1_Silent_p.Y2466Y|ANKRD11_uc002fnc.1_Silent_p.Y2466Y|ANKRD11_uc002fna.1_Silent_p.Y131Y|ANKRD11_uc002fnb.1_Silent_p.Y2423Y	NM_013275	NP_037407	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	2466						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)		CGTACTCGGCGTAGCACTGGG	0.627												
SPG7	6687	broad.mit.edu	37	16	89592862	89592862	+	Silent	SNP	A	A	G			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr16:89592862A>G	uc002fnj.2	+	5	765	c.744A>G	c.(742-744)ACA>ACG	p.T248T	SPG7_uc002fni.2_Silent_p.T248T	NM_003119	NP_003110	Q9UQ90	SPG7_HUMAN	spastic paraplegia 7 isoform 1	248	Mitochondrial intermembrane (Potential).				cell death|nervous system development|protein catabolic process|proteolysis	integral to membrane|mitochondrial membrane	ATP binding|metalloendopeptidase activity|nucleoside-triphosphatase activity|unfolded protein binding|zinc ion binding				0		all_hematologic(23;0.00824)|Colorectal(91;0.102)		all cancers(4;1.39e-07)|OV - Ovarian serous cystadenocarcinoma(4;5.64e-06)|BRCA - Breast invasive adenocarcinoma(80;0.015)		ACAAGCGAACAGGATTCTTTG	0.393												
MYO1C	4641	broad.mit.edu	37	17	1371157	1371157	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr17:1371157G>A	uc002fsp.2	-	29	3164	c.2944C>T	c.(2944-2946)CAG>TAG	p.Q982*	MYO1C_uc002fsn.2_Nonsense_Mutation_p.Q963*|MYO1C_uc002fso.2_Nonsense_Mutation_p.Q947*|MYO1C_uc010vqj.1_Nonsense_Mutation_p.Q947*	NM_001080779	NP_001074248	O00159	MYO1C_HUMAN	myosin IC isoform a	982					mRNA transport|protein transport|transmembrane transport	basal plasma membrane|cytoplasm|filamentous actin|lateral plasma membrane|nuclear pore|nucleolus|nucleoplasm|stereocilium membrane	actin binding|ATP binding|calmodulin binding|motor activity				0				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		TCCGCACGCTGTACATGAAGC	0.428												
CAMKK1	84254	broad.mit.edu	37	17	3786411	3786411	+	Silent	SNP	C	C	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr17:3786411C>T	uc002fwt.2	-	6	667	c.573G>A	c.(571-573)CTG>CTA	p.L191L	CAMKK1_uc002fwu.2_Silent_p.L191L|CAMKK1_uc002fwv.2_Silent_p.L191L	NM_172206	NP_757343	Q8N5S9	KKCC1_HUMAN	calcium/calmodulin-dependent protein kinase 1	191	Protein kinase.				synaptic transmission	cytosol|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			ovary(1)	1				LUAD - Lung adenocarcinoma(2;2.11e-05)|Lung(3;0.0176)		GCTCCAGGGGCAGCAGCTGCT	0.617												
ZZEF1	23140	broad.mit.edu	37	17	3936194	3936194	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr17:3936194G>T	uc002fxe.2	-	41	6751	c.6687C>A	c.(6685-6687)TGC>TGA	p.C2229*	ZZEF1_uc002fxh.2_Nonsense_Mutation_p.C543*|ZZEF1_uc002fxi.2_Nonsense_Mutation_p.C464*	NM_015113	NP_055928	O43149	ZZEF1_HUMAN	zinc finger, ZZ type with EF hand domain 1	2229							calcium ion binding|zinc ion binding			ovary(2)|central_nervous_system(1)|pancreas(1)	4						GCTGCTTGATGCAGTGGTCTG	0.597												
ZZEF1	23140	broad.mit.edu	37	17	3974039	3974039	+	Silent	SNP	G	G	A	rs115914263	by1000genomes	TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr17:3974039G>A	uc002fxe.2	-	26	4078	c.4014C>T	c.(4012-4014)AAC>AAT	p.N1338N	ZZEF1_uc002fxj.1_Translation_Start_Site	NM_015113	NP_055928	O43149	ZZEF1_HUMAN	zinc finger, ZZ type with EF hand domain 1	1338							calcium ion binding|zinc ion binding			ovary(2)|central_nervous_system(1)|pancreas(1)	4						CAAAGGTGGCGTTCACAGCTT	0.403												
ENO3	2027	broad.mit.edu	37	17	4856098	4856098	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr17:4856098C>T	uc002gab.3	+	3	188	c.94C>T	c.(94-96)CGA>TGA	p.R32*	ENO3_uc010vsr.1_5'UTR|ENO3_uc002gac.3_Nonsense_Mutation_p.R32*|ENO3_uc010vss.1_Nonsense_Mutation_p.R32*|ENO3_uc010vst.1_5'Flank	NM_053013	NP_443739	P13929	ENOB_HUMAN	enolase 3	32					gluconeogenesis|glycolysis	phosphopyruvate hydratase complex	magnesium ion binding|phosphopyruvate hydratase activity			ovary(1)	1						AGGCCGATTCCGAGCAGCTGT	0.408												
SLC13A5	284111	broad.mit.edu	37	17	6606329	6606329	+	Missense_Mutation	SNP	C	C	G			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr17:6606329C>G	uc002gdj.2	-	5	764	c.676G>C	c.(676-678)GGG>CGG	p.G226R	SLC13A5_uc010vtf.1_Missense_Mutation_p.G226R|SLC13A5_uc010clq.2_Missense_Mutation_p.G183R|SLC13A5_uc002gdk.2_Missense_Mutation_p.G209R|SLC13A5_uc002gdl.1_Missense_Mutation_p.G208R	NM_177550	NP_808218	Q86YT5	S13A5_HUMAN	solute carrier family 13, member 5 isoform a	226	Helical; (Potential).					integral to membrane	citrate transmembrane transporter activity				0						GGTCCCGTCCCGGTCAGGGTG	0.642												
KDM6B	23135	broad.mit.edu	37	17	7752943	7752943	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr17:7752943G>A	uc002giw.1	+	11	3713	c.3337G>A	c.(3337-3339)GGT>AGT	p.G1113S	KDM6B_uc002gix.2_Missense_Mutation_p.G415S	NM_001080424	NP_001073893	O15054	KDM6B_HUMAN	lysine (K)-specific demethylase 6B	1113					inflammatory response	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			central_nervous_system(1)|pancreas(1)	2						GGTAGAGAGTGGTGACAAGGA	0.632												
USP43	124739	broad.mit.edu	37	17	9631908	9631908	+	Silent	SNP	C	C	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr17:9631908C>A	uc010cod.2	+	15	2973	c.2973C>A	c.(2971-2973)CCC>CCA	p.P991P	USP43_uc002gma.3_Silent_p.P680P|USP43_uc010vva.1_Silent_p.P986P|USP43_uc010coe.2_Silent_p.P788P|USP43_uc002gmc.3_Silent_p.P503P	NM_153210	NP_694942	Q70EL4	UBP43_HUMAN	ubiquitin specific protease 43	991					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			ovary(2)|lung(1)|breast(1)|central_nervous_system(1)	5						TAGACAGACCCCTGCAGGGGA	0.587												
MYH8	4626	broad.mit.edu	37	17	10315825	10315825	+	Silent	SNP	C	C	T	rs113680036	by1000genomes	TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr17:10315825C>T	uc002gmm.2	-	14	1373	c.1278G>A	c.(1276-1278)GCG>GCA	p.A426A	uc002gml.1_Intron	NM_002472	NP_002463	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle,	426	Myosin head-like.				muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			skin(6)|ovary(3)|breast(2)	11						GAGCACCCACCGCATTGTACA	0.493									Trismus-Pseudocamptodactyly_Syndrome_with_Cardiac_Myxoma_and_Freckling			
DNAH9	1770	broad.mit.edu	37	17	11757384	11757384	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr17:11757384C>T	uc002gne.2	+	50	9640	c.9572C>T	c.(9571-9573)GCG>GTG	p.A3191V	DNAH9_uc010coo.2_Missense_Mutation_p.A2485V	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9 isoform 2	3191	Stalk (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1)	20		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		GTCAGCGCTGCGGTGATGGTA	0.582												
FLCN	201163	broad.mit.edu	37	17	17117130	17117130	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr17:17117130G>A	uc002gra.3	-	14	2083	c.1579C>T	c.(1579-1581)CGA>TGA	p.R527*	PLD6_uc010cpn.2_Intron	NM_144997	NP_659434	Q8NFG4	FLCN_HUMAN	folliculin isoform 1	527					regulation of protein phosphorylation	cytoplasm|nucleus|plasma membrane	protein binding			thyroid(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)	3						TCTTTGGGTCGACTGTCCACC	0.512									Birt-Hogg-Dub__syndrome|Familial_Non-VHL_Clear_Cell_Renal_Cancer			
SREBF1	6720	broad.mit.edu	37	17	17720700	17720700	+	Silent	SNP	C	C	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr17:17720700C>T	uc002gru.1	-	8	1670	c.1476G>A	c.(1474-1476)ACG>ACA	p.T492T	SREBF1_uc002grp.1_Silent_p.T111T|SREBF1_uc002grq.1_Silent_p.T11T|SREBF1_uc002grr.1_Silent_p.T238T|SREBF1_uc002grs.1_Silent_p.T468T|SREBF1_uc002grt.1_Silent_p.T522T	NM_004176	NP_004167	P36956	SRBP1_HUMAN	sterol regulatory element binding transcription	492	Helical; (Potential).|Interaction with LMNA (By similarity).				cellular response to starvation|cholesterol metabolic process|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter	endoplasmic reticulum|endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane|nuclear envelope|nucleus	protein binding|protein binding|sequence-specific DNA binding transcription factor activity|sterol response element binding			skin(1)	1						GGAAGACGAGCGTGCACAGGG	0.692												
TOM1L2	146691	broad.mit.edu	37	17	17766052	17766052	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr17:17766052G>A	uc002grz.3	-	11	1352	c.1195C>T	c.(1195-1197)CGC>TGC	p.R399C	TOM1L2_uc002gry.3_Missense_Mutation_p.R349C|TOM1L2_uc010vwy.1_Missense_Mutation_p.R346C|TOM1L2_uc010cpr.2_Missense_Mutation_p.R354C|TOM1L2_uc010vwz.1_Missense_Mutation_p.R251C|TOM1L2_uc010vxa.1_Missense_Mutation_p.R301C|TOM1L2_uc002grv.3_Missense_Mutation_p.R132C	NM_001082968	NP_001076437	Q6ZVM7	TM1L2_HUMAN	target of myb1-like 2 isoform 3	399					intracellular protein transport	intracellular					0	all_neural(463;0.228)					TACGTCTTGCGCTGCTCAGCC	0.527												
MYO15A	51168	broad.mit.edu	37	17	18023410	18023410	+	Silent	SNP	C	C	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr17:18023410C>T	uc010vxh.1	+	2	1634	c.1296C>T	c.(1294-1296)ATC>ATT	p.I432I		NM_016239	NP_057323	Q9UKN7	MYO15_HUMAN	myosin XV	432	Myosin head-like.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			skin(4)|ovary(2)|pancreas(1)|breast(1)|central_nervous_system(1)	9	all_neural(463;0.228)					TGGATGACATCGCCGAGCTGG	0.642												
MYO15A	51168	broad.mit.edu	37	17	18039027	18039027	+	Silent	SNP	G	G	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr17:18039027G>A	uc010vxh.1	+	12	4823	c.4485G>A	c.(4483-4485)ACG>ACA	p.T1495T		NM_016239	NP_057323	Q9UKN7	MYO15_HUMAN	myosin XV	1495	Myosin head-like.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			skin(4)|ovary(2)|pancreas(1)|breast(1)|central_nervous_system(1)	9	all_neural(463;0.228)					TTGCATAGACGGATGCACAGG	0.438												
LLGL1	3996	broad.mit.edu	37	17	18140176	18140176	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr17:18140176G>A	uc002gsp.2	+	13	1595	c.1534G>A	c.(1534-1536)GAT>AAT	p.D512N		NM_004140	NP_004131	Q15334	L2GL1_HUMAN	lethal giant larvae homolog 1	512					cortical actin cytoskeleton organization|exocytosis|protein complex assembly	cortical actin cytoskeleton	protein kinase binding|structural molecule activity			breast(2)|skin(2)|ovary(1)|haematopoietic_and_lymphoid_tissue(1)	6	all_neural(463;0.228)					CTACAGTGACGATCCCCGGCT	0.632												
MAP2K3	5606	broad.mit.edu	37	17	21215543	21215543	+	Silent	SNP	G	G	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr17:21215543G>A	uc002gys.2	+	10	1129	c.864G>A	c.(862-864)CAG>CAA	p.Q288Q	MAP2K3_uc002gyt.2_Silent_p.Q259Q|MAP2K3_uc002gyu.2_Silent_p.Q259Q	NM_145109	NP_659731	P46734	MP2K3_HUMAN	mitogen-activated protein kinase kinase 3	288	Protein kinase.				activation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of transcription, DNA-dependent|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|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity				0				COAD - Colon adenocarcinoma(3;0.0131)|Colorectal(15;0.0553)		CGTCCCCCCAGCTCCCAGCCG	0.652												
NOS2	4843	broad.mit.edu	37	17	26116642	26116642	+	Silent	SNP	C	C	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr17:26116642C>T	uc002gzu.2	-	3	447	c.183G>A	c.(181-183)GTG>GTA	p.V61V	NOS2_uc010crh.1_Silent_p.V61V|NOS2_uc010wab.1_Silent_p.V61V	NM_000625	NP_000616	P35228	NOS2_HUMAN	nitric oxide synthase 2A	61					arginine catabolic process|defense response to Gram-negative bacterium|innate immune response in mucosa|nitric oxide biosynthetic process|peptidyl-cysteine S-nitrosylation|platelet activation|positive regulation of killing of cells of other organism|positive regulation of leukocyte mediated cytotoxicity|regulation of cellular respiration|regulation of insulin secretion|superoxide metabolic process	cytosol|nucleus	arginine binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|protein homodimerization activity|tetrahydrobiopterin binding			skin(2)|ovary(1)|breast(1)	4					Dexamethasone(DB01234)|Hydrocortisone(DB00741)|L-Arginine(DB00125)|L-Citrulline(DB00155)	TTCCCGTCTCCACGAGGGGCT	0.557												
CRYBA1	1411	broad.mit.edu	37	17	27580761	27580761	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr17:27580761T>C	uc002hdw.2	+	5	468	c.461T>C	c.(460-462)TTC>TCC	p.F154S		NM_005208	NP_005199	P05813	CRBA1_HUMAN	crystallin, beta A3	154	Beta/gamma crystallin 'Greek key' 3.				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)			ATGGGCTGGTTCAACAACGAA	0.453												
ANKRD13B	124930	broad.mit.edu	37	17	27936411	27936411	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr17:27936411C>T	uc002hei.2	+	7	907	c.794C>T	c.(793-795)ACG>ATG	p.T265M	ANKRD13B_uc002heh.2_Missense_Mutation_p.T133M|ANKRD13B_uc002hej.2_RNA	NM_152345	NP_689558	Q86YJ7	AN13B_HUMAN	ankyrin repeat domain 13B	265											0						AGTGAAAAGACGGAGATGGTG	0.602												
ATAD5	79915	broad.mit.edu	37	17	29161234	29161234	+	Silent	SNP	A	A	G			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr17:29161234A>G	uc002hfs.1	+	2	481	c.135A>G	c.(133-135)CCA>CCG	p.P45P	ATAD5_uc002hft.1_5'UTR	NM_024857	NP_079133	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5	45					response to DNA damage stimulus	nucleus	ATP binding|nucleoside-triphosphatase activity			ovary(3)	3		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)				ATTTATCACCACTAGGGAAGA	0.353												
ADAP2	55803	broad.mit.edu	37	17	29281495	29281495	+	Splice_Site	SNP	G	G	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr17:29281495G>A	uc002hfx.2	+	9	1084	c.805_splice	c.e9-1	p.Q269_splice	ADAP2_uc010csk.2_Splice_Site_p.Q275_splice|ADAP2_uc002hfy.2_Intron|ADAP2_uc010csl.2_Splice_Site	NM_018404	NP_060874	Q9NPF8	ADAP2_HUMAN	centaurin-alpha 2 protein						heart development|regulation of ARF GTPase activity	mitochondrial envelope|plasma membrane	ARF GTPase activator activity|inositol 1,3,4,5 tetrakisphosphate binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding, bridging|zinc ion binding	p.?(1)		ovary(1)	1						CTCTTTTGCAGCAGAAAGAAC	0.537												
PSMD11	5717	broad.mit.edu	37	17	30796051	30796051	+	Silent	SNP	C	C	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr17:30796051C>T	uc010cta.1	+	6	523	c.483C>T	c.(481-483)GAC>GAT	p.D161D	PSMD11_uc010wbz.1_Silent_p.D161D|PSMD11_uc002hhm.2_Silent_p.D161D	NM_002815	NP_002806	O00231	PSD11_HUMAN	proteasome 26S non-ATPase subunit 11	161					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|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|viral reproduction	proteasome complex	protein binding			ovary(1)	1		Breast(31;0.159)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.109)			AAAAGATGGACGACAAAGCTC	0.448												
CCL7	6354	broad.mit.edu	37	17	32597332	32597332	+	Missense_Mutation	SNP	T	T	G			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr17:32597332T>G	uc002hhz.2	+	1	93	c.23T>G	c.(22-24)CTG>CGG	p.L8R	CCL7_uc010ctf.2_RNA	NM_006273	NP_006264	P80098	CCL7_HUMAN	chemokine (C-C motif) ligand 7 precursor	8					cell-cell signaling|cellular calcium ion homeostasis|chemotaxis|immune response|inflammatory response|signal transduction	extracellular space	chemokine activity|heparin binding			ovary(1)	1	Breast(3;0.00224)	Breast(31;0.151)|Ovarian(249;0.17)		BRCA - Breast invasive adenocarcinoma(366;0.155)		GCAGCACTTCTGTGTCTGCTG	0.572												
SLFN12	55106	broad.mit.edu	37	17	33749721	33749721	+	Silent	SNP	T	T	C			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr17:33749721T>C	uc002hji.3	-	2	704	c.327A>G	c.(325-327)TCA>TCG	p.S109S	SLFN12_uc002hjj.3_Silent_p.S109S|SLFN12_uc010cts.2_Silent_p.S109S	NM_018042	NP_060512	Q8IYM2	SLN12_HUMAN	schlafen family member 12	109							ATP binding			skin(1)	1		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		TCAAGCTCCATGACTTCACAA	0.383												
MMP28	79148	broad.mit.edu	37	17	34106027	34106027	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr17:34106027T>C	uc002hjy.1	-	3	503	c.244A>G	c.(244-246)ACC>GCC	p.T82A	MMP28_uc002hjw.1_RNA|MMP28_uc002hjz.1_RNA|MMP28_uc002hka.2_Missense_Mutation_p.T82A	NM_024302	NP_077278	Q9H239	MMP28_HUMAN	matrix metalloproteinase 28 isoform 1	82					proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			skin(1)	1		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		TGGCGCAGGGTGGCGCGGTCC	0.607												
C17orf66	256957	broad.mit.edu	37	17	34192249	34192249	+	Missense_Mutation	SNP	T	T	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr17:34192249T>A	uc002hke.1	-	3	439	c.290A>T	c.(289-291)AAG>ATG	p.K97M	C17orf66_uc010wck.1_RNA|C17orf66_uc010wcl.1_Missense_Mutation_p.K97M|C17orf66_uc010wcm.1_Missense_Mutation_p.K63M	NM_152781	NP_689994	A2RTY3	CQ066_HUMAN	hypothetical protein LOC256957	97							binding			breast(2)|skin(1)	3		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0184)		CCTCAACATCTTCTCAGCCTC	0.488												
MYO19	80179	broad.mit.edu	37	17	34856703	34856703	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr17:34856703G>A	uc010wcy.1	-	24	3336	c.2344C>T	c.(2344-2346)CGG>TGG	p.R782W	MYO19_uc002hmw.2_Missense_Mutation_p.R582W|MYO19_uc010cuu.2_RNA	NM_001163735	NP_001157207	Q96H55	MYO19_HUMAN	myosin XIX isoform 2	782						mitochondrial outer membrane|myosin complex	actin binding|ATP binding|motor activity			ovary(1)	1		Breast(25;0.00957)|Ovarian(249;0.17)	Kidney(155;0.104)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		CGCCACTGCCGCTCCTGCTCT	0.642												
GGNBP2	79893	broad.mit.edu	37	17	34913105	34913105	+	Missense_Mutation	SNP	G	G	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr17:34913105G>T	uc002hnb.2	+	4	606	c.357G>T	c.(355-357)AAG>AAT	p.K119N	GGNBP2_uc002hna.2_Missense_Mutation_p.K119N	NM_024835	NP_079111	Q9H3C7	GGNB2_HUMAN	zinc finger protein 403	119					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasmic membrane-bounded vesicle				ovary(2)	2		Breast(25;0.00957)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)		TAGGGCCCAAGGGAGTCCTGT	0.443												
RARA	5914	broad.mit.edu	37	17	38510653	38510653	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr17:38510653G>A	uc002huk.1	+	7	1362	c.907G>A	c.(907-909)GGC>AGC	p.G303S	RARA_uc002hul.3_Missense_Mutation_p.G303S|RARA_uc010wfe.1_Missense_Mutation_p.G206S|RARA_uc002hun.1_Missense_Mutation_p.G298S	NM_000964	NP_000955	P10276	RARA_HUMAN	retinoic acid receptor, alpha isoform 1	303	Ligand-binding.				apoptotic cell clearance|cellular response to estrogen stimulus|cellular response to retinoic acid|estrogen receptor signaling pathway|negative regulation of granulocyte differentiation|negative regulation of interferon-gamma production|negative regulation of tumor necrosis factor production|positive regulation of binding|positive regulation of cell cycle|positive regulation of cell proliferation|positive regulation of interleukin-13 production|positive regulation of interleukin-4 production|positive regulation of interleukin-5 production|positive regulation of T-helper 2 cell differentiation|positive regulation of transcription from RNA polymerase II promoter|protein phosphorylation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to estradiol stimulus	cytoplasm|nucleoplasm	chromatin DNA binding|enzyme binding|protein domain specific binding|protein heterodimerization activity|receptor binding|retinoic acid binding|retinoic acid receptor activity|retinoic acid-responsive element binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			ovary(1)|lung(1)|breast(1)	3		Breast(137;0.00328)	STAD - Stomach adenocarcinoma(5;0.00143)		Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Isotretinoin(DB00982)|Tamibarotene(DB04942)|Tazarotene(DB00799)	CGCTGGCTTCGGCCCCCTCAC	0.647			T	PML|ZNF145|TIF1|NUMA1|NPM1	APL							
KRT222	125113	broad.mit.edu	37	17	38818172	38818172	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr17:38818172G>A	uc002hvc.2	-	2	286	c.221C>T	c.(220-222)GCT>GTT	p.A74V	KRT222_uc010wfk.1_RNA|KRT222_uc002hvb.2_Missense_Mutation_p.A34V|KRT222_uc010cxc.2_Missense_Mutation_p.A34V	NM_152349	NP_689562	Q8N1A0	KT222_HUMAN	truncated type I keratin KA21	74	Potential.					intermediate filament	structural molecule activity			central_nervous_system(1)|skin(1)	2						TCTCACCACAGCATGGAGAGA	0.458												
HDAC5	10014	broad.mit.edu	37	17	42162480	42162480	+	Silent	SNP	G	G	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr17:42162480G>A	uc002ifd.1	-	15	2305	c.2094C>T	c.(2092-2094)TGC>TGT	p.C698C	HDAC5_uc002ife.1_Silent_p.C698C|HDAC5_uc002iff.1_Silent_p.C699C|HDAC5_uc010czp.1_Intron|HDAC5_uc002ifg.1_Silent_p.C8C|HDAC5_uc002ifh.2_Silent_p.C698C	NM_005474	NP_005465	Q9UQL6	HDAC5_HUMAN	histone deacetylase 5 isoform 1	698	Histone deacetylase.				B cell differentiation|cellular response to insulin stimulus|chromatin remodeling|chromatin silencing|inflammatory response|negative regulation of cell migration involved in sprouting angiogenesis|negative regulation of myotube differentiation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|transcription, DNA-dependent	cytoplasm|histone deacetylase complex	histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein kinase C binding|repressing transcription factor binding			ovary(1)	1		Breast(137;0.00637)|Prostate(33;0.0313)		BRCA - Breast invasive adenocarcinoma(366;0.118)		GTGTGTTCCCGCACATGCACT	0.612												
GRN	2896	broad.mit.edu	37	17	42426635	42426635	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr17:42426635G>A	uc002igp.1	+	2	322	c.103G>A	c.(103-105)GGA>AGA	p.G35R	GRN_uc002igq.1_Missense_Mutation_p.G35R|GRN_uc002igr.1_5'Flank	NM_002087	NP_002078	P28799	GRN_HUMAN	granulin precursor	35					signal transduction	extracellular space	cytokine activity|growth factor activity			ovary(2)|central_nervous_system(2)|skin(1)	5		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.189)		CCTGGACCCCGGAGGAGCCAG	0.637												
KIAA1267	284058	broad.mit.edu	37	17	44249126	44249126	+	Silent	SNP	C	C	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr17:44249126C>T	uc002ikb.2	-	1	469	c.384G>A	c.(382-384)CAG>CAA	p.Q128Q	KIAA1267_uc002ikc.2_Silent_p.Q128Q|KIAA1267_uc002ikd.2_Silent_p.Q128Q|KIAA1267_uc010dav.2_Silent_p.Q128Q	NM_015443	NP_056258	Q7Z3B3	K1267_HUMAN	hypothetical protein LOC284058	128						MLL1 complex	protein binding			skin(2)	2		Melanoma(429;0.211)				CCAAAACTGGCTGTCTCCCCA	0.453												
HEATR6	63897	broad.mit.edu	37	17	58132907	58132907	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr17:58132907G>A	uc002iyk.1	-	14	2275	c.2258C>T	c.(2257-2259)GCA>GTA	p.A753V	HEATR6_uc010ddk.1_Missense_Mutation_p.A292V|HEATR6_uc010wos.1_Intron	NM_022070	NP_071353	Q6AI08	HEAT6_HUMAN	HEAT repeat containing 6	753				A -> T (in Ref. 5; AAL83912).			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)			ATCAGGTGCTGCAGTGGAGTC	0.393												
TLK2	11011	broad.mit.edu	37	17	60598172	60598172	+	Silent	SNP	C	C	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr17:60598172C>T	uc010ddp.2	+	3	388	c.120C>T	c.(118-120)TGC>TGT	p.C40C	TLK2_uc002izx.3_5'UTR|TLK2_uc002izz.3_Silent_p.C40C|TLK2_uc002jaa.3_Silent_p.C40C|TLK2_uc010wpd.1_Silent_p.C40C	NM_006852	NP_006843	Q86UE8	TLK2_HUMAN	tousled-like kinase 2 isoform A	40					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						AGAGCTTGTGCAGCGTCGGAT	0.323												
AMZ2	51321	broad.mit.edu	37	17	66246991	66246991	+	Missense_Mutation	SNP	T	T	G			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr17:66246991T>G	uc002jgs.1	+	4	457	c.340T>G	c.(340-342)TAC>GAC	p.Y114D	AMZ2_uc002jgr.1_Missense_Mutation_p.Y114D|AMZ2_uc002jgt.1_Missense_Mutation_p.Y114D|AMZ2_uc002jgu.1_Missense_Mutation_p.Y114D|AMZ2_uc002jgv.1_Missense_Mutation_p.Y114D|AMZ2_uc002jgw.1_Intron|AMZ2_uc002jgy.1_Missense_Mutation_p.Y114D	NM_001033572	NP_001028744	Q86W34	AMZ2_HUMAN	archaemetzincins-2 isoform 1	114							metallopeptidase activity|zinc ion binding				0	all_cancers(12;1.12e-09)		BRCA - Breast invasive adenocarcinoma(8;3.17e-08)|LUSC - Lung squamous cell carcinoma(166;0.24)			GCTCACGGGCTACTGTAAAGC	0.353												
SOX9	6662	broad.mit.edu	37	17	70120097	70120097	+	Missense_Mutation	SNP	C	C	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr17:70120097C>A	uc002jiw.2	+	3	1471	c.1099C>A	c.(1099-1101)CCA>ACA	p.P367T		NM_000346	NP_000337	P48436	SOX9_HUMAN	transcription factor SOX9	367	Gln/Pro-rich.				cAMP-mediated signaling|negative regulation of transcription, DNA-dependent|positive regulation of branching involved in ureteric bud morphogenesis|protein complex assembly|renal vesicle induction	nucleus|protein complex	core promoter sequence-specific DNA binding|enhancer binding|protein kinase A catalytic subunit binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription				0		Colorectal(1115;0.245)	STAD - Stomach adenocarcinoma(260;0.119)			ggcggcgcccccacagcagcc	0.269												
SLC39A11	201266	broad.mit.edu	37	17	70645098	70645098	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr17:70645098T>C	uc002jjb.2	-	9	909	c.794A>G	c.(793-795)TAT>TGT	p.Y265C	SLC39A11_uc002jja.2_Missense_Mutation_p.Y258C	NM_001159770	NP_001153242	Q8N1S5	S39AB_HUMAN	solute carrier family 39, member 11 isoform 1	265	Helical; (Potential).				zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			ovary(1)	1						CAGCTGCCCATACCTAAGGAG	0.612												
C17orf80	55028	broad.mit.edu	37	17	71238436	71238436	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr17:71238436G>A	uc002jjm.3	+	4	1761	c.1567G>A	c.(1567-1569)GGA>AGA	p.G523R	C17orf80_uc010wqu.1_Intron|C17orf80_uc010dfj.2_Intron|C17orf80_uc002jjk.1_Missense_Mutation_p.G523R|C17orf80_uc002jjl.3_Intron	NM_017941	NP_060411	Q9BSJ5	CQ080_HUMAN	lung cancer-related protein 8 isoform a	523	Extracellular (Potential).					integral to membrane				skin(1)	1			LUSC - Lung squamous cell carcinoma(166;0.197)			ACCCCCTGCCGGACTTACAAC	0.463												
GRIN2C	2905	broad.mit.edu	37	17	72846719	72846719	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr17:72846719C>T	uc002jlt.1	-	5	1457	c.1301G>A	c.(1300-1302)CGC>CAC	p.R434H	GRIN2C_uc010wrh.1_RNA|GRIN2C_uc002jlu.1_Missense_Mutation_p.R434H|GRIN2C_uc002jlv.1_3'UTR	NM_000835	NP_000826	Q14957	NMDE3_HUMAN	N-methyl-D-aspartate receptor subunit 2C	434	Extracellular (Potential).				glutamate signaling pathway	cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|N-methyl-D-aspartate selective glutamate receptor activity			ovary(2)|breast(2)	4	all_lung(278;0.172)|Lung NSC(278;0.207)				Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)	GCTCTGCCTGCGGCAGGGCAC	0.647												
C17orf28	283987	broad.mit.edu	37	17	72956269	72956269	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr17:72956269T>C	uc002jmj.3	-	7	952	c.803A>G	c.(802-804)TAC>TGC	p.Y268C	C17orf28_uc010wrs.1_Missense_Mutation_p.Y67C|C17orf28_uc002jmk.2_Missense_Mutation_p.Y267C	NM_030630	NP_085133	Q8IV36	CQ028_HUMAN	hypothetical protein LOC283987	268						integral to membrane|plasma membrane	protein binding				0	all_lung(278;0.151)|Lung NSC(278;0.185)					CAGGTGGTTGTAGGGGATCCC	0.617												
NUP85	79902	broad.mit.edu	37	17	73231232	73231232	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr17:73231232G>A	uc002jng.1	+	18	2065	c.1805G>A	c.(1804-1806)CGG>CAG	p.R602Q	NUP85_uc010dgd.1_Missense_Mutation_p.R557Q|NUP85_uc010wrv.1_Missense_Mutation_p.R556Q|NUP85_uc002jnh.1_Missense_Mutation_p.R205Q	NM_024844	NP_079120	Q9BW27	NUP85_HUMAN	nucleoporin 85	602					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)			GAGTTGATGCGGTGTCTGGAG	0.532												
MIF4GD	57409	broad.mit.edu	37	17	73263620	73263620	+	Missense_Mutation	SNP	T	T	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr17:73263620T>A	uc002jnr.2	-	5	569	c.440A>T	c.(439-441)GAG>GTG	p.E147V	MIF4GD_uc002jno.2_Missense_Mutation_p.E188V|MIF4GD_uc002jnp.2_Missense_Mutation_p.E181V|MIF4GD_uc002jnq.2_Missense_Mutation_p.E188V			A9UHW6	MI4GD_HUMAN	RecName: Full=MIF4G domain-containing protein; AltName: Full=SLBP-interacting protein 1;          Short=hSLIP1;	147	MIF4G.				regulation of translation|RNA metabolic process	cytoplasm|nucleus	protein C-terminus binding			ovary(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)			GCCACCCACCTCCTCCTCCTT	0.612												
LLGL2	3993	broad.mit.edu	37	17	73560538	73560538	+	Missense_Mutation	SNP	C	C	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr17:73560538C>A	uc002joh.2	+	10	1140	c.986C>A	c.(985-987)ACC>AAC	p.T329N	LLGL2_uc002jog.1_Missense_Mutation_p.T329N|LLGL2_uc010dgf.1_Missense_Mutation_p.T329N|LLGL2_uc002joi.2_Missense_Mutation_p.T329N|LLGL2_uc010dgg.1_Missense_Mutation_p.T329N|LLGL2_uc002joj.2_Missense_Mutation_p.T318N|LLGL2_uc010wsd.1_Missense_Mutation_p.P10T|uc002jok.2_5'Flank	NM_001031803	NP_001026973	Q6P1M3	L2GL2_HUMAN	lethal giant larvae homolog 2 isoform c	329					cell cycle|cell division|exocytosis|regulation of establishment or maintenance of cell polarity	cytoplasm|intracellular membrane-bounded organelle	PDZ domain binding			ovary(2)	2	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112)			TTCGACTTCACCTCCCGTGTC	0.632												
FBF1	85302	broad.mit.edu	37	17	73917331	73917331	+	Silent	SNP	G	G	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr17:73917331G>A	uc002jqc.2	-	16	1897	c.1623C>T	c.(1621-1623)CCC>CCT	p.P541P	FBF1_uc002jqa.1_RNA|FBF1_uc010wsp.1_Silent_p.P532P|FBF1_uc002jqd.1_Silent_p.P542P|FBF1_uc002jqb.2_5'Flank|FBF1_uc010dgr.1_5'UTR	NM_001080542	NP_001074011	Q8TES7	FBF1_HUMAN	Fas (TNFRSF6) binding factor 1	541											0						CTACCTGGACGGGCACGGAAG	0.592												
TBC1D16	125058	broad.mit.edu	37	17	77923563	77923563	+	Silent	SNP	C	C	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr17:77923563C>T	uc002jxj.2	-	7	1475	c.1359G>A	c.(1357-1359)GCG>GCA	p.A453A	TBC1D16_uc002jxh.2_Silent_p.A91A|TBC1D16_uc002jxi.2_Silent_p.A78A|TBC1D16_uc002jxk.1_Silent_p.A91A	NM_019020	NP_061893	Q8TBP0	TBC16_HUMAN	TBC1 domain family, member 16	453	Rab-GAP TBC.					intracellular	Rab GTPase activator activity				0	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.00739)|BRCA - Breast invasive adenocarcinoma(99;0.0819)			GCAGCCGCAGCGCCTCCCGCT	0.627												
GAA	2548	broad.mit.edu	37	17	78091485	78091485	+	Silent	SNP	G	G	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr17:78091485G>A	uc002jxo.2	+	18	2600	c.2418G>A	c.(2416-2418)ACG>ACA	p.T806T	GAA_uc002jxp.2_Silent_p.T806T|GAA_uc002jxq.2_Silent_p.T806T	NM_001079803	NP_001073271	P10253	LYAG_HUMAN	acid alpha-glucosidase preproprotein	806					cardiac muscle contraction|diaphragm contraction|glycogen catabolic process|lysosome organization|tongue morphogenesis|vacuolar sequestering|ventricular cardiac muscle tissue morphogenesis	lysosomal membrane	carbohydrate binding|maltose alpha-glucosidase activity			ovary(1)	1	all_neural(118;0.117)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)		Acarbose(DB00284)	AGTGGGTGACGCTGCCGGCCC	0.682												
RNF213	57674	broad.mit.edu	37	17	78318484	78318484	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr17:78318484C>T	uc002jyh.1	+	4	791	c.568C>T	c.(568-570)CGT>TGT	p.R190C		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)			CCAGCGTACACGTGTACCCCA	0.448												
RPTOR	57521	broad.mit.edu	37	17	78727978	78727978	+	Missense_Mutation	SNP	C	C	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr17:78727978C>A	uc002jyt.1	+	6	1628	c.823C>A	c.(823-825)CTG>ATG	p.L275M	RPTOR_uc002jys.2_Missense_Mutation_p.L275M|RPTOR_uc010wuf.1_Missense_Mutation_p.L90M|RPTOR_uc010wug.1_Missense_Mutation_p.L275M	NM_020761	NP_065812	Q8N122	RPTOR_HUMAN	raptor isoform 1	275					cell cycle arrest|cell growth|cellular response to amino acid stimulus|cellular response to nutrient levels|insulin receptor signaling pathway|positive regulation of protein serine/threonine kinase activity|positive regulation of TOR signaling cascade|TOR signaling cascade	cytosol|lysosome|TORC1 complex	protein complex binding			lung(4)|urinary_tract(1)|ovary(1)	6						CAAGATCGCCCTGCGCTGGTG	0.682												
RPTOR	57521	broad.mit.edu	37	17	78897301	78897301	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr17:78897301C>T	uc002jyt.1	+	23	3441	c.2636C>T	c.(2635-2637)CCG>CTG	p.P879L	RPTOR_uc010wug.1_Missense_Mutation_p.P721L	NM_020761	NP_065812	Q8N122	RPTOR_HUMAN	raptor isoform 1	879					cell cycle arrest|cell growth|cellular response to amino acid stimulus|cellular response to nutrient levels|insulin receptor signaling pathway|positive regulation of protein serine/threonine kinase activity|positive regulation of TOR signaling cascade|TOR signaling cascade	cytosol|lysosome|TORC1 complex	protein complex binding			lung(4)|urinary_tract(1)|ovary(1)	6						GGCTCCCCTCCGGCGTCCAGC	0.632												
BAIAP2	10458	broad.mit.edu	37	17	79077412	79077412	+	Silent	SNP	C	C	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr17:79077412C>T	uc002jzg.2	+	8	861	c.753C>T	c.(751-753)GGC>GGT	p.G251G	BAIAP2_uc002jyz.3_Silent_p.G251G|BAIAP2_uc002jza.2_Silent_p.G251G|BAIAP2_uc002jzc.2_Silent_p.G251G|BAIAP2_uc002jzb.2_Silent_p.G8G|BAIAP2_uc002jzd.2_Silent_p.G251G|BAIAP2_uc002jzf.2_Silent_p.G251G|BAIAP2_uc002jze.2_Silent_p.G284G|BAIAP2_uc010wuh.1_Silent_p.G173G|BAIAP2_uc002jzh.2_Silent_p.G252G|BAIAP2_uc010wui.1_Silent_p.G114G	NM_017451	NP_059345	Q9UQB8	BAIP2_HUMAN	BAI1-associated protein 2 isoform 2	251					axonogenesis|filopodium assembly|insulin receptor signaling pathway|regulation of actin cytoskeleton organization|response to bacterium	cell junction|cytoskeleton|cytosol|filopodium|nucleus|ruffle	cytoskeletal adaptor activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding				0	all_neural(118;0.101)		BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)			CCAGCAACGGCGCCACCCTCC	0.706												
C17orf70	80233	broad.mit.edu	37	17	79508363	79508363	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr17:79508363T>C	uc002kaq.2	-	8	2541	c.2486A>G	c.(2485-2487)TAC>TGC	p.Y829C	C17orf70_uc002kao.1_Missense_Mutation_p.Y478C|C17orf70_uc010wuq.1_RNA|C17orf70_uc002kap.2_Missense_Mutation_p.Y678C	NM_001109760	NP_001103230	Q0VG06	FP100_HUMAN	Fanconi anemia core complex 100 kDa subunit	829					DNA repair	cytoplasm|intermediate filament cytoskeleton|nucleoplasm	DNA binding			ovary(1)|skin(1)	2	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0371)			CTGGCGGAGGTACTGCACACG	0.682												
CCDC57	284001	broad.mit.edu	37	17	80141780	80141780	+	Missense_Mutation	SNP	A	A	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr17:80141780A>T	uc002kdz.1	-	9	1436	c.1081T>A	c.(1081-1083)TCT>ACT	p.S361T	CCDC57_uc002kdx.1_Missense_Mutation_p.S361T|CCDC57_uc010dik.1_5'UTR	NM_198082	NP_932348	Q2TAC2	CCD57_HUMAN	coiled-coil domain containing 57	361	Potential.									ovary(2)	2	Breast(20;0.00285)|all_neural(118;0.0878)|all_lung(278;0.0949)|Lung NSC(278;0.128)|Ovarian(332;0.227)		BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0253)			TCCCAGGCAGATTTTACAGTT	0.453												
SMCHD1	23347	broad.mit.edu	37	18	2707836	2707836	+	Silent	SNP	A	A	G			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr18:2707836A>G	uc002klm.3	+	17	2367	c.2178A>G	c.(2176-2178)AAA>AAG	p.K726K	SMCHD1_uc002klk.3_RNA|SMCHD1_uc002kll.3_RNA	NM_015295	NP_056110	A6NHR9	SMHD1_HUMAN	structural maintenance of chromosomes flexible	726					chromosome organization		ATP binding				0						TGAATAAAAAAGGGGAAGCAA	0.343												
SMCHD1	23347	broad.mit.edu	37	18	2752539	2752539	+	Silent	SNP	C	C	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr18:2752539C>T	uc002klm.3	+	34	4524	c.4335C>T	c.(4333-4335)TGC>TGT	p.C1445C	SMCHD1_uc002klk.3_RNA|SMCHD1_uc002kll.3_RNA	NM_015295	NP_056110	A6NHR9	SMHD1_HUMAN	structural maintenance of chromosomes flexible	1445					chromosome organization		ATP binding				0						AAGATGGCTGCTTCTATTTCA	0.348												
TMEM200C	645369	broad.mit.edu	37	18	5890416	5890416	+	Silent	SNP	C	C	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr18:5890416C>T	uc002kmx.1	-	1	1688	c.1647G>A	c.(1645-1647)TCG>TCA	p.S549S		NM_001080209	NP_001073678	A6NKL6	T200C_HUMAN	transmembrane protein 200C	549						integral to membrane					0						CGTCCAAGACCGACTCGGTGG	0.687												
LAMA1	284217	broad.mit.edu	37	18	7050823	7050823	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr18:7050823G>A	uc002knm.2	-	4	552	c.458C>T	c.(457-459)GCA>GTA	p.A153V	LAMA1_uc010wzj.1_5'UTR	NM_005559	NP_005550	P25391	LAMA1_HUMAN	laminin, alpha 1 precursor	153	Laminin N-terminal.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			ovary(8)|large_intestine(4)|upper_aerodigestive_tract(2)|breast(2)|skin(2)|pancreas(2)|central_nervous_system(1)	21		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GTCGCTGACTGCATAATACTG	0.498												
RALBP1	10928	broad.mit.edu	37	18	9535730	9535730	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr18:9535730G>A	uc002kob.2	+	10	1986	c.1763G>A	c.(1762-1764)CGC>CAC	p.R588H	RALBP1_uc002koc.2_Missense_Mutation_p.R588H	NM_006788	NP_006779	Q15311	RBP1_HUMAN	ralA binding protein 1	588					chemotaxis|positive regulation of Cdc42 GTPase activity|small GTPase mediated signal transduction|transport	cytosol|membrane	ATPase activity, coupled to movement of substances|Rac GTPase activator activity|Rac GTPase binding|Ral GTPase binding			central_nervous_system(1)	1						ATCGAGCTGCGCGTGCAGCTG	0.592												
FAM38B	63895	broad.mit.edu	37	18	10671626	10671626	+	Silent	SNP	C	C	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr18:10671626C>T	uc002kor.3	-	14	2168	c.2028G>A	c.(2026-2028)GAG>GAA	p.E676E	FAM38B_uc002koq.2_Silent_p.E511E	NM_022068	NP_071351	Q9H5I5	PIEZ2_HUMAN	family with sequence similarity 38, member B	2719						integral to membrane	ion channel activity			ovary(1)	1						GTTCTCCTGTCTCTCGAACTA	0.368												
PTPN2	5771	broad.mit.edu	37	18	12802072	12802072	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr18:12802072A>G	uc002krp.2	-	8	1131	c.937T>C	c.(937-939)TAC>CAC	p.Y313H	PTPN2_uc002krl.2_Missense_Mutation_p.Y313H|PTPN2_uc002krn.2_Missense_Mutation_p.Y336H|PTPN2_uc002kro.2_Missense_Mutation_p.Y313H|PTPN2_uc002krm.2_Missense_Mutation_p.Y313H	NM_002828	NP_002819	P17706	PTN2_HUMAN	protein tyrosine phosphatase, non-receptor type	313					interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway	endoplasmic reticulum|nucleoplasm	protein binding			skin(2)	2		Lung NSC(161;8.94e-06)				TTCCCATTGTATTTTTCAGTC	0.378												
ROCK1	6093	broad.mit.edu	37	18	18622646	18622646	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr18:18622646C>T	uc002kte.2	-	7	1641	c.700G>A	c.(700-702)GCG>ACG	p.A234T		NM_005406	NP_005397	Q13464	ROCK1_HUMAN	Rho-associated, coiled-coil containing protein	234	Protein kinase.				actin cytoskeleton organization|axon guidance|cellular component disassembly involved in apoptosis|cytokinesis|leukocyte tethering or rolling|membrane to membrane docking|Rho protein signal transduction	centriole|cytosol|Golgi membrane	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity			lung(2)|breast(2)|central_nervous_system(1)	5	Melanoma(1;0.165)					GTTCCAACCGCTGTATCACAT	0.373												
SNRPD1	6632	broad.mit.edu	37	18	19209067	19209067	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr18:19209067C>T	uc002ktj.1	+	4	459	c.328C>T	c.(328-330)CGT>TGT	p.R110C		NM_006938	NP_008869	P62314	SMD1_HUMAN	small nuclear ribonucleoprotein D1 polypeptide	110	Arg/Lys-rich (basic).				ncRNA metabolic process|spliceosomal snRNP assembly|spliceosome assembly	catalytic step 2 spliceosome|cytosol|nucleoplasm|small nuclear ribonucleoprotein complex|U12-type spliceosomal complex	protein binding|RNA binding				0						aggacgtggccgtggcagagg	0.249												
CTAGE1	64693	broad.mit.edu	37	18	19997258	19997258	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr18:19997258G>A	uc002ktv.1	-	1	621	c.517C>T	c.(517-519)CGG>TGG	p.R173W		NM_172241	NP_758441	Q96RT6	CTGE2_HUMAN	cutaneous T-cell lymphoma-associated antigen 1	173	Potential.					integral to membrane				ovary(1)	1	all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135)					ATCTCCAACCGTTCTTCATTC	0.388												
RBBP8	5932	broad.mit.edu	37	18	20573099	20573099	+	Missense_Mutation	SNP	C	C	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr18:20573099C>A	uc002ktw.2	+	11	1640	c.1309C>A	c.(1309-1311)CTG>ATG	p.L437M	RBBP8_uc002kty.2_Missense_Mutation_p.L437M|RBBP8_uc002ktz.2_Missense_Mutation_p.L437M|RBBP8_uc002kua.2_Missense_Mutation_p.L437M|RBBP8_uc002ktx.1_Missense_Mutation_p.L437M	NM_002894	NP_002885	Q99708	COM1_HUMAN	retinoblastoma binding protein 8 isoform a	437					cell cycle checkpoint|DNA double-strand break processing involved in repair via single-strand annealing|meiosis|regulation of transcription from RNA polymerase II promoter	nucleus	damaged DNA binding|protein binding|single-stranded DNA specific endodeoxyribonuclease activity			ovary(1)|lung(1)|skin(1)	3	all_cancers(21;4.34e-05)|all_epithelial(16;8.3e-07)|Lung NSC(20;0.0107)|Colorectal(14;0.0202)|all_lung(20;0.0291)|Ovarian(20;0.19)		OV - Ovarian serous cystadenocarcinoma(1;0.00196)			TTTGGAGCCCCTGAAATCATT	0.373								Direct_reversal_of_damage|Homologous_recombination				
NPC1	4864	broad.mit.edu	37	18	21114443	21114443	+	Silent	SNP	G	G	A	rs141659629	byFrequency	TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr18:21114443G>A	uc002kum.3	-	23	3832	c.3558C>T	c.(3556-3558)CGC>CGT	p.R1186R	NPC1_uc010dlu.1_5'Flank|NPC1_uc010xaz.1_Silent_p.R919R	NM_000271	NP_000262	O15118	NPC1_HUMAN	Niemann-Pick disease, type C1 precursor	1186			R -> H (in NPC1).		autophagy|bile acid metabolic process|cholesterol efflux|cholesterol homeostasis|lysosomal transport	endoplasmic reticulum|integral to plasma membrane|late endosome membrane|lysosomal membrane|nuclear envelope|perinuclear region of cytoplasm	hedgehog receptor activity|protein binding|sterol transporter activity			ovary(2)	2	all_cancers(21;0.000106)|all_epithelial(16;6.57e-07)|Lung NSC(20;0.00166)|all_lung(20;0.00536)|Colorectal(14;0.0202)|Ovarian(20;0.127)					CCTCTTCCGCGCGCTCCACGC	0.582												
ZNF521	25925	broad.mit.edu	37	18	22804544	22804544	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr18:22804544G>A	uc002kvk.2	-	4	3585	c.3338C>T	c.(3337-3339)ACG>ATG	p.T1113M	ZNF521_uc010xbe.1_RNA|ZNF521_uc010dly.2_Missense_Mutation_p.T1113M|ZNF521_uc002kvl.2_Missense_Mutation_p.T893M	NM_015461	NP_056276	Q96K83	ZN521_HUMAN	zinc finger protein 521	1113					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding			ovary(4)|large_intestine(2)|lung(1)	7	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					TGGTCTATTCGTGCCGGGAGG	0.552			T	PAX5	ALL							
CDH2	1000	broad.mit.edu	37	18	25568495	25568495	+	Silent	SNP	A	A	G			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr18:25568495A>G	uc002kwg.2	-	11	2193	c.1734T>C	c.(1732-1734)TCT>TCC	p.S578S	CDH2_uc010xbn.1_Silent_p.S547S	NM_001792	NP_001783	P19022	CADH2_HUMAN	cadherin 2, type 1 preproprotein	578	Extracellular (Potential).|Cadherin 4.				adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation	catenin complex|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding			ovary(3)|lung(1)	4						TACCATTGTCAGAAGCAAGGA	0.338												
ELP2	55250	broad.mit.edu	37	18	33713227	33713227	+	Silent	SNP	T	T	C			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr18:33713227T>C	uc002kzk.1	+	2	175	c.165T>C	c.(163-165)AAT>AAC	p.N55N	ELP2_uc010xcg.1_Silent_p.N55N|ELP2_uc002kzl.1_RNA|ELP2_uc002kzm.1_Silent_p.N55N|ELP2_uc010xch.1_Silent_p.N55N|ELP2_uc002kzn.1_Silent_p.N55N|ELP2_uc002kzo.1_Silent_p.N55N	NM_018255	NP_060725	Q6IA86	ELP2_HUMAN	elongator protein 2	55					regulation of transcription from RNA polymerase II promoter	Golgi apparatus|transcription elongation factor complex				breast(2)|ovary(1)|skin(1)	4						CCAACTTGAATGGTCACACCG	0.318												
FHOD3	80206	broad.mit.edu	37	18	34298520	34298520	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr18:34298520C>T	uc002kzt.1	+	15	2780	c.2683C>T	c.(2683-2685)CGT>TGT	p.R895C	FHOD3_uc002kzs.1_Missense_Mutation_p.R912C|FHOD3_uc010dmz.1_Missense_Mutation_p.R627C|FHOD3_uc010dna.1_Missense_Mutation_p.R215C	NM_025135	NP_079411	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3	895	FH2.				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			skin(3)|large_intestine(2)|breast(2)|ovary(1)	8		all_epithelial(2;0.0181)|Colorectal(2;0.0195)				GAAGACCATCCGTTTGTTCTG	0.502												
SETBP1	26040	broad.mit.edu	37	18	42533097	42533097	+	Silent	SNP	T	T	G			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr18:42533097T>G	uc010dni.2	+	4	4088	c.3792T>G	c.(3790-3792)TCT>TCG	p.S1264S		NM_015559	NP_056374	Q9Y6X0	SETBP_HUMAN	SET binding protein 1 isoform a	1264						nucleus	DNA binding			upper_aerodigestive_tract(2)|large_intestine(1)	3				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		AAAGATACTCTGGCAGTGGCG	0.532									Schinzel-Giedion_syndrome			
MYO5B	4645	broad.mit.edu	37	18	47479669	47479669	+	Silent	SNP	C	C	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr18:47479669C>A	uc002leb.2	-	14	2001	c.1713G>T	c.(1711-1713)ACG>ACT	p.T571T	MYO5B_uc002lec.1_Silent_p.T570T	NM_001080467	NP_001073936	Q9ULV0	MYO5B_HUMAN	myosin VB	571	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)		CTTCATACACCGTGTCTCTGT	0.522												
FECH	2235	broad.mit.edu	37	18	55240556	55240556	+	Missense_Mutation	SNP	G	G	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr18:55240556G>T	uc002lgq.3	-	3	353	c.236C>A	c.(235-237)CCT>CAT	p.P79H	FECH_uc002lgp.3_Missense_Mutation_p.P85H|FECH_uc002lgr.3_Translation_Start_Site	NM_000140	NP_000131	P22830	HEMH_HUMAN	ferrochelatase isoform b precursor	79					generation of precursor metabolites and energy|heme biosynthetic process|protoporphyrinogen IX metabolic process|response to light stimulus	mitochondrial inner membrane|mitochondrial matrix	2 iron, 2 sulfur cluster binding|ferrochelatase activity|ferrous iron binding|protein binding			central_nervous_system(1)	1		Colorectal(73;0.227)				AAGAGTTTCAGGGCCTCCCAT	0.398												
ZNF532	55205	broad.mit.edu	37	18	56586342	56586342	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr18:56586342G>A	uc002lho.2	+	4	1370	c.823G>A	c.(823-825)GCG>ACG	p.A275T	ZNF532_uc002lhp.2_Missense_Mutation_p.A273T|ZNF532_uc010xeg.1_Missense_Mutation_p.A273T|ZNF532_uc002lhr.2_Missense_Mutation_p.A273T|ZNF532_uc002lhs.2_Missense_Mutation_p.A273T	NM_018181	NP_060651	Q9HCE3	ZN532_HUMAN	zinc finger protein 532	275					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|skin(1)	2						CGCTGCCATCGCGGCTCTCAG	0.552												
CDH20	28316	broad.mit.edu	37	18	59195263	59195263	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr18:59195263G>T	uc010dps.1	+	6	1093	c.1081G>T	c.(1081-1083)GAG>TAG	p.E361*	CDH20_uc002lif.2_Nonsense_Mutation_p.E355*	NM_031891	NP_114097	Q9HBT6	CAD20_HUMAN	cadherin 20, type 2 preproprotein	361	Extracellular (Potential).|Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|ovary(1)|pancreas(1)	5		Colorectal(73;0.186)				TCCTCACCTAGAGATGCGTTT	0.478												
CDH19	28513	broad.mit.edu	37	18	64202234	64202234	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr18:64202234G>A	uc002lkc.1	-	8	1463	c.1325C>T	c.(1324-1326)GCC>GTC	p.A442V	CDH19_uc010dql.1_RNA|CDH19_uc010xey.1_Missense_Mutation_p.A442V|CDH19_uc002lkd.2_Missense_Mutation_p.A442V	NM_021153	NP_066976	Q9H159	CAD19_HUMAN	cadherin 19, type 2 preproprotein	442	Cadherin 4.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(1)|skin(1)	2		Esophageal squamous(42;0.0132)				TTTTTCTGTGGCTGTAATACT	0.333												
TSHZ1	10194	broad.mit.edu	37	18	72999092	72999092	+	Missense_Mutation	SNP	C	C	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr18:72999092C>A	uc002lly.2	+	2	2158	c.1595C>A	c.(1594-1596)CCC>CAC	p.P532H		NM_005786	NP_005777	Q6ZSZ6	TSH1_HUMAN	teashirt family zinc finger 1	577						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)		GGTGGCTACCCCAGCATCCAT	0.642												
SALL3	27164	broad.mit.edu	37	18	76752144	76752144	+	Silent	SNP	C	C	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr18:76752144C>T	uc002lmt.2	+	2	153	c.153C>T	c.(151-153)AGC>AGT	p.S51S	SALL3_uc010dra.2_5'Flank	NM_171999	NP_741996	Q9BXA9	SALL3_HUMAN	sal-like 3	51					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)|large_intestine(1)|central_nervous_system(1)	4		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		AGGAGACCAGCGTGTGCGAGA	0.687												
NFATC1	4772	broad.mit.edu	37	18	77171052	77171052	+	Silent	SNP	C	C	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr18:77171052C>T	uc010xfg.1	+	2	1230	c.777C>T	c.(775-777)CCC>CCT	p.P259P	NFATC1_uc002lnc.1_Silent_p.P259P|NFATC1_uc010xff.1_Silent_p.P259P|NFATC1_uc002lnd.2_Silent_p.P259P|NFATC1_uc002lne.2_Intron|NFATC1_uc010xfh.1_Silent_p.P259P|NFATC1_uc010xfi.1_Silent_p.P246P|NFATC1_uc010xfj.1_Intron|NFATC1_uc002lnf.2_Silent_p.P246P|NFATC1_uc002lng.2_Silent_p.P246P|NFATC1_uc010xfk.1_Silent_p.P246P	NM_006162	NP_006153	O95644	NFAC1_HUMAN	nuclear factor of activated T-cells, cytosolic	259	3 X SP repeats.				intracellular signal transduction|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	FK506 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			large_intestine(1)|ovary(1)	2		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257)		CCTCCAGACCCGCGTCCCCTT	0.731												
FSTL3	10272	broad.mit.edu	37	19	681492	681492	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr19:681492G>A	uc002lpk.1	+	4	700	c.665G>A	c.(664-666)TGC>TAC	p.C222Y	FSTL3_uc010drt.1_RNA	NM_005860	NP_005851	O95633	FSTL3_HUMAN	follistatin-like 3 glycoprotein precursor	222	Kazal-like 2.				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)		ATCTCCTCGTGCCACATGCGC	0.711			T	CCND1	B-CLL							
ZNF554	115196	broad.mit.edu	37	19	2832394	2832394	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr19:2832394C>T	uc002lwm.2	+	4	545	c.347C>T	c.(346-348)ACG>ATG	p.T116M	ZNF554_uc002lwl.2_Missense_Mutation_p.T65M	NM_001102651	NP_001096121	Q86TJ5	ZN554_HUMAN	zinc finger protein 554	116	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		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)		TCCTCATGGACGGGGTATTTA	0.468												
S1PR4	8698	broad.mit.edu	37	19	3179131	3179131	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr19:3179131C>T	uc002lxg.2	+	1	366	c.341C>T	c.(340-342)GCG>GTG	p.A114V		NM_003775	NP_003766	O95977	S1PR4_HUMAN	sphingosine-1-phosphate receptor 4 precursor	114	Extracellular (By similarity).				activation of phospholipase C activity|elevation of cytosolic calcium ion concentration|immune response	integral to plasma membrane	lipid binding|lysosphingolipid and lysophosphatidic acid receptor activity			lung(1)|skin(1)	2						TTCCGTCTGGCGCCCGCCCAG	0.667												
NFIC	4782	broad.mit.edu	37	19	3382065	3382065	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr19:3382065G>A	uc010xhi.1	+	2	448	c.386G>A	c.(385-387)CGG>CAG	p.R129Q	NFIC_uc002lxo.2_Missense_Mutation_p.R120Q|NFIC_uc010xhh.1_Missense_Mutation_p.R120Q|NFIC_uc002lxp.2_Missense_Mutation_p.R129Q|NFIC_uc010xhj.1_Missense_Mutation_p.R129Q|NFIC_uc002lxq.1_Missense_Mutation_p.R81Q	NM_205843	NP_995315	P08651	NFIC_HUMAN	nuclear factor I/C isoform 2	129	CTF/NF-I.				DNA replication|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity				0		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;7.8e-05)|Epithelial(107;2.94e-108)|BRCA - Breast invasive adenocarcinoma(158;0.00154)|STAD - Stomach adenocarcinoma(1328;0.191)		AAGGTGTGGCGGCTGGACCTG	0.672												
PLIN4	729359	broad.mit.edu	37	19	4510529	4510529	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr19:4510529C>T	uc002mar.1	-	3	3401	c.3401G>A	c.(3400-3402)CGC>CAC	p.R1134H	PLIN4_uc010dub.1_Missense_Mutation_p.R158H	NM_001080400	NP_001073869	Q96Q06	PLIN4_HUMAN	plasma membrane associated protein, S3-12	1134						lipid particle|plasma membrane					0						CATTGCCAAGCGTGGGGCTTC	0.657												
KDM4B	23030	broad.mit.edu	37	19	5110659	5110659	+	Silent	SNP	G	G	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr19:5110659G>A	uc002mbq.3	+	10	1171	c.945G>A	c.(943-945)AAG>AAA	p.K315K	KDM4B_uc010xil.1_Silent_p.K315K|KDM4B_uc010xim.1_Silent_p.K315K|KDM4B_uc002mbr.3_Silent_p.K73K	NM_015015	NP_055830	O94953	KDM4B_HUMAN	jumonji domain containing 2B	315					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			lung(1)	1						ACATGGTCAAGATCTCCATGG	0.672												
PTPRS	5802	broad.mit.edu	37	19	5212258	5212258	+	Silent	SNP	G	G	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr19:5212258G>A	uc002mbv.2	-	32	5007	c.4773C>T	c.(4771-4773)GCC>GCT	p.A1591A	PTPRS_uc002mbu.1_Silent_p.A1160A|PTPRS_uc010xin.1_Silent_p.A1133A|PTPRS_uc002mbw.2_Silent_p.A1553A|PTPRS_uc002mbx.2_Silent_p.A1148A|PTPRS_uc002mby.2_Silent_p.A1144A	NM_002850	NP_002841	Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type,	1591	Substrate binding (By similarity).|Cytoplasmic (Potential).|Tyrosine-protein phosphatase 1.				cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			large_intestine(2)|ovary(1)|central_nervous_system(1)	4				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)		GGCCCACACCGGCACTGCAGG	0.637												
ZNRF4	148066	broad.mit.edu	37	19	5456550	5456550	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr19:5456550G>A	uc002mca.3	+	1	1125	c.1048G>A	c.(1048-1050)GTG>ATG	p.V350M		NM_181710	NP_859061	Q8WWF5	ZNRF4_HUMAN	zinc and ring finger 4 precursor	350	RING-type; atypical.|Cytoplasmic (Potential).					integral to membrane	zinc ion binding	p.V350M(1)		large_intestine(2)	2				UCEC - Uterine corpus endometrioid carcinoma (162;0.0002)		CTCCTGCCCCGTGTGCAAACA	0.642												
ALKBH7	84266	broad.mit.edu	37	19	6374236	6374236	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr19:6374236C>T	uc002meo.1	+	2	615	c.227C>T	c.(226-228)ACA>ATA	p.T76I		NM_032306	NP_115682	Q9BT30	ALKB7_HUMAN	spermatogenesis associated 11 precursor	76						extracellular region|nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen				0						TTCCGAGAGACAGAGAAGTCG	0.657												
C3	718	broad.mit.edu	37	19	6718271	6718271	+	Silent	SNP	G	G	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr19:6718271G>A	uc002mfm.2	-	3	482	c.420C>T	c.(418-420)ACC>ACT	p.T140T		NM_000064	NP_000055	P01024	CO3_HUMAN	complement component 3 precursor	140					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)		TGGAGCCAGGGGTGTAGATGG	0.657												
INSR	3643	broad.mit.edu	37	19	7120730	7120730	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr19:7120730G>A	uc002mgd.1	-	20	3669	c.3560C>T	c.(3559-3561)ACG>ATG	p.T1187M	INSR_uc002mge.1_Missense_Mutation_p.T1175M	NM_000208	NP_000199	P06213	INSR_HUMAN	insulin receptor isoform Long precursor	1187	Protein kinase.|Cytoplasmic (Potential).				activation of MAPK activity|activation of protein kinase B activity|carbohydrate metabolic process|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|glucose homeostasis|heart morphogenesis|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of developmental growth|positive regulation of DNA replication|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein phosphorylation|positive regulation of respiratory burst|protein autophosphorylation|protein heterotetramerization|regulation of embryonic development|regulation of transcription, DNA-dependent|transformation of host cell by virus	caveola|endosome membrane|insulin receptor complex|microsome	ATP binding|GTP binding|insulin binding|insulin receptor activity|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor II binding|insulin-like growth factor receptor binding|metal ion binding|phosphatidylinositol 3-kinase binding|PTB domain binding|receptor signaling protein tyrosine kinase activity|SH2 domain binding			ovary(4)|lung(3)|central_nervous_system(2)|large_intestine(1)|stomach(1)|skin(1)	12					Insulin Glargine recombinant(DB00047)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	GTAGTAATCCGTTTCATAGAT	0.527												
ELAVL1	1994	broad.mit.edu	37	19	8028545	8028545	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr19:8028545C>T	uc002mjb.2	-	6	970	c.803G>A	c.(802-804)GGT>GAT	p.G268D		NM_001419	NP_001410	Q15717	ELAV1_HUMAN	ELAV-like 1	268	RRM 3.				3'-UTR-mediated mRNA stabilization|multicellular organismal development	cytoplasm|nucleoplasm	identical protein binding|mRNA binding|nucleotide binding				0						GGTGACGGCACCAAACGGCCC	0.547												
FBN3	84467	broad.mit.edu	37	19	8182094	8182094	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr19:8182094C>T	uc002mjf.2	-	27	3566	c.3545G>A	c.(3544-3546)GGG>GAG	p.G1182E		NM_032447	NP_115823	Q75N90	FBN3_HUMAN	fibrillin 3 precursor	1182	EGF-like 16; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			ovary(6)|skin(3)|pancreas(1)|central_nervous_system(1)	11						GTAGCCCTGCCCACAGCTGCA	0.602												
ACTL9	284382	broad.mit.edu	37	19	8808202	8808202	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr19:8808202C>T	uc002mkl.2	-	1	971	c.850G>A	c.(850-852)GAT>AAT	p.D284N		NM_178525	NP_848620	Q8TC94	ACTL9_HUMAN	actin-like 9	284						cytoplasm|cytoskeleton				large_intestine(2)|pancreas(1)	3						GTGCGCCCATCGGGCAGCTTC	0.637												
MUC16	94025	broad.mit.edu	37	19	9049116	9049116	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr19:9049116T>C	uc002mkp.2	-	5	32719	c.32515A>G	c.(32515-32517)ACT>GCT	p.T10839A		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	10841	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						AAAATGGAAGTTGTCCAGGGA	0.473												
ANGPTL6	83854	broad.mit.edu	37	19	10204415	10204415	+	Missense_Mutation	SNP	C	C	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr19:10204415C>A	uc002mmx.1	-	4	1023	c.905G>T	c.(904-906)AGG>ATG	p.R302M	ANGPTL6_uc002mmy.1_Missense_Mutation_p.R302M	NM_031917	NP_114123	Q8NI99	ANGL6_HUMAN	angiopoietin-like 6 precursor	302	Fibrinogen C-terminal.				angiogenesis|cell differentiation|signal transduction	extracellular space	receptor binding				0			OV - Ovarian serous cystadenocarcinoma(20;3.58e-08)|Epithelial(33;2.5e-05)|all cancers(31;5.96e-05)			ACCATCTTGCCTCCGCTGGAT	0.572												
PPAN-P2RY11	692312	broad.mit.edu	37	19	10218766	10218766	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr19:10218766G>A	uc002mna.2	+	5	469	c.469G>A	c.(469-471)GCC>ACC	p.A157T	PPAN-P2RY11_uc010xla.1_Missense_Mutation_p.A157T|PPAN_uc002mmz.1_Missense_Mutation_p.A157T|PPAN_uc002mnb.1_Missense_Mutation_p.A104T|SNORD105B_uc010dwz.1_5'Flank	NM_001040664	NP_001035754	Q9NQ55	SSF1_HUMAN	PPAN-P2RY11 protein	157	Brix.				RNA splicing	nucleolus	protein binding			ovary(2)	2			OV - Ovarian serous cystadenocarcinoma(20;2.19e-08)|Epithelial(33;1.76e-05)|all cancers(31;3.54e-05)			GAAGCTCATGGCCACCATGTT	0.622												
S1PR2	9294	broad.mit.edu	37	19	10335348	10335348	+	Silent	SNP	G	G	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr19:10335348G>A	uc002mnl.2	-	2	345	c.234C>T	c.(232-234)TCC>TCT	p.S78S		NM_004230	NP_004221	O95136	S1PR2_HUMAN	endothelial differentiation, sphingolipid	78	Helical; Name=2; (By similarity).				activation of MAPK activity|positive regulation of cell proliferation	integral to membrane|plasma membrane	lipid binding|lysosphingolipid and lysophosphatidic acid receptor activity			lung(1)|central_nervous_system(1)	2						CCAGTAGATCGGAGGCGGCCA	0.602												
KEAP1	9817	broad.mit.edu	37	19	10602646	10602646	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr19:10602646T>C	uc002moq.1	-	3	1088	c.932A>G	c.(931-933)CAC>CGC	p.H311R	KEAP1_uc002mop.1_Missense_Mutation_p.H29R|KEAP1_uc002mor.1_Missense_Mutation_p.H311R	NM_012289	NP_036421	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	311					regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|midbody|nucleus	protein binding			lung(12)|breast(3)|ovary(1)|pancreas(1)	17			OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)			CGTGGGCTTGTGCAGGGTGAG	0.637												
KANK2	25959	broad.mit.edu	37	19	11304273	11304273	+	Silent	SNP	G	G	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr19:11304273G>A	uc010dxv.2	-	6	1041	c.483C>T	c.(481-483)GGC>GGT	p.G161G	KANK2_uc002mqm.2_Silent_p.G161G|KANK2_uc002mqo.3_Silent_p.G161G|KANK2_uc002mqp.1_5'UTR|KANK2_uc002mqq.2_Silent_p.G161G	NM_015493	NP_056308	Q63ZY3	KANK2_HUMAN	ankyrin repeat domain 25 isoform 1	161											0						GCAACCCCACGCCCACCAGGG	0.731												
MAN2B1	4125	broad.mit.edu	37	19	12776529	12776529	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr19:12776529A>G	uc002mub.2	-	2	326	c.250T>C	c.(250-252)TAC>CAC	p.Y84H	MAN2B1_uc010dyv.1_Missense_Mutation_p.Y84H|WDR83_uc002mue.3_5'Flank|WDR83_uc002muc.2_5'Flank	NM_000528	NP_000519	O00754	MA2B1_HUMAN	mannosidase, alpha, class 2B, member 1	84					protein deglycosylation	lysosome	alpha-mannosidase activity|zinc ion binding			ovary(4)|central_nervous_system(2)	6						CCATAAAAGTACTGGTCCACG	0.577												
TNPO2	30000	broad.mit.edu	37	19	12812476	12812476	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr19:12812476A>G	uc002muo.2	-	23	2707	c.2522T>C	c.(2521-2523)TTC>TCC	p.F841S	TNPO2_uc002mup.2_Missense_Mutation_p.F923S|TNPO2_uc002muq.2_Missense_Mutation_p.F831S|TNPO2_uc002mur.2_Missense_Mutation_p.F831S	NM_001136196	NP_001129668	O14787	TNPO2_HUMAN	transportin 2 (importin 3, karyopherin beta 2b)	841				F -> L (in Ref. 2; AAB71349).	intracellular protein transport	cytoplasm|nucleus	nuclear localization sequence binding|protein binding|protein transporter activity			ovary(1)	1						ATCGCAGAAGAAAATAAAGTC	0.612												
AKAP8	10270	broad.mit.edu	37	19	15483890	15483890	+	Silent	SNP	C	C	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr19:15483890C>T	uc002nav.2	-	5	694	c.633G>A	c.(631-633)GTG>GTA	p.V211V	AKAP8_uc010dzy.2_5'UTR|AKAP8_uc010dzz.1_RNA|AKAP8_uc010xog.1_Silent_p.V25V	NM_005858	NP_005849	O43823	AKAP8_HUMAN	A-kinase anchor protein 8	211					signal transduction	nuclear matrix				ovary(1)|breast(1)	2						CAGCGGGGGGCACGAAGGGGT	0.726												
CYP4F22	126410	broad.mit.edu	37	19	15636311	15636311	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr19:15636311G>A	uc002nbh.3	+	3	331	c.164G>A	c.(163-165)CGG>CAG	p.R55Q		NM_173483	NP_775754	Q6NT55	CP4FN_HUMAN	cytochrome P450, family 4, subfamily F,	55						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						ACCTGCCGCCGGCTGCGCTGC	0.537												
CYP4F22	126410	broad.mit.edu	37	19	15648384	15648384	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr19:15648384C>T	uc002nbh.3	+	6	627	c.460C>T	c.(460-462)CGG>TGG	p.R154W		NM_173483	NP_775754	Q6NT55	CP4FN_HUMAN	cytochrome P450, family 4, subfamily F,	154						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						CAAGTGGAGCCGGCACCGTCG	0.547												
C19orf44	84167	broad.mit.edu	37	19	16612361	16612361	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr19:16612361C>T	uc002neh.1	+	2	831	c.758C>T	c.(757-759)TCG>TTG	p.S253L	MED26_uc002nee.2_Intron|C19orf44_uc002nef.1_Missense_Mutation_p.S253L|C19orf44_uc002neg.2_Missense_Mutation_p.S253L|C19orf44_uc010eai.1_RNA	NM_032207	NP_115583	Q9H6X5	CS044_HUMAN	hypothetical protein LOC84167	253											0						AAACTATTTTCGGTGAGAttt	0.229												
ANKLE1	126549	broad.mit.edu	37	19	17396566	17396566	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr19:17396566G>A	uc002nga.2	+	8	1889	c.1613G>A	c.(1612-1614)TGC>TAC	p.C538Y	ANKLE1_uc010xpm.1_RNA|ANKLE1_uc010eao.1_Missense_Mutation_p.C534Y|ANKLE1_uc010xpn.1_Intron|ANKLE1_uc002nfy.2_Missense_Mutation_p.C501Y|ANKLE1_uc002nfz.2_Missense_Mutation_p.C244Y	NM_152363	NP_689576	Q8NAG6	ANKL1_HUMAN	ankyrin repeat domain 41	538						nuclear envelope					0						TCCCTACATTGCTTCCAGCAC	0.577												
ARRDC2	27106	broad.mit.edu	37	19	18120452	18120452	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr19:18120452C>T	uc002nhv.2	+	4	684	c.541C>T	c.(541-543)CGT>TGT	p.R181C	ARRDC2_uc002nhu.2_Missense_Mutation_p.R176C	NM_015683	NP_056498	Q8TBH0	ARRD2_HUMAN	arrestin domain containing 2 isoform 1	181										pancreas(1)	1						GTACTGTAACCGTGGCCTAGT	0.602												
ARRDC2	27106	broad.mit.edu	37	19	18121027	18121027	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr19:18121027C>T	uc002nhv.2	+	6	1015	c.872C>T	c.(871-873)ACG>ATG	p.T291M	ARRDC2_uc002nhu.2_Missense_Mutation_p.T286M	NM_015683	NP_056498	Q8TBH0	ARRD2_HUMAN	arrestin domain containing 2 isoform 1	291										pancreas(1)	1						ATCCCAGGAACGTCCAAGCTG	0.632												
PIK3R2	5296	broad.mit.edu	37	19	18279572	18279572	+	Silent	SNP	G	G	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr19:18279572G>A	uc002nia.1	+	15	2357	c.1845G>A	c.(1843-1845)CCG>CCA	p.P615P	PIK3R2_uc002nib.1_RNA|PIK3R2_uc010ebi.1_RNA	NM_005027	NP_005018	O00459	P85B_HUMAN	phosphoinositide-3-kinase, regulatory subunit 2	615					fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|negative regulation of anti-apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|T cell costimulation|T cell receptor signaling pathway	phosphatidylinositol 3-kinase complex	GTPase activator activity|phosphatidylinositol 3-kinase regulator activity|protein binding			lung(2)|stomach(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|pancreas(1)	6						ACGATCTCCCGCACCACGAGG	0.667											OREG0025359	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
KIAA1683	80726	broad.mit.edu	37	19	18375881	18375881	+	Silent	SNP	C	C	T	rs149210128		TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr19:18375881C>T	uc002nin.2	-	3	2685	c.2469G>A	c.(2467-2469)CCG>CCA	p.P823P	KIAA1683_uc010ebn.2_Silent_p.P823P|KIAA1683_uc010xqe.1_Silent_p.P777P	NM_025249	NP_079525	Q9H0B3	K1683_HUMAN	KIAA1683 isoform b	823						mitochondrion				ovary(2)	2						CACAGGCTGCCGGGCATGGTC	0.677												
TMEM59L	25789	broad.mit.edu	37	19	18729233	18729233	+	Silent	SNP	C	C	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr19:18729233C>T	uc002njy.3	+	7	918	c.831C>T	c.(829-831)TCC>TCT	p.S277S		NM_012109	NP_036241	Q9UK28	TM59L_HUMAN	brain-specific membrane-anchored protein	277	Helical; (Potential).					Golgi membrane|integral to membrane|membrane fraction				ovary(2)|skin(2)	4						TCTTCCTCTCCGTGCTGGTGA	0.697												
NCAN	1463	broad.mit.edu	37	19	19335242	19335242	+	Missense_Mutation	SNP	G	G	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr19:19335242G>T	uc002nlz.2	+	5	877	c.778G>T	c.(778-780)GGC>TGC	p.G260C	NCAN_uc010ecc.1_5'Flank	NM_004386	NP_004377	O14594	NCAN_HUMAN	chondroitin sulfate proteoglycan 3 precursor	260	Link 2.				axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding			ovary(4)	4			Epithelial(12;0.00544)			GGAGCTGGGGGGTAAGTCTGG	0.592												
TM6SF2	53345	broad.mit.edu	37	19	19375644	19375644	+	Silent	SNP	G	G	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr19:19375644G>A	uc002nmd.1	-	10	1013	c.963C>T	c.(961-963)CGC>CGT	p.R321R	HAPLN4_uc002nmb.2_5'Flank|HAPLN4_uc002nmc.2_Intron	NM_001001524	NP_001001524	Q9BZW4	TM6S2_HUMAN	transmembrane 6 superfamily member 2	321						integral to membrane					0			Epithelial(12;0.0151)			TGAAGGGTGTGCGCAGGTGCA	0.607												
GATAD2A	54815	broad.mit.edu	37	19	19606629	19606629	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr19:19606629T>C	uc010xqt.1	+	6	1003	c.691T>C	c.(691-693)TCC>CCC	p.S231P	GATAD2A_uc010xqu.1_Intron|GATAD2A_uc010xqv.1_Missense_Mutation_p.S250P|GATAD2A_uc010xqw.1_Missense_Mutation_p.S58P	NM_017660	NP_060130	Q86YP4	P66A_HUMAN	GATA zinc finger domain containing 2A	231					DNA methylation|negative regulation of transcription, DNA-dependent	nuclear speck|NuRD complex	protein binding, bridging|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0						GCAGCAGGCGTCCTCGAAGCT	0.642												
ATP13A1	57130	broad.mit.edu	37	19	19767469	19767469	+	Missense_Mutation	SNP	C	C	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr19:19767469C>A	uc002nnh.3	-	7	1111	c.1083G>T	c.(1081-1083)AAG>AAT	p.K361N	ATP13A1_uc002nnf.3_5'Flank|ATP13A1_uc002nng.2_Missense_Mutation_p.K243N	NM_020410	NP_065143	Q9HD20	AT131_HUMAN	ATPase type 13A1	361	Extracellular (Potential).				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			ovary(3)|large_intestine(2)|central_nervous_system(1)	6						CACCAAGTACCTTCATCTGTG	0.647												
ZNF486	90649	broad.mit.edu	37	19	20308172	20308172	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr19:20308172C>T	uc002nou.2	+	4	710	c.653C>T	c.(652-654)GCC>GTC	p.A218V		NM_052852	NP_443084	Q96H40	ZN486_HUMAN	zinc finger protein 486	218	C2H2-type 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						TGTGGCAAAGCCTTCAACCGG	0.378												
ZNF99	7652	broad.mit.edu	37	19	22940245	22940245	+	Silent	SNP	A	A	G			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr19:22940245A>G	uc010xrh.1	-	5	2193	c.2193T>C	c.(2191-2193)TGT>TGC	p.C731C		NM_001080409	NP_001073878			zinc finger protein 99											ovary(1)|skin(1)	2		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				AAGCTTTACCACATTCTTCAC	0.343												
ZNF99	7652	broad.mit.edu	37	19	22941839	22941839	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr19:22941839C>T	uc010xrh.1	-	5	599	c.599G>A	c.(598-600)GGC>GAC	p.G200D		NM_001080409	NP_001073878			zinc finger protein 99											ovary(1)|skin(1)	2		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				AAAAGCTTTGCCACATTCTTC	0.348												
CHST8	64377	broad.mit.edu	37	19	34263463	34263463	+	Missense_Mutation	SNP	T	T	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr19:34263463T>A	uc002nus.3	+	5	1275	c.770T>A	c.(769-771)GTC>GAC	p.V257D	CHST8_uc002nut.3_Missense_Mutation_p.V257D|CHST8_uc002nuu.2_Missense_Mutation_p.V257D	NM_001127895	NP_001121367	Q9H2A9	CHST8_HUMAN	carbohydrate (N-acetylgalactosamine 4-0)	257	Lumenal (Potential).				carbohydrate biosynthetic process|central nervous system development|hormone biosynthetic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi membrane|integral to membrane	N-acetylgalactosamine 4-O-sulfotransferase activity			skin(2)|large_intestine(1)|ovary(1)	4	Esophageal squamous(110;0.162)					ATGCTCTTTGTCCGCGAGCCC	0.612												
KCTD15	79047	broad.mit.edu	37	19	34302308	34302308	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr19:34302308G>A	uc002nuy.3	+	6	812	c.544G>A	c.(544-546)GCA>ACA	p.A182T	KCTD15_uc002nuv.2_Missense_Mutation_p.A182T|KCTD15_uc002nuw.3_Missense_Mutation_p.A182T|KCTD15_uc010xrt.1_Missense_Mutation_p.A182T|KCTD15_uc002nux.3_Missense_Mutation_p.A182T	NM_001129994	NP_001123466	Q96SI1	KCD15_HUMAN	potassium channel tetramerisation domain	182						voltage-gated potassium channel complex	voltage-gated potassium channel activity			pancreas(1)	1	Esophageal squamous(110;0.162)					CGAGCGGATCGCACTCAGCGG	0.697												
KIAA0355	9710	broad.mit.edu	37	19	34843719	34843719	+	Silent	SNP	C	C	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr19:34843719C>T	uc002nvd.3	+	14	3931	c.3072C>T	c.(3070-3072)AAC>AAT	p.N1024N		NM_014686	NP_055501	O15063	K0355_HUMAN	hypothetical protein LOC9710	1024										ovary(1)	1	Esophageal squamous(110;0.162)					CCGCAACCAACGACTGCAGTG	0.652												
NPHS1	4868	broad.mit.edu	37	19	36335025	36335025	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr19:36335025C>T	uc002oby.2	-	16	2192	c.2192G>A	c.(2191-2193)CGG>CAG	p.R731Q		NM_004646	NP_004637	O60500	NPHN_HUMAN	nephrin precursor	731	Extracellular (Potential).				cell adhesion|excretion|muscle organ development	integral to plasma membrane				ovary(4)|skin(1)	5	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CAGCCGCAGCCGCGCTTCCGC	0.642												
WDR62	284403	broad.mit.edu	37	19	36590367	36590367	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr19:36590367C>T	uc002odc.2	+	22	2678	c.2587C>T	c.(2587-2589)CGC>TGC	p.R863C	WDR62_uc002odd.2_Missense_Mutation_p.R863C	NM_173636	NP_775907	O43379	WDR62_HUMAN	WD repeat domain 62 isoform 2	863					cerebral cortex development	nucleus					0	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			GCCCCACGGCCGCTGGGCAGA	0.617												
ZNF829	374899	broad.mit.edu	37	19	37382938	37382938	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr19:37382938C>T	uc002ofa.1	-	6	1117	c.755G>A	c.(754-756)TGC>TAC	p.C252Y	ZNF345_uc002oez.2_Intron	NM_001037232	NP_001032309	Q3KNS6	ZN829_HUMAN	zinc finger protein 829	252	C2H2-type 4.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			AAGGTTTGAGCAATACTTAAA	0.348												
ZNF568	374900	broad.mit.edu	37	19	37441310	37441310	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr19:37441310G>A	uc002ofc.2	+	7	1770	c.1255G>A	c.(1255-1257)GTA>ATA	p.V419I	ZNF568_uc010efg.2_Intron|ZNF568_uc010xtn.1_Intron|ZNF568_uc002ofd.2_Missense_Mutation_p.V343I|ZNF568_uc010efe.2_Missense_Mutation_p.V343I|ZNF568_uc010eff.1_Intron	NM_198539	NP_940941	Q3ZCX4	ZN568_HUMAN	zinc finger protein 568	419	C2H2-type 8.				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)			GAAACCCTATGTATGTAGTGA	0.388												
PSMD8	5714	broad.mit.edu	37	19	38869929	38869929	+	Missense_Mutation	SNP	C	C	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr19:38869929C>A	uc002oii.3	+	4	638	c.586C>A	c.(586-588)CTC>ATC	p.L196I	PSMD8_uc010efx.1_Missense_Mutation_p.L29I	NM_002812	NP_002803	P48556	PSMD8_HUMAN	proteasome 26S non-ATPase subunit 8	196					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|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|viral reproduction	cytoplasm|nucleus|proteasome regulatory particle	protein binding			central_nervous_system(1)	1	all_cancers(60;3.4e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			GGGCCTCAACCTCCTCTTCCT	0.587												
RYR1	6261	broad.mit.edu	37	19	39001390	39001390	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr19:39001390G>A	uc002oit.2	+	60	9221	c.9091G>A	c.(9091-9093)GCC>ACC	p.A3031T	RYR1_uc002oiu.2_Missense_Mutation_p.A3031T|RYR1_uc002oiv.1_5'UTR|RYR1_uc010xuf.1_5'Flank	NM_000540	NP_000531	P21817	RYR1_HUMAN	skeletal muscle ryanodine receptor isoform 1	3031	Cytoplasmic.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1)	12	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	CGGTGGCCACGCCTCTAACAA	0.572												
RYR1	6261	broad.mit.edu	37	19	39018400	39018400	+	Silent	SNP	A	A	G			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr19:39018400A>G	uc002oit.2	+	73	10930	c.10800A>G	c.(10798-10800)TCA>TCG	p.S3600S	RYR1_uc002oiu.2_Silent_p.S3595S|RYR1_uc002oiv.1_Silent_p.S515S|RYR1_uc010xuf.1_Silent_p.S520S	NM_000540	NP_000531	P21817	RYR1_HUMAN	skeletal muscle ryanodine receptor isoform 1	3600					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1)	12	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	AGGAAGTGTCAGCCGTGCTCT	0.667												
RINL	126432	broad.mit.edu	37	19	39361401	39361401	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr19:39361401T>C	uc002ojq.2	-	8	879	c.491A>G	c.(490-492)TAC>TGC	p.Y164C	RINL_uc002ojr.1_5'Flank|RINL_uc010xuo.1_Missense_Mutation_p.Y278C	NM_198445	NP_940847	Q6ZS11	RINL_HUMAN	Ras and Rab interactor-like	164							GTPase activator activity			pancreas(1)	1						AAGGCTTCGGTACTGCCTGGC	0.652												
NFKBIB	4793	broad.mit.edu	37	19	39399455	39399455	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr19:39399455G>A	uc002ojw.2	+	6	1112	c.1054G>A	c.(1054-1056)GAC>AAC	p.D352N	NFKBIB_uc002ojx.2_3'UTR|NFKBIB_uc002ojy.2_3'UTR	NM_002503	NP_002494	Q15653	IKBB_HUMAN	nuclear factor of kappa light polypeptide gene	352					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)			TCTTCCTGACGACCCCCGCCC	0.502												
FCGBP	8857	broad.mit.edu	37	19	40366105	40366105	+	Missense_Mutation	SNP	G	G	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr19:40366105G>T	uc002omp.3	-	30	14137	c.14129C>A	c.(14128-14130)CCT>CAT	p.P4710H		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein precursor	4710						extracellular region	protein binding			ovary(4)|skin(4)|central_nervous_system(1)	9	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			AGCCACTGCAGGACAGAGGCC	0.677												
FCGBP	8857	broad.mit.edu	37	19	40395994	40395994	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr19:40395994C>T	uc002omp.3	-	15	7411	c.7403G>A	c.(7402-7404)CGC>CAC	p.R2468H		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein precursor	2468	VWFD 6.					extracellular region	protein binding			ovary(4)|skin(4)|central_nervous_system(1)	9	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			GAAGTCGAAGCGGCGGCCATC	0.672												
FCGBP	8857	broad.mit.edu	37	19	40421347	40421347	+	Silent	SNP	G	G	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr19:40421347G>T	uc002omp.3	-	5	2582	c.2574C>A	c.(2572-2574)CCC>CCA	p.P858P		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein precursor	858						extracellular region	protein binding			ovary(4)|skin(4)|central_nervous_system(1)	9	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CGAAGCGATCGGGGTAGCAGC	0.687												
POU2F2	5452	broad.mit.edu	37	19	42599459	42599459	+	Silent	SNP	C	C	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr19:42599459C>T	uc002osp.2	-	11	1177	c.1110G>A	c.(1108-1110)CCG>CCA	p.P370P	POU2F2_uc002osn.2_Silent_p.P354P|POU2F2_uc002oso.2_Silent_p.P143P|POU2F2_uc002osq.2_Silent_p.P354P|POU2F2_uc002osr.1_Silent_p.P370P	NM_002698	NP_002689	P09086	PO2F2_HUMAN	POU domain, class 2, transcription factor 2	370					humoral immune response|transcription from RNA polymerase II promoter	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)|skin(1)	2		Prostate(69;0.059)				TGTAGCTGGCCGGCTTCCCTG	0.647												
CD177	57126	broad.mit.edu	37	19	43866334	43866334	+	Silent	SNP	G	G	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr19:43866334G>A	uc002owi.2	+	10	1218	c.1176G>A	c.(1174-1176)GCG>GCA	p.A392A	CD177_uc010eis.2_RNA|CD177_uc002owj.2_RNA	NM_020406	NP_065139	Q8N6Q3	CD177_HUMAN	CD177 molecule precursor	392					blood coagulation|leukocyte migration	anchored to membrane|plasma membrane				central_nervous_system(1)	1		Prostate(69;0.00682)				TCTTCTCTGCGCGTGAGAAGC	0.607												
XRCC1	7515	broad.mit.edu	37	19	44057634	44057634	+	Missense_Mutation	SNP	G	G	A	rs143266865		TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr19:44057634G>A	uc002owt.2	-	6	640	c.520C>T	c.(520-522)CGT>TGT	p.R174C	XRCC1_uc010xwp.1_Missense_Mutation_p.R143C	NM_006297	NP_006288	P18887	XRCC1_HUMAN	X-ray repair cross complementing protein 1	174					base-excision repair|single strand break repair	nucleoplasm	damaged DNA binding|protein binding			ovary(2)|lung(2)|large_intestine(1)|prostate(1)|breast(1)	7		Prostate(69;0.0153)				TCCTTCACACGGAACTGGCCA	0.587								Other_BER_factors				
CADM4	199731	broad.mit.edu	37	19	44130298	44130298	+	Silent	SNP	C	C	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr19:44130298C>T	uc002oxc.1	-	5	691	c.642G>A	c.(640-642)ACG>ACA	p.T214T		NM_145296	NP_660339	Q8NFZ8	CADM4_HUMAN	cell adhesion molecule 4 precursor	214	Extracellular (Potential).|Ig-like C2-type 1.				cell adhesion	integral to membrane					0		Prostate(69;0.0199)				GCACGTACTGCGTCTGCTTGC	0.637												
ZNF227	7770	broad.mit.edu	37	19	44739650	44739650	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr19:44739650A>G	uc002oyu.2	+	6	1272	c.1067A>G	c.(1066-1068)GAA>GGA	p.E356G	ZNF227_uc010xwu.1_Missense_Mutation_p.E305G|ZNF227_uc002oyv.2_Missense_Mutation_p.E356G|ZNF227_uc010xwv.1_Missense_Mutation_p.E305G|ZNF227_uc010xww.1_Missense_Mutation_p.E277G|ZNF227_uc002oyw.2_Missense_Mutation_p.E328G|ZNF227_uc010ejh.2_Missense_Mutation_p.E349G|ZNF235_uc002oyx.1_Intron	NM_182490	NP_872296	Q86WZ6	ZN227_HUMAN	zinc finger protein 227	356	C2H2-type 4.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Prostate(69;0.0435)				AAATGCGAGGAATGTGGTAAA	0.423												
RTN2	6253	broad.mit.edu	37	19	45997462	45997462	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr19:45997462G>A	uc002pcb.2	-	4	1004	c.776C>T	c.(775-777)ACG>ATG	p.T259M	RTN2_uc002pcc.2_Missense_Mutation_p.T259M|RTN2_uc002pcd.2_RNA	NM_005619	NP_005610	O75298	RTN2_HUMAN	reticulon 2 isoform A	259						integral to endoplasmic reticulum membrane	signal transducer activity			ovary(3)	3		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00829)|Epithelial(262;0.184)|GBM - Glioblastoma multiforme(486;0.246)		TAATTGGTCCGTGCTATCGAG	0.537												
OPA3	80207	broad.mit.edu	37	19	46057131	46057131	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr19:46057131T>C	uc002pck.3	-	2	281	c.181A>G	c.(181-183)ATG>GTG	p.M61V	OPA3_uc002pcj.3_Intron|OPA3_uc010xxk.1_Missense_Mutation_p.M8V	NM_025136	NP_079412	Q9H6K4	OPA3_HUMAN	OPA3 protein isoform b	61					response to stimulus|visual perception	mitochondrion					0		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00778)|GBM - Glioblastoma multiforme(486;0.0976)|Epithelial(262;0.242)		CGGAAGCCCATGATGCGCATC	0.667												
FOXA3	3171	broad.mit.edu	37	19	46375340	46375340	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr19:46375340C>T	uc002pdr.2	+	2	274	c.77C>T	c.(76-78)TCG>TTG	p.S26L		NM_004497	NP_004488	P55318	FOXA3_HUMAN	forkhead box A3	26					brain development|cellular glucose homeostasis|cellular response to starvation|chromatin modification|embryo development|endocrine pancreas development|negative regulation of cell proliferation|neural plate anterior/posterior regionalization|neuron fate specification|positive regulation of hepatocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|spermatogenesis	transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific 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|transcription regulatory region DNA binding			breast(1)	1		Ovarian(192;0.0308)|all_neural(266;0.0476)		OV - Ovarian serous cystadenocarcinoma(262;0.00453)|GBM - Glioblastoma multiforme(486;0.0518)|Epithelial(262;0.236)		TAGGTCTACTCGCCGGTGACC	0.617												
ZC3H4	23211	broad.mit.edu	37	19	47572412	47572412	+	Missense_Mutation	SNP	C	C	G			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr19:47572412C>G	uc002pga.3	-	14	2373	c.2335G>C	c.(2335-2337)GAG>CAG	p.E779Q	ZC3H4_uc002pgb.1_Intron	NM_015168	NP_055983	Q9UPT8	ZC3H4_HUMAN	zinc finger CCCH-type containing 4	779	Potential.						nucleic acid binding|zinc ion binding			skin(4)|ovary(2)	6		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)		TCCTCCTCCTCCTGCTGCTTC	0.701												
TMEM143	55260	broad.mit.edu	37	19	48845826	48845826	+	Silent	SNP	C	C	T	rs138171230		TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr19:48845826C>T	uc002pix.1	-	6	945	c.936G>A	c.(934-936)CTG>CTA	p.L312L	TMEM143_uc002piw.1_Intron|TMEM143_uc002piy.1_Silent_p.L277L|TMEM143_uc010xzn.1_Silent_p.L247L|TMEM143_uc010elw.1_Silent_p.L212L|TMEM143_uc010xzo.1_Silent_p.L102L	NM_018273	NP_060743	Q96AN5	TM143_HUMAN	transmembrane protein 143	312	Helical; (Potential).					integral to membrane|mitochondrion					0		all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000149)|all cancers(93;0.000198)|Epithelial(262;0.0151)|GBM - Glioblastoma multiforme(486;0.0157)		CGAAGAGCAGCAGCAGCAGGG	0.667												
SYNGR4	23546	broad.mit.edu	37	19	48879533	48879533	+	Silent	SNP	C	C	T	rs149839356		TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr19:48879533C>T	uc002piz.2	+	5	908	c.663C>T	c.(661-663)ACC>ACT	p.T221T		NM_012451	NP_036583	O95473	SNG4_HUMAN	synaptogyrin 4	221						integral to membrane					0		all_epithelial(76;5.08e-07)|all_lung(116;5.76e-06)|Lung NSC(112;1.18e-05)|Prostate(7;0.0143)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;0.000138)|all cancers(93;0.00017)|Epithelial(262;0.0138)|GBM - Glioblastoma multiforme(486;0.0146)		CCTGTCTGACCGCTCCAAAGT	0.537												
GYS1	2997	broad.mit.edu	37	19	49481210	49481210	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr19:49481210T>C	uc002plp.2	-	10	1520	c.1279A>G	c.(1279-1281)ATG>GTG	p.M427V	GYS1_uc010xzy.1_Missense_Mutation_p.M60V|GYS1_uc010emm.2_Missense_Mutation_p.M363V|GYS1_uc010xzz.1_Missense_Mutation_p.M347V|GYS1_uc010yaa.1_RNA	NM_002103	NP_002094	P13807	GYS1_HUMAN	glycogen synthase 1 (muscle) isoform 1	427					glucose metabolic process|glycogen biosynthetic process	cytosol	glycogen (starch) synthase activity|protein binding			ovary(2)	2		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000164)|all cancers(93;0.000226)|GBM - Glioblastoma multiforme(486;0.00561)|Epithelial(262;0.0286)		CTCTTCATCATAGTGAAGTCT	0.537												
KCNA7	3743	broad.mit.edu	37	19	49575336	49575336	+	Silent	SNP	G	G	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr19:49575336G>A	uc002pmg.2	-	1	863	c.507C>T	c.(505-507)CGC>CGT	p.R169R		NM_031886	NP_114092	Q96RP8	KCNA7_HUMAN	potassium voltage-gated channel, shaker-related	169						voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(1)	1		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_epithelial(76;3.83e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000397)|OV - Ovarian serous cystadenocarcinoma(262;0.000519)|GBM - Glioblastoma multiforme(486;0.00541)|Epithelial(262;0.0441)		CGCGGTCGTCGCGGAAGTCAG	0.711												
ALDH16A1	126133	broad.mit.edu	37	19	49971789	49971789	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr19:49971789C>T	uc002pnt.2	+	15	2206	c.2090C>T	c.(2089-2091)GCG>GTG	p.A697V	ALDH16A1_uc010yar.1_Missense_Mutation_p.A646V|ALDH16A1_uc010yas.1_Missense_Mutation_p.A532V|ALDH16A1_uc010yat.1_Missense_Mutation_p.A534V	NM_153329	NP_699160	Q8IZ83	A16A1_HUMAN	aldehyde dehydrogenase 16 family, member A1	697							oxidoreductase activity|protein binding			skin(1)	1		all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15)		OV - Ovarian serous cystadenocarcinoma(262;0.00156)|GBM - Glioblastoma multiforme(486;0.0251)		GTGCCCAGTGCGGCCTGTCCT	0.667												
AP2A1	160	broad.mit.edu	37	19	50305853	50305853	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr19:50305853C>T	uc002ppn.2	+	16	2388	c.2177C>T	c.(2176-2178)GCT>GTT	p.A726V	AP2A1_uc010enj.1_Intron|AP2A1_uc002ppo.2_Intron|AP2A1_uc002ppp.1_3'UTR|AP2A1_uc010enk.2_5'Flank	NM_014203	NP_055018	O95782	AP2A1_HUMAN	adaptor-related protein complex 2, alpha 1	726					axon guidance|endocytosis|epidermal growth factor receptor signaling pathway|Golgi to endosome transport|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|clathrin coat of trans-Golgi network vesicle|cytosol	protein binding|protein transporter activity			ovary(2)	2		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.0023)|GBM - Glioblastoma multiforme(134;0.0157)		GCTCCAGCTGCTGAGTAAGGG	0.667												
MYBPC2	4606	broad.mit.edu	37	19	50957409	50957409	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr19:50957409G>A	uc002psf.2	+	17	1933	c.1882G>A	c.(1882-1884)GTG>ATG	p.V628M		NM_004533	NP_004524	Q14324	MYPC2_HUMAN	myosin binding protein C, fast type	628	Ig-like C2-type 5.				cell adhesion|muscle filament sliding	cytosol|myosin filament	actin binding|structural constituent of muscle			breast(1)	1		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)		CGGCGAGGACGTGGCTTCCAT	0.627												
SIGLEC8	27181	broad.mit.edu	37	19	51955642	51955642	+	Silent	SNP	G	G	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr19:51955642G>A	uc002pwt.2	-	7	1558	c.1491C>T	c.(1489-1491)GTC>GTT	p.V497V	SIGLEC8_uc010yda.1_Silent_p.V388V|SIGLEC8_uc002pwu.2_Intron|SIGLEC8_uc010eox.2_Silent_p.V404V	NM_014442	NP_055257	Q9NYZ4	SIGL8_HUMAN	sialic acid binding Ig-like lectin 8 precursor	497	Cytoplasmic (Potential).				cell adhesion	integral to membrane	sugar binding|transmembrane receptor activity			ovary(2)|kidney(1)|central_nervous_system(1)|skin(1)	5		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		ATCAGCCTCTGACTTCTTTGC	0.318												
PPP2R1A	5518	broad.mit.edu	37	19	52716250	52716250	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr19:52716250G>A	uc002pyp.2	+	6	853	c.694G>A	c.(694-696)GCC>ACC	p.A232T	PPP2R1A_uc010ydk.1_Missense_Mutation_p.A177T|PPP2R1A_uc010epm.1_Missense_Mutation_p.A272T|PPP2R1A_uc002pyq.2_Missense_Mutation_p.A53T	NM_014225	NP_055040	P30153	2AAA_HUMAN	alpha isoform of regulatory subunit A, protein	232	PP2A subunit B binding.|SV40 small T antigen binding.|HEAT 6.|Polyoma small and medium T antigens Binding.				ceramide metabolic process|chromosome segregation|G2/M transition of mitotic cell cycle|inactivation of MAPK activity|induction of apoptosis|negative regulation of cell growth|negative regulation of tyrosine phosphorylation of Stat3 protein|protein complex assembly|protein dephosphorylation|regulation of cell adhesion|regulation of cell differentiation|regulation of DNA replication|regulation of transcription, DNA-dependent|regulation of Wnt receptor signaling pathway|response to organic substance|RNA splicing|second-messenger-mediated signaling	chromosome, centromeric region|cytosol|membrane|microtubule cytoskeleton|mitochondrion|nucleus|protein phosphatase type 2A complex|soluble fraction	antigen binding|protein heterodimerization activity|protein phosphatase type 2A regulator activity			endometrium(31)|ovary(28)|lung(2)|breast(2)|skin(1)|kidney(1)|pancreas(1)	66				GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015)		CGTGAACATCGCCCAGCTTCT	0.652			Mis		clear cell ovarian carcinoma							
NLRP12	91662	broad.mit.edu	37	19	54327438	54327438	+	Translation_Start_Site	SNP	G	G	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr19:54327438G>A	uc002qch.3	-	1	211	c.-9C>T	c.(-11--7)CACGG>CATGG		NLRP12_uc002qci.3_Translation_Start_Site|NLRP12_uc002qcj.3_Translation_Start_Site|NLRP12_uc002qck.3_RNA|NLRP12_uc010eqx.2_Translation_Start_Site	NM_144687	NP_653288	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12 isoform						negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding			ovary(4)|upper_aerodigestive_tract(2)|lung(1)	7	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		TGGGGGTGCCGTGAGCCCCAA	0.592												
LENG8	114823	broad.mit.edu	37	19	54968979	54968979	+	Silent	SNP	C	C	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr19:54968979C>T	uc002qfv.1	+	11	1818	c.1674C>T	c.(1672-1674)GAC>GAT	p.D558D	LENG8_uc002qfw.2_Silent_p.D595D			Q96PV6	LENG8_HUMAN	RecName: Full=Leukocyte receptor cluster member 8;	558							protein binding			central_nervous_system(1)|pancreas(1)	2	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.139)		AGAAGCAGGACTACGCGTTTG	0.567												
NLRP11	204801	broad.mit.edu	37	19	56303675	56303675	+	Missense_Mutation	SNP	C	C	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr19:56303675C>A	uc010ygf.1	-	9	3216	c.2505G>T	c.(2503-2505)GAG>GAT	p.E835D	NLRP11_uc002qlz.2_Missense_Mutation_p.E682D|NLRP11_uc002qmb.2_Missense_Mutation_p.E736D|NLRP11_uc002qmc.2_RNA|NLRP11_uc010ete.1_RNA	NM_145007	NP_659444	P59045	NAL11_HUMAN	NLR family, pyrin domain containing 11	835							ATP binding			ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	6		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		ACTGAAGCTCCTCTAACTGAC	0.483												
ZNF71	58491	broad.mit.edu	37	19	57133765	57133765	+	Silent	SNP	G	G	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr19:57133765G>A	uc002qnm.3	+	3	1348	c.1110G>A	c.(1108-1110)ACG>ACA	p.T370T		NM_021216	NP_067039	Q9NQZ8	ZNF71_HUMAN	zinc finger protein 71	370	C2H2-type 9.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			skin(1)	1				GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18)		CCTCGCTCACGCAGCACCAGC	0.617												
ZNF211	10520	broad.mit.edu	37	19	58152147	58152147	+	Missense_Mutation	SNP	G	G	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr19:58152147G>T	uc002qpq.2	+	3	473	c.293G>T	c.(292-294)AGG>ATG	p.R98M	ZNF211_uc010yhb.1_Missense_Mutation_p.R102M|ZNF211_uc002qpp.2_Missense_Mutation_p.R111M|ZNF211_uc002qpr.2_Missense_Mutation_p.R162M|ZNF211_uc002qps.2_Missense_Mutation_p.R163M|ZNF211_uc002qpt.2_Missense_Mutation_p.R110M|ZNF211_uc010yhc.1_Missense_Mutation_p.R110M|ZNF211_uc010yhd.1_Missense_Mutation_p.R37M|ZNF211_uc010yhe.1_Missense_Mutation_p.R89M	NM_198855	NP_942152	Q13398	ZN211_HUMAN	zinc finger protein 211 isoform 2	98	KRAB.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)	2		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		CCACAGTTCAGGACTTCCAAA	0.438												
ZSCAN22	342945	broad.mit.edu	37	19	58850593	58850593	+	Silent	SNP	G	G	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr19:58850593G>T	uc002qsc.2	+	3	1524	c.1377G>T	c.(1375-1377)ACG>ACT	p.T459T	ZSCAN22_uc010yhz.1_3'UTR	NM_181846	NP_862829	P10073	ZSC22_HUMAN	zinc finger and SCAN domain containing 22	459					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			pancreas(1)	1		all_cancers(17;3.11e-12)|all_epithelial(17;9.43e-09)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0289)		GGATCCACACGGGAGAGAAGC	0.532												
ZNF446	55663	broad.mit.edu	37	19	58992029	58992029	+	Missense_Mutation	SNP	G	G	A	rs142233722	byFrequency	TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr19:58992029G>A	uc002qsz.2	+	7	1406	c.1289G>A	c.(1288-1290)CGC>CAC	p.R430H	ZNF446_uc002qta.2_3'UTR|ZNF446_uc010eur.2_3'UTR|SLC27A5_uc002qtb.2_RNA	NM_017908	NP_060378	Q9NWS9	ZN446_HUMAN	zinc finger protein 446	430	C2H2-type 3.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)		GACTGTGGCCGCGCCTTCGAC	0.652												
PXDN	7837	broad.mit.edu	37	2	1653138	1653138	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr2:1653138G>A	uc002qxa.2	-	17	2478	c.2414C>T	c.(2413-2415)ACG>ATG	p.T805M		NM_012293	NP_036425	Q92626	PXDN_HUMAN	peroxidasin precursor	805					extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity			pancreas(6)|ovary(2)	8	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		GACGGTCTCCGTCCCGATCAG	0.652												
IAH1	285148	broad.mit.edu	37	2	9628458	9628458	+	Silent	SNP	G	G	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr2:9628458G>A	uc002qzr.2	+	6	773	c.747G>A	c.(745-747)TAG>TAA	p.*249*	IAH1_uc002qzs.2_Silent_p.*136*|IAH1_uc002qzt.2_Silent_p.*136*|IAH1_uc010yiz.1_RNA	NM_001039613	NP_001034702	Q2TAA2	IAH1_HUMAN	isoamyl acetate-hydrolyzing esterase 1 homolog	249					lipid catabolic process		hydrolase activity, acting on ester bonds				0	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					GAGACCATTAGCCAATCACAG	0.443												
WDR35	57539	broad.mit.edu	37	2	20173395	20173395	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr2:20173395C>T	uc002rdi.2	-	8	919	c.811G>A	c.(811-813)GCA>ACA	p.A271T	WDR35_uc002rdj.2_Missense_Mutation_p.A271T|WDR35_uc010ext.2_RNA|WDR35_uc002rdh.2_5'UTR	NM_001006657	NP_001006658	Q9P2L0	WDR35_HUMAN	WD repeat domain 35 isoform 1	271										ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGGAAGCCTGCCACAGCTAAC	0.458												
WDR35	57539	broad.mit.edu	37	2	20175418	20175418	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr2:20175418C>T	uc002rdi.2	-	6	551	c.443G>A	c.(442-444)CGT>CAT	p.R148H	WDR35_uc002rdj.2_Missense_Mutation_p.R148H|WDR35_uc010ext.2_RNA|WDR35_uc002rdh.2_5'UTR	NM_001006657	NP_001006658	Q9P2L0	WDR35_HUMAN	WD repeat domain 35 isoform 1	148	WD 3.									ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCCCCAAATACGATTGCCTAA	0.373												
RHOB	388	broad.mit.edu	37	2	20647251	20647251	+	Missense_Mutation	SNP	G	G	C			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr2:20647251G>C	uc002rdv.2	+	1	417	c.25G>C	c.(25-27)GTG>CTG	p.V9L		NM_004040	NP_004031	P62745	RHOB_HUMAN	ras homolog gene family, member B precursor	9					angiogenesis|axon guidance|cell adhesion|endosome to lysosome transport|negative regulation of cell cycle|platelet activation|positive regulation of angiogenesis|protein transport|regulation of small GTPase mediated signal transduction|Rho protein signal transduction|transformed cell apoptosis	cytosol|late endosome membrane|nucleus|plasma membrane	GTP binding|GTPase activity|protein binding			ovary(1)|lung(1)	2	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)	all_epithelial(98;4.19e-09)|Lung NSC(108;0.00452)|Ovarian(717;0.0164)		OV - Ovarian serous cystadenocarcinoma(76;1.14e-22)|Epithelial(75;7.84e-19)		CAAGAAGCTGGTGGTGGTGGG	0.687												
ASXL2	55252	broad.mit.edu	37	2	25966441	25966441	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr2:25966441G>A	uc002rgs.2	-	12	2986	c.2765C>T	c.(2764-2766)GCA>GTA	p.A922V	ASXL2_uc002rgt.1_Intron	NM_018263	NP_060733	Q76L83	ASXL2_HUMAN	additional sex combs like 2	922					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|protein binding			pancreas(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCTAGAAGCTGCTGGCAAAGT	0.468												
EIF2B4	8890	broad.mit.edu	37	2	27591927	27591927	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr2:27591927G>A	uc002rkb.2	-	4	507	c.364C>T	c.(364-366)CAA>TAA	p.Q122*	EIF2B4_uc002rjz.2_Nonsense_Mutation_p.Q142*|EIF2B4_uc002rka.2_Nonsense_Mutation_p.Q107*|EIF2B4_uc002rkc.2_Nonsense_Mutation_p.Q121*|EIF2B4_uc002rkd.2_5'UTR|EIF2B4_uc002rke.2_Nonsense_Mutation_p.Q91*|EIF2B4_uc002rkf.1_Nonsense_Mutation_p.Q91*|SNX17_uc010ylj.1_5'Flank|SNX17_uc002rkg.1_5'Flank|SNX17_uc010ylk.1_5'Flank|SNX17_uc010eza.1_5'Flank|SNX17_uc002rki.1_5'Flank|SNX17_uc002rkh.1_5'Flank|SNX17_uc010yll.1_5'Flank|SNX17_uc010ylm.1_5'Flank|SNX17_uc010yln.1_5'Flank|SNX17_uc010ylo.1_5'Flank|SNX17_uc010ylp.1_5'Flank|SNX17_uc010ylq.1_5'Flank	NM_001034116	NP_001029288	Q9UI10	EI2BD_HUMAN	eukaryotic translation initiation factor 2B,	122					myelination|negative regulation of translational initiation in response to stress|oligodendrocyte development|ovarian follicle development|response to glucose stimulus|response to heat|response to peptide hormone stimulus	cytosol|eukaryotic translation initiation factor 2B complex	translation initiation factor activity|translation initiation factor binding				0	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGTCCTCCTTGTTCCCCTTTT	0.562												
IFT172	26160	broad.mit.edu	37	2	27703942	27703942	+	Silent	SNP	G	G	C			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr2:27703942G>C	uc002rku.2	-	8	807	c.756C>G	c.(754-756)GGC>GGG	p.G252G	IFT172_uc002rkw.2_Silent_p.G252G|IFT172_uc010yls.1_Silent_p.G231G|IFT172_uc010ezc.2_Silent_p.G252G|IFT172_uc002rkv.2_Silent_p.G252G	NM_015662	NP_056477	Q9UG01	IF172_HUMAN	selective LIM binding factor homolog	252	WD 6.				cilium assembly	cilium	binding			large_intestine(1)|ovary(1)	2	Acute lymphoblastic leukemia(172;0.155)					CAACAGACTGGCCCCCAGGAC	0.463												
TRMT61B	55006	broad.mit.edu	37	2	29074131	29074131	+	Silent	SNP	A	A	G			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr2:29074131A>G	uc002rmm.2	-	5	1151	c.1119T>C	c.(1117-1119)ATT>ATC	p.I373I	TRMT61B_uc002rmn.2_Silent_p.I373I|TRMT61B_uc010ezk.2_Intron	NM_017910	NP_060380	Q9BVS5	TR61B_HUMAN	tRNA methyltransferase 61 homolog B	373							tRNA (adenine-N1-)-methyltransferase activity				0						CACAGGTGCGAATTCCATCTA	0.323												
GALNT14	79623	broad.mit.edu	37	2	31135133	31135133	+	Missense_Mutation	SNP	C	C	T	rs149431826		TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr2:31135133C>T	uc002rnr.2	-	14	2075	c.1456G>A	c.(1456-1458)GCC>ACC	p.A486T	GALNT14_uc002rnq.2_Missense_Mutation_p.A466T|GALNT14_uc002rns.2_Missense_Mutation_p.A491T|GALNT14_uc010ymr.1_Missense_Mutation_p.A451T	NM_024572	NP_078848	Q96FL9	GLT14_HUMAN	N-acetylgalactosaminyltransferase 14	486	Lumenal (Potential).|Ricin B-type lectin.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			upper_aerodigestive_tract(2)|skin(1)	3	Acute lymphoblastic leukemia(172;0.155)					ACCACTGGGGCGCCAGGGAAC	0.557												
GALNT14	79623	broad.mit.edu	37	2	31152322	31152322	+	Missense_Mutation	SNP	C	C	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr2:31152322C>A	uc002rnr.2	-	11	1709	c.1090G>T	c.(1090-1092)GAT>TAT	p.D364Y	GALNT14_uc002rnq.2_Missense_Mutation_p.D344Y|GALNT14_uc002rns.2_Missense_Mutation_p.D369Y|GALNT14_uc010ymr.1_Missense_Mutation_p.D329Y|GALNT14_uc010ezo.1_Missense_Mutation_p.D331Y	NM_024572	NP_078848	Q96FL9	GLT14_HUMAN	N-acetylgalactosaminyltransferase 14	364	Lumenal (Potential).					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			upper_aerodigestive_tract(2)|skin(1)	3	Acute lymphoblastic leukemia(172;0.155)					TTGTATTCATCCATCCACACT	0.547												
XDH	7498	broad.mit.edu	37	2	31560668	31560668	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr2:31560668G>A	uc002rnv.1	-	35	3869	c.3790C>T	c.(3790-3792)CCC>TCC	p.P1264S		NM_000379	NP_000370	P47989	XDH_HUMAN	xanthine dehydrogenase	1264					purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity			skin(4)|breast(2)|ovary(1)|central_nervous_system(1)	8	Acute lymphoblastic leukemia(172;0.155)				Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)	AGGAAGAGGGGCGGCTCTCCA	0.582												
XDH	7498	broad.mit.edu	37	2	31570415	31570415	+	Silent	SNP	G	G	A	rs45562835		TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr2:31570415G>A	uc002rnv.1	-	29	3328	c.3249C>T	c.(3247-3249)AGC>AGT	p.S1083S		NM_000379	NP_000370	P47989	XDH_HUMAN	xanthine dehydrogenase	1083					purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity			skin(4)|breast(2)|ovary(1)|central_nervous_system(1)	8	Acute lymphoblastic leukemia(172;0.155)				Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)	TGAGGTCAGCGCTGACAGAGG	0.582												
BIRC6	57448	broad.mit.edu	37	2	32703728	32703728	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr2:32703728C>T	uc010ezu.2	+	36	7228	c.7094C>T	c.(7093-7095)ACG>ATG	p.T2365M		NM_016252	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat-containing 6	2365					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)					GCAAATGCCACGAGGCCAACT	0.373												
CYP1B1	1545	broad.mit.edu	37	2	38298092	38298092	+	Missense_Mutation	SNP	G	G	A	rs28936701		TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr2:38298092G>A	uc002rqo.2	-	4	1808	c.1405C>T	c.(1405-1407)CGG>TGG	p.R469W		NM_000104	NP_000095	Q16678	CP1B1_HUMAN	cytochrome P450, family 1, subfamily B,	469					visual perception|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding			ovary(1)|central_nervous_system(1)	2		all_hematologic(82;0.21)			Estrone(DB00655)	CCAATGCACCGCCTTTTGCCC	0.493												
EPCAM	4072	broad.mit.edu	37	2	47607055	47607055	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr2:47607055A>G	uc002rvx.2	+	7	1163	c.805A>G	c.(805-807)ATT>GTT	p.I269V	EPCAM_uc002rvw.2_Missense_Mutation_p.I297V	NM_002354	NP_002345	P16422	EPCAM_HUMAN	epithelial cell adhesion molecule precursor	269	Helical; (Potential).				positive regulation of cell proliferation	apical plasma membrane|basolateral plasma membrane|integral to membrane|lateral plasma membrane|tight junction	protein binding			skin(1)	1						Agctggtgttattgctgttat	0.239									Lynch_syndrome			
ASB3	51130	broad.mit.edu	37	2	53927628	53927628	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr2:53927628A>G	uc002rxg.1	-	8	1153	c.1018T>C	c.(1018-1020)TAT>CAT	p.Y340H	ASB3_uc002rxh.1_Missense_Mutation_p.Y267H|ASB3_uc002rxi.3_Missense_Mutation_p.Y378H|ASB3_uc002rxf.1_RNA	NM_016115	NP_057199	Q9Y575	ASB3_HUMAN	ankyrin repeat and SOCS box-containing protein 3	340	ANK 10.				intracellular signal transduction					ovary(1)|kidney(1)	2			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			TGGGCTCCATATTTCAAAAGA	0.348												
CCDC85A	114800	broad.mit.edu	37	2	56603069	56603069	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr2:56603069A>G	uc002rzn.2	+	5	2073	c.1571A>G	c.(1570-1572)AAG>AGG	p.K524R		NM_001080433	NP_001073902	Q96PX6	CC85A_HUMAN	coiled-coil domain containing 85A	524										breast(3)|ovary(2)	5			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			CATTCTCTTAAGGTAACCAAT	0.493												
KIAA1841	84542	broad.mit.edu	37	2	61343153	61343153	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr2:61343153A>G	uc002saw.3	+	17	2087	c.1784A>G	c.(1783-1785)AAA>AGA	p.K595R	KIAA1841_uc002sax.3_Missense_Mutation_p.K449R|KIAA1841_uc002say.2_Missense_Mutation_p.K595R	NM_001129993	NP_001123465	Q6NSI8	K1841_HUMAN	KIAA1841 protein isoform a	595											0			Epithelial(17;0.193)			AGACAACCAAAAAAGCAGGTA	0.378												
USP34	9736	broad.mit.edu	37	2	61575028	61575028	+	Silent	SNP	G	G	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr2:61575028G>A	uc002sbe.2	-	15	2284	c.2262C>T	c.(2260-2262)CAC>CAT	p.H754H		NM_014709	NP_055524	Q70CQ2	UBP34_HUMAN	ubiquitin specific protease 34	754					positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			ovary(8)|breast(5)|skin(3)|lung(2)|prostate(1)	19			Epithelial(17;0.229)			ggtgatggtggtggtggtggt	0.284												
FAM161A	84140	broad.mit.edu	37	2	62067454	62067454	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr2:62067454G>A	uc010ypo.1	-	3	787	c.685C>T	c.(685-687)CGA>TGA	p.R229*	FAM161A_uc002sbm.3_Nonsense_Mutation_p.R229*|FAM161A_uc002sbn.3_Nonsense_Mutation_p.R39*|FAM161A_uc010fcm.1_RNA|FAM161A_uc010fcn.1_Nonsense_Mutation_p.R120*	NM_032180	NP_115556	Q3B820	F161A_HUMAN	hypothetical protein LOC84140	229					response to stimulus|visual perception	centrosome		p.R229W(1)		large_intestine(2)|ovary(1)	3						CATTCTTTTCGTTTCTTCCTT	0.373												
GKN1	56287	broad.mit.edu	37	2	69204842	69204842	+	Missense_Mutation	SNP	A	A	C			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr2:69204842A>C	uc002sfc.2	+	3	245	c.182A>C	c.(181-183)AAT>ACT	p.N61T		NM_019617	NP_062563	Q9NS71	GKN1_HUMAN	18 kDa antrum mucosa protein precursor	61					digestion|positive regulation of cell division	extracellular region				breast(1)	1						AATGAACACAATGTGGCCAAT	0.398												
CYP26B1	56603	broad.mit.edu	37	2	72371250	72371250	+	Silent	SNP	C	C	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr2:72371250C>T	uc002sih.1	-	2	297	c.297G>A	c.(295-297)GCG>GCA	p.A99A	CYP26B1_uc010yra.1_Silent_p.A82A|CYP26B1_uc010yrb.1_Intron	NM_019885	NP_063938	Q9NR63	CP26B_HUMAN	cytochrome P450, family 26, subfamily b,	99					cell fate determination|embryonic limb morphogenesis|male meiosis|negative regulation of retinoic acid receptor signaling pathway|proximal/distal pattern formation|retinoic acid catabolic process|spermatogenesis|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity|retinoic acid binding			skin(2)	2						GCACGTTCTCCGCGCCGGTCA	0.632												
ALMS1	7840	broad.mit.edu	37	2	73677405	73677405	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr2:73677405C>T	uc002sje.1	+	10	3865	c.3754C>T	c.(3754-3756)CAG>TAG	p.Q1252*	ALMS1_uc002sjf.1_Nonsense_Mutation_p.Q1208*|ALMS1_uc002sjg.2_Nonsense_Mutation_p.Q638*|ALMS1_uc002sjh.1_Nonsense_Mutation_p.Q638*	NM_015120	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	1250	16.|34 X 47 AA approximate tandem repeat.				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				skin(3)|ovary(2)|breast(2)|pancreas(1)|lung(1)	9						TTTCTACCAACAGGTCTTGCC	0.478												
ALMS1	7840	broad.mit.edu	37	2	73784458	73784458	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr2:73784458A>G	uc002sje.1	+	16	10304	c.10193A>G	c.(10192-10194)GAA>GGA	p.E3398G	ALMS1_uc002sjf.1_Missense_Mutation_p.E3354G|ALMS1_uc002sjg.2_Missense_Mutation_p.E2784G|ALMS1_uc002sjh.1_Missense_Mutation_p.E2784G|ALMS1_uc010fev.1_Missense_Mutation_p.E156G	NM_015120	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	3396					G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				skin(3)|ovary(2)|breast(2)|pancreas(1)|lung(1)	9						AAAGAAAAAGAATCTTTGCAG	0.413												
HTRA2	27429	broad.mit.edu	37	2	74757166	74757166	+	Silent	SNP	C	C	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr2:74757166C>T	uc002smi.1	+	1	635	c.33C>T	c.(31-33)GGC>GGT	p.G11G	AUP1_uc002sme.2_5'Flank|AUP1_uc002smf.2_5'Flank|AUP1_uc002smg.2_5'Flank|AUP1_uc002smh.2_5'Flank|AUP1_uc010yrx.1_5'Flank|AUP1_uc010yry.1_5'Flank|HTRA2_uc002smj.1_Silent_p.G11G|HTRA2_uc002smk.1_Silent_p.G11G|HTRA2_uc002sml.1_Silent_p.G11G|HTRA2_uc002smm.1_Intron|HTRA2_uc002smn.1_Intron|HTRA2_uc010ffl.2_5'Flank	NM_013247	NP_037379	O43464	HTRA2_HUMAN	HtrA serine peptidase 2 isoform 1 preproprotein	11					apoptosis|proteolysis|response to stress	CD40 receptor complex|endoplasmic reticulum membrane|internal side of plasma membrane|mitochondrial intermembrane space|mitochondrial membrane|nucleus	serine-type endopeptidase activity|unfolded protein binding			ovary(1)	1						GGGGTGCAGGCTGGAGCCTTC	0.716												
SUCLG1	8802	broad.mit.edu	37	2	84660507	84660507	+	Silent	SNP	C	C	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr2:84660507C>T	uc002son.2	-	6	835	c.642G>A	c.(640-642)ACG>ACA	p.T214T	SUCLG1_uc010ysk.1_Silent_p.T201T	NM_003849	NP_003840	P53597	SUCA_HUMAN	succinate-CoA ligase, GDP-forming alpha subunit	214					tricarboxylic acid cycle		ATP citrate synthase activity|GTP binding|succinate-CoA ligase (GDP-forming) activity				0					Succinic acid(DB00139)	ATCCAACTTGCGTTGTTTGGT	0.378												
ST3GAL5	8869	broad.mit.edu	37	2	86075232	86075232	+	Silent	SNP	G	G	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr2:86075232G>A	uc002sqq.1	-	4	543	c.414C>T	c.(412-414)AGC>AGT	p.S138S	ST3GAL5_uc010fgq.1_Silent_p.S10S|ST3GAL5_uc002sqp.1_Silent_p.S115S	NM_003896	NP_003887	Q9UNP4	SIAT9_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase	138	Lumenal (Potential).				ganglioside biosynthetic process|protein glycosylation	integral to Golgi membrane|integral to plasma membrane	lactosylceramide alpha-2,3-sialyltransferase activity|neolactotetraosylceramide alpha-2,3-sialyltransferase activity				0						GTAAGTCCACGCTATACCTGT	0.488												
SMYD1	150572	broad.mit.edu	37	2	88390622	88390622	+	Missense_Mutation	SNP	A	A	C			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr2:88390622A>C	uc002ssr.2	+	4	622	c.620A>C	c.(619-621)GAC>GCC	p.D207A	SMYD1_uc002ssq.1_Intron|SMYD1_uc002sss.2_5'UTR	NM_198274	NP_938015	Q8NB12	SMYD1_HUMAN	SET and MYND domain containing 1	207	SET.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			ovary(2)|lung(1)|skin(1)	4						GTGAACCATGACTGTTGGCCC	0.512												
PDCL3	79031	broad.mit.edu	37	2	101192940	101192940	+	Silent	SNP	C	C	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr2:101192940C>T	uc002tao.2	+	6	814	c.702C>T	c.(700-702)AGC>AGT	p.S234S		NM_024065	NP_076970	Q9H2J4	PDCL3_HUMAN	phosducin-like 3	234					apoptosis|interspecies interaction between organisms	cytoplasm	protein binding				0						AGAGGGACAGCGATTCCGAGG	0.463												
MAP4K4	9448	broad.mit.edu	37	2	102499030	102499030	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr2:102499030C>T	uc002tbg.2	+	25	3023	c.2968C>T	c.(2968-2970)CGT>TGT	p.R990C	MAP4K4_uc002tbc.2_Missense_Mutation_p.R1071C|MAP4K4_uc002tbd.2_Missense_Mutation_p.R963C|MAP4K4_uc002tbe.2_Missense_Mutation_p.R909C|MAP4K4_uc002tbf.2_Missense_Mutation_p.R1024C|MAP4K4_uc010yvy.1_Missense_Mutation_p.R986C|MAP4K4_uc002tbh.2_Missense_Mutation_p.R908C|MAP4K4_uc002tbi.2_Missense_Mutation_p.R793C|MAP4K4_uc010yvz.1_Missense_Mutation_p.R1030C|MAP4K4_uc002tbk.2_Missense_Mutation_p.R445C|MAP4K4_uc002tbl.2_Missense_Mutation_p.R176C	NM_145687	NP_663720	O95819	M4K4_HUMAN	mitogen-activated protein kinase kinase kinase	990	CNH.|Mediates interaction with RAP2A.				intracellular protein kinase cascade|regulation of JNK cascade|response to stress	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			stomach(1)|lung(1)|central_nervous_system(1)|skin(1)	4						GGATAAGTTACGTGTCTACTA	0.338												
GPR45	11250	broad.mit.edu	37	2	105858406	105858406	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr2:105858406G>A	uc002tco.1	+	1	207	c.91G>A	c.(91-93)GCA>ACA	p.A31T		NM_007227	NP_009158	Q9Y5Y3	GPR45_HUMAN	G protein-coupled receptor 45	31	Extracellular (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding			ovary(1)|breast(1)|central_nervous_system(1)	3						CCAGTTGCCCGCACCCCTCAG	0.602												
GCC2	9648	broad.mit.edu	37	2	109088059	109088059	+	Silent	SNP	G	G	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr2:109088059G>A	uc002tec.2	+	6	2428	c.2274G>A	c.(2272-2274)CAG>CAA	p.Q758Q	GCC2_uc002ted.2_Silent_p.Q657Q	NM_181453	NP_852118	Q8IWJ2	GCC2_HUMAN	GRIP and coiled-coil domain-containing 2	758	Potential.				Golgi ribbon formation|late endosome to Golgi transport|microtubule anchoring|microtubule organizing center organization|protein localization in Golgi apparatus|protein targeting to lysosome|recycling endosome to Golgi transport|regulation of protein exit from endoplasmic reticulum	membrane|trans-Golgi network	identical protein binding			ovary(1)	1						TTAAAACTCAGTTGTATGGTT	0.338												
ANKRD57	65124	broad.mit.edu	37	2	110373584	110373584	+	Silent	SNP	A	A	G			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr2:110373584A>G	uc002tfb.2	+	1	1674	c.1518A>G	c.(1516-1518)GAA>GAG	p.E506E	SEPT10_uc010ywu.1_5'Flank|SEPT10_uc002tew.2_5'Flank|SEPT10_uc002tex.2_5'Flank|SEPT10_uc002tey.2_5'Flank|SEPT10_uc010ywv.1_5'Flank	NM_023016	NP_075392	Q53LP3	ANR57_HUMAN	ankyrin repeat domain 57	506											0						TGGGGGAGGAACGACCTGTTA	0.498												
ACOXL	55289	broad.mit.edu	37	2	111556607	111556607	+	Silent	SNP	C	C	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr2:111556607C>T	uc002tgr.3	+	7	701	c.477C>T	c.(475-477)ATC>ATT	p.I159I	ACOXL_uc010fkc.2_Silent_p.I159I|ACOXL_uc010yxk.1_Silent_p.I159I	NM_001105516	NP_001098986	Q9NUZ1	ACOXL_HUMAN	acyl-Coenzyme A oxidase-like 2	159					fatty acid beta-oxidation	peroxisome	acyl-CoA dehydrogenase activity|acyl-CoA oxidase activity				0						ACTGTTTCATCGTTCCTGTCC	0.468												
IL1F8	27177	broad.mit.edu	37	2	113788675	113788675	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr2:113788675A>G	uc002tiq.1	-	3	175	c.71T>C	c.(70-72)CTG>CCG	p.L24P	IL1F8_uc002tir.1_Missense_Mutation_p.L24P	NM_014438	NP_055253	Q9NZH7	IL36B_HUMAN	interleukin 1 family, member 8 isoform 1	24					immune response	extracellular space	cytokine activity|interleukin-1 receptor binding			ovary(1)	1						ATTTCCACTCAGGACCCACAC	0.468												
TFCP2L1	29842	broad.mit.edu	37	2	121992863	121992863	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr2:121992863C>T	uc002tmx.2	-	11	1121	c.1028G>A	c.(1027-1029)CGA>CAA	p.R343Q	TFCP2L1_uc010flr.2_Missense_Mutation_p.R343Q|TFCP2L1_uc010flq.2_5'Flank	NM_014553	NP_055368	Q9NZI6	TF2L1_HUMAN	LBP-9	343					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)					CAAATCATCTCGGGACATCTT	0.557												
GPR17	2840	broad.mit.edu	37	2	128408876	128408876	+	Silent	SNP	C	C	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr2:128408876C>A	uc010yzn.1	+	4	1262	c.651C>A	c.(649-651)GCC>GCA	p.A217A	LIMS2_uc002tox.2_Intron|LIMS2_uc010fmb.2_Intron|LIMS2_uc002toy.2_Intron|LIMS2_uc010yzm.1_Intron|LIMS2_uc002tpa.2_Intron|LIMS2_uc002toz.2_Intron|LIMS2_uc002tpb.2_Intron|GPR17_uc002tpc.2_Silent_p.A217A|GPR17_uc010yzo.1_Silent_p.A189A|GPR17_uc002tpd.2_Silent_p.A189A	NM_001161415	NP_001154887	Q13304	GPR17_HUMAN	G protein-coupled receptor 17 isoform a	217	Extracellular (Potential).					integral to plasma membrane	chemokine receptor activity|purinergic nucleotide receptor activity, G-protein coupled				0	Colorectal(110;0.1)	Ovarian(717;0.15)		BRCA - Breast invasive adenocarcinoma(221;0.0677)		GGGAGAAGGCCTCCCACCATG	0.667												
TUBA3D	113457	broad.mit.edu	37	2	132240222	132240222	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr2:132240222C>T	uc002tsu.3	+	5	1261	c.1154C>T	c.(1153-1155)GCG>GTG	p.A385V		NM_080386	NP_525125	Q13748	TBA3C_HUMAN	tubulin, alpha 3d	385					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity				0				BRCA - Breast invasive adenocarcinoma(221;0.13)		ACGGCCATTGCGGAGGCCTGG	0.632												
ZRANB3	84083	broad.mit.edu	37	2	136107605	136107605	+	Silent	SNP	G	G	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr2:136107605G>A	uc002tum.2	-	5	657	c.540C>T	c.(538-540)GCC>GCT	p.A180A	ZRANB3_uc002tuk.2_5'UTR|ZRANB3_uc002tul.2_Silent_p.A180A|ZRANB3_uc002tun.1_Silent_p.A120A	NM_032143	NP_115519	Q5FWF4	ZRAB3_HUMAN	zinc finger, RAN-binding domain containing 3	180	Helicase ATP-binding.					intracellular	ATP binding|DNA binding|endonuclease activity|helicase activity|zinc ion binding			lung(2)	2				BRCA - Breast invasive adenocarcinoma(221;0.135)		TGGCTCGTCTGGCTTTCTGTA	0.408												
GTDC1	79712	broad.mit.edu	37	2	144966324	144966324	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr2:144966324A>G	uc002tvp.2	-	4	304	c.25T>C	c.(25-27)TTC>CTC	p.F9L	GTDC1_uc002tvo.2_Missense_Mutation_p.F9L|GTDC1_uc002tvq.2_Missense_Mutation_p.F9L|GTDC1_uc002tvr.2_Missense_Mutation_p.F9L|GTDC1_uc010fnn.2_Missense_Mutation_p.F9L|GTDC1_uc002tvs.2_5'UTR|GTDC1_uc010fno.2_Intron|GTDC1_uc002tvt.1_Missense_Mutation_p.F9L	NM_001006636	NP_001006637	Q4AE62	GTDC1_HUMAN	glycosyltransferase-like domain containing 1	9					biosynthetic process		transferase activity, transferring glycosyl groups			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(221;0.0914)		CCTCCATAGAATGCTTCAATG	0.378												
TNFAIP6	7130	broad.mit.edu	37	2	152220548	152220548	+	Silent	SNP	C	C	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr2:152220548C>T	uc002txk.2	+	2	262	c.186C>T	c.(184-186)GGC>GGT	p.G62G		NM_007115	NP_009046	P98066	TSG6_HUMAN	tumor necrosis factor, alpha-induced protein 6	62	Link.				cell adhesion|cell-cell signaling|inflammatory response|signal transduction		hyaluronic acid binding				0				BRCA - Breast invasive adenocarcinoma(221;0.131)		AATTTGAAGGCGGCCATCTCG	0.448												
FAP	2191	broad.mit.edu	37	2	163030235	163030235	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr2:163030235T>C	uc002ucd.2	-	23	2240	c.2032A>G	c.(2032-2034)AAG>GAG	p.K678E	FAP_uc010fpc.2_Missense_Mutation_p.K227E|FAP_uc010zct.1_Missense_Mutation_p.K653E|FAP_uc010fpd.2_Missense_Mutation_p.K157E	NM_004460	NP_004451	Q12884	SEPR_HUMAN	fibroblast activation protein, alpha subunit	678	Extracellular (Potential).				endothelial cell migration|negative regulation of extracellular matrix disassembly|proteolysis	cell junction|integral to membrane|invadopodium membrane|lamellipodium membrane	dipeptidyl-peptidase activity|metalloendopeptidase activity|protein homodimerization activity|serine-type endopeptidase activity			ovary(3)	3						ACACTTACCTTATAGTGCTCA	0.318												
IFIH1	64135	broad.mit.edu	37	2	163163274	163163274	+	Missense_Mutation	SNP	C	C	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr2:163163274C>A	uc002uce.2	-	3	936	c.714G>T	c.(712-714)TGG>TGT	p.W238C		NM_022168	NP_071451	Q9BYX4	IFIH1_HUMAN	interferon induced with helicase C domain 1	238					detection of virus|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|regulation of apoptosis	cytosol|nucleus	ATP binding|DNA binding|double-stranded RNA binding|helicase activity|protein binding|ribonucleoprotein binding|zinc ion binding			ovary(1)	1						TCTCCATGCCCCAGACCTCCT	0.388												
CSRNP3	80034	broad.mit.edu	37	2	166536038	166536038	+	Silent	SNP	C	C	T	rs144711438		TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr2:166536038C>T	uc002udf.2	+	7	1909	c.1533C>T	c.(1531-1533)AGC>AGT	p.S511S	CSRNP3_uc002udg.2_Silent_p.S511S	NM_024969	NP_079245	Q8WYN3	CSRN3_HUMAN	cysteine-serine-rich nuclear protein 3	511					apoptosis|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(3)|large_intestine(1)|skin(1)	5						AAAATGATAGCGGTGTGCCCT	0.502												
SCN1A	6323	broad.mit.edu	37	2	166859173	166859173	+	Missense_Mutation	SNP	C	C	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr2:166859173C>A	uc010zcz.1	-	21	4078	c.4060G>T	c.(4060-4062)GGC>TGC	p.G1354C	SCN1A_uc002udo.3_Missense_Mutation_p.G1234C|SCN1A_uc010fpk.2_Missense_Mutation_p.G1206C	NM_006920	NP_008851	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha	1365	III.|Helical; Name=S5 of repeat III; (By similarity).					voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(6)|skin(6)|large_intestine(1)	13					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	AAATTTACGCCCATGATGCTG	0.393												
NOSTRIN	115677	broad.mit.edu	37	2	169707788	169707788	+	Splice_Site	SNP	G	G	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr2:169707788G>A	uc002ueg.2	+	10	734	c.730_splice	c.e10-1	p.C244_splice	NOSTRIN_uc002uef.2_Splice_Site_p.C301_splice|NOSTRIN_uc002uei.2_Splice_Site_p.C127_splice|NOSTRIN_uc010fpu.2_Splice_Site_p.C216_splice|NOSTRIN_uc002ueh.2_Splice_Site_p.C166_splice|NOSTRIN_uc002uej.2_Splice_Site_p.C127_splice	NM_001039724	NP_001034813	Q8IVI9	NOSTN_HUMAN	nitric oxide synthase trafficker isoform 2						endocytosis|nitric oxide metabolic process|regulation of nitric-oxide synthase activity	cytoplasmic membrane-bounded vesicle|cytoskeleton|plasma membrane	protein binding				0						TGGCATTGCAGTGCCACACGC	0.428												
TLK1	9874	broad.mit.edu	37	2	171850351	171850351	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr2:171850351A>G	uc002ugn.2	-	21	2712	c.2240T>C	c.(2239-2241)CTA>CCA	p.L747P	TLK1_uc002ugo.2_Missense_Mutation_p.L768P|TLK1_uc002ugp.2_Missense_Mutation_p.L699P|TLK1_uc010zdn.1_Missense_Mutation_p.L651P	NM_012290	NP_036422	Q9UKI8	TLK1_HUMAN	tousled-like kinase 1 isoform 1	747					cell cycle|chromatin modification|intracellular protein transport|intracellular signal transduction|regulation of chromatin assembly or disassembly|response to DNA damage stimulus	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(1)	1						AGCCATGTGTAGGTTTCCTGA	0.433												
KIAA1715	80856	broad.mit.edu	37	2	176857040	176857040	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr2:176857040A>G	uc002ukc.1	-	4	369	c.176T>C	c.(175-177)TTA>TCA	p.L59S	KIAA1715_uc010zer.1_Missense_Mutation_p.L59S|KIAA1715_uc010fqw.1_Missense_Mutation_p.L125S|KIAA1715_uc010zes.1_Intron|KIAA1715_uc002ukd.1_Intron|KIAA1715_uc010zet.1_RNA	NM_030650	NP_085153	Q9C0E8	LNP_HUMAN	Lunapark	59	Helical; (Potential).					integral to membrane	protein binding			ovary(2)|skin(1)	3			OV - Ovarian serous cystadenocarcinoma(117;0.0793)			ATATACAATTAAGCATGTAAA	0.313												
EVX2	344191	broad.mit.edu	37	2	176947015	176947015	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr2:176947015C>T	uc010zeu.1	-	2	776	c.590G>A	c.(589-591)CGC>CAC	p.R197H		NM_001080458	NP_001073927	Q03828	EVX2_HUMAN	even-skipped homeobox 2	197	Homeobox.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(2)	2			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	READ - Rectum adenocarcinoma(9;0.0678)|Colorectal(32;0.115)		GATCTGCTCGCGGGTGAACGC	0.711												
HOXD12	3238	broad.mit.edu	37	2	176964686	176964686	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr2:176964686G>A	uc010zev.1	+	1	157	c.157G>A	c.(157-159)GCC>ACC	p.A53T	HOXD12_uc010zew.1_Missense_Mutation_p.A53T	NM_021193	NP_067016	P35452	HXD12_HUMAN	homeobox D12	53						nuclear chromosome	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0521)|READ - Rectum adenocarcinoma(9;0.0678)		GCCCTGGGCCGCCACGCCCGC	0.731												
RBM45	129831	broad.mit.edu	37	2	178982857	178982857	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr2:178982857C>T	uc002ulv.2	+	3	591	c.499C>T	c.(499-501)CGA>TGA	p.R167*		NM_152945	NP_694453	Q8IUH3	RBM45_HUMAN	RNA binding motif protein 45	167	RRM 2.				cell differentiation|nervous system development	cytoplasm|nucleus	nucleotide binding|RNA binding				0			OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.00957)|all cancers(119;0.037)			GGGCTACGTACGATACTTAAA	0.333												
TTN	7273	broad.mit.edu	37	2	179408762	179408762	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr2:179408762A>G	uc010zfg.1	-	295	88629	c.88405T>C	c.(88405-88407)TCT>CCT	p.S29469P	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.S23164P|TTN_uc010zfi.1_Missense_Mutation_p.S23097P|TTN_uc010zfj.1_Missense_Mutation_p.S22972P	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	30396							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)			CCAGATACAGACACCATCAAG	0.483												
TTN	7273	broad.mit.edu	37	2	179414547	179414547	+	Silent	SNP	C	C	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr2:179414547C>A	uc010zfg.1	-	287	84422	c.84198G>T	c.(84196-84198)GGG>GGT	p.G28066G	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.G21761G|TTN_uc010zfi.1_Silent_p.G21694G|TTN_uc010zfj.1_Silent_p.G21569G	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	28993							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)			TCATCTTCTCCCCAGTAATAT	0.423												
TTN	7273	broad.mit.edu	37	2	179422678	179422678	+	Silent	SNP	G	G	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr2:179422678G>A	uc010zfg.1	-	277	79923	c.79699C>T	c.(79699-79701)CTA>TTA	p.L26567L	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.L20262L|TTN_uc010zfi.1_Silent_p.L20195L|TTN_uc010zfj.1_Silent_p.L20070L	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	27494							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)			GGCCTGTCTAGCACAACAATG	0.448												
TTN	7273	broad.mit.edu	37	2	179449206	179449206	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr2:179449206A>G	uc010zfg.1	-	260	57592	c.57368T>C	c.(57367-57369)ATT>ACT	p.I19123T	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.I12818T|TTN_uc010zfi.1_Missense_Mutation_p.I12751T|TTN_uc010zfj.1_Missense_Mutation_p.I12626T	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	20050							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)			ATAACCAATAATGGGGCTCCC	0.453												
TTN	7273	broad.mit.edu	37	2	179463686	179463686	+	Silent	SNP	T	T	C			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr2:179463686T>C	uc010zfg.1	-	240	49271	c.49047A>G	c.(49045-49047)ACA>ACG	p.T16349T	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.T10044T|TTN_uc010zfi.1_Silent_p.T9977T|TTN_uc010zfj.1_Silent_p.T9852T	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	17276							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)			GCCAGTACCCTGTCACAGGAG	0.463												
TTN	7273	broad.mit.edu	37	2	179579734	179579734	+	Missense_Mutation	SNP	C	C	G			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr2:179579734C>G	uc010zfg.1	-	87	22671	c.22447G>C	c.(22447-22449)GTT>CTT	p.V7483L	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.V4144L	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	8410							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)			ATGGAACCAACGCAAGTGTCG	0.478												
TTN	7273	broad.mit.edu	37	2	179632855	179632855	+	Missense_Mutation	SNP	A	A	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr2:179632855A>T	uc010zfg.1	-	39	9415	c.9191T>A	c.(9190-9192)ATT>AAT	p.I3064N	TTN_uc010zfh.1_Missense_Mutation_p.I3018N|TTN_uc010zfi.1_Missense_Mutation_p.I3018N|TTN_uc010zfj.1_Missense_Mutation_p.I3018N|TTN_uc002unb.2_Missense_Mutation_p.I3064N	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	3064							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)			AATGTCCTTAATGTGTTTCCT	0.299												
TTN	7273	broad.mit.edu	37	2	179641015	179641015	+	Missense_Mutation	SNP	C	C	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr2:179641015C>A	uc010zfg.1	-	28	5800	c.5576G>T	c.(5575-5577)AGG>ATG	p.R1859M	TTN_uc010zfh.1_Missense_Mutation_p.R1813M|TTN_uc010zfi.1_Missense_Mutation_p.R1813M|TTN_uc010zfj.1_Missense_Mutation_p.R1813M|TTN_uc002unb.2_Missense_Mutation_p.R1859M|uc002unc.1_5'Flank	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	1859							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)			GCAGCGGAACCTTGCAGTCTC	0.483												
PDE1A	5136	broad.mit.edu	37	2	183387016	183387016	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr2:183387016G>A	uc002uos.2	-	2	172	c.88C>T	c.(88-90)CGC>TGC	p.R30C	PDE1A_uc010zfp.1_5'UTR|PDE1A_uc002uoq.1_Missense_Mutation_p.R30C|PDE1A_uc010zfq.1_Missense_Mutation_p.R30C|PDE1A_uc002uov.1_RNA	NM_001003683	NP_001003683	P54750	PDE1A_HUMAN	phosphodiesterase 1A isoform 2	30	Calmodulin-binding (By similarity).				activation of phospholipase C activity|nerve growth factor receptor signaling pathway|platelet activation	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			skin(2)|ovary(1)	3			OV - Ovarian serous cystadenocarcinoma(117;0.061)			CCTTTCAGGCGCTGCCACATT	0.418												
ZNF804A	91752	broad.mit.edu	37	2	185802311	185802311	+	Missense_Mutation	SNP	T	T	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr2:185802311T>A	uc002uph.2	+	4	2782	c.2188T>A	c.(2188-2190)TCA>ACA	p.S730T		NM_194250	NP_919226	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	730						intracellular	zinc ion binding			ovary(6)|skin(3)|large_intestine(1)|pancreas(1)	11						AACCAAAATGTCAAGCTGTAG	0.328												
CALCRL	10203	broad.mit.edu	37	2	188225351	188225351	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr2:188225351A>G	uc002upv.3	-	10	1303	c.755T>C	c.(754-756)TTA>TCA	p.L252S	CALCRL_uc010frt.2_Missense_Mutation_p.L252S	NM_005795	NP_005786	Q16602	CALRL_HUMAN	calcitonin receptor-like precursor	252	Cytoplasmic (Potential).					integral to plasma membrane				lung(3)|ovary(1)	4			OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(96;0.227)			ATACCACATTAAATGTTGCTT	0.403												
ANKAR	150709	broad.mit.edu	37	2	190554311	190554311	+	Silent	SNP	T	T	C			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr2:190554311T>C	uc002uqw.1	+	2	447	c.447T>C	c.(445-447)AAT>AAC	p.N149N	ANKAR_uc002uqu.2_RNA|ANKAR_uc002uqv.1_Silent_p.N220N	NM_144708	NP_653309	Q7Z5J8	ANKAR_HUMAN	ankyrin and armadillo repeat containing	220						integral to membrane	binding			ovary(2)|pancreas(1)|skin(1)	4			OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744)			AAGACGTGAATGAAGATCCAA	0.308												
PMS1	5378	broad.mit.edu	37	2	190732552	190732552	+	Silent	SNP	C	C	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr2:190732552C>T	uc002urh.3	+	11	2899	c.2370C>T	c.(2368-2370)GAC>GAT	p.D790D	PMS1_uc002urk.3_Silent_p.D751D|PMS1_uc002uri.3_Silent_p.D628D|PMS1_uc010zgc.1_Silent_p.D614D|PMS1_uc010zgd.1_Silent_p.D614D|PMS1_uc002urj.2_RNA|PMS1_uc010fry.1_Intron|PMS1_uc010frz.2_Intron|PMS1_uc002url.2_Silent_p.D413D|PMS1_uc002urm.2_RNA	NM_000534	NP_000525	P54277	PMS1_HUMAN	postmeiotic segregation 1 isoform a	790					mismatch repair|reciprocal meiotic recombination	MutLalpha complex	ATP binding|ATPase activity|mismatched DNA binding			ovary(2)|kidney(1)|central_nervous_system(1)	4			OV - Ovarian serous cystadenocarcinoma(117;0.0013)|Epithelial(96;0.0263)|all cancers(119;0.0751)			ATTATTTAGACGTTTTATATA	0.328			Mis|N			colorectal|endometrial|ovarian		Direct_reversal_of_damage|MMR				
MYO1B	4430	broad.mit.edu	37	2	192265122	192265122	+	Silent	SNP	G	G	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr2:192265122G>A	uc010fsg.2	+	22	2565	c.2310G>A	c.(2308-2310)CTG>CTA	p.L770L	MYO1B_uc002usq.2_Silent_p.L770L|MYO1B_uc002usr.2_Silent_p.L770L|MYO1B_uc002usu.2_Silent_p.L44L|MYO1B_uc002usv.2_5'Flank	NM_001130158	NP_001123630	O43795	MYO1B_HUMAN	myosin IB isoform 1	770	IQ 3.					myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			central_nervous_system(5)|large_intestine(2)|ovary(1)	8			OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236)			GAAAAATTCTGCGGGAACTGA	0.458												
DNAH7	56171	broad.mit.edu	37	2	196664111	196664111	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr2:196664111A>G	uc002utj.3	-	55	10363	c.10262T>C	c.(10261-10263)TTT>TCT	p.F3421S		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	3421	AAA 6 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			skin(10)|ovary(2)	12						ACTGTCTCCAAATGCCTTGGC	0.453												
HECW2	57520	broad.mit.edu	37	2	197172692	197172692	+	Missense_Mutation	SNP	T	T	G			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr2:197172692T>G	uc002utm.1	-	11	2735	c.2552A>C	c.(2551-2553)AAC>ACC	p.N851T	HECW2_uc002utl.1_Missense_Mutation_p.N495T	NM_020760	NP_065811	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin	851	Interaction with TP73.|Potential.				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						CTGTATGGAGTTAGATCTCTG	0.527												
GTF3C3	9330	broad.mit.edu	37	2	197664327	197664327	+	Silent	SNP	C	C	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr2:197664327C>T	uc002uts.2	-	1	99	c.9G>A	c.(7-9)GGG>GGA	p.G3G	GTF3C3_uc010zgu.1_Silent_p.G3G|GTF3C3_uc002utu.2_Silent_p.G3G	NM_012086	NP_036218	Q9Y5Q9	TF3C3_HUMAN	general transcription factor IIIC, polypeptide	3						transcription factor TFIIIC complex	DNA binding|protein binding			ovary(3)|breast(3)|pancreas(1)	7						CCGGACTGAACCCTGACATGT	0.557												
C2orf69	205327	broad.mit.edu	37	2	200789806	200789806	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr2:200789806C>T	uc010zhb.1	+	2	538	c.355C>T	c.(355-357)CGT>TGT	p.R119C		NM_153689	NP_710156	Q8N8R5	CB069_HUMAN	hypothetical protein LOC205327 precursor	119						extracellular region				central_nervous_system(1)	1						AATTATGACTCGTCATCCTGA	0.308												
TRAK2	66008	broad.mit.edu	37	2	202257733	202257733	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr2:202257733C>A	uc002uyb.3	-	10	1458	c.1012G>T	c.(1012-1014)GGA>TGA	p.G338*		NM_015049	NP_055864	O60296	TRAK2_HUMAN	trafficking protein, kinesin binding 2	338	Potential.			Missing (in Ref. 2).		early endosome|plasma membrane	GABA receptor binding				0						TGTAACATTCCTAGACACTCC	0.403												
BMPR2	659	broad.mit.edu	37	2	203329559	203329559	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr2:203329559C>T	uc002uzf.3	+	2	1252	c.104C>T	c.(103-105)GCG>GTG	p.A35V	BMPR2_uc010ftr.2_Missense_Mutation_p.A35V|BMPR2_uc002uze.2_Missense_Mutation_p.A35V	NM_001204	NP_001195	Q13873	BMPR2_HUMAN	bone morphogenetic protein receptor type II	35	Extracellular (Potential).				anterior/posterior pattern formation|BMP signaling pathway|cellular response to starvation|lung alveolus development|mesoderm formation|negative regulation of cell growth|negative regulation of systemic arterial blood pressure|negative regulation of vasoconstriction|positive regulation of BMP signaling pathway|positive regulation of bone mineralization|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of epithelial cell migration|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|regulation of lung blood pressure|transcription from RNA polymerase II promoter|vascular endothelial growth factor receptor signaling pathway	integral to plasma membrane	ATP binding|metal ion binding|transforming growth factor beta receptor activity			ovary(4)|breast(2)|large_intestine(1)|stomach(1)|pancreas(1)	9						CGGCTATGTGCGTTTAAAGAT	0.333												
PARD3B	117583	broad.mit.edu	37	2	205989106	205989106	+	Silent	SNP	C	C	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr2:205989106C>T	uc002var.1	+	9	1428	c.1221C>T	c.(1219-1221)CCC>CCT	p.P407P	PARD3B_uc010fub.1_Silent_p.P407P|PARD3B_uc002vao.1_Silent_p.P407P|PARD3B_uc002vap.1_Silent_p.P407P|PARD3B_uc002vaq.1_Silent_p.P407P	NM_152526	NP_689739	Q8TEW8	PAR3L_HUMAN	par-3 partitioning defective 3 homolog B isoform	407	PDZ 2.				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)		TACATGGTCCCGGTCCCATTT	0.413												
NDUFS1	4719	broad.mit.edu	37	2	207008772	207008772	+	Missense_Mutation	SNP	C	C	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr2:207008772C>A	uc002vbe.2	-	10	1084	c.957G>T	c.(955-957)TGG>TGT	p.W319C	NDUFS1_uc010ziq.1_Missense_Mutation_p.W333C|NDUFS1_uc010zir.1_Missense_Mutation_p.W283C|NDUFS1_uc010zis.1_Missense_Mutation_p.W262C|NDUFS1_uc010zit.1_Missense_Mutation_p.W208C|NDUFS1_uc010ziu.1_Missense_Mutation_p.W203C	NM_005006	NP_004997	P28331	NDUS1_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 1,	319					apoptosis|ATP metabolic process|mitochondrial electron transport, NADH to ubiquinone|reactive oxygen species metabolic process|regulation of mitochondrial membrane potential|transport	mitochondrial intermembrane space|mitochondrial respiratory chain complex I	2 iron, 2 sulfur cluster binding|4 iron, 4 sulfur cluster binding|electron carrier activity|metal ion binding|NADH dehydrogenase (ubiquinone) activity|protein binding			ovary(1)	1					NADH(DB00157)	GCGCATCCTCCCAAGAAGTAT	0.383												
LANCL1	10314	broad.mit.edu	37	2	211305366	211305366	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr2:211305366C>T	uc010zjh.1	-	6	721	c.646G>A	c.(646-648)GGG>AGG	p.G216R	LANCL1_uc002ved.2_Missense_Mutation_p.G216R|LANCL1_uc010fuq.2_Missense_Mutation_p.G216R	NM_001136574	NP_001130046	O43813	LANC1_HUMAN	lanthionine synthetase C-like protein 1	216						cytoplasm|integral to plasma membrane|microtubule cytoskeleton|nucleus	catalytic activity|G-protein coupled receptor activity|glutathione binding|low-density lipoprotein particle receptor binding|SH3 domain binding|zinc ion binding				0				Epithelial(149;0.00562)|Lung(261;0.0468)|LUSC - Lung squamous cell carcinoma(261;0.0495)|all cancers(144;0.0569)		TGAGCAGCCCCTACATAATAT	0.408												
SPAG16	79582	broad.mit.edu	37	2	214204980	214204980	+	Silent	SNP	T	T	C			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr2:214204980T>C	uc002veq.2	+	6	722	c.630T>C	c.(628-630)ATT>ATC	p.I210I	SPAG16_uc010fuz.1_Silent_p.I61I|SPAG16_uc002ver.2_Silent_p.I156I|SPAG16_uc010zjk.1_Silent_p.I116I|SPAG16_uc002vep.1_Intron|SPAG16_uc002ves.1_Silent_p.I179I	NM_024532	NP_078808	Q8N0X2	SPG16_HUMAN	sperm associated antigen 16 isoform 1	210	Potential.				cilium assembly	cilium axoneme|flagellar axoneme				ovary(1)|skin(1)	2		Renal(323;0.00461)		UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599)		ACAAATTAATTAATGACCTCA	0.289												
IGFBP2	3485	broad.mit.edu	37	2	217528681	217528681	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr2:217528681G>A	uc010zjt.1	+	6	961	c.811G>A	c.(811-813)GGG>AGG	p.G271R	IGFBP2_uc010zju.1_3'UTR	NM_000597	NP_000588	P18065	IBP2_HUMAN	insulin-like growth factor binding protein 2,	278	Thyroglobulin type-1.				positive regulation of activated T cell proliferation|regulation of cell growth|regulation of insulin-like growth factor receptor signaling pathway	extracellular space	insulin-like growth factor I binding|insulin-like growth factor II binding				0		Renal(323;0.0458)		Epithelial(149;2.9e-06)|all cancers(144;0.000223)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00968)		GTCTCTGAACGGGCAGCGTGG	0.617												
RUFY4	285180	broad.mit.edu	37	2	218940176	218940176	+	Silent	SNP	C	C	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr2:218940176C>T	uc002vgw.2	+	10	2286	c.442C>T	c.(442-444)CTG>TTG	p.L148L	RUFY4_uc002vgy.1_RNA|RUFY4_uc010fvl.1_Silent_p.L148L	NM_198483	NP_940885	Q6ZNE9	RUFY4_HUMAN	RUN and FYVE domain containing 4	321							metal ion binding			pancreas(1)	1		Renal(207;0.0915)		Epithelial(149;4.11e-06)|all cancers(144;0.000519)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		AGGGGTTCTGCTGGTTGCAGA	0.602												
CTDSP1	58190	broad.mit.edu	37	2	219268006	219268006	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr2:219268006C>T	uc002vhy.2	+	6	859	c.523C>T	c.(523-525)CGG>TGG	p.R175W	CTDSP1_uc002vhx.2_Missense_Mutation_p.R174W|CTDSP1_uc002vhz.2_Missense_Mutation_p.R34W	NM_021198	NP_067021	Q9GZU7	CTDS1_HUMAN	CTD (carboxy-terminal domain, RNA polymerase II,	175	FCP1 homology.				protein dephosphorylation|regulation of transcription from RNA polymerase II promoter	nucleus	CTD phosphatase activity|metal ion binding|protein binding			ovary(1)	1		Renal(207;0.0915)		Epithelial(149;9.96e-07)|all cancers(144;0.00017)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CTTCCGGGCCCGGCTGTTTCG	0.642												
ZNF142	7701	broad.mit.edu	37	2	219508772	219508772	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr2:219508772G>A	uc002vin.2	-	8	2903	c.2467C>T	c.(2467-2469)CGG>TGG	p.R823W	ZNF142_uc002vil.2_Missense_Mutation_p.R784W|ZNF142_uc010fvt.2_Missense_Mutation_p.R660W|ZNF142_uc002vim.2_Missense_Mutation_p.R660W	NM_001105537	NP_001099007	P52746	ZN142_HUMAN	zinc finger protein 142	823					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|ovary(1)|skin(1)	4		Renal(207;0.0474)		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		ATCTGCACCCGCCCCTCTAGC	0.577												
RNF25	64320	broad.mit.edu	37	2	219529239	219529239	+	Missense_Mutation	SNP	G	G	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr2:219529239G>T	uc002vit.2	-	10	909	c.821C>A	c.(820-822)CCT>CAT	p.P274H	RNF25_uc010fvw.2_Missense_Mutation_p.P162H	NM_022453	NP_071898	Q96BH1	RNF25_HUMAN	ring finger protein 25	274					positive regulation of NF-kappaB transcription factor activity	cytosol|nucleus	NF-kappaB binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2		Renal(207;0.0474)		Epithelial(149;6.99e-07)|all cancers(144;0.000129)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGCTGACTCAGGTTCCGCAGG	0.552												
SPEG	10290	broad.mit.edu	37	2	220348728	220348728	+	Silent	SNP	C	C	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr2:220348728C>T	uc010fwg.2	+	30	6543	c.6543C>T	c.(6541-6543)CCC>CCT	p.P2181P		NM_005876	NP_005867	Q15772	SPEG_HUMAN	SPEG complex locus	2181	Pro-rich.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			stomach(9)|ovary(4)|central_nervous_system(1)	14		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		CTGCACGGCCCAGCGCCCCCA	0.657												
PAX3	5077	broad.mit.edu	37	2	223158932	223158932	+	Silent	SNP	G	G	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr2:223158932G>A	uc010fwo.2	-	4	906	c.540C>T	c.(538-540)AGC>AGT	p.S180S	PAX3_uc002vmt.1_Silent_p.S180S|PAX3_uc002vmy.1_Silent_p.S179S|PAX3_uc002vmv.1_Silent_p.S180S|PAX3_uc002vmw.1_Silent_p.S180S|PAX3_uc002vmx.1_Silent_p.S180S|PAX3_uc002vmz.1_Silent_p.S180S|PAX3_uc002vna.1_Silent_p.S180S	NM_181457	NP_852122	P23760	PAX3_HUMAN	paired box 3 isoform PAX3	180					apoptosis|organ morphogenesis|positive regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		PAX3/FOXO1(749)|PAX3/NCOA1(8)|PAX3/NCOA2(4)	soft_tissue(761)|ovary(4)|skin(1)	766		Renal(207;0.0183)		Epithelial(121;4.13e-10)|all cancers(144;1.85e-07)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCTTCTTCTCGCTTTCCTCTG	0.607			T	FOXO1A|NCOA1	alveolar rhabdomyosarcoma		Waardenburg syndrome; craniofacial-deafness-hand syndrome					
TRIP12	9320	broad.mit.edu	37	2	230638845	230638845	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr2:230638845C>T	uc002vpw.1	-	37	5546	c.5437G>A	c.(5437-5439)GTC>ATC	p.V1813I	TRIP12_uc002vpx.1_Missense_Mutation_p.V1861I|TRIP12_uc002vpy.1_Missense_Mutation_p.V1543I	NM_004238	NP_004229	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	1813					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)		TGGATAGTGACTGGTATATCC	0.453												
ECEL1	9427	broad.mit.edu	37	2	233350722	233350722	+	Silent	SNP	G	G	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr2:233350722G>A	uc002vsv.2	-	2	847	c.642C>T	c.(640-642)GGC>GGT	p.G214G	ECEL1_uc010fya.1_Silent_p.G214G|ECEL1_uc010fyb.1_5'UTR	NM_004826	NP_004817	O95672	ECEL1_HUMAN	endothelin converting enzyme-like 1	214	Lumenal (Potential).				neuropeptide signaling pathway|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity			central_nervous_system(2)	2		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000771)|Lung(119;0.00213)|LUSC - Lung squamous cell carcinoma(224;0.00746)		CCTCCGCGCCGCCCAGGTCCC	0.711												
AGAP1	116987	broad.mit.edu	37	2	236957834	236957834	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr2:236957834A>G	uc002vvs.2	+	16	2618	c.2023A>G	c.(2023-2025)AAG>GAG	p.K675E	AGAP1_uc002vvt.2_Missense_Mutation_p.K622E	NM_001037131	NP_001032208	Q9UPQ3	AGAP1_HUMAN	centaurin, gamma 2 isoform 1	675	Arf-GAP.				protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm	ARF GTPase activator activity|GTP binding|zinc ion binding			ovary(2)|skin(1)	3						CGAGCTCATCAAGGTGATGTC	0.572												
UBE2F	140739	broad.mit.edu	37	2	238944574	238944574	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr2:238944574G>A	uc002vxk.2	+	9	591	c.500G>A	c.(499-501)CGG>CAG	p.R167Q	UBE2F_uc010znn.1_Missense_Mutation_p.R135Q|UBE2F_uc002vxl.2_RNA|UBE2F_uc010zno.1_RNA|UBE2F_uc010znp.1_3'UTR|SCLY_uc002vxm.3_5'UTR	NM_080678	NP_542409	Q969M7	UBE2F_HUMAN	NEDD8-conjugating enzyme	167					protein neddylation		ATP binding|NEDD8 ligase activity|protein binding				0		Breast(86;0.0042)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;6.7e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|Kidney(56;3.53e-09)|KIRC - Kidney renal clear cell carcinoma(57;9.79e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000136)|Lung(119;0.0126)|LUSC - Lung squamous cell carcinoma(224;0.0301)		CATCATTTGCGGGACAAGGTG	0.368												
GPC1	2817	broad.mit.edu	37	2	241401875	241401875	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr2:241401875C>T	uc002vyw.3	+	3	814	c.593C>T	c.(592-594)GCG>GTG	p.A198V		NM_002081	NP_002072	P35052	GPC1_HUMAN	glypican 1 precursor	198					axon guidance	anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			breast(1)	1		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;4.51e-33)|all cancers(36;1.74e-30)|OV - Ovarian serous cystadenocarcinoma(60;4.73e-15)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;9.1e-06)|Colorectal(34;0.000487)|Lung(119;0.0013)|LUSC - Lung squamous cell carcinoma(224;0.0154)|COAD - Colon adenocarcinoma(134;0.0194)|READ - Rectum adenocarcinoma(96;0.0949)		CAGGCCGAGGCGCTGCGGCCC	0.711												
KIF1A	547	broad.mit.edu	37	2	241679772	241679772	+	Silent	SNP	C	C	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr2:241679772C>T	uc002vzy.2	-	34	3602	c.3456G>A	c.(3454-3456)CCG>CCA	p.P1152P	KIF1A_uc010fzk.2_Silent_p.P1253P|KIF1A_uc002vzz.1_Silent_p.P1253P	NM_004321	NP_004312	Q12756	KIF1A_HUMAN	axonal transport of synaptic vesicles	1152					anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity			lung(1)	1		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		CCACCACGGCCGGGATGTAAC	0.652												
PPP1R7	5510	broad.mit.edu	37	2	242105795	242105795	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr2:242105795A>G	uc002wat.1	+	8	773	c.758A>G	c.(757-759)AAC>AGC	p.N253S	PPP1R7_uc010fzm.1_Missense_Mutation_p.N237S|PPP1R7_uc002war.2_Missense_Mutation_p.N247S|PPP1R7_uc002was.2_Missense_Mutation_p.N253S|PPP1R7_uc002wau.1_Missense_Mutation_p.N210S|PPP1R7_uc002wav.1_Missense_Mutation_p.N179S	NM_002712	NP_002703	Q15435	PP1R7_HUMAN	protein phosphatase 1, regulatory subunit 7	253	LRR 9.					cytoplasm|nucleus	protein binding|protein phosphatase type 1 regulator activity			ovary(3)	3		all_cancers(19;6.1e-33)|all_epithelial(40;1.07e-13)|Breast(86;0.000141)|Renal(207;0.00528)|all_lung(227;0.0446)|Ovarian(221;0.104)|Lung NSC(271;0.115)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;6.92e-32)|all cancers(36;5.35e-29)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-14)|Kidney(56;4.23e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.24e-08)|BRCA - Breast invasive adenocarcinoma(100;3.56e-06)|Lung(119;0.000588)|LUSC - Lung squamous cell carcinoma(224;0.0048)|Colorectal(34;0.0137)|COAD - Colon adenocarcinoma(134;0.096)		AACCTGGTGAACCTGCGGGAG	0.552												
HDLBP	3069	broad.mit.edu	37	2	242179413	242179413	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr2:242179413G>A	uc002waz.2	-	18	2522	c.2294C>T	c.(2293-2295)GCG>GTG	p.A765V	HDLBP_uc002wba.2_Missense_Mutation_p.A765V|HDLBP_uc002wbb.2_Missense_Mutation_p.A717V	NM_203346	NP_976221	Q00341	VIGLN_HUMAN	high density lipoprotein binding protein	765	KH 9.				cholesterol metabolic process|lipid transport	cytoplasm|high-density lipoprotein particle|nucleus|plasma membrane	lipid binding|protein binding|RNA binding			breast(3)|skin(1)	4		all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928)		GTCCTCAGCCGCAGGGAAGAT	0.577												
HDLBP	3069	broad.mit.edu	37	2	242203935	242203935	+	Silent	SNP	C	C	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr2:242203935C>A	uc002waz.2	-	4	390	c.162G>T	c.(160-162)CTG>CTT	p.L54L	HDLBP_uc002wba.2_Silent_p.L54L|HDLBP_uc002wbb.2_Silent_p.L75L|HDLBP_uc010fzn.1_5'UTR|uc010zoo.1_5'Flank	NM_203346	NP_976221	Q00341	VIGLN_HUMAN	high density lipoprotein binding protein	54					cholesterol metabolic process|lipid transport	cytoplasm|high-density lipoprotein particle|nucleus|plasma membrane	lipid binding|protein binding|RNA binding			breast(3)|skin(1)	4		all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928)		GGGCACTTTCCAGGCAAGCAG	0.507												
CSNK2A1	1457	broad.mit.edu	37	20	472991	472991	+	Missense_Mutation	SNP	C	C	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr20:472991C>A	uc002wdw.1	-	9	921	c.528G>T	c.(526-528)TGG>TGT	p.W176C	CSNK2A1_uc002wdx.1_Missense_Mutation_p.W176C|CSNK2A1_uc002wdy.1_Missense_Mutation_p.W40C	NM_177559	NP_808227	P68400	CSK21_HUMAN	casein kinase II alpha 1 subunit isoform a	176	Protein kinase.				axon guidance|Wnt receptor signaling pathway	cytosol|NuRD complex|plasma membrane|Sin3 complex	ATP binding|protein N-terminus binding|protein serine/threonine kinase activity			ovary(1)	1		Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.0969)			CAGCCAAACCCCAGTCTATTA	0.393												
C20orf54	113278	broad.mit.edu	37	20	745873	745873	+	Silent	SNP	C	C	T	rs139965967	byFrequency	TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr20:745873C>T	uc002wed.3	-	2	885	c.546G>A	c.(544-546)ACG>ACA	p.T182T	C20orf54_uc002wee.2_Silent_p.T182T	NM_033409	NP_212134	Q9NQ40	RFT2_HUMAN	hypothetical protein LOC113278 precursor	182					sensory perception of sound	integral to plasma membrane	riboflavin transporter activity			ovary(2)	2						CAGTCTCCCTCGTGGGTACAG	0.493												
VPS16	64601	broad.mit.edu	37	20	2840753	2840753	+	Missense_Mutation	SNP	C	C	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr20:2840753C>A	uc002whe.2	+	3	244	c.196C>A	c.(196-198)CTC>ATC	p.L66I	VPS16_uc002whh.2_5'Flank|VPS16_uc002whf.2_Missense_Mutation_p.L66I|VPS16_uc002whd.2_RNA|VPS16_uc002whg.2_5'Flank	NM_022575	NP_072097	Q9H269	VPS16_HUMAN	vacuolar protein sorting 16 isoform 1	66					intracellular protein transport	early endosome|HOPS complex|late endosome membrane|lysosomal membrane|recycling endosome				ovary(2)|pancreas(1)|skin(1)	4						GAGGCCAGTGCTCGATATATA	0.592												
PTPRA	5786	broad.mit.edu	37	20	2969091	2969091	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr20:2969091G>A	uc010zqd.1	+	8	1059	c.742G>A	c.(742-744)GAC>AAC	p.D248N	PTPRA_uc002whj.2_Missense_Mutation_p.D237N|PTPRA_uc010zqc.1_Missense_Mutation_p.D122N|PTPRA_uc002whk.2_Missense_Mutation_p.D228N|PTPRA_uc002whl.2_Missense_Mutation_p.D228N|PTPRA_uc002whm.2_Missense_Mutation_p.D4N|PTPRA_uc002whn.2_Missense_Mutation_p.D228N|PTPRA_uc002who.2_5'UTR	NM_002836	NP_002827	P18433	PTPRA_HUMAN	protein tyrosine phosphatase, receptor type, A	237	Cytoplasmic (Potential).				axon guidance|protein phosphorylation	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			upper_aerodigestive_tract(1)	1						AATGGCAGACGACAATAAGCT	0.507												
MAVS	57506	broad.mit.edu	37	20	3838363	3838363	+	Missense_Mutation	SNP	G	G	A	rs142867936		TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr20:3838363G>A	uc002wjw.3	+	3	368	c.199G>A	c.(199-201)GGC>AGC	p.G67S	MAVS_uc002wjv.2_Missense_Mutation_p.G67S|MAVS_uc010zqn.1_Missense_Mutation_p.G67S|MAVS_uc002wjx.3_Intron|MAVS_uc002wjy.3_5'UTR	NM_020746	NP_065797	Q7Z434	MAVS_HUMAN	virus-induced signaling adapter	67	Cytoplasmic (Probable).|Required for interaction with NLRX1.|CARD.			GWV->AAA: Impairs ability to induce IFN- beta.	activation of innate immune response|cellular response to exogenous dsRNA|defense response to bacterium|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of chemokine (C-C motif) ligand 5 production|positive regulation of defense response to virus by host|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interleukin-8 production|positive regulation of IP-10 production|positive regulation of protein import into nucleus, translocation|positive regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of type I interferon-mediated signaling pathway|response to virus	integral to membrane|mitochondrial outer membrane	CARD domain binding|protein kinase binding|signal transducer activity				0						GCGGCGGCCCGGCTGGGTGGA	0.612												
PRNP	5621	broad.mit.edu	37	20	4680115	4680115	+	Silent	SNP	G	G	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr20:4680115G>A	uc002wku.2	+	2	612	c.249G>A	c.(247-249)CAG>CAA	p.Q83Q	PRNP_uc002wkv.2_Silent_p.Q83Q|PRNP_uc002wkw.2_Silent_p.Q83Q|PRNP_uc002wkx.2_Silent_p.Q83Q|PRNP_uc002wkt.1_Silent_p.Q83Q|PRNP_uc002wky.2_Silent_p.Q83Q|PRNP_uc010gbe.1_Silent_p.Q83Q	NM_001080122	NP_001073591	P04156	PRIO_HUMAN	prion protein preproprotein	83	Interaction with GRB2, ERI3 and SYN1 (By similarity).|5 X 8 AA tandem repeats of P-H-G-G-G-W-G- Q.|4.				axon guidance|cell cycle arrest|cellular copper ion homeostasis|metabolic process|negative regulation of activated T cell proliferation|negative regulation of calcineurin-NFAT signaling pathway|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-2 production|negative regulation of protein phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of T cell receptor signaling pathway|protein homooligomerization|response to oxidative stress	anchored to membrane|endoplasmic reticulum|extrinsic to membrane|Golgi apparatus|membrane raft|nucleus|plasma membrane	copper ion binding|identical protein binding|microtubule binding			central_nervous_system(1)	1					Tetracycline(DB00759)	GCTGGGGACAGCCTCATGGTG	0.647												
PRND	23627	broad.mit.edu	37	20	4705306	4705306	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr20:4705306C>T	uc002wkz.2	+	2	180	c.109C>T	c.(109-111)CGG>TGG	p.R37W		NM_012409	NP_036541	Q9UKY0	PRND_HUMAN	prion-like protein doppel preproprotein	37	Flexible tail.				protein homooligomerization	anchored to membrane|plasma membrane					0						CAAGTGGAACCGGAAGGCCCT	0.617												
GPCPD1	56261	broad.mit.edu	37	20	5579450	5579450	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr20:5579450A>G	uc002wme.3	-	3	280	c.67T>C	c.(67-69)TGT>CGT	p.C23R		NM_019593	NP_062539	Q9NPB8	GPCP1_HUMAN	hypothetical protein LOC56261	23	CBM20.				glycerol metabolic process|lipid metabolic process		carbohydrate binding|glycerophosphodiester phosphodiesterase activity				0						CAGCTTCCACATATCGCAAAA	0.423												
PLCB4	5332	broad.mit.edu	37	20	9438112	9438112	+	Silent	SNP	G	G	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr20:9438112G>A	uc002wnf.2	+	32	3148	c.3012G>A	c.(3010-3012)ACG>ACA	p.T1004T	PLCB4_uc010gbw.1_Silent_p.T1004T|PLCB4_uc010gbx.2_Silent_p.T1016T|PLCB4_uc002wne.2_Silent_p.T1004T|PLCB4_uc002wnh.2_Silent_p.T851T	NM_182797	NP_877949	Q15147	PLCB4_HUMAN	phospholipase C beta 4 isoform b	1004					intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			skin(11)|ovary(3)|pancreas(1)	15						AAATTCAGACGCTGACATCAG	0.348												
TASP1	55617	broad.mit.edu	37	20	13463963	13463963	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr20:13463963C>T	uc002woi.2	-	11	1013	c.896G>A	c.(895-897)CGC>CAC	p.R299H	TASP1_uc010zri.1_RNA|TASP1_uc002woh.2_Missense_Mutation_p.R276H|TASP1_uc010zrj.1_RNA	NM_017714	NP_060184	Q9H6P5	TASP1_HUMAN	taspase 1 precursor	299					asparagine catabolic process via L-aspartate|positive regulation of transcription, DNA-dependent|protein maturation		threonine-type endopeptidase activity				0						CAGTATGGTGCGCACAAGATG	0.433												
HM13	81502	broad.mit.edu	37	20	30126018	30126018	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr20:30126018A>G	uc002wwe.2	+	3	433	c.319A>G	c.(319-321)ATG>GTG	p.M107V	HM13_uc002wwc.2_Missense_Mutation_p.M107V|HM13_uc002wwd.2_Missense_Mutation_p.M107V|HM13_uc002wwb.1_Missense_Mutation_p.M107V	NM_030789	NP_110416	Q8TCT9	HM13_HUMAN	minor histocompatibility antigen 13 isoform 1	107	Helical; (Potential).				membrane protein proteolysis	cell surface|endoplasmic reticulum membrane|integral to membrane|plasma membrane	aspartic-type endopeptidase activity|protein binding			breast(1)	1	all_cancers(5;3.44e-05)|Lung NSC(7;4.38e-06)|all_lung(7;7.65e-06)|all_hematologic(12;0.158)|Ovarian(7;0.198)		all cancers(5;0.000479)|Colorectal(19;0.00202)|COAD - Colon adenocarcinoma(19;0.0264)			CCTGCTGTCCATGTATTTCTT	0.473												
TTLL9	164395	broad.mit.edu	37	20	30521638	30521638	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr20:30521638T>C	uc010gdx.1	+	11	1037	c.784T>C	c.(784-786)TCT>CCT	p.S262P	TTLL9_uc002wwy.1_RNA|TTLL9_uc002wwz.1_RNA|TTLL9_uc002wxa.1_RNA|TTLL9_uc002wxb.1_RNA|TTLL9_uc010zto.1_RNA|TTLL9_uc002wxc.2_Missense_Mutation_p.S164P|TTLL9_uc010ztp.1_RNA|TTLL9_uc010ztq.1_RNA	NM_001008409	NP_001008409	Q3SXZ7	TTLL9_HUMAN	tubulin tyrosine ligase-like family, member 9	262	TTL.				protein modification process	cilium|microtubule|microtubule basal body	ATP binding|tubulin-tyrosine ligase activity			ovary(2)	2			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			GCAAAAAACATCTCCCGACTA	0.607												
KIF3B	9371	broad.mit.edu	37	20	30904022	30904022	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr20:30904022C>T	uc002wxq.2	+	3	1573	c.1406C>T	c.(1405-1407)GCC>GTC	p.A469V	KIF3B_uc010ztw.1_Missense_Mutation_p.A407V	NM_004798	NP_004789	O15066	KIF3B_HUMAN	kinesin family member 3B	469	Potential.				anterograde axon cargo transport|blood coagulation|determination of left/right symmetry|mitotic centrosome separation|plus-end-directed vesicle transport along microtubule|spindle assembly involved in mitosis	centrosome|cytosol|kinesin II complex|plus-end kinesin complex|spindle microtubule	ATP binding|plus-end-directed microtubule motor activity|Rho GTPase binding			central_nervous_system(3)|ovary(2)	5			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			CTCACTCAGGCCATGGAGAGT	0.428												
ZNF341	84905	broad.mit.edu	37	20	32332958	32332958	+	Silent	SNP	G	G	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr20:32332958G>A	uc002wzy.2	+	3	212	c.192G>A	c.(190-192)TCG>TCA	p.S64S	ZNF341_uc002wzx.2_Silent_p.S64S|ZNF341_uc010geq.2_Intron|ZNF341_uc010ger.2_RNA	NM_032819	NP_116208	Q9BYN7	ZN341_HUMAN	zinc finger protein 341	64	C2H2-type 1; atypical.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2						AATTCAACTCGCTGCCAGCGT	0.562												
NCOA6	23054	broad.mit.edu	37	20	33342667	33342667	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr20:33342667C>T	uc002xav.2	-	9	4104	c.1533G>A	c.(1531-1533)ATG>ATA	p.M511I	NCOA6_uc002xaw.2_Missense_Mutation_p.M511I	NM_014071	NP_054790	Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	511	TBP/GTF2A-binding region.|NCOA1-binding region.|Gln-rich.|CREBBP-binding region.				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding			ovary(3)|breast(3)|central_nervous_system(1)	7						GGCGTTTAGGCATTCCTTAAT	0.463												
CPNE1	8904	broad.mit.edu	37	20	34218826	34218826	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr20:34218826T>C	uc002xdf.2	-	13	1355	c.992A>G	c.(991-993)GAC>GGC	p.D331G	CPNE1_uc002xdc.2_5'UTR|CPNE1_uc010zvj.1_Missense_Mutation_p.D336G|CPNE1_uc002xde.2_Missense_Mutation_p.D307G|CPNE1_uc002xdg.2_Missense_Mutation_p.D331G|CPNE1_uc010gfi.2_RNA|CPNE1_uc010gfj.2_RNA|CPNE1_uc002xdh.2_Missense_Mutation_p.D331G|CPNE1_uc002xdi.2_Missense_Mutation_p.D331G|CPNE1_uc002xdj.2_Missense_Mutation_p.D331G|CPNE1_uc002xdk.2_Missense_Mutation_p.D331G|CPNE1_uc002xdl.2_Missense_Mutation_p.D331G|CPNE1_uc002xdm.2_Missense_Mutation_p.D331G|CPNE1_uc010gfk.1_3'UTR	NM_152931	NP_690908	Q99829	CPNE1_HUMAN	copine I isoform a	331	VWFA.				lipid metabolic process|vesicle-mediated transport		calcium-dependent phospholipid binding|phosphatidylserine binding|transporter activity			upper_aerodigestive_tract(1)	1	Lung NSC(9;0.0053)|all_lung(11;0.00785)		BRCA - Breast invasive adenocarcinoma(18;0.00953)			TACTCACGAGTCATAGTCCTG	0.562												
C20orf117	140710	broad.mit.edu	37	20	35433186	35433186	+	Missense_Mutation	SNP	C	C	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr20:35433186C>A	uc002xgd.1	-	10	2652	c.2325G>T	c.(2323-2325)AAG>AAT	p.K775N	C20orf117_uc002xge.1_RNA	NM_199181	NP_954650	O94964	K0889_HUMAN	hypothetical protein LOC140710 isoform 2	775											0		Myeloproliferative disorder(115;0.00874)				CCCAGGTAGCCTTGGCCTTGG	0.617												
RPRD1B	58490	broad.mit.edu	37	20	36686021	36686021	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr20:36686021A>G	uc002xho.3	+	4	905	c.503A>G	c.(502-504)CAG>CGG	p.Q168R		NM_021215	NP_067038	Q9NQG5	RPR1B_HUMAN	Regulation of nuclear pre-mRNA domain containing	168										pancreas(1)	1						TACTCTCCTCAGGATCCTTCT	0.493											OREG0025919	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
SLC32A1	140679	broad.mit.edu	37	20	37356284	37356284	+	Missense_Mutation	SNP	T	T	G			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr20:37356284T>G	uc002xjc.2	+	2	843	c.580T>G	c.(580-582)TGC>GGC	p.C194G		NM_080552	NP_542119	Q9H598	VIAAT_HUMAN	solute carrier family 32, member 1	194	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)	CAACGCCTGCTGCGCCCCGCG	0.632												
CHD6	84181	broad.mit.edu	37	20	40102126	40102126	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr20:40102126G>A	uc002xka.1	-	17	2678	c.2500C>T	c.(2500-2502)CGG>TGG	p.R834W	CHD6_uc002xkd.2_Missense_Mutation_p.R812W	NM_032221	NP_115597	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	834	Helicase C-terminal.				chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding			ovary(6)|skin(5)|lung(2)|central_nervous_system(1)	14		Myeloproliferative disorder(115;0.00425)				AGGTTTCCCCGTACTCGCCCA	0.532												
PTPRT	11122	broad.mit.edu	37	20	40713354	40713354	+	Silent	SNP	G	G	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr20:40713354G>A	uc002xkg.2	-	29	4288	c.4104C>T	c.(4102-4104)GAC>GAT	p.D1368D	PTPRT_uc010ggj.2_Silent_p.D1387D|PTPRT_uc010ggi.2_Silent_p.D571D	NM_007050	NP_008981	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	1368	Cytoplasmic (Potential).|Tyrosine-protein phosphatase 2.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			skin(8)|ovary(7)|lung(5)	20		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				CCTCCCTCCCGTCATACTGCT	0.602												
PTPRT	11122	broad.mit.edu	37	20	40747077	40747077	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr20:40747077A>G	uc002xkg.2	-	21	3132	c.2948T>C	c.(2947-2949)ATC>ACC	p.I983T	PTPRT_uc010ggj.2_Missense_Mutation_p.I1002T|PTPRT_uc010ggi.2_Missense_Mutation_p.I186T	NM_007050	NP_008981	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	983	Tyrosine-protein phosphatase 1.|Cytoplasmic (Potential).				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			skin(8)|ovary(7)|lung(5)	20		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				GACCATGACGATGCTGGCGGA	0.517												
WISP2	8839	broad.mit.edu	37	20	43355865	43355865	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr20:43355865C>T	uc002xmn.2	+	5	1023	c.670C>T	c.(670-672)CGA>TGA	p.R224*	uc002xml.1_Intron|uc002xmm.1_Intron|WISP2_uc002xmp.2_Nonsense_Mutation_p.R224*|WISP2_uc002xmq.2_Silent_p.A141A	NM_003881	NP_003872	O76076	WISP2_HUMAN	WNT1 inducible signaling pathway protein 2	224	TSP type-1.				cell adhesion|cell-cell signaling|signal transduction	extracellular region|soluble fraction	insulin-like growth factor binding			skin(1)	1		Myeloproliferative disorder(115;0.0122)				CCGCTTCTGCCGACTGGAGAC	0.677												
PABPC1L	80336	broad.mit.edu	37	20	43566708	43566708	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr20:43566708G>A	uc010ggv.1	+	13	1734	c.1652G>A	c.(1651-1653)CGT>CAT	p.R551H	PABPC1L_uc010zwq.1_RNA|PABPC1L_uc002xmv.2_RNA|PABPC1L_uc002xmw.2_Missense_Mutation_p.R105H|PABPC1L_uc002xmx.2_Missense_Mutation_p.R105H	NM_001124756	NP_001118228	Q4VXU2	PAP1L_HUMAN	poly(A)-binding protein, cytoplasmic 1-like	551	PABC.						nucleotide binding|RNA binding			ovary(1)	1						ACAGGGGAGCGTCTCTACCCC	0.577												
KCNS1	3787	broad.mit.edu	37	20	43727255	43727255	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr20:43727255C>T	uc002xnc.2	-	4	555	c.158G>A	c.(157-159)CGC>CAC	p.R53H	KCNS1_uc002xnd.2_Missense_Mutation_p.R53H	NM_002251	NP_002242	Q96KK3	KCNS1_HUMAN	potassium voltage-gated channel	53	Cytoplasmic (Potential).					voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium channel regulator activity|protein binding				0		Myeloproliferative disorder(115;0.0122)				CACGTTCACGCGCAGCGCCTC	0.751												
SLC2A10	81031	broad.mit.edu	37	20	45354636	45354636	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr20:45354636G>A	uc002xsl.2	+	2	1058	c.961G>A	c.(961-963)GTG>ATG	p.V321M		NM_030777	NP_110404	O95528	GTR10_HUMAN	solute carrier family 2 member 10	321	Extracellular (Potential).					endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane	D-glucose transmembrane transporter activity|sugar:hydrogen symporter activity			ovary(1)	1		Myeloproliferative disorder(115;0.0122)				CAGCTTTGCCGTGCCCATGGA	0.657												
NCOA3	8202	broad.mit.edu	37	20	46251037	46251037	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr20:46251037C>T	uc002xtk.2	+	3	251	c.46C>T	c.(46-48)CGA>TGA	p.R16*	NCOA3_uc010ght.1_Nonsense_Mutation_p.R16*|NCOA3_uc002xtl.2_Nonsense_Mutation_p.R16*|NCOA3_uc002xtm.2_Nonsense_Mutation_p.R16*|NCOA3_uc002xtn.2_Nonsense_Mutation_p.R16*	NM_181659	NP_858045	Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3 isoform a	16					androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding			ovary(3)|lung(1)|skin(1)	5						CAGTGATTCACGAAAACGCAA	0.383												
ARFGEF2	10564	broad.mit.edu	37	20	47630223	47630223	+	Silent	SNP	A	A	G			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr20:47630223A>G	uc002xtx.3	+	29	4193	c.4041A>G	c.(4039-4041)GTA>GTG	p.V1347V	ARFGEF2_uc010zyf.1_Silent_p.V640V	NM_006420	NP_006411	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine	1347					exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction	cytosol|Golgi membrane	ARF guanyl-nucleotide exchange factor activity			breast(3)|upper_aerodigestive_tract(1)	4			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			AGTTAGATGTACGAACAAGGT	0.488												
ZNFX1	57169	broad.mit.edu	37	20	47886982	47886982	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr20:47886982A>G	uc002xui.2	-	3	1614	c.1367T>C	c.(1366-1368)ATG>ACG	p.M456T		NM_021035	NP_066363	Q9P2E3	ZNFX1_HUMAN	zinc finger, NFX1-type containing 1	456							metal ion binding			ovary(2)	2			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			GTCCTTGGACATGCATACCAA	0.458												
NFATC2	4773	broad.mit.edu	37	20	50133480	50133480	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr20:50133480G>A	uc002xwd.2	-	3	1395	c.1175C>T	c.(1174-1176)GCA>GTA	p.A392V	NFATC2_uc002xwc.2_Missense_Mutation_p.A392V|NFATC2_uc010zyv.1_Missense_Mutation_p.A173V|NFATC2_uc010zyw.1_Missense_Mutation_p.A173V|NFATC2_uc010zyx.1_Missense_Mutation_p.A372V|NFATC2_uc010zyy.1_Missense_Mutation_p.A173V|NFATC2_uc010zyz.1_Missense_Mutation_p.A173V|NFATC2_uc002xwe.2_Missense_Mutation_p.A372V	NM_173091	NP_775114	Q13469	NFAC2_HUMAN	nuclear factor of activated T-cells,	392	RHD.				B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug	actin cytoskeleton|nucleus|plasma membrane	protein binding|sequence-specific DNA binding transcription factor activity			ovary(2)	2	Hepatocellular(150;0.248)					AGGGAGGGATGCAGTCACTGG	0.493												
ZFP64	55734	broad.mit.edu	37	20	50769032	50769032	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr20:50769032G>A	uc002xwl.2	-	6	2048	c.1699C>T	c.(1699-1701)CCG>TCG	p.P567S	ZFP64_uc002xwk.2_Intron|ZFP64_uc002xwm.2_Missense_Mutation_p.P565S|ZFP64_uc002xwn.2_Missense_Mutation_p.P513S	NM_018197	NP_060667	Q9NPA5	ZF64A_HUMAN	zinc finger protein 64 isoform a	567					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			upper_aerodigestive_tract(1)|ovary(1)	2						AGGACAGCCGGCTGGGTCATT	0.682												
ZFP64	55734	broad.mit.edu	37	20	50769441	50769441	+	Silent	SNP	G	G	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr20:50769441G>A	uc002xwl.2	-	6	1639	c.1290C>T	c.(1288-1290)TGC>TGT	p.C430C	ZFP64_uc002xwk.2_Intron|ZFP64_uc002xwm.2_Silent_p.C428C|ZFP64_uc002xwn.2_Silent_p.C376C	NM_018197	NP_060667	Q9NPA5	ZF64A_HUMAN	zinc finger protein 64 isoform a	430	C2H2-type 9.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			upper_aerodigestive_tract(1)|ovary(1)	2						AGGAGGCATCGCATATATCGC	0.562												
BCAS1	8537	broad.mit.edu	37	20	52645024	52645024	+	Silent	SNP	G	G	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr20:52645024G>A	uc002xws.2	-	4	968	c.630C>T	c.(628-630)GAC>GAT	p.D210D	BCAS1_uc010zzb.1_Silent_p.D113D|BCAS1_uc010gim.2_Silent_p.D113D|BCAS1_uc002xwt.2_Silent_p.D210D|BCAS1_uc010gil.1_Silent_p.D210D|BCAS1_uc010zzc.1_Silent_p.D113D	NM_003657	NP_003648	O75363	BCAS1_HUMAN	breast carcinoma amplified sequence 1	210						cytoplasm	protein binding			ovary(2)|central_nervous_system(1)	3	Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05)		STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198)			CCTGTTGGCTGTCACCTGGCA	0.547												
MC3R	4159	broad.mit.edu	37	20	54824345	54824345	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr20:54824345C>T	uc002xxb.2	+	1	558	c.446C>T	c.(445-447)GCG>GTG	p.A149V		NM_019888	NP_063941	P41968	MC3R_HUMAN	melanocortin 3 receptor	186	Cytoplasmic (Potential).				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocyte-stimulating hormone receptor activity|neuropeptide binding|protein binding			ovary(2)|breast(2)	4			Colorectal(105;0.202)			ATCTTTTACGCGCTCCGCTAC	0.582												
ZNF831	128611	broad.mit.edu	37	20	57766684	57766684	+	Missense_Mutation	SNP	T	T	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr20:57766684T>A	uc002yan.2	+	1	610	c.610T>A	c.(610-612)TCA>ACA	p.S204T		NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	204						intracellular	nucleic acid binding|zinc ion binding			skin(13)|ovary(1)	14	all_lung(29;0.0085)					CCGGCTGTCCTCAGAGTCCGA	0.677												
PHACTR3	116154	broad.mit.edu	37	20	58348477	58348477	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr20:58348477A>G	uc002yau.2	+	6	1362	c.895A>G	c.(895-897)AGG>GGG	p.R299G	PHACTR3_uc002yat.2_Missense_Mutation_p.R296G|PHACTR3_uc010zzw.1_Missense_Mutation_p.R258G|PHACTR3_uc002yav.2_Missense_Mutation_p.R258G|PHACTR3_uc002yaw.2_Missense_Mutation_p.R258G|PHACTR3_uc002yax.2_Missense_Mutation_p.R188G	NM_080672	NP_542403	Q96KR7	PHAR3_HUMAN	phosphatase and actin regulator 3 isoform 1	299						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)			GGAGCTGCACAGGGCGCTGGC	0.687												
SYCP2	10388	broad.mit.edu	37	20	58457178	58457178	+	Missense_Mutation	SNP	A	A	C			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr20:58457178A>C	uc002yaz.2	-	26	2711	c.2572T>G	c.(2572-2574)TTT>GTT	p.F858V		NM_014258	NP_055073	Q9BX26	SYCP2_HUMAN	synaptonemal complex protein 2	858					cell division|meiotic prophase I|synaptonemal complex assembly		DNA binding			ovary(3)|lung(2)	5	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;1.19e-09)			ACATTAACAAAGGTAGTCTTC	0.199												
SYCP2	10388	broad.mit.edu	37	20	58490556	58490556	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr20:58490556C>T	uc002yaz.2	-	8	702	c.563G>A	c.(562-564)CGG>CAG	p.R188Q	SYCP2_uc010gju.1_Missense_Mutation_p.R89Q	NM_014258	NP_055073	Q9BX26	SYCP2_HUMAN	synaptonemal complex protein 2	188					cell division|meiotic prophase I|synaptonemal complex assembly		DNA binding			ovary(3)|lung(2)	5	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;1.19e-09)			GAGTATTTTCCGGGCATCTTG	0.274												
C20orf177	63939	broad.mit.edu	37	20	58519297	58519297	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr20:58519297C>T	uc002yba.2	+	5	714	c.299C>T	c.(298-300)TCG>TTG	p.S100L	C20orf177_uc010zzx.1_Intron|C20orf177_uc002ybc.2_Missense_Mutation_p.S100L	NM_022106	NP_071389	Q9NTX9	CT177_HUMAN	hypothetical protein LOC63939	100										ovary(2)|breast(1)	3	all_lung(29;0.00693)		BRCA - Breast invasive adenocarcinoma(7;1.22e-08)			CTCTCTGATTCGGAAAGAATT	0.428												
OGFR	11054	broad.mit.edu	37	20	61441914	61441914	+	Silent	SNP	C	C	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr20:61441914C>T	uc002ydj.2	+	5	497	c.462C>T	c.(460-462)GTC>GTT	p.V154V	OGFR_uc002ydk.2_Silent_p.V137V|OGFR_uc002ydl.2_Silent_p.V102V	NM_007346	NP_031372	Q9NZT2	OGFR_HUMAN	opioid growth factor receptor	154					regulation of cell growth	cytoplasm|membrane|nucleus	opioid receptor activity				0	Breast(26;3.65e-08)					TCAGGGAGGTCGAGGTGAGCC	0.622												
PRIC285	85441	broad.mit.edu	37	20	62203577	62203577	+	Silent	SNP	G	G	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr20:62203577G>T	uc002yfm.2	-	2	1054	c.162C>A	c.(160-162)GCC>GCA	p.A54A	PRIC285_uc002yfn.2_Silent_p.A54A	NM_001037335	NP_001032412	Q9BYK8	PR285_HUMAN	PPAR-alpha interacting complex protein 285	54	C2H2-type; atypical.				cellular lipid metabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|helicase activity|ribonuclease activity|RNA binding|transcription coactivator activity|zinc ion binding			central_nervous_system(2)	2	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;1.27e-08)|all cancers(9;7.32e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06)			GGTTCTCGAAGGCCTCCTGAG	0.701												
SLC2A4RG	56731	broad.mit.edu	37	20	62373487	62373487	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr20:62373487C>T	uc002ygq.2	+	5	639	c.584C>T	c.(583-585)CCG>CTG	p.P195L	SLC2A4RG_uc002ygr.2_Missense_Mutation_p.P90L|SLC2A4RG_uc011abj.1_Missense_Mutation_p.P90L|SLC2A4RG_uc002ygs.2_5'UTR|SLC2A4RG_uc002ygt.2_5'UTR	NM_020062	NP_064446	Q9NR83	S2A4R_HUMAN	SLC2A4 regulator	195						cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0	all_cancers(38;1.13e-12)|all_epithelial(29;2.64e-14)|Lung NSC(23;4.79e-10)|all_lung(23;1.7e-09)					CTGCAGAGCCCGGCCCAGGTC	0.677												
OPRL1	4987	broad.mit.edu	37	20	62729726	62729726	+	Silent	SNP	C	C	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr20:62729726C>T	uc002yic.2	+	5	1089	c.687C>T	c.(685-687)CTC>CTT	p.L229L	OPRL1_uc002yid.2_Silent_p.L229L|OPRL1_uc002yif.3_Silent_p.L224L	NM_182647	NP_872588	P41146	OPRX_HUMAN	opiate receptor-like 1	229	Helical; Name=5; (Potential).				elevation of cytosolic calcium ion concentration|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception	integral to plasma membrane	protein binding|X-opioid receptor activity			central_nervous_system(1)|skin(1)	2	all_cancers(38;4.74e-11)|all_epithelial(29;1.33e-12)|Lung NSC(23;3.27e-09)|all_lung(23;1.02e-08)					TCCCCGTGCTCGTCATCTCTG	0.617												
NRIP1	8204	broad.mit.edu	37	21	16339612	16339612	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr21:16339612A>G	uc002yjx.2	-	4	1500	c.902T>C	c.(901-903)ATG>ACG	p.M301T		NM_003489	NP_003480	P48552	NRIP1_HUMAN	nuclear receptor interacting protein 1	301	Repression domain 1.				androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		androgen receptor binding|estrogen receptor binding|glucocorticoid receptor binding|transcription coactivator activity|transcription corepressor activity				0				Epithelial(23;1.19e-05)|all cancers(11;4.64e-05)|COAD - Colon adenocarcinoma(22;0.000232)|Colorectal(24;0.0006)|OV - Ovarian serous cystadenocarcinoma(11;0.00418)|Lung(58;0.199)|LUSC - Lung squamous cell carcinoma(23;0.24)		CAATCTGGCCATAGCAGCAAG	0.443												
MRPL39	54148	broad.mit.edu	37	21	26979736	26979736	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr21:26979736G>A	uc002ylo.2	-	1	66	c.52C>T	c.(52-54)CCC>TCC	p.P18S	MRPL39_uc002yln.2_Missense_Mutation_p.P18S	NM_017446	NP_059142	Q9NYK5	RM39_HUMAN	mitochondrial ribosomal protein L39 isoform a	18						mitochondrial ribosome	nucleotide binding				0						CCGCCACCGGGTGCGACCAGC	0.662											OREG0026146	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
ADAMTS5	11096	broad.mit.edu	37	21	28338229	28338229	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr21:28338229G>A	uc002ymg.2	-	1	1211	c.482C>T	c.(481-483)GCG>GTG	p.A161V		NM_007038	NP_008969	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1	161					proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding			upper_aerodigestive_tract(2)|ovary(1)|pancreas(1)	4						GGTGTAGCGCGCGTGCTTGAC	0.642												
IFNAR2	3455	broad.mit.edu	37	21	34635606	34635606	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr21:34635606C>T	uc002yrd.2	+	9	1677	c.1349C>T	c.(1348-1350)TCG>TTG	p.S450L	IFNAR2_uc002yre.2_Missense_Mutation_p.S450L|IFNAR2_uc002yrf.2_3'UTR|IL10RB_uc002yrh.1_Intron|IL10RB_uc002yri.1_Intron	NM_207585	NP_997468	P48551	INAR2_HUMAN	interferon alpha/beta receptor 2 isoform a	450	Cytoplasmic (Potential).				JAK-STAT cascade|regulation of type I interferon-mediated signaling pathway|response to interferon-alpha|response to virus|type I interferon-mediated signaling pathway	extracellular region|extracellular space|integral to plasma membrane	protein kinase binding|type I interferon binding|type I interferon receptor activity				0					Interferon Alfa-2a, Recombinant(DB00034)|Interferon Alfa-2b, Recombinant(DB00105)|Interferon alfa-n1(DB00011)|Interferon alfa-n3(DB00018)|Interferon alfacon-1(DB00069)|Interferon beta-1b(DB00068)|Peginterferon alfa-2a(DB00008)|Peginterferon alfa-2b(DB00022)	CTGATGCTATCGTCTCATCTG	0.493												
IFNAR1	3454	broad.mit.edu	37	21	34726001	34726001	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr21:34726001C>T	uc002yrn.2	+	10	1499	c.1352C>T	c.(1351-1353)CCG>CTG	p.P451L	IFNAR1_uc011adv.1_Missense_Mutation_p.P382L	NM_000629	NP_000620	P17181	INAR1_HUMAN	interferon-alpha receptor 1 precursor	451	Helical; (Potential).				JAK-STAT cascade|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	integral to plasma membrane	type I interferon receptor activity			central_nervous_system(1)|skin(1)	2					Interferon Alfa-2a, Recombinant(DB00034)|Interferon Alfa-2b, Recombinant(DB00105)|Interferon alfa-n1(DB00011)|Interferon alfa-n3(DB00018)|Interferon alfacon-1(DB00069)|Interferon beta-1b(DB00068)|Peginterferon alfa-2a(DB00008)|Peginterferon alfa-2b(DB00022)	TTTGCTCTCCCGTTTGTCATT	0.318												
DOPEY2	9980	broad.mit.edu	37	21	37583892	37583892	+	Silent	SNP	T	T	C			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr21:37583892T>C	uc002yvg.2	+	6	802	c.723T>C	c.(721-723)CTT>CTC	p.L241L	DOPEY2_uc011aeb.1_Silent_p.L241L	NM_005128	NP_005119	Q9Y3R5	DOP2_HUMAN	pad-1-like	241					endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport	Golgi membrane				ovary(1)|central_nervous_system(1)	2						CAAATGTTCTTGTGCAAAGAA	0.398												
IGSF5	150084	broad.mit.edu	37	21	41151197	41151197	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr21:41151197G>A	uc002yyo.2	+	5	1002	c.899G>A	c.(898-900)TGC>TAC	p.C300Y		NM_001080444	NP_001073913	Q9NSI5	IGSF5_HUMAN	immunoglobulin superfamily 5 like	300	Cytoplasmic (Potential).|Cys-rich.					integral to membrane|tight junction					0		Prostate(19;5.35e-06)				tgcaactgctgctgccgttgt	0.259												
RIPK4	54101	broad.mit.edu	37	21	43161140	43161140	+	Missense_Mutation	SNP	G	G	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr21:43161140G>T	uc002yzn.1	-	8	2261	c.2213C>A	c.(2212-2214)GCG>GAG	p.A738E		NM_020639	NP_065690	P57078	RIPK4_HUMAN	ankyrin repeat domain 3	738						cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			ovary(2)|central_nervous_system(2)|large_intestine(1)|lung(1)|skin(1)	7						CAGGTGCAGCGCGCTGAGCCC	0.687												
COL6A2	1292	broad.mit.edu	37	21	47537842	47537842	+	Missense_Mutation	SNP	G	G	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr21:47537842G>T	uc002zia.1	+	12	1190	c.1108G>T	c.(1108-1110)GGC>TGC	p.G370C	COL6A2_uc002zhy.1_Missense_Mutation_p.G370C|COL6A2_uc002zhz.1_Missense_Mutation_p.G370C|COL6A2_uc002zib.1_Intron	NM_001849	NP_001840	P12110	CO6A2_HUMAN	alpha 2 type VI collagen isoform 2C2 precursor	370	Triple-helical region.				axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging			central_nervous_system(7)|ovary(1)	8	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		AGGAGACCAAGGCGGCAAGGT	0.682												
C21orf56	84221	broad.mit.edu	37	21	47581501	47581501	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr21:47581501G>A	uc011afu.1	-	5	1877	c.815C>T	c.(814-816)CCG>CTG	p.P272L	C21orf56_uc002zii.2_Missense_Mutation_p.P118L	NM_001142854	NP_001136326	Q9H0A9	CU056_HUMAN	hypothetical protein LOC84221 isoform 1	272							protein binding			skin(1)	1	Breast(49;0.214)			Colorectal(79;0.241)		GCTGAACGCCGGGTGCACGTC	0.697												
ARVCF	421	broad.mit.edu	37	22	19965533	19965533	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr22:19965533G>A	uc002zqz.2	-	8	1917	c.1646C>T	c.(1645-1647)GCG>GTG	p.A549V	ARVCF_uc002zqy.2_Missense_Mutation_p.A71V	NM_001670	NP_001661	O00192	ARVC_HUMAN	armadillo repeat protein	549	ARM 5.				cell adhesion|multicellular organismal development		protein binding			liver(1)	1	Colorectal(54;0.0993)					ATGCAGGAGCGCGTCCACCAG	0.657												
PI4KA	5297	broad.mit.edu	37	22	21098990	21098990	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr22:21098990G>A	uc002zsz.3	-	30	3439	c.3208C>T	c.(3208-3210)CGC>TGC	p.R1070C		NM_058004	NP_477352	P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase type 3 alpha	1070					phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission	Golgi-associated vesicle	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding	p.R1070L(1)		lung(2)|upper_aerodigestive_tract(1)|salivary_gland(1)	4	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)			CAGGCCGGGCGCTCGCTCAGC	0.527												
SERPIND1	3053	broad.mit.edu	37	22	21134357	21134357	+	Missense_Mutation	SNP	T	T	G			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr22:21134357T>G	uc002ztb.1	+	2	824	c.757T>G	c.(757-759)TTC>GTC	p.F253V	PI4KA_uc002zsz.3_Intron|SERPIND1_uc002ztc.2_Missense_Mutation_p.F281V	NM_000185	NP_000176	P05546	HEP2_HUMAN	heparin cofactor II precursor	253					blood coagulation|chemotaxis|regulation of proteolysis	extracellular region	heparin binding|serine-type endopeptidase inhibitor activity				0	all_cancers(11;6.16e-25)|all_epithelial(7;1.02e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)		Ardeparin(DB00407)	GATAGCTGACTTCTCAGACCC	0.433												
GAL3ST1	9514	broad.mit.edu	37	22	30951162	30951162	+	Silent	SNP	G	G	A	rs146972531		TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr22:30951162G>A	uc003aig.1	-	4	1190	c.1050C>T	c.(1048-1050)CAC>CAT	p.H350H	GAL3ST1_uc003aih.1_Silent_p.H350H|GAL3ST1_uc003aii.1_Silent_p.H350H|GAL3ST1_uc010gvz.1_Silent_p.H350H	NM_004861	NP_004852	Q99999	G3ST1_HUMAN	galactose-3-O-sulfotransferase 1	350	Lumenal (Potential).				protein N-linked glycosylation	Golgi membrane|integral to plasma membrane|membrane fraction	galactosylceramide sulfotransferase activity				0						CGTCCACGGCGTGGCCCCCGT	0.706												
EIF4ENIF1	56478	broad.mit.edu	37	22	31859740	31859740	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr22:31859740C>T	uc003akz.1	-	5	676	c.512G>A	c.(511-513)CGT>CAT	p.R171H	EIF4ENIF1_uc003ala.1_Missense_Mutation_p.R171H|EIF4ENIF1_uc003alb.1_Intron	NM_019843	NP_062817	Q9NRA8	4ET_HUMAN	eukaryotic translation initiation factor 4E	171	Arg-rich.					nucleus	protein binding|protein transporter activity			ovary(1)	1						ATCGCTAAGACGGTGATCCTT	0.458												
HMOX1	3162	broad.mit.edu	37	22	35783051	35783051	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr22:35783051C>T	uc003ant.1	+	3	598	c.518C>T	c.(517-519)GCC>GTC	p.A173V		NM_002133	NP_002124	P09601	HMOX1_HUMAN	heme oxygenase (decyclizing) 1	173					angiogenesis|anti-apoptosis|cell death|cellular iron ion homeostasis|endothelial cell proliferation|erythrocyte homeostasis|heme catabolic process|heme oxidation|intracellular protein kinase cascade|low-density lipoprotein particle clearance|negative regulation of leukocyte migration|negative regulation of smooth muscle cell proliferation|positive regulation of chemokine biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of smooth muscle cell proliferation|protein homooligomerization|regulation of transcription from RNA polymerase II promoter in response to oxidative stress|response to hydrogen peroxide|response to nicotine|smooth muscle hyperplasia|transmembrane transport|wound healing involved in inflammatory response	endoplasmic reticulum membrane|extracellular space|microsome	enzyme binding|heme binding|heme oxygenase (decyclizing) activity|protein homodimerization activity|signal transducer activity			ovary(1)	1					NADH(DB00157)	CCCAACATTGCCAGTGCCACC	0.602												
APOL2	23780	broad.mit.edu	37	22	36624266	36624266	+	Silent	SNP	C	C	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr22:36624266C>T	uc003aoz.2	-	5	534	c.198G>A	c.(196-198)AAG>AAA	p.K66K	APOL2_uc011amm.1_Silent_p.K178K|APOL2_uc003apa.2_Silent_p.K66K	NM_030882	NP_112092	Q9BQE5	APOL2_HUMAN	apolipoprotein L2	66					acute-phase response|cholesterol metabolic process|lipid transport|lipoprotein metabolic process|maternal process involved in female pregnancy|multicellular organismal development	endoplasmic reticulum membrane|extracellular region	high-density lipoprotein particle binding|lipid binding|receptor binding				0						GGTTTTTGTCCTTCATGACCA	0.463												
MYH9	4627	broad.mit.edu	37	22	36682871	36682871	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr22:36682871G>A	uc003apg.2	-	35	5185	c.4954C>T	c.(4954-4956)CGC>TGC	p.R1652C		NM_002473	NP_002464	P35579	MYH9_HUMAN	myosin, heavy polypeptide 9, non-muscle	1652	Potential.				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						TCCAGCTCGCGCATGCAGTCC	0.627			T	ALK	ALCL		Deafness|autosomal dominant 17|Epstein syndrome|Fechtner syndrome|May-Hegglin anomaly|Sebastian syndrome		Hereditary_Macrothrombocytopenia_MYH9-associated		OREG0026519	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
CSF2RB	1439	broad.mit.edu	37	22	37325725	37325725	+	Silent	SNP	G	G	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr22:37325725G>A	uc003aqa.3	+	6	811	c.594G>A	c.(592-594)GGG>GGA	p.G198G	CSF2RB_uc003aqc.3_Silent_p.G198G	NM_000395	NP_000386	P32927	IL3RB_HUMAN	colony stimulating factor 2 receptor, beta	198	Fibronectin type-III 1.|Extracellular (Potential).				respiratory gaseous exchange	granulocyte macrophage colony-stimulating factor receptor complex	cytokine receptor activity			skin(2)|pancreas(1)	3					Sargramostim(DB00020)	CCACCCTGGGGCCAGAGCACC	0.682												
GCAT	23464	broad.mit.edu	37	22	38212245	38212245	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr22:38212245C>T	uc003atz.2	+	8	1045	c.1025C>T	c.(1024-1026)TCG>TTG	p.S342L	GCAT_uc003aua.1_Missense_Mutation_p.S368L	NM_014291	NP_055106	O75600	KBL_HUMAN	glycine C-acetyltransferase precursor	342					biosynthetic process|cellular amino acid metabolic process		glycine C-acetyltransferase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups				0	Melanoma(58;0.045)				Glycine(DB00145)|Pyridoxal Phosphate(DB00114)	TTCACTATCTCGGGAGCCAGT	0.592												
TAB1	10454	broad.mit.edu	37	22	39826095	39826095	+	Silent	SNP	C	C	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr22:39826095C>A	uc003axt.2	+	11	1432	c.1383C>A	c.(1381-1383)CTC>CTA	p.L461L	TAB1_uc003axr.2_Silent_p.L537L|TAB1_uc011aok.1_Silent_p.L295L|TAB1_uc003axu.1_Intron	NM_006116	NP_006107	Q15750	TAB1_HUMAN	mitogen-activated protein kinase kinase kinase 7	461					activation of MAPK activity|activation of MAPKKK activity|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB 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|endosome membrane	catalytic activity|protein binding			breast(1)	1						ACGGAGGCCTCTTCCGCTCCC	0.647												
SGSM3	27352	broad.mit.edu	37	22	40802507	40802507	+	Silent	SNP	G	G	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr22:40802507G>A	uc003ayu.1	+	10	1235	c.1026G>A	c.(1024-1026)TCG>TCA	p.S342S	SGSM3_uc010gyc.1_3'UTR|SGSM3_uc011aos.1_Silent_p.S275S|SGSM3_uc011aot.1_Silent_p.S279S|SGSM3_uc010gyd.1_Silent_p.S342S	NM_015705	NP_056520	Q96HU1	SGSM3_HUMAN	small G protein signaling modulator 3	342					cell cycle arrest|Rap protein signal transduction	cytoplasm	Rab GTPase activator activity|Rab GTPase binding			ovary(2)	2						ATATCCCGTCGCAGATGGAGG	0.642												
DNAJB7	150353	broad.mit.edu	37	22	41257517	41257517	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr22:41257517C>T	uc003azj.2	-	1	614	c.482G>A	c.(481-483)GGT>GAT	p.G161D	XPNPEP3_uc011aox.1_Intron|XPNPEP3_uc003azh.2_Intron|XPNPEP3_uc003azi.2_Intron|XPNPEP3_uc011aoy.1_5'Flank|XPNPEP3_uc003azg.1_Intron|XPNPEP3_uc003azf.1_Intron|XPNPEP3_uc010gyh.1_5'Flank	NM_145174	NP_660157	Q7Z6W7	DNJB7_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 7	161					protein folding		heat shock protein binding|unfolded protein binding			ovary(1)	1						CCCCAATGAACCCTGTGATGT	0.383												
EFCAB6	64800	broad.mit.edu	37	22	43926824	43926824	+	Silent	SNP	C	C	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr22:43926824C>T	uc003bdy.1	-	31	4469	c.4254G>A	c.(4252-4254)ACG>ACA	p.T1418T	EFCAB6_uc003bdz.1_Silent_p.T1266T|EFCAB6_uc010gzi.1_Silent_p.T1266T	NM_022785	NP_073622	Q5THR3	EFCB6_HUMAN	CAP-binding protein complex interacting protein	1418	Interaction with AR.|Interaction with PARK7.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding			ovary(3)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	7		Ovarian(80;0.0247)|all_neural(38;0.025)				AAAAAGATGGCGTCTCCGCGC	0.483												
FBLN1	2192	broad.mit.edu	37	22	45996204	45996204	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr22:45996204C>T	uc003bgj.1	+	17	2137	c.1990C>T	c.(1990-1992)CGG>TGG	p.R664W	FBLN1_uc003bgk.1_RNA	NM_006486	NP_006477	P23142	FBLN1_HUMAN	fibulin 1 isoform D	664					interspecies interaction between organisms	extracellular space|soluble fraction	calcium ion binding|extracellular matrix structural constituent|protein binding			ovary(1)|central_nervous_system(1)	2		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		GCGCCAGGTGCGGCCCATCGT	0.557												
TBC1D22A	25771	broad.mit.edu	37	22	47193446	47193446	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr22:47193446C>T	uc003bib.2	+	4	701	c.566C>T	c.(565-567)GCG>GTG	p.A189V	TBC1D22A_uc010haf.2_Missense_Mutation_p.A159V|TBC1D22A_uc003bic.2_Intron|TBC1D22A_uc003bie.2_Intron|TBC1D22A_uc003bid.2_RNA|TBC1D22A_uc010hag.2_RNA|TBC1D22A_uc003bif.2_Missense_Mutation_p.A142V	NM_014346	NP_055161	Q8WUA7	TB22A_HUMAN	TBC1 domain family, member 22A	189						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)		AGCAGCTCAGCGCTGAGCGAA	0.652											OREG0026659	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
ZBED4	9889	broad.mit.edu	37	22	50279870	50279870	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr22:50279870C>T	uc003bix.2	+	2	3030	c.2560C>T	c.(2560-2562)CGG>TGG	p.R854W		NM_014838	NP_055653	O75132	ZBED4_HUMAN	zinc finger, BED-type containing 4	854						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)		GAGCCTCGCCCGGAAGATCTG	0.627												
MLC1	23209	broad.mit.edu	37	22	50523291	50523291	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr22:50523291C>T	uc003bjg.1	-	2	314	c.41G>A	c.(40-42)CGG>CAG	p.R14Q	MLC1_uc011arl.1_Missense_Mutation_p.R14Q|MLC1_uc003bjh.1_Missense_Mutation_p.R14Q|MLC1_uc011arm.1_Missense_Mutation_p.R14Q|MLC1_uc011arn.1_Intron|MLC1_uc011aro.1_Missense_Mutation_p.R14Q	NM_139202	NP_631941	Q15049	MLC1_HUMAN	megalencephalic leukoencephalopathy with	14						basolateral plasma membrane|endosome|integral to membrane|integral to membrane of membrane fraction	ion channel activity			pancreas(1)	1		all_cancers(38;7.69e-11)|all_epithelial(38;9.52e-10)|all_lung(38;3.67e-05)|Breast(42;0.000776)|Lung NSC(38;0.000946)|Ovarian(80;0.0365)|Lung SC(80;0.113)		READ - Rectum adenocarcinoma(2;0.000669)|Colorectal(2;0.00242)|LUAD - Lung adenocarcinoma(64;0.0695)|BRCA - Breast invasive adenocarcinoma(115;0.216)		CGTGGGCATCCGGTCATAGGC	0.627												
MOV10L1	54456	broad.mit.edu	37	22	50591566	50591566	+	Silent	SNP	G	G	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr22:50591566G>A	uc003bjj.2	+	22	3068	c.2985G>A	c.(2983-2985)GCG>GCA	p.A995A	MOV10L1_uc003bjk.3_Silent_p.A995A|MOV10L1_uc011arp.1_Silent_p.A975A|MOV10L1_uc003bjl.2_Silent_p.A122A|MOV10L1_uc003bjm.1_Silent_p.A38A	NM_018995	NP_061868	Q9BXT6	M10L1_HUMAN	MOV10-like 1 isoform 1	995					germ cell development|multicellular organismal development|spermatogenesis		ATP binding|ATP-dependent RNA helicase activity|magnesium ion binding|RNA binding			ovary(2)|skin(1)	3		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)		AGGTCTGTGCGGACCCCACAG	0.582												
TUBGCP6	85378	broad.mit.edu	37	22	50656171	50656171	+	Silent	SNP	G	G	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr22:50656171G>A	uc003bkb.1	-	25	5966	c.5454C>T	c.(5452-5454)GAC>GAT	p.D1818D	TUBGCP6_uc003bka.1_Silent_p.D888D|TUBGCP6_uc010har.1_Silent_p.D1810D|TUBGCP6_uc010has.1_RNA	NM_020461	NP_065194	Q96RT7	GCP6_HUMAN	tubulin, gamma complex associated protein 6	1818					G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding			ovary(2)|central_nervous_system(2)	4		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)		AGCCTCAGGCGTCCTGGTAGT	0.622												
BRPF1	7862	broad.mit.edu	37	3	9776150	9776150	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr3:9776150G>A	uc003bse.2	+	2	725	c.326G>A	c.(325-327)CGC>CAC	p.R109H	BRPF1_uc003bsf.2_Missense_Mutation_p.R109H|BRPF1_uc003bsg.2_Missense_Mutation_p.R109H|BRPF1_uc011ati.1_Missense_Mutation_p.R109H	NM_004634	NP_004625	P55201	BRPF1_HUMAN	bromodomain and PHD finger-containing protein 1	109	Interaction with MYST3 and MYST4.				histone H3 acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|MOZ/MORF histone acetyltransferase complex|plasma membrane	DNA binding|zinc ion binding			ovary(2)|central_nervous_system(1)	3	Medulloblastoma(99;0.227)					CGCGTCCACCGCATCAGCATC	0.602												
FANCD2	2177	broad.mit.edu	37	3	10130535	10130535	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr3:10130535G>A	uc003buw.2	+	36	3662	c.3584G>A	c.(3583-3585)AGC>AAC	p.S1195N	FANCD2_uc003bux.1_Missense_Mutation_p.S1195N|FANCD2_uc003buy.1_Missense_Mutation_p.S1195N|FANCD2_uc010hcw.1_RNA|C3orf24_uc003buz.2_Intron	NM_033084	NP_149075	Q9BXW9	FACD2_HUMAN	Fanconi anemia complementation group D2 isoform	1195					DNA repair|response to gamma radiation	nucleoplasm	protein binding|protein binding			central_nervous_system(2)|ovary(1)|skin(1)	4				OV - Ovarian serous cystadenocarcinoma(96;0.148)		CACACAGAGAGCATTCTGAAG	0.433			D|Mis|N|F			AML|leukemia		Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi_Anemia			
CAPN7	23473	broad.mit.edu	37	3	15288865	15288865	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr3:15288865G>A	uc003bzn.2	+	19	2375	c.2105G>A	c.(2104-2106)GGA>GAA	p.G702E		NM_014296	NP_055111	Q9Y6W3	CAN7_HUMAN	calpain 7	702	Domain N.				proteolysis	nucleus	calcium-dependent cysteine-type endopeptidase activity			ovary(1)	1						CAGAGTGCTGGAGGATGTGGA	0.368												
GALNTL2	117248	broad.mit.edu	37	3	16217107	16217107	+	Missense_Mutation	SNP	C	C	T	rs145670083	byFrequency	TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr3:16217107C>T	uc003car.3	+	1	924	c.449C>T	c.(448-450)ACC>ATC	p.T150I	GALNTL2_uc003caq.3_Intron	NM_054110	NP_473451	Q8N3T1	GLTL2_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide	150	Lumenal (Potential).					Golgi membrane|integral to membrane|transport vesicle	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(1)	1						GAGGAGTTGACCCCGTTCAGC	0.632												
TBC1D5	9779	broad.mit.edu	37	3	17202725	17202725	+	Silent	SNP	G	G	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr3:17202725G>A	uc003cbf.2	-	22	3783	c.2118C>T	c.(2116-2118)TGC>TGT	p.C706C	TBC1D5_uc010heu.2_Silent_p.C293C|TBC1D5_uc010hev.2_Silent_p.C728C|TBC1D5_uc003cbe.2_Silent_p.C706C	NM_014744	NP_055559	Q92609	TBCD5_HUMAN	TBC1 domain family, member 5 isoform b	706						intracellular	protein binding|Rab GTPase activator activity			ovary(1)	1						CTCTATCAGTGCACCCTGGCG	0.527												
SATB1	6304	broad.mit.edu	37	3	18457551	18457551	+	Missense_Mutation	SNP	C	C	G			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr3:18457551C>G	uc003cbh.2	-	4	2198	c.463G>C	c.(463-465)GAT>CAT	p.D155H	SATB1_uc003cbi.2_Missense_Mutation_p.D155H|SATB1_uc003cbj.2_Missense_Mutation_p.D155H	NM_002971	NP_002962	Q01826	SATB1_HUMAN	special AT-rich sequence binding protein 1	155	PDZ-like dimerization domain.				cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter	nuclear matrix|PML body	double-stranded DNA binding|sequence-specific DNA binding			skin(2)|ovary(1)|lung(1)	4						TGAAGCATATCTGCTACTGTA	0.418												
CLASP2	23122	broad.mit.edu	37	3	33576740	33576740	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr3:33576740C>T	uc003cfu.2	-	33	4126	c.3772G>A	c.(3772-3774)GAC>AAC	p.D1258N	CLASP2_uc003cfs.2_Missense_Mutation_p.D465N|CLASP2_uc003cft.2_RNA|CLASP2_uc010hgb.2_RNA|CLASP2_uc011axt.1_Missense_Mutation_p.D858N	NM_015097	NP_055912	B2RTR1	B2RTR1_HUMAN	CLIP-associating protein 2	1267										ovary(3)|central_nervous_system(1)	4						GGAAACTGGTCAGCATCATCA	0.408												
LRRFIP2	9209	broad.mit.edu	37	3	37114363	37114363	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr3:37114363C>T	uc003cgp.2	-	22	1805	c.1382G>A	c.(1381-1383)CGC>CAC	p.R461H	LRRFIP2_uc011ayf.1_Missense_Mutation_p.R277H|LRRFIP2_uc003cgr.2_Intron|LRRFIP2_uc003cgs.3_Intron|LRRFIP2_uc003cgt.3_Intron	NM_006309	NP_006300	Q9Y608	LRRF2_HUMAN	leucine rich repeat (in FLII) interacting	461	Potential.				Wnt receptor signaling pathway		LRR domain binding			ovary(1)	1						CTGCTGCATGCGCTGCTTCTC	0.418												
ACVR2B	93	broad.mit.edu	37	3	38524697	38524697	+	Silent	SNP	G	G	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr3:38524697G>A	uc003cif.2	+	11	1437	c.1413G>A	c.(1411-1413)GCG>GCA	p.A471A	ACVR2B_uc003cig.2_Silent_p.A262A	NM_001106	NP_001097	Q13705	AVR2B_HUMAN	activin A receptor, type IIB precursor	471	Cytoplasmic (Potential).|Protein kinase.				activin receptor signaling pathway|anterior/posterior pattern formation|BMP signaling pathway|positive regulation of activin receptor signaling pathway|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|regulation of transcription, DNA-dependent	cell surface|cytoplasm|integral to plasma membrane	activin receptor activity|ATP binding|growth factor binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|transforming growth factor beta receptor activity			lung(1)	1	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0565)|Kidney(284;0.071)		GCTTGTCCGCGGGCTGTGTGG	0.607												
KBTBD5	131377	broad.mit.edu	37	3	42728053	42728053	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr3:42728053T>C	uc003clv.1	+	1	1043	c.943T>C	c.(943-945)TTC>CTC	p.F315L		NM_152393	NP_689606	Q2TBA0	KBTB5_HUMAN	kelch repeat and BTB (POZ) domain containing 5	315										ovary(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.214)		CTTCGGCATGTTCCTGCAGGA	0.572												
CCR3	1232	broad.mit.edu	37	3	46307386	46307386	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr3:46307386C>T	uc003cpg.1	+	4	1280	c.737C>T	c.(736-738)GCG>GTG	p.A246V	CCR3_uc003cpi.1_Missense_Mutation_p.A246V|CCR3_uc003cpj.1_Missense_Mutation_p.A246V|CCR3_uc003cpk.1_Missense_Mutation_p.A267V|CCR3_uc010hjb.1_Missense_Mutation_p.A264V|CCR3_uc003cpl.1_Missense_Mutation_p.A279V	NM_178329	NP_847899	P51677	CCR3_HUMAN	CC chemokine receptor 3 isoform 1	246	Helical; Name=6; (Potential).				cell adhesion|cellular defense response|chemotaxis|elevation of cytosolic calcium ion concentration|G-protein signaling, coupled to cAMP nucleotide second messenger|inflammatory response|interspecies interaction between organisms|positive regulation of angiogenesis	integral to plasma membrane				ovary(3)|lung(3)|breast(1)|kidney(1)	8				BRCA - Breast invasive adenocarcinoma(193;0.00119)|KIRC - Kidney renal clear cell carcinoma(197;0.0183)|Kidney(197;0.0216)		GTCATCATGGCGGTGTTTTTC	0.453												
LTF	4057	broad.mit.edu	37	3	46490404	46490404	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr3:46490404C>T	uc003cpq.2	-	9	1200	c.1162G>A	c.(1162-1164)GTG>ATG	p.V388M	LTF_uc003fzr.2_Missense_Mutation_p.V344M|LTF_uc010hjh.2_Missense_Mutation_p.V388M|LTF_uc003cpr.2_Missense_Mutation_p.V375M	NM_002343	NP_002334	P02788	TRFL_HUMAN	lactotransferrin precursor	388	Transferrin-like 2.				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	p.V388E(1)		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)	GAGCAGGTCACGCTGCCTTCG	0.682												
RTP3	83597	broad.mit.edu	37	3	46539601	46539601	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr3:46539601C>T	uc003cps.1	+	1	117	c.49C>T	c.(49-51)CGG>TGG	p.R17W		NM_031440	NP_113628	Q9BQQ7	RTP3_HUMAN	transmembrane protein 7	17	Cytoplasmic (Potential).				detection of chemical stimulus involved in sensory perception of bitter taste|protein targeting to membrane	cytoplasm|integral to membrane	protein binding			ovary(2)	2				BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0173)|Kidney(197;0.0204)		GGAGTTAATGCGGGAGGTGAA	0.587												
SHISA5	51246	broad.mit.edu	37	3	48510933	48510933	+	Missense_Mutation	SNP	G	G	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr3:48510933G>T	uc003ctp.1	-	5	604	c.470C>A	c.(469-471)GCC>GAC	p.A157D	SHISA5_uc003ctn.1_Nonsense_Mutation_p.C25*|SHISA5_uc003ctm.1_Missense_Mutation_p.A54D|SHISA5_uc011bbk.1_Nonsense_Mutation_p.C65*|SHISA5_uc003cto.1_Missense_Mutation_p.A126D|SHISA5_uc003ctq.1_Missense_Mutation_p.A150D|SHISA5_uc003ctr.1_Missense_Mutation_p.A126D|SHISA5_uc003cts.1_Missense_Mutation_p.A126D|SHISA5_uc003ctt.2_Missense_Mutation_p.A54D|SHISA5_uc003ctu.1_RNA|SHISA5_uc011bbl.1_Missense_Mutation_p.A55D	NM_016479	NP_057563	Q8N114	SHSA5_HUMAN	scotin precursor	157	Cytoplasmic (Potential).				apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade	endoplasmic reticulum membrane|integral to membrane|nuclear membrane	signal transducer activity|WW domain binding				0						AGGATAAGGGGCATGCACCAC	0.612												
COL7A1	1294	broad.mit.edu	37	3	48613062	48613062	+	Missense_Mutation	SNP	C	C	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr3:48613062C>A	uc003ctz.2	-	72	5977	c.5976G>T	c.(5974-5976)AAG>AAT	p.K1992N		NM_000094	NP_000085	Q02388	CO7A1_HUMAN	alpha 1 type VII collagen precursor	1992	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)		TGCTCACCTCCTTGCCTGGGG	0.647												
IP6K2	51447	broad.mit.edu	37	3	48725986	48725986	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr3:48725986A>G	uc003cup.2	-	6	1245	c.1001T>C	c.(1000-1002)ATT>ACT	p.I334T	NCKIPSD_uc003cum.2_5'Flank|NCKIPSD_uc003cun.2_5'Flank|NCKIPSD_uc010hkh.1_5'Flank|IP6K2_uc003cuq.2_Missense_Mutation_p.I334T	NM_001005909	NP_001005909	Q9UHH9	IP6K2_HUMAN	inositol hexaphosphate kinase 2 isoform a	334					negative regulation of cell growth|phosphatidylinositol phosphorylation|positive regulation of apoptosis|type I interferon-mediated signaling pathway	intermediate filament cytoskeleton|nucleus	ATP binding|inositol hexakisphosphate 5-kinase activity|inositol trisphosphate 3-kinase activity				0						GCCATCATAAATGACCAGCAG	0.557												
DAG1	1605	broad.mit.edu	37	3	49569667	49569667	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr3:49569667T>C	uc003cxc.3	+	3	2141	c.1723T>C	c.(1723-1725)TAT>CAT	p.Y575H		NM_004393	NP_004384	Q14118	DAG1_HUMAN	dystroglycan 1 preproprotein	575	Peptidase S72.				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)		CAAACACGAGTATTTCATGCA	0.602												
RBM6	10180	broad.mit.edu	37	3	50103840	50103840	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr3:50103840A>G	uc003cyc.2	+	17	2981	c.2848A>G	c.(2848-2850)ACT>GCT	p.T950A	RBM6_uc010hlc.1_3'UTR|RBM6_uc003cyd.2_Missense_Mutation_p.T428A|RBM6_uc003cye.2_Missense_Mutation_p.T428A|RBM6_uc011bdi.1_Missense_Mutation_p.T292A|RBM6_uc010hld.1_RNA|RBM6_uc010hle.1_RNA|RBM6_uc010hlf.1_RNA	NM_005777	NP_005768	P78332	RBM6_HUMAN	RNA binding motif protein 6	950					RNA processing	nucleus	DNA binding|nucleotide binding|RNA binding|zinc ion binding			ovary(2)	2				BRCA - Breast invasive adenocarcinoma(193;6.81e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0084)|Kidney(197;0.00977)		AGACAAACTCACTGACTGGAA	0.507												
FAM116A	201627	broad.mit.edu	37	3	57614584	57614584	+	Missense_Mutation	SNP	G	G	C			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr3:57614584G>C	uc003dja.2	-	19	1720	c.1649C>G	c.(1648-1650)ACA>AGA	p.T550R		NM_152678	NP_689891	Q8IWF6	F116A_HUMAN	hypothetical protein LOC201627	550										pancreas(1)	1				BRCA - Breast invasive adenocarcinoma(55;0.000621)|KIRC - Kidney renal clear cell carcinoma(284;0.0485)|Kidney(284;0.0607)		TTCTACTTCTGTGTGTTTCTG	0.338												
SLMAP	7871	broad.mit.edu	37	3	57743471	57743471	+	Silent	SNP	C	C	T	rs144914455	by1000genomes	TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr3:57743471C>T	uc003dje.1	+	1	298	c.93C>T	c.(91-93)GGC>GGT	p.G31G	SLMAP_uc003djc.1_Silent_p.G31G|SLMAP_uc003djd.1_Silent_p.G31G|SLMAP_uc003djf.1_Silent_p.G31G	NM_007159	NP_009090	Q14BN4	SLMAP_HUMAN	sarcolemma associated protein	31	Necessary for targeting to centrosomes (By similarity).|Cytoplasmic (Potential).|FHA.				muscle contraction|protein folding	integral to plasma membrane|microtubule organizing center|prefoldin complex|sarcolemma|smooth endoplasmic reticulum	unfolded protein binding				0				BRCA - Breast invasive adenocarcinoma(55;0.000271)|KIRC - Kidney renal clear cell carcinoma(284;0.0602)|Kidney(284;0.0754)|OV - Ovarian serous cystadenocarcinoma(275;0.182)		TCAAAATCGGCCGCTCAGTGG	0.557												
SLMAP	7871	broad.mit.edu	37	3	57913085	57913085	+	Silent	SNP	C	C	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr3:57913085C>T	uc003dje.1	+	22	2662	c.2457C>T	c.(2455-2457)TAC>TAT	p.Y819Y	SLMAP_uc003djd.1_Silent_p.Y802Y|SLMAP_uc003djf.1_Silent_p.Y781Y|SLMAP_uc003djg.1_3'UTR|SLMAP_uc011bez.1_Silent_p.Y287Y|SLMAP_uc011bfa.1_Silent_p.Y353Y|SLMAP_uc003dji.1_3'UTR|SLMAP_uc011bfb.1_Silent_p.Y353Y|SLMAP_uc011bfc.1_3'UTR	NM_007159	NP_009090	Q14BN4	SLMAP_HUMAN	sarcolemma associated protein	819	Helical; Anchor for type IV membrane protein; (Potential).				muscle contraction|protein folding	integral to plasma membrane|microtubule organizing center|prefoldin complex|sarcolemma|smooth endoplasmic reticulum	unfolded protein binding				0				BRCA - Breast invasive adenocarcinoma(55;0.000271)|KIRC - Kidney renal clear cell carcinoma(284;0.0602)|Kidney(284;0.0754)|OV - Ovarian serous cystadenocarcinoma(275;0.182)		TCGTGCTGTACGTGCCAGGTC	0.542												
MAGI1	9223	broad.mit.edu	37	3	65342204	65342204	+	Missense_Mutation	SNP	C	C	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr3:65342204C>A	uc003dmn.2	-	23	4764	c.4238G>T	c.(4237-4239)CGG>CTG	p.R1413L	MAGI1_uc003dmm.2_3'UTR	NM_001033057	NP_001028229	Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ	1442					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)		GTCCAGGGACCGCTCTCTCCT	0.667												
MAGI1	9223	broad.mit.edu	37	3	65342235	65342235	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr3:65342235G>A	uc003dmn.2	-	23	4733	c.4207C>T	c.(4207-4209)CGC>TGC	p.R1403C	MAGI1_uc003dmm.2_3'UTR	NM_001033057	NP_001028229	Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ	1432					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)		GAGCGTGCGCGCCTCCGGTCG	0.667												
MAGI1	9223	broad.mit.edu	37	3	65456114	65456114	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr3:65456114A>G	uc003dmn.2	-	5	1329	c.803T>C	c.(802-804)TTA>TCA	p.L268S	MAGI1_uc003dmm.2_Missense_Mutation_p.L268S|MAGI1_uc003dmo.2_Missense_Mutation_p.L268S|MAGI1_uc003dmp.2_Missense_Mutation_p.L268S|MAGI1_uc010hny.2_Missense_Mutation_p.L153S|MAGI1_uc003dmr.2_Missense_Mutation_p.L269S	NM_001033057	NP_001028229	Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ	268	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)		CACAGGTGGTAATGCTGTTTC	0.448												
UBA3	9039	broad.mit.edu	37	3	69105035	69105035	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr3:69105035G>A	uc003dno.2	-	17	1290	c.1270C>T	c.(1270-1272)CGA>TGA	p.R424*	UBA3_uc003dnq.2_Nonsense_Mutation_p.R410*|UBA3_uc011bfy.1_Nonsense_Mutation_p.R247*|UBA3_uc011bfz.1_Nonsense_Mutation_p.R247*	NM_003968	NP_003959	Q8TBC4	UBA3_HUMAN	ubiquitin-activating enzyme 3 isoform 1	424	Interaction with UBE2M core domain.			R->A: No effect on NEDD8 transfer to UBE2M.	protein neddylation|proteolysis	nucleus	acid-amino acid ligase activity|ATP binding|protein heterodimerization activity			ovary(1)	1		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;7.98e-05)|Epithelial(33;0.000363)|LUSC - Lung squamous cell carcinoma(21;0.012)|Lung(16;0.0191)|KIRC - Kidney renal clear cell carcinoma(39;0.206)|Kidney(39;0.241)		GGCCTTGTTCGTTCTTCAATA	0.264												
FOXP1	27086	broad.mit.edu	37	3	71090486	71090486	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr3:71090486T>C	uc003dol.2	-	7	1185	c.862A>G	c.(862-864)AGG>GGG	p.R288G	FOXP1_uc003dom.2_Missense_Mutation_p.R212G|FOXP1_uc003don.2_RNA|FOXP1_uc003doo.2_Missense_Mutation_p.R288G|FOXP1_uc003dop.2_Missense_Mutation_p.R288G|FOXP1_uc003doq.1_Missense_Mutation_p.R287G|FOXP1_uc003doi.2_Missense_Mutation_p.R188G|FOXP1_uc003doj.2_Missense_Mutation_p.R188G|FOXP1_uc003dok.2_Missense_Mutation_p.R101G|FOXP1_uc003dor.1_Missense_Mutation_p.R66G	NM_032682	NP_116071	Q9H334	FOXP1_HUMAN	forkhead box P1 isoform 1	288					cardiac muscle cell differentiation|embryo development|immunoglobulin V(D)J recombination|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of immunoglobulin production|positive regulation of mesenchymal cell proliferation|pre-B cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|skeletal muscle tissue development|smooth muscle tissue development	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|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|zinc ion binding			ovary(1)|lung(1)	2		Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209)		BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05)		TACCTTTCCCTTTTGGGAGTG	0.517			T	PAX5	ALL							
ARL13B	200894	broad.mit.edu	37	3	93755579	93755579	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr3:93755579C>T	uc003drc.2	+	5	956	c.670C>T	c.(670-672)CGA>TGA	p.R224*	ARL13B_uc010hop.2_Nonsense_Mutation_p.R75*|ARL13B_uc003drd.2_Nonsense_Mutation_p.R117*|ARL13B_uc003dre.2_Nonsense_Mutation_p.R209*|ARL13B_uc003drf.2_Nonsense_Mutation_p.R224*|ARL13B_uc003drg.2_Nonsense_Mutation_p.R121*	NM_182896	NP_878899	Q3SXY8	AR13B_HUMAN	ADP-ribosylation factor-like 2-like 1 isoform 1	224	Potential.						GTP binding				0						TGAACGAGTGCGAAAATTACG	0.363												
OR5H14	403273	broad.mit.edu	37	3	97868368	97868368	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr3:97868368G>A	uc003dsg.1	+	1	139	c.139G>A	c.(139-141)GCT>ACT	p.A47T		NM_001005514	NP_001005514	A6NHG9	O5H14_HUMAN	olfactory receptor, family 5, subfamily H,	47	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1						TGGTCTGATTGCTGTCATCTG	0.408												
CBLB	868	broad.mit.edu	37	3	105377982	105377982	+	Silent	SNP	C	C	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr3:105377982C>T	uc003dwc.2	-	19	3103	c.2781G>A	c.(2779-2781)GCG>GCA	p.A927A	CBLB_uc003dwa.2_Silent_p.A142A|CBLB_uc011bhi.1_Silent_p.A905A	NM_170662	NP_733762	Q13191	CBLB_HUMAN	Cas-Br-M (murine) ecotropic retroviral	927	Interaction with SH3KBP1.				cell surface receptor linked signaling pathway|NLS-bearing substrate import into nucleus	cytoplasm|nucleus	calcium ion binding|ligase activity|signal transducer activity|zinc ion binding			lung(4)|ovary(3)|breast(1)|skin(1)	9						TTTCCAATGCCGCCTCAGGCC	0.507			Mis S		AML							
ZBTB20	26137	broad.mit.edu	37	3	114070106	114070106	+	Silent	SNP	C	C	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr3:114070106C>T	uc003ebi.2	-	4	999	c.819G>A	c.(817-819)GCG>GCA	p.A273A	ZBTB20_uc003ebj.2_Silent_p.A200A|ZBTB20_uc010hqp.2_Silent_p.A200A|ZBTB20_uc003ebk.2_Silent_p.A200A|ZBTB20_uc003ebl.2_Silent_p.A200A|ZBTB20_uc003ebm.2_Silent_p.A200A|ZBTB20_uc003ebn.2_Silent_p.A200A|uc003ebo.1_5'Flank	NM_015642	NP_056457	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20 isoform	273					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(4)|skin(1)	5				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		GCAGGCCGAGCGCAGTCTCGT	0.642												
ARHGAP31	57514	broad.mit.edu	37	3	119121138	119121138	+	Silent	SNP	G	G	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr3:119121138G>A	uc003ecj.3	+	10	2071	c.1539G>A	c.(1537-1539)CCG>CCA	p.P513P		NM_020754	NP_065805	Q2M1Z3	RHG31_HUMAN	Cdc42 GTPase-activating protein	513					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion|lamellipodium	GTPase activator activity			ovary(2)	2						GAACACCCCCGAAGGAGCTGC	0.582												
GSK3B	2932	broad.mit.edu	37	3	119634950	119634950	+	Silent	SNP	T	T	C			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr3:119634950T>C	uc003edo.2	-	5	1532	c.549A>G	c.(547-549)AAA>AAG	p.K183K	GSK3B_uc003edn.2_Silent_p.K183K	NM_001146156	NP_001139628	P49841	GSK3B_HUMAN	glycogen synthase kinase 3 beta isoform 2	183	Protein kinase.				axon guidance|epithelial to mesenchymal transition|ER overload response|glycogen metabolic process|hippocampus development|negative regulation of apoptosis|negative regulation of protein binding|negative regulation of protein complex assembly|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|positive regulation of cell-matrix adhesion|positive regulation of protein complex assembly|positive regulation of protein export from nucleus|positive regulation of Rac GTPase activity|regulation of microtubule-based process|superior temporal gyrus development	Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|nucleus|plasma membrane	ATP binding|beta-catenin binding|NF-kappaB binding|p53 binding|protein kinase A catalytic subunit binding|protein serine/threonine kinase activity|RNA polymerase II transcription factor binding|tau-protein kinase activity|ubiquitin protein ligase binding			lung(2)	2				GBM - Glioblastoma multiforme(114;0.24)	Lithium(DB01356)	GGTTCTGCGGTTTAATATCCC	0.413												
EAF2	55840	broad.mit.edu	37	3	121575886	121575886	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr3:121575886C>T	uc003een.2	+	4	466	c.367C>T	c.(367-369)CGT>TGT	p.R123C	EAF2_uc003eeo.2_5'UTR	NM_018456	NP_060926	Q96CJ1	EAF2_HUMAN	ELL associated factor 2	123					apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck	protein binding				0				GBM - Glioblastoma multiforme(114;0.0972)		AATTCAGTATCGTAAAGAACA	0.348												
SLC15A2	6565	broad.mit.edu	37	3	121648151	121648151	+	Silent	SNP	A	A	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr3:121648151A>T	uc003eep.2	+	17	1662	c.1509A>T	c.(1507-1509)GTA>GTT	p.V503V	SLC15A2_uc011bjn.1_Silent_p.V472V	NM_021082	NP_066568	Q16348	S15A2_HUMAN	peptide transporter 2 isoform a	503					protein transport	integral to plasma membrane	peptide:hydrogen symporter activity|protein binding			skin(1)	1				GBM - Glioblastoma multiforme(114;0.0967)	Cefadroxil(DB01140)	TGTTGTAGGTAAAGGATACAG	0.388												
ADCY5	111	broad.mit.edu	37	3	123166294	123166294	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr3:123166294G>A	uc003egh.1	-	1	1099	c.1099C>T	c.(1099-1101)CGC>TGC	p.R367C		NM_183357	NP_899200	O95622	ADCY5_HUMAN	adenylate cyclase 5	367					activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			ovary(4)	4				GBM - Glioblastoma multiforme(114;0.0342)		GCGTTGGTGCGCAGGGCGATG	0.677												
RUVBL1	8607	broad.mit.edu	37	3	127816251	127816251	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr3:127816251T>C	uc003ekh.2	-	8	1012	c.908A>G	c.(907-909)GAG>GGG	p.E303G	RUVBL1_uc003eke.2_Missense_Mutation_p.E44G|RUVBL1_uc003ekf.2_Missense_Mutation_p.E243G|RUVBL1_uc010hss.2_Missense_Mutation_p.E303G	NM_003707	NP_003698	Q9Y265	RUVB1_HUMAN	RuvB-like 1	303					cell division|CenH3-containing nucleosome assembly at centromere|DNA recombination|DNA repair|histone H2A acetylation|histone H4 acetylation|mitosis|regulation of growth|regulation of transcription from RNA polymerase II promoter|spermatogenesis|transcription, DNA-dependent	Golgi apparatus|Ino80 complex|membrane|microtubule organizing center|MLL1 complex|NuA4 histone acetyltransferase complex|nuclear matrix	ATP binding|DNA helicase activity|protein binding			skin(1)	1				GBM - Glioblastoma multiforme(114;0.181)		CATGTGGACCTCATCAACAAA	0.527												
IFT122	55764	broad.mit.edu	37	3	129211008	129211008	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr3:129211008C>T	uc003emm.2	+	17	2223	c.2017C>T	c.(2017-2019)CGA>TGA	p.R673*	IFT122_uc003eml.2_Nonsense_Mutation_p.R724*|IFT122_uc003emn.2_Nonsense_Mutation_p.R614*|IFT122_uc003emo.2_Nonsense_Mutation_p.R562*|IFT122_uc003emp.2_Nonsense_Mutation_p.R523*|IFT122_uc010htc.2_Nonsense_Mutation_p.R665*|IFT122_uc011bky.1_Nonsense_Mutation_p.R464*|IFT122_uc003emq.2_Nonsense_Mutation_p.R513*|IFT122_uc003emr.2_Intron|IFT122_uc011bla.1_Intron|IFT122_uc010hte.2_Nonsense_Mutation_p.R53*|IFT122_uc003ems.2_Intron|IFT122_uc011bkx.1_Nonsense_Mutation_p.R513*|IFT122_uc010htd.1_Nonsense_Mutation_p.R152*	NM_052989	NP_443715	Q9HBG6	IF122_HUMAN	WD repeat domain 10 isoform 2	673					camera-type eye morphogenesis|cilium morphogenesis|embryonic body morphogenesis|embryonic heart tube development|limb development|neural tube closure	microtubule basal body|photoreceptor connecting cilium				ovary(1)|skin(1)	2						ACAAGACCTCCGATATTTAGA	0.443												
ASTE1	28990	broad.mit.edu	37	3	130743090	130743090	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr3:130743090G>A	uc003env.1	-	3	1503	c.1061C>T	c.(1060-1062)CCC>CTC	p.P354L	NEK11_uc003enx.2_5'Flank|NEK11_uc003eny.2_5'Flank|NEK11_uc003eoa.2_5'Flank|NEK11_uc003enz.2_5'Flank|NEK11_uc010htn.2_5'Flank|NEK11_uc011blk.1_5'Flank|NEK11_uc011bll.1_5'Flank|NEK11_uc003enw.1_5'Flank|NEK11_uc011blm.1_5'Flank|ASTE1_uc010htm.1_Missense_Mutation_p.P354L|ASTE1_uc011blj.1_RNA	NM_014065	NP_054784	Q2TB18	ASTE1_HUMAN	asteroid homolog 1	354				ILP -> FLH (in Ref. 4; AAF14876).	DNA repair		nuclease activity				0						CACCTGTGTGGGAAGAATGGT	0.448												
TOPBP1	11073	broad.mit.edu	37	3	133320111	133320111	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr3:133320111G>A	uc003eps.2	-	28	4684	c.4552C>T	c.(4552-4554)CGA>TGA	p.R1518*		NM_007027	NP_008958	Q92547	TOPB1_HUMAN	topoisomerase (DNA) II binding protein 1	1518	Nuclear localization signal (Potential).				DNA repair|response to ionizing radiation	microtubule organizing center|PML body|spindle pole	DNA binding|protein C-terminus binding			ovary(2)|kidney(2)|skin(1)|lung(1)|pancreas(1)	7						ACTCTAGGTCGTTTGATTTTA	0.333								Other_conserved_DNA_damage_response_genes				
EPHB1	2047	broad.mit.edu	37	3	134851684	134851684	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr3:134851684C>T	uc003eqt.2	+	5	1310	c.1090C>T	c.(1090-1092)CGG>TGG	p.R364W	EPHB1_uc010htz.1_RNA|EPHB1_uc011bly.1_3'UTR|EPHB1_uc003equ.2_5'UTR	NM_004441	NP_004432	P54762	EPHB1_HUMAN	ephrin receptor EphB1 precursor	364	Extracellular (Potential).|Fibronectin type-III 1.					integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding	p.R364L(1)		lung(11)|ovary(6)|stomach(4)|breast(3)|central_nervous_system(2)|skin(2)|large_intestine(1)|pancreas(1)	30						CAAAAAGTGCCGGGCAGACCG	0.602												
FOXL2	668	broad.mit.edu	37	3	138664511	138664511	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr3:138664511C>T	uc003esw.2	-	1	1472	c.1054G>A	c.(1054-1056)GAG>AAG	p.E352K	uc003esv.1_5'Flank|C3orf72_uc003esx.1_5'Flank|C3orf72_uc011bmr.1_5'Flank	NM_023067	NP_075555	P58012	FOXL2_HUMAN	forkhead box L2	352					convergent extension|DNA fragmentation involved in apoptotic nuclear change|embryonic eye morphogenesis|extraocular skeletal muscle development|female somatic sex determination|induction of apoptosis|menstruation|negative regulation of transcription, DNA-dependent|ovarian follicle development|pattern specification process|positive regulation of caspase activity|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	caspase regulator activity|DNA bending activity|double-stranded DNA binding|estrogen receptor binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|ubiquitin conjugating enzyme binding			ovary(266)|large_intestine(1)|skin(1)	268						ATGGCGAGCTCGGGCTGCCGG	0.478			Mis		granulosa-cell tumour of the ovary		Blepharophimosis|ptosis and epicanthus inversus Types I|II; Premature ovarian failure type III					
PAQR9	344838	broad.mit.edu	37	3	142681359	142681359	+	Missense_Mutation	SNP	A	A	C			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr3:142681359A>C	uc003evg.2	-	1	820	c.820T>G	c.(820-822)TTC>GTC	p.F274V	PAQR9_uc003evf.1_RNA	NM_198504	NP_940906	Q6ZVX9	PAQR9_HUMAN	progestin and adipoQ receptor family member IX	274	Extracellular (Potential).					integral to membrane	receptor activity				0						AAGTGCACGAAGAGTGTGGGG	0.607												
ZIC4	84107	broad.mit.edu	37	3	147114002	147114002	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr3:147114002C>T	uc003ewd.1	-	3	598	c.325G>A	c.(325-327)GCG>ACG	p.A109T	ZIC4_uc003ewc.1_Missense_Mutation_p.A39T|ZIC4_uc011bno.1_Missense_Mutation_p.A159T	NM_032153	NP_115529	Q8N9L1	ZIC4_HUMAN	zinc finger protein of the cerebellum 4	109						nucleus	DNA binding|zinc ion binding			upper_aerodigestive_tract(1)|central_nervous_system(1)	2						CCGTGGGGCGCAGCGAGGTTC	0.706												
EIF2A	83939	broad.mit.edu	37	3	150289982	150289982	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr3:150289982A>G	uc003eya.2	+	10	1065	c.1049A>G	c.(1048-1050)AAA>AGA	p.K350R	SERP1_uc003exz.2_Intron|EIF2A_uc003eyb.2_Missense_Mutation_p.K223R|EIF2A_uc003eyc.2_Missense_Mutation_p.K223R|EIF2A_uc011bnv.1_Missense_Mutation_p.K325R|EIF2A_uc011bnw.1_Missense_Mutation_p.K289R|EIF2A_uc003eyd.2_Missense_Mutation_p.K125R|uc003eye.1_Intron	NM_032025	NP_114414	Q9BY44	EIF2A_HUMAN	eukaryotic translation initiation factor 2A	350					regulation of translation|ribosome assembly	eukaryotic translation initiation factor 2 complex	ribosome binding|translation initiation factor activity|tRNA binding				0		Melanoma(1037;0.0575)	LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			AAAAACTACAAACTTATTTCT	0.423												
P2RY12	64805	broad.mit.edu	37	3	151056290	151056290	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr3:151056290A>G	uc003eyw.1	-	2	560	c.344T>C	c.(343-345)CTG>CCG	p.L115P	MED12L_uc011bnz.1_Intron|MED12L_uc003eyp.2_Intron|P2RY12_uc011boa.1_Intron|P2RY12_uc003eyx.1_Missense_Mutation_p.L115P	NM_176876	NP_795345	Q9H244	P2Y12_HUMAN	purinergic receptor P2Y12	115	Helical; Name=3; (Potential).				platelet activation	integral to membrane|plasma membrane	guanyl-nucleotide exchange factor activity			skin(1)	1			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		Clopidogrel(DB00758)|Epoprostenol(DB01240)|Ticlopidine(DB00208)|Treprostinil(DB00374)	TATCAGTCCCAGGAATGAAAT	0.418												
DHX36	170506	broad.mit.edu	37	3	154017707	154017707	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr3:154017707G>A	uc003ezy.3	-	12	1550	c.1469C>T	c.(1468-1470)GCG>GTG	p.A490V	DHX36_uc010hvq.2_Missense_Mutation_p.A490V|DHX36_uc003ezz.3_Missense_Mutation_p.A490V	NM_020865	NP_065916	Q9H2U1	DHX36_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 36	490	Helicase C-terminal.					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)			GACCAGTATCGCACCATCCTA	0.358												
RSRC1	51319	broad.mit.edu	37	3	157840089	157840089	+	Splice_Site	SNP	T	T	G			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr3:157840089T>G	uc003fbt.2	+	2	305	c.194_splice	c.e2+2	p.R65_splice	RSRC1_uc011bou.1_Splice_Site_p.R65_splice|RSRC1_uc003fbu.1_Splice_Site_p.R65_splice|RSRC1_uc003fbv.2_Splice_Site_p.R65_splice	NM_016625	NP_057709	Q96IZ7	RSRC1_HUMAN	arginine/serine-rich coiled-coil 1						nucleocytoplasmic transport	cytoplasm|nuclear speck	protein binding				0			Lung(72;0.00416)|LUSC - Lung squamous cell carcinoma(72;0.00575)			TGATAGAAGGTGATTTTTGTA	0.289												
WDR49	151790	broad.mit.edu	37	3	167217963	167217963	+	Silent	SNP	C	C	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr3:167217963C>T	uc003fev.1	-	14	2259	c.1953G>A	c.(1951-1953)CTG>CTA	p.L651L	WDR49_uc003feu.1_Silent_p.L476L|WDR49_uc011bpd.1_Silent_p.L616L|WDR49_uc003few.1_Intron	NM_178824	NP_849146	Q8IV35	WDR49_HUMAN	WD repeat domain 49	651										large_intestine(1)|ovary(1)|skin(1)	3						ACGGGGCCTCCAGAATTTGGG	0.428												
PRKCI	5584	broad.mit.edu	37	3	169998141	169998141	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr3:169998141C>T	uc003fgs.2	+	9	1070	c.832C>T	c.(832-834)CGT>TGT	p.R278C		NM_002740	NP_002731	P41743	KPCI_HUMAN	protein kinase C, iota	278	Protein kinase.				anti-apoptosis|cellular membrane organization|cellular response to insulin stimulus|establishment or maintenance of epithelial cell apical/basal polarity|intracellular signal transduction|nerve growth factor receptor signaling pathway|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|protein targeting to membrane|secretion|tight junction assembly|vesicle-mediated transport	cytosol|endosome|nucleus|polarisome	ATP binding|phospholipid binding|protein binding|protein kinase C activity|zinc ion binding			lung(2)|ovary(1)|breast(1)|skin(1)	5	all_cancers(22;6.45e-23)|all_epithelial(15;8.52e-28)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)			AAAAACAGATCGTATTTATGC	0.348												
SLC7A14	57709	broad.mit.edu	37	3	170244713	170244713	+	Missense_Mutation	SNP	A	A	C			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr3:170244713A>C	uc003fgz.2	-	2	329	c.13T>G	c.(13-15)TTC>GTC	p.F5V	CLDN11_uc011bpt.1_Intron|uc003fha.1_Intron	NM_020949	NP_066000	Q8TBB6	S7A14_HUMAN	solute carrier family 7 (cationic amino acid	5						integral to membrane	amino acid transmembrane transporter activity			ovary(2)|upper_aerodigestive_tract(1)|liver(1)|central_nervous_system(1)	5	all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137)		Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12)			AGCGAGGTGAAGAAGCCACTC	0.567												
KCNMB2	10242	broad.mit.edu	37	3	178546005	178546005	+	Silent	SNP	G	G	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr3:178546005G>A	uc003fjd.2	+	4	610	c.267G>A	c.(265-267)GCG>GCA	p.A89A	uc003fjb.1_Intron|uc003fjc.1_Intron|KCNMB2_uc003fje.2_Silent_p.A89A|KCNMB2_uc003fjf.2_Silent_p.A89A|KCNMB2_uc011bqa.1_Intron|KCNMB2_uc011bqb.1_Intron	NM_181361	NP_852006	Q9Y691	KCMB2_HUMAN	calcium-activated potassium channel beta 2	89	Extracellular (Potential).				detection of calcium ion|platelet activation|regulation of action potential in neuron|regulation of vasoconstriction	voltage-gated potassium channel complex	calcium-activated potassium channel activity|ion channel inhibitor activity|potassium channel regulator activity			ovary(1)	1	all_cancers(143;5.38e-18)|Ovarian(172;0.00769)|Breast(254;0.125)		OV - Ovarian serous cystadenocarcinoma(80;1.32e-27)|GBM - Glioblastoma multiforme(14;0.0321)|BRCA - Breast invasive adenocarcinoma(182;0.0841)			TGCTGAATGCGTCCATCACGG	0.488												
PIK3CA	5290	broad.mit.edu	37	3	178936091	178936091	+	Missense_Mutation	SNP	G	G	A	rs104886003		TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	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)		
USP13	8975	broad.mit.edu	37	3	179474842	179474842	+	Missense_Mutation	SNP	C	C	T	rs149947980		TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr3:179474842C>T	uc003fkh.2	+	16	2005	c.1924C>T	c.(1924-1926)CGC>TGC	p.R642C	USP13_uc003fkf.2_3'UTR	NM_003940	NP_003931	Q92995	UBP13_HUMAN	ubiquitin thiolesterase 13	642					ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|omega peptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			ovary(1)	1	all_cancers(143;7.79e-15)|Ovarian(172;0.0338)|Breast(254;0.148)		OV - Ovarian serous cystadenocarcinoma(80;1e-25)|GBM - Glioblastoma multiforme(14;0.0169)			ATTTCCAGATCGCCTGATGAA	0.373												
ABCF3	55324	broad.mit.edu	37	3	183911390	183911390	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr3:183911390G>A	uc003fmz.2	+	21	2167	c.2034G>A	c.(2032-2034)TGG>TGA	p.W678*	ABCF3_uc003fna.2_Nonsense_Mutation_p.W672*|ABCF3_uc003fnb.2_Nonsense_Mutation_p.W359*	NM_018358	NP_060828	Q9NUQ8	ABCF3_HUMAN	ATP-binding cassette, sub-family F (GCN20),	678	ABC transporter 2.						ATP binding|ATPase activity			ovary(3)|lung(1)	4	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.35e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GGGAGTTGTGGGTATGCGAAG	0.622												
VPS8	23355	broad.mit.edu	37	3	184633161	184633161	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr3:184633161C>T	uc003fpb.1	+	27	2446	c.2275C>T	c.(2275-2277)CGC>TGC	p.R759C	VPS8_uc010hyd.1_Missense_Mutation_p.R669C|VPS8_uc010hye.1_Missense_Mutation_p.R188C	NM_015303	NP_056118	Q8N3P4	VPS8_HUMAN	vacuolar protein sorting 8 homolog isoform b	761							zinc ion binding			ovary(1)	1	all_cancers(143;2.51e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.02e-33)|OV - Ovarian serous cystadenocarcinoma(80;4.81e-22)			ATTTCTAATTCGCCTGCATTC	0.363												
FETUB	26998	broad.mit.edu	37	3	186360309	186360309	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr3:186360309T>C	uc010hyq.2	+	4	647	c.386T>C	c.(385-387)GTT>GCT	p.V129A	FETUB_uc011brz.1_Intron|FETUB_uc003fqn.2_Missense_Mutation_p.V129A|FETUB_uc003fqo.2_Missense_Mutation_p.V24A|FETUB_uc010hyr.2_Missense_Mutation_p.V92A|FETUB_uc010hys.2_Intron|FETUB_uc003fqp.3_Intron	NM_014375	NP_055190	Q9UGM5	FETUB_HUMAN	fetuin B precursor	129	Cystatin fetuin-B-type 1.					extracellular space	cysteine-type endopeptidase inhibitor activity			ovary(1)|lung(1)	2	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0479)		CCAAGTAGAGTTCTCTATTTA	0.343												
TP63	8626	broad.mit.edu	37	3	189526243	189526243	+	Silent	SNP	C	C	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr3:189526243C>T	uc003fry.2	+	4	596	c.507C>T	c.(505-507)ACC>ACT	p.T169T	TP63_uc003frx.2_Silent_p.T169T|TP63_uc003frz.2_Silent_p.T169T|TP63_uc010hzc.1_Silent_p.T169T|TP63_uc003fsa.2_Silent_p.T75T|TP63_uc003fsb.2_Silent_p.T75T|TP63_uc003fsc.2_Silent_p.T75T|TP63_uc003fsd.2_Silent_p.T75T|TP63_uc010hzd.1_Intron|TP63_uc003fse.1_Silent_p.T50T	NM_003722	NP_003713	Q9H3D4	P63_HUMAN	tumor protein p63 isoform 1	169					anti-apoptosis|cellular response to UV|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray	chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			skin(5)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	12	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		CCTCCAACACCGACTACCCAG	0.652									Hay-Wells_syndrome	HNSCC(45;0.13)		
ACAP2	23527	broad.mit.edu	37	3	195022369	195022369	+	Missense_Mutation	SNP	G	G	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr3:195022369G>T	uc003fun.3	-	15	1571	c.1330C>A	c.(1330-1332)CTT>ATT	p.L444I		NM_012287	NP_036419	Q15057	ACAP2_HUMAN	centaurin, beta 2	444	Arf-GAP.				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding			large_intestine(1)|ovary(1)	2						TGAACCCCAAGGCTCCTAAGT	0.348												
PPP1R2	5504	broad.mit.edu	37	3	195245831	195245831	+	Silent	SNP	C	C	T	rs144914044	byFrequency	TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr3:195245831C>T	uc003fup.2	-	5	931	c.555G>A	c.(553-555)ACG>ACA	p.T185T		NM_006241	NP_006232	P41236	IPP2_HUMAN	protein phosphatase 1, regulatory subunit 2	185					glycogen metabolic process|regulation of phosphoprotein phosphatase activity|regulation of signal transduction		protein binding|protein serine/threonine phosphatase inhibitor activity			urinary_tract(1)	1	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)		Epithelial(36;2.64e-22)|all cancers(36;2.69e-20)|OV - Ovarian serous cystadenocarcinoma(49;3.52e-19)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128)	GBM - Glioblastoma multiforme(46;9.55e-05)		TTGATTCTTCCGTATTCATGC	0.338												
MUC4	4585	broad.mit.edu	37	3	195498524	195498524	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr3:195498524T>C	uc011bto.1	-	6	13317	c.12857A>G	c.(12856-12858)CAG>CGG	p.Q4286R	MUC4_uc003fuz.2_Missense_Mutation_p.R94G|MUC4_uc003fva.2_5'UTR|MUC4_uc003fvb.2_5'UTR|MUC4_uc003fvc.2_RNA|MUC4_uc003fvd.2_RNA|MUC4_uc003fve.2_5'UTR|MUC4_uc010hzr.2_RNA|MUC4_uc011btf.1_5'UTR|MUC4_uc011btg.1_RNA|MUC4_uc011bth.1_5'UTR|MUC4_uc011bti.1_5'UTR|MUC4_uc011btj.1_Missense_Mutation_p.Q155R|MUC4_uc011btk.1_5'UTR|MUC4_uc011btl.1_5'UTR|MUC4_uc011btm.1_Missense_Mutation_p.Q155R|MUC4_uc011btn.1_5'UTR|MUC4_uc003fvo.2_Missense_Mutation_p.Q178R|MUC4_uc003fvp.2_Missense_Mutation_p.Q127R|MUC4_uc010hzu.1_Missense_Mutation_p.Q1026R	NM_018406	NP_060876	Q99102	MUC4_HUMAN	mucin 4 isoform a	1171	NIDO.				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)		AAGGCTCACCTGATAAAATGT	0.602												
MUC4	4585	broad.mit.edu	37	3	195515664	195515664	+	Silent	SNP	G	G	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr3:195515664G>A	uc011bto.1	-	2	3247	c.2787C>T	c.(2785-2787)ACC>ACT	p.T929T	MUC4_uc003fvo.2_Intron|MUC4_uc003fvp.2_Intron|MUC4_uc010hzu.1_Silent_p.T811T	NM_018406	NP_060876	Q99102	MUC4_HUMAN	mucin 4 isoform a	934	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)		AGAAGGTGTCGGTTGCCTGGG	0.582												
LRRC33	375387	broad.mit.edu	37	3	196386812	196386812	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr3:196386812G>A	uc003fwv.2	+	3	402	c.298G>A	c.(298-300)GCC>ACC	p.A100T		NM_198565	NP_940967	Q86YC3	LRC33_HUMAN	leucine rich repeat containing 33 precursor	100	Extracellular (Potential).|LRR 2.					integral to membrane				ovary(2)|central_nervous_system(1)	3	all_cancers(143;8.88e-09)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;1.9e-23)|all cancers(36;1.76e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00326)		CAGCCGCGGCGCCTTCCAGGA	0.657												
PIGG	54872	broad.mit.edu	37	4	515569	515569	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr4:515569G>A	uc003gak.3	+	8	1589	c.1453G>A	c.(1453-1455)GCC>ACC	p.A485T	PIGG_uc003gaj.3_Missense_Mutation_p.A477T|PIGG_uc011bux.1_RNA|PIGG_uc010ibf.2_Missense_Mutation_p.A352T|PIGG_uc003gal.3_Missense_Mutation_p.A396T|PIGG_uc003gai.2_RNA|PIGG_uc011buw.1_3'UTR|PIGG_uc003gam.2_3'UTR|PIGG_uc003gan.2_Missense_Mutation_p.A396T	NM_001127178	NP_001120650	Q5H8A4	PIGG_HUMAN	phosphatidylinositol glycan anchor biosynthesis,	485	Helical; (Potential).				C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	CP2 mannose-ethanolamine phosphotransferase activity			central_nervous_system(2)|ovary(1)|skin(1)	4						GGTTCTTTCGGCCGTTCACGT	0.577												
NOP14	8602	broad.mit.edu	37	4	2944054	2944054	+	Missense_Mutation	SNP	C	C	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr4:2944054C>A	uc003ggj.1	-	14	1988	c.1916G>T	c.(1915-1917)AGA>ATA	p.R639I	C4orf10_uc003gge.1_Intron|C4orf10_uc003ggh.2_Intron|C4orf10_uc003ggi.1_Intron|NOP14_uc010icp.2_Missense_Mutation_p.R385I|NOP14_uc003ggk.3_Missense_Mutation_p.R639I|NOP14_uc003ggl.2_Missense_Mutation_p.R639I	NM_003703	NP_003694	P78316	NOP14_HUMAN	probable nucleolar complex protein 14	639					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)	mitochondrion|Noc4p-Nop14p complex|small-subunit processome	snoRNA binding			pancreas(1)	1						CCCAAGCGCTCTGAAAGGGTG	0.602												
OTOP1	133060	broad.mit.edu	37	4	4190572	4190572	+	Missense_Mutation	SNP	C	C	G			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr4:4190572C>G	uc003ghp.1	-	6	1827	c.1797G>C	c.(1795-1797)ATG>ATC	p.M599I		NM_177998	NP_819056	Q7RTM1	OTOP1_HUMAN	otopetrin 1	599					biomineral tissue development	extracellular space|integral to membrane				ovary(2)|central_nervous_system(1)	3				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		CAGCTGCGTGCATTCGATAGA	0.458												
STK32B	55351	broad.mit.edu	37	4	5461854	5461854	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr4:5461854C>T	uc003gih.1	+	9	872	c.808C>T	c.(808-810)CGC>TGC	p.R270C	STK32B_uc010ida.1_Missense_Mutation_p.R223C	NM_018401	NP_060871	Q9NY57	ST32B_HUMAN	serine/threonine kinase 32B	270	Protein kinase.						ATP binding|metal ion binding|protein serine/threonine kinase activity			breast(2)|large_intestine(1)|central_nervous_system(1)|skin(1)	5						TCCTGAGAGCCGCGTGTCCAG	0.567											OREG0016061	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
JAKMIP1	152789	broad.mit.edu	37	4	6107525	6107525	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr4:6107525G>A	uc003giu.3	-	3	575	c.299C>T	c.(298-300)GCG>GTG	p.A100V	JAKMIP1_uc010idb.1_Missense_Mutation_p.A100V|JAKMIP1_uc010idc.1_Intron|JAKMIP1_uc010idd.1_Missense_Mutation_p.A100V|JAKMIP1_uc011bwc.1_Intron|JAKMIP1_uc003giv.3_Missense_Mutation_p.A100V|JAKMIP1_uc010ide.2_Missense_Mutation_p.A100V	NM_144720	NP_653321	Q96N16	JKIP1_HUMAN	janus kinase and microtubule interacting protein	100	Potential.|Mediates association with microtubules.				protein transport	cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex	GABA receptor binding|RNA binding			large_intestine(1)|pancreas(1)|ovary(1)|skin(1)	4						GGCGGTGCGCGCCGCCTCCTG	0.682												
KIAA0232	9778	broad.mit.edu	37	4	6863563	6863563	+	Missense_Mutation	SNP	G	G	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr4:6863563G>T	uc003gjr.3	+	7	1917	c.1454G>T	c.(1453-1455)GGG>GTG	p.G485V	KIAA0232_uc003gjq.3_Missense_Mutation_p.G485V	NM_014743	NP_055558	Q92628	K0232_HUMAN	hypothetical protein LOC9778	485							ATP binding			ovary(2)	2						GACCTCACTGGGACCTCATTA	0.363												
SH3TC1	54436	broad.mit.edu	37	4	8229894	8229894	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr4:8229894G>A	uc003gkv.3	+	12	2574	c.2473G>A	c.(2473-2475)GTG>ATG	p.V825M	SH3TC1_uc003gkw.3_Missense_Mutation_p.V749M|SH3TC1_uc003gkx.3_RNA|SH3TC1_uc003gky.2_5'Flank	NM_018986	NP_061859	Q8TE82	S3TC1_HUMAN	SH3 domain and tetratricopeptide repeats 1	825							binding			large_intestine(2)|pancreas(1)	3						CCGTGCCATCGTGGACCACCT	0.662												
GPR78	27201	broad.mit.edu	37	4	8582915	8582915	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr4:8582915G>A	uc003glk.2	+	1	625	c.206G>A	c.(205-207)CGC>CAC	p.R69H	CPZ_uc003gll.2_RNA	NM_080819	NP_543009	Q96P69	GPR78_HUMAN	G protein-coupled receptor 78	69	Extracellular (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(4)|ovary(2)	6						GGTGTGATGCGCGGGCGGACA	0.692												
DRD5	1816	broad.mit.edu	37	4	9784426	9784426	+	Missense_Mutation	SNP	G	G	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr4:9784426G>T	uc003gmb.3	+	1	1169	c.773G>T	c.(772-774)AGG>ATG	p.R258M		NM_000798	NP_000789	P21918	DRD5_HUMAN	dopamine receptor D5	258	Cytoplasmic (Potential).				activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic	integral to plasma membrane				skin(1)	1					Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)	CAGATCCGCAGGATTTCCTCC	0.632												
SLC2A9	56606	broad.mit.edu	37	4	9922008	9922008	+	Splice_Site	SNP	C	C	G			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr4:9922008C>G	uc003gmc.2	-	7	1063	c.1002_splice	c.e7+1	p.A334_splice	SLC2A9_uc003gmd.2_Splice_Site_p.A305_splice	NM_020041	NP_064425	Q9NRM0	GTR9_HUMAN	solute carrier family 2, member 9 protein						glucose transport|urate metabolic process	integral to membrane|plasma membrane	sugar:hydrogen symporter activity			ovary(3)	3						CCAGGACTCACTGCATTGAGG	0.512												
CPEB2	132864	broad.mit.edu	37	4	15054158	15054158	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr4:15054158G>A	uc003gni.1	+	6	1073	c.986G>A	c.(985-987)CGC>CAC	p.R329H	CPEB2_uc003gnj.1_Missense_Mutation_p.R299H|CPEB2_uc003gnk.1_Missense_Mutation_p.R337H|CPEB2_uc003gnl.1_Missense_Mutation_p.R310H|CPEB2_uc003gnm.1_Missense_Mutation_p.R307H|CPEB2_uc003gnn.1_Missense_Mutation_p.R302H	NM_182485	NP_872291	Q7Z5Q1	CPEB2_HUMAN	cytoplasmic polyadenylation element binding	329					regulation of translation	cytoplasm	nucleotide binding|RNA binding			skin(1)	1						CGAATAGAACGCTTCTCTCGA	0.368												
C1QTNF7	114905	broad.mit.edu	37	4	15444376	15444376	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr4:15444376G>A	uc011bxb.1	+	3	1050	c.823G>A	c.(823-825)GTT>ATT	p.V275I	C1QTNF7_uc003gno.2_Missense_Mutation_p.V282I|C1QTNF7_uc003gnp.2_Missense_Mutation_p.V275I	NM_001135171	NP_001128643	Q9BXJ2	C1QT7_HUMAN	C1q and tumor necrosis factor related protein 7	275	C1q.					collagen					0						TCTCTTATACGTTGACACAGA	0.448												
CC2D2A	57545	broad.mit.edu	37	4	15529170	15529170	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr4:15529170A>G	uc010idv.2	+	13	1495	c.1250A>G	c.(1249-1251)CAT>CGT	p.H417R	CC2D2A_uc003gnx.2_Missense_Mutation_p.H368R|CC2D2A_uc003gnv.2_Missense_Mutation_p.H417R	NM_001080522	NP_001073991	Q9P2K1	C2D2A_HUMAN	coiled-coil and C2 domain containing 2A isoform	417					cell projection organization	cilium|microtubule basal body				pancreas(2)|ovary(1)	3						ATCTTCACTCATCATCCCTGT	0.443												
CD38	952	broad.mit.edu	37	4	15780178	15780178	+	Silent	SNP	C	C	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr4:15780178C>T	uc011bxc.1	+	1	248	c.141C>T	c.(139-141)CGC>CGT	p.R47R	CD38_uc003goj.1_Silent_p.R47R|CD38_uc003gol.1_Silent_p.R47R	NM_001775	NP_001766	P28907	CD38_HUMAN	CD38 antigen	47	Extracellular (Potential).				B cell receptor signaling pathway|induction of apoptosis by extracellular signals|negative regulation of apoptosis|negative regulation of transcription, DNA-dependent|positive regulation of B cell proliferation|positive regulation of transcription, DNA-dependent|response to drug	integral to membrane|plasma membrane	binding|NAD+ nucleosidase activity|receptor activity			ovary(2)	2						CGAGGTGGCGCCAGCAGTGGA	0.627												
CD38	952	broad.mit.edu	37	4	15826541	15826541	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr4:15826541A>G	uc011bxc.1	+	3	508	c.401A>G	c.(400-402)CAG>CGG	p.Q134R	CD38_uc003goj.1_Missense_Mutation_p.Q134R|CD38_uc003gol.1_Missense_Mutation_p.Q134R	NM_001775	NP_001766	P28907	CD38_HUMAN	CD38 antigen	134	Extracellular (Potential).				B cell receptor signaling pathway|induction of apoptosis by extracellular signals|negative regulation of apoptosis|negative regulation of transcription, DNA-dependent|positive regulation of B cell proliferation|positive regulation of transcription, DNA-dependent|response to drug	integral to membrane|plasma membrane	binding|NAD+ nucleosidase activity|receptor activity			ovary(2)	2						CTGGCCCATCAGTTCACACAG	0.378												
SLIT2	9353	broad.mit.edu	37	4	20487859	20487859	+	Silent	SNP	G	G	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr4:20487859G>A	uc003gpr.1	+	7	780	c.576G>A	c.(574-576)GTG>GTA	p.V192V	SLIT2_uc003gps.1_Silent_p.V192V	NM_004787	NP_004778	O94813	SLIT2_HUMAN	slit homolog 2 precursor	192	LRR 6.				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding			central_nervous_system(4)|skin(4)|ovary(3)	11						GACTTTCTGTGGCAAGTTTCA	0.274												
DHX15	1665	broad.mit.edu	37	4	24541861	24541861	+	Silent	SNP	A	A	G			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr4:24541861A>G	uc003gqx.2	-	10	1824	c.1656T>C	c.(1654-1656)GAT>GAC	p.D552D	DHX15_uc003gqw.2_5'Flank	NM_001358	NP_001349	O43143	DHX15_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 15	552					mRNA processing	U12-type spliceosomal complex	ATP binding|ATP-dependent helicase activity|nucleic acid binding|RNA helicase activity			ovary(1)	1		Breast(46;0.0503)				TCAGATCTCCATCATCATTTA	0.418												
SEL1L3	23231	broad.mit.edu	37	4	25823650	25823650	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr4:25823650A>G	uc003gru.3	-	7	1410	c.1258T>C	c.(1258-1260)TAC>CAC	p.Y420H		NM_015187	NP_056002	Q68CR1	SE1L3_HUMAN	sel-1 suppressor of lin-12-like 3	420						integral to membrane	binding				0						AGGCGATAGTACTTCAGGGGT	0.552												
TBC1D19	55296	broad.mit.edu	37	4	26675418	26675418	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr4:26675418G>A	uc003gsf.3	+	11	994	c.724G>A	c.(724-726)GCT>ACT	p.A242T	TBC1D19_uc010iew.2_Missense_Mutation_p.A242T|TBC1D19_uc011bxu.1_Missense_Mutation_p.A177T	NM_018317	NP_060787	Q8N5T2	TBC19_HUMAN	TBC1 domain family, member 19	242						intracellular	Rab GTPase activator activity			breast(1)	1		Breast(46;0.0503)				ACAAGATAGTGCTGCTGCTCA	0.378												
ARAP2	116984	broad.mit.edu	37	4	36081901	36081901	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr4:36081901C>T	uc003gsq.1	-	31	4883	c.4545G>A	c.(4543-4545)TGG>TGA	p.W1515*		NM_015230	NP_056045	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH	1515	PH 5.				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytosol	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding			ovary(1)|pancreas(1)|skin(1)	3						AACACAGGTGCCTGCAAAACG	0.398												
KLB	152831	broad.mit.edu	37	4	39409119	39409119	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr4:39409119C>T	uc003gua.2	+	1	647	c.550C>T	c.(550-552)CTT>TTT	p.L184F	KLB_uc011byj.1_Missense_Mutation_p.L184F	NM_175737	NP_783864	Q86Z14	KLOTB_HUMAN	klotho beta	184	Extracellular (Potential).|Glycosyl hydrolase-1 1.				carbohydrate metabolic process	integral to membrane|plasma membrane	cation binding|fibroblast growth factor binding|hydrolase activity, hydrolyzing O-glycosyl compounds			skin(1)	1						CGCTCTAGTGCTTAGAAACAT	0.403												
N4BP2	55728	broad.mit.edu	37	4	40122019	40122019	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr4:40122019C>T	uc003guy.3	+	9	2626	c.2288C>T	c.(2287-2289)ACG>ATG	p.T763M	N4BP2_uc010ifq.2_Missense_Mutation_p.T683M|N4BP2_uc010ifr.2_Missense_Mutation_p.T683M	NM_018177	NP_060647	Q86UW6	N4BP2_HUMAN	Nedd4 binding protein 2	763						cytoplasm	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding			lung(3)|breast(2)|kidney(2)|ovary(1)	8						GCAACAGTAACGAAAAAAGCC	0.373												
LIMCH1	22998	broad.mit.edu	37	4	41678464	41678464	+	Silent	SNP	G	G	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr4:41678464G>A	uc003gvu.3	+	18	2406	c.2352G>A	c.(2350-2352)CAG>CAA	p.Q784Q	LIMCH1_uc003gvv.3_Silent_p.Q784Q|LIMCH1_uc003gvw.3_Silent_p.Q783Q|LIMCH1_uc003gvx.3_Silent_p.Q796Q|LIMCH1_uc003gwe.3_Intron|LIMCH1_uc003gvy.3_Silent_p.Q612Q|LIMCH1_uc003gwa.3_Silent_p.Q624Q|LIMCH1_uc003gvz.3_Silent_p.Q1168Q|LIMCH1_uc011byu.1_Silent_p.Q617Q|LIMCH1_uc003gwc.3_Silent_p.Q629Q|LIMCH1_uc003gwd.3_Silent_p.Q617Q|LIMCH1_uc011byv.1_Silent_p.Q534Q|LIMCH1_uc011byw.1_Silent_p.Q83Q	NM_014988	NP_055803	Q9UPQ0	LIMC1_HUMAN	LIM and calponin homology domains 1 isoform a	784	Glu-rich.				actomyosin structure organization		actin binding|zinc ion binding			ovary(2)|pancreas(1)|skin(1)	4						AACAGGAACAGGAACGTTTGC	0.423												
PDGFRA	5156	broad.mit.edu	37	4	55133804	55133804	+	Silent	SNP	G	G	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr4:55133804G>A	uc003han.3	+	7	1348	c.1017G>A	c.(1015-1017)GTG>GTA	p.V339V	PDGFRA_uc003haa.2_Intron|PDGFRA_uc010igq.1_Silent_p.V233V|PDGFRA_uc003ham.2_RNA	NM_006206	NP_006197	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor alpha	339	Ig-like C2-type 4.|Extracellular (Potential).				cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity			soft_tissue(572)|small_intestine(40)|stomach(16)|lung(16)|central_nervous_system(13)|haematopoietic_and_lymphoid_tissue(7)|skin(3)|ovary(3)|gastrointestinal_tract_(site_indeterminate)(1)|autonomic_ganglia(1)|prostate(1)|bone(1)	674	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	TTGTAGAGGTGCGGGCCTACC	0.448			Mis|O|T	FIP1L1	GIST|idiopathic hypereosinophilic syndrome				Gastrointestinal_Stromal_Tumors_Sporadic_Multiple_Primary|Familial_Intestinal_Neurofibromatosis	TSP Lung(21;0.16)		
KIAA1211	57482	broad.mit.edu	37	4	57179385	57179385	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr4:57179385G>A	uc003hbk.2	+	7	768	c.377G>A	c.(376-378)CGG>CAG	p.R126Q	KIAA1211_uc010iha.2_Missense_Mutation_p.R119Q|KIAA1211_uc011bzz.1_Missense_Mutation_p.R36Q|KIAA1211_uc003hbm.1_Missense_Mutation_p.R12Q	NM_020722	NP_065773	Q6ZU35	K1211_HUMAN	hypothetical protein LOC57482	126										ovary(1)|skin(1)	2	Glioma(25;0.08)|all_neural(26;0.101)					AAACCGTCTCGGCCAAAAAGG	0.537												
LPHN3	23284	broad.mit.edu	37	4	62453059	62453059	+	Missense_Mutation	SNP	A	A	C			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr4:62453059A>C	uc010ihh.2	+	2	343	c.170A>C	c.(169-171)AAC>ACC	p.N57T	LPHN3_uc003hcq.3_Missense_Mutation_p.N57T|LPHN3_uc010ihg.1_Missense_Mutation_p.N125T	NM_015236	NP_056051	Q9HAR2	LPHN3_HUMAN	latrophilin 3 precursor	57	SUEL-type lectin.|Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			lung(15)|ovary(1)|central_nervous_system(1)|pancreas(1)	18						GAAAGTGCCAACTATGGCAGG	0.463												
EPHA5	2044	broad.mit.edu	37	4	66233108	66233108	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr4:66233108C>A	uc003hcy.2	-	10	2084	c.1891G>T	c.(1891-1893)GAA>TAA	p.E631*	EPHA5_uc003hcx.2_Nonsense_Mutation_p.E563*|EPHA5_uc003hcz.2_Nonsense_Mutation_p.E609*|EPHA5_uc011cah.1_Nonsense_Mutation_p.E632*|EPHA5_uc011cai.1_Nonsense_Mutation_p.E610*|EPHA5_uc003hda.2_Nonsense_Mutation_p.E632*	NM_004439	NP_004430	P54756	EPHA5_HUMAN	ephrin receptor EphA5 isoform a precursor	631	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						TTTTCCTCTTCTGGATCTTGT	0.358										TSP Lung(17;0.13)		
YTHDC1	91746	broad.mit.edu	37	4	69182138	69182138	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr4:69182138G>A	uc003hdx.2	-	16	2206	c.1853C>T	c.(1852-1854)CCA>CTA	p.P618L	YTHDC1_uc003hdy.2_Missense_Mutation_p.P600L	NM_001031732	NP_001026902	Q96MU7	YTDC1_HUMAN	splicing factor YT521-B isoform 1	618	Pro-rich.									upper_aerodigestive_tract(1)|ovary(1)	2						AGGATGGTGTGGAGGTTGTTC	0.443												
NUP54	53371	broad.mit.edu	37	4	77053839	77053839	+	Silent	SNP	C	C	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr4:77053839C>T	uc003hjs.2	-	6	872	c.744G>A	c.(742-744)TCG>TCA	p.S248S	NUP54_uc010ije.2_5'UTR|NUP54_uc011cbs.1_Silent_p.S68S|NUP54_uc011cbt.1_Silent_p.S200S|NUP54_uc003hjt.2_Silent_p.S68S	NM_017426	NP_059122	Q7Z3B4	NUP54_HUMAN	nucleoporin 54kDa	248	9 X 2 AA repeats of F-G.				carbohydrate metabolic process|glucose transport|mRNA transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleoplasm				ovary(1)|lung(1)	2						TACCATTTGGCGAACGCTCAA	0.373												
FRAS1	80144	broad.mit.edu	37	4	79400860	79400860	+	Missense_Mutation	SNP	A	A	C			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr4:79400860A>C	uc003hlb.2	+	56	8871	c.8431A>C	c.(8431-8433)AGT>CGT	p.S2811R		NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	2806	Calx-beta 3.|Extracellular (Potential).				cell communication	integral to membrane|plasma membrane	metal ion binding			large_intestine(5)	5						TTTCACTGTCAGTGAGGACGC	0.522												
SEC31A	22872	broad.mit.edu	37	4	83748700	83748700	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr4:83748700T>C	uc003hnf.2	-	24	3277	c.3113A>G	c.(3112-3114)CAA>CGA	p.Q1038R	SEC31A_uc003hnd.2_Missense_Mutation_p.Q207R|SEC31A_uc003hne.2_Missense_Mutation_p.Q787R|SEC31A_uc011ccl.1_Missense_Mutation_p.Q984R|SEC31A_uc003hnl.2_Missense_Mutation_p.Q885R|SEC31A_uc003hng.2_Missense_Mutation_p.Q1023R|SEC31A_uc003hnh.2_Missense_Mutation_p.Q1038R|SEC31A_uc003hni.2_Missense_Mutation_p.Q924R|SEC31A_uc003hnj.2_Missense_Mutation_p.Q999R|SEC31A_uc011ccm.1_Missense_Mutation_p.Q1018R|SEC31A_uc011ccn.1_Missense_Mutation_p.Q1023R|SEC31A_uc003hnk.2_Missense_Mutation_p.Q999R|SEC31A_uc003hnm.2_Missense_Mutation_p.Q1038R	NM_001077207	NP_001070675	O94979	SC31A_HUMAN	SEC31 homolog A isoform 1	1038	Interaction with PDCD6.|Pro-rich.				COPII vesicle coating|post-translational protein modification|protein N-linked glycosylation via asparagine|protein transport|response to calcium ion	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm	calcium-dependent protein binding		SEC31A/JAK2(4)|SEC31A/ALK(3)	haematopoietic_and_lymphoid_tissue(4)|soft_tissue(3)|breast(1)	8		Hepatocellular(203;0.114)				TGAAGGCTGTTGCTGCAGCAT	0.522												
MEPE	56955	broad.mit.edu	37	4	88766899	88766899	+	Silent	SNP	T	T	C			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr4:88766899T>C	uc003hqy.2	+	4	918	c.879T>C	c.(877-879)AGT>AGC	p.S293S	MEPE_uc010ikn.2_Silent_p.S180S	NM_020203	NP_064588	Q9NQ76	MEPE_HUMAN	matrix, extracellular phosphoglycoprotein with	293					skeletal system development	proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding			ovary(1)|lung(1)|skin(1)	3		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000432)		AAGCTGAGAGTACTCATCTTG	0.433												
HERC5	51191	broad.mit.edu	37	4	89380524	89380524	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr4:89380524A>G	uc003hrt.2	+	2	445	c.292A>G	c.(292-294)AAG>GAG	p.K98E		NM_016323	NP_057407	Q9UII4	HERC5_HUMAN	hect domain and RLD 5	98	RCC1 1.				innate immune response|ISG15-protein conjugation|negative regulation of type I interferon production|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cyclin-dependent protein kinase activity|regulation of defense response to virus|response to virus	cytosol|perinuclear region of cytoplasm	ISG15 ligase activity|protein binding|ubiquitin-protein ligase activity			ovary(4)|lung(3)|skin(2)	9		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000209)		AAAAAACATGAAGATACATTC	0.353												
RAP1GDS1	5910	broad.mit.edu	37	4	99363141	99363141	+	Missense_Mutation	SNP	A	A	C			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr4:99363141A>C	uc003htx.3	+	15	1887	c.1697A>C	c.(1696-1698)GAA>GCA	p.E566A	RAP1GDS1_uc003htw.3_Missense_Mutation_p.E567A|RAP1GDS1_uc003htv.3_Missense_Mutation_p.E566A|RAP1GDS1_uc003htz.3_Missense_Mutation_p.E517A|RAP1GDS1_uc003hty.3_Missense_Mutation_p.E518A|RAP1GDS1_uc003hua.3_Missense_Mutation_p.E475A	NM_001100427	NP_001093897	P52306	GDS1_HUMAN	RAP1, GTP-GDP dissociation stimulator 1 isoform	566							binding|GTPase activator activity			ovary(1)|lung(1)|breast(1)	3				OV - Ovarian serous cystadenocarcinoma(123;2.9e-07)|LUSC - Lung squamous cell carcinoma(1;0.0253)|Lung(1;0.0576)		TGTCTTCCAGAATGTCTACAC	0.363			T	NUP98	T-ALL							
SEC24B	10427	broad.mit.edu	37	4	110437687	110437687	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr4:110437687C>T	uc003hzk.2	+	11	2072	c.2017C>T	c.(2017-2019)CGT>TGT	p.R673C	SEC24B_uc003hzl.2_Missense_Mutation_p.R638C|SEC24B_uc011cfp.1_Missense_Mutation_p.R703C|SEC24B_uc011cfq.1_Missense_Mutation_p.R672C|SEC24B_uc011cfr.1_Missense_Mutation_p.R637C	NM_006323	NP_006314	O95487	SC24B_HUMAN	SEC24 (S. cerevisiae) homolog B isoform a	673					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	protein binding|transporter activity|zinc ion binding			ovary(2)|large_intestine(1)	3		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;3.03e-05)		CTTTCAGCTGCGTCCTCCTCA	0.318												
CFI	3426	broad.mit.edu	37	4	110682737	110682737	+	Silent	SNP	A	A	G			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr4:110682737A>G	uc003hzr.3	-	4	802	c.594T>C	c.(592-594)TTT>TTC	p.F198F	CFI_uc003hzq.2_5'UTR|CFI_uc011cft.1_Silent_p.F198F|CFI_uc003hzs.3_Silent_p.F198F	NM_000204	NP_000195	P05156	CFAI_HUMAN	complement factor I preproprotein	198	SRCR.				complement activation, classical pathway|innate immune response|proteolysis	extracellular space|membrane	scavenger receptor activity|serine-type endopeptidase activity				0		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000331)		TTCTCTTAGTAAAAGTACATT	0.398												
C4orf21	55345	broad.mit.edu	37	4	113539186	113539186	+	Missense_Mutation	SNP	A	A	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr4:113539186A>T	uc003iau.2	-	6	2223	c.2012T>A	c.(2011-2013)ATT>AAT	p.I671N	C4orf21_uc003iaw.2_Missense_Mutation_p.I671N	NM_018392	NP_060862	Q6ZU11	YD002_HUMAN	prematurely terminated mRNA decay factor-like	Error:Variant_position_missing_in_Q6ZU11_after_alignment						integral to membrane	zinc ion binding				0		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000676)		ATCATAGTTAATTCTGACTTC	0.303												
ANK2	287	broad.mit.edu	37	4	114290799	114290799	+	Silent	SNP	A	A	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr4:114290799A>T	uc003ibe.3	+	43	11548	c.11448A>T	c.(11446-11448)ACA>ACT	p.T3816T	ANK2_uc003ibd.3_Silent_p.T1722T|ANK2_uc003ibf.3_Silent_p.T1731T|ANK2_uc011cgc.1_Silent_p.T907T|ANK2_uc003ibg.3_Silent_p.T715T|ANK2_uc003ibh.3_Silent_p.T405T|ANK2_uc011cgd.1_Silent_p.T1118T	NM_001148	NP_001139	Q01484	ANK2_HUMAN	ankyrin 2 isoform 1	3783					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding|protein binding			central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)|skin(1)	14		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		AGACCCCAACATCCAGCGAGC	0.567												
NDST4	64579	broad.mit.edu	37	4	115997561	115997561	+	Missense_Mutation	SNP	T	T	G			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr4:115997561T>G	uc003ibu.2	-	2	1311	c.632A>C	c.(631-633)GAG>GCG	p.E211A	NDST4_uc010imw.2_Intron	NM_022569	NP_072091	Q9H3R1	NDST4_HUMAN	heparan sulfate N-deacetylase/N-sulfotransferase	211	Lumenal (Potential).|Heparan sulfate N-deacetylase 4.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			skin(3)|ovary(1)	4		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		AGGGCCTTTCTCAACCTTGGG	0.408												
SYNPO2	171024	broad.mit.edu	37	4	119951913	119951913	+	Silent	SNP	C	C	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr4:119951913C>T	uc003icm.3	+	4	2179	c.1983C>T	c.(1981-1983)TAC>TAT	p.Y661Y	SYNPO2_uc010ina.2_Silent_p.Y661Y|SYNPO2_uc010inb.2_Silent_p.Y661Y|SYNPO2_uc011cgh.1_Intron|SYNPO2_uc010inc.2_Silent_p.Y589Y	NM_001128933	NP_001122405	Q9UMS6	SYNP2_HUMAN	synaptopodin 2 isoform b	661						nucleus|Z disc	14-3-3 protein binding|actin binding|muscle alpha-actinin binding			ovary(2)	2						CAGCCTTTTACGATTCGTCTG	0.572												
PCDH10	57575	broad.mit.edu	37	4	134071388	134071388	+	Silent	SNP	C	C	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr4:134071388C>T	uc003iha.2	+	1	919	c.93C>T	c.(91-93)GGC>GGT	p.G31G	uc003igy.2_5'Flank|PCDH10_uc003igz.2_Silent_p.G31G	NM_032961	NP_116586	Q9P2E7	PCD10_HUMAN	protocadherin 10 isoform 1 precursor	31	Cadherin 1.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)	2				LUSC - Lung squamous cell carcinoma(193;0.227)		AGGAACATGGCACTTTCGTGG	0.493												
FBXW7	55294	broad.mit.edu	37	4	153245514	153245514	+	Silent	SNP	A	A	G			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr4:153245514A>G	uc003ims.2	-	11	1826	c.1677T>C	c.(1675-1677)CTT>CTC	p.L559L	FBXW7_uc011cii.1_Silent_p.L559L|FBXW7_uc003imt.2_Silent_p.L559L|FBXW7_uc011cih.1_Silent_p.L383L|FBXW7_uc003imq.2_Silent_p.L479L|FBXW7_uc003imr.2_Silent_p.L441L	NM_033632	NP_361014	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7 isoform	559	WD 5.				interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleolus|nucleoplasm|nucleoplasm|SCF ubiquitin ligase complex	protein binding|protein binding			haematopoietic_and_lymphoid_tissue(125)|large_intestine(99)|stomach(16)|lung(14)|endometrium(13)|ovary(9)|biliary_tract(8)|upper_aerodigestive_tract(5)|central_nervous_system(3)|kidney(3)|skin(3)|pancreas(3)|breast(2)|prostate(2)|cervix(1)|NS(1)|bone(1)	308	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				TTGATGTATCAAGAGATCCAC	0.398			Mis|N|D|F		colorectal|endometrial|T-ALL							
RNF175	285533	broad.mit.edu	37	4	154649450	154649450	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr4:154649450G>A	uc003int.2	-	4	683	c.310C>T	c.(310-312)CGG>TGG	p.R104W	RNF175_uc003inu.1_Intron	NM_173662	NP_775933	Q8N4F7	RN175_HUMAN	ring finger protein 175	104	Helical; (Potential).					integral to membrane	zinc ion binding			ovary(1)|pancreas(1)	2	all_hematologic(180;0.093)	Renal(120;0.118)				GACAGAAACCGCCACCAGTAT	0.448												
DCHS2	54798	broad.mit.edu	37	4	155163803	155163803	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr4:155163803T>C	uc003inw.2	-	22	5698	c.5698A>G	c.(5698-5700)ATT>GTT	p.I1900V		NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN	dachsous 2 isoform 1	1900	Cadherin 17.				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)		CCTTCTGTAATTTCCACTGCT	0.308												
PLRG1	5356	broad.mit.edu	37	4	155463418	155463418	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr4:155463418T>C	uc003iny.2	-	8	671	c.608A>G	c.(607-609)CAT>CGT	p.H203R	PLRG1_uc003inz.2_Missense_Mutation_p.H194R|PLRG1_uc011cil.1_Missense_Mutation_p.H42R	NM_002669	NP_002660	O43660	PLRG1_HUMAN	pleiotropic regulator 1 (PRL1 homolog,	203	WD 1.					catalytic step 2 spliceosome|nuclear speck	protein binding|signal transducer activity|transcription corepressor activity				0	all_hematologic(180;0.215)	Renal(120;0.0854)				CCAGCCAAGATGCCCACTGAT	0.403												
TRIM60	166655	broad.mit.edu	37	4	165961252	165961252	+	Missense_Mutation	SNP	C	C	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr4:165961252C>A	uc003iqy.1	+	3	198	c.28C>A	c.(28-30)CTC>ATC	p.L10I	TRIM60_uc010iqx.1_Missense_Mutation_p.L10I	NM_152620	NP_689833	Q495X7	TRI60_HUMAN	ring finger protein 129	10						intracellular	zinc ion binding			skin(1)	1	all_hematologic(180;0.221)	Prostate(90;0.0959)|Melanoma(52;0.18)		GBM - Glioblastoma multiforme(119;0.0844)		CCTGGTGAACCTCCAAGAGGA	0.522												
WDR17	116966	broad.mit.edu	37	4	177056319	177056319	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr4:177056319A>G	uc003iuj.2	+	9	1387	c.1231A>G	c.(1231-1233)ACA>GCA	p.T411A	WDR17_uc003iuk.2_Missense_Mutation_p.T387A|WDR17_uc003ium.3_Missense_Mutation_p.T387A|WDR17_uc003iul.1_Intron	NM_170710	NP_733828	Q8IZU2	WDR17_HUMAN	WD repeat domain 17 isoform 1	411	WD 6.									ovary(2)|skin(2)|pancreas(1)|central_nervous_system(1)	6		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		TCTTTTAGCAACAGCTTCATT	0.363												
VEGFC	7424	broad.mit.edu	37	4	177649058	177649058	+	Silent	SNP	C	C	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr4:177649058C>T	uc003ius.1	-	3	856	c.426G>A	c.(424-426)AAG>AAA	p.K142K		NM_005429	NP_005420	P49767	VEGFC_HUMAN	vascular endothelial growth factor C	142					angiogenesis|induction of positive chemotaxis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of mast cell chemotaxis|substrate-dependent cell migration|vascular endothelial growth factor receptor signaling pathway	membrane|platelet alpha granule lumen	chemoattractant activity|growth factor activity			lung(5)	5		Breast(14;0.000223)|Renal(120;0.00988)|Prostate(90;0.00996)|Melanoma(52;0.0101)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;1.59e-18)|Epithelial(43;3.68e-16)|OV - Ovarian serous cystadenocarcinoma(60;8.52e-09)|GBM - Glioblastoma multiforme(59;0.000546)|STAD - Stomach adenocarcinoma(60;0.00308)|Colorectal(24;0.025)|COAD - Colon adenocarcinoma(29;0.0359)|LUSC - Lung squamous cell carcinoma(193;0.0397)		CTCCAAACTCCTTCCCCACAT	0.473												
ODZ3	55714	broad.mit.edu	37	4	183574966	183574966	+	Missense_Mutation	SNP	A	A	C			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr4:183574966A>C	uc003ivd.1	+	5	1068	c.1031A>C	c.(1030-1032)GAA>GCA	p.E344A		NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	odz, odd Oz/ten-m homolog 3	344	Extracellular (Potential).				signal transduction	integral to membrane					0		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)		CAGCAGACTGAAAATGACACA	0.418												
ZFP42	132625	broad.mit.edu	37	4	188924640	188924640	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr4:188924640G>A	uc003izg.1	+	3	924	c.679G>A	c.(679-681)GTT>ATT	p.V227I	ZFP42_uc003izh.1_Missense_Mutation_p.V227I|ZFP42_uc003izi.1_Missense_Mutation_p.V227I	NM_174900	NP_777560	Q96MM3	ZFP42_HUMAN	zinc finger protein 42	227	C2H2-type 2.				female gonad development|male gonad development|meiosis	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|skin(1)	2		all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157)		GAAAGCGTTCGTTGAGAGCTC	0.502												
TRIML2	205860	broad.mit.edu	37	4	189012969	189012969	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr4:189012969G>A	uc003izl.2	-	7	758	c.722C>T	c.(721-723)GCC>GTC	p.A241V	TRIML2_uc003izj.1_Missense_Mutation_p.A69V|TRIML2_uc003izk.1_Missense_Mutation_p.A49V|TRIML2_uc011cle.1_Missense_Mutation_p.A316V	NM_173553	NP_775824	Q8N7C3	TRIMM_HUMAN	tripartite motif family-like 2	241	B30.2/SPRY.						ligase activity			central_nervous_system(2)	2		all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)		OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163)		CAGCACCATGGCACTGAAATC	0.567												
TRIML1	339976	broad.mit.edu	37	4	189060814	189060814	+	Silent	SNP	C	C	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr4:189060814C>T	uc003izm.1	+	1	217	c.102C>T	c.(100-102)AGC>AGT	p.S34S		NM_178556	NP_848651	Q8N9V2	TRIML_HUMAN	tripartite motif family-like 1	34	RING-type.				multicellular organismal development		ligase activity|zinc ion binding			ovary(1)|pancreas(1)|breast(1)|skin(1)	4		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)		GTGGGCACAGCTTTTGTCTGG	0.522												
PLEKHG4B	153478	broad.mit.edu	37	5	182314	182314	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr5:182314G>A	uc003jak.2	+	18	3742	c.3692G>A	c.(3691-3693)TGG>TAG	p.W1231*		NM_052909	NP_443141	Q96PX9	PKH4B_HUMAN	pleckstrin homology domain containing, family G	1231	Ser-rich.				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			skin(2)	2			all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)		CACAGCCCCTGGTCATCTGAT	0.642												
KIAA0947	23379	broad.mit.edu	37	5	5469044	5469044	+	Silent	SNP	G	G	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr5:5469044G>A	uc003jdm.3	+	15	6387	c.6165G>A	c.(6163-6165)AGG>AGA	p.R2055R		NM_015325	NP_056140	Q9Y2F5	K0947_HUMAN	hypothetical protein LOC23379	2055										ovary(1)|central_nervous_system(1)	2						TAGTTGCCAGGCAACGTGCTA	0.363												
PAPD7	11044	broad.mit.edu	37	5	6746416	6746416	+	Silent	SNP	T	T	C			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr5:6746416T>C	uc003jdx.1	+	7	714	c.585T>C	c.(583-585)AAT>AAC	p.N195N	PAPD7_uc011cmn.1_Silent_p.N186N|PAPD7_uc010itl.1_Silent_p.N15N	NM_006999	NP_008930	Q5XG87	PAPD7_HUMAN	DNA polymerase sigma	195	PAP-associated.				cell division|DNA replication|double-strand break repair|mitotic chromosome condensation|response to drug|sister chromatid cohesion	nucleus	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|SMC protein binding			ovary(1)	1						GAAATTTTAATTACTTGAAAA	0.418											OREG0016494	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
TRIO	7204	broad.mit.edu	37	5	14363893	14363893	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr5:14363893A>G	uc003jff.2	+	14	2450	c.2444A>G	c.(2443-2445)GAC>GGC	p.D815G	TRIO_uc003jfg.2_RNA|TRIO_uc011cna.1_Missense_Mutation_p.D766G|TRIO_uc003jfh.1_Missense_Mutation_p.D464G	NM_007118	NP_009049	O75962	TRIO_HUMAN	triple functional domain (PTPRF interacting)	815					apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			skin(4)|central_nervous_system(3)|ovary(3)|large_intestine(2)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|kidney(1)	18	Lung NSC(4;0.000742)					CAAATGAATGACTTCGACACA	0.428												
CDH12	1010	broad.mit.edu	37	5	21752243	21752243	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr5:21752243T>C	uc010iuc.2	-	12	2446	c.1988A>G	c.(1987-1989)GAA>GGA	p.E663G	CDH12_uc011cno.1_Missense_Mutation_p.E623G|CDH12_uc003jgk.2_Missense_Mutation_p.E663G|uc003jgj.2_Intron	NM_004061	NP_004052	P55289	CAD12_HUMAN	cadherin 12, type 2 preproprotein	663	Cytoplasmic (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)	2						CCCACCTCCTTCATCATCGTA	0.453										HNSCC(59;0.17)		
CDH12	1010	broad.mit.edu	37	5	21755909	21755909	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr5:21755909C>T	uc010iuc.2	-	11	2134	c.1676G>A	c.(1675-1677)CGC>CAC	p.R559H	CDH12_uc011cno.1_Missense_Mutation_p.R519H|CDH12_uc003jgk.2_Missense_Mutation_p.R559H|uc003jgj.2_Intron	NM_004061	NP_004052	P55289	CAD12_HUMAN	cadherin 12, type 2 preproprotein	559	Extracellular (Potential).|Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)	2						TTGCTGCCTGCGGCTGTATCC	0.428										HNSCC(59;0.17)		
NPR3	4883	broad.mit.edu	37	5	32712163	32712163	+	Missense_Mutation	SNP	C	C	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr5:32712163C>A	uc003jhv.2	+	1	499	c.281C>A	c.(280-282)CCG>CAG	p.P94Q	NPR3_uc010iuo.2_Intron|NPR3_uc011cnz.1_Intron|NPR3_uc003jhu.2_Missense_Mutation_p.P94Q	NM_000908	NP_000899	P17342	ANPRC_HUMAN	natriuretic peptide receptor C/guanylate cyclase	94	Extracellular (Potential).				osteoclast proliferation|positive regulation of urine volume|regulation of blood pressure|regulation of osteoblast proliferation|skeletal system development	integral to membrane	hormone binding|natriuretic peptide receptor activity			ovary(1)|central_nervous_system(1)	2					Nesiritide(DB04899)	CGGCTTCTGCCGCCGGGCACT	0.667												
DNAJC21	134218	broad.mit.edu	37	5	34937566	34937566	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr5:34937566C>T	uc003jjc.2	+	5	801	c.574C>T	c.(574-576)CGG>TGG	p.R192W	DNAJC21_uc003jjb.2_Missense_Mutation_p.R192W|DNAJC21_uc010iuu.1_Missense_Mutation_p.R76W	NM_001012339	NP_001012339	Q5F1R6	DJC21_HUMAN	DnaJ homology subfamily A member 5 isoform 2	192					protein folding	ribosome	heat shock protein binding|nucleic acid binding|unfolded protein binding|zinc ion binding			breast(1)|skin(1)	2	all_lung(31;7.08e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)			CAAAAAGATTCGGGACAAAGC	0.423												
UGT3A1	133688	broad.mit.edu	37	5	35954433	35954433	+	Silent	SNP	A	A	G			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr5:35954433A>G	uc003jjv.1	-	7	1600	c.1443T>C	c.(1441-1443)CAT>CAC	p.H481H	UGT3A1_uc003jjw.1_RNA	NM_152404	NP_689617	Q6NUS8	UD3A1_HUMAN	UDP glycosyltransferase 3 family, polypeptide A1	481	Extracellular (Potential).					integral to membrane	glucuronosyltransferase activity			ovary(2)|central_nervous_system(1)	3	all_lung(31;0.000197)		Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GGTACTGCTCATGCCAAGGCT	0.617												
NIPBL	25836	broad.mit.edu	37	5	37022159	37022159	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr5:37022159C>T	uc003jkl.3	+	28	5834	c.5335C>T	c.(5335-5337)CGA>TGA	p.R1779*	NIPBL_uc003jkk.3_Nonsense_Mutation_p.R1779*	NM_133433	NP_597677	Q6KC79	NIPBL_HUMAN	delangin isoform A	1779	HEAT 1.				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)			GCAGATCCTACGAGTTCTTGG	0.323												
SGTB	54557	broad.mit.edu	37	5	65016588	65016588	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr5:65016588C>T	uc003jud.2	-	2	267	c.47G>A	c.(46-48)CGG>CAG	p.R16Q	NLN_uc003jue.2_5'Flank|NLN_uc003juf.2_5'Flank	NM_019072	NP_061945	Q96EQ0	SGTB_HUMAN	small glutamine-rich tetratricopeptide repeat	16	TPR 1.						binding				0		Lung NSC(167;3.24e-06)|Prostate(74;0.0138)|Ovarian(174;0.0545)|Breast(144;0.174)|Colorectal(97;0.234)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0657)|Lung(70;0.00487)		ACTTTGTTCCCGTAAGAAACG	0.338												
CRHBP	1393	broad.mit.edu	37	5	76250013	76250013	+	Splice_Site	SNP	T	T	C			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr5:76250013T>C	uc003ker.2	+	3	613	c.333_splice	c.e3+2	p.K111_splice	CRHBP_uc010izx.2_Splice_Site_p.K111_splice	NM_001882	NP_001873	P24387	CRHBP_HUMAN	corticotropin releasing hormone binding protein						female pregnancy|learning or memory|signal transduction	soluble fraction					0		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;2.17e-51)|Epithelial(54;8.79e-46)|all cancers(79;2.49e-41)		TTCCTGAAGGTGAGGCGCCCA	0.657												
PAPD4	167153	broad.mit.edu	37	5	78981033	78981033	+	Missense_Mutation	SNP	A	A	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr5:78981033A>T	uc010jae.1	+	16	1810	c.1392A>T	c.(1390-1392)AGA>AGT	p.R464S	PAPD4_uc003kgb.2_Missense_Mutation_p.R464S|PAPD4_uc010jaf.1_Missense_Mutation_p.R464S|PAPD4_uc003kga.2_Missense_Mutation_p.R460S|PAPD4_uc003kfz.2_Missense_Mutation_p.R421S	NM_001114393	NP_001107865	Q6PIY7	GLD2_HUMAN	PAP associated domain containing 4	464					histone mRNA catabolic process|mRNA processing|RNA polyadenylation	cytoplasm	ATP binding|metal ion binding|polynucleotide adenylyltransferase activity			ovary(1)	1		Lung NSC(167;0.00293)|all_lung(232;0.00323)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;8.61e-47)|Epithelial(54;1.32e-41)|all cancers(79;2.45e-36)		CATGGCACAGATTGAAAAACA	0.323												
RASA1	5921	broad.mit.edu	37	5	86629108	86629108	+	Nonsense_Mutation	SNP	C	C	T	rs137853218		TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr5:86629108C>T	uc003kiw.2	+	4	971	c.853C>T	c.(853-855)CGA>TGA	p.R285*	RASA1_uc010jav.2_RNA|RASA1_uc003kix.2_Nonsense_Mutation_p.R108*|RASA1_uc011ctv.1_Nonsense_Mutation_p.R118*|RASA1_uc011ctw.1_Nonsense_Mutation_p.R119*|RASA1_uc010jaw.2_Nonsense_Mutation_p.R108*	NM_002890	NP_002881	P20936	RASA1_HUMAN	RAS p21 protein activator 1 isoform 1	285	SH3.				cytokinesis|embryo development|intracellular signal transduction|negative regulation of cell-matrix adhesion|negative regulation of neuron apoptosis|negative regulation of Ras protein signal transduction|positive regulation of anti-apoptosis|regulation of actin filament polymerization|regulation of cell shape|regulation of RNA metabolic process|vasculogenesis	cytosol|intrinsic to internal side of plasma membrane	glycoprotein binding|GTPase binding|potassium channel inhibitor activity|Ras GTPase activator activity|receptor binding			upper_aerodigestive_tract(3)|ovary(1)|lung(1)	5		all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423)		OV - Ovarian serous cystadenocarcinoma(54;4.72e-41)|Epithelial(54;1.51e-36)|all cancers(79;3.76e-31)		AAGGCGTGTACGAGCTATTCT	0.313												
LIX1	167410	broad.mit.edu	37	5	96430680	96430680	+	Silent	SNP	G	G	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr5:96430680G>T	uc003kmy.3	-	6	861	c.621C>A	c.(619-621)GCC>GCA	p.A207A		NM_153234	NP_694966	Q8N485	LIX1_HUMAN	limb expression 1	207										ovary(1)	1		all_cancers(142;4.28e-07)|all_epithelial(76;1.06e-09)|all_lung(232;0.00101)|Lung NSC(167;0.00137)|Ovarian(225;0.024)|Colorectal(57;0.0318)|Breast(839;0.244)		COAD - Colon adenocarcinoma(37;0.0733)		TCCAGTCCAGGGCCATGTGGC	0.507												
CHD1	1105	broad.mit.edu	37	5	98206418	98206418	+	Silent	SNP	A	A	C			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr5:98206418A>C	uc003knf.2	-	28	4099	c.3951T>G	c.(3949-3951)CTT>CTG	p.L1317L	CHD1_uc010jbn.2_Silent_p.L43L	NM_001270	NP_001261	O14646	CHD1_HUMAN	chromodomain helicase DNA binding protein 1	1317					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|methylated histone residue binding			lung(2)|ovary(1)|breast(1)|pancreas(1)	5		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0717)	Epirubicin(DB00445)	CTTTTTTTGCAAGATCTCTAC	0.383												
SLCO6A1	133482	broad.mit.edu	37	5	101735414	101735414	+	Silent	SNP	T	T	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr5:101735414T>A	uc003knn.2	-	10	1831	c.1659A>T	c.(1657-1659)GGA>GGT	p.G553G	SLCO6A1_uc003kno.2_Silent_p.G300G|SLCO6A1_uc003knp.2_Silent_p.G553G|SLCO6A1_uc003knq.2_Silent_p.G491G	NM_173488	NP_775759	Q86UG4	SO6A1_HUMAN	solute carrier organic anion transporter family,	553	Extracellular (Potential).					integral to membrane|plasma membrane	transporter activity			ovary(3)|skin(3)|central_nervous_system(1)	7		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		CAGTTATTAATCCTTCTTTAA	0.323												
WDR36	134430	broad.mit.edu	37	5	110440035	110440035	+	Missense_Mutation	SNP	C	C	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr5:110440035C>A	uc003kpd.2	+	8	1175	c.1058C>A	c.(1057-1059)GCT>GAT	p.A353D	WDR36_uc010jbu.2_RNA	NM_139281	NP_644810	Q8NI36	WDR36_HUMAN	WD repeat domain 36	353	WD 4.				response to stimulus|rRNA processing|visual perception	small-subunit processome				ovary(1)|skin(1)	2		all_cancers(142;2.72e-05)|all_epithelial(76;4.4e-07)|Prostate(80;0.00955)|Lung NSC(167;0.0418)|Ovarian(225;0.0443)|Colorectal(57;0.0465)|all_lung(232;0.0508)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;1.39e-08)|Epithelial(69;1.82e-07)|all cancers(49;2.04e-05)|COAD - Colon adenocarcinoma(37;0.111)		ACAAATGGCGCTGACAATGCT	0.378												
EPB41L4A	64097	broad.mit.edu	37	5	111570349	111570349	+	Missense_Mutation	SNP	C	C	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr5:111570349C>A	uc003kpv.1	-	12	1343	c.1069G>T	c.(1069-1071)GCA>TCA	p.A357S		NM_022140	NP_071423	Q9HCS5	E41LA_HUMAN	erythrocyte protein band 4.1-like 4	357						cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding			ovary(1)	1		all_cancers(142;4.93e-06)|all_epithelial(76;2.28e-08)|Prostate(80;0.000244)|Colorectal(10;0.000788)|Ovarian(225;0.0448)|Lung NSC(167;0.126)|all_lung(232;0.135)		OV - Ovarian serous cystadenocarcinoma(64;6.24e-09)|Epithelial(69;1.43e-07)|all cancers(49;2.78e-05)|COAD - Colon adenocarcinoma(37;0.0467)|Colorectal(14;0.0791)		TGTGTTTGTGCTATTCGCTTA	0.453												
MCC	4163	broad.mit.edu	37	5	112364690	112364690	+	Silent	SNP	G	G	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr5:112364690G>A	uc003kqj.3	-	16	2780	c.2250C>T	c.(2248-2250)AGC>AGT	p.S750S	MCC_uc003kqk.3_RNA|MCC_uc003kql.3_Silent_p.S940S	NM_002387	NP_002378	P23508	CRCM_HUMAN	mutated in colorectal cancers isoform 2	750					negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|Wnt receptor signaling pathway	cytoplasm|nucleus|plasma membrane	protein binding|receptor activity			ovary(1)	1		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)		GGATTTCACTGCTCTTGGTGA	0.478												
YTHDC2	64848	broad.mit.edu	37	5	112902884	112902884	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr5:112902884T>C	uc003kqn.2	+	22	3121	c.2938T>C	c.(2938-2940)TAT>CAT	p.Y980H		NM_022828	NP_073739	Q9H6S0	YTDC2_HUMAN	YTH domain containing 2	980							ATP binding|ATP-dependent helicase activity|nucleic acid binding			skin(2)|central_nervous_system(1)	3		all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594)		GGCAGGCATGTATCCTAATTT	0.463												
SRFBP1	153443	broad.mit.edu	37	5	121355909	121355909	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr5:121355909G>A	uc003kst.1	+	6	551	c.479G>A	c.(478-480)CGT>CAT	p.R160H		NM_152546	NP_689759	Q8NEF9	SRFB1_HUMAN	serum response factor binding protein 1	160					regulation of transcription, DNA-dependent|transcription, DNA-dependent	perinuclear region of cytoplasm					0		all_cancers(142;0.0124)|Prostate(80;0.0322)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000227)|Epithelial(69;0.000365)|all cancers(49;0.00517)		AATTTACAGCGTGAAGCAACT	0.333												
FSTL4	23105	broad.mit.edu	37	5	132648366	132648366	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr5:132648366C>T	uc003kyn.1	-	6	925	c.707G>A	c.(706-708)CGC>CAC	p.R236H		NM_015082	NP_055897	Q6MZW2	FSTL4_HUMAN	follistatin-like 4 precursor	236						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)			GTAGAACTCGCGGAGGGTCAG	0.532												
KDM3B	51780	broad.mit.edu	37	5	137729022	137729022	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr5:137729022A>G	uc003lcy.1	+	9	2992	c.2792A>G	c.(2791-2793)GAT>GGT	p.D931G	KDM3B_uc010jew.1_Missense_Mutation_p.D587G|KDM3B_uc011cys.1_5'UTR	NM_016604	NP_057688	Q7LBC6	KDM3B_HUMAN	jumonji domain containing 1B	931					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			ovary(3)|upper_aerodigestive_tract(2)|lung(2)|kidney(2)|central_nervous_system(1)|skin(1)	11						CAGGAGCAAGATGATTCTACT	0.488												
EGR1	1958	broad.mit.edu	37	5	137802740	137802740	+	Missense_Mutation	SNP	C	C	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr5:137802740C>A	uc003ldb.1	+	2	872	c.602C>A	c.(601-603)CCC>CAC	p.P201H	EGR1_uc011cyu.1_Intron	NM_001964	NP_001955	P18146	EGR1_HUMAN	early growth response 1	201					cellular response to heparin|cellular response to mycophenolic acid|glomerular mesangial cell proliferation|interleukin-1-mediated signaling pathway|positive regulation of glomerular metanephric mesangial cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of protein sumoylation|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytoplasm|nucleus	histone acetyltransferase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			GACAGCAGTCCCATTTACTCA	0.667												
PCDHA4	56144	broad.mit.edu	37	5	140187861	140187861	+	Silent	SNP	T	T	C			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr5:140187861T>C	uc003lhi.2	+	1	1190	c.1089T>C	c.(1087-1089)GCT>GCC	p.A363A	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhh.1_Silent_p.A363A|PCDHA4_uc011daa.1_Silent_p.A363A	NM_018907	NP_061730	Q9UN74	PCDA4_HUMAN	protocadherin alpha 4 isoform 1 precursor	363	Cadherin 4.|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)			GAGAGGACGCTCCACTGGGTA	0.488												
PCDHA9	9752	broad.mit.edu	37	5	140228550	140228550	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr5:140228550C>T	uc003lhu.2	+	1	1194	c.470C>T	c.(469-471)GCG>GTG	p.A157V	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_uc003lht.1_Missense_Mutation_p.A157V	NM_031857	NP_114063	Q9Y5H5	PCDA9_HUMAN	protocadherin alpha 9 isoform 1 precursor	157	Extracellular (Potential).|Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			large_intestine(2)|ovary(2)|skin(1)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTAGAGGGCGCGTCCGATGCA	0.532												
PCDHA10	56139	broad.mit.edu	37	5	140237067	140237067	+	Silent	SNP	G	G	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr5:140237067G>A	uc003lhx.2	+	1	1434	c.1434G>A	c.(1432-1434)GCG>GCA	p.A478A	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_Silent_p.A478A|PCDHA10_uc011dad.1_Silent_p.A478A	NM_018901	NP_061724	Q9Y5I2	PCDAA_HUMAN	protocadherin alpha 10 isoform 1 precursor	478	Cadherin 5.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding			ovary(2)|skin(2)|breast(1)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGGTGTCTGCGTGGGACGCGG	0.662												
PCDHA11	56138	broad.mit.edu	37	5	140250883	140250883	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr5:140250883C>T	uc003lia.2	+	1	3053	c.2195C>T	c.(2194-2196)GCG>GTG	p.A732V	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.A732V	NM_018902	NP_061725	Q9Y5I1	PCDAB_HUMAN	protocadherin alpha 11 isoform 1 precursor	732	Cytoplasmic (Potential).				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)			GGCGCGTGCGCGCCGGGGAAG	0.677												
PCDHB6	56130	broad.mit.edu	37	5	140531449	140531449	+	Silent	SNP	G	G	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr5:140531449G>A	uc003lir.2	+	1	1611	c.1611G>A	c.(1609-1611)CCG>CCA	p.P537P	PCDHB6_uc011dah.1_Silent_p.P401P	NM_018939	NP_061762	Q9Y5E3	PCDB6_HUMAN	protocadherin beta 6 precursor	537	Cadherin 5.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			skin(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCGGCTCCCCGGCGTTGAGCA	0.672												
PCDHB13	56123	broad.mit.edu	37	5	140594940	140594940	+	Silent	SNP	G	G	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr5:140594940G>A	uc003lja.1	+	1	1432	c.1245G>A	c.(1243-1245)GCG>GCA	p.A415A		NM_018933	NP_061756	Q9Y5F0	PCDBD_HUMAN	protocadherin beta 13 precursor	415	Cadherin 4.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			skin(2)|ovary(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AAAGCAGAGCGGAATACAACA	0.483												
PCDHGB2	56103	broad.mit.edu	37	5	140739873	140739873	+	Silent	SNP	C	C	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr5:140739873C>T	uc003ljs.1	+	1	171	c.171C>T	c.(169-171)AGC>AGT	p.S57S	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_uc011dar.1_Silent_p.S57S	NM_018923	NP_061746	Q9Y5G2	PCDGE_HUMAN	protocadherin gamma subfamily B, 2 isoform 1	57	Extracellular (Potential).|Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGGGCTCAGCGTCCGGGACT	0.557												
PCDHGB4	8641	broad.mit.edu	37	5	140769248	140769248	+	Silent	SNP	C	C	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr5:140769248C>T	uc003lkc.1	+	1	1797	c.1797C>T	c.(1795-1797)AAC>AAT	p.N599N	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_uc011dav.1_Silent_p.N599N	NM_003736	NP_003727	Q9UN71	PCDGG_HUMAN	protocadherin gamma subfamily B, 4 isoform 1	599	Extracellular (Potential).|Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGGACACAACGCCTGGCTGT	0.662												
PCDHGA8	9708	broad.mit.edu	37	5	140772597	140772597	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr5:140772597C>T	uc003lkd.1	+	1	1115	c.217C>T	c.(217-219)CAG>TAG	p.Q73*	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkb.3_Nonsense_Mutation_p.Q73*	NM_032088	NP_114477	Q9Y5G5	PCDG8_HUMAN	protocadherin gamma subfamily A, 8 isoform 1	73	Cadherin 1.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGTAGGACGCAGCTCTTTGC	0.607												
PCDHGA12	26025	broad.mit.edu	37	5	140812558	140812558	+	Silent	SNP	C	C	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr5:140812558C>T	uc003lkt.1	+	1	2401	c.2232C>T	c.(2230-2232)GAC>GAT	p.D744D	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkn.1_Intron|PCDHGA11_uc003lkp.1_Intron|PCDHGA11_uc003lkq.1_Intron|PCDHGA12_uc011dba.1_Silent_p.D744D	NM_003735	NP_003726	O60330	PCDGC_HUMAN	protocadherin gamma subfamily A, 12 isoform 1	744	Cytoplasmic (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)|pancreas(1)|skin(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGGCGTGGACGGGGTGCAGG	0.642												
FCHSD1	89848	broad.mit.edu	37	5	141028998	141028998	+	Silent	SNP	A	A	G			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr5:141028998A>G	uc003llk.2	-	5	390	c.339T>C	c.(337-339)GGT>GGC	p.G113G	FCHSD1_uc010jgg.2_5'Flank|FCHSD1_uc003llj.2_RNA	NM_033449	NP_258260	Q86WN1	FCSD1_HUMAN	FCH and double SH3 domains 1	113									FCHSD1/BRAF(2)	skin(2)|ovary(1)|central_nervous_system(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCCGCCCTGTACCCCCTGCTA	0.627												
PCDH1	5097	broad.mit.edu	37	5	141233894	141233894	+	Missense_Mutation	SNP	G	G	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr5:141233894G>T	uc003llp.2	-	5	3544	c.3427C>A	c.(3427-3429)CGC>AGC	p.R1143S		NM_032420	NP_115796	Q08174	PCDH1_HUMAN	protocadherin 1 isoform 2 precursor	Error:Variant_position_missing_in_Q08174_after_alignment					cell-cell signaling|homophilic cell adhesion|nervous system development	cell-cell junction|integral to plasma membrane	calcium ion binding			ovary(5)	5		Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;1.06e-05)		TTGGTCCGGCGGCTGGGAGAT	0.657												
SPINK5	11005	broad.mit.edu	37	5	147499622	147499622	+	Silent	SNP	C	C	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr5:147499622C>T	uc003lox.2	+	25	2437	c.2364C>T	c.(2362-2364)TGC>TGT	p.C788C	SPINK5_uc010jgr.2_Silent_p.C769C|SPINK5_uc003low.2_Silent_p.C788C|SPINK5_uc003loy.2_Silent_p.C788C	NM_006846	NP_006837	Q9NQ38	ISK5_HUMAN	serine peptidase inhibitor, Kazal type 5 isoform	788	Kazal-like 12.				anagen|epithelial cell differentiation|extracellular matrix organization|hair cell differentiation|negative regulation of angiogenesis|negative regulation of immune response|regulation of T cell differentiation	cell cortex|cytosol|endoplasmic reticulum membrane|extracellular region|lamellar body|perinuclear region of cytoplasm	serine-type endopeptidase inhibitor activity			skin(2)|ovary(1)|breast(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AACTCATCTGCACTCGAGAAA	0.378												
PCYOX1L	78991	broad.mit.edu	37	5	148747916	148747916	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr5:148747916G>A	uc003lqk.2	+	6	1246	c.1184G>A	c.(1183-1185)CGA>CAA	p.R395Q	PCYOX1L_uc003lql.2_Missense_Mutation_p.R378Q|PCYOX1L_uc010jgz.2_Missense_Mutation_p.R319Q|PCYOX1L_uc003lqm.2_Missense_Mutation_p.R277Q|PCYOX1L_uc003lqn.2_Missense_Mutation_p.R305Q	NM_024028	NP_076933	Q8NBM8	PCYXL_HUMAN	prenylcysteine oxidase 1 like precursor	395					prenylcysteine catabolic process	extracellular region	oxidoreductase activity, acting on a sulfur group of donors, oxygen as acceptor			skin(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTGTTTGGCGAGTCCAGTCC	0.572											OREG0016912	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
PDE6A	5145	broad.mit.edu	37	5	149314176	149314176	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr5:149314176C>T	uc003lrg.3	-	2	700	c.580G>A	c.(580-582)GCT>ACT	p.A194T		NM_000440	NP_000431	P16499	PDE6A_HUMAN	phosphodiesterase 6A	194	GAF 1.				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)			TTATTCACAGCCATGATTATG	0.458												
FAT2	2196	broad.mit.edu	37	5	150887067	150887067	+	Silent	SNP	G	G	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr5:150887067G>A	uc003lue.3	-	22	12178	c.12165C>T	c.(12163-12165)GCC>GCT	p.A4055A	GM2A_uc011dcs.1_Intron|FAT2_uc003lud.3_Silent_p.A662A	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	FAT tumor suppressor 2 precursor	4055	Helical; (Potential).				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			ovary(4)|upper_aerodigestive_tract(1)|skin(1)	6		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGAACGCCACGGCCACTGTGA	0.572												
ITK	3702	broad.mit.edu	37	5	156608073	156608073	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr5:156608073C>T	uc003lwo.1	+	1	167	c.85C>T	c.(85-87)CGC>TGC	p.R29C		NM_005546	NP_005537	Q08881	ITK_HUMAN	IL2-inducible T-cell kinase	29	PH.				cellular defense response|intracellular signal transduction|T cell receptor signaling pathway	cytosol|plasma membrane	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			lung(12)|ovary(8)|skin(4)|stomach(1)|central_nervous_system(1)	26	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.1)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CTTTAAAGTCCGCTTCTTTGT	0.398			T	SYK	peripheral T-cell lymphoma							
SOX30	11063	broad.mit.edu	37	5	157078490	157078490	+	Silent	SNP	C	C	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr5:157078490C>T	uc003lxb.1	-	1	939	c.597G>A	c.(595-597)GGG>GGA	p.G199G	SOX30_uc003lxc.1_Silent_p.G199G|SOX30_uc011dds.1_Intron	NM_178424	NP_848511	O94993	SOX30_HUMAN	SRY (sex determining region Y)-box 30 isoform a	199					regulation of transcription from RNA polymerase II promoter|regulation of transcription, DNA-dependent|response to corticosteroid stimulus|transcription, DNA-dependent	nucleus|nucleus	sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity			ovary(1)|central_nervous_system(1)	2	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TTTTGCCTGCCCCGCCTTGCA	0.657												
RNF145	153830	broad.mit.edu	37	5	158588398	158588398	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr5:158588398C>T	uc003lxp.2	-	10	1815	c.1502G>A	c.(1501-1503)CGG>CAG	p.R501Q	RNF145_uc011ddy.1_Missense_Mutation_p.R515Q|RNF145_uc003lxo.1_Missense_Mutation_p.R529Q|RNF145_uc011ddz.1_Missense_Mutation_p.R518Q|RNF145_uc010jiq.1_Missense_Mutation_p.R531Q	NM_144726	NP_653327	Q96MT1	RN145_HUMAN	ring finger protein 145	501	Helical; (Potential).					integral to membrane	zinc ion binding			ovary(3)|lung(1)|skin(1)	5	Renal(175;0.00196)	Medulloblastoma(196;0.0523)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CAGCTGGGCCCGAAGCCACAC	0.478												
FABP6	2172	broad.mit.edu	37	5	159661892	159661892	+	Missense_Mutation	SNP	G	G	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr5:159661892G>T	uc003lya.1	+	3	437	c.309G>T	c.(307-309)GAG>GAT	p.E103D	FABP6_uc003lxx.1_Missense_Mutation_p.E152D|FABP6_uc003lxz.1_Missense_Mutation_p.E152D	NM_001445	NP_001436	P51161	FABP6_HUMAN	gastrotropin isoform 2	103					bile acid and bile salt transport|bile acid metabolic process|negative regulation of cell proliferation	cytosol	transporter activity				0	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AGACCTCAGAGATCGTGGGTG	0.522												
GABRP	2568	broad.mit.edu	37	5	170232795	170232795	+	Missense_Mutation	SNP	G	G	A	rs150667747		TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr5:170232795G>A	uc003mau.2	+	7	815	c.617G>A	c.(616-618)CGG>CAG	p.R206Q	GABRP_uc011dev.1_Missense_Mutation_p.R206Q	NM_014211	NP_055026	O00591	GBRP_HUMAN	gamma-aminobutyric acid (GABA) A receptor, pi	206	Extracellular (Potential).					cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			breast(1)	1	Renal(175;0.000159)|Lung NSC(126;0.0122)|all_lung(126;0.0193)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			GAACACCTGCGGCTTGCTCAG	0.483												
NOP16	51491	broad.mit.edu	37	5	175811191	175811191	+	Missense_Mutation	SNP	C	C	T	rs140981968	by1000genomes	TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr5:175811191C>T	uc003mee.2	-	5	490	c.490G>A	c.(490-492)GGA>AGA	p.G164R	NOP16_uc003med.2_Missense_Mutation_p.G163R			Q9Y3C1	NOP16_HUMAN	SubName: Full=NOP16 protein; SubName: Full=Putative uncharacterized protein HSPC111;	Error:Variant_position_missing_in_Q9Y3C1_after_alignment						nucleolus				ovary(1)|central_nervous_system(1)	2						TTCACTGGTCCGGGGGACGCC	0.582												
DDX41	51428	broad.mit.edu	37	5	176940713	176940713	+	Silent	SNP	G	G	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr5:176940713G>A	uc003mho.2	-	10	1092	c.1071C>T	c.(1069-1071)GAC>GAT	p.D357D	DDX41_uc003mhm.2_Silent_p.D137D|DDX41_uc003mhn.2_Silent_p.D226D|DDX41_uc003mhp.2_Silent_p.D226D|DDX41_uc003mhq.1_Silent_p.D137D	NM_016222	NP_057306	Q9UJV9	DDX41_HUMAN	DEAD-box protein abstrakt	357	Helicase ATP-binding.				apoptosis|multicellular organismal development	catalytic step 2 spliceosome	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding|zinc ion binding				0	all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.191)			TGGTACGGATGTCACCCTCGA	0.622												
GRM6	2916	broad.mit.edu	37	5	178410138	178410138	+	Missense_Mutation	SNP	G	G	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr5:178410138G>T	uc003mjr.2	-	9	2388	c.2209C>A	c.(2209-2211)CAG>AAG	p.Q737K	GRM6_uc003mjq.2_Missense_Mutation_p.Q140K	NM_000843	NP_000834	O15303	GRM6_HUMAN	glutamate receptor, metabotropic 6 precursor	737	Extracellular (Potential).				detection of visible light|visual perception	integral to plasma membrane				lung(4)|ovary(2)|breast(1)|pancreas(1)	8	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)		CCTCTGGCCTGCTCGGGGTCC	0.627												
GRM6	2916	broad.mit.edu	37	5	178415995	178415995	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr5:178415995G>A	uc003mjr.2	-	6	1474	c.1295C>T	c.(1294-1296)GCG>GTG	p.A432V	GRM6_uc010jla.1_Missense_Mutation_p.A15V|GRM6_uc003mjs.1_Missense_Mutation_p.A52V	NM_000843	NP_000834	O15303	GRM6_HUMAN	glutamate receptor, metabotropic 6 precursor	432	Extracellular (Potential).				detection of visible light|visual perception	integral to plasma membrane				lung(4)|ovary(2)|breast(1)|pancreas(1)	8	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)		GGGTTCCATCGCCGGGCACAG	0.622												
FLT4	2324	broad.mit.edu	37	5	180047711	180047711	+	Silent	SNP	G	G	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr5:180047711G>A	uc003mma.3	-	16	2383	c.2304C>T	c.(2302-2304)TCC>TCT	p.S768S	FLT4_uc003mlz.3_Silent_p.S768S|FLT4_uc003mmb.1_Silent_p.S301S	NM_002020	NP_002011	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4 isoform 2	768	Extracellular (Potential).				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity			lung(7)|skin(2)|ovary(2)|stomach(1)|central_nervous_system(1)|breast(1)|kidney(1)	15	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|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)	all cancers(165;0.134)	Sorafenib(DB00398)|Sunitinib(DB01268)	CCTTATCCTCGGAGCCTGCGT	0.597									Congenital_Hereditary_Lymphedema			
TRIM7	81786	broad.mit.edu	37	5	180626983	180626983	+	Missense_Mutation	SNP	C	C	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr5:180626983C>A	uc003mmz.1	-	3	784	c.717G>T	c.(715-717)GAG>GAT	p.E239D	TRIM7_uc003mmv.1_Missense_Mutation_p.E57D|TRIM7_uc003mmw.1_Missense_Mutation_p.E31D|TRIM7_uc003mmx.1_Missense_Mutation_p.E31D|TRIM7_uc003mmy.1_Missense_Mutation_p.E31D	NM_203293	NP_976038	Q9C029	TRIM7_HUMAN	tripartite motif-containing 7 isoform 1	239	Potential.					cytoplasm|nucleus	zinc ion binding			ovary(2)|skin(1)	3	all_cancers(89;6.03e-06)|all_epithelial(37;7.1e-07)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.000172)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;2e-06)|Epithelial(171;1.35e-05)|OV - Ovarian serous cystadenocarcinoma(192;0.000128)|Kidney(146;0.0674)|GBM - Glioblastoma multiforme(465;0.0802)		GGGACAGTTCCTCCAGGCGGC	0.622												
F13A1	2162	broad.mit.edu	37	6	6318878	6318878	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr6:6318878G>A	uc003mwv.2	-	2	143	c.20C>T	c.(19-21)ACC>ATC	p.T7I	F13A1_uc011dib.1_Missense_Mutation_p.T7I	NM_000129	NP_000120	P00488	F13A_HUMAN	coagulation factor XIII A1 subunit precursor	7					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)	TCCAAAGGCGGTCCTGGAAGT	0.473												
DSP	1832	broad.mit.edu	37	6	7585229	7585229	+	Silent	SNP	C	C	T	rs28763970	byFrequency	TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr6:7585229C>T	uc003mxp.1	+	24	8013	c.7734C>T	c.(7732-7734)AGC>AGT	p.S2578S	DSP_uc003mxq.1_Silent_p.S1979S	NM_004415	NP_004406	P15924	DESP_HUMAN	desmoplakin isoform I	2578	Globular 2.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			central_nervous_system(6)|ovary(2)|skin(1)	9	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		GTGGTGTCAGCGATGATGTTT	0.478												
TBC1D7	51256	broad.mit.edu	37	6	13321315	13321315	+	Missense_Mutation	SNP	G	G	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr6:13321315G>T	uc003naj.2	-	4	297	c.206C>A	c.(205-207)CCA>CAA	p.P69Q	TBC1D7_uc011dis.1_RNA|TBC1D7_uc003nan.2_Missense_Mutation_p.P69Q|TBC1D7_uc003nal.2_Missense_Mutation_p.P69Q|TBC1D7_uc003nam.2_Missense_Mutation_p.P69Q|TBC1D7_uc003nao.2_Missense_Mutation_p.P42Q|TBC1D7_uc010jpd.2_Missense_Mutation_p.P69Q|TBC1D7_uc003nap.2_Missense_Mutation_p.P42Q|TBC1D7_uc003naq.2_Missense_Mutation_p.P42Q	NM_016495	NP_057579	Q9P0N9	TBCD7_HUMAN	TBC1 domain family, member 7 isoform a	69	Rab-GAP TBC.				positive regulation of protein ubiquitination	cytoplasmic membrane-bounded vesicle	protein binding|Rab GTPase activator activity			ovary(1)	1	Breast(50;0.0296)|Ovarian(93;0.0339)	all_hematologic(90;0.135)	Epithelial(50;0.0784)|BRCA - Breast invasive adenocarcinoma(129;0.13)|all cancers(50;0.21)			CTCGTGGTGTGGAGGCAAGAT	0.463												
KIF13A	63971	broad.mit.edu	37	6	17826300	17826300	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr6:17826300G>A	uc003ncg.3	-	15	1693	c.1588C>T	c.(1588-1590)CGA>TGA	p.R530*	KIF13A_uc003ncf.2_Nonsense_Mutation_p.R530*|KIF13A_uc003nch.3_Nonsense_Mutation_p.R530*|KIF13A_uc003nci.3_Nonsense_Mutation_p.R530*|KIF13A_uc003ncj.2_Nonsense_Mutation_p.R206*	NM_022113	NP_071396	Q9H1H9	KI13A_HUMAN	kinesin family member 13A isoform a	530					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)			CATAGGATTCGGTCACCATGC	0.413												
DCDC2	51473	broad.mit.edu	37	6	24175061	24175061	+	Missense_Mutation	SNP	G	G	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr6:24175061G>T	uc003ndx.2	-	10	1630	c.1328C>A	c.(1327-1329)GCT>GAT	p.A443D	DCDC2_uc003ndy.2_Missense_Mutation_p.A443D|DCDC2_uc003ndw.2_Missense_Mutation_p.A194D	NM_016356	NP_057440	Q9UHG0	DCDC2_HUMAN	doublecortin domain containing 2	443					cellular defense response|intracellular signal transduction|neuron migration					ovary(1)	1		Ovarian(999;0.101)				GTCTACATCAGCCTAGAAGAA	0.348												
ALDH5A1	7915	broad.mit.edu	37	6	24528248	24528248	+	Silent	SNP	C	C	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr6:24528248C>T	uc003neg.2	+	8	1225	c.1197C>T	c.(1195-1197)GCC>GCT	p.A399A	ALDH5A1_uc003nef.2_Silent_p.A412A	NM_001080	NP_001071	P51649	SSDH_HUMAN	aldehyde dehydrogenase 5A1 isoform 2 precursor	399					acetate metabolic process|central nervous system development|galactosylceramide metabolic process|gamma-aminobutyric acid catabolic process|glucose metabolic process|glutamate metabolic process|glutamine metabolic process|glutathione metabolic process|glycerophospholipid metabolic process|neurotransmitter catabolic process|neurotransmitter secretion|protein homotetramerization|respiratory electron transport chain|short-chain fatty acid metabolic process|succinate metabolic process	mitochondrial matrix|soluble fraction	succinate-semialdehyde dehydrogenase activity				0					Chlormerodrin(DB00534)|NADH(DB00157)|Succinic acid(DB00139)	TGAATGATGCCGTTTCTAAAG	0.413												
LRRC16A	55604	broad.mit.edu	37	6	25540216	25540216	+	Silent	SNP	G	G	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr6:25540216G>A	uc011djw.1	+	26	2614	c.2238G>A	c.(2236-2238)GCG>GCA	p.A746A	LRRC16A_uc010jpx.2_Silent_p.A746A|LRRC16A_uc010jpy.2_Silent_p.A746A|LRRC16A_uc003nfa.1_Silent_p.A100A	NM_017640	NP_060110	Q5VZK9	LR16A_HUMAN	leucine rich repeat containing 16A	746					actin filament organization|blood coagulation|cell migration|lamellipodium assembly|ruffle organization|urate metabolic process	cytosol|lamellipodium|nucleus				ovary(1)|breast(1)|central_nervous_system(1)|pancreas(1)	4						CATCTTGGGCGGGAGCCAGTG	0.398												
HIST1H2BB	3018	broad.mit.edu	37	6	26043776	26043776	+	Missense_Mutation	SNP	C	C	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr6:26043776C>A	uc003nfu.2	-	1	110	c.110G>T	c.(109-111)AGC>ATC	p.S37I	HIST1H3C_uc003nfv.2_5'Flank	NM_021062	NP_066406	P33778	H2B1B_HUMAN	histone cluster 1, H2bb	37					nucleosome assembly	nucleosome|nucleus	DNA binding				0						GATAGAATAGCTCTCCTTGCG	0.512												
BTN2A1	11120	broad.mit.edu	37	6	26468202	26468202	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr6:26468202G>A	uc003nib.1	+	8	1221	c.1009G>A	c.(1009-1011)GCT>ACT	p.A337T	BTN2A1_uc003nic.1_3'UTR|BTN2A1_uc003nid.1_Missense_Mutation_p.A185T|BTN2A1_uc011dko.1_Missense_Mutation_p.A276T|BTN2A1_uc010jqk.1_Missense_Mutation_p.A97T	NM_007049	NP_008980	Q7KYR7	BT2A1_HUMAN	butyrophilin, subfamily 2, member A1 isoform 1	337	Cytoplasmic (Potential).|B30.2/SPRY.				lipid metabolic process	integral to plasma membrane				ovary(1)|skin(1)	2						TCCAGACACCGCTCATCCCGA	0.577												
PGBD1	84547	broad.mit.edu	37	6	28269790	28269790	+	Missense_Mutation	SNP	T	T	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr6:28269790T>A	uc003nky.2	+	7	2529	c.2159T>A	c.(2158-2160)ATC>AAC	p.I720N	PGBD1_uc003nkz.2_Missense_Mutation_p.I720N	NM_032507	NP_115896	Q96JS3	PGBD1_HUMAN	piggyBac transposable element derived 1	720					viral reproduction	membrane|nucleus	scavenger receptor activity|sequence-specific DNA binding transcription factor activity			ovary(4)	4						AACGAAGAAATCCCTCAGATA	0.413												
SCAND3	114821	broad.mit.edu	37	6	28541299	28541299	+	Silent	SNP	T	T	C			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr6:28541299T>C	uc003nlo.2	-	4	2985	c.2367A>G	c.(2365-2367)TCA>TCG	p.S789S		NM_052923	NP_443155	Q6R2W3	SCND3_HUMAN	SCAN domain containing 3	789					DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			ovary(1)	1						cttttggttgtgaacttattt	0												
OR2B3	442184	broad.mit.edu	37	6	29054462	29054462	+	Silent	SNP	T	T	C			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr6:29054462T>C	uc003nlx.2	-	1	629	c.564A>G	c.(562-564)TCA>TCG	p.S188S		NM_001005226	NP_001005226			olfactory receptor, family 2, subfamily B,											skin(1)	1						TGTCAGCACATGACAACTTGA	0.458												
MAS1L	116511	broad.mit.edu	37	6	29455673	29455673	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr6:29455673A>G	uc011dlq.1	-	1	7	c.7T>C	c.(7-9)TGG>CGG	p.W3R		NM_052967	NP_443199	P35410	MAS1L_HUMAN	MAS1 oncogene-like	3	Extracellular (Potential).					cytoplasm|integral to membrane|nucleus|plasma membrane	G-protein coupled receptor activity			ovary(7)|lung(2)	9						ATTTTCCCCCAGACCATGGGG	0.547												
ZFP57	346171	broad.mit.edu	37	6	29641061	29641061	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr6:29641061C>T	uc011dlw.1	-	4	978	c.827G>A	c.(826-828)CGC>CAC	p.R276H	ZFP57_uc003nnl.3_Missense_Mutation_p.R256H	NM_001109809	NP_001103279	Q9NU63	ZFP57_HUMAN	zinc finger protein 57 homolog	192	C2H2-type 4.				DNA methylation involved in embryo development|regulation of gene expression by genetic imprinting|transcription, DNA-dependent		DNA binding|zinc ion binding	p.R276R(1)		ovary(3)|skin(2)	5						CTTCTGGTGGCGTTTGAGCTC	0.567												
HLA-G	3135	broad.mit.edu	37	6	29795994	29795994	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr6:29795994G>A	uc003nnw.2	+	3	422	c.244G>A	c.(244-246)GAG>AAG	p.E82K	HLA-G_uc011dmb.1_Missense_Mutation_p.E54K|HLA-G_uc003raj.3_Missense_Mutation_p.E87K|HLA-G_uc003nnz.3_Missense_Mutation_p.E82K|HLA-G_uc010jrn.2_Missense_Mutation_p.E82K|HLA-G_uc003nny.3_RNA|HLA-G_uc003ran.1_5'Flank	NM_002127	NP_002118	P17693	HLAG_HUMAN	major histocompatibility complex, class I, G	82	Extracellular (Potential).|Alpha-1.				antigen processing and presentation of peptide antigen via MHC class I|cellular defense response|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway	integral to membrane|MHC class I protein complex	MHC class I receptor activity			ovary(3)|central_nervous_system(1)	4						GGAGGGGCCGGAGTATTGGGA	0.647												
MDC1	9656	broad.mit.edu	37	6	30671881	30671881	+	Silent	SNP	C	C	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr6:30671881C>T	uc003nrg.3	-	10	5519	c.5079G>A	c.(5077-5079)CCG>CCA	p.P1693P	MDC1_uc003nrf.3_Intron|MDC1_uc011dmp.1_Silent_p.P1300P	NM_014641	NP_055456	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	1693					cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding			breast(2)|ovary(1)|kidney(1)	4						TGGTAGGAACCGGCATAGCTC	0.542								Other_conserved_DNA_damage_response_genes				
VARS2	57176	broad.mit.edu	37	6	30890973	30890973	+	Silent	SNP	T	T	C			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr6:30890973T>C	uc003nsc.1	+	23	2910	c.2278T>C	c.(2278-2280)TTA>CTA	p.L760L	VARS2_uc011dmx.1_Silent_p.L760L|VARS2_uc011dmy.1_Silent_p.L620L|VARS2_uc011dmz.1_Silent_p.L790L|VARS2_uc011dna.1_Silent_p.L758L|VARS2_uc011dnb.1_RNA|VARS2_uc011dnc.1_RNA|VARS2_uc011dnd.1_Silent_p.L198L|VARS2_uc010jsg.1_Silent_p.L132L|VARS2_uc010jsh.1_5'UTR	NM_020442	NP_065175	Q5ST30	SYVM_HUMAN	valyl-tRNA synthetase 2, mitochondrial	760					valyl-tRNA aminoacylation	mitochondrion	ATP binding|valine-tRNA ligase activity			ovary(3)|central_nervous_system(1)	4						CCTCAATGCTTTAGGGGAGAA	0.532												
ATP6V1G2	534	broad.mit.edu	37	6	31513913	31513913	+	Missense_Mutation	SNP	C	C	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr6:31513913C>A	uc003nua.2	-	2	447	c.156G>T	c.(154-156)GAG>GAT	p.E52D	BAT1_uc003ntv.2_5'UTR|ATP6V1G2_uc003ntz.2_Missense_Mutation_p.E11D|NFKBIL1_uc011dnr.1_5'Flank|NFKBIL1_uc011dns.1_5'Flank|NFKBIL1_uc011dnt.1_5'Flank|NFKBIL1_uc003nuc.2_5'Flank|NFKBIL1_uc003nub.2_5'Flank	NM_130463	NP_569730	O95670	VATG2_HUMAN	ATPase, H+ transporting, lysosomal, V1 subunit	52					cellular iron ion homeostasis|insulin receptor signaling pathway|proton transport|transferrin transport	cytosol|melanosome|vacuolar proton-transporting V-type ATPase complex	hydrolase activity, acting on acid anhydrides, catalyzing transmembrane movement of substances|protein binding				0						GGAATTCGTGCTCTCGCTCTC	0.582												
EHMT2	10919	broad.mit.edu	37	6	31855364	31855364	+	Silent	SNP	G	G	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr6:31855364G>A	uc003nxz.1	-	15	2011	c.2001C>T	c.(1999-2001)ATC>ATT	p.I667I	EHMT2_uc003nxv.1_5'Flank|EHMT2_uc003nxw.1_5'Flank|EHMT2_uc003nxx.1_5'Flank|EHMT2_uc003nxy.1_Silent_p.I458I|EHMT2_uc011don.1_Silent_p.I690I|EHMT2_uc003nya.1_Silent_p.I633I	NM_006709	NP_006700	Q96KQ7	EHMT2_HUMAN	euchromatic histone-lysine N-methyltransferase 2	667	ANK 1.				DNA methylation|peptidyl-lysine dimethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding			ovary(1)	1						ACAGCATCAGGATCACCTTCT	0.383												
C4A	720	broad.mit.edu	37	6	31994882	31994882	+	Silent	SNP	C	C	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr6:31994882C>T	uc011dpd.1	+	20	2626	c.2575C>T	c.(2575-2577)CTG>TTG	p.L859L	C4A_uc011dpe.1_Silent_p.L859L	NM_007293	NP_009224	P0C0L4	CO4A_HUMAN	complement component 4A preproprotein	859					complement activation, classical pathway|inflammatory response|innate immune response	extracellular space	endopeptidase inhibitor activity				0						CTATAACTACCTGGATAAAAA	0.637												
NOTCH4	4855	broad.mit.edu	37	6	32164828	32164828	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr6:32164828T>C	uc003obb.2	-	28	5213	c.5074A>G	c.(5074-5076)ACT>GCT	p.T1692A	GPSM3_uc003oaz.2_5'Flank|NOTCH4_uc011dpt.1_Missense_Mutation_p.T101A|NOTCH4_uc003oba.2_Missense_Mutation_p.T352A|NOTCH4_uc011dpu.1_RNA|NOTCH4_uc011dpv.1_RNA|NOTCH4_uc011dpw.1_Missense_Mutation_p.T101A	NM_004557	NP_004548	Q99466	NOTC4_HUMAN	notch4 preproprotein	1692	Cytoplasmic (Potential).|ANK 2.				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						TCCACTGCAGTTTGTCTGCTA	0.592												
HLA-DRA	3122	broad.mit.edu	37	6	32410443	32410443	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr6:32410443C>T	uc003obh.2	+	2	382	c.301C>T	c.(301-303)CGC>TGC	p.R101C	HLA-DRA_uc003obi.2_Missense_Mutation_p.R101C	NM_019111	NP_061984	P01903	DRA_HUMAN	major histocompatibility complex, class II, DR	101	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|Golgi apparatus|integral to plasma membrane|late endosome membrane|lysosomal membrane|MHC class II protein complex	MHC class II receptor activity			ovary(1)|skin(1)	2						CATGACAAAGCGCTCCAACTA	0.488									T-cell_Lymphoma_(Cutaneous)__Familial_Clustering_of|Kaposi_Sarcoma_Familial_Clustering_of			
BRD2	6046	broad.mit.edu	37	6	32943277	32943277	+	Silent	SNP	C	C	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr6:32943277C>T	uc003ocn.3	+	4	2151	c.450C>T	c.(448-450)ACC>ACT	p.T150T	BRD2_uc003oco.2_RNA|BRD2_uc003ocq.3_Silent_p.T150T|BRD2_uc003ocp.3_Silent_p.T30T|BRD2_uc010juh.2_Silent_p.T150T	NM_005104	NP_005095	P25440	BRD2_HUMAN	bromodomain containing 2	150	Bromo 1.				spermatogenesis	nucleus	protein serine/threonine kinase activity			central_nervous_system(3)|stomach(2)	5						CCATGTTCACCAACTGTTACA	0.353												
WDR46	9277	broad.mit.edu	37	6	33255222	33255222	+	Silent	SNP	G	G	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr6:33255222G>A	uc003ods.2	-	8	833	c.789C>T	c.(787-789)GAC>GAT	p.D263D	WDR46_uc011dra.1_Silent_p.D209D|WDR46_uc010juo.1_RNA|PFDN6_uc003odt.1_5'Flank|PFDN6_uc010jup.1_5'Flank	NM_005452	NP_005443	O15213	WDR46_HUMAN	WD repeat domain 46 isoform 1	263	WD 2.										0						TGCCCTGATTGTCATAGATGT	0.552												
ITPR3	3710	broad.mit.edu	37	6	33658716	33658716	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr6:33658716A>G	uc011drk.1	+	52	7274	c.7055A>G	c.(7054-7056)GAG>GGG	p.E2352G	ITPR3_uc003oey.2_Missense_Mutation_p.E439G	NM_002224	NP_002215	Q14573	ITPR3_HUMAN	inositol 1,4,5-triphosphate receptor, type 3	2352	Cytoplasmic (Potential).				activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding			ovary(6)|lung(5)|central_nervous_system(5)|breast(2)|kidney(1)	19						ATCTACCGCGAGGAGACGCTG	0.607												
SRPK1	6732	broad.mit.edu	37	6	35825051	35825051	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr6:35825051C>T	uc003olj.2	-	13	1730	c.1607G>A	c.(1606-1608)AGC>AAC	p.S536N	SRPK1_uc011dtg.1_Missense_Mutation_p.S520N|SRPK1_uc003olh.2_Missense_Mutation_p.S429N|SRPK1_uc003oli.2_Missense_Mutation_p.S429N	NM_003137	NP_003128	Q96SB4	SRPK1_HUMAN	SFRS protein kinase 1	536	Protein kinase.				cell differentiation|chromosome segregation|interspecies interaction between organisms|intracellular protein kinase cascade|mRNA processing|negative regulation of viral genome replication|positive regulation of viral genome replication|regulation of mRNA processing|RNA splicing	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			ovary(1)	1						GCATGCCGTGCTCCAAATGTC	0.398												
PIM1	5292	broad.mit.edu	37	6	37139205	37139205	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr6:37139205T>C	uc003onk.2	+	4	975	c.545T>C	c.(544-546)CTC>CCC	p.L182P	PIM1_uc011dtw.1_5'Flank	NM_002648	NP_002639	P11309	PIM1_HUMAN	non-specific serine/threonine protein kinase	273	Protein kinase.				cell cycle|cell proliferation|multicellular organismal development|negative regulation of apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|protein autophosphorylation	cytoplasm|nucleus|plasma membrane	ATP binding|manganese ion binding|protein binding|protein binding|protein serine/threonine kinase activity|transcription factor binding			large_intestine(1)|central_nervous_system(1)	2			OV - Ovarian serous cystadenocarcinoma(102;0.241)		Adenosine monophosphate(DB00131)	CGCGGCGAGCTCAAGCTCATC	0.642			T	BCL6	NHL							
FTSJD2	23070	broad.mit.edu	37	6	37445388	37445388	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr6:37445388T>C	uc003ons.2	+	21	2379	c.2126T>C	c.(2125-2127)CTG>CCG	p.L709P		NM_015050	NP_055865	Q8N1G2	MTR1_HUMAN	FtsJ methyltransferase domain containing 2	709					mRNA capping	cytoplasm|nucleus	mRNA (nucleoside-2'-O-)-methyltransferase activity|nucleic acid binding			ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	5						GTGTACAGACTGGAAGAGATG	0.557												
GLP1R	2740	broad.mit.edu	37	6	39041530	39041530	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr6:39041530G>A	uc003ooj.3	+	7	868	c.808G>A	c.(808-810)GTG>ATG	p.V270M	GLP1R_uc003ooh.2_RNA|GLP1R_uc003ooi.2_RNA	NM_002062	NP_002053	P43220	GLP1R_HUMAN	glucagon-like peptide 1 receptor precursor	270	Helical; Name=4; (Potential).				activation of adenylate cyclase activity|cAMP-mediated signaling|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|regulation of insulin secretion	integral to membrane|plasma membrane	glucagon receptor activity|peptide receptor activity, G-protein coupled			lung(3)|breast(1)|pancreas(1)	5					Exenatide(DB01276)|Glucagon recombinant(DB00040)	CAGGCTCTACGTGAGCATAGG	0.567												
FOXP4	116113	broad.mit.edu	37	6	41533642	41533642	+	Silent	SNP	G	G	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr6:41533642G>A	uc003oql.2	+	2	602	c.144G>A	c.(142-144)ACG>ACA	p.T48T	FOXP4_uc003oqm.2_Silent_p.T48T|FOXP4_uc003oqn.2_Silent_p.T48T	NM_001012426	NP_001012426	Q8IVH2	FOXP4_HUMAN	forkhead box P4 isoform 1	48					embryonic foregut morphogenesis|heart development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|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|zinc ion binding			breast(1)	1	Ovarian(28;0.0327)|Colorectal(47;0.196)					AAGTGACCACGGGTGCAGACA	0.637												
PRICKLE4	29964	broad.mit.edu	37	6	41753259	41753259	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr6:41753259G>A	uc011duf.1	+	6	811	c.563G>A	c.(562-564)CGC>CAC	p.R188H	PRICKLE4_uc003ord.2_RNA|TOMM6_uc003org.2_5'Flank|TOMM6_uc011dug.1_5'Flank	NM_013397	NP_037529	Q2TBC4	PRIC4_HUMAN	over-expressed breast tumor protein	148	LIM zinc-binding 2.					nucleus	zinc ion binding				0	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;8.38e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			CTGCGCCCGCGCTGCCCGGCT	0.612												
TRERF1	55809	broad.mit.edu	37	6	42231260	42231260	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr6:42231260G>A	uc003osd.2	-	8	2245	c.1682C>T	c.(1681-1683)CCG>CTG	p.P561L	TRERF1_uc011duq.1_Intron|TRERF1_uc003osb.2_Intron|TRERF1_uc003osc.2_Intron|TRERF1_uc003ose.2_Missense_Mutation_p.P561L	NM_033502	NP_277037	Q96PN7	TREF1_HUMAN	transcriptional regulating factor 1	561	Pro-rich.|Interacts with CREBBP.				cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process	nucleus	DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription cofactor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding			ovary(3)|pancreas(1)|skin(1)	5	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			aggcggaggcggcagtggtgg	0.378												
GNMT	27232	broad.mit.edu	37	6	42930849	42930849	+	Missense_Mutation	SNP	C	C	T	rs139815680		TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr6:42930849C>T	uc003otd.2	+	4	497	c.491C>T	c.(490-492)GCG>GTG	p.A164V	uc003ote.1_5'Flank	NM_018960	NP_061833	Q14749	GNMT_HUMAN	glycine N-methyltransferase	164					protein homotetramerization|protein modification process|S-adenosylmethionine metabolic process		folic acid binding|glycine binding|glycine N-methyltransferase activity				0	Colorectal(47;0.196)		all cancers(41;0.00196)|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;0.0461)		Glycine(DB00145)|S-Adenosylmethionine(DB00118)	AAAAACATTGCGAGCATGGTG	0.597												
SLC22A7	10864	broad.mit.edu	37	6	43271811	43271811	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr6:43271811G>A	uc003out.2	+	10	1520	c.1421G>A	c.(1420-1422)CGG>CAG	p.R474Q	SLC22A7_uc003ous.2_Missense_Mutation_p.R472Q	NM_153320	NP_696961	Q9Y694	S22A7_HUMAN	solute carrier family 22 member 7 isoform b	474	Helical; (Potential).					basolateral plasma membrane|integral to plasma membrane|membrane fraction	anion:anion antiporter activity|sodium-independent organic anion transmembrane transporter activity				0			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00998)|OV - Ovarian serous cystadenocarcinoma(102;0.0305)			CTGGTGGGCCGGCTGGGGGGC	0.627												
CD2AP	23607	broad.mit.edu	37	6	47563667	47563667	+	Silent	SNP	T	T	C			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr6:47563667T>C	uc003oyw.2	+	12	1635	c.1179T>C	c.(1177-1179)ACT>ACC	p.T393T		NM_012120	NP_036252	Q9Y5K6	CD2AP_HUMAN	CD2-associated protein	393	Pro-rich.|SH3-binding (Potential).				cell division|mitosis|protein complex assembly|signal transduction|substrate-dependent cell migration, cell extension	cytoplasm|filamentous actin|nucleolus|plasma membrane|ruffle	SH3 domain binding|structural constituent of cytoskeleton			ovary(1)|skin(1)	2			Lung(136;0.105)|LUSC - Lung squamous cell carcinoma(51;0.138)			AGAAACCTACTCCACCTACCA	0.413												
HMGCLL1	54511	broad.mit.edu	37	6	55300543	55300543	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr6:55300543C>T	uc003pcn.2	-	10	1189	c.1030G>A	c.(1030-1032)GTG>ATG	p.V344M	HMGCLL1_uc003pco.2_Missense_Mutation_p.V314M|HMGCLL1_uc010jzx.2_Missense_Mutation_p.V215M|HMGCLL1_uc011dxc.1_Missense_Mutation_p.V282M|HMGCLL1_uc011dxd.1_Missense_Mutation_p.V211M|HMGCLL1_uc011dxe.1_Missense_Mutation_p.V148M	NM_019036	NP_061909	Q8TB92	HMGC2_HUMAN	3-hydroxymethyl-3-methylglutaryl-Coenzyme A	344							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)			GCTTCCATCACTTTGTATAGA	0.358												
BMP5	653	broad.mit.edu	37	6	55620338	55620338	+	Missense_Mutation	SNP	C	C	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr6:55620338C>A	uc003pcq.2	-	7	2070	c.1358G>T	c.(1357-1359)TGC>TTC	p.C453F	BMP5_uc011dxf.1_Missense_Mutation_p.C416F	NM_021073	NP_066551	P22003	BMP5_HUMAN	bone morphogenetic protein 5 preproprotein	453					cartilage development|cell differentiation|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity			ovary(2)	2	Lung NSC(77;0.0462)		LUSC - Lung squamous cell carcinoma(124;0.181)			ATATTAGTGGCAGCCACATGA	0.328												
DST	667	broad.mit.edu	37	6	56506814	56506814	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr6:56506814C>T	uc003pdf.2	-	16	1887	c.1859G>A	c.(1858-1860)CGC>CAC	p.R620H	DST_uc003pcz.3_Missense_Mutation_p.R442H|DST_uc011dxj.1_Missense_Mutation_p.R471H|DST_uc011dxk.1_Missense_Mutation_p.R482H|DST_uc011dxl.1_Missense_Mutation_p.R471H|DST_uc003pcy.3_Missense_Mutation_p.R116H|DST_uc003pdb.2_Missense_Mutation_p.R116H|DST_uc003pdc.3_Missense_Mutation_p.R116H|DST_uc003pdd.3_Missense_Mutation_p.R116H|DST_uc003pde.2_Missense_Mutation_p.R558H	NM_001144769	NP_001138241	Q03001	DYST_HUMAN	dystonin isoform 2	442					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)			TACATGCTGGCGTAAAAGGTT	0.358												
PHF3	23469	broad.mit.edu	37	6	64422545	64422545	+	Silent	SNP	C	C	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr6:64422545C>T	uc003pep.1	+	15	5087	c.5061C>T	c.(5059-5061)AAC>AAT	p.N1687N	PHF3_uc003pen.2_Silent_p.N1599N|PHF3_uc011dxs.1_Silent_p.N956N	NM_015153	NP_055968	Q92576	PHF3_HUMAN	PHD finger protein 3	1687					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)			TGTCACACAACAAGGAGCACT	0.428												
EYS	346007	broad.mit.edu	37	6	66205020	66205020	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr6:66205020G>A	uc011dxu.1	-	4	822	c.284C>T	c.(283-285)TCT>TTT	p.S95F	EYS_uc003peq.2_Missense_Mutation_p.S95F|EYS_uc003per.1_Missense_Mutation_p.S95F|EYS_uc010kaj.1_RNA	NM_001142800	NP_001136272	Q5T1H1	EYS_HUMAN	eyes shut homolog isoform 1	95					response to stimulus|visual perception	extracellular region	calcium ion binding			lung(4)|ovary(1)|skin(1)	6						AAATTGAAGAGATGGTTCAGA	0.363												
COL12A1	1303	broad.mit.edu	37	6	75893741	75893741	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr6:75893741C>T	uc003phs.2	-	9	1283	c.1117G>A	c.(1117-1119)GCA>ACA	p.A373T	COL12A1_uc003pht.2_Intron|COL12A1_uc003phu.1_Missense_Mutation_p.A31T	NM_004370	NP_004361	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1 long isoform	373	Fibronectin type-III 2.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			ovary(6)|large_intestine(1)|breast(1)|skin(1)	9						CGGCTTCCTGCAGTCATTGGT	0.493												
MYO6	4646	broad.mit.edu	37	6	76540214	76540214	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr6:76540214T>C	uc003pih.1	+	5	622	c.343T>C	c.(343-345)TAT>CAT	p.Y115H	MYO6_uc003pig.1_Missense_Mutation_p.Y115H|MYO6_uc003pii.1_Missense_Mutation_p.Y115H	NM_004999	NP_004990	Q9UM54	MYO6_HUMAN	myosin VI	115	Myosin head-like.				actin filament-based movement|DNA damage response, signal transduction by p53 class mediator|endocytosis|intracellular protein transport|positive regulation of transcription from RNA polymerase II promoter|regulation of secretion|sensory perception of sound|synaptic transmission	cell cortex|clathrin coated vesicle membrane|coated pit|cytosol|DNA-directed RNA polymerase II, holoenzyme|filamentous actin|Golgi apparatus|nuclear membrane|perinuclear region of cytoplasm|ruffle membrane|unconventional myosin complex	actin filament binding|ADP binding|ATP binding|calmodulin binding|minus-end directed microfilament motor activity|protein binding			kidney(1)|pancreas(1)	2		all_hematologic(105;0.189)		BRCA - Breast invasive adenocarcinoma(397;0.223)		AATAAAGTCATATCAAGGAAA	0.308												
IMPG1	3617	broad.mit.edu	37	6	76660365	76660365	+	Missense_Mutation	SNP	G	G	A	rs142123216		TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr6:76660365G>A	uc003pik.1	-	13	1868	c.1738C>T	c.(1738-1740)CGT>TGT	p.R580C		NM_001563	NP_001554	Q17R60	IMPG1_HUMAN	interphotoreceptor matrix proteoglycan 1	580	SEA 2.				visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity			ovary(2)|skin(1)	3		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				TTAGCAACACGCAGACTGAAG	0.517												
TBX18	9096	broad.mit.edu	37	6	85446535	85446535	+	Silent	SNP	C	C	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr6:85446535C>T	uc003pkl.1	-	8	1692	c.1692G>A	c.(1690-1692)ACG>ACA	p.T564T	TBX18_uc010kbq.1_Intron	NM_001080508	NP_001073977	O95935	TBX18_HUMAN	T-box 18	564					multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(2)|pancreas(2)|lung(1)	5		all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858)		BRCA - Breast invasive adenocarcinoma(108;0.0267)		TCTGCCGATCCGTCATGGTCC	0.522												
MDN1	23195	broad.mit.edu	37	6	90402760	90402760	+	Missense_Mutation	SNP	A	A	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr6:90402760A>T	uc003pnn.1	-	63	10105	c.9989T>A	c.(9988-9990)ATC>AAC	p.I3330N		NM_014611	NP_055426	Q9NU22	MDN1_HUMAN	MDN1, midasin homolog	3330					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			ovary(8)|skin(2)	10		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		GTAGTGGTGGATCTCCTGAAC	0.572												
FUT9	10690	broad.mit.edu	37	6	96651915	96651915	+	Missense_Mutation	SNP	C	C	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr6:96651915C>A	uc003pop.3	+	3	1225	c.884C>A	c.(883-885)CCC>CAC	p.P295H		NM_006581	NP_006572	Q9Y231	FUT9_HUMAN	fucosyltransferase 9 (alpha (1,3)	295	Lumenal (Potential).				L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity			skin(4)|ovary(1)	5		all_cancers(76;4.77e-07)|Acute lymphoblastic leukemia(125;4.01e-09)|all_hematologic(75;1.25e-06)|all_epithelial(107;0.00279)|Colorectal(196;0.0356)		BRCA - Breast invasive adenocarcinoma(108;0.08)		TATAACTCTCCCAGTGAGCTA	0.393												
KLHL32	114792	broad.mit.edu	37	6	97562222	97562222	+	Silent	SNP	G	G	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr6:97562222G>A	uc010kcm.1	+	7	1663	c.1191G>A	c.(1189-1191)GAG>GAA	p.E397E	KLHL32_uc003poy.2_Silent_p.E397E|KLHL32_uc011ead.1_Silent_p.E361E|KLHL32_uc003poz.2_Intron|KLHL32_uc011eae.1_Silent_p.E328E|KLHL32_uc003ppa.2_Intron	NM_052904	NP_443136	Q96NJ5	KLH32_HUMAN	kelch-like 32	397	Kelch 2.									ovary(3)|skin(1)	4		all_cancers(76;1.19e-06)|Acute lymphoblastic leukemia(125;5.83e-10)|all_hematologic(75;3.67e-07)|all_epithelial(107;0.00778)|Colorectal(196;0.122)		BRCA - Breast invasive adenocarcinoma(108;0.0558)		GTGCCATGGAGGAATACCTCT	0.517												
POU3F2	5454	broad.mit.edu	37	6	99283635	99283635	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr6:99283635G>A	uc003ppe.2	+	1	1056	c.886G>A	c.(886-888)GGC>AGC	p.G296S		NM_005604	NP_005595	P20265	PO3F2_HUMAN	POU domain, class 3, transcription factor 2	296	POU-specific.				positive regulation of cell proliferation		identical protein binding|sequence-specific DNA binding transcription factor activity				0		all_cancers(76;1.56e-06)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00893)|Colorectal(196;0.069)|Lung NSC(302;0.197)		BRCA - Breast invasive adenocarcinoma(108;0.0355)		GCTGGCTCTGGGCACCCTGTA	0.582												
BVES	11149	broad.mit.edu	37	6	105577343	105577343	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr6:105577343G>A	uc003pqw.2	-	3	419	c.262C>T	c.(262-264)CGA>TGA	p.R88*	BVES_uc003pqx.2_Nonsense_Mutation_p.R88*|BVES_uc003pqy.2_Nonsense_Mutation_p.R88*	NM_147147	NP_671488	Q8NE79	POPD1_HUMAN	blood vessel epicardial substance isoform 5	88	Helical; (Potential).				epithelial cell-cell adhesion|muscle organ development|positive regulation of locomotion|positive regulation of receptor recycling|regulation of Cdc42 GTPase activity|regulation of cell shape|regulation of Rac GTPase activity|substrate adhesion-dependent cell spreading|vesicle-mediated transport	integral to membrane|lateral plasma membrane|tight junction	structural molecule activity				0		all_cancers(87;2.83e-05)|Acute lymphoblastic leukemia(125;1.95e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0101)|Colorectal(196;0.204)|Lung NSC(302;0.238)				AAGGCACATCGGTAGAGAGTG	0.393												
ARMC2	84071	broad.mit.edu	37	6	109285402	109285402	+	Silent	SNP	G	G	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr6:109285402G>A	uc003pss.3	+	16	2346	c.2172G>A	c.(2170-2172)GCG>GCA	p.A724A	ARMC2_uc011eao.1_Silent_p.A559A	NM_032131	NP_115507	Q8NEN0	ARMC2_HUMAN	armadillo repeat containing 2	724	ARM 11.						binding				0		all_cancers(87;1.14e-07)|Acute lymphoblastic leukemia(125;2.3e-10)|all_hematologic(75;3.3e-08)|all_epithelial(87;0.000111)|Colorectal(196;0.03)|all_lung(197;0.11)		Epithelial(106;0.000197)|BRCA - Breast invasive adenocarcinoma(108;0.000236)|all cancers(137;0.000279)|OV - Ovarian serous cystadenocarcinoma(136;0.00434)		TCATGATGGCGCTGCTGGATG	0.473												
ZBTB24	9841	broad.mit.edu	37	6	109787338	109787338	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr6:109787338T>C	uc003ptl.1	-	7	1978	c.1810A>G	c.(1810-1812)AAT>GAT	p.N604D	MICAL1_uc011eaq.1_5'Flank|ZBTB24_uc011ear.1_RNA|ZBTB24_uc010kds.1_Missense_Mutation_p.N548D|ZBTB24_uc010kdt.1_RNA	NM_014797	NP_055612	O43167	ZBT24_HUMAN	zinc finger and BTB domain containing 24 isoform	604					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			ovary(1)|central_nervous_system(1)|pancreas(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;0.0154)|all cancers(137;0.0216)|OV - Ovarian serous cystadenocarcinoma(136;0.0242)|BRCA - Breast invasive adenocarcinoma(108;0.059)		AGAATTAAATTCTGCAGTTGC	0.493												
AKD1	221264	broad.mit.edu	37	6	109815261	109815261	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr6:109815261G>A	uc003ptn.2	-	40	5533	c.5456C>T	c.(5455-5457)GCG>GTG	p.A1819V	AKD1_uc011eas.1_Missense_Mutation_p.A204V	NM_001145128	NP_001138600	Q5TCS8	AKD1_HUMAN	adenylate kinase domain containing 1 isoform 1	1819					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|nucleoside-triphosphatase activity			ovary(1)	1						TAAGCATCCCGCTGCATTCAT	0.368												
DSE	29940	broad.mit.edu	37	6	116747964	116747964	+	Missense_Mutation	SNP	C	C	T	rs112379267	byFrequency	TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr6:116747964C>T	uc003pws.2	+	3	838	c.644C>T	c.(643-645)ACG>ATG	p.T215M	DSE_uc011ebf.1_Missense_Mutation_p.T215M|DSE_uc011ebg.1_Missense_Mutation_p.T234M|DSE_uc003pwt.2_Missense_Mutation_p.T215M	NM_001080976	NP_001074445	Q9UL01	DSE_HUMAN	dermatan sulfate epimerase precursor	215					dermatan sulfate biosynthetic process	endoplasmic reticulum|Golgi apparatus|integral to membrane	chondroitin-glucuronate 5-epimerase activity			ovary(1)	1		all_cancers(87;0.00019)|all_epithelial(87;0.000416)|Ovarian(999;0.133)|Colorectal(196;0.234)		Epithelial(106;0.00915)|OV - Ovarian serous cystadenocarcinoma(136;0.0149)|GBM - Glioblastoma multiforme(226;0.0189)|all cancers(137;0.0262)		GCTTTGCTCACGGGAAGCCTA	0.488												
RSPH4A	345895	broad.mit.edu	37	6	116938281	116938281	+	Silent	SNP	C	C	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr6:116938281C>T	uc003pxe.2	+	1	640	c.495C>T	c.(493-495)GAC>GAT	p.D165D	RSPH4A_uc010kee.2_Silent_p.D165D	NM_001010892	NP_001010892	Q5TD94	RSH4A_HUMAN	radial spoke head 4 homolog A isoform 1	165					cilium axoneme assembly|cilium movement	cytoplasm|cytoskeleton|radial spoke					0						GACGAAGGGACGTGAGCTATA	0.478									Kartagener_syndrome			
NCOA7	135112	broad.mit.edu	37	6	126210800	126210800	+	Missense_Mutation	SNP	C	C	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr6:126210800C>A	uc010kes.2	+	11	2049	c.1600C>A	c.(1600-1602)CCA>ACA	p.P534T	NCOA7_uc003qae.3_Missense_Mutation_p.P534T|NCOA7_uc003qah.2_Missense_Mutation_p.P523T|NCOA7_uc003qai.2_Missense_Mutation_p.P534T|NCOA7_uc010ket.2_Missense_Mutation_p.P419T	NM_181782	NP_861447	Q8NI08	NCOA7_HUMAN	nuclear receptor coactivator 7 isoform 1	534					cell wall macromolecule catabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			lung(2)|ovary(1)	3				UCEC - Uterine corpus endometrioid carcinoma (4;0.0803)|GBM - Glioblastoma multiforme(226;0.0193)|all cancers(137;0.237)		CAAAGAAGGGCCACAGGTATC	0.378												
TRMT11	60487	broad.mit.edu	37	6	126319758	126319758	+	Silent	SNP	T	T	G			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr6:126319758T>G	uc003qam.2	+	6	571	c.450T>G	c.(448-450)TCT>TCG	p.S150S	TRMT11_uc003qan.2_RNA|TRMT11_uc010kev.2_Silent_p.S150S	NM_001031712	NP_001026882	Q7Z4G4	TRM11_HUMAN	tRNA methyltransferase 11	150					tRNA processing		methyltransferase activity|nucleic acid binding			ovary(1)	1				GBM - Glioblastoma multiforme(226;0.0356)		ATGTATTTTCTGTTTTGGAGG	0.338												
C6orf174	387104	broad.mit.edu	37	6	127797085	127797085	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr6:127797085C>T	uc003qbd.2	-	6	2951	c.2086G>A	c.(2086-2088)GCC>ACC	p.A696T	C6orf174_uc003qbc.2_5'Flank	NM_001012279	NP_001012279	Q5TF21	CF174_HUMAN	hypothetical protein LOC387104 precursor	696	Potential.					integral to membrane				breast(3)|ovary(2)|skin(1)	6				GBM - Glioblastoma multiforme(226;0.026)|all cancers(137;0.161)		TCGGTCTTGGCGTTGTCGTGG	0.647												
MOXD1	26002	broad.mit.edu	37	6	132645229	132645229	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr6:132645229T>C	uc003qdf.2	-	7	1053	c.954A>G	c.(952-954)ATA>ATG	p.I318M	MOXD1_uc003qde.2_Missense_Mutation_p.I250M	NM_015529	NP_056344	Q6UVY6	MOXD1_HUMAN	monooxygenase, DBH-like 1 isoform 2	318	Lumenal (Potential).				catecholamine metabolic process	endoplasmic reticulum membrane|integral to membrane	copper ion binding|dopamine beta-monooxygenase activity			ovary(1)	1	Breast(56;0.0495)			OV - Ovarian serous cystadenocarcinoma(155;0.0132)|GBM - Glioblastoma multiforme(226;0.0191)		CAGAATTATCTATTAAGCCTA	0.348												
SLC35D3	340146	broad.mit.edu	37	6	137243812	137243812	+	Silent	SNP	G	G	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr6:137243812G>A	uc003qhe.2	+	1	411	c.246G>A	c.(244-246)GCG>GCA	p.A82A		NM_001008783	NP_001008783	Q5M8T2	S35D3_HUMAN	solute carrier family 35, member D3	82	Helical; (Potential).				carbohydrate transport	integral to membrane				ovary(1)|central_nervous_system(1)	2	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000136)|OV - Ovarian serous cystadenocarcinoma(155;0.00365)		CGGGGGTCGCGGTGCTCTCCA	0.721												
AIG1	51390	broad.mit.edu	37	6	143605337	143605337	+	Missense_Mutation	SNP	A	A	G	rs114392595	by1000genomes	TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr6:143605337A>G	uc003qjh.2	+	4	530	c.490A>G	c.(490-492)ACC>GCC	p.T164A	AIG1_uc003qjf.2_Missense_Mutation_p.T154A|AIG1_uc003qji.2_Missense_Mutation_p.T102A	NM_016108	NP_057192	Q9NVV5	AIG1_HUMAN	androgen-induced 1	164						integral to membrane					0				OV - Ovarian serous cystadenocarcinoma(155;2.34e-05)|GBM - Glioblastoma multiforme(68;0.0246)		CGCCATATGTACCTTCTCTGT	0.428												
STX11	8676	broad.mit.edu	37	6	144508353	144508353	+	Missense_Mutation	SNP	G	G	A	rs141499372	by1000genomes	TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr6:144508353G>A	uc003qks.3	+	2	781	c.589G>A	c.(589-591)GTG>ATG	p.V197M		NM_003764	NP_003755	O75558	STX11_HUMAN	syntaxin 11	197					cellular membrane fusion|intracellular protein transport|vesicle-mediated transport	Golgi apparatus|membrane	SNAP receptor activity			ovary(1)|central_nervous_system(1)	2				OV - Ovarian serous cystadenocarcinoma(155;2.17e-06)|GBM - Glioblastoma multiforme(68;0.0492)		GCTGGCCGACGTGAAGGGCGC	0.632									Familial_Hemophagocytic_Lymphohistiocytosis			
STXBP5	134957	broad.mit.edu	37	6	147612300	147612300	+	Silent	SNP	T	T	C			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr6:147612300T>C	uc003qlz.2	+	9	1070	c.909T>C	c.(907-909)ACT>ACC	p.T303T	STXBP5_uc010khz.1_Silent_p.T303T|STXBP5_uc003qlx.2_RNA|STXBP5_uc003qly.2_5'UTR	NM_001127715	NP_001121187	Q5T5C0	STXB5_HUMAN	syntaxin binding protein 5 (tomosyn) isoform b	303	WD 6.				exocytosis|positive regulation of exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|nicotinic acetylcholine-gated receptor-channel complex|synaptic vesicle	syntaxin-1 binding				0		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694)		TCAAAACGACTAGATCTGGGT	0.333												
PLEKHG1	57480	broad.mit.edu	37	6	151130286	151130286	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr6:151130286A>G	uc003qny.1	+	9	1270	c.958A>G	c.(958-960)AGC>GGC	p.S320G	PLEKHG1_uc011eel.1_Missense_Mutation_p.S360G|PLEKHG1_uc011eem.1_Missense_Mutation_p.S379G|PLEKHG1_uc003qnz.2_Missense_Mutation_p.S320G	NM_001029884	NP_001025055	Q9ULL1	PKHG1_HUMAN	pleckstrin homology domain containing, family G	320	PH.				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			ovary(2)	2			BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)		AGACCTGACCAGCTACGGGGA	0.557												
SYNE1	23345	broad.mit.edu	37	6	152570298	152570298	+	Missense_Mutation	SNP	C	C	G			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr6:152570298C>G	uc010kiw.2	-	105	20172	c.19570G>C	c.(19570-19572)GAG>CAG	p.E6524Q	SYNE1_uc010kiv.2_Missense_Mutation_p.E1048Q|SYNE1_uc003qos.3_Missense_Mutation_p.E1048Q|SYNE1_uc003qot.3_Missense_Mutation_p.E6453Q|SYNE1_uc003qou.3_Missense_Mutation_p.E6524Q	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	6524	Potential.|Cytoplasmic (Potential).				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		ATAAATACCTCTATTTGTTCT	0.358										HNSCC(10;0.0054)		
SYNE1	23345	broad.mit.edu	37	6	152765568	152765568	+	Missense_Mutation	SNP	T	T	G			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr6:152765568T>G	uc010kiw.2	-	30	4417	c.3815A>C	c.(3814-3816)CAG>CCG	p.Q1272P	SYNE1_uc003qot.3_Missense_Mutation_p.Q1279P|SYNE1_uc003qou.3_Missense_Mutation_p.Q1272P|SYNE1_uc010kjb.1_Missense_Mutation_p.Q1255P|SYNE1_uc003qow.2_Missense_Mutation_p.Q567P|SYNE1_uc003qox.1_Missense_Mutation_p.Q788P	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1272	Potential.|Cytoplasmic (Potential).				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		AAGTAACTGCTGTGCTTCAAA	0.353										HNSCC(10;0.0054)		
PARK2	5071	broad.mit.edu	37	6	161969941	161969941	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr6:161969941G>A	uc003qtx.3	-	9	1162	c.1028C>T	c.(1027-1029)CCG>CTG	p.P343L	PARK2_uc003qtv.3_Intron|PARK2_uc010kkd.2_Missense_Mutation_p.P152L|PARK2_uc003qtw.3_Missense_Mutation_p.P152L|PARK2_uc003qty.3_Missense_Mutation_p.P315L|PARK2_uc003qtz.3_Missense_Mutation_p.P194L|PARK2_uc010kke.1_Missense_Mutation_p.P362L|PARK2_uc011egf.1_Missense_Mutation_p.P17L	NM_004562	NP_004553	O60260	PRKN2_HUMAN	parkin isoform 1	343	IBR-type.				aggresome assembly|central nervous system development|mitochondrion degradation|negative regulation of actin filament bundle assembly|negative regulation of cell death|negative regulation of protein phosphorylation|negative regulation of release of cytochrome c from mitochondria|neuron death|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autoubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein monoubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of autophagy|regulation of reactive oxygen species metabolic process	aggresome|cytosol|endoplasmic reticulum|Golgi apparatus|mitochondrion|nucleus|perinuclear region of cytoplasm	chaperone binding|PDZ domain binding|protein kinase binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			upper_aerodigestive_tract(1)	1		all_cancers(1;8.13e-65)|all_epithelial(1;5.77e-64)|Colorectal(1;9.65e-15)|all_lung(1;1.66e-13)|Lung NSC(1;7.54e-11)|Melanoma(1;1.75e-09)|Breast(66;7.81e-05)|Ovarian(120;0.000981)|Prostate(117;0.0288)|Esophageal squamous(34;0.102)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0663)|all cancers(1;1.9e-63)|Epithelial(1;1.5e-59)|Colorectal(1;2.16e-23)|OV - Ovarian serous cystadenocarcinoma(65;3.53e-20)|COAD - Colon adenocarcinoma(1;2.11e-15)|STAD - Stomach adenocarcinoma(1;4.64e-07)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|READ - Rectum adenocarcinoma(1;2.95e-06)|GBM - Glioblastoma multiforme(2;7.23e-06)|Lung(1;0.00163)|KIRC - Kidney renal clear cell carcinoma(4;0.00371)|LUSC - Lung squamous cell carcinoma(1;0.00442)|Kidney(4;0.0046)		GTCAGGCTCCGGCAGCAGCCC	0.637												
PDE10A	10846	broad.mit.edu	37	6	165832261	165832261	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr6:165832261T>C	uc003qun.2	-	12	1071	c.830A>G	c.(829-831)TAT>TGT	p.Y277C	PDE10A_uc011egj.1_RNA|PDE10A_uc011egk.1_Missense_Mutation_p.Y207C|PDE10A_uc003quo.2_Missense_Mutation_p.Y287C	NM_006661	NP_006652	Q9Y233	PDE10_HUMAN	phosphodiesterase 10A isoform 2	277	GAF 2.				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding			ovary(3)|skin(2)	5		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	Dipyridamole(DB00975)	GTTTTTTGCATATATCTAAAG	0.353												
MAD1L1	8379	broad.mit.edu	37	7	2255914	2255914	+	Silent	SNP	C	C	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr7:2255914C>T	uc003slh.1	-	8	953	c.687G>A	c.(685-687)GAG>GAA	p.E229E	MAD1L1_uc003sle.1_5'Flank|MAD1L1_uc003slf.1_Silent_p.E229E|MAD1L1_uc003slg.1_Silent_p.E229E|MAD1L1_uc010ksh.1_Silent_p.E229E|MAD1L1_uc003sli.1_Silent_p.E137E|MAD1L1_uc010ksi.1_Silent_p.E182E|MAD1L1_uc010ksj.2_Silent_p.E229E	NM_001013836	NP_001013858	Q9Y6D9	MD1L1_HUMAN	MAD1-like 1 protein	229	Potential.				cell division|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase|mitotic prometaphase|mitotic telophase	actin cytoskeleton|centrosome|condensed chromosome kinetochore|cytosol|mitochondrion|nucleus|spindle	protein binding			lung(1)|central_nervous_system(1)	2		Ovarian(82;0.0272)		UCEC - Uterine corpus endometrioid carcinoma (27;0.134)|OV - Ovarian serous cystadenocarcinoma(56;3.63e-14)		ACAGCTTCTGCTCCAGATCCT	0.343												
SDK1	221935	broad.mit.edu	37	7	4215451	4215451	+	Missense_Mutation	SNP	A	A	C			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr7:4215451A>C	uc003smx.2	+	34	5120	c.4981A>C	c.(4981-4983)ATG>CTG	p.M1661L	SDK1_uc010kso.2_Intron|SDK1_uc003smy.2_Missense_Mutation_p.M148L	NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN	sidekick 1 precursor	1661	Fibronectin type-III 10.				cell adhesion	integral to membrane				large_intestine(3)|ovary(2)|skin(1)	6		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		CACATCGACGATGTGTGAACT	0.577												
KIAA0415	9907	broad.mit.edu	37	7	4823986	4823986	+	Silent	SNP	G	G	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr7:4823986G>T	uc003sne.2	+	6	857	c.774G>T	c.(772-774)CCG>CCT	p.P258P	KIAA0415_uc010ksp.2_RNA	NM_014855	NP_055670	O43299	K0415_HUMAN	hypothetical protein LOC9907	258					cell death|double-strand break repair via homologous recombination	cytoplasm|nucleus	protein binding			central_nervous_system(1)	1		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.091)|OV - Ovarian serous cystadenocarcinoma(56;8.35e-15)		CCGAGGGCCCGGGCACCCTGG	0.697												
RADIL	55698	broad.mit.edu	37	7	4917428	4917428	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr7:4917428C>T	uc003snj.1	-	2	516	c.343G>A	c.(343-345)GTG>ATG	p.V115M	RADIL_uc003sng.1_RNA|RADIL_uc011jwd.1_RNA	NM_018059	NP_060529	Q96JH8	RADIL_HUMAN	Rap GTPase interactor	115	Ras-associating.				cell adhesion|multicellular organismal development|signal transduction		protein binding			lung(2)|central_nervous_system(2)|pancreas(2)|breast(1)	7		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15)		TGGCCCACCACGTCACACAGC	0.672												
DAGLB	221955	broad.mit.edu	37	7	6456270	6456270	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr7:6456270C>T	uc003sqa.2	-	11	1585	c.1415G>A	c.(1414-1416)CGG>CAG	p.R472Q	DAGLB_uc003spy.2_Missense_Mutation_p.R18Q|DAGLB_uc003spz.2_Missense_Mutation_p.R169Q|DAGLB_uc011jwt.1_Missense_Mutation_p.R286Q|DAGLB_uc011jwu.1_Missense_Mutation_p.R343Q|DAGLB_uc003sqb.2_Missense_Mutation_p.R191Q|DAGLB_uc003sqc.2_Missense_Mutation_p.R191Q|DAGLB_uc011jwv.1_Intron|DAGLB_uc003sqd.3_Missense_Mutation_p.R431Q|DAGLB_uc011jww.1_RNA	NM_139179	NP_631918	Q8NCG7	DGLB_HUMAN	diacylglycerol lipase, beta isoform 1	472	Cytoplasmic (Potential).				lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity	p.R472R(1)		ovary(2)|central_nervous_system(1)	3		Ovarian(82;0.232)		UCEC - Uterine corpus endometrioid carcinoma (126;0.102)		CCACAGCCCCCGGGGTGGGGA	0.552												
STK31	56164	broad.mit.edu	37	7	23826129	23826129	+	Silent	SNP	C	C	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr7:23826129C>A	uc003sws.3	+	19	2344	c.2277C>A	c.(2275-2277)GGC>GGA	p.G759G	STK31_uc003swt.3_Silent_p.G736G|STK31_uc011jze.1_Silent_p.G759G|STK31_uc010kuq.2_Silent_p.G736G|STK31_uc003swv.1_5'Flank	NM_031414	NP_113602	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31 isoform a	759	Protein kinase.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity			skin(3)|lung(2)|ovary(2)|stomach(2)	9						GGTACAAGGGCTATTCTGTGG	0.368												
OSBPL3	26031	broad.mit.edu	37	7	24849497	24849497	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr7:24849497C>T	uc003sxf.2	-	20	2651	c.2246G>A	c.(2245-2247)CGG>CAG	p.R749Q	OSBPL3_uc003sxd.2_RNA|OSBPL3_uc003sxe.2_RNA|OSBPL3_uc003sxg.2_Missense_Mutation_p.R713Q|OSBPL3_uc003sxh.2_Missense_Mutation_p.R718Q|OSBPL3_uc003sxi.2_Missense_Mutation_p.R682Q	NM_015550	NP_056365	Q9H4L5	OSBL3_HUMAN	oxysterol-binding protein-like protein 3 isoform	749					lipid transport		lipid binding|protein binding			skin(1)	1						CCCAAACAGCCGATGAACCGC	0.502												
NOD1	10392	broad.mit.edu	37	7	30496526	30496526	+	Missense_Mutation	SNP	C	C	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr7:30496526C>A	uc003tav.2	-	4	535	c.12G>T	c.(10-12)CAG>CAT	p.Q4H	NOD1_uc010kvs.2_Missense_Mutation_p.Q4H|NOD1_uc003tax.2_RNA|NOD1_uc003tay.2_RNA|NOD1_uc010kvt.2_RNA|NOD1_uc010kvu.2_RNA	NM_006092	NP_006083	Q9Y239	NOD1_HUMAN	nucleotide-binding oligomerization domain	4					activation of MAPK activity|detection of bacterium|induction of apoptosis|inflammatory response|innate immune response|interleukin-8 biosynthetic process|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of dendritic cell antigen processing and presentation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein oligomerization|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	basolateral plasma membrane|cytosol	ATP binding|CARD domain binding|caspase activator activity|peptidoglycan binding|protein homodimerization activity			ovary(1)|skin(1)	2						CACTGTGGCCCTGCTCTTCCA	0.488												
PGAM2	5224	broad.mit.edu	37	7	44105067	44105067	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr7:44105067C>T	uc003tjs.2	-	1	97	c.62G>A	c.(61-63)CGT>CAT	p.R21H		NM_000290	NP_000281	P15259	PGAM2_HUMAN	phosphoglycerate mutase 2	21					gluconeogenesis|glycolysis|striated muscle contraction	cytosol	2,3-bisphospho-D-glycerate 2-phosphohydrolase activity|bisphosphoglycerate mutase activity				0						GCCACAGAAACGGTTCTCCTG	0.612												
POLM	27434	broad.mit.edu	37	7	44112896	44112896	+	Silent	SNP	G	G	A	rs146318307	byFrequency	TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr7:44112896G>A	uc003tjt.2	-	11	1571	c.1479C>T	c.(1477-1479)AAC>AAT	p.N493N	POLM_uc003tjw.1_Missense_Mutation_p.T130M|POLM_uc003tju.2_Silent_p.N456N|POLM_uc003tjx.2_Missense_Mutation_p.T431M|POLM_uc003tjv.2_RNA|POLM_uc011kbt.1_Missense_Mutation_p.T161M	NM_013284	NP_037416	Q9NP87	DPOLM_HUMAN	DNA-directed DNA polymerase mu	493					DNA recombination|DNA repair	nucleus	DNA binding|DNA nucleotidylexotransferase activity|DNA-directed DNA polymerase activity|metal ion binding			ovary(2)|central_nervous_system(1)	3						AGGCTCAGGCGTTTCTCTGCT	0.562								DNA_polymerases_(catalytic_subunits)				
AEBP1	165	broad.mit.edu	37	7	44149841	44149841	+	Silent	SNP	G	G	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr7:44149841G>A	uc003tkb.2	+	11	1601	c.1296G>A	c.(1294-1296)GCG>GCA	p.A432A	AEBP1_uc003tkc.3_5'Flank|AEBP1_uc003tkd.2_5'Flank	NM_001129	NP_001120	Q8IUX7	AEBP1_HUMAN	adipocyte enhancer binding protein 1 precursor	432	Required for DNA-binding and interaction with NFKBIA (By similarity).|F5/8 type C.|Interaction with MAPK1 and MAPK3 (By similarity).				cell adhesion|muscle organ development|proteolysis|skeletal system development	cytoplasm|extracellular space|nucleus	DNA binding|metallocarboxypeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding				0						ATGATGGTGCGTGGTGTGCCG	0.627												
GBAS	2631	broad.mit.edu	37	7	56051483	56051483	+	Silent	SNP	G	G	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr7:56051483G>A	uc003tre.1	+	6	515	c.507G>A	c.(505-507)CTG>CTA	p.L169L	GBAS_uc003trf.1_Silent_p.L130L	NM_001483	NP_001474	O75323	NIPS2_HUMAN	nipsnap homolog 2	169						integral to plasma membrane|membrane fraction|mitochondrion	protein binding			central_nervous_system(1)	1	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			ATCAGCTCCTGTTGGAGTTCA	0.393												
ZNF107	51427	broad.mit.edu	37	7	64166846	64166846	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr7:64166846C>T	uc003ttd.2	+	7	950	c.164C>T	c.(163-165)ACG>ATG	p.T55M	ZNF107_uc003tte.2_Missense_Mutation_p.T55M	NM_016220	NP_057304	Q9UII5	ZN107_HUMAN	zinc finger protein 107	55					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)				GATGAGTGTACGGGGCACAAA	0.343												
MLXIPL	51085	broad.mit.edu	37	7	73010239	73010239	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr7:73010239G>A	uc003tyn.1	-	14	2167	c.2119C>T	c.(2119-2121)CGT>TGT	p.R707C	MLXIPL_uc003tyj.1_Missense_Mutation_p.R86C|MLXIPL_uc003tyk.1_Missense_Mutation_p.R686C|MLXIPL_uc003tyl.1_Missense_Mutation_p.R705C|MLXIPL_uc003tym.1_Missense_Mutation_p.R688C|MLXIPL_uc003tyo.1_RNA|MLXIPL_uc003typ.1_Missense_Mutation_p.R613C	NM_032951	NP_116569	Q9NP71	WBS14_HUMAN	Williams Beuren syndrome chromosome region 14	707	Leucine-zipper.				anatomical structure morphogenesis|energy reserve metabolic process|glucose mediated signaling pathway|intracellular protein kinase cascade|negative regulation of cell cycle arrest|negative regulation of oxidative phosphorylation|negative regulation of peptidyl-serine phosphorylation|positive regulation of cell proliferation|positive regulation of fatty acid biosynthetic process|positive regulation of glycolysis|positive regulation of transcription from RNA polymerase II promoter|triglyceride homeostasis	cytosol|transcription factor complex	carbohydrate response element binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding			pancreas(1)	1		Lung NSC(55;0.0659)|all_lung(88;0.152)				AAGCCCGCACGCTCCTGCTGT	0.622												
HIP1	3092	broad.mit.edu	37	7	75176318	75176318	+	Silent	SNP	G	G	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr7:75176318G>A	uc003uds.1	-	25	2519	c.2478C>T	c.(2476-2478)TGC>TGT	p.C826C	HIP1_uc011kfz.1_Intron	NM_005338	NP_005329	O00291	HIP1_HUMAN	huntingtin interacting protein 1	826	I/LWEQ.				activation of caspase activity|cell differentiation|clathrin coat assembly|endocytosis|induction of apoptosis|positive regulation of receptor-mediated endocytosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	clathrin coated vesicle membrane|cytoskeleton|Golgi apparatus|membrane fraction|nucleus	actin binding|clathrin binding|phosphatidylinositol binding|structural constituent of cytoskeleton			lung(3)|pancreas(2)|ovary(1)|breast(1)|central_nervous_system(1)	8						GGCTGGTACAGCAACCAAGGA	0.532			T	PDGFRB	CMML							
STYXL1	51657	broad.mit.edu	37	7	75633122	75633122	+	Silent	SNP	C	C	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr7:75633122C>T	uc003uej.3	-	7	824	c.651G>A	c.(649-651)CCG>CCA	p.P217P	STYXL1_uc003uef.2_Silent_p.P23P|STYXL1_uc011kgf.1_Silent_p.P79P|STYXL1_uc011kgg.1_Silent_p.P69P|STYXL1_uc003ueh.2_Silent_p.P79P|STYXL1_uc003uek.3_Silent_p.P121P|STYXL1_uc003uel.2_Silent_p.P217P|STYXL1_uc003uem.2_Silent_p.P217P|STYXL1_uc010ldg.1_RNA|STYXL1_uc010ldh.1_Silent_p.P217P|STYXL1_uc003uen.1_Silent_p.P217P	NM_016086	NP_057170	Q9Y6J8	STYL1_HUMAN	map kinase phosphatase-like protein MK-STYX	217	Tyrosine-protein phosphatase.				intracellular signal transduction|protein dephosphorylation	intracellular	protein binding|protein tyrosine/serine/threonine phosphatase activity				0						TCTGGGCTTCCGGGGAATCTT	0.542												
CACNA2D1	781	broad.mit.edu	37	7	81598254	81598254	+	Missense_Mutation	SNP	C	C	G			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr7:81598254C>G	uc003uhr.1	-	29	2600	c.2344G>C	c.(2344-2346)GTA>CTA	p.V782L	CACNA2D1_uc011kgy.1_Intron	NM_000722	NP_000713	P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha	794	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)	GCTTTGCTTACCATAATGCCC	0.274												
CACNA2D1	781	broad.mit.edu	37	7	81964453	81964453	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr7:81964453C>T	uc003uhr.1	-	3	548	c.292G>A	c.(292-294)GTG>ATG	p.V98M		NM_000722	NP_000713	P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha	98	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)	AAACTCACCACCAGGGCTTTA	0.368												
PCLO	27445	broad.mit.edu	37	7	82785291	82785291	+	Missense_Mutation	SNP	C	C	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr7:82785291C>A	uc003uhx.2	-	2	955	c.666G>T	c.(664-666)CAG>CAT	p.Q222H	PCLO_uc003uhv.2_Missense_Mutation_p.Q222H	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	piccolo isoform 1	222	Gln-rich.|Pro-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			ovary(7)	7						CAGGTCCTTGCTGCTTAGGAA	0.448												
SEMA3E	9723	broad.mit.edu	37	7	83119491	83119491	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr7:83119491A>G	uc003uhy.1	-	2	681	c.215T>C	c.(214-216)GTG>GCG	p.V72A		NM_012431	NP_036563	O15041	SEM3E_HUMAN	semaphorin 3E precursor	72	Sema.				axon guidance	extracellular space|membrane	receptor activity	p.V72L(1)		ovary(3)	3		Medulloblastoma(109;0.109)				CCTGCCTCCCACGAAGAGCCT	0.408												
GRM3	2913	broad.mit.edu	37	7	86468787	86468787	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr7:86468787G>A	uc003uid.2	+	4	3056	c.1957G>A	c.(1957-1959)GCT>ACT	p.A653T	GRM3_uc010lef.2_Intron|GRM3_uc010leg.2_Missense_Mutation_p.A525T|GRM3_uc010leh.2_Missense_Mutation_p.A245T	NM_000840	NP_000831	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3 precursor	653	Helical; Name=3; (Potential).				synaptic transmission	integral to plasma membrane				lung(4)|ovary(3)|central_nervous_system(2)|skin(2)|haematopoietic_and_lymphoid_tissue(1)|prostate(1)	13	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	GAGTTCCTTCGCTATCTGTTA	0.537												
ABCB4	5244	broad.mit.edu	37	7	87092221	87092221	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr7:87092221G>A	uc003uiv.1	-	4	215	c.139C>T	c.(139-141)CGA>TGA	p.R47*	ABCB4_uc003uiw.1_Nonsense_Mutation_p.R47*|ABCB4_uc003uix.1_Nonsense_Mutation_p.R47*|ABCB4_uc003uiy.2_Nonsense_Mutation_p.R47*	NM_018849	NP_061337	P21439	MDR3_HUMAN	ATP-binding cassette, subfamily B, member 4	47	Cytoplasmic (By similarity).				cellular lipid metabolic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity			ovary(4)|skin(1)|pancreas(1)	6	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)					TCGGAGTATCGAAACTAAAAA	0.358												
ADAM22	53616	broad.mit.edu	37	7	87762257	87762257	+	Silent	SNP	C	C	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr7:87762257C>T	uc003ujn.2	+	12	1147	c.1068C>T	c.(1066-1068)GGC>GGT	p.G356G	ADAM22_uc003ujk.1_Silent_p.G356G|ADAM22_uc003ujl.1_Silent_p.G356G|ADAM22_uc003ujm.2_Silent_p.G356G|ADAM22_uc003ujo.2_Silent_p.G356G|ADAM22_uc003ujp.1_Silent_p.G408G	NM_021723	NP_068369	Q9P0K1	ADA22_HUMAN	ADAM metallopeptidase domain 22 isoform 1	356	Peptidase M12B.|Extracellular (Potential).				cell adhesion|central nervous system development|negative regulation of cell adhesion|proteolysis	integral to membrane	integrin binding|metalloendopeptidase activity|protein binding|receptor activity|zinc ion binding			ovary(4)|skin(2)|lung(1)|kidney(1)	8	Esophageal squamous(14;0.00202)		STAD - Stomach adenocarcinoma(171;0.215)			AAGGAGGAGGCGTGAATGAAG	0.403												
MGC26647	219557	broad.mit.edu	37	7	88423902	88423902	+	Missense_Mutation	SNP	T	T	G			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr7:88423902T>G	uc003ujv.2	-	2	537	c.355A>C	c.(355-357)AAA>CAA	p.K119Q	ZNF804B_uc011khi.1_Intron	NM_152706	NP_689919	Q8TBZ9	CG062_HUMAN	hypothetical protein LOC219557	119											0	Esophageal squamous(14;0.00802)|all_hematologic(106;0.109)|Lung NSC(181;0.168)|all_lung(186;0.169)		STAD - Stomach adenocarcinoma(171;0.229)			GTTTCATCTTTGACATGGCCA	0.358												
ZNF804B	219578	broad.mit.edu	37	7	88965252	88965252	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr7:88965252G>A	uc011khi.1	+	4	3494	c.2956G>A	c.(2956-2958)GCA>ACA	p.A986T		NM_181646	NP_857597	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	986						intracellular	zinc ion binding			ovary(5)|skin(3)|pancreas(2)|upper_aerodigestive_tract(1)	11	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			AATACAGTATGCAAGTGAGAG	0.393										HNSCC(36;0.09)		
SAMD9	54809	broad.mit.edu	37	7	92732152	92732152	+	Missense_Mutation	SNP	C	C	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr7:92732152C>A	uc003umf.2	-	3	3515	c.3259G>T	c.(3259-3261)GCG>TCG	p.A1087S	SAMD9_uc003umg.2_Missense_Mutation_p.A1087S	NM_017654	NP_060124	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	1087						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)			CTTGCCAACGCTTGGCAAATG	0.358												
CASD1	64921	broad.mit.edu	37	7	94167072	94167072	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr7:94167072A>G	uc003uni.3	+	9	1359	c.1132A>G	c.(1132-1134)ATG>GTG	p.M378V	CASD1_uc003unh.2_3'UTR|CASD1_uc003unj.3_Missense_Mutation_p.M378V	NM_022900	NP_075051	Q96PB1	CASD1_HUMAN	CAS1 domain containing 1 precursor	378	Helical; (Potential).					integral to membrane				ovary(2)	2	all_cancers(62;6.71e-10)|all_epithelial(64;5e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			TGGCCTGATTATGGCATATTT	0.313												
BAIAP2L1	55971	broad.mit.edu	37	7	97937118	97937118	+	Missense_Mutation	SNP	G	G	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr7:97937118G>T	uc003upj.2	-	10	1309	c.1046C>A	c.(1045-1047)CCG>CAG	p.P349Q	uc003upk.1_5'Flank	NM_018842	NP_061330	Q9UHR4	BI2L1_HUMAN	BAI1-associated protein 2-like 1	349	SH3.				filopodium assembly|positive regulation of actin cytoskeleton reorganization|positive regulation of actin filament polymerization|response to bacterium|signal transduction	cell junction|cytoskeleton|cytosol|nucleus	actin binding|cytoskeletal adaptor activity|proline-rich region binding|SH3 domain binding			ovary(1)	1	all_cancers(62;4.34e-10)|all_epithelial(64;5e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0113)|all_lung(186;0.0126)		STAD - Stomach adenocarcinoma(171;0.215)			CGCAGTGTGCGGGAAGATGGT	0.522												
TRRAP	8295	broad.mit.edu	37	7	98573796	98573796	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr7:98573796G>A	uc003upp.2	+	53	8052	c.7843G>A	c.(7843-7845)GTT>ATT	p.V2615I	TRRAP_uc011kis.1_Missense_Mutation_p.V2597I|TRRAP_uc003upr.2_Missense_Mutation_p.V2314I	NM_003496	NP_003487	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated	2615					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)			CAGCGCTTTCGTTCAGCTGTG	0.572												
AP4M1	9179	broad.mit.edu	37	7	99700543	99700543	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr7:99700543G>A	uc003utb.3	+	4	519	c.311G>A	c.(310-312)CGC>CAC	p.R104H	MCM7_uc003usv.1_5'Flank|MCM7_uc003usw.1_5'Flank|MCM7_uc003usx.1_5'Flank|AP4M1_uc011kjg.1_Missense_Mutation_p.R104H|AP4M1_uc010lgl.1_Missense_Mutation_p.R104H|AP4M1_uc003utc.3_Missense_Mutation_p.R111H|AP4M1_uc010lgm.2_Intron|AP4M1_uc003utd.2_Missense_Mutation_p.R104H|AP4M1_uc011kjh.1_Missense_Mutation_p.R56H|AP4M1_uc003ute.3_5'UTR|AP4M1_uc003utf.3_5'UTR	NM_004722	NP_004713	O00189	AP4M1_HUMAN	adaptor-related protein complex 4, mu 1 subunit	104					intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|coated pit|Golgi trans cisterna	transporter activity				0	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					ACCATCTCCCGCAATGTGGCT	0.547												
AGFG2	3268	broad.mit.edu	37	7	100160278	100160278	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr7:100160278G>A	uc003uvf.2	+	8	1196	c.1060G>A	c.(1060-1062)GGC>AGC	p.G354S	AGFG2_uc010lgy.2_Silent_p.A215A	NM_006076	NP_006067	O95081	AGFG2_HUMAN	ArfGAP with FG repeats 2	354					regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding			central_nervous_system(1)	1						CGGCGGCGGCGGCAGCAGCAC	0.657												
PCOLCE	5118	broad.mit.edu	37	7	100204175	100204175	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr7:100204175C>T	uc003uvo.2	+	6	1060	c.862C>T	c.(862-864)CGG>TGG	p.R288W	uc011kjy.1_5'Flank|PCOLCE_uc010lhb.1_RNA|PCOLCE_uc003uvp.1_RNA	NM_002593	NP_002584	Q15113	PCOC1_HUMAN	procollagen C-endopeptidase enhancer	288		Cleavage.|Cleavage.			multicellular organismal development	extracellular space	collagen binding|heparin binding|peptidase activator activity				0	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					CGGCCCCAAACGGGGAACTGA	0.602												
SLC12A9	56996	broad.mit.edu	37	7	100459447	100459447	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr7:100459447G>A	uc003uwp.2	+	12	1767	c.1625G>A	c.(1624-1626)CGG>CAG	p.R542Q	SLC12A9_uc003uwq.2_Missense_Mutation_p.R453Q|SLC12A9_uc011kki.1_Missense_Mutation_p.R73Q|SLC12A9_uc003uwr.2_Missense_Mutation_p.R278Q|SLC12A9_uc003uws.2_Missense_Mutation_p.R73Q|SLC12A9_uc003uwt.2_Missense_Mutation_p.R278Q|SLC12A9_uc003uwv.2_Missense_Mutation_p.R73Q	NM_020246	NP_064631	Q9BXP2	S12A9_HUMAN	solute carrier family 12 (potassium/chloride	542	Extracellular (Potential).					integral to membrane|plasma membrane	cation:chloride symporter activity				0	Lung NSC(181;0.041)|all_lung(186;0.0581)					GGGAACCCCCGGGGCGCCCTG	0.657												
MUC17	140453	broad.mit.edu	37	7	100685976	100685976	+	Missense_Mutation	SNP	T	T	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr7:100685976T>A	uc003uxp.1	+	3	11332	c.11279T>A	c.(11278-11280)GTC>GAC	p.V3760D	MUC17_uc010lho.1_RNA	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	mucin 17 precursor	3760	Extracellular (Potential).|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			ovary(14)|skin(8)|breast(3)|lung(2)	27	Lung NSC(181;0.136)|all_lung(186;0.182)					ACTATTCTTGTCAGTACCACA	0.478												
RABL5	64792	broad.mit.edu	37	7	100958511	100958511	+	Silent	SNP	A	A	G			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr7:100958511A>G	uc003uyl.2	-	5	565	c.462T>C	c.(460-462)CCT>CCC	p.P154P	RABL5_uc011kkk.1_Silent_p.P77P|RABL5_uc011kkl.1_Silent_p.P77P|RABL5_uc003uym.2_Silent_p.P124P|RABL5_uc010lhw.2_RNA	NM_022777	NP_073614	Q9H7X7	RABL5_HUMAN	RAB, member RAS oncogene family-like 5 isoform	154							GTP binding				0	Lung NSC(181;0.215)					GGATCTCCTCAGGGTCATCTT	0.438											OREG0018221	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
ORC5L	5001	broad.mit.edu	37	7	103835622	103835622	+	Silent	SNP	C	C	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr7:103835622C>T	uc003vcb.2	-	5	633	c.522G>A	c.(520-522)CCG>CCA	p.P174P	ORC5L_uc011klp.1_Silent_p.P42P|ORC5L_uc003vcc.2_Silent_p.P174P|ORC5L_uc003vcd.2_Silent_p.P174P	NM_002553	NP_002544	O43913	ORC5_HUMAN	origin recognition complex subunit 5 isoform 1	174					cell cycle checkpoint|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	cytoplasm|nuclear origin of replication recognition complex|nucleoplasm	ATP binding|DNA replication origin binding|identical protein binding				0						ATAAGACAAACGGCTCAAAGC	0.333												
DOCK4	9732	broad.mit.edu	37	7	111517184	111517184	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr7:111517184T>C	uc003vfx.2	-	17	1915	c.1646A>G	c.(1645-1647)AAG>AGG	p.K549R	DOCK4_uc003vfw.2_5'UTR|DOCK4_uc003vfy.2_Missense_Mutation_p.K549R|DOCK4_uc003vga.1_Missense_Mutation_p.K154R	NM_014705	NP_055520	Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	549	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)				GAAAATGCCCTTGGAAAAGGG	0.373												
MDFIC	29969	broad.mit.edu	37	7	114563029	114563029	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr7:114563029C>T	uc003vhf.2	+	2	531	c.268C>T	c.(268-270)CGC>TGC	p.R90C	MDFIC_uc003vhg.2_RNA	NM_199072	NP_951038	Q9P1T7	MDFIC_HUMAN	MyoD family inhibitor domain containing protein	Error:Variant_position_missing_in_Q9P1T7_after_alignment					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						TTCCTCCGTGCGCCCTGCCGG	0.637												
KCND2	3751	broad.mit.edu	37	7	119915437	119915437	+	Missense_Mutation	SNP	G	G	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr7:119915437G>T	uc003vjj.1	+	1	1716	c.751G>T	c.(751-753)GCG>TCG	p.A251S		NM_012281	NP_036413	Q9NZV8	KCND2_HUMAN	potassium voltage-gated channel, Shal-related	251	Cytoplasmic (Potential).				regulation of action potential|synaptic transmission	cell surface|dendritic spine	metal ion binding			ovary(2)|central_nervous_system(2)|skin(1)	5	all_neural(327;0.117)					CCTGGCTGCAGCGCCTAGTCG	0.527												
PTPRZ1	5803	broad.mit.edu	37	7	121637988	121637988	+	Missense_Mutation	SNP	G	G	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr7:121637988G>T	uc003vjy.2	+	10	1563	c.1168G>T	c.(1168-1170)GCC>TCC	p.A390S	PTPRZ1_uc003vjz.2_Missense_Mutation_p.A390S	NM_002851	NP_002842	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type,	390	Extracellular (Potential).|Fibronectin type-III.				central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity			ovary(3)|large_intestine(2)|lung(2)|central_nervous_system(1)|kidney(1)	9						TCAGATAGTAGCCATATGCAC	0.348												
SLC13A1	6561	broad.mit.edu	37	7	122809297	122809297	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr7:122809297G>A	uc003vkm.2	-	4	483	c.458C>T	c.(457-459)GCT>GTT	p.A153V	SLC13A1_uc010lks.2_5'UTR	NM_022444	NP_071889	Q9BZW2	S13A1_HUMAN	solute carrier family 13 (sodium/sulfate	153						integral to membrane|plasma membrane	sodium:sulfate symporter activity	p.A153V(1)		ovary(2)	2					Succinic acid(DB00139)	CTGCACTACAGCCTCCGCAAT	0.527												
GRM8	2918	broad.mit.edu	37	7	126173175	126173175	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr7:126173175C>T	uc003vlr.2	-	8	2572	c.2261G>A	c.(2260-2262)GGA>GAA	p.G754E	GRM8_uc003vls.2_RNA|GRM8_uc011kof.1_RNA|GRM8_uc003vlt.2_Missense_Mutation_p.G754E|GRM8_uc010lkz.1_RNA	NM_000845	NP_000836	O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8 isoform a	754	Helical; Name=5; (Potential).				negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane				lung(15)|ovary(5)|pancreas(1)|breast(1)|skin(1)	23		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	GATACTGTATCCAAGTGAACA	0.438										HNSCC(24;0.065)		
IRF5	3663	broad.mit.edu	37	7	128582176	128582176	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr7:128582176G>A	uc003vog.2	+	2	162	c.41G>A	c.(40-42)CGC>CAC	p.R14H	IRF5_uc010llr.1_Missense_Mutation_p.R14H|IRF5_uc011kot.1_Missense_Mutation_p.R14H|IRF5_uc011kou.1_Missense_Mutation_p.R14H|IRF5_uc010lls.1_Missense_Mutation_p.R14H|IRF5_uc003voh.2_Missense_Mutation_p.R14H|IRF5_uc010llt.2_Missense_Mutation_p.R14H|IRF5_uc003voi.2_Missense_Mutation_p.R14H|IRF5_uc010llu.1_Missense_Mutation_p.R14H|IRF5_uc003vok.2_Missense_Mutation_p.R14H|IRF5_uc003voj.3_Missense_Mutation_p.R14H|IRF5_uc010llv.1_Missense_Mutation_p.R14H|IRF5_uc010llw.1_Missense_Mutation_p.R14H	NM_002200	NP_002191	Q13568	IRF5_HUMAN	interferon regulatory factor 5 isoform a	14	IRF tryptophan pentad repeat.				interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity				0						CCACCCCGCCGCGTGCGGCTG	0.627												
SMO	6608	broad.mit.edu	37	7	128849174	128849174	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr7:128849174A>G	uc003vor.2	+	8	1682	c.1402A>G	c.(1402-1404)AGC>GGC	p.S468G	SMO_uc003vos.2_Missense_Mutation_p.S143G	NM_005631	NP_005622	Q99835	SMO_HUMAN	smoothened precursor	468	Helical; Name=6; (Potential).				adenohypophysis development|axon extension involved in axon guidance|canonical Wnt receptor signaling pathway|cardioblast differentiation|central nervous system neuron differentiation|cerebellar cortex morphogenesis|ciliary receptor clustering involved in smoothened signaling pathway|determination of left/right symmetry|dorsal/ventral neural tube patterning|embryonic camera-type eye development|embryonic digestive tract morphogenesis|embryonic neurocranium morphogenesis|embryonic viscerocranium morphogenesis|exocrine pancreas development|facial nerve development|floor plate formation|gonad development|heart morphogenesis|muscle cell fate commitment|negative regulation of apoptosis|neural crest cell migration|neuron fate commitment|neuron projection regeneration|odontogenesis of dentine-containing tooth|osteoblast differentiation|otolith morphogenesis|positive regulation of epithelial cell proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of neuroblast proliferation|positive regulation of smoothened signaling pathway|semicircular canal morphogenesis|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation|smoothened signaling pathway involved in ventral spinal cord patterning|spermatogenesis|vasculogenesis	cilium|cytoplasm|integral to membrane|neuronal cell body|plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			skin(19)|large_intestine(10)|central_nervous_system(3)|upper_aerodigestive_tract(2)|biliary_tract(1)|lung(1)|liver(1)	37						CATTACCTTCAGCTGCCACTT	0.592			Mis		skin basal cell 							
UBE2H	7328	broad.mit.edu	37	7	129479104	129479104	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr7:129479104C>T	uc003vpf.1	-	6	764	c.370G>A	c.(370-372)GGT>AGT	p.G124S	UBE2H_uc003vpg.1_Missense_Mutation_p.G93S	NM_003344	NP_003335	P62256	UBE2H_HUMAN	ubiquitin-conjugating enzyme E2H isoform 1	124					protein K11-linked ubiquitination|protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process		ATP binding|ubiquitin-protein ligase activity			skin(1)	1	Melanoma(18;0.0435)					GCAGCGTCACCATTGAGAGGA	0.413												
TRIM24	8805	broad.mit.edu	37	7	138189060	138189060	+	Silent	SNP	C	C	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr7:138189060C>T	uc003vuc.2	+	2	605	c.390C>T	c.(388-390)TGC>TGT	p.C130C	TRIM24_uc003vub.2_Silent_p.C130C	NM_015905	NP_056989	O15164	TIF1A_HUMAN	transcriptional intermediary factor 1 alpha	130					cellular response to estrogen stimulus|protein catabolic process|regulation of apoptosis|regulation of protein stability|transcription from RNA polymerase II promoter	cytoplasm	chromatin binding|estrogen response element binding|histone acetyl-lysine binding|p53 binding|transcription coactivator activity|ubiquitin-protein ligase activity|zinc ion binding			central_nervous_system(3)|ovary(2)|stomach(1)|breast(1)|skin(1)	8						GCCCAGTTTGCAGCCAAGAAT	0.368												
UBN2	254048	broad.mit.edu	37	7	138944044	138944044	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr7:138944044T>C	uc011kqr.1	+	5	833	c.833T>C	c.(832-834)ATG>ACG	p.M278T	UBN2_uc003vuv.2_Missense_Mutation_p.M1T	NM_173569	NP_775840	Q6ZU65	UBN2_HUMAN	ubinuclein 2	278	Lys-rich.									ovary(1)|skin(1)	2						GATATTGAGATGAAGAAGCGG	0.368												
TBXAS1	6916	broad.mit.edu	37	7	139706977	139706977	+	Silent	SNP	T	T	G			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr7:139706977T>G	uc011kqv.1	+	11	1526	c.1362T>G	c.(1360-1362)GCT>GCG	p.A454A	TBXAS1_uc003vvh.2_Silent_p.A408A|TBXAS1_uc010lne.2_Silent_p.A340A|TBXAS1_uc011kqu.1_Silent_p.A359A|TBXAS1_uc003vvi.2_Silent_p.A408A|TBXAS1_uc003vvj.2_Silent_p.A408A|TBXAS1_uc011kqw.1_Silent_p.A388A	NM_001130966	NP_001124438	P24557	THAS_HUMAN	thromboxane A synthase 1, platelet isoform	407	Cytoplasmic (Potential).				hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|thromboxane-A synthase activity			ovary(2)|breast(1)	3	Melanoma(164;0.0142)					ACCCGCCAGCTTTCAGGTGTG	0.637												
JHDM1D	80853	broad.mit.edu	37	7	139791763	139791763	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr7:139791763A>G	uc003vvm.2	-	19	2576	c.2572T>C	c.(2572-2574)TAT>CAT	p.Y858H	JHDM1D_uc010lng.2_RNA	NM_030647	NP_085150	Q6ZMT4	KDM7_HUMAN	jumonji C domain containing histone demethylase	858					midbrain development|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			ovary(1)	1	Melanoma(164;0.0142)					TTCTGCATATACTTTCCATTC	0.473												
TRPV6	55503	broad.mit.edu	37	7	142571315	142571315	+	Silent	SNP	G	G	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr7:142571315G>T	uc003wbx.1	-	13	1890	c.1674C>A	c.(1672-1674)ACC>ACA	p.T558T	TRPV6_uc003wbw.1_Silent_p.T344T|TRPV6_uc010lou.1_Silent_p.T429T	NM_018646	NP_061116	Q9H1D0	TRPV6_HUMAN	transient receptor potential cation channel,	558	Helical; (Potential).				regulation of calcium ion-dependent exocytosis	integral to plasma membrane	calcium channel activity|calmodulin binding			ovary(2)	2	Melanoma(164;0.059)					AGGCAGCATAGGTGATGCTGT	0.567												
KEL	3792	broad.mit.edu	37	7	142643391	142643391	+	Missense_Mutation	SNP	C	C	T	rs61729041		TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr7:142643391C>T	uc003wcb.2	-	11	1427	c.1217G>A	c.(1216-1218)CGA>CAA	p.R406Q		NM_000420	NP_000411	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase	406	Extracellular (Potential).		R -> Q (in KEL26 antigen).		proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			ovary(3)|central_nervous_system(1)	4	Melanoma(164;0.059)					CTTCATCCATCGTGGGCGGGC	0.562												
EPHA1	2041	broad.mit.edu	37	7	143095949	143095949	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr7:143095949G>A	uc003wcz.2	-	6	1168	c.1081C>T	c.(1081-1083)CGC>TGC	p.R361C		NM_005232	NP_005223	P21709	EPHA1_HUMAN	ephrin receptor EphA1 precursor	361	Extracellular (Potential).|Fibronectin type-III 1.					integral to plasma membrane	ATP binding|ephrin receptor activity			ovary(3)|lung(1)|breast(1)	5	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)				ACATCCTGGCGTCCCCCCGTA	0.662												
CNTNAP2	26047	broad.mit.edu	37	7	146818164	146818164	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr7:146818164G>A	uc003weu.1	+	6	1364	c.848G>A	c.(847-849)CGC>CAC	p.R283H		NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	cell recognition molecule Caspr2 precursor	283	Laminin G-like 1.|Extracellular (Potential).		R -> C.		behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			ovary(9)|central_nervous_system(1)|pancreas(1)	11	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			GTCATTGAGCGCCAGGGGCGG	0.532										HNSCC(39;0.1)		
EZH2	2146	broad.mit.edu	37	7	148507454	148507454	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr7:148507454A>G	uc003wfd.1	-	17	2151	c.1985T>C	c.(1984-1986)ATG>ACG	p.M662T	EZH2_uc011kug.1_Missense_Mutation_p.M611T|EZH2_uc003wfb.1_Missense_Mutation_p.M667T|EZH2_uc003wfc.1_Missense_Mutation_p.M623T|EZH2_uc011kuh.1_Missense_Mutation_p.M653T	NM_004456	NP_004447	Q15910	EZH2_HUMAN	enhancer of zeste 2 isoform a	662	SET.				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	p.V662fs*13(1)		haematopoietic_and_lymphoid_tissue(180)|skin(2)|large_intestine(1)	183	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00239)			AAAGCTGCACATGTATTTATC	0.418			Mis		DLBCL							
ZNF746	155061	broad.mit.edu	37	7	149174108	149174108	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr7:149174108G>A	uc003wfw.2	-	6	1014	c.743C>T	c.(742-744)CCG>CTG	p.P248L	ZNF746_uc010lpi.2_Missense_Mutation_p.P248L	NM_152557	NP_689770	Q6NUN9	ZN746_HUMAN	zinc finger protein 746 isoform 2	248					negative regulation of transcription, DNA-dependent|neuron death|regulation of cell death|transcription, DNA-dependent	cytoplasm|nucleus	transcription regulatory region DNA binding|ubiquitin protein ligase binding|zinc ion binding			ovary(2)|breast(1)	3	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			GGAGGTGGGCGGGATGGTGGT	0.617												
ZNF746	155061	broad.mit.edu	37	7	149191572	149191572	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr7:149191572G>A	uc003wfw.2	-	2	318	c.47C>T	c.(46-48)GCC>GTC	p.A16V	ZNF746_uc010lpi.2_Missense_Mutation_p.A16V	NM_152557	NP_689770	Q6NUN9	ZN746_HUMAN	zinc finger protein 746 isoform 2	16	Potential.				negative regulation of transcription, DNA-dependent|neuron death|regulation of cell death|transcription, DNA-dependent	cytoplasm|nucleus	transcription regulatory region DNA binding|ubiquitin protein ligase binding|zinc ion binding			ovary(2)|breast(1)	3	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			CTGAATCGTGGCTGCCATCGT	0.537												
ZNF862	643641	broad.mit.edu	37	7	149547315	149547315	+	Silent	SNP	C	C	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr7:149547315C>T	uc010lpn.2	+	5	1197	c.1005C>T	c.(1003-1005)TTC>TTT	p.F335F	ZNF862_uc003wgm.2_RNA	NM_001099220	NP_001092690	O60290	ZN862_HUMAN	zinc finger protein 862	335	KRAB 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|nucleic acid binding|protein dimerization activity			skin(1)	1						CGGTGGTGTTCGAGGATGTGG	0.592												
ZNF862	643641	broad.mit.edu	37	7	149557773	149557773	+	Silent	SNP	G	G	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr7:149557773G>A	uc010lpn.2	+	7	1716	c.1524G>A	c.(1522-1524)ACG>ACA	p.T508T	ZNF862_uc003wgm.2_RNA	NM_001099220	NP_001092690	O60290	ZN862_HUMAN	zinc finger protein 862	508	TTF-type 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|nucleic acid binding|protein dimerization activity			skin(1)	1						GAGGTTACACGGGGCCTTTTA	0.453												
LRRC61	65999	broad.mit.edu	37	7	150034580	150034580	+	Silent	SNP	C	C	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr7:150034580C>T	uc003wgv.2	+	3	1304	c.630C>T	c.(628-630)AGC>AGT	p.S210S	LRRC61_uc003wgx.2_Silent_p.S210S|LRRC61_uc003wgw.2_Silent_p.S210S|LRRC61_uc003wgz.3_Silent_p.S210S	NM_023942	NP_076431	Q9BV99	LRC61_HUMAN	leucine rich repeat containing 61	210											0			OV - Ovarian serous cystadenocarcinoma(82;0.011)			CCTGGCCCAGCCGGAGCAGCT	0.701												
KCNH2	3757	broad.mit.edu	37	7	150656686	150656686	+	Missense_Mutation	SNP	C	C	G			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr7:150656686C>G	uc003wic.2	-	3	459	c.446G>C	c.(445-447)GGC>GCC	p.G149A	KCNH2_uc011kux.1_Missense_Mutation_p.G53A|KCNH2_uc003wie.2_Missense_Mutation_p.G149A	NM_000238	NP_000229	Q12809	KCNH2_HUMAN	voltage-gated potassium channel, subfamily H,	149	Cytoplasmic (Potential).				blood circulation|muscle contraction|regulation of heart contraction|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|two-component sensor activity			skin(3)|ovary(1)	4	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Cisapride(DB00604)|Dofetilide(DB00204)|Halofantrine(DB01218)|Ibutilide(DB00308)|Pimozide(DB01100)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terfenadine(DB00342)|Verapamil(DB00661)	GGTGGGGGGGCCCCGGTGGTT	0.582												
MLL3	58508	broad.mit.edu	37	7	151860314	151860314	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr7:151860314G>A	uc003wla.2	-	43	10567	c.10348C>T	c.(10348-10350)CAG>TAG	p.Q3450*	MLL3_uc003wkz.2_Nonsense_Mutation_p.Q2511*|MLL3_uc003wky.2_Nonsense_Mutation_p.Q959*	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 3	3450	Gln-rich.				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)		AAGGGAATCTGGGACACAGAT	0.483			N		medulloblastoma							
ARHGEF10	9639	broad.mit.edu	37	8	1873491	1873491	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr8:1873491G>A	uc003wpr.2	+	22	2709	c.2531G>A	c.(2530-2532)GGG>GAG	p.G844E	ARHGEF10_uc003wpq.1_Missense_Mutation_p.G868E|ARHGEF10_uc003wps.2_Missense_Mutation_p.G806E|ARHGEF10_uc003wpv.2_Missense_Mutation_p.G576E|ARHGEF10_uc010lre.2_Missense_Mutation_p.G524E	NM_014629	NP_055444	O15013	ARHGA_HUMAN	Rho guanine nucleotide exchange factor 10	869					centrosome duplication|myelination in peripheral nervous system|positive regulation of GTP catabolic process|positive regulation of stress fiber assembly|regulation of Rho protein signal transduction|spindle assembly involved in mitosis	centrosome|cytosol|soluble fraction	kinesin binding|Rho guanyl-nucleotide exchange factor activity			large_intestine(1)	1		Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834)		COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718)		GAAGACGATGGGAATCACATT	0.507												
CSMD1	64478	broad.mit.edu	37	8	3165998	3165998	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr8:3165998G>A	uc011kwk.1	-	24	4052	c.3662C>T	c.(3661-3663)CCG>CTG	p.P1221L	CSMD1_uc011kwj.1_Missense_Mutation_p.P613L|CSMD1_uc003wqe.2_Missense_Mutation_p.P377L	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1 precursor	1221	Extracellular (Potential).|Sushi 7.					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)		AGGGATGCCCGGATCCTCACA	0.483												
CSMD1	64478	broad.mit.edu	37	8	3855550	3855550	+	Silent	SNP	G	G	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr8:3855550G>A	uc011kwk.1	-	5	1083	c.693C>T	c.(691-693)AAC>AAT	p.N231N		NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1 precursor	231	Extracellular (Potential).|CUB 2.					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)		TGCAGTCCGCGTTGTTCTCGT	0.567												
XKR5	389610	broad.mit.edu	37	8	6690370	6690370	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr8:6690370C>T	uc003wqp.2	-	2	133	c.111G>A	c.(109-111)TGG>TGA	p.W37*	XKR5_uc003wqq.2_5'UTR|XKR5_uc003wqr.1_RNA	NM_207411	NP_997294	Q6UX68	XKR5_HUMAN	XK-related protein 5a	37	Helical; (Potential).					integral to membrane					0			STAD - Stomach adenocarcinoma(24;0.0984)	READ - Rectum adenocarcinoma(644;0.137)|COAD - Colon adenocarcinoma(149;0.166)		CAAGGGCCAGCCACCCCCACA	0.602												
PINX1	54984	broad.mit.edu	37	8	10623273	10623273	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr8:10623273G>A	uc003wth.2	-	7	658	c.625C>T	c.(625-627)CGT>TGT	p.R209C	SOX7_uc011kwz.1_Intron|PINX1_uc003wti.2_3'UTR	NM_017884	NP_060354	Q96BK5	PINX1_HUMAN	PIN2-interacting protein 1	209					mitotic metaphase plate congression|negative regulation of cell proliferation	chromosome, telomeric region|condensed chromosome kinetochore|mitochondrion|nuclear chromosome|nucleolus|spindle	protein binding|telomerase inhibitor activity|telomeric RNA binding			lung(1)|kidney(1)|skin(1)	3				Kidney(29;0.0595)|COAD - Colon adenocarcinoma(149;0.105)|KIRC - Kidney renal clear cell carcinoma(542;0.201)		CCCCTTTTACGTTCCACCTGC	0.522												
DLC1	10395	broad.mit.edu	37	8	13357188	13357188	+	Silent	SNP	T	T	C			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr8:13357188T>C	uc003wwm.2	-	2	837	c.393A>G	c.(391-393)CAA>CAG	p.Q131Q	DLC1_uc003wwn.2_Silent_p.Q131Q|DLC1_uc011kxy.1_Silent_p.Q131Q	NM_182643	NP_872584	Q96QB1	RHG07_HUMAN	deleted in liver cancer 1 isoform 1	131					actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding			ovary(3)|pancreas(2)|lung(1)|kidney(1)	7						TTTTCTGCCCTTGGGTATTTA	0.423												
MSR1	4481	broad.mit.edu	37	8	16021619	16021619	+	Missense_Mutation	SNP	C	C	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr8:16021619C>A	uc003wwz.2	-	5	970	c.772G>T	c.(772-774)GAT>TAT	p.D258Y	MSR1_uc010lsu.2_Missense_Mutation_p.D276Y|MSR1_uc003wxa.2_Missense_Mutation_p.D258Y|MSR1_uc003wxb.2_Missense_Mutation_p.D258Y|MSR1_uc011kxz.1_Missense_Mutation_p.D32Y	NM_138715	NP_619729	P21757	MSRE_HUMAN	macrophage scavenger receptor 1 isoform type 1	258	Extracellular (Potential).				cholesterol transport|plasma lipoprotein particle clearance|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis	collagen|integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|protein binding|scavenger receptor activity			ovary(1)	1				Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164)		TGTTCCCAATCTTTCAGTCTG	0.303												
ZDHHC2	51201	broad.mit.edu	37	8	17055134	17055134	+	Silent	SNP	C	C	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr8:17055134C>A	uc003wxe.2	+	5	814	c.417C>A	c.(415-417)CGC>CGA	p.R139R		NM_016353	NP_057437	Q9UIJ5	ZDHC2_HUMAN	zinc finger, DHHC-type containing 2	139	DHHC-type.					integral to membrane	acyltransferase activity|zinc ion binding				0				Colorectal(111;0.0697)|COAD - Colon adenocarcinoma(73;0.244)		AACCAGATCGCTGCCATCACT	0.378												
PCM1	5108	broad.mit.edu	37	8	17867107	17867107	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr8:17867107C>T	uc003wyi.3	+	31	5436	c.5014C>T	c.(5014-5016)CTT>TTT	p.L1672F	PCM1_uc011kyh.1_Missense_Mutation_p.L1664F|PCM1_uc003wyj.3_Missense_Mutation_p.L1618F|PCM1_uc011kyi.1_Missense_Mutation_p.L471F|PCM1_uc011kyj.1_Missense_Mutation_p.L428F|PCM1_uc003wyk.3_Missense_Mutation_p.L354F|PCM1_uc011kyk.1_Missense_Mutation_p.L288F	NM_006197	NP_006188	Q15154	PCM1_HUMAN	pericentriolar material 1	1672	Interaction with HAP1.				centrosome organization|cilium assembly|G2/M transition of mitotic cell cycle|interkinetic nuclear migration|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome	centriolar satellite|cytosol|nuclear membrane|pericentriolar material	identical protein binding		PCM1/JAK2(30)	haematopoietic_and_lymphoid_tissue(30)|breast(4)|ovary(2)	36				Colorectal(111;0.0789)		TGGAGAAGATCTTCTTGTAGA	0.308			T	RET|JAK2	papillary thyroid|CML|MPD							
SH2D4A	63898	broad.mit.edu	37	8	19250969	19250969	+	Missense_Mutation	SNP	G	G	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr8:19250969G>T	uc003wzb.2	+	9	1525	c.1189G>T	c.(1189-1191)GAT>TAT	p.D397Y	SH2D4A_uc011kym.1_Missense_Mutation_p.D352Y|SH2D4A_uc003wzc.2_Missense_Mutation_p.D397Y	NM_022071	NP_071354	Q9H788	SH24A_HUMAN	SH2 domain containing 4A	397	SH2.					cytoplasm|nucleus	protein binding				0				Colorectal(111;0.0732)		TTTCCTCATCGATGCCTCTGC	0.527												
LZTS1	11178	broad.mit.edu	37	8	20107710	20107710	+	Silent	SNP	G	G	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr8:20107710G>A	uc003wzr.2	-	3	1425	c.1314C>T	c.(1312-1314)GGC>GGT	p.G438G	LZTS1_uc010ltg.1_Silent_p.G438G	NM_021020	NP_066300	Q9Y250	LZTS1_HUMAN	leucine zipper, putative tumor suppressor 1	438					cell cycle|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	cell junction|dendritic spine|Golgi apparatus|nucleolus|nucleoplasm|postsynaptic density|postsynaptic membrane	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1				Colorectal(74;0.0511)|COAD - Colon adenocarcinoma(73;0.207)		TGCGCAGGGCGCCCTCCAGGT	0.647												
FAM160B2	64760	broad.mit.edu	37	8	21959298	21959298	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr8:21959298G>A	uc011kyx.1	+	14	1838	c.1787G>A	c.(1786-1788)CGA>CAA	p.R596Q	FAM160B2_uc011kyy.1_RNA	NM_022749	NP_073586	Q86V87	F16B2_HUMAN	retinoic acid induced 16	596											0						GAGCCCGAGCGACCTTTCTTC	0.632												
LGI3	203190	broad.mit.edu	37	8	22005798	22005798	+	Silent	SNP	G	G	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr8:22005798G>A	uc003xav.2	-	8	1811	c.1522C>T	c.(1522-1524)CTG>TTG	p.L508L	LGI3_uc010ltu.2_Silent_p.L484L	NM_139278	NP_644807	Q8N145	LGI3_HUMAN	leucine-rich repeat LGI family, member 3	508	EAR 7.				exocytosis	cell junction|extracellular region|synaptic vesicle|synaptosome				ovary(1)	1				Colorectal(74;0.00189)|COAD - Colon adenocarcinoma(73;0.0612)|READ - Rectum adenocarcinoma(644;0.0999)		TGCACAGCCAGCTCCTGGAAC	0.607												
C8orf58	541565	broad.mit.edu	37	8	22459291	22459291	+	Missense_Mutation	SNP	C	C	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr8:22459291C>A	uc003xce.2	+	3	695	c.583C>A	c.(583-585)CTG>ATG	p.L195M	C8orf58_uc011kzl.1_Missense_Mutation_p.L195M|C8orf58_uc003xcf.2_Missense_Mutation_p.L195M|KIAA1967_uc003xch.2_5'Flank	NM_001013842	NP_001013864	Q8NAV2	CH058_HUMAN	hypothetical protein LOC541565	195										skin(1)	1		Prostate(55;0.0421)|Breast(100;0.102)|all_epithelial(46;0.142)		BRCA - Breast invasive adenocarcinoma(99;0.00563)|Colorectal(74;0.0145)|COAD - Colon adenocarcinoma(73;0.0608)		TCTGGAACACCTGTGCCTGGT	0.652												
KIAA1967	57805	broad.mit.edu	37	8	22464797	22464797	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr8:22464797T>C	uc003xch.2	+	6	583	c.446T>C	c.(445-447)ATC>ACC	p.I149T	KIAA1967_uc003xci.2_Missense_Mutation_p.I149T|KIAA1967_uc003xcj.1_5'UTR	NM_199205	NP_954675	Q8N163	K1967_HUMAN	p30 DBC protein	149					apoptosis|positive regulation of apoptosis	mitochondrial matrix|nucleus	enzyme binding|enzyme inhibitor activity			ovary(1)|central_nervous_system(1)|skin(1)	3		Prostate(55;0.0421)|Breast(100;0.102)|all_epithelial(46;0.142)		BRCA - Breast invasive adenocarcinoma(99;0.00593)|Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064)		CCTCAGTTGATCTTCCAGCCT	0.557												
KIAA1967	57805	broad.mit.edu	37	8	22476226	22476226	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr8:22476226G>A	uc003xch.2	+	18	2454	c.2317G>A	c.(2317-2319)GAG>AAG	p.E773K	KIAA1967_uc003xci.2_Missense_Mutation_p.E773K|KIAA1967_uc003xcj.1_Missense_Mutation_p.E442K	NM_199205	NP_954675	Q8N163	K1967_HUMAN	p30 DBC protein	773					apoptosis|positive regulation of apoptosis	mitochondrial matrix|nucleus	enzyme binding|enzyme inhibitor activity			ovary(1)|central_nervous_system(1)|skin(1)	3		Prostate(55;0.0421)|Breast(100;0.102)|all_epithelial(46;0.142)		BRCA - Breast invasive adenocarcinoma(99;0.00593)|Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064)		TGGCCTTCCCGAGGAGGTGCT	0.627												
NEFL	4747	broad.mit.edu	37	8	24813259	24813259	+	Silent	SNP	C	C	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr8:24813259C>T	uc003xee.2	-	1	873	c.771G>A	c.(769-771)GCG>GCA	p.A257A		NM_006158	NP_006149	P07196	NFL_HUMAN	neurofilament, light polypeptide 68kDa	257	Rod.|Coil 2A.				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)		TGTCCTTGAGCGCGGCGGAAA	0.607												
KCTD9	54793	broad.mit.edu	37	8	25290099	25290099	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr8:25290099A>G	uc003xeo.2	-	11	1132	c.974T>C	c.(973-975)CTG>CCG	p.L325P	PPP2R2A_uc003xek.2_Intron|KCTD9_uc011lad.1_RNA	NM_017634	NP_060104	Q7L273	KCTD9_HUMAN	potassium channel tetramerisation domain	325	Pentapeptide repeat 2.					voltage-gated potassium channel complex	voltage-gated potassium channel activity				0		all_cancers(63;0.0164)|Ovarian(32;0.000878)|all_epithelial(46;0.00542)|Breast(100;0.0164)|Hepatocellular(4;0.114)|Prostate(55;0.191)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0219)|Epithelial(17;2.39e-12)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0438)		AGCCACTCTCAGGTTAATTCC	0.393												
DPYSL2	1808	broad.mit.edu	37	8	26510813	26510813	+	Silent	SNP	G	G	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr8:26510813G>A	uc003xfb.1	+	13	1877	c.1527G>A	c.(1525-1527)ACG>ACA	p.T509T	DPYSL2_uc003xfa.2_Silent_p.T614T|DPYSL2_uc010luk.1_RNA|DPYSL2_uc011lah.1_Silent_p.T473T	NM_001386	NP_001377	Q16555	DPYL2_HUMAN	dihydropyrimidinase-like 2	509				T->A: Greatly diminishes binding to 3F4 antibody.	axon guidance|pyrimidine base catabolic process|signal transduction	cytosol	dihydropyrimidinase activity|protein binding			large_intestine(1)	1		all_cancers(63;0.121)|Ovarian(32;2.68e-05)|all_epithelial(46;0.116)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;3.33e-10)|Colorectal(74;0.183)		TGTCTGTGACGCCCAAGACAG	0.602												
ZNF395	55893	broad.mit.edu	37	8	28206306	28206306	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr8:28206306C>T	uc003xgq.2	-	10	1560	c.1472G>A	c.(1471-1473)GGC>GAC	p.G491D	ZNF395_uc003xgt.2_Missense_Mutation_p.G491D|ZNF395_uc003xgr.2_Missense_Mutation_p.G491D|ZNF395_uc003xgs.2_Missense_Mutation_p.G491D	NM_018660	NP_061130	Q9H8N7	ZN395_HUMAN	zinc finger protein 395	491					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding				0		Ovarian(32;2.06e-05)		KIRC - Kidney renal clear cell carcinoma(542;0.102)|Kidney(114;0.123)|Colorectal(74;0.142)		GTGCTCGATGCCATACACCTT	0.612												
UNC5D	137970	broad.mit.edu	37	8	35406866	35406866	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr8:35406866C>T	uc003xjr.1	+	2	488	c.160C>T	c.(160-162)CCT>TCT	p.P54S	UNC5D_uc003xjs.1_Missense_Mutation_p.P49S	NM_080872	NP_543148	Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D precursor	54	Extracellular (Potential).|Ig-like.				apoptosis|axon guidance	integral to membrane	receptor activity			upper_aerodigestive_tract(2)|ovary(2)|pancreas(1)|skin(1)	6				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		TGGGACACTGCCTCATTTCAT	0.463												
FGFR1	2260	broad.mit.edu	37	8	38275768	38275768	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr8:38275768G>A	uc003xlp.2	-	11	2350	c.1408C>T	c.(1408-1410)CGC>TGC	p.R470C	FGFR1_uc010lwf.2_RNA|FGFR1_uc011lbo.1_Missense_Mutation_p.R468C|FGFR1_uc011lbp.1_Missense_Mutation_p.R381C|FGFR1_uc011lbq.1_Missense_Mutation_p.R379C|FGFR1_uc010lwk.2_Missense_Mutation_p.R460C	NM_023110	NP_075598	P11362	FGFR1_HUMAN	fibroblast growth factor receptor 1 isoform 1	470	Cytoplasmic (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)	AGCTCCCAGCGAGGGTCTTCG	0.522		1	T	BCR|FOP|ZNF198|CEP1	MPD|NHL		Pfeiffer syndrome|Kallman syndrome					
FGFR1	2260	broad.mit.edu	37	8	38279341	38279341	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr8:38279341T>C	uc003xlp.2	-	8	1997	c.1055A>G	c.(1054-1056)CAC>CGC	p.H352R	FGFR1_uc011lbo.1_Missense_Mutation_p.H350R|FGFR1_uc011lbp.1_Missense_Mutation_p.H263R|FGFR1_uc011lbq.1_Missense_Mutation_p.H261R|FGFR1_uc010lwk.2_Missense_Mutation_p.H344R|FGFR1_uc011lbr.1_RNA|FGFR1_uc011lbs.1_Missense_Mutation_p.H192R|FGFR1_uc011lbt.1_Intron|FGFR1_uc011lbu.1_Missense_Mutation_p.H383R|FGFR1_uc011lbv.1_Missense_Mutation_p.H350R|FGFR1_uc011lbw.1_Missense_Mutation_p.H263R|FGFR1_uc011lbx.1_Missense_Mutation_p.H263R	NM_023110	NP_075598	P11362	FGFR1_HUMAN	fibroblast growth factor receptor 1 isoform 1	352	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)	CCATGCAGAGTGATGGGAGAG	0.542		1	T	BCR|FOP|ZNF198|CEP1	MPD|NHL		Pfeiffer syndrome|Kallman syndrome					
TACC1	6867	broad.mit.edu	37	8	38705511	38705511	+	Missense_Mutation	SNP	G	G	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr8:38705511G>T	uc010lwp.2	+	13	2767	c.2388G>T	c.(2386-2388)GAG>GAT	p.E796D	TACC1_uc003xma.2_Missense_Mutation_p.E234D|TACC1_uc003xlz.2_Missense_Mutation_p.E601D|TACC1_uc003xmc.3_Missense_Mutation_p.E600D|TACC1_uc011lbz.1_Missense_Mutation_p.E783D|TACC1_uc003xmb.3_Missense_Mutation_p.E722D|TACC1_uc003xmf.3_Missense_Mutation_p.E386D|TACC1_uc011lca.1_Missense_Mutation_p.E779D|TACC1_uc011lcb.1_Missense_Mutation_p.E572D|TACC1_uc011lcd.1_RNA|TACC1_uc003xmh.3_Missense_Mutation_p.E613D|TACC1_uc010lwq.2_Missense_Mutation_p.E612D	NM_006283	NP_006274	O75410	TACC1_HUMAN	transforming, acidic coiled-coil containing	796	|Interaction with CH-TOG.				cell cycle|cell division	intermediate filament cytoskeleton|microtubule organizing center|nucleus	protein binding			ovary(1)	1		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.065)	LUSC - Lung squamous cell carcinoma(45;1.7e-09)|COAD - Colon adenocarcinoma(9;0.235)			TCTGTGATGAGCTGATTGCAA	0.403												
IDO2	169355	broad.mit.edu	37	8	39845406	39845406	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr8:39845406A>G	uc010lwy.1	+	7	747	c.505A>G	c.(505-507)ATC>GTC	p.I169V	IDO2_uc003xno.1_RNA|IDO2_uc010lwz.1_Intron|IDO2_uc003xnp.1_5'UTR	NM_194294	NP_919270	Q6ZQW0	I23O2_HUMAN	indoleamine-pyrrole 2,3 dioxygenase-like 1	156					tryptophan catabolic process to kynurenine	cytosol	heme binding|indoleamine 2,3-dioxygenase activity|tryptophan 2,3-dioxygenase activity			ovary(2)	2						GGAGACCATCATCTCATTTCC	0.498												
ANK1	286	broad.mit.edu	37	8	41526075	41526075	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr8:41526075C>T	uc003xok.2	-	39	5188	c.5104G>A	c.(5104-5106)GAC>AAC	p.D1702N	NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoh.2_Missense_Mutation_p.D856N|ANK1_uc003xoi.2_Missense_Mutation_p.D1702N|ANK1_uc003xoj.2_Missense_Mutation_p.D1702N|ANK1_uc003xol.2_Missense_Mutation_p.D1540N|ANK1_uc003xom.2_Missense_Mutation_p.D1743N	NM_020476	NP_065209	P16157	ANK1_HUMAN	ankyrin 1 isoform 1	1702	55 kDa regulatory domain.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			ovary(3)|central_nervous_system(3)|lung(2)|breast(1)	9	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			GCATCCCAGTCCTGCAGTCTG	0.562												
ANK1	286	broad.mit.edu	37	8	41753904	41753904	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr8:41753904C>T	uc003xom.2	-	1	377	c.95G>A	c.(94-96)CGG>CAG	p.R32Q		NM_001142446	NP_001135918	P16157	ANK1_HUMAN	ankyrin 1 isoform 9	Error:Variant_position_missing_in_P16157_after_alignment					axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			ovary(3)|central_nervous_system(3)|lung(2)|breast(1)	9	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			GCGGTTTCTCCGCTTCCTGTT	0.617												
CHRNB3	1142	broad.mit.edu	37	8	42587519	42587519	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr8:42587519T>C	uc003xpi.1	+	5	1197	c.1069T>C	c.(1069-1071)TCA>CCA	p.S357P		NM_000749	NP_000740	Q05901	ACHB3_HUMAN	cholinergic receptor, nicotinic, beta	357	Cytoplasmic (Potential).				synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	nicotinic acetylcholine-activated cation-selective channel activity|receptor activity			ovary(1)	1	all_lung(13;5.7e-12)|Lung NSC(13;1.6e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00026)|Lung NSC(58;0.000992)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	Lung(22;0.0199)|LUSC - Lung squamous cell carcinoma(45;0.0869)			GGATCGCTACTCATCCCCAGA	0.443												
FNTA	2339	broad.mit.edu	37	8	42940306	42940306	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr8:42940306T>C	uc003xps.2	+	9	1069	c.1021T>C	c.(1021-1023)TGT>CGT	p.C341R	FNTA_uc003xpt.2_Missense_Mutation_p.C250R|FNTA_uc003xpu.2_Missense_Mutation_p.C274R|FNTA_uc003xpv.2_RNA	NM_002027	NP_002018	P49354	FNTA_HUMAN	farnesyltransferase, CAAX box, alpha isoform a	341					cellular component disassembly involved in apoptosis|positive regulation of deacetylase activity|positive regulation of tubulin deacetylation|protein farnesylation|protein geranylgeranylation|transforming growth factor beta receptor signaling pathway	cytosol|microtubule associated complex	alpha-tubulin binding|CAAX-protein geranylgeranyltransferase activity|microtubule binding|protein farnesyltransferase activity			ovary(1)	1	Prostate(17;0.0119)|Ovarian(28;0.0172)|Lung SC(25;0.184)	all_cancers(86;0.000223)|all_epithelial(80;1.61e-07)|all_lung(54;0.00021)|Lung NSC(58;0.000778)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.0777)|LUSC - Lung squamous cell carcinoma(45;0.17)			TTTTCAGTTATGTGAAATCCT	0.313												
PRKDC	5591	broad.mit.edu	37	8	48845642	48845642	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr8:48845642C>T	uc003xqi.2	-	16	1771	c.1714G>A	c.(1714-1716)GTT>ATT	p.V572I	PRKDC_uc003xqj.2_Missense_Mutation_p.V572I|PRKDC_uc011ldh.1_Missense_Mutation_p.V572I	NM_006904	NP_008835	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic	572					cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			lung(12)|central_nervous_system(9)|ovary(6)|skin(4)|large_intestine(3)	34		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				ATCTTCAAAACGGATTTTACA	0.294								NHEJ				
PRKDC	5591	broad.mit.edu	37	8	48852128	48852128	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr8:48852128A>G	uc003xqi.2	-	11	1153	c.1096T>C	c.(1096-1098)TAT>CAT	p.Y366H	PRKDC_uc003xqj.2_Missense_Mutation_p.Y366H|PRKDC_uc011ldh.1_Missense_Mutation_p.Y366H	NM_006904	NP_008835	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic	366					cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			lung(12)|central_nervous_system(9)|ovary(6)|skin(4)|large_intestine(3)	34		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				AAAAGTCCATATCCACGGATA	0.333								NHEJ				
RB1CC1	9821	broad.mit.edu	37	8	53540632	53540632	+	Silent	SNP	T	T	C			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr8:53540632T>C	uc003xre.3	-	22	5154	c.4596A>G	c.(4594-4596)TCA>TCG	p.S1532S	RB1CC1_uc003xrf.3_Silent_p.S1532S	NM_014781	NP_055596	Q8TDY2	RBCC1_HUMAN	Rb1-inducible coiled coil protein 1 isoform 1	1532					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)				GTAGAGACTCTGAATGTAGAA	0.383												
RB1CC1	9821	broad.mit.edu	37	8	53573539	53573539	+	Missense_Mutation	SNP	T	T	G			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr8:53573539T>G	uc003xre.3	-	11	2132	c.1574A>C	c.(1573-1575)AAG>ACG	p.K525T	RB1CC1_uc003xrf.3_Missense_Mutation_p.K525T	NM_014781	NP_055596	Q8TDY2	RBCC1_HUMAN	Rb1-inducible coiled coil protein 1 isoform 1	525					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)				ATATAATCTCTTTCCATCTTT	0.284												
NPBWR1	2831	broad.mit.edu	37	8	53853024	53853024	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr8:53853024G>A	uc011ldu.1	+	1	557	c.557G>A	c.(556-558)CGC>CAC	p.R186H		NM_005285	NP_005276	P48145	NPBW1_HUMAN	G protein-coupled receptor 7	186	Extracellular (Potential).				synaptic transmission	plasma membrane	opioid receptor activity|protein binding			ovary(2)|breast(1)	3		Lung NSC(129;0.0222)|all_epithelial(80;0.0301)|all_lung(136;0.0431)				CAGGGCCGGCGCCAGTGCGTG	0.706												
CHD7	55636	broad.mit.edu	37	8	61654300	61654300	+	Silent	SNP	G	G	A	rs115293759	by1000genomes	TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr8:61654300G>A	uc003xue.2	+	2	786	c.309G>A	c.(307-309)TCG>TCA	p.S103S		NM_017780	NP_060250	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	103					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)			CTCCGCACTCGCAGTATCACA	0.542												
CHD7	55636	broad.mit.edu	37	8	61654770	61654770	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr8:61654770C>T	uc003xue.2	+	2	1256	c.779C>T	c.(778-780)CCC>CTC	p.P260L		NM_017780	NP_060250	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	260					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)			CATCACCACCCCTCTACTGCT	0.582												
CHD7	55636	broad.mit.edu	37	8	61764728	61764728	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr8:61764728G>A	uc003xue.2	+	29	6293	c.5816G>A	c.(5815-5817)CGG>CAG	p.R1939Q		NM_017780	NP_060250	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	1939	Poly-Arg.				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)			AAGACTGACCGGCGCAGACGG	0.522												
C8orf45	157777	broad.mit.edu	37	8	67793093	67793093	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr8:67793093T>C	uc003xwz.3	+	8	890	c.719T>C	c.(718-720)GTG>GCG	p.V240A	C8orf45_uc003xwv.2_Missense_Mutation_p.V240A|C8orf45_uc011lev.1_Missense_Mutation_p.V240A|C8orf45_uc011lew.1_Missense_Mutation_p.V171A|C8orf45_uc011lex.1_5'UTR|C8orf45_uc003xwy.3_Missense_Mutation_p.V240A	NM_173518	NP_775789	Q4G0Z9	CH045_HUMAN	minichromosome maintenance complex	240					DNA replication		ATP binding|DNA binding			ovary(1)	1	Breast(64;0.186)		Epithelial(68;0.00384)|OV - Ovarian serous cystadenocarcinoma(28;0.00913)|all cancers(69;0.0175)|BRCA - Breast invasive adenocarcinoma(89;0.206)			GATGAATCAGTGAATAAAATG	0.279												
COPS5	10987	broad.mit.edu	37	8	67963489	67963489	+	Silent	SNP	C	C	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr8:67963489C>T	uc003xxe.2	-	6	1078	c.747G>A	c.(745-747)ACG>ACA	p.T249T	COPS5_uc003xxd.2_Silent_p.T185T|COPS5_uc003xxf.2_Silent_p.T294T|COPS5_uc010lyu.1_RNA|COPS5_uc010lyv.1_Silent_p.T249T	NM_006837	NP_006828	Q92905	CSN5_HUMAN	COP9 signalosome subunit 5	249					cullin deneddylation|transcription from RNA polymerase II promoter	eukaryotic translation initiation factor 3 complex|signalosome	metal ion binding|metallopeptidase activity|protein binding|transcription coactivator activity|translation initiation factor activity			ovary(1)|skin(1)	2	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.00389)|OV - Ovarian serous cystadenocarcinoma(28;0.00691)|all cancers(69;0.0205)|BRCA - Breast invasive adenocarcinoma(89;0.153)			AAGAACTCAACGTATTCACCC	0.323												
SLCO5A1	81796	broad.mit.edu	37	8	70744651	70744651	+	Silent	SNP	C	C	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr8:70744651C>T	uc003xyl.2	-	2	965	c.258G>A	c.(256-258)CCG>CCA	p.P86P	SLCO5A1_uc010lzb.2_Silent_p.P86P|SLCO5A1_uc011lfa.1_RNA|SLCO5A1_uc003xyk.2_Silent_p.P86P|SLCO5A1_uc010lzc.2_Silent_p.P86P	NM_030958	NP_112220	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family,	86	Cytoplasmic (Potential).					integral to membrane|plasma membrane	transporter activity			ovary(3)|upper_aerodigestive_tract(1)	4	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			CCGAAGTGGACGGGGCAGAGG	0.642											OREG0018815	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
TMEM70	54968	broad.mit.edu	37	8	74893786	74893786	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr8:74893786A>G	uc003yab.2	+	3	800	c.713A>G	c.(712-714)TAT>TGT	p.Y238C	TMEM70_uc003yac.2_3'UTR	NM_017866	NP_060336	Q9BUB7	TMM70_HUMAN	transmembrane protein 70 isoform a	238					mitochondrial proton-transporting ATP synthase complex assembly	integral to mitochondrial membrane|mitochondrial inner membrane				ovary(1)	1	Breast(64;0.0311)		Epithelial(68;0.0186)|BRCA - Breast invasive adenocarcinoma(89;0.0499)|all cancers(69;0.0564)			CTAATGGGTTATGACAAAGAA	0.338												
JPH1	56704	broad.mit.edu	37	8	75227418	75227418	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr8:75227418C>T	uc003yae.2	-	2	857	c.817G>A	c.(817-819)GTG>ATG	p.V273M	JPH1_uc003yaf.2_Missense_Mutation_p.V273M|JPH1_uc003yag.1_Missense_Mutation_p.V137M	NM_020647	NP_065698	Q9HDC5	JPH1_HUMAN	junctophilin 1	273	Cytoplasmic (Potential).				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional membrane complex|junctional sarcoplasmic reticulum membrane|plasma membrane				ovary(1)	1	Breast(64;0.00576)		BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.0728)|all cancers(69;0.176)			GTGGCGTCCACGTGGTCTTCC	0.567												
ZFHX4	79776	broad.mit.edu	37	8	77776241	77776241	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr8:77776241C>T	uc003yav.2	+	11	10543	c.10156C>T	c.(10156-10158)CCT>TCT	p.P3386S		NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	zinc finger homeodomain 4	3382						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)			TTTCGGTCAGCCTTTGATTGA	0.438										HNSCC(33;0.089)		
CA3	761	broad.mit.edu	37	8	86358463	86358463	+	Silent	SNP	G	G	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr8:86358463G>A	uc003ydj.2	+	6	683	c.600G>A	c.(598-600)CCG>CCA	p.P200P	CA3_uc011lfv.1_RNA	NM_005181	NP_005172	P07451	CAH3_HUMAN	carbonic anhydrase III	200					one-carbon metabolic process	cytoplasm	carbonate dehydratase activity|zinc ion binding				0						TCACCACGCCGCCCTGCGAGG	0.597												
RBM12B	389677	broad.mit.edu	37	8	94747516	94747516	+	Missense_Mutation	SNP	A	A	C			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr8:94747516A>C	uc003yfz.2	-	3	1316	c.1123T>G	c.(1123-1125)TCA>GCA	p.S375A		NM_203390	NP_976324	Q8IXT5	RB12B_HUMAN	RNA binding motif protein 12B	375							nucleotide binding|RNA binding				0	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.0168)			AGTGACCCTGATCTCTTCTTT	0.368												
CDH17	1015	broad.mit.edu	37	8	95174358	95174358	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr8:95174358C>T	uc003ygh.2	-	11	1440	c.1315G>A	c.(1315-1317)GTT>ATT	p.V439I	CDH17_uc011lgo.1_Missense_Mutation_p.V225I|CDH17_uc011lgp.1_Missense_Mutation_p.V439I	NM_004063	NP_004054	Q12864	CAD17_HUMAN	cadherin 17 precursor	439	Extracellular (Potential).|Cadherin 4.					integral to membrane	calcium ion binding			ovary(5)|skin(1)	6	Breast(36;4.65e-06)		BRCA - Breast invasive adenocarcinoma(8;0.00691)			ATATCAATAACGTTGATTTGC	0.303												
GEM	2669	broad.mit.edu	37	8	95272654	95272654	+	Silent	SNP	A	A	G	rs151310883	byFrequency	TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr8:95272654A>G	uc003ygj.2	-	2	327	c.78T>C	c.(76-78)GCT>GCC	p.A26A	GEM_uc003ygi.2_Silent_p.A26A	NM_005261	NP_005252	P55040	GEM_HUMAN	GTP-binding mitogen-induced T-cell protein	26					cell surface receptor linked signaling pathway|immune response|small GTPase mediated signal transduction	internal side of plasma membrane	calmodulin binding|GDP binding|GTP binding|GTPase activity|magnesium ion binding			lung(1)	1	Breast(36;4.65e-06)	Myeloproliferative disorder(644;0.204)	BRCA - Breast invasive adenocarcinoma(8;0.00691)			GCCTGCCATCAGCTGGGATGC	0.607												
VPS13B	157680	broad.mit.edu	37	8	100836166	100836166	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr8:100836166A>G	uc003yiv.2	+	51	9476	c.9365A>G	c.(9364-9366)AAA>AGA	p.K3122R	VPS13B_uc003yiw.2_Missense_Mutation_p.K3097R	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13B isoform 5	3122					protein transport					ovary(7)|skin(4)|lung(3)|central_nervous_system(2)|pancreas(2)|breast(1)|kidney(1)	20	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			ATATTTTATAAACCACAGCTA	0.328												
SPAG1	6674	broad.mit.edu	37	8	101232551	101232551	+	Missense_Mutation	SNP	G	G	A	rs150325048		TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr8:101232551G>A	uc003yjh.1	+	13	1666	c.1580G>A	c.(1579-1581)CGG>CAG	p.R527Q	SPAG1_uc003yji.1_Missense_Mutation_p.R527Q	NM_172218	NP_757367	Q07617	SPAG1_HUMAN	sperm associated antigen 1	527	TPR 6.				single fertilization	cytoplasm	GTP binding|hydrolase activity			ovary(2)|central_nervous_system(1)	3	all_cancers(14;2.35e-05)|all_epithelial(15;5.2e-08)|Lung NSC(17;0.000283)|all_lung(17;0.000823)	Breast(495;0.195)	Epithelial(11;1.12e-09)|all cancers(13;1.26e-07)|OV - Ovarian serous cystadenocarcinoma(57;4.37e-05)|STAD - Stomach adenocarcinoma(118;0.0525)	KIRC - Kidney renal clear cell carcinoma(542;0.00178)|READ - Rectum adenocarcinoma(644;0.236)		CTTCTGAGGCGGGCGATGGCC	0.398												
GRHL2	79977	broad.mit.edu	37	8	102571012	102571012	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr8:102571012G>A	uc010mbu.2	+	4	980	c.650G>A	c.(649-651)AGC>AAC	p.S217N	GRHL2_uc011lhi.1_Missense_Mutation_p.S217N	NM_024915	NP_079191	Q6ISB3	GRHL2_HUMAN	transcription factor CP2-like 3	217						cytoplasm|nucleus	DNA binding			ovary(2)|skin(1)	3	all_cancers(14;4.39e-08)|all_epithelial(15;4.09e-10)|Lung NSC(17;7.11e-06)|all_lung(17;1.44e-05)		Epithelial(11;5.81e-09)|all cancers(13;3.81e-07)|OV - Ovarian serous cystadenocarcinoma(57;0.000213)			AGCACATACAGCGAGAGCTTC	0.547												
FZD6	8323	broad.mit.edu	37	8	104312361	104312361	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr8:104312361C>T	uc003ylh.2	+	2	310	c.26C>T	c.(25-27)ACG>ATG	p.T9M	FZD6_uc003yli.2_Missense_Mutation_p.T9M|FZD6_uc003ylj.2_Missense_Mutation_p.T9M|FZD6_uc011lhn.1_Intron|FZD6_uc011lho.1_Translation_Start_Site|FZD6_uc011lhp.1_Translation_Start_Site	NM_003506	NP_003497	O60353	FZD6_HUMAN	frizzled 6 isoform a precursor	9					angiogenesis|axonogenesis|cell proliferation in midbrain|establishment of planar polarity|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|inner ear morphogenesis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|neural tube closure|non-canonical Wnt receptor signaling pathway	apical part of cell|apicolateral plasma membrane|cytoplasm|integral to plasma membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			central_nervous_system(1)|skin(1)	2			OV - Ovarian serous cystadenocarcinoma(57;2.86e-05)|STAD - Stomach adenocarcinoma(118;0.197)			TTTTTGTTGACGTGTATTTTT	0.398												
RIMS2	9699	broad.mit.edu	37	8	105105763	105105763	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr8:105105763A>G	uc003yls.2	+	21	3027	c.2786A>G	c.(2785-2787)GAT>GGT	p.D929G	RIMS2_uc003ylp.2_Intron|RIMS2_uc003ylw.2_Missense_Mutation_p.D1002G|RIMS2_uc003ylq.2_Intron|RIMS2_uc003ylr.2_Intron	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			ovary(6)|lung(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	15			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			TCGGACAGTGATGTAAGTGAT	0.438										HNSCC(12;0.0054)		
EIF3H	8667	broad.mit.edu	37	8	117671196	117671196	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr8:117671196G>A	uc003yoa.2	-	3	339	c.313C>T	c.(313-315)CGG>TGG	p.R105W	EIF3H_uc003yob.2_Missense_Mutation_p.R119W|EIF3H_uc011lhz.1_Missense_Mutation_p.R105W	NM_003756	NP_003747	O15372	EIF3H_HUMAN	eukaryotic translation initiation factor 3,	105	MPN.				regulation of translational initiation	cytosol|eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity			lung(3)	3	all_cancers(13;3.98e-22)|Lung NSC(37;0.000183)|Ovarian(258;0.0172)					CGAAGGCTCCGCATCATTTCC	0.428												
SAMD12	401474	broad.mit.edu	37	8	119391937	119391937	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr8:119391937G>A	uc003yom.2	-	4	454	c.325C>T	c.(325-327)CGA>TGA	p.R109*	SAMD12_uc010mda.1_Nonsense_Mutation_p.R109*|SAMD12_uc010mdb.1_RNA	NM_207506	NP_997389	Q8N8I0	SAM12_HUMAN	sterile alpha motif domain containing 12 isoform	109	SAM.									ovary(1)	1	all_cancers(13;3.91e-25)|Lung NSC(37;1.13e-07)|Ovarian(258;0.0249)		STAD - Stomach adenocarcinoma(47;0.00391)			AGCAGGGCTCGCCCTGCAGGG	0.473												
ANXA13	312	broad.mit.edu	37	8	124714949	124714949	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr8:124714949A>G	uc003yqu.2	-	3	192	c.119T>C	c.(118-120)ATC>ACC	p.I40T	ANXA13_uc003yqt.2_Missense_Mutation_p.I81T	NM_004306	NP_004297	P27216	ANX13_HUMAN	annexin A13 isoform a	40	Annexin 1.				cell differentiation	plasma membrane	calcium ion binding|calcium-dependent phospholipid binding			ovary(1)|pancreas(1)|skin(1)	3	Lung NSC(37;2.06e-11)|Ovarian(258;0.00579)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00288)			GCCCGATAAGATTTCAATGAT	0.453												
EFR3A	23167	broad.mit.edu	37	8	132989340	132989340	+	Splice_Site	SNP	G	G	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr8:132989340G>T	uc003yte.2	+	12	1527	c.1326_splice	c.e12+1	p.M442_splice		NM_015137	NP_055952	Q14156	EFR3A_HUMAN	EFR3 homolog A							plasma membrane	binding			ovary(3)|breast(1)|central_nervous_system(1)	5	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)|LUAD - Lung adenocarcinoma(14;0.102)			TTTGCTTATGGTAAGGCATTT	0.294												
KCNQ3	3786	broad.mit.edu	37	8	133141583	133141583	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr8:133141583C>T	uc003ytj.2	-	15	2770	c.2545G>A	c.(2545-2547)GGC>AGC	p.G849S	KCNQ3_uc010mdt.2_Missense_Mutation_p.G837S|uc003yti.2_5'Flank	NM_004519	NP_004510	O43525	KCNQ3_HUMAN	potassium voltage-gated channel KQT-like protein	849					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			ovary(2)|breast(1)|central_nervous_system(1)|skin(1)	5	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			GGCATGGAGCCGCTGGGCGTG	0.582												
TG	7038	broad.mit.edu	37	8	133919026	133919026	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr8:133919026A>G	uc003ytw.2	+	17	3769	c.3728A>G	c.(3727-3729)CAG>CGG	p.Q1243R	TG_uc010mdw.2_Missense_Mutation_p.Q2R	NM_003235	NP_003226	P01266	THYG_HUMAN	thyroglobulin precursor	1243					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			ovary(8)|breast(4)|pancreas(1)|central_nervous_system(1)|skin(1)	15	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		TCTGCCATGCAGCAGTGCCAA	0.627												
TG	7038	broad.mit.edu	37	8	134144191	134144191	+	Splice_Site	SNP	G	G	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr8:134144191G>T	uc003ytw.2	+	46	8038	c.7997_splice	c.e46+1	p.G2666_splice	TG_uc010mdw.2_Splice_Site_p.G1425_splice|TG_uc011ljb.1_Splice_Site_p.G1035_splice|TG_uc011ljc.1_Splice_Site_p.G799_splice	NM_003235	NP_003226	P01266	THYG_HUMAN	thyroglobulin precursor						hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			ovary(8)|breast(4)|pancreas(1)|central_nervous_system(1)|skin(1)	15	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		TCAGATCAGGGTAATTTTGGA	0.488												
WISP1	8840	broad.mit.edu	37	8	134232898	134232898	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr8:134232898T>C	uc003yub.2	+	3	500	c.424T>C	c.(424-426)TAC>CAC	p.Y142H	WISP1_uc003yuc.2_Intron|WISP1_uc010meb.2_Intron|WISP1_uc010mec.2_Intron|WISP1_uc010med.2_Intron|WISP1_uc003yud.2_Intron	NM_003882	NP_003873	O95388	WISP1_HUMAN	WNT1 inducible signaling pathway protein 1	142	VWFC.				cell adhesion|cell-cell signaling|regulation of cell growth|Wnt receptor signaling pathway	extracellular region|soluble fraction	insulin-like growth factor binding			central_nervous_system(1)|kidney(1)	2	all_epithelial(106;5.39e-23)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0107)			TAACTGCAAGTACAACTGCAC	0.672												
WISP1	8840	broad.mit.edu	37	8	134233083	134233083	+	Silent	SNP	C	C	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr8:134233083C>T	uc003yub.2	+	3	685	c.609C>T	c.(607-609)TTC>TTT	p.F203F	WISP1_uc003yuc.2_Intron|WISP1_uc010meb.2_Intron|WISP1_uc010mec.2_Intron|WISP1_uc010med.2_Intron|WISP1_uc003yud.2_Intron	NM_003882	NP_003873	O95388	WISP1_HUMAN	WNT1 inducible signaling pathway protein 1	203					cell adhesion|cell-cell signaling|regulation of cell growth|Wnt receptor signaling pathway	extracellular region|soluble fraction	insulin-like growth factor binding			central_nervous_system(1)|kidney(1)	2	all_epithelial(106;5.39e-23)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0107)			CAGGAGCCTTCGGTGGGTGTG	0.622												
FAM135B	51059	broad.mit.edu	37	8	139190804	139190804	+	Missense_Mutation	SNP	G	G	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr8:139190804G>T	uc003yuy.2	-	10	1174	c.1003C>A	c.(1003-1005)CTC>ATC	p.L335I	FAM135B_uc003yux.2_Missense_Mutation_p.L236I|FAM135B_uc003yuz.2_RNA	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	hypothetical protein LOC51059	335										ovary(7)|skin(2)	9	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			TCCTGGGTGAGATAAGTGGTC	0.507										HNSCC(54;0.14)		
TRAPPC9	83696	broad.mit.edu	37	8	141321391	141321391	+	Silent	SNP	G	G	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr8:141321391G>A	uc003yvj.2	-	10	1712	c.1578C>T	c.(1576-1578)GGC>GGT	p.G526G	TRAPPC9_uc003yvh.2_Silent_p.G624G|TRAPPC9_uc003yvi.1_Silent_p.G517G	NM_001160372	NP_001153844	Q96Q05	TPPC9_HUMAN	trafficking protein particle complex 9 isoform	526					cell differentiation	endoplasmic reticulum|Golgi apparatus				skin(2)	2						GCAGGGTGAGGCCGCCAGGGA	0.582												
BAI1	575	broad.mit.edu	37	8	143602199	143602199	+	Silent	SNP	G	G	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr8:143602199G>A	uc003ywm.2	+	19	3120	c.2937G>A	c.(2935-2937)GAG>GAA	p.E979E		NM_001702	NP_001693	O14514	BAI1_HUMAN	brain-specific angiogenesis inhibitor 1	979	Cytoplasmic (Potential).				axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development	cell-cell junction|integral to plasma membrane	G-protein coupled receptor activity|protein binding			lung(3)|ovary(2)|breast(1)|central_nervous_system(1)|pancreas(1)	8	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					TTCGCTCAGAGCGTTCTGTCA	0.582												
LY6D	8581	broad.mit.edu	37	8	143867013	143867013	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr8:143867013G>A	uc003yxf.1	-	2	219	c.143C>T	c.(142-144)ACG>ATG	p.T48M		NM_003695	NP_003686	Q14210	LY6D_HUMAN	lymphocyte antigen 6 complex, locus D precursor	48	UPAR/Ly6.				cell adhesion	anchored to membrane|membrane fraction|plasma membrane	protein binding				0	all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					ACCTGTGTTCGTGGTCTTGCA	0.642												
MAPK15	225689	broad.mit.edu	37	8	144803816	144803816	+	Missense_Mutation	SNP	G	G	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr8:144803816G>T	uc003yzj.2	+	12	1343	c.1302G>T	c.(1300-1302)AAG>AAT	p.K434N		NM_139021	NP_620590	Q8TD08	MK15_HUMAN	mitogen-activated protein kinase 15	434					protein autophosphorylation	extracellular region	ATP binding|MAP kinase activity|SH3 domain binding			lung(2)	2	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			CTGGGGCGAAGGAAGCGCCCC	0.637												
FAM83H	286077	broad.mit.edu	37	8	144811445	144811445	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr8:144811445C>T	uc003yzk.2	-	3	565	c.496G>A	c.(496-498)GAA>AAA	p.E166K	FAM83H_uc010mfk.1_5'Flank	NM_198488	NP_940890	Q6ZRV2	FA83H_HUMAN	FAM83H	166					biomineral tissue development					lung(1)|central_nervous_system(1)|pancreas(1)	3	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			TCCAGCACTTCGCTGAGCAGG	0.637												
NRBP2	340371	broad.mit.edu	37	8	144921062	144921062	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr8:144921062G>A	uc011lkt.1	-	9	877	c.737C>T	c.(736-738)GCG>GTG	p.A246V	NRBP2_uc003yzv.2_Missense_Mutation_p.A3V|NRBP2_uc003yzz.1_5'Flank|NRBP2_uc003yzw.2_5'Flank|NRBP2_uc010mfl.2_5'Flank|NRBP2_uc010mfm.2_Missense_Mutation_p.A3V|NRBP2_uc011lks.1_Missense_Mutation_p.A3V|NRBP2_uc003yzy.2_Missense_Mutation_p.A3V	NM_178564	NP_848659	Q9NSY0	NRBP2_HUMAN	nuclear receptor binding protein 2	246	Protein kinase.				negative regulation of neuron apoptosis|neuron differentiation	cytoplasm	ATP binding|protein kinase activity			central_nervous_system(2)	2	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;6.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			TACCTCCAGCGCACACATCCC	0.622												
EPPK1	83481	broad.mit.edu	37	8	144944907	144944907	+	Missense_Mutation	SNP	A	A	C			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr8:144944907A>C	uc003zaa.1	-	1	2528	c.2515T>G	c.(2515-2517)TCT>GCT	p.S839A		NM_031308	NP_112598	P58107	EPIPL_HUMAN	epiplakin 1	839						cytoplasm|cytoskeleton	protein binding|structural molecule activity			pancreas(1)|skin(1)	2	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			AAGTACTCAGAGTTGATCAGC	0.652												
PLEC	5339	broad.mit.edu	37	8	144993950	144993950	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr8:144993950C>T	uc003zaf.1	-	32	10620	c.10450G>A	c.(10450-10452)GTG>ATG	p.V3484M	PLEC_uc003zab.1_Missense_Mutation_p.V3347M|PLEC_uc003zac.1_Missense_Mutation_p.V3351M|PLEC_uc003zad.2_Missense_Mutation_p.V3347M|PLEC_uc003zae.1_Missense_Mutation_p.V3315M|PLEC_uc003zag.1_Missense_Mutation_p.V3325M|PLEC_uc003zah.2_Missense_Mutation_p.V3333M|PLEC_uc003zaj.2_Missense_Mutation_p.V3374M	NM_201380	NP_958782	Q15149	PLEC_HUMAN	plectin isoform 1	3484	Globular 2.				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						AGCGTCCGCACGGAGCCCAGC	0.657												
HEATR7A	727957	broad.mit.edu	37	8	145278100	145278100	+	Silent	SNP	C	C	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr8:145278100C>T	uc003zbk.3	+	14	1542	c.1305C>T	c.(1303-1305)ATC>ATT	p.I435I	HEATR7A_uc011lla.1_Silent_p.I435I|HEATR7A_uc010mft.2_Silent_p.I435I	NM_032450	NP_115826	Q8NDA8	HTR7A_HUMAN	HEAT repeat containing 7A isoform 1	435							binding				0						TCGAGTACATCGTGCAGCAGT	0.662												
NFKBIL2	4796	broad.mit.edu	37	8	145667679	145667679	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr8:145667679G>A	uc011llg.1	-	6	710	c.695C>T	c.(694-696)GCG>GTG	p.A232V		NM_013432	NP_038460	Q96HA7	TONSL_HUMAN	NF-kappa-B inhibitor-like protein 2	232	TPR 5.				cytoplasmic sequestering of transcription factor|double-strand break repair via homologous recombination|replication fork processing	cytoplasm|nuclear replication fork	histone binding|transcription corepressor activity				0	all_cancers(97;4.61e-11)|all_epithelial(106;2.89e-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;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)			CATGGTGTGCGCACACTCCCG	0.647												
PPP1R16A	84988	broad.mit.edu	37	8	145725483	145725483	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr8:145725483G>A	uc003zdd.2	+	5	1394	c.481G>A	c.(481-483)GCC>ACC	p.A161T	uc003zde.1_5'Flank|PPP1R16A_uc003zdf.2_Missense_Mutation_p.A161T|GPT_uc011lli.1_5'Flank	NM_032902	NP_116291	Q96I34	PP16A_HUMAN	protein phosphatase 1, regulatory (inhibitor)	161	ANK 3.					plasma membrane	protein binding				0	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)			CTGCAGTGGCGCCAATCTCCT	0.657												
ARHGAP39	80728	broad.mit.edu	37	8	145830920	145830920	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr8:145830920C>T	uc003zdt.1	-	3	635	c.80G>A	c.(79-81)CGG>CAG	p.R27Q	ARHGAP39_uc011llk.1_Missense_Mutation_p.R27Q|ARHGAP39_uc003zds.1_Missense_Mutation_p.R27Q	NM_025251	NP_079527	Q9C0H5	RHG39_HUMAN	KIAA1688 protein	27	WW 1.				axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|nucleus	GTPase activator activity				0						GGCTCCTTACCGAGTGTTCGA	0.602												
ZNF7	7553	broad.mit.edu	37	8	146067087	146067087	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr8:146067087G>A	uc003zeg.3	+	5	732	c.595G>A	c.(595-597)GAG>AAG	p.E199K	ZNF7_uc010mge.2_Missense_Mutation_p.E210K|ZNF7_uc011lln.1_Missense_Mutation_p.E103K|ZNF7_uc003zeh.2_Intron|ZNF7_uc003zek.3_Missense_Mutation_p.E103K|COMMD5_uc003zel.1_RNA	NM_003416	NP_003407	P17097	ZNF7_HUMAN	zinc finger protein 7	199					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(4)	4	all_cancers(97;1.03e-11)|all_epithelial(106;6.69e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Breast(495;0.0812)|Ovarian(118;0.0822)|Acute lymphoblastic leukemia(644;0.143)	Epithelial(56;8.75e-39)|OV - Ovarian serous cystadenocarcinoma(54;1.13e-38)|all cancers(56;8.48e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;2.11e-07)		CCAGAGATGCGAGGAGTGTGG	0.502												
C8orf33	65265	broad.mit.edu	37	8	146278736	146278736	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr8:146278736C>T	uc003zfc.3	+	4	511	c.457C>T	c.(457-459)CCC>TCC	p.P153S	C8orf33_uc003zfd.2_RNA	NM_023080	NP_075568	Q9H7E9	CH033_HUMAN	hypothetical protein LOC65265	153											0	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Epithelial(56;9.1e-38)|all cancers(56;7.37e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0424)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.243)		AACGCCCTTGCCCCGGAAGAG	0.537												
RFX3	5991	broad.mit.edu	37	9	3257056	3257056	+	Silent	SNP	G	G	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr9:3257056G>T	uc003zhr.2	-	15	2061	c.1749C>A	c.(1747-1749)CCC>CCA	p.P583P	RFX3_uc010mhd.2_Silent_p.P583P|RFX3_uc003zhs.1_Silent_p.P583P	NM_134428	NP_602304	P48380	RFX3_HUMAN	regulatory factor X3 isoform b	583					cell maturation|ciliary cell motility|cilium assembly|cilium movement involved in determination of left/right asymmetry|endocrine pancreas development|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type B pancreatic cell development|regulation of insulin secretion	nuclear chromatin	protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding			ovary(2)|central_nervous_system(1)|pancreas(1)	4				GBM - Glioblastoma multiforme(50;0.00124)|Lung(2;0.0337)		TTCCTTCATAGGGTTTCAGTG	0.468												
GLIS3	169792	broad.mit.edu	37	9	3828391	3828391	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr9:3828391T>C	uc003zhw.1	-	10	2403	c.2209A>G	c.(2209-2211)AGT>GGT	p.S737G	GLIS3_uc003zhx.1_Missense_Mutation_p.S892G|GLIS3_uc010mhf.1_Missense_Mutation_p.S286G|GLIS3_uc003zhv.1_RNA	NM_152629	NP_689842	Q8NEA6	GLIS3_HUMAN	GLIS family zinc finger 3 isoform b	737					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		DNA binding|zinc ion binding			ovary(1)	1		Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148)		Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148)		CTCGAGGAACTTGAAGGTAAA	0.537												
JAK2	3717	broad.mit.edu	37	9	5022214	5022214	+	Splice_Site	SNP	G	G	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr9:5022214G>A	uc010mhm.2	+	2	339	c.226_splice	c.e2+1	p.G76_splice	JAK2_uc003ziw.2_Splice_Site_p.G76_splice	NM_004972	NP_004963	O60674	JAK2_HUMAN	Janus kinase 2						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)		AAAGCTTGTGGTAAGTATTAA	0.323		1	T|Mis|O	ETV6|PCM1|BCR	ALL|AML|MPD| CML				Polycythemia_Vera_Familial			
FREM1	158326	broad.mit.edu	37	9	14851500	14851500	+	Missense_Mutation	SNP	G	G	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr9:14851500G>T	uc003zlm.2	-	6	1524	c.934C>A	c.(934-936)CTG>ATG	p.L312M	FREM1_uc010mic.2_RNA	NM_144966	NP_659403	Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1 precursor	312	CSPG 1.				cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			ovary(2)|breast(2)|pancreas(1)	5				GBM - Glioblastoma multiforme(50;3.53e-06)		AAGGAGGTCAGGATGAACTGA	0.488												
KIAA1797	54914	broad.mit.edu	37	9	20789392	20789392	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr9:20789392A>G	uc003zog.1	+	13	1603	c.1240A>G	c.(1240-1242)ACA>GCA	p.T414A		NM_017794	NP_060264	Q5VW36	K1797_HUMAN	hypothetical protein LOC54914	414	Helical; (Potential).					integral to membrane	binding			ovary(8)|breast(1)|kidney(1)	10				GBM - Glioblastoma multiforme(3;2.1e-125)|Lung(42;2.76e-14)|LUSC - Lung squamous cell carcinoma(42;1.99e-11)		TATGTATGGTACAATATTTAC	0.393												
C9orf82	79886	broad.mit.edu	37	9	26842611	26842611	+	Silent	SNP	A	A	G			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr9:26842611A>G	uc003zqc.2	-	6	786	c.774T>C	c.(772-774)AAT>AAC	p.N258N	C9orf82_uc003zqb.2_Silent_p.N113N	NM_024828	NP_079104	Q9H8G2	CI082_HUMAN	hypothetical protein LOC79886	258											0		all_neural(3;3.53e-10)|Glioma(3;2.71e-09)		Lung(42;1.39e-05)|LUSC - Lung squamous cell carcinoma(38;0.000114)		AAGCATCTGCATTTATACTGA	0.433												
ACO1	48	broad.mit.edu	37	9	32418455	32418455	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr9:32418455G>A	uc003zqw.3	+	6	759	c.604G>A	c.(604-606)GTG>ATG	p.V202M	ACO1_uc010mjh.1_Missense_Mutation_p.V36M|ACO1_uc003zqx.3_Missense_Mutation_p.V202M|ACO1_uc003zqy.3_RNA	NM_002197	NP_002188	P21399	ACOC_HUMAN	aconitase 1	202					citrate metabolic process|response to iron(II) ion|tricarboxylic acid cycle	cytosol|endoplasmic reticulum|Golgi apparatus	4 iron, 4 sulfur cluster binding|aconitate hydratase activity|citrate hydro-lyase (cis-aconitate-forming) activity|iron-responsive element binding|isocitrate hydro-lyase (cis-aconitate-forming) activity|metal ion binding|protein binding				0			LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;3.94e-06)		AGACAGCCTCGTGGGCACAGA	0.458												
ACO1	48	broad.mit.edu	37	9	32436322	32436322	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr9:32436322C>T	uc003zqw.3	+	18	2329	c.2174C>T	c.(2173-2175)GCC>GTC	p.A725V	ACO1_uc010mjh.1_3'UTR|ACO1_uc003zqx.3_Missense_Mutation_p.A725V|ACO1_uc003zqy.3_RNA	NM_002197	NP_002188	P21399	ACOC_HUMAN	aconitase 1	725					citrate metabolic process|response to iron(II) ion|tricarboxylic acid cycle	cytosol|endoplasmic reticulum|Golgi apparatus	4 iron, 4 sulfur cluster binding|aconitate hydratase activity|citrate hydro-lyase (cis-aconitate-forming) activity|iron-responsive element binding|isocitrate hydro-lyase (cis-aconitate-forming) activity|metal ion binding|protein binding				0			LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;3.94e-06)		GGAACATTTGCCAACATTCGC	0.493												
TAF1L	138474	broad.mit.edu	37	9	32631546	32631546	+	Silent	SNP	G	G	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr9:32631546G>A	uc003zrg.1	-	1	4122	c.4032C>T	c.(4030-4032)TTC>TTT	p.F1344F	uc003zrh.1_5'Flank	NM_153809	NP_722516	Q8IZX4	TAF1L_HUMAN	TBP-associated factor RNA polymerase 1-like	1344					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding			lung(8)|skin(6)|central_nervous_system(4)|large_intestine(3)|ovary(2)|stomach(1)|breast(1)|pancreas(1)	26			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		GCTGTTTCCCGAAGACAATTT	0.428												
TAF1L	138474	broad.mit.edu	37	9	32632408	32632408	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr9:32632408T>C	uc003zrg.1	-	1	3260	c.3170A>G	c.(3169-3171)CAT>CGT	p.H1057R	uc003zrh.1_5'Flank	NM_153809	NP_722516	Q8IZX4	TAF1L_HUMAN	TBP-associated factor RNA polymerase 1-like	1057					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding			lung(8)|skin(6)|central_nervous_system(4)|large_intestine(3)|ovary(2)|stomach(1)|breast(1)|pancreas(1)	26			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		CTCTCCAGAATGAGCCTGTTC	0.468												
RECK	8434	broad.mit.edu	37	9	36118810	36118810	+	Missense_Mutation	SNP	T	T	G			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr9:36118810T>G	uc003zyv.2	+	18	2396	c.2310T>G	c.(2308-2310)AGT>AGG	p.S770R	RECK_uc003zyw.2_Missense_Mutation_p.S642R|RECK_uc003zyx.2_RNA	NM_021111	NP_066934	O95980	RECK_HUMAN	RECK protein precursor	770	Kazal-like 3.					anchored to membrane|peripheral to membrane of membrane fraction|plasma membrane	metalloendopeptidase inhibitor activity|serine-type endopeptidase inhibitor activity			skin(2)|ovary(1)	3			LUSC - Lung squamous cell carcinoma(32;0.112)|STAD - Stomach adenocarcinoma(86;0.228)			CCTACAGCAGTGTGTGTGCTG	0.557												
MELK	9833	broad.mit.edu	37	9	36589613	36589613	+	Silent	SNP	G	G	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr9:36589613G>A	uc003zzn.2	+	4	363	c.225G>A	c.(223-225)GTG>GTA	p.V75V	MELK_uc011lpm.1_5'UTR|MELK_uc011lpn.1_Silent_p.V75V|MELK_uc011lpo.1_5'UTR|MELK_uc010mll.2_Silent_p.V43V|MELK_uc011lpp.1_Silent_p.V75V|MELK_uc010mlm.2_Intron|MELK_uc011lpq.1_5'UTR|MELK_uc011lpr.1_Silent_p.V75V|MELK_uc011lps.1_Silent_p.V43V	NM_014791	NP_055606	Q14680	MELK_HUMAN	maternal embryonic leucine zipper kinase	75	Protein kinase.					cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity			ovary(3)|upper_aerodigestive_tract(1)|lung(1)|skin(1)	6		Acute lymphoblastic leukemia(2;1.09e-08)|all_hematologic(2;8.15e-06)	STAD - Stomach adenocarcinoma(86;0.228)			TCTACCATGTGCTAGAGACAG	0.383												
PGM5	5239	broad.mit.edu	37	9	70993145	70993145	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr9:70993145A>G	uc004agr.2	+	2	521	c.292A>G	c.(292-294)ATC>GTC	p.I98V		NM_021965	NP_068800	Q15124	PGM5_HUMAN	phosphoglucomutase 5	98					cell adhesion|cellular calcium ion homeostasis|glucose metabolic process	costamere|dystrophin-associated glycoprotein complex|focal adhesion|intercalated disc|internal side of plasma membrane|sarcolemma|spot adherens junction|stress fiber|Z disc	intramolecular transferase activity, phosphotransferases|magnesium ion binding|structural molecule activity			ovary(1)|pancreas(1)	2						ACAGAATGGCATCTTGTCGAC	0.478												
ANXA1	301	broad.mit.edu	37	9	75784009	75784009	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr9:75784009T>C	uc004ajf.1	+	12	997	c.923T>C	c.(922-924)ATG>ACG	p.M308T	ANXA1_uc004aje.1_Missense_Mutation_p.M308T|ANXA1_uc004ajg.1_Missense_Mutation_p.M308T	NM_000700	NP_000691	P04083	ANXA1_HUMAN	annexin I	308	Annexin 4.				alpha-beta T cell differentiation|anti-apoptosis|cell surface receptor linked signaling pathway|cellular component movement|inflammatory response|keratinocyte differentiation|lipid metabolic process|peptide cross-linking|positive regulation of vesicle fusion	basolateral plasma membrane|cilium|cornified envelope|cytoplasm|extracellular region|nucleus	calcium ion binding|calcium-dependent phospholipid binding|phospholipase A2 inhibitor activity|protein binding, bridging|receptor binding|structural molecule activity			breast(1)|central_nervous_system(1)	2		all_epithelial(88;2.54e-11)		OV - Ovarian serous cystadenocarcinoma(323;2.82e-06)|GBM - Glioblastoma multiforme(74;0.0325)	Alclometasone(DB00240)|Amcinonide(DB00288)|Beclomethasone(DB00394)|Betamethasone(DB00443)|Clobetasol(DB01013)|Clocortolone(DB00838)|Desonide(DB01260)|Desoximetasone(DB00547)|Dexamethasone(DB01234)|Diflorasone(DB00223)|Flumethasone Pivalate(DB00663)|Halobetasol Propionate(DB00596)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Loteprednol Etabonate(DB00873)|Methylprednisolone(DB00959)|Mometasone(DB00764)|Prednicarbate(DB01130)|Prednisone(DB00635)|Rimexolone(DB00896)|Triamcinolone(DB00620)	GAAATTGACATGAATGATATC	0.403												
TRPM6	140803	broad.mit.edu	37	9	77457094	77457094	+	Silent	SNP	G	G	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr9:77457094G>T	uc004ajl.1	-	4	556	c.318C>A	c.(316-318)ACC>ACA	p.T106T	TRPM6_uc004ajk.1_Silent_p.T101T|TRPM6_uc010mpb.1_RNA|TRPM6_uc010mpc.1_Silent_p.T106T|TRPM6_uc010mpd.1_Silent_p.T106T|TRPM6_uc010mpe.1_Silent_p.T106T|TRPM6_uc004ajn.1_Silent_p.T106T	NM_017662	NP_060132	Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel,	106	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						TGGCATGATGGGTGTGCTCTC	0.299												
PRUNE2	158471	broad.mit.edu	37	9	79324209	79324209	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr9:79324209T>C	uc010mpk.2	-	8	3105	c.2981A>G	c.(2980-2982)GAA>GGA	p.E994G		NM_015225	NP_056040	Q8WUY3	PRUN2_HUMAN	prune homolog 2	994					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity				0						CTCAAAACCTTCCTCTTTAGC	0.448												
PRUNE2	158471	broad.mit.edu	37	9	79325181	79325181	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr9:79325181G>A	uc010mpk.2	-	8	2133	c.2009C>T	c.(2008-2010)GCG>GTG	p.A670V		NM_015225	NP_056040	Q8WUY3	PRUN2_HUMAN	prune homolog 2	670					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity				0						GGAACTCCACGCATCTGCAAT	0.488												
SEMA4D	10507	broad.mit.edu	37	9	92006308	92006308	+	Silent	SNP	G	G	A	rs62638727	byFrequency	TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr9:92006308G>A	uc004aqo.1	-	11	1217	c.645C>T	c.(643-645)GAC>GAT	p.D215D	SEMA4D_uc011ltm.1_Silent_p.D215D|SEMA4D_uc011ltn.1_RNA|SEMA4D_uc011lto.1_RNA|SEMA4D_uc004aqp.1_Silent_p.D213D	NM_006378	NP_006369	Q92854	SEM4D_HUMAN	semaphorin 4D isoform 1	215	Sema.|Extracellular (Potential).				anti-apoptosis|axon guidance|cell adhesion|immune response	integral to membrane|plasma membrane	receptor activity|receptor binding			ovary(1)|pancreas(1)	2						TTCGGATCACGTCAGCAAACA	0.567												
NFIL3	4783	broad.mit.edu	37	9	94171822	94171822	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr9:94171822G>A	uc004arh.2	-	2	1590	c.1195C>T	c.(1195-1197)CAT>TAT	p.H399Y		NM_005384	NP_005375	Q16649	NFIL3_HUMAN	nuclear factor, interleukin 3 regulated	399					circadian rhythm|immune response|transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity				0						TCTTTTTGATGCCAGTGCTCC	0.408												
ROR2	4920	broad.mit.edu	37	9	94486449	94486449	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr9:94486449C>T	uc004arj.1	-	9	2526	c.2327G>A	c.(2326-2328)AGC>AAC	p.S776N	ROR2_uc004ari.1_Missense_Mutation_p.S636N	NM_004560	NP_004551	Q01974	ROR2_HUMAN	receptor tyrosine kinase-like orphan receptor 2	776	Ser/Thr-rich.|Cytoplasmic (Potential).				negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding			lung(8)|central_nervous_system(5)|ovary(3)|large_intestine(2)|stomach(1)|breast(1)	20						GCTCACTGGGCTGGTGCTCAG	0.652												
FAM120A	23196	broad.mit.edu	37	9	96320140	96320140	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr9:96320140G>A	uc004atw.2	+	14	2541	c.2516G>A	c.(2515-2517)CGC>CAC	p.R839H	FAM120A_uc004aty.2_Missense_Mutation_p.R620H|FAM120A_uc004atz.2_Missense_Mutation_p.R488H|FAM120A_uc010mrg.2_Missense_Mutation_p.R152H	NM_014612	NP_055427	Q9NZB2	F120A_HUMAN	oxidative stress-associated Src activator	839	RNA binding.					cytoplasm|plasma membrane	RNA binding				0						GAGAAGATGCGCCAGAGCGTC	0.577												
SEC61B	10952	broad.mit.edu	37	9	101990194	101990194	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr9:101990194T>C	uc004azh.2	+	3	191	c.115T>C	c.(115-117)TGT>CGT	p.C39R		NM_006808	NP_006799	P60468	SC61B_HUMAN	Sec61 beta subunit	39	Cytoplasmic (Potential).			C->S: Abolishes S-acylation.	ER-associated protein catabolic process|protein import into nucleus, translocation|retrograde protein transport, ER to cytosol|transmembrane transport	endoplasmic reticulum Sec complex|integral to membrane	epidermal growth factor binding				0		Acute lymphoblastic leukemia(62;0.0559)				AAATGCCAGCTGTGGGACAAG	0.448												
OR13C3	138803	broad.mit.edu	37	9	107298417	107298417	+	Silent	SNP	A	A	G			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr9:107298417A>G	uc004bcb.1	-	1	678	c.678T>C	c.(676-678)ATT>ATC	p.I226I		NM_001001961	NP_001001961	Q8NGS6	O13C3_HUMAN	olfactory receptor, family 13, subfamily C,	226	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			pancreas(1)	1						CCATGGTGATAATATTGAGGG	0.388												
TXNDC8	255220	broad.mit.edu	37	9	113091532	113091532	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr9:113091532C>T	uc004bes.2	-	3	218	c.169G>A	c.(169-171)GTG>ATG	p.V57M	TXNDC8_uc011lwl.1_Intron	NM_001003936	NP_001003936	Q6A555	TXND8_HUMAN	thioredoxin domain containing 8	57	Thioredoxin.				cell differentiation|cell redox homeostasis|glycerol ether metabolic process|multicellular organismal development|spermatogenesis	Golgi apparatus	electron carrier activity|protein disulfide oxidoreductase activity				0						TTCACATCCACATTAGCAAAA	0.299												
ZNF483	158399	broad.mit.edu	37	9	114305051	114305051	+	Silent	SNP	C	C	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr9:114305051C>T	uc004bff.2	+	6	2060	c.1836C>T	c.(1834-1836)TGC>TGT	p.C612C	ZNF483_uc004bfg.2_Intron	NM_133464	NP_597721	Q8TF39	ZN483_HUMAN	zinc finger protein 483 isoform a	612	C2H2-type 7.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			skin(1)	1						GTAATGATTGCGGAATGACTT	0.393												
SLC31A2	1318	broad.mit.edu	37	9	115925105	115925105	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr9:115925105G>A	uc004bgq.2	+	4	457	c.340G>A	c.(340-342)GTA>ATA	p.V114I		NM_001860	NP_001851	O15432	COPT2_HUMAN	solute carrier family 31 (copper transporters),	114	Helical; (Potential).					integral to plasma membrane	copper ion transmembrane transporter activity				0						CATGCTGGCCGTAATGTCCTA	0.488												
TRAF1	7185	broad.mit.edu	37	9	123675628	123675628	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr9:123675628C>T	uc004bku.1	-	5	1255	c.683G>A	c.(682-684)CGC>CAC	p.R228H	TRAF1_uc011lyg.1_Missense_Mutation_p.R106H|TRAF1_uc010mvl.1_Missense_Mutation_p.R228H	NM_005658	NP_005649	Q13077	TRAF1_HUMAN	TNF receptor-associated factor 1	228					apoptosis|positive regulation of NF-kappaB transcription factor activity|protein complex assembly|regulation of apoptosis|signal transduction	cytoplasm	protein binding|zinc ion binding			skin(2)|ovary(1)	3						GCTCAGGATGCGCTCACGGTC	0.617												
TTLL11	158135	broad.mit.edu	37	9	124752027	124752027	+	Missense_Mutation	SNP	T	T	G			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr9:124752027T>G	uc004blt.1	-	4	1174	c.986A>C	c.(985-987)GAC>GCC	p.D329A	TTLL11_uc011lyl.1_Missense_Mutation_p.D329A|TTLL11_uc004blr.2_RNA|TTLL11_uc011lym.1_Missense_Mutation_p.D6A|TTLL11_uc004blu.1_Nonstop_Mutation_p.*284C	NM_194252	NP_919228	Q8NHH1	TTL11_HUMAN	tubulin tyrosine ligase-like family, member 11	329	TTL.				protein modification process	cilium|microtubule basal body	tubulin-tyrosine ligase activity				0						CCAGGAGGGGTCATCGTCTTT	0.358												
OR1N1	138883	broad.mit.edu	37	9	125288709	125288709	+	Silent	SNP	A	A	G			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr9:125288709A>G	uc004bmn.1	-	1	864	c.864T>C	c.(862-864)TAT>TAC	p.Y288Y		NM_012363	NP_036495	Q8NGS0	OR1N1_HUMAN	olfactory receptor, family 1, subfamily N,	288	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			upper_aerodigestive_tract(1)|breast(1)|skin(1)	3						TCCTTAGGCTATAGATAAAGG	0.438												
STRBP	55342	broad.mit.edu	37	9	125932264	125932264	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr9:125932264C>T	uc004bns.2	-	6	882	c.452G>A	c.(451-453)CGG>CAG	p.R151Q	STRBP_uc004bnt.2_5'UTR|STRBP_uc004bnu.2_Missense_Mutation_p.R137Q|STRBP_uc004bnv.2_Missense_Mutation_p.R151Q	NM_018387	NP_060857	Q96SI9	STRBP_HUMAN	spermatid perinuclear RNA binding protein	151	DZF.				multicellular organismal development	cytoplasm|nucleus	DNA binding			breast(1)|skin(1)	2						TTTTGTATTCCGAATTATAAT	0.348												
PBX3	5090	broad.mit.edu	37	9	128692121	128692121	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr9:128692121C>T	uc004bqb.2	+	4	820	c.704C>T	c.(703-705)GCC>GTC	p.A235V	PBX3_uc004bqc.2_Missense_Mutation_p.A54V|PBX3_uc004bqd.2_Missense_Mutation_p.A54V|PBX3_uc011lzw.1_Missense_Mutation_p.A160V|PBX3_uc011lzx.1_Missense_Mutation_p.A146V|PBX3_uc004bqe.2_Missense_Mutation_p.A122V	NM_006195	NP_006186	P40426	PBX3_HUMAN	pre-B-cell leukemia homeobox 3 isoform 1	235	Homeobox; TALE-type.				anterior compartment pattern formation|posterior compartment specification		sequence-specific DNA binding transcription factor activity			upper_aerodigestive_tract(1)	1						TTCCTTGATGCCAGGTATGTG	0.398												
TOR2A	27433	broad.mit.edu	37	9	130496638	130496638	+	Silent	SNP	G	G	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr9:130496638G>A	uc004brs.3	-	2	412	c.357C>T	c.(355-357)CGC>CGT	p.R119R	TOR2A_uc004brt.3_Silent_p.R119R|TOR2A_uc004brw.3_Silent_p.R119R|TOR2A_uc011maj.1_Intron|TOR2A_uc004bru.3_Intron|TOR2A_uc004brv.3_Intron|TOR2A_uc004brx.1_5'UTR	NM_001085347	NP_001078816	Q5JU69	TOR2A_HUMAN	torsin family 2, member A isoform a	119					chaperone mediated protein folding requiring cofactor	endoplasmic reticulum|extracellular region	ATP binding|nucleoside-triphosphatase activity				0						AGTGGTGCACGCGGGGGCTGC	0.652											OREG0019509	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
GOLGA2	2801	broad.mit.edu	37	9	131019737	131019737	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr9:131019737C>T	uc011maw.1	-	25	2718	c.2705G>A	c.(2704-2706)AGA>AAA	p.R902K	GOLGA2_uc010mxw.2_Missense_Mutation_p.R225K|GOLGA2_uc004buh.2_Intron	NM_004486	NP_004477	Q08379	GOGA2_HUMAN	Golgi autoantigen, golgin subfamily a, 2	902						Golgi cisterna membrane	protein binding			ovary(1)	1						TGCCAGGAATCTGCCATGCCA	0.642												
SPTAN1	6709	broad.mit.edu	37	9	131339690	131339690	+	Silent	SNP	A	A	G			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr9:131339690A>G	uc004bvl.3	+	8	1103	c.990A>G	c.(988-990)ACA>ACG	p.T330T	SPTAN1_uc011mbg.1_Silent_p.T330T|SPTAN1_uc011mbh.1_Silent_p.T342T|SPTAN1_uc004bvm.3_Silent_p.T330T|SPTAN1_uc004bvn.3_Silent_p.T330T	NM_003127	NP_003118	Q13813	SPTA2_HUMAN	spectrin, alpha, non-erythrocytic 1	330	Spectrin 4.				actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton			breast(5)|ovary(4)|pancreas(1)	10						TGAGTGCAACACAGATTCAAG	0.527												
SPTAN1	6709	broad.mit.edu	37	9	131375680	131375680	+	Silent	SNP	C	C	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr9:131375680C>T	uc004bvl.3	+	39	5162	c.5049C>T	c.(5047-5049)TCC>TCT	p.S1683S	SPTAN1_uc004bvm.3_Silent_p.S1688S|SPTAN1_uc004bvn.3_Silent_p.S1663S	NM_003127	NP_003118	Q13813	SPTA2_HUMAN	spectrin, alpha, non-erythrocytic 1	1683	Spectrin 18.				actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton			breast(5)|ovary(4)|pancreas(1)	10						TGCTGGCATCCGAAGATTATG	0.483												
CRAT	1384	broad.mit.edu	37	9	131864220	131864220	+	Silent	SNP	G	G	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr9:131864220G>A	uc004bxh.2	-	6	1029	c.747C>T	c.(745-747)GGC>GGT	p.G249G	CRAT_uc004bxg.2_Silent_p.G228G|CRAT_uc004bxk.3_Silent_p.G228G	NM_000755	NP_000746	P43155	CACP_HUMAN	carnitine acetyltransferase precursor	249					energy derivation by oxidation of organic compounds|fatty acid beta-oxidation using acyl-CoA oxidase|transport	endoplasmic reticulum|mitochondrial inner membrane|peroxisomal matrix	carnitine O-acetyltransferase activity			central_nervous_system(1)	1				UCEC - Uterine corpus endometrioid carcinoma (4;0.0178)	L-Carnitine(DB00583)	AGGTGAGGATGCCCACAGGCT	0.592												
GTF3C4	9329	broad.mit.edu	37	9	135553705	135553705	+	Silent	SNP	C	C	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr9:135553705C>T	uc010mzv.2	+	2	957	c.699C>T	c.(697-699)CTC>CTT	p.L233L	GTF3C4_uc010mzw.2_RNA	NM_012204	NP_036336	Q9UKN8	TF3C4_HUMAN	general transcription factor IIIC 4	233					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)		AAGGAAATCTCGGGGATTTTG	0.517												
SLC2A6	11182	broad.mit.edu	37	9	136337261	136337261	+	Missense_Mutation	SNP	G	G	A	rs146699447		TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr9:136337261G>A	uc004cee.2	-	10	1501	c.1406C>T	c.(1405-1407)GCG>GTG	p.A469V	SLC2A6_uc004cef.2_Missense_Mutation_p.A407V|SLC2A6_uc004ceg.2_Missense_Mutation_p.A446V	NM_017585	NP_060055	Q9UGQ3	GTR6_HUMAN	solute carrier family 2 (facilitated glucose	469	Helical; Name=12; (Potential).					integral to membrane|plasma membrane	D-glucose transmembrane transporter activity				0				OV - Ovarian serous cystadenocarcinoma(145;8.47e-08)|Epithelial(140;9.37e-07)|all cancers(34;1.03e-05)		GCAGATGGCCGCGAAGAAGAA	0.642												
KIAA0649	9858	broad.mit.edu	37	9	138376423	138376423	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr9:138376423G>A	uc004cfr.1	+	4	616	c.67G>A	c.(67-69)GGG>AGG	p.G23R		NM_014811	NP_055626	Q5T8A7	K0649_HUMAN	1A6/DRIM (down-regulated in metastasis)	23						nucleolus	protein binding			ovary(2)|central_nervous_system(1)	3				OV - Ovarian serous cystadenocarcinoma(145;6.91e-08)|Epithelial(140;4.69e-07)|all cancers(34;9.33e-06)		TGGCCCGCCAGGGAGCTGTAG	0.637												
QSOX2	169714	broad.mit.edu	37	9	139100732	139100732	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr9:139100732C>T	uc010nbi.2	-	12	1977	c.1939G>A	c.(1939-1941)GGG>AGG	p.G647R		NM_181701	NP_859052	Q6ZRP7	QSOX2_HUMAN	quiescin Q6 sulfhydryl oxidase 2 precursor	647					cell redox homeostasis	extracellular region|integral to membrane|nuclear membrane|plasma membrane	thiol oxidase activity			ovary(1)	1		Myeloproliferative disorder(178;0.0511)		Epithelial(140;7.78e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.55e-07)		GGTGCGGCCCCGCCCACCTCC	0.617												
SEC16A	9919	broad.mit.edu	37	9	139368937	139368937	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr9:139368937A>G	uc004chx.2	-	3	3440	c.3131T>C	c.(3130-3132)GTC>GCC	p.V1044A	SEC16A_uc004chv.3_Missense_Mutation_p.V434A|SEC16A_uc004chw.2_Missense_Mutation_p.V1044A|SEC16A_uc010nbn.2_Missense_Mutation_p.V1044A|SEC16A_uc010nbo.1_Missense_Mutation_p.V1044A	NM_014866	NP_055681	O15027	SC16A_HUMAN	SEC16 homolog A	866					protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane					0		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		ATCTTTCGTGACCTGCTGATA	0.592												
NOTCH1	4851	broad.mit.edu	37	9	139395218	139395218	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr9:139395218G>A	uc004chz.2	-	31	5720	c.5720C>T	c.(5719-5721)CCG>CTG	p.P1907L		NM_017617	NP_060087	P46531	NOTC1_HUMAN	notch1 preproprotein	1907	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)		GATGACGGCCGGCGCGTCCTC	0.687			T|Mis|O	TRB@	T-ALL					HNSCC(8;0.001)		
NELF	26012	broad.mit.edu	37	9	140350863	140350863	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr9:140350863G>A	uc004cna.2	-	4	936	c.704C>T	c.(703-705)GCC>GTC	p.A235V	C9orf167_uc011mew.1_Intron|NELF_uc011mex.1_5'Flank|NELF_uc010nci.2_Missense_Mutation_p.A3V|NELF_uc011mey.1_RNA|NELF_uc011mez.1_Missense_Mutation_p.A235V|NELF_uc004cmz.2_Missense_Mutation_p.A235V|NELF_uc004cnc.2_Missense_Mutation_p.A235V|NELF_uc004cnb.2_Missense_Mutation_p.A235V	NM_001130969	NP_001124441	Q6X4W1	NELF_HUMAN	nasal embryonic LHRH factor isoform a	235						nucleus|plasma membrane					0	all_cancers(76;0.0926)			OV - Ovarian serous cystadenocarcinoma(145;0.000222)|Epithelial(140;0.000888)		CAAGACTCACGCTTGCATAGT	0.532												
EHMT1	79813	broad.mit.edu	37	9	140672338	140672338	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr9:140672338G>A	uc011mfc.1	+	13	2060	c.2023G>A	c.(2023-2025)GCC>ACC	p.A675T	EHMT1_uc004coa.2_Missense_Mutation_p.A675T|EHMT1_uc004cob.1_Missense_Mutation_p.A644T	NM_024757	NP_079033	Q9H9B1	EHMT1_HUMAN	euchromatic histone-lysine N-methyltransferase 1	675					DNA methylation|embryo development|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding			breast(2)|pancreas(1)	3	all_cancers(76;0.164)			OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)		CTGAAGTGCTGCCGGGCCACC	0.597												
PLCXD1	55344	broad.mit.edu	37	X	200930	200930	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chrX:200930G>A	uc004cpc.2	+	2	388	c.76G>A	c.(76-78)GCA>ACA	p.A26T	PLCXD1_uc011mgx.1_RNA	NM_018390	NP_060860	Q9NUJ7	PLCX1_HUMAN	phosphatidylinositol-specific phospholipase C, X	26					intracellular signal transduction|lipid metabolic process		phospholipase C 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)				CTGGATGTCGGCACTGTGTCC	0.642												
KAL1	3730	broad.mit.edu	37	X	8504917	8504917	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chrX:8504917G>A	uc004csf.2	-	11	1666	c.1516C>T	c.(1516-1518)CGG>TGG	p.R506W		NM_000216	NP_000207	P23352	KALM_HUMAN	Kallmann syndrome 1 protein precursor	506	Fibronectin type-III 3.				axon guidance|cell adhesion|cellular component movement	extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|serine-type endopeptidase inhibitor activity			ovary(3)|pancreas(1)	4						CTTTTTGGCCGTATTGGTTGG	0.443												
WWC3	55841	broad.mit.edu	37	X	10046875	10046875	+	Missense_Mutation	SNP	C	C	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chrX:10046875C>A	uc004csx.3	+	4	455	c.257C>A	c.(256-258)CCA>CAA	p.P86Q	WWC3_uc010nds.2_5'UTR|WWC3_uc010ndt.2_5'Flank	NM_015691	NP_056506	Q9ULE0	WWC3_HUMAN	WWC family member 3	86	Potential.									ovary(4)	4						AAGTATGACCCACACCAAATT	0.378												
ARHGAP6	395	broad.mit.edu	37	X	11682500	11682500	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chrX:11682500C>T	uc004cup.1	-	1	1322	c.449G>A	c.(448-450)CGA>CAA	p.R150Q	ARHGAP6_uc004cuo.1_RNA|ARHGAP6_uc004cur.1_Missense_Mutation_p.R150Q	NM_013427	NP_038286	O43182	RHG06_HUMAN	Rho GTPase activating protein 6 isoform 1	150					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						GGAAGCGCTTCGGCTACTGGC	0.622												
ASB9	140462	broad.mit.edu	37	X	15287932	15287932	+	Missense_Mutation	SNP	A	A	C			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chrX:15287932A>C	uc004cwl.2	-	1	312	c.65T>G	c.(64-66)ATC>AGC	p.I22S	ASB9_uc004cwk.2_Missense_Mutation_p.I22S|ASB9_uc004cwm.2_Missense_Mutation_p.I22S|ASB9_uc010ner.2_Missense_Mutation_p.I22S|ASB9_uc004cwn.2_Missense_Mutation_p.I22S	NM_001031739	NP_001026909	Q96DX5	ASB9_HUMAN	ankyrin repeat and SOCS box-containing 9 isoform	22					intracellular signal transduction						0	Hepatocellular(33;0.183)					AAGAAGCCTGATGCCAGGAAA	0.582												
SYAP1	94056	broad.mit.edu	37	X	16773179	16773179	+	Silent	SNP	G	G	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chrX:16773179G>A	uc004cxp.2	+	6	780	c.687G>A	c.(685-687)GAG>GAA	p.E229E	SYAP1_uc004cxo.2_Silent_p.E229E|SYAP1_uc011miv.1_Silent_p.E195E	NM_032796	NP_116185	Q96A49	SYAP1_HUMAN	SYAP1 protein	229										skin(1)	1	Hepatocellular(33;0.0997)					GGAAGGAGGAGAAGAGCAATG	0.517												
SCML2	10389	broad.mit.edu	37	X	18278348	18278348	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chrX:18278348G>A	uc004cyl.2	-	9	1169	c.1012C>T	c.(1012-1014)CGT>TGT	p.R338C	SCML2_uc004cyk.3_RNA|SCML2_uc010nfd.1_Missense_Mutation_p.R338C|SCML2_uc011miz.1_Missense_Mutation_p.R272C|SCML2_uc010nfc.2_Missense_Mutation_p.R74C	NM_006089	NP_006080	Q9UQR0	SCML2_HUMAN	sex comb on midleg-like 2	338					anatomical structure morphogenesis	PcG protein complex	DNA binding|sequence-specific DNA binding transcription factor activity				0	Hepatocellular(33;0.183)					AACATGCCACGGTCTCTGGTC	0.338												
PPEF1	5475	broad.mit.edu	37	X	18836177	18836177	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chrX:18836177G>A	uc004cyq.2	+	16	1896	c.1415G>A	c.(1414-1416)AGC>AAC	p.S472N	PPEF1_uc004cyp.2_Missense_Mutation_p.S444N|PPEF1_uc004cyr.2_Missense_Mutation_p.S410N|PPEF1_uc004cys.2_Missense_Mutation_p.S472N|PPEF1_uc011mja.1_Missense_Mutation_p.S407N|PPEF1_uc011mjb.1_Missense_Mutation_p.S416N	NM_006240	NP_006231	O14829	PPE1_HUMAN	protein phosphatase with EF hand calcium-binding	472					detection of stimulus involved in sensory perception|protein dephosphorylation		calcium ion binding|iron ion binding|manganese ion binding|protein binding|protein serine/threonine phosphatase activity				0	Hepatocellular(33;0.183)					ATGGAAAACAGCGCCATCAAG	0.333												
PHKA2	5256	broad.mit.edu	37	X	18949781	18949781	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chrX:18949781A>G	uc004cyv.3	-	12	1653	c.1223T>C	c.(1222-1224)ATC>ACC	p.I408T		NM_000292	NP_000283	P46019	KPB2_HUMAN	phosphorylase kinase, alpha 2 (liver)	408					glucose metabolic process|glycogen catabolic process	cytosol|phosphorylase kinase complex|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity			ovary(1)|central_nervous_system(1)	2	Hepatocellular(33;0.183)					CGAGCTGAGGATGTACAAGGA	0.527											OREG0019698	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
PHKA2	5256	broad.mit.edu	37	X	18969342	18969342	+	Missense_Mutation	SNP	G	G	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chrX:18969342G>T	uc004cyv.3	-	4	764	c.334C>A	c.(334-336)CTG>ATG	p.L112M	PHKA2_uc010nfh.1_Intron|PHKA2_uc010nfi.1_Missense_Mutation_p.L54M	NM_000292	NP_000283	P46019	KPB2_HUMAN	phosphorylase kinase, alpha 2 (liver)	112					glucose metabolic process|glycogen catabolic process	cytosol|phosphorylase kinase complex|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity			ovary(1)|central_nervous_system(1)	2	Hepatocellular(33;0.183)					TTGGCGTGCAGGCTGTCCTTG	0.602												
FAM47A	158724	broad.mit.edu	37	X	34148723	34148723	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chrX:34148723G>A	uc004ddg.2	-	1	1706	c.1673C>T	c.(1672-1674)CCG>CTG	p.P558L		NM_203408	NP_981953	Q5JRC9	FA47A_HUMAN	hypothetical protein LOC158724	558										ovary(4)|central_nervous_system(1)	5						GGGAGGCTCCGGGTGGAGACT	0.582												
FAM47C	442444	broad.mit.edu	37	X	37026602	37026602	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chrX:37026602T>C	uc004ddl.1	+	1	133	c.119T>C	c.(118-120)TTC>TCC	p.F40S		NM_001013736	NP_001013758	Q5HY64	FA47C_HUMAN	hypothetical protein LOC442444	40										ovary(3)	3						CGCCTGAGGTTCCCGCCTGTG	0.607												
KDM6A	7403	broad.mit.edu	37	X	44918711	44918711	+	Missense_Mutation	SNP	G	G	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chrX:44918711G>T	uc004dge.3	+	12	1569	c.1194G>T	c.(1192-1194)CAG>CAT	p.Q398H	KDM6A_uc010nhk.2_Missense_Mutation_p.Q398H|KDM6A_uc011mkz.1_Missense_Mutation_p.Q398H|KDM6A_uc011mla.1_Missense_Mutation_p.Q398H|KDM6A_uc011mlb.1_Missense_Mutation_p.Q398H|KDM6A_uc011mlc.1_Missense_Mutation_p.Q147H|KDM6A_uc011mld.1_Missense_Mutation_p.Q64H	NM_021140	NP_066963	O15550	KDM6A_HUMAN	ubiquitously transcribed tetratricopeptide	398					histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			kidney(24)|haematopoietic_and_lymphoid_tissue(23)|oesophagus(11)|large_intestine(7)|lung(5)|breast(4)|central_nervous_system(3)|urinary_tract(3)|endometrium(2)|pancreas(2)	84						AGTATTTACAGGTAAAATTTT	0.393			D|N|F|S		renal|oesophageal SCC|MM							
KCND1	3750	broad.mit.edu	37	X	48826374	48826374	+	Missense_Mutation	SNP	C	C	T	rs147541534		TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chrX:48826374C>T	uc004dlx.1	-	1	1878	c.305G>A	c.(304-306)CGG>CAG	p.R102Q	KCND1_uc004dlw.1_5'Flank	NM_004979	NP_004970	Q9NSA2	KCND1_HUMAN	potassium voltage-gated channel, Shal-related	102	Cytoplasmic (Potential).					voltage-gated potassium channel complex	metal ion binding|voltage-gated potassium channel activity			ovary(2)|lung(1)	3						GCAATGCAGCCGCCCCGTTCG	0.577												
MAGIX	79917	broad.mit.edu	37	X	49022484	49022484	+	Missense_Mutation	SNP	T	T	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chrX:49022484T>A	uc010nin.1	+	6	798	c.751T>A	c.(751-753)TCC>ACC	p.S251T	MAGIX_uc010nio.1_Missense_Mutation_p.S175T|MAGIX_uc004dmt.2_Missense_Mutation_p.S170T|MAGIX_uc004dmu.2_Missense_Mutation_p.S192T|MAGIX_uc004dmw.2_Missense_Mutation_p.S179T	NM_024859	NP_079135	Q9H6Y5	MAGIX_HUMAN	MAGI family member, X-linked isoform a	251											0						CAGCAGCACTTCCCTAGTTCA	0.647												
GSPT2	23708	broad.mit.edu	37	X	51488294	51488294	+	Silent	SNP	T	T	C			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chrX:51488294T>C	uc004dpl.2	+	1	1798	c.1572T>C	c.(1570-1572)GTT>GTC	p.V524V		NM_018094	NP_060564	Q8IYD1	ERF3B_HUMAN	peptide chain release factor 3	524					cell cycle|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|translational termination	cytoplasm	GTP binding|GTPase activity|protein binding			ovary(1)	1	Ovarian(276;0.236)					CGTTTGATGTTCAGATAGTGA	0.403												
ZXDA	7789	broad.mit.edu	37	X	57935575	57935575	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chrX:57935575C>T	uc004dve.2	-	1	1493	c.1280G>A	c.(1279-1281)TGC>TAC	p.C427Y		NM_007156	NP_009087	P98168	ZXDA_HUMAN	zinc finger, X-linked, duplicated A	427	C2H2-type 6.|Required for interaction with ZXDC.				positive regulation of transcription, DNA-dependent	nucleus	C2H2 zinc finger domain binding|identical protein binding|nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1						TTGCTTGCTGCAGCCAGGGAA	0.502												
SLC7A3	84889	broad.mit.edu	37	X	70148313	70148313	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chrX:70148313T>C	uc004dyn.2	-	4	858	c.700A>G	c.(700-702)ACC>GCC	p.T234A	SLC7A3_uc004dyo.2_Missense_Mutation_p.T234A	NM_032803	NP_116192	Q8WY07	CTR3_HUMAN	solute carrier family 7 (cationic amino acid	234	Helical; Name=6; (Potential).				cellular nitrogen compound metabolic process	integral to membrane|plasma membrane				ovary(1)|kidney(1)	2	Renal(35;0.156)				L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	AACCTATAGGTGTCATTGAGT	0.493												
SLC16A2	6567	broad.mit.edu	37	X	73641744	73641744	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chrX:73641744G>A	uc004ebt.2	+	1	660	c.494G>A	c.(493-495)GGC>GAC	p.G165D		NM_006517	NP_006508	P36021	MOT8_HUMAN	solute carrier family 16, member 2	91	Cytoplasmic (Potential).					integral to plasma membrane|membrane fraction	monocarboxylic acid transmembrane transporter activity|symporter activity			breast(2)|ovary(1)	3					Pyruvic acid(DB00119)	ACCGCGCGCGGCTTCCAGCCT	0.677												
SATL1	340562	broad.mit.edu	37	X	84362935	84362935	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chrX:84362935C>T	uc011mqx.1	-	1	1040	c.1040G>A	c.(1039-1041)AGC>AAC	p.S347N	SATL1_uc004een.2_Missense_Mutation_p.S347N	NM_001163541	NP_001157013	Q86VE3	SATL1_HUMAN	spermidine/spermine N1-acetyl transferase-like 1	160	Gln-rich.						N-acetyltransferase activity			breast(2)	2						ACCTGGTTGGCTTATGCTTGC	0.547												
CHM	1121	broad.mit.edu	37	X	85219036	85219036	+	Silent	SNP	G	G	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chrX:85219036G>A	uc004eet.2	-	5	366	c.336C>T	c.(334-336)GTC>GTT	p.V112V	CHM_uc011mqz.1_5'UTR	NM_000390	NP_000381	P24386	RAE1_HUMAN	choroideremia isoform a	112					intracellular protein transport|protein geranylgeranylation|response to stimulus|visual perception	Rab-protein geranylgeranyltransferase complex	GTPase activator activity|Rab geranylgeranyltransferase activity			ovary(1)	1		all_lung(315;5.41e-06)				CAGCTTCTTCGACATCTTCAT	0.398												
CSTF2	1478	broad.mit.edu	37	X	100079177	100079177	+	Silent	SNP	T	T	C			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chrX:100079177T>C	uc004egh.2	+	6	691	c.633T>C	c.(631-633)GCT>GCC	p.A211A	CSTF2_uc010nnd.2_Silent_p.A211A|CSTF2_uc004egi.2_Silent_p.A211A	NM_001325	NP_001316	P33240	CSTF2_HUMAN	cleavage stimulation factor subunit 2	211	Interactions with CSTF3 and SYMPK.|Gly/Pro-rich.				mRNA cleavage|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	cleavage body|mRNA cleavage and polyadenylation specificity factor complex	nucleotide binding|protein binding|protein binding|RNA binding			skin(1)	1						TCCATGGTGCTGGGCCTGGCT	0.478												
TCEAL6	158931	broad.mit.edu	37	X	101396012	101396012	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chrX:101396012C>T	uc004eiq.2	-	3	453	c.292G>A	c.(292-294)GAA>AAA	p.E98K		NM_001006938	NP_001006939	Q6IPX3	TCAL6_HUMAN	transcription elongation factor A (SII)-like 6	98					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				ovary(1)	1						GGGCGCTTTTCGGCGGCCCGC	0.612												
NGFRAP1	27018	broad.mit.edu	37	X	102632528	102632528	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chrX:102632528C>T	uc004eki.2	+	3	491	c.109C>T	c.(109-111)CGG>TGG	p.R37W	NGFRAP1_uc004ekh.2_Missense_Mutation_p.R27W|NGFRAP1_uc004ekj.1_Missense_Mutation_p.R37W	NM_206915	NP_996798	Q00994	BEX3_HUMAN	nerve growth factor receptor (TNFRSF16)	37					apoptosis|multicellular organismal development|nerve growth factor receptor signaling pathway	cytosol|nucleus	caspase regulator activity|metal ion binding				0						AGGAAATCGACGGGGACAGGC	0.522												
FAM199X	139231	broad.mit.edu	37	X	103434328	103434328	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chrX:103434328C>T	uc004elw.2	+	6	1202	c.1036C>T	c.(1036-1038)CGC>TGC	p.R346C	FAM199X_uc004elx.2_Missense_Mutation_p.R120C	NM_207318	NP_997201	Q6PEV8	F199X_HUMAN	hypothetical protein LOC139231	346										ovary(1)	1						GAAGGCCTTCCGCAAGAGGCA	0.483												
SLC6A14	11254	broad.mit.edu	37	X	115582794	115582794	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chrX:115582794C>T	uc004eqi.2	+	8	1222	c.1118C>T	c.(1117-1119)GCC>GTC	p.A373V		NM_007231	NP_009162	Q9UN76	S6A14_HUMAN	solute carrier family 6 (amino acid	373					cellular amino acid metabolic process|response to toxin	integral to membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			ovary(2)|pancreas(1)	3					L-Proline(DB00172)	GGACACATGGCCCATATATCT	0.328												
XPNPEP2	7512	broad.mit.edu	37	X	128879240	128879240	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chrX:128879240C>T	uc004eut.1	+	4	540	c.296C>T	c.(295-297)GCA>GTA	p.A99V	XPNPEP2_uc011mum.1_Missense_Mutation_p.A99V	NM_003399	NP_003390	O43895	XPP2_HUMAN	X-prolyl aminopeptidase 2, membrane-bound	99					cellular process|proteolysis	anchored to membrane|plasma membrane	aminopeptidase activity|metal ion binding|metalloexopeptidase activity				0						ACAGGGTCTGCAGGTGACAAT	0.507												
UTP14A	10813	broad.mit.edu	37	X	129060265	129060265	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chrX:129060265C>T	uc004euz.2	+	14	2021	c.1993C>T	c.(1993-1995)CCA>TCA	p.P665S	UTP14A_uc011mup.1_Missense_Mutation_p.P613S|UTP14A_uc011muq.1_Missense_Mutation_p.P611S	NM_006649	NP_006640	Q9BVJ6	UT14A_HUMAN	UTP14, U3 small nucleolar ribonucleoprotein,	665					rRNA processing	nucleolus|small-subunit processome	protein binding			ovary(2)	2						TAAGAATTTGCCAAATGTGAT	0.458											OREG0019920	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
FHL1	2273	broad.mit.edu	37	X	135290661	135290661	+	Silent	SNP	C	C	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chrX:135290661C>T	uc004ezo.2	+	5	649	c.549C>T	c.(547-549)GCC>GCT	p.A183A	FHL1_uc010nrz.2_Silent_p.A183A|FHL1_uc004ezm.2_RNA|FHL1_uc004ezl.2_Silent_p.A183A|FHL1_uc004ezq.2_Intron|FHL1_uc011mvy.1_Silent_p.A183A|FHL1_uc011mvz.1_Silent_p.A183A|FHL1_uc004ezn.2_Silent_p.A183A|FHL1_uc011mwa.1_Silent_p.A212A|FHL1_uc011mwb.1_RNA|FHL1_uc004ezp.2_Silent_p.A199A|FHL1_uc004ezr.2_Missense_Mutation_p.P2L	NM_001159702	NP_001153174	Q13642	FHL1_HUMAN	four and a half LIM domains 1 isoform 1	183	LIM zinc-binding 3.				cell differentiation|cell growth|muscle organ development|organ morphogenesis	cytosol|nucleus|plasma membrane	protein binding|zinc ion binding				0	Acute lymphoblastic leukemia(192;0.000127)					CCTGGCATGCCGATTGCTTTG	0.478												
VGLL1	51442	broad.mit.edu	37	X	135631137	135631137	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chrX:135631137C>T	uc004ezy.2	+	3	774	c.604C>T	c.(604-606)CTC>TTC	p.L202F	MIR934_hsa-mir-934|MI0005756_5'Flank	NM_016267	NP_057351	Q99990	VGLL1_HUMAN	vestigial like 1	202					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	transcription coactivator activity				0	Acute lymphoblastic leukemia(192;0.000127)					CACAGGGTTGCTCTTCAACCT	0.552												
F9	2158	broad.mit.edu	37	X	138630579	138630579	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chrX:138630579A>G	uc004fas.1	+	5	478	c.449A>G	c.(448-450)GAT>GGT	p.D150G	F9_uc004fat.1_Missense_Mutation_p.D112G	NM_000133	NP_000124	P00740	FA9_HUMAN	coagulation factor IX preproprotein	150	EGF-like 2.				blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|extracellular region|Golgi lumen|plasma membrane	calcium ion binding|serine-type endopeptidase activity			lung(2)|ovary(1)	3	Acute lymphoblastic leukemia(192;0.000127)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Heparin(DB01109)|Menadione(DB00170)	AATAGTGCTGATAACAAGGTG	0.368												
HCFC1	3054	broad.mit.edu	37	X	153220897	153220897	+	Missense_Mutation	SNP	G	G	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chrX:153220897G>T	uc004fjp.2	-	17	3481	c.2953C>A	c.(2953-2955)CCG>ACG	p.P985T		NM_005334	NP_005325	P51610	HCFC1_HUMAN	host cell factor 1	985					cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter	mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex	chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			ovary(2)	2	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TCTGTAGTCGGGGAGGCCAGA	0.637												
THADA	63892	broad.mit.edu	37	2	43799004	43799004	+	Splice_Site	DEL	A	A	-			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr2:43799003_43799003TA>T	uc002rsw.4	-	13	2261	c.1909_splice	c.e13-1	p.V637_splice	THADA_uc010far.3_5'Flank|THADA_uc002rsx.4_Splice_Site_p.V637_splice|THADA_uc002rsy.4_Splice_Site|THADA_uc010fas.1_Splice_Site|THADA_uc002rsz.3_Splice_Site_p.V347_splice|THADA_uc010fat.1_5'Flank|THADA_uc002rta.2_Splice_Site_p.V347_splice|THADA_uc002rtb.1_Splice_Site_p.V637_splice|THADA_uc002rtc.4_Splice_Site_p.V637_splice|THADA_uc002rtd.3_Splice_Site_p.V637_splice	NM_001083953	NP_071348	Q6YHU6	THADA_HUMAN	Homo sapiens thyroid adenoma associated (THADA), transcript variant 3, mRNA.	637							binding			breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)				TATCCTTACCTAAAAAACATC	0.318												
PREPL	9581	broad.mit.edu	37	2	44550553	44550553	+	Splice_Site	DEL	A	A	-			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr2:44550552_44550552TA>T	uc002ruf.3	-	11	2706	c.1747_splice	c.e11-1	p.A583_splice	PREPL_uc002rug.3_Splice_Site_p.A517_splice|PREPL_uc002ruh.3_Splice_Site_p.A521_splice|PREPL_uc010fax.3_Splice_Site_p.A583_splice|PREPL_uc002rui.4_Splice_Site_p.A494_splice|PREPL_uc002ruj.2_Splice_Site_p.A494_splice|PREPL_uc002ruk.2_Splice_Site_p.A583_splice	NM_006036	NP_006027	Q4J6C6	PPCEL_HUMAN	Homo sapiens prolyl endopeptidase-like (PREPL), transcript variant 1, mRNA.	583					proteolysis	cytosol	serine-type endopeptidase activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(19)|ovary(1)|prostate(1)|skin(2)	33		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				GAAAGGTGCCTAAAAAAAAGG	0.333												
USP34	9736	broad.mit.edu	37	2	61577527	61577527	+	Splice_Site	DEL	A	A	-			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr2:61577526_61577526TA>T	uc002sbe.3	-	12	1400	c.1378_splice	c.e12-1	p.T460_splice		NM_014709	NP_055524	Q70CQ2	UBP34_HUMAN	Homo sapiens ubiquitin specific peptidase 34 (USP34), mRNA.	460					Wnt receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			GTACAGTGTCTAAAAAAAAGA	0.338												
DYNC1I2	1781	broad.mit.edu	37	2	172563057	172563058	+	Splice_Site	INS	-	-	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr2:172563056_172563057G>GT	uc002uha.1	+	4	392	c.227_splice	c.e4-1	p.V76_splice	DYNC1I2_uc002uhb.1_Intron|DYNC1I2_uc010zds.1_Intron|DYNC1I2_uc002uhc.3_Intron|DYNC1I2_uc002uhd.1_Intron|DYNC1I2_uc002uhe.1_Splice_Site_p.V76_splice|DYNC1I2_uc002uhf.1_Intron|DYNC1I2_uc010zdt.1_Intron|DYNC1I2_uc002uhg.1_5'Flank	NM_001378	NP_001369	Q13409	DC1I2_HUMAN	Homo sapiens dynein, cytoplasmic 1, intermediate chain 2 (DYNC1I2), mRNA.	76					G2/M transition of mitotic cell cycle|interspecies interaction between organisms|microtubule-based movement|transport	centrosome|cytosol|dynein complex|microtubule|vesicle	microtubule motor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(2)|ovary(1)	15			OV - Ovarian serous cystadenocarcinoma(117;0.198)			GTACACTTCAGTTTTTTCTGAA	0.332												
FASTKD3	79072	broad.mit.edu	37	5	7863113	7863113	+	Splice_Site	DEL	A	A	-			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr5:7863112_7863112TA>T	uc003jeb.3	-	4	1697	c.1525_splice	c.e4-1	p.G509_splice	FASTKD3_uc011cmp.2_Splice_Site_p.G211_splice|FASTKD3_uc003jec.3_Splice_Site	NM_024091	NP_076996	Q14CZ7	FAKD3_HUMAN	Homo sapiens FAST kinase domains 3 (FASTKD3), transcript variant 1, mRNA.	509					apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						TTTTGGACCCTAAAAAATCAT	0.343												
RICTOR	253260	broad.mit.edu	37	5	38946657	38946658	+	Splice_Site	INS	-	-	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr5:38946656_38946657T>TA	uc003jlo.2	-	34	4409	c.4387_splice	c.e34-1	p.V1463_splice	RICTOR_uc003jlp.2_Splice_Site_p.V1439_splice|RICTOR_uc010ivf.2_Splice_Site_p.V1154_splice	NM_152756	NP_689969	Q6R327	RICTR_HUMAN	Homo sapiens RPTOR independent companion of MTOR, complex 2 (RICTOR), mRNA.	1439					T cell costimulation|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	TORC2 complex|cytosol	protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|prostate(3)|skin(5)	75	all_lung(31;0.000396)					ATCCTTTACCTAAAAAAAGATA	0.322												
HLA-G	3135	broad.mit.edu	37	6	29797196	29797197	+	Splice_Site	INS	-	-	C			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr6:29797195_29797196A>AC	uc003nnw.2	+	5	798	c.620_splice	c.e5-1	p.D207_splice	HLA-G_uc021ytw.1_Intron|HLA-G_uc011dmb.2_Splice_Site_p.D179_splice|HLA-G_uc003raj.3_Splice_Site_p.D212_splice|HLA-G_uc003nnz.3_Splice_Site_p.N115_splice|HLA-G_uc010jrn.2_Intron|HLA-G_uc003nny.3_Splice_Site|HLA-G_uc021ytv.1_Intron|HLA-G_uc003ran.1_5'Flank	NM_002127	NP_002118	P17693	HLAG_HUMAN	Homo sapiens major histocompatibility complex, class I, G (HLA-G), mRNA.	207	Alpha-3.				antigen processing and presentation of peptide antigen via MHC class I|cellular defense response|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway	MHC class I protein complex|integral to membrane	MHC class I receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(4)|ovary(3)|pancreas(1)|prostate(5)|skin(1)	21						TTCCTTTCAGACCCCCCCAAGA	0.540												
PHF1	5252	broad.mit.edu	37	6	33380026	33380026	+	Splice_Site	DEL	C	C	-			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr6:33380025_33380025GC>G	uc003oeh.3	+	2	221	c.-15_splice	c.e2-1		PHF1_uc011drh.2_Splice_Site|PHF1_uc003oei.3_Splice_Site|PHF1_uc010jux.3_Splice_Site	NM_024165	NP_077084	O43189	PHF1_HUMAN	Homo sapiens PHD finger protein 1 (PHF1), transcript variant 2, mRNA.						chromatin modification	nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19		Ovarian(999;0.0443)				TTCTGGCTAGGCCCCCCCAGG	0.537												
FAM3C	10447	broad.mit.edu	37	7	121023067	121023067	+	Splice_Site	DEL	A	A	-			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr7:121023066_121023066TA>T	uc003vjx.3	-	2	208	c.-40_splice	c.e2-1		FAM3C_uc010lkm.3_Splice_Site	NM_014888	NP_055703	Q92520	FAM3C_HUMAN	Homo sapiens family with sequence similarity 3, member C (FAM3C), transcript variant 1, mRNA.						multicellular organismal development	cytoplasmic membrane-bounded vesicle|extracellular region	cytokine activity			kidney(1)|lung(8)	9	all_neural(327;0.117)					AATATGCTCCTAAAAAATCAA	0.299												
SCAMP2	10066	broad.mit.edu	37	15	75146364	75146364	+	Splice_Site	DEL	G	G	-			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr15:75146363_75146363TG>T	uc002azb.1	-	3	299	c.225_splice	c.e3+1	p.Q75_splice	SCAMP2_uc002aza.1_Splice_Site	NM_005697	NP_005688	O15127	SCAM2_HUMAN	Homo sapiens secretory carrier membrane protein 2 (SCAMP2), mRNA.	75					post-Golgi vesicle-mediated transport|protein transport	integral to membrane|nucleus|recycling endosome membrane|trans-Golgi network membrane	protein binding			kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	9						CAGCACTACCTGGGGGGTCGG	0.572												
PIAS2	9063	broad.mit.edu	37	18	44409833	44409833	+	Splice_Site	DEL	A	A	-			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr18:44409832_44409832TA>T	uc002lck.3	-	10	1390	c.1203_splice	c.e10-1	p.G401_splice	PIAS2_uc010dnp.3_Splice_Site_p.G99_splice|PIAS2_uc010xda.2_Splice_Site_p.G99_splice|PIAS2_uc002lcl.3_Splice_Site_p.G401_splice|PIAS2_uc002lcm.3_Splice_Site_p.G401_splice	NM_004671	NP_004662	O75928	PIAS2_HUMAN	Homo sapiens protein inhibitor of activated STAT, 2 (PIAS2), transcript variant beta, mRNA.	401					androgen receptor signaling pathway|negative regulation of androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	PML body|nuclear speck	DNA binding|SUMO ligase activity|androgen receptor binding|protein binding|transcription coactivator activity|zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	22						ATAAAAAGCCTAAAAAACAAT	0.333												
TLE2	7089	broad.mit.edu	37	19	3028804	3028805	+	Splice_Site	INS	-	-	G			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr19:3028803_3028804T>TG	uc010dth.3	-	2	288	c.25_splice	c.e2-1	p.T9_splice	TLE2_uc002lww.3_Splice_Site_p.T9_splice|TLE2_uc010xhc.2_Splice_Site|TLE2_uc010dti.3_Splice_Site_p.T22_splice|TLE2_uc010xhd.1_Splice_Site_p.T9_splice	NM_003260	NP_003251	Q04725	TLE2_HUMAN	Homo sapiens transducin-like enhancer of split 2 (E(sp1) homolog, Drosophila) (TLE2), transcript variant 1, mRNA.	9	Gln-rich.				Wnt receptor signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|organ morphogenesis|transcription, DNA-dependent	nucleus	protein binding|transcription corepressor activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(1)	13				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)		GAGCGGGGTCTGGGGGGGGTGT	0.624												
ZNF43	7594	broad.mit.edu	37	19	22002026	22002026	+	Splice_Site	DEL	A	A	-			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr19:22002025_22002025TA>T	uc002nqj.3	-	2	134	c.4_splice	c.e2-1	p.G2_splice	ZNF43_uc002nql.3_Splice_Site|ZNF43_uc002nqm.3_Splice_Site|ZNF43_uc010ecv.3_Splice_Site|ZNF43_uc002nqk.3_Intron	NM_003423	NP_003414	P17038	ZNF43_HUMAN	Homo sapiens zinc finger protein 43 (ZNF43), mRNA.	2					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	51		Renal(1328;0.000219)|Hepatocellular(1079;0.121)		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)		CAATGGTCCCTAAAAAAAACA	0.383												
SUPT5H	6829	broad.mit.edu	37	19	39961164	39961165	+	Splice_Site	INS	-	-	GT			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr19:39961163_39961164G>GGT	uc002olo.4	+	18	1856	c.1677_splice	c.e18+1	p.Q559_splice	SUPT5H_uc002olp.4_Splice_Site_p.Q559_splice|SUPT5H_uc002olq.4_Splice_Site_p.Q555_splice|SUPT5H_uc002oln.4_Splice_Site_p.Q559_splice|SUPT5H_uc002olr.4_Splice_Site_p.Q559_splice|SUPT5H_uc002ols.1_Splice_Site_p.Q182_splice|SUPT5H_uc010egp.1_5'Flank	NM_001111020	NP_003160	O00267	SPT5H_HUMAN	Homo sapiens suppressor of Ty 5 homolog (S. cerevisiae) (SUPT5H), transcript variant 2, mRNA.	559					cell cycle|chromatin remodeling|mRNA capping|negative regulation of transcription elongation, DNA-dependent|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription elongation from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|response to organic substance|retroviral genome replication|transcription elongation from RNA polymerase II promoter	nucleoplasm	enzyme binding|protein heterodimerization activity			breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(13)|lung(12)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	51	all_cancers(60;6.69e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;1.57e-06)|Ovarian(47;0.159)		Epithelial(26;3.9e-26)|all cancers(26;1.35e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			AGACCTTCCAGGTGTGTGTGTT	0.614												
SMPX	23676	broad.mit.edu	37	X	21772423	21772424	+	Splice_Site	INS	-	-	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chrX:21772422_21772423T>TA	uc004daa.3	-	2	220	c.-11_splice	c.e2-1		SMPX_uc022btv.1_Splice_Site	NM_014332	NP_055147	Q9UHP9	SMPX_HUMAN	Homo sapiens small muscle protein, X-linked (SMPX), transcript variant 1, mRNA.						striated muscle contraction					breast(1)|endometrium(1)	2						GTCTTATCCCTAAAAAAACAAG	0.411												
VASH1	22846	broad.mit.edu	37	14	77229171	77229171	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr14:77229171delG	uc001xst.2	+	1	937	c.7delG	c.(7-9)GGGfs	p.G3fs	VASH1_uc001xss.2_Frame_Shift_Del_p.G3fs	NM_014909	NP_055724	Q7L8A9	VASH1_HUMAN	vasohibin 1	3					cell cycle arrest|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|negative regulation of endothelial cell proliferation	endoplasmic reticulum|extracellular space					0			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0283)		AGGGATGCCAGGGGGGAAGAA	0.647												
SOLH	6650	broad.mit.edu	37	16	597450	597450	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr16:597450delC	uc002chi.2	+	4	975	c.612delC	c.(610-612)CTCfs	p.L204fs	SOLH_uc002chh.1_Frame_Shift_Del_p.L204fs	NM_005632	NP_005623	O75808	CAN15_HUMAN	small optic lobes	204					proteolysis	intracellular	calcium-dependent cysteine-type endopeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|breast(1)	2		Hepatocellular(780;0.00335)				CACCTGGCCTCCCCGGGGAAG	0.741												
H1FX	8971	broad.mit.edu	37	3	129034633	129034635	+	In_Frame_Del	DEL	TTC	TTC	-			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr3:129034633_129034635delTTC	uc003elx.2	-	1	486_488	c.111_113delGAA	c.(109-114)AAGAAT>AAT	p.K37del	C3orf47_uc011bkv.1_5'Flank	NM_006026	NP_006017	Q92522	H1X_HUMAN	H1 histone family, member X	37					nucleosome assembly	nucleosome|nucleus	DNA binding				0						CTTCTTGCTATTCTTCCTCTTCT	0.621												
ZC4H2	55906	broad.mit.edu	37	X	64139033	64139033	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chrX:64139033delG	uc004dvu.2	-	4	538	c.450delC	c.(448-450)CCCfs	p.P150fs	ZC4H2_uc004dvv.2_Frame_Shift_Del_p.P127fs|ZC4H2_uc011mov.1_Frame_Shift_Del_p.P127fs|ZC4H2_uc011mow.1_Intron|ZC4H2_uc004dvw.1_3'UTR	NM_018684	NP_061154	Q9NQZ6	ZC4H2_HUMAN	zinc finger, C4H2 domain containing	150							metal ion binding|protein binding			ovary(1)	1						ACTCAGGGATGGGGGGCTCCT	0.572												
BRWD3	254065	broad.mit.edu	37	X	79942445	79942446	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chrX:79942445_79942446insT	uc004edt.2	-	35	4184_4185	c.3921_3922insA	c.(3919-3924)AAACAAfs	p.K1307fs	BRWD3_uc010nmi.1_RNA|BRWD3_uc004edo.2_Frame_Shift_Ins_p.K903fs|BRWD3_uc004edp.2_Frame_Shift_Ins_p.K1136fs|BRWD3_uc004edq.2_Frame_Shift_Ins_p.K903fs|BRWD3_uc010nmj.1_Frame_Shift_Ins_p.K903fs|BRWD3_uc004edr.2_Frame_Shift_Ins_p.K977fs|BRWD3_uc004eds.2_Frame_Shift_Ins_p.K903fs|BRWD3_uc004edu.2_Frame_Shift_Ins_p.K977fs|BRWD3_uc004edv.2_Frame_Shift_Ins_p.K903fs|BRWD3_uc004edw.2_Frame_Shift_Ins_p.K903fs|BRWD3_uc004edx.2_Frame_Shift_Ins_p.K903fs|BRWD3_uc004edy.2_Frame_Shift_Ins_p.K903fs|BRWD3_uc004edz.2_Frame_Shift_Ins_p.K977fs|BRWD3_uc004eea.2_Frame_Shift_Ins_p.K977fs|BRWD3_uc004eeb.2_Frame_Shift_Ins_p.K903fs	NM_153252	NP_694984	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	1307_1308										ovary(4)	4						TCCTTGCATTGTTTTTTCCAAG	0.386												
GPRASP2	114928	broad.mit.edu	37	X	101972170	101972170	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chrX:101972170delA	uc004ejk.2	+	4	3707	c.2373delA	c.(2371-2373)ATAfs	p.I791fs	GPRASP2_uc004ejl.2_Frame_Shift_Del_p.I791fs|GPRASP2_uc004ejm.2_Frame_Shift_Del_p.I791fs|GPRASP2_uc011mrp.1_Frame_Shift_Del_p.I130fs	NM_138437	NP_612446	Q96D09	GASP2_HUMAN	G protein-coupled receptor associated sorting	791						cytoplasm	protein binding			ovary(1)	1						GTAACATTATAAAAAGTGGAA	0.323												
ARID1A	8289	broad.mit.edu	37	1	27105931	27105931	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr1:27105930_27105930TG>T	uc001bmv.1	+	19	5914	c.5541_5541TG>T	c.(5539-5541)ggtfs	p.G1847fs	ARID1A_uc001bmu.1_Frame_Shift_Del_p.G1630fs|ARID1A_uc001bmx.1_Frame_Shift_Del_p.G693fs|ARID1A_uc009vsm.1_Frame_Shift_Del_p.G175fs|ARID1A_uc009vsn.1_Frame_Shift_Del_p.G89fs	NM_006015	NP_006006	O14497	ARI1A_HUMAN	Homo sapiens AT rich interactive domain 1A (SWI-like) (ARID1A), transcript variant 1, mRNA.	1847					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	SWI/SNF complex|nBAF complex|npBAF complex	DNA binding|protein binding	p.G1848fs*6(3)|p.G1847fs*36(1)	ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		GGCGGATTGGTGGGGGGGACA	0.582			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""							
AHDC1	27245	broad.mit.edu	37	1	27873977	27873977	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr1:27873976_27873976CG>C	uc021ojw.1	-	0	4651	c.4651_4651CG>G	c.(4651-4653)gtgfs	p.V1551fs	AHDC1_uc009vsy.3_Frame_Shift_Del_p.V1551fs|AHDC1_uc009vsz.1_Frame_Shift_Del_p.V1551fs	NM_001029882	NP_001025053	Q5TGY3	AHDC1_HUMAN	Homo sapiens AT hook, DNA binding motif, containing 1 (AHDC1), mRNA.	1551							DNA binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)		TCCCTCGGCACGGGGGACAGG	0.701												
YTHDF2	51441	broad.mit.edu	37	1	29069581	29069581	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr1:29069580_29069580AC>A	uc021okf.1	+	4	1061	c.798_798AC>A	c.(796-798)ccafs	p.P266fs	YTHDF2_uc001brc.3_Frame_Shift_Del_p.P266fs|YTHDF2_uc010ofx.2_Frame_Shift_Del_p.P216fs|YTHDF2_uc001bre.3_Frame_Shift_Del_p.P216fs	NM_001173128	NP_001166299	Q9Y5A9	YTHD2_HUMAN	Homo sapiens YTH domain family, member 2 (YTHDF2), transcript variant 2, mRNA.	266					humoral immune response					NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Colorectal(325;3.46e-05)|Lung NSC(340;0.000601)|all_lung(284;0.000771)|Breast(348;0.00502)|Renal(390;0.00758)|all_neural(195;0.0227)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;5.46e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0221)|KIRC - Kidney renal clear cell carcinoma(1967;0.0296)|READ - Rectum adenocarcinoma(331;0.0649)		GTCTTCCGCCACCCCCGATAA	0.483												
ZMYM4	9202	broad.mit.edu	37	1	35836080	35836081	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr1:35836079_35836080T>TA	uc001byt.3	+	6	1112_1113	c.1032_1033T>TA	c.(1030-1035)tgtaaafs	p.C344fs	ZMYM4_uc009vuu.3_Frame_Shift_Ins_p.C312fs|ZMYM4_uc001byu.3_Frame_Shift_Ins_p.C20fs|ZMYM4_uc009vuv.3_Frame_Shift_Ins_p.C83fs|AF119915_uc001byv.2_5'Flank	NM_005095	NP_005086	Q5VZL5	ZMYM4_HUMAN	Homo sapiens zinc finger, MYM-type 4 (ZMYM4), mRNA.	344					multicellular organismal development		DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(16)|ovary(2)|prostate(3)|skin(2)	54		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				GTTCTGGTTGTAAAAAAATCCT	0.480												
STK40	83931	broad.mit.edu	37	1	36823959	36823960	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr1:36823958_36823959T>TC	uc001cak.1	-	4	630_631	c.223_224A>GA	c.(223-225)gacfs	p.D75fs	STK40_uc001cal.1_Frame_Shift_Ins_p.D80fs|STK40_uc001cam.1_Frame_Shift_Ins_p.D75fs|STK40_uc001can.1_Frame_Shift_Ins_p.D75fs	NM_032017	NP_114406	Q8N2I9	STK40_HUMAN	Homo sapiens serine/threonine kinase 40 (STK40), mRNA.	75	Protein kinase.					cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)|stomach(1)	13		Myeloproliferative disorder(586;0.0393)				TATGCCTTGGTCCCCCCTCTCC	0.540												
CCDC30	728621	broad.mit.edu	37	1	43002166	43002166	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr1:43002165_43002165GA>G	uc009vwk.1	+	1	120	c.10_10GA>G	c.(10-12)gaafs	p.E4fs	CCDC30_uc001chm.2_5'UTR|CCDC30_uc001chn.2_Intron|CCDC30_uc010oju.1_Non-coding_Transcript|CCDC30_uc001chp.3_Frame_Shift_Del_p.E4fs	NM_001080850	NP_001074319	Q5VVM6	CCD30_HUMAN	Homo sapiens coiled-coil domain containing 30 (CCDC30), mRNA.	4										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	30						AATGAGCCAAGAAAAAAATGA	0.333												
CYP4Z1	199974	broad.mit.edu	37	1	47534426	47534426	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr1:47534425_47534425GA>G	uc001cqu.1	+	1	312	c.309_309GA>G	c.(307-309)ctgfs	p.L103fs		NM_178134	NP_835235	Q86W10	CP4Z1_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily Z, polypeptide 1 (CYP4Z1), mRNA.	103						endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding			cervix(1)|large_intestine(4)|lung(4)|skin(1)|stomach(1)	11						AGATTCTCCTGAAAAGACAAG	0.478												
PRKAA2	5563	broad.mit.edu	37	1	57169933	57169933	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr1:57169932_57169932TC>T	uc001cyk.4	+	6	1148	c.1077_1077TC>T	c.(1075-1077)attfs	p.I359fs		NM_006252	NP_006243	P54646	AAPK2_HUMAN	Homo sapiens protein kinase, AMP-activated, alpha 2 catalytic subunit (PRKAA2), mRNA.	359					carnitine shuttle|cell cycle arrest|cholesterol biosynthetic process|energy reserve metabolic process|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleoplasm	ATP binding|metal ion binding			breast(6)|endometrium(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|stomach(1)	23						CCATGCATATTCCCCCAGGCC	0.468												
GNG12	55970	broad.mit.edu	37	1	68171151	68171151	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr1:68171150_68171150GT>G	uc001dea.2	-	3	408	c.203_203AC>C	c.(202-204)actfs	p.T68fs		NM_018841	NP_061329	Q9UBI6	GBG12_HUMAN	Homo sapiens guanine nucleotide binding protein (G protein), gamma 12 (GNG12), mRNA.	68					G-protein coupled receptor protein signaling pathway|cellular response to glucagon stimulus|energy reserve metabolic process|synaptic transmission	heterotrimeric G-protein complex	signal transducer activity			lung(3)	3						GATGATGCAAGTTTTTTTATC	0.433												
GPSM2	29899	broad.mit.edu	37	1	109440679	109440681	+	In_Frame_Del	DEL	AGA	AGA	-	rs145997327	by1000genomes	TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr1:109440678_109440680CAGA>C	uc010ovc.2	+	4	1008_1010	c.512_514CAGA>C	c.(511-516)ccagaa>cCaa	p.E173del	AKNAD1_uc010ovb.2_Intron|GPSM2_uc010ovd.2_In_Frame_Del_p.E173del|GPSM2_uc010ove.1_In_Frame_Del_p.E173del	NM_013296	NP_037428	P81274	GPSM2_HUMAN	Homo sapiens G-protein signaling modulator 2 (GPSM2), mRNA.	173					G-protein coupled receptor protein signaling pathway	cell cortex|nucleus	GTPase activator activity|identical protein binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(3)	14		all_epithelial(167;7.64e-05)|all_lung(203;0.000321)|Lung NSC(277;0.000626)		Colorectal(144;0.0353)|Lung(183;0.0984)|COAD - Colon adenocarcinoma(174;0.129)|Epithelial(280;0.175)|all cancers(265;0.209)		GGAGAATTTCCAGAAGAAGTGAG	0.493												
TTF2	8458	broad.mit.edu	37	1	117637937	117637938	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr1:117637936_117637937ATC>A	uc001egy.3	+	18	3002_3003	c.2982_2983ATC>A	c.(2980-2985)tcatctfs	p.S994fs		NM_003594	NP_003585	Q9UNY4	TTF2_HUMAN	Homo sapiens transcription termination factor, RNA polymerase II (TTF2), mRNA.	994					RNA splicing|mRNA processing|regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription	cytoplasm|spliceosomal complex|transcription elongation factor complex	ATP binding|ATP-dependent helicase activity|DNA binding|DNA-dependent ATPase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(24)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	50	Lung SC(450;0.225)	all_cancers(81;4.23e-06)|all_epithelial(167;3.65e-07)|all_lung(203;2.81e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0553)|Colorectal(144;0.179)|LUSC - Lung squamous cell carcinoma(189;0.19)		CCCAGATTTCATCTCTGTTGGC	0.416												
PIAS3	10401	broad.mit.edu	37	1	145578385	145578385	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr1:145578384_145578384AC>A	uc001eoc.1	+	1	438	c.347_347AC>A	c.(346-348)cacfs	p.H116fs	PIAS3_uc010oyy.1_Frame_Shift_Del_p.H107fs|PIAS3_uc001eod.1_5'Flank	NM_006099	NP_006090	Q9Y6X2	PIAS3_HUMAN	Homo sapiens protein inhibitor of activated STAT, 3 (PIAS3), mRNA.	116	PINIT.|Pro-rich.				positive regulation of protein sumoylation|protein sumoylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck	enzyme binding|nucleic acid binding|protein C-terminus binding|zinc ion binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)	28	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GTGGACATGCACCCCCCTCTG	0.627												
PRKAB2	5565	broad.mit.edu	37	1	146634134	146634134	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr1:146634133_146634133TG>T	uc001epe.3	-	5	703	c.558_558CA>A	c.(556-558)ccafs	p.P186fs	PRKAB2_uc010ozm.2_Frame_Shift_Del_p.P104fs|PRKAB2_uc010ozn.2_Frame_Shift_Del_p.Q64fs|PRKAB2_uc009wjf.1_Frame_Shift_Del_p.P186fs	NM_005399	NP_005390	O43741	AAKB2_HUMAN	Homo sapiens protein kinase, AMP-activated, beta 2 non-catalytic subunit (PRKAB2), mRNA.	186					carnitine shuttle|cell cycle arrest|energy reserve metabolic process|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleoplasm				NS(1)|endometrium(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	11	all_hematologic(923;0.0487)				Adenosine monophosphate(DB00131)	CATAAGGCCCTGGGGGTGAGC	0.403												
FLG2	388698	broad.mit.edu	37	1	152324350	152324351	+	Frame_Shift_Ins	INS	-	-	TG			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr1:152324349_152324350A>ATG	uc001ezw.4	-	2	5985_5986	c.5912_5913T>CAT	c.(5911-5913)catfs	p.H1971fs	AK056431_uc001ezv.3_Intron	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	Homo sapiens filaggrin family member 2 (FLG2), mRNA.	1971							calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGTGTCCTGAATGTGTGTGTGA	0.520												
SLC39A1	27173	broad.mit.edu	37	1	153934781	153934781	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr1:153934780_153934780GC>G	uc001fdl.3	-	3	700	c.234_234GC>C	c.(232-234)ggcfs	p.G78fs	SLC39A1_uc001fdi.3_Frame_Shift_Del_p.G78fs|SLC39A1_uc001fdj.3_Frame_Shift_Del_p.G78fs|SLC39A1_uc001fdk.3_Frame_Shift_Del_p.G78fs|SLC39A1_uc010pee.2_Intron	NM_014437	NP_055252	Q9NY26	S39A1_HUMAN	Homo sapiens solute carrier family 39 (zinc transporter), member 1 (SLC39A1), mRNA.	78						endoplasmic reticulum membrane|integral to membrane|membrane fraction|plasma membrane	zinc ion transmembrane transporter activity			kidney(2)|large_intestine(2)|lung(7)|urinary_tract(1)	12	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)	Colorectal(1306;0.019)		CCAAAAAGACGCCCCCCGCGA	0.612												
FDPS	2224	broad.mit.edu	37	1	155288502	155288502	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr1:155288501_155288501GC>G	uc001fkc.2	+	6	949	c.730_730GC>G	c.(730-732)gccfs	p.A244fs	FDPS_uc021paw.1_Frame_Shift_Del_p.A178fs|FDPS_uc001fkd.2_Frame_Shift_Del_p.A178fs|FDPS_uc021pax.1_Frame_Shift_Del_p.A73fs|FDPS_uc001fke.2_Frame_Shift_Del_p.A244fs|RUSC1-AS1_uc001fkh.1_Intron|RUSC1_uc001fkk.2_5'Flank|RUSC1_uc001fkj.2_5'Flank	NM_002004	NP_001229754	P14324	FPPS_HUMAN	Homo sapiens farnesyl diphosphate synthase (FDPS), transcript variant 1, mRNA.	244					cholesterol biosynthetic process|interspecies interaction between organisms|isoprenoid biosynthetic process	cytosol|nucleus	dimethylallyltranstransferase activity|geranyltranstransferase activity|metal ion binding			cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	10	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;2.03e-10)|all cancers(21;5.23e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)		Alendronate(DB00630)|Ibandronate(DB00710)|Pamidronate(DB00282)|Risedronate(DB00884)|Zoledronate(DB00399)	CCTCCTCACAGCCCCCCAGGG	0.562												
MRPL24	79590	broad.mit.edu	37	1	156708387	156708387	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr1:156708386_156708386TG>T	uc001fpw.1	-	1	250	c.111_111CA>A	c.(109-111)ccafs	p.P37fs	MRPL24_uc001fpx.1_Frame_Shift_Del_p.P37fs	NM_024540	NP_663781	Q96A35	RM24_HUMAN	Homo sapiens mitochondrial ribosomal protein L24 (MRPL24), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	37					translation	mitochondrion|ribosome	structural constituent of ribosome	p.P37T(1)		endometrium(1)|large_intestine(1)|lung(4)	6	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GCCTGATCCATGGGGGGTTCT	0.597												
FCRL3	115352	broad.mit.edu	37	1	157660081	157660081	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr1:157660080_157660080GC>G	uc001fqz.4	-	8	1947	c.1655_1655GC>C	c.(1654-1656)gccfs	p.A552fs	FCRL3_uc001fqx.4_Non-coding_Transcript|FCRL3_uc001fqy.4_Non-coding_Transcript|FCRL3_uc009wsn.3_Non-coding_Transcript|FCRL3_uc009wso.3_Non-coding_Transcript|FCRL3_uc001fra.3_Frame_Shift_Del_p.A278fs|FCRL3_uc001frb.3_Frame_Shift_Del_p.A552fs|FCRL3_uc001frc.1_Frame_Shift_Del_p.A552fs	NM_052939	NP_443171	Q96P31	FCRL3_HUMAN	Homo sapiens Fc receptor-like 3 (FCRL3), mRNA.	552	Ig-like C2-type 6.					integral to membrane|plasma membrane	receptor activity			autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)	69	all_hematologic(112;0.0378)					ACTGTGCTGGGCCCCCAGGCC	0.468												
ARHGAP30	257106	broad.mit.edu	37	1	161017718	161017719	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr1:161017717_161017718T>TG	uc001fxl.3	-	11	3439_3440	c.3093_3094A>CA	c.(3091-3096)cccagafs	p.P1031fs	USF1_uc001fxj.3_5'Flank|USF1_uc001fxi.3_5'Flank|ARHGAP30_uc001fxk.3_Frame_Shift_Ins_p.P820fs|ARHGAP30_uc001fxm.3_Frame_Shift_Ins_p.P877fs|ARHGAP30_uc009wtx.3_Frame_Shift_Ins_p.P704fs	NM_001025598	NP_001020769	Q7Z6I6	RHG30_HUMAN	Homo sapiens Rho GTPase activating protein 30 (ARHGAP30), transcript variant 1, mRNA.	1031					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(2)|cervix(3)|endometrium(4)|kidney(2)|large_intestine(4)|lung(6)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)			GGGGAGGTTCTGGGGATGAGGC	0.609												
HMCN1	83872	broad.mit.edu	37	1	186017945	186017946	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr1:186017944_186017945G>GA	uc001grq.1	+	41	6779_6780	c.6550_6551G>GA	c.(6550-6552)gaafs	p.E2184fs		NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	Homo sapiens hemicentin 1 (HMCN1), mRNA.	2184	Ig-like C2-type 19.			E -> EK (in Ref. 1).	response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TGGAAAAACTGAAAAAAACTAC	0.361												
NR5A2	2494	broad.mit.edu	37	1	200008890	200008891	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr1:200008889_200008890T>TG	uc001gvb.3	+	1	374_375	c.168_169T>TG	c.(166-171)catgggfs	p.H56fs	NR5A2_uc001gvc.3_Intron|NR5A2_uc009wzh.3_Frame_Shift_Ins_p.H16fs|NR5A2_uc010pph.2_5'Flank|NR5A2_uc009wzg.1_Non-coding_Transcript	NM_205860	NP_995582	O00482	NR5A2_HUMAN	Homo sapiens nuclear receptor subfamily 5, group A, member 2 (NR5A2), transcript variant 1, mRNA.	56					embryo development|positive regulation of viral genome replication|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	lipid binding|protein binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	31	Prostate(682;0.19)					CTCGATCGCATGGGGAACAGGG	0.698												
RBBP5	5929	broad.mit.edu	37	1	205065950	205065950	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr1:205065949_205065949TG>T	uc010prd.2	-	10	1643	c.1362_1362CA>A	c.(1360-1362)ccafs	p.P454fs	RBBP5_uc010pre.2_Frame_Shift_Del_p.P292fs|RBBP5_uc001hbu.2_Frame_Shift_Del_p.P419fs|RBBP5_uc001hbv.2_Frame_Shift_Del_p.P419fs	NM_005057	NP_005048	Q15291	RBBP5_HUMAN	Homo sapiens retinoblastoma binding protein 5 (RBBP5), transcript variant 1, mRNA.	419					histone H3-K4 methylation|regulation of transcription, DNA-dependent|response to estrogen stimulus|transcription, DNA-dependent	MLL1 complex|Set1C/COMPASS complex	methylated histone residue binding|transcription regulatory region DNA binding			cervix(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	27	Breast(84;0.0505)		BRCA - Breast invasive adenocarcinoma(75;0.0923)			CTGCATCCGGTGGGGGGCCGT	0.502												
USH2A	7399	broad.mit.edu	37	1	215990384	215990384	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr1:215990383_215990383GT>G	uc001hku.1	-	47	9913	c.9526_9526AC>C	c.(9526-9528)cctfs	p.P3176fs		NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	3176	Fibronectin type-III 18.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		ATAGATTCAGGTTTTTGACAC	0.398										HNSCC(13;0.011)		
URB2	9816	broad.mit.edu	37	1	229779326	229779326	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr1:229779325_229779325TG>T	uc001hts.1	+	4	3816	c.3680_3680TG>T	c.(3679-3681)ttgfs	p.L1227fs	URB2_uc009xfd.1_Frame_Shift_Del_p.L1227fs	NM_014777	NP_055592	Q14146	URB2_HUMAN	Homo sapiens URB2 ribosome biogenesis 2 homolog (S. cerevisiae) (URB2), mRNA.	1227						nucleolus				breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6)	73						GAGCCTCATTTGGGAGCCTTG	0.453												
DHX57	90957	broad.mit.edu	37	2	39082231	39082231	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr2:39082230_39082230AC>A	uc002rrf.3	-	7	1973	c.1874_1874GT>T	c.(1873-1875)gtgfs	p.V625fs	DHX57_uc002rrd.4_5'UTR|DHX57_uc002rre.3_Frame_Shift_Del_p.V58fs|DHX57_uc002rrg.3_Frame_Shift_Del_p.V625fs	NM_198963	NP_945314	Q6P158	DHX57_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57 (DHX57), mRNA.	625	Helicase ATP-binding.						ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	62		all_hematologic(82;0.248)				CTGGTATCCCACGGTCAGACC	0.443												
THADA	63892	broad.mit.edu	37	2	43799004	43799004	+	Splice_Site	DEL	A	A	-			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr2:43799003_43799003TA>T	uc002rsw.4	-	13	2261	c.1909_splice	c.e13-1	p.V637_splice	THADA_uc010far.3_5'Flank|THADA_uc002rsx.4_Splice_Site_p.V637_splice|THADA_uc002rsy.4_Splice_Site|THADA_uc010fas.1_Splice_Site|THADA_uc002rsz.3_Splice_Site_p.V347_splice|THADA_uc010fat.1_5'Flank|THADA_uc002rta.2_Splice_Site_p.V347_splice|THADA_uc002rtb.1_Splice_Site_p.V637_splice|THADA_uc002rtc.4_Splice_Site_p.V637_splice|THADA_uc002rtd.3_Splice_Site_p.V637_splice	NM_001083953	NP_071348	Q6YHU6	THADA_HUMAN	Homo sapiens thyroid adenoma associated (THADA), transcript variant 3, mRNA.	637							binding			breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)				TATCCTTACCTAAAAAACATC	0.318												
LHCGR	3973	broad.mit.edu	37	2	48925846	48925846	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr2:48925845_48925845AT>A	uc002rwu.4	-	8	845	c.775_775AT>T	c.(775-777)ttgfs	p.L259fs	STON1-GTF2A1L_uc021vhf.1_Intron|LHCGR_uc002rwv.2_Non-coding_Transcript	NM_000233	NP_000224	P22888	LSHR_HUMAN	Homo sapiens luteinizing hormone/choriogonadotropin receptor (LHCGR), mRNA.	259					male genitalia development|male gonad development	endosome|integral to plasma membrane	luteinizing hormone receptor activity			NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(3)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	56		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032)	CTTGATGGCAATTTTTTTAGA	0.453												
PCYOX1	51449	broad.mit.edu	37	2	70486622	70486622	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr2:70486621_70486621AG>A	uc002sgn.4	+	1	308	c.242_242AG>A	c.(241-243)cagfs	p.Q81fs	PCYOX1_uc010fdo.3_Frame_Shift_Del_p.Q4fs|PCYOX1_uc010yqu.2_Frame_Shift_Del_p.Q81fs	NM_016297	NP_057381	Q9UHG3	PCYOX_HUMAN	Homo sapiens prenylcysteine oxidase 1 (PCYOX1), mRNA.	81					prenylated protein catabolic process	lysosome|very-low-density lipoprotein particle	prenylcysteine oxidase activity			breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)	15						ATGATGGTGCAGGGGCAAGAA	0.483												
AUP1	550	broad.mit.edu	37	2	74755993	74755993	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr2:74755992_74755992TC>T	uc002smh.3	-	2	824	c.137_137GA>A	c.(136-138)gagfs	p.E46fs	DQX1_uc010yrw.2_5'Flank|AUP1_uc002sme.3_5'Flank|AUP1_uc002smf.3_Frame_Shift_Del_p.E137fs|AUP1_uc002smg.3_Non-coding_Transcript|AUP1_uc010yrx.2_Frame_Shift_Del_p.E194fs|AUP1_uc021vjm.1_Frame_Shift_Del_p.E46fs|AUP1_uc010yry.2_3'UTR|HTRA2_uc002smi.1_5'Flank|HTRA2_uc002smj.1_5'Flank|HTRA2_uc002smk.1_5'Flank|HTRA2_uc002sml.1_5'Flank|HTRA2_uc010ffl.3_5'Flank			Q9Y679	AUP1_HUMAN	Homo sapiens ancient ubiquitous protein 1 (AUP1), mRNA.	203						endoplasmic reticulum membrane|integral to membrane|nucleus	protein binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(7)	11						CTCCACCAACTCCCCCCGCCC	0.582												
FER1L5	90342	broad.mit.edu	37	2	97369018	97369020	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr2:97369017_97369019TAAG>T	uc010fia.3	+	48	5733_5735	c.5733_5735TAAG>T	c.(5731-5736)tttaag>ttTg	p.K1914del	FER1L5_uc002sws.4_In_Frame_Del_p.K623del|FER1L5_uc010yus.2_In_Frame_Del_p.K622del	NM_001113382	NP_001106853	A0AVI2	FR1L5_HUMAN	Homo sapiens fer-1-like 5 (C. elegans) (FER1L5), mRNA.	1914						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(9)|large_intestine(9)|lung(6)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2)	38						TCTCCCTCTTTAAGAAGAAGACT	0.576												
MCM6	4175	broad.mit.edu	37	2	136624231	136624231	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr2:136624230_136624230TA>T	uc002tuw.3	-	4	760	c.684_684TA>A	c.(682-684)ttafs	p.L228fs		NM_005915	NP_005906	Q14566	MCM6_HUMAN	Homo sapiens minichromosome maintenance complex component 6 (MCM6), mRNA.	228					DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|cell cycle checkpoint	MCM complex	ATP binding|identical protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(15)|prostate(2)|skin(1)	29				BRCA - Breast invasive adenocarcinoma(221;0.166)	Atorvastatin(DB01076)	CTTCAGCCCTTAAAATTACTT	0.478												
SCN9A	6335	broad.mit.edu	37	2	167055359	167055359	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr2:167055358_167055358CT>C	uc010fpl.3	-	26	6099	c.5758_5758AG>G	c.(5758-5760)gatfs	p.D1920fs	BC051759_uc002udp.3_Intron	NM_002977	NP_002968	Q15858	SCN9A_HUMAN	Homo sapiens sodium channel, voltage-gated, type IX, alpha subunit (SCN9A), mRNA.	1931						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	AAAGCCATATCTTTTTTATTG	0.353												
DYNC1I2	1781	broad.mit.edu	37	2	172563057	172563058	+	Splice_Site	INS	-	-	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr2:172563056_172563057G>GT	uc002uha.1	+	4	392	c.227_splice	c.e4-1	p.V76_splice	DYNC1I2_uc002uhb.1_Intron|DYNC1I2_uc010zds.1_Intron|DYNC1I2_uc002uhc.3_Intron|DYNC1I2_uc002uhd.1_Intron|DYNC1I2_uc002uhe.1_Splice_Site_p.V76_splice|DYNC1I2_uc002uhf.1_Intron|DYNC1I2_uc010zdt.1_Intron|DYNC1I2_uc002uhg.1_5'Flank	NM_001378	NP_001369	Q13409	DC1I2_HUMAN	Homo sapiens dynein, cytoplasmic 1, intermediate chain 2 (DYNC1I2), mRNA.	76					G2/M transition of mitotic cell cycle|interspecies interaction between organisms|microtubule-based movement|transport	centrosome|cytosol|dynein complex|microtubule|vesicle	microtubule motor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(2)|ovary(1)	15			OV - Ovarian serous cystadenocarcinoma(117;0.198)			GTACACTTCAGTTTTTTCTGAA	0.332												
TTN	7273	broad.mit.edu	37	2	179489284	179489285	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr2:179489283_179489284T>TG	uc021vsy.1	-	190	37244_37245	c.37019_37020A>CA	c.(37018-37020)aaafs	p.K12340fs	MIR548N_uc021vsx.1_Intron|TTN_uc021vsz.1_Frame_Shift_Ins_p.K6035fs|TTN_uc021vta.1_Frame_Shift_Ins_p.K5968fs|TTN_uc021vtb.1_Frame_Shift_Ins_p.K5843fs	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	13267							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTATAACAAGTTTTCTGACCCT	0.381												
ITGAV	3685	broad.mit.edu	37	2	187521085	187521085	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr2:187521084_187521084AG>A	uc002upq.3	+	16	1951	c.1675_1675AG>A	c.(1675-1677)aggfs	p.R559fs	ITGAV_uc010frs.3_Frame_Shift_Del_p.R523fs|ITGAV_uc010zfv.2_Frame_Shift_Del_p.R513fs	NM_002210	NP_002201	P06756	ITAV_HUMAN	Homo sapiens integrin, alpha V (vitronectin receptor, alpha polypeptide, antigen CD51) (ITGAV), transcript variant 1, mRNA.	559					ERK1 and ERK2 cascade|angiogenesis|axon guidance|blood coagulation|cell-matrix adhesion|entry of bacterium into host cell|entry of symbiont into host cell by promotion of host phagocytosis|entry of virus into host cell|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|positive regulation of cell adhesion|positive regulation of cell proliferation|regulation of apoptotic cell clearance	integrin complex	receptor activity|transforming growth factor beta binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47			OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189)	STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108)		GACTATTTCAAGGGGGGGACT	0.428												
MOGAT1	116255	broad.mit.edu	37	2	223559161	223559161	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr2:223559160_223559160TG>T	uc010fws.1	+	3	606	c.558_558TG>T	c.(556-558)cttfs	p.L186fs	MOGAT1_uc010fwt.1_Frame_Shift_Del_p.L146fs	NM_058165	NP_477513	Q96PD6	MOGT1_HUMAN	Homo sapiens monoacylglycerol O-acyltransferase 1 (MOGAT1), mRNA.	186					glycerol metabolic process	endoplasmic reticulum membrane|integral to membrane	2-acylglycerol O-acyltransferase activity			breast(1)|cervix(1)|endometrium(1)|lung(5)|urinary_tract(1)	9		Renal(207;0.0183)		Epithelial(121;4.13e-10)|all cancers(144;2.06e-07)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0105)		TCATTGTCCTTGGGGGTGCAA	0.443												
GRM7	2917	broad.mit.edu	37	3	7456819	7456819	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr3:7456818_7456818CA>C	uc003bqm.2	+	4	1416	c.1142_1142CA>C	c.(1141-1143)tcafs	p.S381fs	GRM7_uc011ata.1_Non-coding_Transcript|GRM7_uc011atb.1_Non-coding_Transcript|GRM7_uc010hcf.2_Non-coding_Transcript|GRM7_uc011atc.1_Non-coding_Transcript|GRM7_uc010hcg.2_Frame_Shift_Del_p.S381fs|GRM7_uc003bql.2_Frame_Shift_Del_p.S381fs|GRM7_uc003bqn.1_5'UTR	NM_000844	NP_000835	Q14831	GRM7_HUMAN	Homo sapiens glutamate receptor, metabotropic 7 (GRM7), transcript variant 1, mRNA.	381					negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	PDZ domain binding|adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|serine binding	p.S381T(1)		breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76					L-Glutamic Acid(DB00142)	ATTAGTGGGTCAAAAAAAGAA	0.423												
TTLL3	26140	broad.mit.edu	37	3	9876804	9876804	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr3:9876803_9876803GC>G	uc003btg.3	+	12	2425	c.1949_1949GC>G	c.(1948-1950)ggcfs	p.G650fs	TTLL3_uc003btd.4_3'UTR|TTLL3_uc003btc.2_Intron|TTLL3_uc003btf.4_3'UTR|TTLL3_uc003bth.4_3'UTR|TTLL3_uc011atj.2_3'UTR|TTLL3_uc003btj.4_3'UTR|TTLL3_uc003bti.4_3'UTR	NM_001025930	NP_001021100	Q9Y4R7	TTLL3_HUMAN	Homo sapiens tubulin tyrosine ligase-like family, member 3 (TTLL3), transcript variant 1, mRNA.	650					axoneme assembly|cilium assembly|protein polyglycylation	cilium axoneme|cytoplasm|microtubule	protein-glycine ligase activity, initiating|tubulin-tyrosine ligase activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(2)|skin(1)	26	Medulloblastoma(99;0.227)					TGCCTCCGAGGCCCCCAGCTG	0.577												
PPARG	5468	broad.mit.edu	37	3	12434182	12434182	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr3:12434181_12434181CA>C	uc003bwx.3	+	3	640	c.549_549CA>C	c.(547-549)cacfs	p.H183fs	PPARG_uc003bwr.3_Frame_Shift_Del_p.H155fs|PPARG_uc003bws.3_Frame_Shift_Del_p.H155fs|PPARG_uc003bwu.3_Frame_Shift_Del_p.H155fs|PPARG_uc003bwv.3_Frame_Shift_Del_p.H155fs|PPARG_uc010hea.1_Non-coding_Transcript|PPARG_uc003bwt.1_Frame_Shift_Del_p.H155fs|PPARG_uc003bww.1_Frame_Shift_Del_p.H183fs	NM_015869	NP_619726	P37231	PPARG_HUMAN	Homo sapiens peroxisome proliferator-activated receptor gamma (PPARG), transcript variant 2, mRNA.	183					activation of caspase activity|cell fate commitment|cell maturation|cellular response to insulin stimulus|epithelial cell differentiation|glucose homeostasis|induction of apoptosis|innate immune response|lipid homeostasis|lipoprotein transport|long-chain fatty acid transport|low-density lipoprotein particle receptor biosynthetic process|monocyte differentiation|negative regulation of cholesterol storage|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of macrophage derived foam cell differentiation|negative regulation of receptor biosynthetic process|negative regulation of sequestering of triglyceride|negative regulation of transcription from RNA polymerase II promoter|placenta development|positive regulation of fat cell differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to lipid|response to low-density lipoprotein particle stimulus|white fat cell differentiation	cytosol|nucleoplasm	activating transcription factor binding|arachidonic acid binding|drug binding|enzyme binding|prostaglandin receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding		PAX8/PPARG(117)	breast(2)|endometrium(4)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)	20					Atorvastatin(DB01076)|Icosapent(DB00159)|Pioglitazone(DB01132)|Rosiglitazone(DB00412)|Troglitazone(DB00197)	GTCGGATCCACAAAAAAAGTA	0.363			T	PAX8	follicular thyroid		"""Insulin resistance ; lipodystrophy, familial partial L;diabetes mellitus, insulin-resistantI, with acanthosis nigricans and hypertension"""					
TBC1D5	9779	broad.mit.edu	37	3	17255753	17255753	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr3:17255752_17255752TA>T	uc010hev.3	-	19	2029	c.1765_1765TA>A	c.(1765-1767)agcfs	p.S589fs	TBC1D5_uc010heu.3_Frame_Shift_Del_p.S154fs|TBC1D5_uc003cbf.3_Frame_Shift_Del_p.S567fs|TBC1D5_uc003cbe.3_Frame_Shift_Del_p.S567fs|TBC1D5_uc010hew.1_Frame_Shift_Del_p.S541fs	NM_001134381	NP_001127853	Q92609	TBCD5_HUMAN	Homo sapiens TBC1 domain family, member 5 (TBC1D5), transcript variant 1, mRNA.	567						intracellular	Rab GTPase activator activity|protein binding			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	36						GAGATGTTGCTAAAAAAGGAA	0.393												
LRRFIP2	9209	broad.mit.edu	37	3	37114286	37114287	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr3:37114285_37114286A>AT	uc003cgp.2	-	21	1882_1883	c.1459_1460T>AT	c.(1459-1461)attfs	p.I487fs	LRRFIP2_uc011ayf.1_Frame_Shift_Ins_p.I303fs|LRRFIP2_uc003cgs.3_Intron|LRRFIP2_uc003cgt.3_Intron	NM_006309	NP_006300	Q9Y608	LRRF2_HUMAN	Homo sapiens leucine rich repeat (in FLII) interacting protein 2 (LRRFIP2), transcript variant 1, mRNA.	487					Wnt receptor signaling pathway		LRR domain binding	p.0?(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22						TCATACCCCAATTTTTTTATCT	0.396												
MYRIP	25924	broad.mit.edu	37	3	40085641	40085641	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr3:40085640_40085640CT>C	uc003cka.3	+	2	345	c.210_210CT>C	c.(208-210)cccfs	p.P70fs	MYRIP_uc010hhu.3_Non-coding_Transcript|MYRIP_uc010hhv.3_Frame_Shift_Del_p.P70fs|MYRIP_uc010hhw.3_Frame_Shift_Del_p.P27fs|MYRIP_uc010hhx.1_Frame_Shift_Del_p.P70fs	NM_015460	NP_056275	Q8NFW9	MYRIP_HUMAN	Homo sapiens myosin VIIA and Rab interacting protein (MYRIP), mRNA.	70	RabBD.				intracellular protein transport		actin binding|zinc ion binding	p.S69S(1)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(2)|lung(10)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				KIRC - Kidney renal clear cell carcinoma(284;0.174)|Kidney(284;0.206)		GCTGCTCGCCCTTCACCTTCC	0.557												
TREX1	11277	broad.mit.edu	37	3	48508192	48508192	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr3:48508191_48508191GC>G	uc003ctj.3	+	1	1559	c.302_302GC>G	c.(301-303)agcfs	p.S101fs	TREX1_uc010hjy.3_Frame_Shift_Del_p.S46fs|TREX1_uc010hjz.3_Frame_Shift_Del_p.S46fs|TREX1_uc003ctk.3_5'UTR|TREX1_uc010hka.3_Frame_Shift_Del_p.S101fs	NM_033629	NP_338599	Q9NSU2	TREX1_HUMAN	Homo sapiens three prime repair exonuclease 1 (TREX1), transcript variant 4, mRNA.	101					DNA recombination|DNA replication|cell death|mismatch repair	nuclear envelope	3'-5'-exodeoxyribonuclease activity|MutLalpha complex binding|MutSalpha complex binding|exodeoxyribonuclease III activity|metal ion binding|protein homodimerization activity|single-stranded DNA binding			breast(1)|kidney(1)|large_intestine(1)|lung(3)|skin(3)	9				BRCA - Breast invasive adenocarcinoma(193;0.000286)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		GCCCTGGAGAGCCCCCCCACC	0.642												
CELSR3	1951	broad.mit.edu	37	3	48699181	48699181	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr3:48699180_48699180CG>C	uc003cuf.1	-	2	1098	c.1098_1098CG>G	c.(1096-1098)ccgfs	p.P366fs	CELSR3_uc003cul.3_Frame_Shift_Del_p.P296fs	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN	Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 3 (flamingo homolog, Drosophila) (CELSR3), mRNA.	296	Cadherin 1.				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding|protein binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CCGGGAGTCCCGGGGGACGCG	0.716												
VPRBP	9730	broad.mit.edu	37	3	51457615	51457615	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr3:51457614_51457614TG>T	uc003dbe.2	-	13	2836	c.2651_2651CA>A	c.(2650-2652)cagfs	p.Q884fs	VPRBP_uc021wys.1_Frame_Shift_Del_p.Q883fs|VPRBP_uc003dbf.1_Frame_Shift_Del_p.Q213fs	NM_014703	NP_055518	Q9Y4B6	VPRBP_HUMAN	Homo sapiens Vpr (HIV-1) binding protein (VPRBP), transcript variant 1, mRNA.	937					interspecies interaction between organisms	cytoplasm|nucleus	protein binding			breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(193;0.000272)|Kidney(197;0.000729)|KIRC - Kidney renal clear cell carcinoma(197;0.000875)		TAGCGGACCCTGGGGGGGCCG	0.592												
LRIG1	26018	broad.mit.edu	37	3	66434513	66434513	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr3:66434512_66434512GA>G	uc003dmx.3	-	13	1988	c.1974_1974TC>C	c.(1972-1974)ttcfs	p.F658fs	SLC25A26_uc011bft.2_Intron|LRIG1_uc011bfu.2_Frame_Shift_Del_p.F278fs|LRIG1_uc003dmw.3_Frame_Shift_Del_p.F324fs|LRIG1_uc010hnz.3_Frame_Shift_Del_p.F374fs|LRIG1_uc010hoa.3_Intron	NM_015541	NP_056356	Q96JA1	LRIG1_HUMAN	Homo sapiens leucine-rich repeats and immunoglobulin-like domains 1 (LRIG1), mRNA.	658	Ig-like C2-type 2.					integral to membrane				NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1)	42		Lung NSC(201;0.0101)		BRCA - Breast invasive adenocarcinoma(55;0.00047)		CATCAGTGATGAAAAACACGT	0.527												
DCBLD2	131566	broad.mit.edu	37	3	98538128	98538129	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr3:98538127_98538128G>GT	uc003dte.3	-	7	1368_1369	c.1005_1006C>AC	c.(1003-1008)aaacctfs	p.K335fs	DCBLD2_uc003dtd.3_Frame_Shift_Ins_p.K335fs	NM_080927	NP_563615	Q96PD2	DCBD2_HUMAN	Homo sapiens discoidin, CUB and LCCL domain containing 2 (DCBLD2), mRNA.	335	F5/8 type C.				cell adhesion|intracellular receptor mediated signaling pathway|negative regulation of cell growth|wound healing	cell surface|integral to plasma membrane				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|stomach(2)	25						GGCGGTCCAGGTTTTTTCAGCC	0.426												
CCDC80	151887	broad.mit.edu	37	3	112357154	112357154	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr3:112357153_112357153CT>C	uc003dzf.3	-	1	1818	c.1600_1600AG>G	c.(1600-1602)gcafs	p.A534fs	CCDC80_uc011bhv.2_Frame_Shift_Del_p.A534fs|CCDC80_uc003dzg.3_Frame_Shift_Del_p.A534fs|CCDC80_uc003dzh.1_Frame_Shift_Del_p.A534fs	NM_199512	NP_955806	Q76M96	CCD80_HUMAN	Homo sapiens coiled-coil domain containing 80 (CCDC80), transcript variant 2, mRNA.	534	Lys-rich.									breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(21)|ovary(3)|pancreas(2)|prostate(4)	51						GACTCCTTTGCTTTTTTAAGG	0.423												
PLXNA1	5361	broad.mit.edu	37	3	126735391	126735391	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr3:126735390_126735390AC>A	uc003ejg.3	+	14	3045	c.3045_3045AC>A	c.(3043-3045)acafs	p.T1015fs		NM_032242	NP_115618	Q9UIW2	PLXA1_HUMAN	Homo sapiens plexin A1 (PLXNA1), mRNA.	1015	IPT/TIG 2.				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity			breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		GGTGCCTGACACCCCCCGGGC	0.622												
RASA2	5922	broad.mit.edu	37	3	141327450	141327450	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr3:141327449_141327449GT>G	uc010huq.1	+	21	2147	c.2147_2147GT>G	c.(2146-2148)agtfs	p.S716fs	RASA2_uc003etz.1_Frame_Shift_Del_p.S712fs|RASA2_uc003eua.1_Frame_Shift_Del_p.S713fs	NM_006506	NP_006497	Q15283	RASA2_HUMAN	Homo sapiens RAS p21 protein activator 2 (RASA2), mRNA.	712					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	Ras GTPase activator activity|metal ion binding			NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	34						AACAGGCTCAGTTTTTATCAT	0.463												
XRN1	54464	broad.mit.edu	37	3	142122607	142122608	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr3:142122606_142122607C>CA	uc003eus.3	-	17	2079_2080	c.2012_2013G>TG	c.(2011-2013)ttgfs	p.L671fs	XRN1_uc010huu.3_Frame_Shift_Ins_p.L137fs|XRN1_uc003eut.3_Frame_Shift_Ins_p.L671fs|XRN1_uc003euu.3_Frame_Shift_Ins_p.L671fs|XRN1_uc003euv.1_Frame_Shift_Ins_p.L532fs	NM_019001	NP_061874	Q8IZH2	XRN1_HUMAN	Homo sapiens 5'-3' exoribonuclease 1 (XRN1), transcript variant 1, mRNA.	671					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear mRNA surveillance|rRNA catabolic process	Golgi apparatus|cytosol|intermediate filament cytoskeleton|plasma membrane	5'-3' exonuclease activity|DNA binding|RNA binding|protein binding			NS(1)|breast(3)|endometrium(6)|kidney(12)|large_intestine(11)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	61						CACTTTTCTTCAAAAAAAACTT	0.292												
ATR	545	broad.mit.edu	37	3	142278199	142278199	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr3:142278198_142278198CT>C	uc003eux.4	-	6	1749	c.1627_1627AG>G	c.(1627-1629)gtgfs	p.V543fs		NM_001184	NP_001175	Q13535	ATR_HUMAN	Homo sapiens ataxia telangiectasia and Rad3 related (ATR), mRNA.	543					DNA damage checkpoint|DNA repair|DNA replication|cell cycle|cellular response to UV|cellular response to gamma radiation|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						CTCTTAAGCACTTTTGTGTAA	0.363								Other conserved DNA damage response genes				
PHC3	80012	broad.mit.edu	37	3	169890471	169890471	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr3:169890470_169890470TG>T	uc003fgl.2	-	2	245	c.211_211CA>A	c.(211-213)agcfs	p.S71fs	PHC3_uc010hws.1_Frame_Shift_Del_p.S59fs|PHC3_uc011bpq.1_Frame_Shift_Del_p.S71fs|PHC3_uc011bpr.1_Frame_Shift_Del_p.S71fs|PHC3_uc003fgm.2_Frame_Shift_Del_p.S71fs|PHC3_uc003fgo.1_Frame_Shift_Del_p.S55fs|PHC3_uc003fgp.3_Frame_Shift_Del_p.S67fs|PHC3_uc003fgq.3_Frame_Shift_Del_p.S71fs	NM_024947	NP_079223	Q8NDX5	PHC3_HUMAN	Homo sapiens polyhomeotic homolog 3 (Drosophila) (PHC3), mRNA.	59					multicellular organismal development	PcG protein complex	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|upper_aerodigestive_tract(2)	26	all_cancers(22;2.67e-22)|all_epithelial(15;4.73e-27)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655)			GCAGCTGAGCTGGGGGGCCGA	0.443												
SKIL	6498	broad.mit.edu	37	3	170102467	170102468	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr3:170102466_170102467C>CA	uc003fgu.3	+	3	2054_2055	c.1342_1343C>CA	c.(1342-1344)caafs	p.Q448fs	SKIL_uc011bps.2_Frame_Shift_Ins_p.Q428fs|SKIL_uc003fgv.3_Intron|SKIL_uc003fgw.3_Frame_Shift_Ins_p.Q448fs	NM_005414	NP_005405	P12757	SKIL_HUMAN	Homo sapiens SKI-like oncogene (SKIL), transcript variant 1, mRNA.	448					cell cycle arrest|negative regulation of cell differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of axonogenesis|protein heterotrimerization|protein homotrimerization|regulation of apoptosis|response to antibiotic|response to growth factor stimulus|skeletal muscle tissue development	PML body|cytoplasm	SMAD binding|chromatin binding|nucleotide binding|protein complex binding|protein domain specific binding|transcription corepressor activity|transcription repressor activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	25	all_cancers(22;7.13e-23)|all_epithelial(15;9.95e-28)|all_lung(20;1.23e-16)|Lung NSC(18;5.15e-16)|Ovarian(172;0.000337)|Breast(254;0.137)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)			TGGTAAACTTCAAAAAACAGTG	0.391												
MFN1	55669	broad.mit.edu	37	3	179069813	179069813	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr3:179069812_179069812AT>A	uc003fjt.3	+	1	328	c.321_321AT>A	c.(319-321)gcafs	p.A107fs	MFN1_uc003fjs.3_Frame_Shift_Del_p.A79fs|MFN1_uc010hxb.3_Non-coding_Transcript	NM_033540	NP_284941	Q8IWA4	MFN1_HUMAN	Homo sapiens mitofusin 1 (MFN1), nuclear gene encoding mitochondrial protein, mRNA.	79					mitochondrial fusion	integral to membrane|mitochondrial outer membrane	GTP binding|GTPase activity	p.G106G(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(3)|prostate(1)|urinary_tract(1)	31	all_cancers(143;1.67e-16)|Ovarian(172;0.0172)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.00225)|BRCA - Breast invasive adenocarcinoma(182;0.0923)			TGAAGGTGGCATTTTTTGGCA	0.383												
SPON2	10417	broad.mit.edu	37	4	1165663	1165664	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr4:1165662_1165663A>AG	uc003gco.4	-	1	526_527	c.197_198T>CT	c.(196-198)cctfs	p.P66fs	SPON2_uc021xkj.1_Frame_Shift_Ins_p.P66fs|SPON2_uc010ibr.3_Frame_Shift_Ins_p.P66fs|SPON2_uc003gcm.1_5'Flank	NM_012445	NP_036577	Q9BUD6	SPON2_HUMAN	Homo sapiens spondin 2, extracellular matrix protein (SPON2), transcript variant 1, mRNA.	66	Spondin.				axon guidance|cell adhesion|innate immune response	proteinaceous extracellular matrix	metal ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|pancreas(1)|skin(1)	9			OV - Ovarian serous cystadenocarcinoma(23;0.00805)	UCEC - Uterine corpus endometrioid carcinoma (64;0.139)|Colorectal(103;0.19)		ACCACTGCGCAGGGGGGCGGAA	0.678												
TMEM165	55858	broad.mit.edu	37	4	56277913	56277913	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr4:56277912_56277912AT>A	uc003hax.2	+	1	606	c.339_339AT>A	c.(337-339)acafs	p.T113fs	TMEM165_uc011bzy.1_Frame_Shift_Del_p.T50fs	NM_018475	NP_060945	Q9HC07	TM165_HUMAN	Homo sapiens transmembrane protein 165 (TMEM165), mRNA.	113						integral to membrane				endometrium(1)|kidney(1)|large_intestine(2)	4	Lung NSC(11;0.00545)|Glioma(25;0.08)|all_neural(26;0.101)|all_epithelial(27;0.135)		LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0103)			GTGATAAGACATTTTTTATAG	0.433												
ADAMTS3	9508	broad.mit.edu	37	4	73184391	73184391	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr4:73184390_73184390CA>C	uc003hgk.2	-	9	1421	c.1384_1384TG>G	c.(1384-1386)gatfs	p.D462fs		NM_014243	NP_055058	O15072	ATS3_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 3 (ADAMTS3), mRNA.	462					collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			CAATCATGATCAAAAGGGTCA	0.353												
DMP1	1758	broad.mit.edu	37	4	88583610	88583611	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr4:88583609_88583610A>AG	uc003hqv.3	+	5	783_784	c.679_680A>AG	c.(679-681)aggfs	p.R227fs	DMP1_uc003hqw.3_Frame_Shift_Ins_p.R211fs	NM_004407	NP_004398	Q13316	DMP1_HUMAN	Homo sapiens dentin matrix acidic phosphoprotein 1 (DMP1), transcript variant 1, mRNA.	227					biomineral tissue development|ossification	cytoplasm|nucleus|proteinaceous extracellular matrix	calcium ion binding|integrin binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(1)|stomach(1)	32		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.227)		OV - Ovarian serous cystadenocarcinoma(123;0.000516)		CAGGAGTGAAAGGGGAAACTCC	0.520												
CFI	3426	broad.mit.edu	37	4	110662150	110662151	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr4:110662149_110662150CCA>C	uc011cft.2	-	13	1883_1884	c.1675_1676TGG>G	c.(1675-1677)ggafs	p.G559fs	CFI_uc003hzq.3_Frame_Shift_Del_p.G348fs|CFI_uc003hzr.4_Frame_Shift_Del_p.G551fs	NM_000204	NP_000195	P05156	CFAI_HUMAN	Homo sapiens complement factor I (CFI), mRNA.	551	Peptidase S1.				complement activation, classical pathway|innate immune response|proteolysis	extracellular space|membrane	scavenger receptor activity|serine-type endopeptidase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|skin(2)|stomach(1)	27		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000331)		CTCTGGTTTTCCACAGTTTTCC	0.450												
FASTKD3	79072	broad.mit.edu	37	5	7863113	7863113	+	Splice_Site	DEL	A	A	-			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr5:7863112_7863112TA>T	uc003jeb.3	-	4	1697	c.1525_splice	c.e4-1	p.G509_splice	FASTKD3_uc011cmp.2_Splice_Site_p.G211_splice|FASTKD3_uc003jec.3_Splice_Site	NM_024091	NP_076996	Q14CZ7	FAKD3_HUMAN	Homo sapiens FAST kinase domains 3 (FASTKD3), transcript variant 1, mRNA.	509					apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						TTTTGGACCCTAAAAAATCAT	0.343												
DNAH5	1767	broad.mit.edu	37	5	13841161	13841161	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr5:13841160_13841160AT>A	uc003jfd.2	-	33	5606	c.5564_5564AT>T	c.(5563-5565)atcfs	p.I1855fs		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	1855	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.I1855M(1)		NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TTTCTGCATGATTTTTTTATC	0.398									Kartagener syndrome			
NUP155	9631	broad.mit.edu	37	5	37309279	37309279	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr5:37309278_37309278AT>A	uc003jku.1	-	23	2838	c.2720_2720AT>T	c.(2719-2721)attfs	p.I907fs	NUP155_uc003jkt.1_Frame_Shift_Del_p.I848fs|NUP155_uc010iuz.1_Frame_Shift_Del_p.I843fs	NM_153485	NP_004289	O75694	NU155_HUMAN	Homo sapiens nucleoporin 155kDa (NUP155), transcript variant 1, mRNA.	907					carbohydrate metabolic process|glucose transport|mRNA transport|nucleocytoplasmic transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear membrane|nuclear pore	protein binding|structural constituent of nuclear pore|transporter activity			endometrium(1)|kidney(16)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	62	all_lung(31;0.000137)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TTGATTGCTAATTTTTTGATA	0.338												
RICTOR	253260	broad.mit.edu	37	5	38946657	38946658	+	Splice_Site	INS	-	-	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr5:38946656_38946657T>TA	uc003jlo.2	-	34	4409	c.4387_splice	c.e34-1	p.V1463_splice	RICTOR_uc003jlp.2_Splice_Site_p.V1439_splice|RICTOR_uc010ivf.2_Splice_Site_p.V1154_splice	NM_152756	NP_689969	Q6R327	RICTR_HUMAN	Homo sapiens RPTOR independent companion of MTOR, complex 2 (RICTOR), mRNA.	1439					T cell costimulation|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	TORC2 complex|cytosol	protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|prostate(3)|skin(5)	75	all_lung(31;0.000396)					ATCCTTTACCTAAAAAAAGATA	0.322												
DHX29	54505	broad.mit.edu	37	5	54586064	54586064	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr5:54586063_54586063AT>A	uc003jpx.3	-	6	1010	c.890_890AT>T	c.(889-891)atafs	p.I297fs	DHX29_uc010ivw.3_Non-coding_Transcript	NM_019030	NP_061903	Q7Z478	DHX29_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 29 (DHX29), mRNA.	297							ATP binding|ATP-dependent helicase activity|translation initiation factor activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|lung(6)|ovary(4)|prostate(1)|skin(3)|urinary_tract(2)	46		Lung NSC(810;4.08e-05)|Breast(144;0.0544)|Prostate(74;0.183)				AAATTTCCTTATTTTTTCCTG	0.353												
CHD1	1105	broad.mit.edu	37	5	98206409	98206409	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr5:98206408_98206408CT>C	uc003knf.3	-	27	4109	c.3961_3961AG>G	c.(3961-3963)gaafs	p.E1321fs	CHD1_uc010jbn.3_Frame_Shift_Del_p.E47fs	NM_001270	NP_001261	O14646	CHD1_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 1 (CHD1), mRNA.	1321					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|methylated histone residue binding	p.E1321fs*22(1)		NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	49		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0717)	Epirubicin(DB00445)	GAAAGAGCTTCTTTTTTTGCA	0.383												
EFNA5	1946	broad.mit.edu	37	5	106716966	106716966	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr5:106716965_106716965CA>C	uc003kol.3	-	4	960	c.678_678TG>G	c.(676-678)ttgfs	p.L226fs		NM_001962	NP_001953	P52803	EFNA5_HUMAN	Homo sapiens ephrin-A5 (EFNA5), mRNA.	226					cell-cell signaling	anchored to plasma membrane|caveola|extracellular space	ephrin receptor binding			large_intestine(6)	6		all_cancers(142;5.15e-06)|all_epithelial(76;4.39e-07)|Prostate(80;0.00726)|Lung NSC(167;0.0736)|Ovarian(225;0.0797)|all_lung(232;0.0854)|Colorectal(57;0.241)		Epithelial(69;1.25e-12)|OV - Ovarian serous cystadenocarcinoma(64;1.32e-11)|BRCA - Breast invasive adenocarcinoma(61;0.0376)|COAD - Colon adenocarcinoma(37;0.109)		GCTATAATGTCAAAAGCATCG	0.522												
MCC	4163	broad.mit.edu	37	5	112363035	112363037	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr5:112363034_112363036TCTC>T	uc003kql.4	-	18	3439_3441	c.3023_3025GAGA>A	c.(3022-3027)gagaac>gAac	p.N1009del	MCC_uc003kqj.4_In_Frame_Del_p.N819del|MCC_uc003kqk.4_Non-coding_Transcript	NM_001085377	NP_001078846	P23508	CRCM_HUMAN	Homo sapiens mutated in colorectal cancers (MCC), transcript variant 1, mRNA.	819					Wnt receptor signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation	cytoplasm|nucleus|plasma membrane	protein binding|receptor activity			endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)		GGCCTGGAGTTCTCCTCCTCTAG	0.507												
ZNF608	57507	broad.mit.edu	37	5	123984684	123984685	+	Frame_Shift_Ins	INS	-	-	C	rs151227213		TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr5:123984683_123984684G>GC	uc003ktq.1	-	3	1576_1577	c.1393_1394C>GC	c.(1393-1395)gccfs	p.A465fs	ZNF608_uc003ktr.1_Intron|ZNF608_uc003kts.1_Frame_Shift_Ins_p.A465fs|ZNF608_uc003ktt.1_Frame_Shift_Ins_p.A465fs	NM_020747	NP_065798	Q9ULD9	ZN608_HUMAN	Homo sapiens zinc finger protein 608 (ZNF608), mRNA.	465						intracellular	zinc ion binding			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1)	46		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)		TTTCCCATTGGCCCCCCCTCTG	0.629												
PCDHB10	56126	broad.mit.edu	37	5	140572181	140572182	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr5:140572180_140572181C>CT	uc003lix.3	+	0	229_230	c.55_56C>CT	c.(55-57)cttfs	p.L19fs		NM_018930	NP_061753	Q9UN67	PCDBA_HUMAN	Homo sapiens protocadherin beta 10 (PCDHB10), mRNA.	19					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GTTTCTTTTTCTTTTTTGGGGA	0.475												
KIAA0141	9812	broad.mit.edu	37	5	141312947	141312947	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr5:141312946_141312946AC>A	uc003lls.3	+	7	999	c.877_877AC>A	c.(877-879)accfs	p.T293fs	KIAA0141_uc003llt.3_Frame_Shift_Del_p.T293fs	NM_001142603	NP_055588	Q14154	DELE_HUMAN	Homo sapiens KIAA0141 (KIAA0141), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	293					apoptosis|regulation of caspase activity	mitochondrion	protein binding			endometrium(3)|large_intestine(4)|lung(5)|skin(1)|urinary_tract(3)	16		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGCAGAGGCACCCCCAGGGA	0.577												
SYCP2L	221711	broad.mit.edu	37	6	10903158	10903158	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr6:10903157_10903157GA>G	uc003mzo.3	+	7	898	c.602_602GA>G	c.(601-603)agafs	p.R201fs	SYCP2L_uc011din.1_Frame_Shift_Del_p.R42fs|SYCP2L_uc010jow.3_5'UTR	NM_001040274	NP_001035364	Q5T4T6	SYC2L_HUMAN	Homo sapiens synaptonemal complex protein 2-like (SYCP2L), mRNA.	201						nucleus				breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	36	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)	Epithelial(50;0.239)			CGAGAAGAGAGAAAAAAATTC	0.388												
PHACTR1	221692	broad.mit.edu	37	6	13228109	13228109	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr6:13228108_13228108TG>T	uc003nah.2	+	8	1420	c.1047_1047TG>T	c.(1045-1047)gatfs	p.D349fs	PHACTR1_uc011dir.2_Frame_Shift_Del_p.D418fs|PHACTR1_uc010jpc.3_Frame_Shift_Del_p.D349fs|PHACTR1_uc003nag.2_Frame_Shift_Del_p.D349fs	NM_030948	NP_112210	Q9C0D0	PHAR1_HUMAN	Homo sapiens phosphatase and actin regulator 1 (PHACTR1), transcript variant 1, mRNA.	349						cell junction|cytoplasm|synapse	actin binding|protein phosphatase inhibitor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	26	Breast(50;0.0427)|Ovarian(93;0.12)	all_hematologic(90;0.122)|Lung SC(78;0.195)	Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239)			ACTCGGGTGATGGGGTCACCA	0.478												
MBOAT1	154141	broad.mit.edu	37	6	20151475	20151475	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr6:20151474_20151474CA>C	uc003ncx.1	-	2	470	c.265_265TG>G	c.(265-267)gtgfs	p.V89fs	MBOAT1_uc011dji.1_Intron	NM_001080480	NP_001073949	Q6ZNC8	MBOA1_HUMAN	Homo sapiens membrane bound O-acyltransferase domain containing 1 (MBOAT1), mRNA.	89					phospholipid biosynthetic process	integral to membrane	acyltransferase activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(5)	20	all_cancers(95;0.244)|Breast(50;0.0379)|Ovarian(93;0.0473)|all_epithelial(95;0.109)		OV - Ovarian serous cystadenocarcinoma(7;0.00392)|all cancers(50;0.0117)|Epithelial(50;0.0454)			AACACCAGCACAAAAAGATGC	0.373												
ZKSCAN4	387032	broad.mit.edu	37	6	28212908	28212908	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr6:28212907_28212907GT>G	uc003nks.1	-	4	1869	c.1625_1625AC>C	c.(1624-1626)actfs	p.T542fs	ZKSCAN4_uc011dlb.1_Frame_Shift_Del_p.T387fs	NM_019110	NP_061983	Q969J2	ZKSC4_HUMAN	Homo sapiens zinc finger with KRAB and SCAN domains 4 (ZKSCAN4), mRNA.	542					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	18						CTGTGAAAGAGTTTTTTTCCC	0.443												
TRIM27	5987	broad.mit.edu	37	6	28872041	28872043	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr6:28872040_28872042TAGA>T	uc003nlr.3	-	7	1706_1708	c.1347_1349TCTA>A	c.(1345-1350)ttctac>ttAc	p.449_450FY>L	TRIM27_uc003nls.3_In_Frame_Del_p.356_357ST>Y|TRIM27_uc003nlt.1_3'UTR	NM_006510	NP_006501	P14373	TRI27_HUMAN	Homo sapiens tripartite motif containing 27 (TRIM27), mRNA.	449	B30.2/SPRY.				cell proliferation|negative regulation of gene expression, epigenetic|negative regulation of transcription from RNA polymerase II promoter|protein trimerization|spermatogenesis|transcription, DNA-dependent	PML body|cytoplasm|integral to plasma membrane|membrane fraction|nuclear membrane	DNA binding|protein binding|transmembrane receptor protein tyrosine kinase activity|zinc ion binding			endometrium(1)|large_intestine(2)|lung(6)|ovary(1)	10						TGTCACGTTGTAGAAGGAGACCT	0.542			T	RET	papillary thyroid							
HLA-G	3135	broad.mit.edu	37	6	29797196	29797197	+	Splice_Site	INS	-	-	C			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr6:29797195_29797196A>AC	uc003nnw.2	+	5	798	c.620_splice	c.e5-1	p.D207_splice	HLA-G_uc021ytw.1_Intron|HLA-G_uc011dmb.2_Splice_Site_p.D179_splice|HLA-G_uc003raj.3_Splice_Site_p.D212_splice|HLA-G_uc003nnz.3_Splice_Site_p.N115_splice|HLA-G_uc010jrn.2_Intron|HLA-G_uc003nny.3_Splice_Site|HLA-G_uc021ytv.1_Intron|HLA-G_uc003ran.1_5'Flank	NM_002127	NP_002118	P17693	HLAG_HUMAN	Homo sapiens major histocompatibility complex, class I, G (HLA-G), mRNA.	207	Alpha-3.				antigen processing and presentation of peptide antigen via MHC class I|cellular defense response|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway	MHC class I protein complex|integral to membrane	MHC class I receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(4)|ovary(3)|pancreas(1)|prostate(5)|skin(1)	21						TTCCTTTCAGACCCCCCCAAGA	0.540												
STK19	8859	broad.mit.edu	37	6	31939846	31939846	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr6:31939845_31939845CG>C	uc003nyv.3	+	0	200	c.72_72CG>C	c.(70-72)ggcfs	p.G24fs	DOM3Z_uc003nyp.1_5'UTR|DOM3Z_uc003nyq.1_5'UTR|DOM3Z_uc010jtl.1_5'UTR|STK19_uc003nyt.3_5'UTR|DOM3Z_uc003nyu.1_5'UTR|STK19_uc011dow.2_Frame_Shift_Del_p.G24fs|STK19_uc011dox.1_5'UTR|STK19_uc003nyw.3_Frame_Shift_Del_p.G24fs|STK19_uc010jtn.1_5'Flank	NM_032454	NP_115830	P49842	STK19_HUMAN	Homo sapiens serine/threonine kinase 19 (STK19), transcript variant 2, mRNA.	24						nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			skin(5)|upper_aerodigestive_tract(2)	7						CCTCCCGGGGCGGGGGAGGTG	0.647												
RGL2	5863	broad.mit.edu	37	6	33263528	33263528	+	Frame_Shift_Del	DEL	A	A	-	rs144150638		TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr6:33263527_33263527GA>G	uc003odv.3	-	6	1338	c.778_778TC>C	c.(778-780)ctcfs	p.L260fs	RGL2_uc003odu.3_5'UTR|RGL2_uc010jur.3_5'UTR|RGL2_uc003odw.3_Frame_Shift_Del_p.L178fs|RGL2_uc011drb.2_Frame_Shift_Del_p.L178fs	NM_004761	NP_001230667	O15211	RGL2_HUMAN	Homo sapiens ral guanine nucleotide dissociation stimulator-like 2 (RGL2), transcript variant 1, mRNA.	260	Ras-GEF.				Ras protein signal transduction|regulation of small GTPase mediated signal transduction	intracellular	Ras guanyl-nucleotide exchange factor activity			breast(2)|cervix(2)|endometrium(7)|kidney(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	34						ATCAAATTGAGAAAAAGTTCC	0.527												
PHF1	5252	broad.mit.edu	37	6	33380026	33380026	+	Splice_Site	DEL	C	C	-			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr6:33380025_33380025GC>G	uc003oeh.3	+	2	221	c.-15_splice	c.e2-1		PHF1_uc011drh.2_Splice_Site|PHF1_uc003oei.3_Splice_Site|PHF1_uc010jux.3_Splice_Site	NM_024165	NP_077084	O43189	PHF1_HUMAN	Homo sapiens PHD finger protein 1 (PHF1), transcript variant 2, mRNA.						chromatin modification	nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19		Ovarian(999;0.0443)				TTCTGGCTAGGCCCCCCCAGG	0.537												
PHF1	5252	broad.mit.edu	37	6	33383747	33383747	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr6:33383746_33383746TG>T	uc003oeh.3	+	14	1811	c.1575_1575TG>T	c.(1573-1575)actfs	p.T525fs	PHF1_uc011drh.2_Non-coding_Transcript|PHF1_uc003oei.3_3'UTR|PHF1_uc010jux.3_Frame_Shift_Del_p.T325fs	NM_024165	NP_077084	O43189	PHF1_HUMAN	Homo sapiens PHD finger protein 1 (PHF1), transcript variant 2, mRNA.	525					chromatin modification	nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19		Ovarian(999;0.0443)				CTCCTGGGACTGGGGGAGGAG	0.617												
REV3L	5980	broad.mit.edu	37	6	111689017	111689018	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr6:111689016_111689017A>AT	uc003puy.4	-	13	6315_6316	c.5974_5975T>AT	c.(5974-5976)attfs	p.I1992fs	REV3L_uc003pux.4_Frame_Shift_Ins_p.I1914fs|REV3L_uc003puz.4_Frame_Shift_Ins_p.I1914fs|REV3L_uc003pva.1_Non-coding_Transcript	NM_002912	NP_002903	O60673	DPOLZ_HUMAN	Homo sapiens REV3-like, catalytic subunit of DNA polymerase zeta (yeast) (REV3L), mRNA.	1992					DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		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)		CATAATCACAATTTTTTTATCT	0.446								DNA polymerases (catalytic subunits)				
MED23	9439	broad.mit.edu	37	6	131929129	131929130	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr6:131929128_131929129A>AT	uc003qcs.1	-	11	1334_1335	c.1160_1161T>AT	c.(1159-1161)aatfs	p.N387fs	MED23_uc003qcq.3_Frame_Shift_Ins_p.N393fs|MED23_uc011eca.1_Intron|MED23_uc003qct.1_Frame_Shift_Ins_p.N393fs|MED23_uc011ecb.1_Non-coding_Transcript	NM_004830	NP_004821	Q9ULK4	MED23_HUMAN	Homo sapiens mediator complex subunit 23 (MED23), transcript variant 1, mRNA.	387					regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor complex	protein binding|transcription coactivator activity	p.K386fs*6(2)|p.K392fs*6(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(12)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	44	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608)		CAGCTAGTGCATTTTTCTGAAT	0.376												
HOXA2	3199	broad.mit.edu	37	7	27140704	27140705	+	Frame_Shift_Del	DEL	GA	GA	-			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr7:27140703_27140704TGA>T	uc003syh.3	-	1	1047_1048	c.772_773TCA>A	c.(772-774)cagfs	p.Q258fs	HOXA2_uc022aaq.1_3'UTR	NM_006735	NP_006726	O43364	HXA2_HUMAN	Homo sapiens homeobox A2 (HOXA2), mRNA.	258						nucleus	sequence-specific DNA binding transcription factor activity			breast(3)|cervix(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(1)	22						AGCCTGCTGCTGAGAGAGGGCA	0.515												
PDE1C	5137	broad.mit.edu	37	7	32209466	32209467	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr7:32209465_32209466T>TG	uc003tco.2	-	2	275_276	c.239_240A>CA	c.(238-240)ccafs	p.P80fs		NM_001191058	NP_001177987	Q14123	PDE1C_HUMAN	Homo sapiens phosphodiesterase 1C, calmodulin-dependent 70kDa (PDE1C), transcript variant 3, mRNA.	0					activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)			GGATCTCCTCTGGGGGTCGAGG	0.500												
PKD1L1	168507	broad.mit.edu	37	7	47925401	47925401	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr7:47925400_47925400TC>T	uc003tny.2	-	17	3123	c.3089_3089GA>A	c.(3088-3090)gagfs	p.E1030fs		NM_138295	NP_612152	Q8TDX9	PK1L1_HUMAN	Homo sapiens polycystic kidney disease 1 like 1 (PKD1L1), mRNA.	1030	REJ.				cell-cell adhesion	integral to membrane			BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						CTCTGGAGCCTCCCCCAGGAC	0.617												
DDC	1644	broad.mit.edu	37	7	50531075	50531075	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr7:50531074_50531074AT>A	uc003tpg.4	-	13	1499	c.1298_1298AT>T	c.(1297-1299)atcfs	p.I433fs	DDC_uc022ade.1_Frame_Shift_Del_p.I355fs|DDC_uc003tpf.4_Frame_Shift_Del_p.I433fs|DDC_uc022adb.1_Frame_Shift_Del_p.I395fs|DDC_uc022adc.1_Frame_Shift_Del_p.I385fs|DDC_uc022add.1_Frame_Shift_Del_p.I340fs	NM_001082971	NP_001076440	P20711	DDC_HUMAN	Homo sapiens dopa decarboxylase (aromatic L-amino acid decarboxylase) (DDC), transcript variant 1, mRNA.	433					cellular amino acid metabolic process|hormone biosynthetic process|neurotransmitter secretion	cytosol	aromatic-L-amino-acid decarboxylase activity|protein binding|pyridoxal phosphate binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(23)|ovary(4)|skin(2)|stomach(1)	40	Glioma(55;0.08)|all_neural(89;0.245)				Amantadine(DB00915)|Carbidopa(DB00190)|Flupenthixol(DB00875)|L-Tryptophan(DB00150)|Levodopa(DB01235)|Pimozide(DB01100)|Pyridoxal Phosphate(DB00114)|Remoxipride(DB00409)	AACCAAGTGGATTTTTTTGGC	0.507												
ZNF117	51351	broad.mit.edu	37	7	64438973	64438973	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr7:64438972_64438972AT>A	uc003ttr.2	-	3	2262	c.977_977AT>T	c.(976-978)attfs	p.I326fs		NM_015852	NP_056936	Q03924	ZN117_HUMAN	Homo sapiens zinc finger protein 117 (ZNF117), mRNA.	326						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|prostate(1)|skin(1)	22		Lung NSC(55;0.0295)|all_lung(88;0.0691)				TCCAGTATGAATTTTTTTATG	0.348												
AUTS2	26053	broad.mit.edu	37	7	70254882	70254883	+	Frame_Shift_Del	DEL	GA	GA	-			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr7:70254881_70254882GGA>G	uc003tvw.4	+	18	3414_3415	c.2679_2680GGA>G	c.(2677-2682)agggagfs	p.R893fs	AUTS2_uc003tvx.4_Frame_Shift_Del_p.R869fs|AUTS2_uc011keg.2_Frame_Shift_Del_p.R345fs	NM_015570	NP_056385	Q8WXX7	AUTS2_HUMAN	Homo sapiens autism susceptibility candidate 2 (AUTS2), transcript variant 1, mRNA.	893										breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		CCAAAGAGAGGGAGAGAGACCA	0.639												
PCLO	27445	broad.mit.edu	37	7	82595385	82595385	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr7:82595384_82595384CT>C	uc003uhx.2	-	3	4009	c.3720_3720AG>G	c.(3718-3720)aagfs	p.K1240fs	PCLO_uc003uhv.2_Frame_Shift_Del_p.K1240fs	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	1179					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						CAGGGGTTGGCTTTTTTTCTT	0.383												
SAMD9	54809	broad.mit.edu	37	7	92730766	92730766	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr7:92730765_92730765AT>A	uc003umf.3	-	2	4916	c.4646_4646AT>T	c.(4645-4647)atcfs	p.I1549fs	SAMD9_uc003umg.3_Frame_Shift_Del_p.I1549fs|SAMD9_uc022ahg.1_Frame_Shift_Del_p.I1549fs	NM_017654	NP_060124	Q5K651	SAMD9_HUMAN	Homo sapiens sterile alpha motif domain containing 9 (SAMD9), transcript variant 1, mRNA.	1549						cytoplasm				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	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)			GGGTATTGTGATTTTTTCATT	0.388												
CBLL1	79872	broad.mit.edu	37	7	107395909	107395909	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr7:107395908_107395908GA>G	uc003veq.3	+	4	742	c.412_412GA>G	c.(412-414)gaafs	p.E138fs	CBLL1_uc011kme.2_Frame_Shift_Del_p.E17fs|CBLL1_uc011kmf.2_Frame_Shift_Del_p.E137fs	NM_024814	NP_079090	Q75N03	HAKAI_HUMAN	Homo sapiens Cas-Br-M (murine) ecotropic retroviral transforming sequence-like 1 (CBLL1), transcript variant 1, mRNA.	138					cell-cell adhesion|negative regulation of cell adhesion|positive regulation of cell migration|positive regulation of endocytosis		protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(3)	21						TATTTTACATGAAAAAAAGGG	0.264												
LAMB1	3912	broad.mit.edu	37	7	107564774	107564774	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr7:107564773_107564773GT>G	uc003vev.2	-	30	5359	c.5198_5198AC>C	c.(5197-5199)actfs	p.T1733fs	LAMB1_uc003vew.2_Frame_Shift_Del_p.T1709fs	NM_002291	NP_002282	P07942	LAMB1_HUMAN	Homo sapiens laminin, beta 1 (LAMB1), mRNA.	1709	Domain I.				axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent			NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TGACTCTTCAGTTTTTTTGGC	0.348												
FAM3C	10447	broad.mit.edu	37	7	121023067	121023067	+	Splice_Site	DEL	A	A	-			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr7:121023066_121023066TA>T	uc003vjx.3	-	2	208	c.-40_splice	c.e2-1		FAM3C_uc010lkm.3_Splice_Site	NM_014888	NP_055703	Q92520	FAM3C_HUMAN	Homo sapiens family with sequence similarity 3, member C (FAM3C), transcript variant 1, mRNA.						multicellular organismal development	cytoplasmic membrane-bounded vesicle|extracellular region	cytokine activity			kidney(1)|lung(8)	9	all_neural(327;0.117)					AATATGCTCCTAAAAAATCAA	0.299												
SPAM1	6677	broad.mit.edu	37	7	123599661	123599661	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr7:123599660_123599660GA>G	uc003vle.3	+	4	1606	c.1167_1167GA>G	c.(1165-1167)aggfs	p.R389fs	SPAM1_uc011koa.1_Frame_Shift_Del_p.R45fs|SPAM1_uc003vld.3_Frame_Shift_Del_p.R389fs|SPAM1_uc022aks.1_Frame_Shift_Del_p.R389fs|SPAM1_uc003vlf.4_Frame_Shift_Del_p.R389fs|SPAM1_uc010lku.3_Frame_Shift_Del_p.R389fs	NM_003117	NP_003108	P38567	HYALP_HUMAN	Homo sapiens sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding) (SPAM1), transcript variant 1, mRNA.	389					binding of sperm to zona pellucida|carbohydrate metabolic process|cell adhesion|fusion of sperm to egg plasma membrane	anchored to membrane|plasma membrane	hyalurononglucosaminidase activity			breast(1)|cervix(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(23)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46					Hyaluronidase(DB00070)	TGTGTATAAGGAAAAACTGGA	0.408												
GPR37	2861	broad.mit.edu	37	7	124404490	124404490	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr7:124404489_124404489TA>T	uc003vli.3	-	0	1193	c.542_542TA>A	c.(541-543)tacfs	p.Y181fs		NM_005302	NP_005293	O15354	GPR37_HUMAN	Homo sapiens G protein-coupled receptor 37 (endothelin receptor type B-like) (GPR37), mRNA.	181						endoplasmic reticulum membrane|integral to plasma membrane	G-protein coupled receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						CCTTGGCCAGTAAAAAAGATC	0.602												
ZNF800	168850	broad.mit.edu	37	7	127014068	127014068	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr7:127014067_127014067CT>C	uc010lla.2	-	4	2035	c.1323_1323AG>G	c.(1321-1323)aagfs	p.K441fs	ZNF800_uc003vlw.1_Frame_Shift_Del_p.K344fs|ZNF800_uc003vlx.1_Frame_Shift_Del_p.K441fs|ZNF800_uc003vly.1_Frame_Shift_Del_p.K441fs	NM_176814	NP_789784	Q2TB10	ZN800_HUMAN	Homo sapiens zinc finger protein 800 (ZNF800), mRNA.	441					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(8)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	32						CCGGTGTGTTCTTTTTTTCAT	0.403												
CLCN1	1180	broad.mit.edu	37	7	143013437	143013437	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr7:143013436_143013436AC>A	uc003wcr.1	+	0	218	c.131_131AC>A	c.(130-132)cacfs	p.H44fs	CLCN1_uc011ktc.1_5'UTR	NM_000083	NP_000074	P35523	CLCN1_HUMAN	Homo sapiens chloride channel 1, skeletal muscle (CLCN1), mRNA.	44					muscle contraction	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58	Melanoma(164;0.205)					GGCCTCCAGCACAGGCTCCGG	0.602												
ABP1	26	broad.mit.edu	37	7	150554121	150554121	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr7:150554120_150554120GC>G	uc003why.1	+	2	4780	c.562_562GC>G	c.(562-564)gccfs	p.A188fs	ABP1_uc003whz.1_Frame_Shift_Del_p.A188fs|ABP1_uc003wia.1_Frame_Shift_Del_p.A188fs	NM_001091	NP_001082	P19801	ABP1_HUMAN	Homo sapiens amiloride binding protein 1 (amine oxidase (copper-containing)) (ABP1), mRNA.	188					amine metabolic process	extracellular space|peroxisome	copper ion binding|diamine oxidase activity|heparin binding|histamine oxidase activity|methylputrescine oxidase activity|primary amine oxidase activity|propane-1,3-diamine oxidase activity|quinone binding			NS(1)|breast(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(3)|prostate(2)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Amiloride(DB00594)|Spermine(DB00127)	CACCGATGTGGCCCCCCGGGG	0.587												
NCAPG2	54892	broad.mit.edu	37	7	158445158	158445158	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr7:158445157_158445157TA>T	uc011kwe.1	-	22	2907	c.2762_2762TA>A	c.(2761-2763)tatfs	p.Y921fs	NCAPG2_uc010lqu.1_Frame_Shift_Del_p.Y713fs|NCAPG2_uc003wnx.1_Frame_Shift_Del_p.Y921fs|NCAPG2_uc003wnv.1_Frame_Shift_Del_p.Y921fs|NCAPG2_uc003wnw.1_Non-coding_Transcript|NCAPG2_uc011kwc.1_Frame_Shift_Del_p.Y422fs|NCAPG2_uc011kwd.1_Frame_Shift_Del_p.Y364fs	NM_017760	NP_060230	Q86XI2	CNDG2_HUMAN	Homo sapiens non-SMC condensin II complex, subunit G2 (NCAPG2), mRNA.	921					cell division|chromosome condensation|mitosis	nucleus	methylated histone residue binding			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	39	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)		TAATGAAACATAAAAAAATCC	0.318												
ZNF596	169270	broad.mit.edu	37	8	196342	196342	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr8:196341_196341TA>T	uc003wot.3	+	5	1782	c.1494_1494TA>T	c.(1492-1494)actfs	p.T498fs	ZNF596_uc003wou.3_Frame_Shift_Del_p.T397fs|ZNF596_uc003wov.3_Frame_Shift_Del_p.T498fs|ZNF596_uc003wow.3_Frame_Shift_Del_p.T498fs	NM_173539	NP_775810	Q8TC21	ZN596_HUMAN	Homo sapiens zinc finger protein 596 (ZNF596), transcript variant 3, mRNA.	498					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|endometrium(2)|large_intestine(6)|lung(5)	14		all_cancers(2;4.81e-29)|all_epithelial(2;5.03e-19)|Lung NSC(2;8.68e-08)|all_lung(2;1.52e-07)|Ovarian(12;0.00965)|Colorectal(14;0.0367)|all_neural(12;0.0837)|Myeloproliferative disorder(644;0.116)|all_hematologic(2;0.138)|Acute lymphoblastic leukemia(644;0.242)		Epithelial(5;3.77e-18)|all cancers(2;5.2e-17)|OV - Ovarian serous cystadenocarcinoma(5;5.37e-09)|BRCA - Breast invasive adenocarcinoma(11;1.7e-06)|Colorectal(2;6.51e-05)|READ - Rectum adenocarcinoma(2;0.0276)|COAD - Colon adenocarcinoma(149;0.0702)		GAACTCACACTAAAAAAGCAA	0.348												
WHSC1L1	54904	broad.mit.edu	37	8	38178634	38178635	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr8:38178633_38178634TTC>T	uc003xli.3	-	7	2283_2284	c.1765_1766GAA>A	c.(1765-1767)aaafs	p.K589fs	WHSC1L1_uc011lbm.2_Frame_Shift_Del_p.K589fs|WHSC1L1_uc010lwe.3_Frame_Shift_Del_p.K589fs|WHSC1L1_uc003xlj.3_Frame_Shift_Del_p.K589fs	NM_023034	NP_075447	Q9BZ95	NSD3_HUMAN	Homo sapiens Wolf-Hirschhorn syndrome candidate 1-like 1 (WHSC1L1), transcript variant long, mRNA.	589					cell differentiation|cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome	histone-lysine N-methyltransferase activity|zinc ion binding			NS(1)|breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065)	Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511)			CTCAGTGGATTTCTCTGATTCA	0.361			T	NUP98	AML							
WHSC1L1	54904	broad.mit.edu	37	8	38187222	38187222	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr8:38187221_38187221GT>G	uc003xli.3	-	5	1774	c.1256_1256AC>C	c.(1255-1257)accfs	p.T419fs	WHSC1L1_uc011lbm.2_Frame_Shift_Del_p.T419fs|WHSC1L1_uc010lwe.3_Frame_Shift_Del_p.T419fs|WHSC1L1_uc003xlj.3_Frame_Shift_Del_p.T419fs	NM_023034	NP_075447	Q9BZ95	NSD3_HUMAN	Homo sapiens Wolf-Hirschhorn syndrome candidate 1-like 1 (WHSC1L1), transcript variant long, mRNA.	419					cell differentiation|cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome	histone-lysine N-methyltransferase activity|zinc ion binding			NS(1)|breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065)	Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511)			TGGTCGTCGGGTTTTTTTAAC	0.433			T	NUP98	AML							
AP3M2	10947	broad.mit.edu	37	8	42012427	42012427	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr8:42012426_42012426TC>T	uc003xop.3	+	2	512	c.221_221TC>T	c.(220-222)gtcfs	p.V74fs	AP3M2_uc003xoo.3_Frame_Shift_Del_p.V74fs|AP3M2_uc010lxe.3_Non-coding_Transcript|AP3M2_uc003xoq.2_5'UTR	NM_001134296	NP_006794	P53677	AP3M2_HUMAN	Homo sapiens adaptor-related protein complex 3, mu 2 subunit (AP3M2), transcript variant 1, mRNA.	74					intracellular protein transport|vesicle-mediated transport	Golgi apparatus|clathrin adaptor complex				endometrium(3)|kidney(1)|large_intestine(1)|lung(10)|prostate(1)|stomach(1)	17	all_cancers(6;8.14e-25)|all_epithelial(6;2.41e-27)|all_lung(13;5.09e-13)|Lung NSC(13;8.38e-12)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0221)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Esophageal squamous(32;0.0954)|Renal(179;0.0983)	BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|Colorectal(10;0.00165)|OV - Ovarian serous cystadenocarcinoma(14;0.00346)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024)			CAGACGGAGGTCCCCCCTCTG	0.468												
PDE7A	5150	broad.mit.edu	37	8	66635840	66635840	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr8:66635839_66635839AT>A	uc003xvq.3	-	11	1406	c.1180_1180AT>T	c.(1180-1182)tatfs	p.Y394fs	PDE7A_uc003xvr.3_Frame_Shift_Del_p.Y394fs|PDE7A_uc003xvp.3_Frame_Shift_Del_p.Y368fs	NM_001242318	NP_001229247	Q13946	PDE7A_HUMAN	Homo sapiens phosphodiesterase 7A (PDE7A), transcript variant 3, mRNA.	394	Catalytic (By similarity).					cell fraction|cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			large_intestine(5)|lung(3)|stomach(1)|urinary_tract(1)	10			Epithelial(68;0.0509)|BRCA - Breast invasive adenocarcinoma(89;0.111)|all cancers(69;0.168)|OV - Ovarian serous cystadenocarcinoma(28;0.238)		Dyphylline(DB00651)|Ketotifen(DB00920)	CCCAAATGATATTTTTTTTCT	0.294												
INTS8	55656	broad.mit.edu	37	8	95853732	95853733	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr8:95853731_95853732A>AT	uc003yhb.3	+	8	1156_1157	c.1030_1031A>AT	c.(1030-1032)attfs	p.I344fs	INTS8_uc003yha.1_Frame_Shift_Ins_p.I344fs|INTS8_uc011lgq.2_Non-coding_Transcript|INTS8_uc011lgr.2_Non-coding_Transcript|INTS8_uc010mba.3_Frame_Shift_Ins_p.I171fs	NM_017864	NP_060334	Q75QN2	INT8_HUMAN	Homo sapiens integrator complex subunit 8 (INTS8), mRNA.	344					snRNA processing	integrator complex	protein binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	28	Breast(36;1.05e-06)					GGTAATACAGATTTTCATTGAA	0.347												
FBXO43	286151	broad.mit.edu	37	8	101154105	101154105	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr8:101154104_101154104CT>C	uc003yjd.3	-	1	1114	c.378_378AG>G	c.(376-378)aagfs	p.K126fs	FBXO43_uc003yje.3_Frame_Shift_Del_p.K92fs|FBXO43_uc010mbp.2_Frame_Shift_Del_p.K126fs	NM_001029860	NP_001025031	Q4G163	FBX43_HUMAN	Homo sapiens F-box protein 43 (FBXO43), transcript variant 2, mRNA.	126					meiosis		zinc ion binding			endometrium(1)|kidney(4)|large_intestine(5)|lung(14)|prostate(1)|skin(5)|urinary_tract(1)	31	all_cancers(14;0.000139)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000274)|all_lung(17;0.000798)		Epithelial(11;1.17e-09)|all cancers(13;1.34e-07)|OV - Ovarian serous cystadenocarcinoma(57;3.82e-05)|STAD - Stomach adenocarcinoma(118;0.0957)			AGATACATTTCTTTTTTTGAG	0.393												
ASAP1	50807	broad.mit.edu	37	8	131149216	131149217	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr8:131149215_131149216A>AT	uc003yta.2	-	13	1377_1378	c.1149_1150T>AT	c.(1147-1152)aaatctfs	p.K383fs	ASAP1_uc003ysz.2_Frame_Shift_Ins_p.K194fs|ASAP1_uc011liw.2_Frame_Shift_Ins_p.K376fs	NM_018482	NP_060952	Q9ULH1	ASAP1_HUMAN	Homo sapiens ArfGAP with SH3 domain, ankyrin repeat and PH domain 1 (ASAP1), transcript variant 1, mRNA.	383	PH.				cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction	cytoplasm|membrane	ARF GTPase activator activity|SH3 domain binding|cytoskeletal adaptor activity|zinc ion binding			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	68						AGGTCAAAAGATTTTTTGTCTT	0.421												
HSF1	3297	broad.mit.edu	37	8	145537675	145537675	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr8:145537674_145537674GC>G	uc003zbt.4	+	11	1511	c.1341_1341GC>G	c.(1339-1341)gagfs	p.E447fs	HSF1_uc003zbu.4_Non-coding_Transcript	NM_005526	NP_005517	Q00613	HSF1_HUMAN	Homo sapiens heat shock transcription factor 1 (HSF1), mRNA.	447	Transactivation domain.					cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(1)|lung(3)|prostate(3)|skin(1)|urinary_tract(2)	11	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-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;3.94e-40)|Epithelial(56;1.12e-39)|all cancers(56;9.11e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0547)|Colorectal(110;0.055)			CTCCCCAGGAGCCCCCCAGGC	0.682												
ZNF883	169834	broad.mit.edu	37	9	115759723	115759723	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr9:115759722_115759722GT>G	uc011lwy.2	-	4	2057	c.818_818AC>C	c.(817-819)accfs	p.T273fs		NM_001101338	NP_001094808	P0CG24	ZN883_HUMAN	Homo sapiens zinc finger protein 883 (ZNF883), mRNA.	273					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding										TCGACTGAAGGTTTTTCCACA	0.383												
RABGAP1	23637	broad.mit.edu	37	9	125861042	125861042	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr9:125861041_125861041TA>T	uc011lzh.2	+	22	2915	c.2781_2781TA>T	c.(2779-2781)attfs	p.I927fs	RABGAP1_uc004bnl.4_Non-coding_Transcript|RABGAP1_uc011lzj.2_Frame_Shift_Del_p.I266fs	NM_012197	NP_036329	Q9Y3P9	RBGP1_HUMAN	Homo sapiens RAB GTPase activating protein 1 (RABGAP1), mRNA.	927					cell cycle	centrosome|cytosol|microtubule associated complex	Rab GTPase activator activity|tubulin binding			breast(3)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|prostate(4)|stomach(3)|upper_aerodigestive_tract(1)	41						AATCTGAGATTAAAAAAAACA	0.398												
TTF1	7270	broad.mit.edu	37	9	135277373	135277373	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr9:135277372_135277372CT>C	uc004cbl.3	-	1	906	c.837_837AG>G	c.(835-837)aagfs	p.K279fs	TTF1_uc004cbm.3_Intron|TTF1_uc011mcp.2_Non-coding_Transcript	NM_007344	NP_031370	Q15361	TTF1_HUMAN	Homo sapiens transcription termination factor, RNA polymerase I (TTF1), transcript variant 1, mRNA.	279	Poly-Lys.				negative regulation of DNA replication|regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription	nucleolus|nucleoplasm	DNA binding			endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;4.25e-06)|Epithelial(140;9.09e-05)		ACTTTTTCTTCTTTTTTTTCT	0.478												
PNPLA7	375775	broad.mit.edu	37	9	140356679	140356679	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr9:140356678_140356678TG>T	uc010ncj.1	-	30	3935	c.3598_3598CA>A	c.(3598-3600)atcfs	p.I1200fs	PNPLA7_uc004cnd.1_Frame_Shift_Del_p.I422fs|PNPLA7_uc004cne.1_Frame_Shift_Del_p.I441fs|PNPLA7_uc011mfa.1_Frame_Shift_Del_p.I583fs|PNPLA7_uc004cnf.2_Frame_Shift_Del_p.I1175fs|NELF_uc004cna.3_5'Flank|NELF_uc004cnb.3_5'Flank|NELF_uc004cmz.3_5'Flank|NELF_uc011mez.2_5'Flank|NELF_uc004cnc.3_5'Flank|NELF_uc022bqi.1_5'Flank	NM_001098537	NP_001092007	Q6ZV29	PLPL7_HUMAN	Homo sapiens patatin-like phospholipase domain containing 7 (PNPLA7), transcript variant 1, mRNA.	1175					lipid metabolic process	endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane	hydrolase activity			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_cancers(76;0.126)			OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)		TAGCTGTCGATGGGGGGGCGC	0.652												
PFKFB3	5209	broad.mit.edu	37	10	6262793	6262793	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr10:6262792_6262792CG>C	uc001ije.3	+	7	1179	c.795_795CG>C	c.(793-795)atcfs	p.I265fs	PFKFB3_uc001ijd.3_Frame_Shift_Del_p.I245fs|PFKFB3_uc009xii.3_Non-coding_Transcript|PFKFB3_uc010qaw.2_Frame_Shift_Del_p.I279fs|PFKFB3_uc001ijf.3_Frame_Shift_Del_p.I265fs	NM_004566	NP_004557	Q16875	F263_HUMAN	Homo sapiens 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3 (PFKFB3), transcript variant 1, mRNA.	265	Fructose-2,6-bisphosphatase.				fructose 2,6-bisphosphate metabolic process|glycolysis	cytosol	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|liver(2)|lung(10)|ovary(3)|upper_aerodigestive_tract(1)	22						AGGGCCGCATCGGGGGCGACT	0.652												
MCM10	55388	broad.mit.edu	37	10	13239741	13239741	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr10:13239740_13239740GA>G	uc001ima.3	+	14	2223	c.2095_2095GA>G	c.(2095-2097)gaafs	p.E699fs	MCM10_uc001imb.3_Frame_Shift_Del_p.E698fs|MCM10_uc001imc.3_Frame_Shift_Del_p.E698fs	NM_182751	NP_877428	Q7L590	MCM10_HUMAN	Homo sapiens minichromosome maintenance complex component 10 (MCM10), transcript variant 1, mRNA.	699					DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|cell cycle checkpoint	nucleoplasm	metal ion binding|protein binding			central_nervous_system(1)|large_intestine(4)|ovary(2)|skin(1)|stomach(1)	9						GGAACGTGTAGAAAAAAACAC	0.398												
SLC39A12	221074	broad.mit.edu	37	10	18254554	18254555	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr10:18254553_18254554T>TC	uc001ipo.2	+	3	958_959	c.685_686T>TC	c.(685-687)tccfs	p.S229fs	SLC39A12_uc001ipn.2_Frame_Shift_Ins_p.S229fs|SLC39A12_uc001ipp.2_Frame_Shift_Ins_p.S229fs|SLC39A12_uc010qck.1_Frame_Shift_Ins_p.S95fs	NM_001145195	NP_001138667	Q504Y0	S39AC_HUMAN	Homo sapiens solute carrier family 39 (zinc transporter), member 12 (SLC39A12), transcript variant 1, mRNA.	229					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						AAACTTGCCTTCCCCAGACTAC	0.441												
PIP4K2A	5305	broad.mit.edu	37	10	22830828	22830828	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr10:22830827_22830827TG>T	uc001irl.4	-	7	1190	c.942_942CA>A	c.(940-942)ccafs	p.P314fs	PIP4K2A_uc010qcu.2_Frame_Shift_Del_p.P174fs	NM_005028	NP_005019	P48426	PI42A_HUMAN	Homo sapiens phosphatidylinositol-5-phosphate 4-kinase, type II, alpha (PIP4K2A), mRNA.	314	PIPK.						1-phosphatidylinositol-4-phosphate 5-kinase activity|1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding			endometrium(4)|kidney(13)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	29						CGGGGCTATCTGGGGGGGTTC	0.582												
ANKRD26	22852	broad.mit.edu	37	10	27332489	27332489	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr10:27332488_27332488GT>G	uc009xku.1	-	19	2200	c.2028_2028AC>C	c.(2026-2028)aacfs	p.N676fs	ANKRD26_uc001itg.2_Frame_Shift_Del_p.N362fs|ANKRD26_uc001ith.2_Frame_Shift_Del_p.N675fs	NM_014915	NP_055730	Q9UPS8	ANR26_HUMAN	Homo sapiens ankyrin repeat domain 26 (ANKRD26), transcript variant 1, mRNA.	675						centrosome				breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2)	70						ACTGTATTTGGTTTTTGACCT	0.343												
ZNF248	57209	broad.mit.edu	37	10	38121115	38121117	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr10:38121114_38121116CAGA>C	uc001izd.1	-	5	1666_1668	c.1167_1169TCTG>G	c.(1165-1170)ttctgg>ttGg	p.389_390FW>L	ZNF248_uc009xmc.2_Intron|ZNF248_uc001izb.3_Intron|ZNF248_uc001izc.3_Intron|ZNF248_uc010qeu.1_In_Frame_Del_p.389_390FW>L	NM_021045	NP_066383	Q8NDW4	ZN248_HUMAN	Homo sapiens zinc finger protein 248 (ZNF248), mRNA.	389					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(2)|urinary_tract(1)	20						TGACTTCTCCCAGAAGGTTTTCC	0.448												
ZNF22	7570	broad.mit.edu	37	10	45499436	45499439	+	Frame_Shift_Del	DEL	ACTT	ACTT	-			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr10:45499435_45499438CACTT>C	uc001jbw.3	+	1	862_865	c.619_622CACTT>C	c.(619-624)cacttafs	p.H207fs	C10orf25_uc001jbv.2_5'Flank|ZNF22_uc001jbx.1_Non-coding_Transcript|ZNF22_uc021ppo.1_Frame_Shift_Del_p.H207fs	NM_006963	NP_008894	P17026	ZNF22_HUMAN	Homo sapiens zinc finger protein 22 (KOX 15) (ZNF22), mRNA.	207					odontogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|plasma membrane	DNA binding|zinc ion binding			NS(1)|breast(2)|endometrium(1)|kidney(2)|lung(2)	8		Prostate(175;0.0352)|all_neural(218;0.202)				GGTGAAGACTCACTTACCCTCTTG	0.441												
ARID5B	84159	broad.mit.edu	37	10	63850705	63850705	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr10:63850704_63850704GA>G	uc001jlt.2	+	9	1938	c.1482_1482GA>G	c.(1480-1482)aagfs	p.K494fs	ARID5B_uc001jlu.2_Frame_Shift_Del_p.K251fs	NM_032199	NP_115575	Q14865	ARI5B_HUMAN	Homo sapiens AT rich interactive domain 5B (MRF1-like) (ARID5B), transcript variant 1, mRNA.	494					liver development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent		protein binding|transcription regulatory region DNA binding			NS(1)|breast(2)|endometrium(13)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	Prostate(12;0.016)|all_hematologic(501;0.215)					CAGACATGAAGAAAAAAATAG	0.438												
PTEN	5728	broad.mit.edu	37	10	89720812	89720813	+	Frame_Shift_Ins	INS	-	-	A	rs121913291		TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr10:89720811_89720812C>CA	uc001kfb.3	+	7	1994_1995	c.962_963C>CA	c.(961-963)acafs	p.T321fs	PTEN_uc021pvw.1_Non-coding_Transcript	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	321	C2 tensin-type.				T cell receptor signaling pathway|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 G1/S transition of mitotic cell cycle|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 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	PML body|cytosol|internal side of plasma membrane	PDZ domain binding|anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion 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.0?(37)|p.T321fs*23(19)|p.T321fs*3(15)|p.R55fs*1(5)|p.L320*(3)|p.T319_K332del(2)|p.T321fs*22(2)|p.?(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.W274_F341del(2)|p.V317_K322del(2)|p.T321fs*6(2)|p.N323fs*2(2)|p.G165_*404del(1)|p.L320V(1)|p.G165_K342del(1)|p.L316fs*1(1)|p.T321fs*4(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		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)		CTTACTTTAACAAAAAATGATC	0.327	N323fs*2(MFE319_ENDOMETRIUM)|N323fs*2(RL952_ENDOMETRIUM)|N323fs*2(SKUT1_SOFT_TISSUE)	31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)		
TACC2	10579	broad.mit.edu	37	10	123844356	123844356	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr10:123844355_123844355TC>T	uc001lfv.3	+	3	2700	c.2340_2340TC>T	c.(2338-2340)catfs	p.H780fs	TACC2_uc001lfw.3_Intron|TACC2_uc009xzx.3_Frame_Shift_Del_p.H780fs|TACC2_uc010qtv.2_Frame_Shift_Del_p.H780fs	NM_206862	NP_996744	O95359	TACC2_HUMAN	Homo sapiens transforming, acidic coiled-coil containing protein 2 (TACC2), transcript variant 1, mRNA.	780						microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				GGGTGCCACATCCCCCCCAGG	0.642												
PWWP2B	170394	broad.mit.edu	37	10	134218255	134218255	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr10:134218254_134218254TC>T	uc001lll.4	+	1	279	c.250_250TC>T	c.(250-252)tccfs	p.S84fs	PWWP2B_uc009ybe.3_Frame_Shift_Del_p.S84fs	NM_138499	NP_612508	Q6NUJ5	PWP2B_HUMAN	Homo sapiens PWWP domain containing 2B (PWWP2B), transcript variant 1, mRNA.	84										central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|urinary_tract(1)	9		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)		GGGGTCCAGCTCCCCCCCTCC	0.746												
OSBPL5	114879	broad.mit.edu	37	11	3115052	3115052	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr11:3115051_3115051AC>A	uc001lxk.2	-	15	1892	c.1734_1734GT>T	c.(1732-1734)ggtfs	p.G578fs	OSBPL5_uc010qxq.1_Frame_Shift_Del_p.G489fs|OSBPL5_uc009ydw.2_Frame_Shift_Del_p.G510fs|OSBPL5_uc001lxl.2_Frame_Shift_Del_p.G510fs|OSBPL5_uc009ydx.3_Frame_Shift_Del_p.G602fs|OSBPL5_uc001lxj.2_Frame_Shift_Del_p.G32fs	NM_020896	NP_065947	Q9H0X9	OSBL5_HUMAN	Homo sapiens oxysterol binding protein-like 5 (OSBPL5), transcript variant 1, mRNA.	578					Golgi to plasma membrane transport|cholesterol metabolic process|cholesterol transport	cytosol	oxysterol binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	25		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207)		TGCTGGTGCTACCCCCGAAGA	0.637												
NLRP14	338323	broad.mit.edu	37	11	7063895	7063895	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr11:7063894_7063894GT>G	uc001mfb.1	+	3	960	c.637_637GT>G	c.(637-639)gttfs	p.V213fs		NM_176822	NP_789792	Q86W24	NAL14_HUMAN	Homo sapiens NLR family, pyrin domain containing 14 (NLRP14), mRNA.	213	NACHT.				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding			breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		GTTTAAGTATGTTTTTTATCT	0.463												
DCDC1	341019	broad.mit.edu	37	11	31327168	31327168	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr11:31327167_31327167AT>A	uc001msv.3	-	5	987	c.749_749AT>T	c.(748-750)attfs	p.I250fs	DCDC5_uc001msu.2_5'UTR	NM_181807	NP_861523	P59894	DCDC1_HUMAN	Homo sapiens doublecortin domain containing 1 (DCDC1), mRNA.	250	Doublecortin.				intracellular signal transduction			p.K249E(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					TTTACCTTTAATTTTTTTGAA	0.383												
ALX4	60529	broad.mit.edu	37	11	44286624	44286624	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr11:44286623_44286623AG>A	uc001myb.3	-	3	1121	c.1017_1017CT>T	c.(1015-1017)cctfs	p.P339fs		NM_021926	NP_068745	Q9H161	ALX4_HUMAN	Homo sapiens ALX homeobox 4 (ALX4), mRNA.	339					hair follicle development			p.P338L(1)		central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	16						CCCCAGAGCCAGGGGGGTGGG	0.692												
INTS4	92105	broad.mit.edu	37	11	77672098	77672098	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr11:77672097_77672097CT>C	uc001oys.3	-	4	587	c.559_559AG>G	c.(559-561)gatfs	p.D187fs	INTS4_uc001oyt.3_Non-coding_Transcript|INTS4_uc001oyu.1_Frame_Shift_Del_p.D187fs	NM_033547	NP_291025	Q96HW7	INT4_HUMAN	Homo sapiens integrator complex subunit 4 (INTS4), mRNA.	187					snRNA processing	integrator complex	protein binding		INTS4/GAB2(2)	NS(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(5)|upper_aerodigestive_tract(1)	32	all_cancers(14;4.53e-19)|all_epithelial(13;1.73e-21)|Breast(9;2.71e-16)|Ovarian(111;0.152)		Epithelial(5;1.13e-46)|all cancers(3;8.92e-44)|BRCA - Breast invasive adenocarcinoma(5;8.4e-26)|OV - Ovarian serous cystadenocarcinoma(8;1.05e-23)			CCTTCTGCATCTTTTGTGACA	0.428												
MLL	4297	broad.mit.edu	37	11	118344186	118344186	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr11:118344185_118344185AC>A	uc001pta.3	+	2	2334	c.2311_2311AC>A	c.(2311-2313)accfs	p.T771fs	MLL_uc001ptb.3_Frame_Shift_Del_p.T771fs|MLL_uc001psz.1_Frame_Shift_Del_p.T804fs|MLL_uc001ptd.1_Intron	NM_005933	NP_005924	Q03164	MLL1_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) (MLL), transcript variant 2, mRNA.	771					apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter	MLL1 complex	AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding			breast(5)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(29)|lung(34)|ovary(6)|pancreas(3)|prostate(8)|skin(6)|urinary_tract(19)	131	all_hematologic(175;0.046)	all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244)		OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144)		CTCACCTCTCACCCCCCCGTC	0.453			"""T, O"""	"""MLL, MLLT1, MLLT2, MLLT3, MLLT4, MLLT7, MLLT10, MLLT6, ELL, EPS15, AF1Q, CREBBP, SH3GL1, FNBP1, PNUTL1, MSF, GPHN, GMPS, SSH3BP1, ARHGEF12, GAS7, FOXO3A, LAF4, LCX, SEPT6, LPP, CBFA2T1, GRAF, EP300, PICALM, HEAB"""	"""AML, ALL"""							
PHLDB1	23187	broad.mit.edu	37	11	118495754	118495754	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr11:118495753_118495753GC>G	uc001ptr.2	+	5	812	c.459_459GC>G	c.(457-459)gggfs	p.G153fs	PHLDB1_uc010ryh.1_Frame_Shift_Del_p.G153fs|PHLDB1_uc001pts.3_Frame_Shift_Del_p.G153fs|PHLDB1_uc001ptt.3_Frame_Shift_Del_p.G153fs|PHLDB1_uc001ptu.2_Non-coding_Transcript|PHLDB1_uc001ptv.2_5'Flank	NM_015157	NP_055972	Q86UU1	PHLB1_HUMAN	Homo sapiens pleckstrin homology-like domain, family B, member 1 (PHLDB1), transcript variant 1, mRNA.	153										breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(10)|liver(3)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(1)	46	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		GAGCCCCTGGGCCCCCCTACA	0.612												
CDON	50937	broad.mit.edu	37	11	125875734	125875735	+	Frame_Shift_Del	DEL	GT	GT	-			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr11:125875733_125875734GGT>G	uc009zbw.3	-	8	1899_1900	c.1771_1772ACC>C	c.(1771-1773)ccafs	p.P591fs	CDON_uc001qdb.4_5'Flank|CDON_uc001qdc.4_Frame_Shift_Del_p.P591fs|CDON_uc001qdd.4_Non-coding_Transcript	NM_001243597	NP_001230526	Q4KMG0	CDON_HUMAN	Homo sapiens Cdon homolog (mouse) (CDON), transcript variant 1, mRNA.	591	Fibronectin type-III 1.				cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation	integral to membrane|plasma membrane	protein binding			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(9)|ovary(3)|prostate(2)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	61	all_hematologic(175;0.177)	Breast(109;0.00157)|Lung NSC(97;0.0127)|all_lung(97;0.0133)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.51e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0604)		GTACGTGTCTGGTGTGTGGGTC	0.535												
VWF	7450	broad.mit.edu	37	12	6161823	6161823	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr12:6161822_6161822TG>T	uc001qnn.1	-	15	2323	c.2073_2073CA>A	c.(2071-2073)ccafs	p.P691fs	VWF_uc010set.1_Intron	NM_000552	NP_000543	P04275	VWF_HUMAN	Homo sapiens von Willebrand factor (VWF), mRNA.	691	TIL 2.				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	Weibel-Palade body|endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein N-terminus binding|protein homodimerization activity			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	TGTAGAGCCCTGGGGGGCAGA	0.612												
PLEKHA5	54477	broad.mit.edu	37	12	19410381	19410381	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr12:19410380_19410380CA>C	uc001reb.3	+	5	554	c.446_446CA>C	c.(445-447)tcafs	p.S149fs	PLEKHA5_uc010sie.2_Frame_Shift_Del_p.S149fs|PLEKHA5_uc001rea.3_Frame_Shift_Del_p.S149fs|PLEKHA5_uc009zin.3_5'UTR|PLEKHA5_uc010sig.2_Frame_Shift_Del_p.S41fs|PLEKHA5_uc010sih.1_Frame_Shift_Del_p.S41fs|PLEKHA5_uc021qvy.1_Frame_Shift_Del_p.S41fs	NM_019012	NP_061885	Q9HAU0	PKHA5_HUMAN	Homo sapiens pleckstrin homology domain containing, family A member 5 (PLEKHA5), transcript variant 1, mRNA.	149							1-phosphatidylinositol binding|protein binding			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)					TCACGAGCTTCAAAAAAAGTT	0.323												
ZC3H10	84872	broad.mit.edu	37	12	56514991	56514992	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr12:56514990_56514991G>GC	uc001sjp.1	+	2	833_834	c.644_645G>GC	c.(643-645)tgcfs	p.C215fs	ZC3H10_uc021qyw.1_Frame_Shift_Ins_p.C215fs	NM_032786	NP_116175	Q96K80	ZC3HA_HUMAN	Homo sapiens zinc finger CCCH-type containing 10 (ZC3H10), mRNA.	215							nucleic acid binding|zinc ion binding	p.C214C(1)		breast(1)|endometrium(4)|large_intestine(1)|lung(2)|prostate(2)|skin(1)	11			OV - Ovarian serous cystadenocarcinoma(18;0.12)			GGTGGATGCTGCCCCCCTGATG	0.554												
MYF5	4617	broad.mit.edu	37	12	81112677	81112678	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr12:81112676_81112677A>AT	uc001szg.2	+	2	749_750	c.614_615A>AT	c.(613-615)gatfs	p.D205fs		NM_005593	NP_005584	P13349	MYF5_HUMAN	Homo sapiens myogenic factor 5 (MYF5), mRNA.	205					muscle cell fate commitment|positive regulation of muscle cell differentiation|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(8)|lung(15)|ovary(2)|pancreas(1)	30						TCCAGCTTGGATTGCTTATCCA	0.441												
BTBD11	121551	broad.mit.edu	37	12	107937778	107937778	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr12:107937777_107937777AC>A	uc001tmk.1	+	2	1872	c.1351_1351AC>A	c.(1351-1353)accfs	p.T451fs	BTBD11_uc009zut.1_Frame_Shift_Del_p.T451fs|BTBD11_uc001tmj.3_Frame_Shift_Del_p.T451fs	NM_001018072	NP_001018082	A6QL63	BTBDB_HUMAN	Homo sapiens BTB (POZ) domain containing 11 (BTBD11), transcript variant a, mRNA.	451						integral to membrane	DNA binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						CGGCAATGGCACCCCCCTGCA	0.577												
ASCL4	121549	broad.mit.edu	37	12	108169097	108169097	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr12:108169096_108169096AC>A	uc001tmr.3	+	0	935	c.104_104AC>A	c.(103-105)gacfs	p.D35fs		NM_203436	NP_982260	Q6XD76	ASCL4_HUMAN	Homo sapiens achaete-scute complex homolog 4 (Drosophila) (ASCL4), mRNA.	34					regulation of transcription from RNA polymerase II promoter|skin development|transcription, DNA-dependent	nucleus	DNA binding			breast(2)|central_nervous_system(1)|large_intestine(3)|lung(6)|upper_aerodigestive_tract(1)	13						CCGCGGAGGGACCCCCTCAGG	0.736												
RASAL1	8437	broad.mit.edu	37	12	113539773	113539773	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr12:113539772_113539772TC>T	uc001tun.2	-	19	2451	c.2150_2150GA>A	c.(2149-2151)gacfs	p.D717fs	RASAL1_uc010syp.2_Frame_Shift_Del_p.D716fs|RASAL1_uc001tul.3_Frame_Shift_Del_p.D687fs|RASAL1_uc001tum.2_Frame_Shift_Del_p.D715fs	NM_001193520	NP_001180449	O95294	RASL1_HUMAN	Homo sapiens RAS protein activator like 1 (GAP1 like) (RASAL1), transcript variant 1, mRNA.	715					intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity|metal ion binding|phospholipid binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(3)|prostate(2)|skin(2)	43						GTCACTCCAGTCCCCCAGGGT	0.632												
ATP12A	479	broad.mit.edu	37	13	25262564	25262565	+	Frame_Shift_Ins	INS	-	-	G	rs35191129		TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr13:25262563_25262564T>TG	uc010aaa.3	+	3	668_669	c.335_336T>TG	c.(334-336)gtgfs	p.V112fs	ATP12A_uc001upp.3_Frame_Shift_Ins_p.V112fs	NM_001185085	NP_001172014	P54707	AT12A_HUMAN	Homo sapiens ATPase, H+/K+ transporting, nongastric, alpha polypeptide (ATP12A), transcript variant 1, mRNA.	112					ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding	p.V112V(2)		breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	Esomeprazole(DB00736)|Pantoprazole(DB00213)	AAGCAGATGGTGGGGGGGTTCT	0.584												
USPL1	10208	broad.mit.edu	37	13	31211892	31211893	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr13:31211891_31211892T>TA	uc001utc.2	+	4	1311_1312	c.879_880T>TA	c.(877-882)tgtaaafs	p.C293fs	USPL1_uc001utb.3_Frame_Shift_Ins_p.C112fs|USPL1_uc001utd.2_5'UTR|USPL1_uc001ute.1_5'UTR	NM_005800	NP_005791	Q5W0Q7	USPL1_HUMAN	Homo sapiens ubiquitin specific peptidase like 1 (USPL1), mRNA.	293					ubiquitin-dependent protein catabolic process		ubiquitin thiolesterase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(15)|pancreas(3)|skin(3)	34		Lung SC(185;0.0257)|Breast(139;0.203)		all cancers(112;0.0306)|Epithelial(112;0.131)|OV - Ovarian serous cystadenocarcinoma(117;0.134)		ATGGAGATTGTAAAAAACTTAC	0.356												
SPG20	23111	broad.mit.edu	37	13	36909272	36909272	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr13:36909271_36909271CA>C	uc001uvn.3	-	2	967	c.697_697TG>G	c.(697-699)gtafs	p.V233fs	SPG20_uc010ten.2_Frame_Shift_Del_p.V233fs|SPG20_uc001uvm.3_Frame_Shift_Del_p.V233fs|SPG20_uc001uvo.3_Frame_Shift_Del_p.V233fs|SPG20_uc001uvq.3_Frame_Shift_Del_p.V233fs|SPG20_uc001uvp.2_Frame_Shift_Del_p.V233fs	NM_001142296	NP_055902	Q8N0X7	SPG20_HUMAN	Homo sapiens spastic paraplegia 20 (Troyer syndrome) (SPG20), transcript variant 2, mRNA.	233					cell death	cytoplasm	ubiquitin protein ligase binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	27		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;2.42e-08)|Epithelial(112;1.58e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00128)|BRCA - Breast invasive adenocarcinoma(63;0.0125)|GBM - Glioblastoma multiforme(144;0.026)		GCAGGATTTACAAAAAAAATC	0.438												
HTR2A	3356	broad.mit.edu	37	13	47409099	47409100	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr13:47409098_47409099C>CT	uc010acr.3	-	3	1978_1979	c.1289_1290G>AG	c.(1288-1290)aagfs	p.K430fs	HTR2A_uc001vbr.3_Frame_Shift_Ins_p.K346fs	NM_000621	NP_000612	P28223	5HT2A_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 2A (HTR2A), transcript variant 1, mRNA.	430					ERK1 and ERK2 cascade|phosphatidylinositol 3-kinase cascade|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission	integral to plasma membrane	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|serotonin binding|serotonin receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36		all_lung(13;7.2e-10)|Lung NSC(96;3.77e-07)|Breast(56;2.06e-05)|Prostate(109;0.00116)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|Myeloproliferative disorder(33;0.0333)		GBM - Glioblastoma multiforme(144;4.67e-05)|COAD - Colon adenocarcinoma(199;0.224)	Aripiprazole(DB01238)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cisapride(DB00604)|Clomipramine(DB01242)|Clozapine(DB00363)|Cyclobenzaprine(DB00924)|Cyproheptadine(DB00434)|Dihydroergotamine(DB00320)|Donepezil(DB00843)|Epinastine(DB00751)|Ergotamine(DB00696)|Fluvoxamine(DB00176)|Mesoridazine(DB00933)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Olanzapine(DB00334)|Paliperidone(DB01267)|Paroxetine(DB00715)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)	GCTTTGAATTCTTTTTTTGTCC	0.401												
SETDB2	83852	broad.mit.edu	37	13	50065970	50065970	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr13:50065969_50065969GA>G	uc001vcz.3	+	14	3050	c.2144_2144GA>G	c.(2143-2145)agafs	p.R715fs	SETDB2_uc001vda.3_Frame_Shift_Del_p.R703fs	NM_031915	NP_114121	Q96T68	SETB2_HUMAN	Homo sapiens SET domain, bifurcated 2 (SETDB2), transcript variant 1, mRNA.	715					cell division|chromosome segregation|heart looping|left/right axis specification|mitosis|negative regulation of transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone methyltransferase activity (H3-K9 specific)|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	15		Lung NSC(96;0.000408)|Breast(56;0.00131)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;3.1e-09)		AATAAATGTAGAAAAAAAATA	0.373												
VPS36	51028	broad.mit.edu	37	13	52989994	52989994	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr13:52989993_52989993TA>T	uc001vgs.3	-	13	1167	c.1133_1133TA>A	c.(1132-1134)tacfs	p.Y378fs	VPS36_uc001vgq.3_Frame_Shift_Del_p.Y320fs	NM_016075	NP_057159	Q86VN1	VPS36_HUMAN	Homo sapiens vacuolar protein sorting 36 homolog (S. cerevisiae) (VPS36), mRNA.	378					cellular membrane organization|endosome transport|protein transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|late endosome|membrane|nucleus	lipid binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	17		Breast(56;0.000207)|Lung NSC(96;0.00212)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.14e-08)		TAAATTTGGGTAAAAACGCAG	0.393												
ABCC4	10257	broad.mit.edu	37	13	95735432	95735432	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr13:95735431_95735431CA>C	uc001vmd.4	-	20	2768	c.2649_2649TG>G	c.(2647-2649)ttgfs	p.L883fs	ABCC4_uc010afk.3_Frame_Shift_Del_p.L836fs	NM_005845	NP_005836	O15439	MRP4_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 4 (ABCC4), transcript variant 1, mRNA.	883	ABC transmembrane type-1 2.				platelet activation|platelet degranulation	integral to membrane|membrane fraction|plasma membrane|platelet dense granule membrane	15-hydroxyprostaglandin dehydrogenase (NAD+) activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|chloride channel activity			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43	all_neural(89;0.0878)|Medulloblastoma(90;0.163)				Cefazolin(DB01327)	TTGACGTTTCCAAAAAATATC	0.438												
OR4K1	79544	broad.mit.edu	37	14	20403904	20403904	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr14:20403903_20403903CT>C	uc001vwj.2	+	0	137	c.78_78CT>C	c.(76-78)ttcfs	p.F26fs		NM_001004063	NP_001004063	Q8NGD4	OR4K1_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 1 (OR4K1), mRNA.	26					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F26L(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(24)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00124)		TTCAACTTTTCTTTTTTGCCA	0.368												
RNF31	55072	broad.mit.edu	37	14	24620009	24620009	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr14:24620008_24620008GC>G	uc001wmn.1	+	7	1648	c.1399_1399GC>G	c.(1399-1401)gccfs	p.A467fs	RNF31_uc001wml.1_Frame_Shift_Del_p.A316fs|RNF31_uc001wmm.1_Intron|RNF31_uc010alg.1_Frame_Shift_Del_p.A282fs|RNF31_uc001wmo.1_5'Flank|RNF31_uc001wmp.3_5'Flank	NM_017999	NP_060469	Q96EP0	RNF31_HUMAN	Homo sapiens ring finger protein 31 (RNF31), mRNA.	467	Polyubiquitin-binding.				CD40 signaling pathway|T cell receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein linear polyubiquitination	CD40 receptor complex|LUBAC complex|internal side of plasma membrane	ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(4)|skin(2)|soft_tissue(1)	39				GBM - Glioblastoma multiforme(265;0.00861)		ACGCCTTAGTGCCCCCCTGCC	0.622												
LTB4R	1241	broad.mit.edu	37	14	24784882	24784882	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr14:24784881_24784881AC>A	uc001wou.3	+	1	356	c.24_24AC>A	c.(22-24)gcafs	p.A8fs	LTB4R_uc001wos.3_Frame_Shift_Del_p.A8fs|LTB4R_uc010alp.3_Frame_Shift_Del_p.A8fs|LTB4R_uc021rrq.1_Frame_Shift_Del_p.A8fs	NM_181657	NP_858043	Q15722	LT4R1_HUMAN	Homo sapiens leukotriene B4 receptor (LTB4R), transcript variant 1, mRNA.	8					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cellular component movement|immune response|inflammatory response|muscle contraction	integral to plasma membrane	nucleotide binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|stomach(1)	8				GBM - Glioblastoma multiforme(265;0.018)		CTTCTGCAGCACCCCCCTCAC	0.587												
POLE2	5427	broad.mit.edu	37	14	50121545	50121545	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr14:50121544_50121544GT>G	uc001wwu.3	-	12	1208	c.1031_1031AC>C	c.(1030-1032)actfs	p.T344fs	NEMF_uc010anj.1_Intron|POLE2_uc010ann.3_Frame_Shift_Del_p.T59fs|POLE2_uc021rsr.1_Frame_Shift_Del_p.T318fs|POLE2_uc010ano.3_Frame_Shift_Del_p.T344fs	NM_002692	NP_002683	P56282	DPOE2_HUMAN	Homo sapiens polymerase (DNA directed), epsilon 2 (p59 subunit) (POLE2), transcript variant 1, mRNA.	344					DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	DNA binding|DNA-directed DNA polymerase activity			kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	10	all_epithelial(31;0.0021)|Breast(41;0.0124)					ATCTGCCAAAGTTTTTAGGGA	0.234												
SOS2	6655	broad.mit.edu	37	14	50585067	50585068	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr14:50585066_50585067T>TG	uc001wxs.4	-	22	4092_4093	c.3994_3995A>CA	c.(3994-3996)caafs	p.Q1332fs	SOS2_uc010ans.3_Frame_Shift_Ins_p.Q167fs|SOS2_uc010tql.2_Frame_Shift_Ins_p.Q1299fs|METTL21D_uc001wxn.1_5'Flank|METTL21D_uc001wxp.1_5'Flank|METTL21D_uc001wxq.1_5'Flank|METTL21D_uc001wxo.1_5'Flank	NM_006939	NP_008870	Q07890	SOS2_HUMAN	Homo sapiens son of sevenless homolog 2 (Drosophila) (SOS2), mRNA.	1332					apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	DNA binding|Rho guanyl-nucleotide exchange factor activity|protein binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(16)|ovary(2)|skin(1)	39	all_epithelial(31;0.000822)|Breast(41;0.0065)					CTAAGGTCATTGGGGAGTTTCT	0.376												
ABCD4	5826	broad.mit.edu	37	14	74757130	74757130	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr14:74757129_74757129AG>A	uc001xpr.2	-	11	1344	c.1192_1192CT>T	c.(1192-1194)tccfs	p.S398fs	ABCD4_uc001xps.2_Frame_Shift_Del_p.S239fs|ABCD4_uc010tur.2_Frame_Shift_Del_p.S294fs|ABCD4_uc001xpu.2_Frame_Shift_Del_p.S135fs	NM_005050	NP_005041	O14678	ABCD4_HUMAN	Homo sapiens ATP-binding cassette, sub-family D (ALD), member 4 (ABCD4), transcript variant 1, mRNA.	398	ABC transporter.					ATP-binding cassette (ABC) transporter complex|integral to membrane|peroxisomal membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			cervix(2)|endometrium(3)|kidney(3)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	27				BRCA - Breast invasive adenocarcinoma(234;0.00153)		TTGTCAGAGGAGGGGGCAGAG	0.592											OREG0022800	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
YLPM1	56252	broad.mit.edu	37	14	75230947	75230948	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr14:75230946_75230947G>GC	uc001xqj.4	+	0	878_879	c.754_755G>GC	c.(754-756)gccfs	p.A252fs		NM_019589	NP_062535	P49750	YLPM1_HUMAN	Homo sapiens YLP motif containing 1 (YLPM1), mRNA.	92					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck				breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		ACCACCGTCCGCCCCCCCTGGA	0.579												
C14orf159	80017	broad.mit.edu	37	14	91691032	91691032	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr14:91691031_91691031GA>G	uc001xyw.2	+	13	2072	c.1720_1720GA>G	c.(1720-1722)gaafs	p.E574fs	C14orf159_uc001xyz.2_Frame_Shift_Del_p.E445fs|C14orf159_uc001xzb.2_Frame_Shift_Del_p.E569fs|C14orf159_uc001xyx.2_Frame_Shift_Del_p.E517fs|C14orf159_uc001xzc.2_Frame_Shift_Del_p.E569fs|C14orf159_uc001xza.2_Frame_Shift_Del_p.E574fs|C14orf159_uc001xyv.2_Frame_Shift_Del_p.E534fs|C14orf159_uc001xze.2_Frame_Shift_Del_p.E569fs	NM_001102368	NP_001095838	Q7Z3D6	CN159_HUMAN	Homo sapiens chromosome 14 open reading frame 159 (C14orf159), transcript variant 4, mRNA.	569						mitochondrion				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	21		all_cancers(154;0.0191)|all_epithelial(191;0.241)		Epithelial(152;0.141)|OV - Ovarian serous cystadenocarcinoma(161;0.207)		TTTCCAGGAAGAAAAAATGCT	0.488												
CDAN1	146059	broad.mit.edu	37	15	43023871	43023871	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr15:43023870_43023870TG>T	uc001zql.3	-	10	1804	c.1687_1687CA>A	c.(1687-1689)accfs	p.T563fs	CDAN1_uc001zqj.3_5'Flank|CDAN1_uc001zqk.3_5'UTR	NM_138477	NP_612486	Q8IWY9	CDAN1_HUMAN	Homo sapiens congenital dyserythropoietic anemia, type I (CDAN1), mRNA.	563						integral to membrane	protein binding			endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	24		all_cancers(109;5.4e-16)|all_epithelial(112;2.97e-14)|Lung NSC(122;1.75e-08)|all_lung(180;5.99e-08)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;2.49e-07)		CCTGGGAAGGTGGGGGGTGGG	0.607												
TP53BP1	7158	broad.mit.edu	37	15	43701201	43701202	+	Frame_Shift_Del	DEL	AC	AC	-			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr15:43701200_43701201GAC>G	uc001zrs.3	-	25	5627_5628	c.5479_5480GTC>C	c.(5479-5481)tctfs	p.S1827fs	TP53BP1_uc010udp.2_Frame_Shift_Del_p.S1825fs|TP53BP1_uc001zrq.4_Frame_Shift_Del_p.S1830fs|TP53BP1_uc001zrr.4_Frame_Shift_Del_p.S1832fs|TP53BP1_uc001zrp.3_Frame_Shift_Del_p.S244fs	NM_005657	NP_005648	Q12888	TP53B_HUMAN	Homo sapiens tumor protein p53 binding protein 1 (TP53BP1), transcript variant 3, mRNA.	1827	BRCT 1.				double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter	condensed chromosome kinetochore|cytoplasm|nucleoplasm	RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity|p53 binding			breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		CCAGACATGAGACACACAAGGA	0.495								Other conserved DNA damage response genes				
ATP8B4	79895	broad.mit.edu	37	15	50193368	50193368	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr15:50193367_50193367CT>C	uc001zxu.3	-	20	2353	c.2211_2211AG>G	c.(2209-2211)aagfs	p.K737fs	ATP8B4_uc010ber.3_Frame_Shift_Del_p.K610fs|ATP8B4_uc010ufd.2_Frame_Shift_Del_p.K547fs|ATP8B4_uc010ufe.2_Intron|ATP8B4_uc001zxv.1_Frame_Shift_Del_p.K35fs	NM_024837	NP_079113	Q8TF62	AT8B4_HUMAN	Homo sapiens ATPase, class I, type 8B, member 4 (ATP8B4), mRNA.	737					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			breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		CCAGCTGCTGCTTTTTTTCAC	0.358												
VPS13C	54832	broad.mit.edu	37	15	62244050	62244051	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr15:62244049_62244050A>AT	uc002agz.3	-	38	4520_4521	c.4429_4430T>AT	c.(4429-4431)attfs	p.I1477fs	VPS13C_uc002aha.3_Frame_Shift_Ins_p.I1434fs|VPS13C_uc002ahb.2_Frame_Shift_Ins_p.I1477fs|VPS13C_uc002ahc.2_Frame_Shift_Ins_p.I1434fs	NM_020821	NP_065872	Q709C8	VP13C_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog C (S. cerevisiae) (VPS13C), transcript variant 2A, mRNA.	1477					protein localization					NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						CTGCATACTAATTTTTTTTAGA	0.332												
NOX5	79400	broad.mit.edu	37	15	69331226	69331226	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr15:69331225_69331225CT>C	uc002ars.2	+	8	1441	c.1400_1400CT>C	c.(1399-1401)cctfs	p.P467fs	MIR548H4_uc021spl.1_Intron|NOX5_uc002arq.2_Frame_Shift_Del_p.P421fs|NOX5_uc002arp.2_Frame_Shift_Del_p.P449fs|NOX5_uc010bid.2_Frame_Shift_Del_p.P432fs|NOX5_uc010bie.2_Frame_Shift_Del_p.P267fs|NOX5_uc002arr.2_Frame_Shift_Del_p.P439fs|NOX5_uc010bif.2_Intron	NM_024505	NP_078781	Q96PH1	NOX5_HUMAN	Homo sapiens NADPH oxidase, EF-hand calcium binding domain 5 (NOX5), transcript variant 1, mRNA.	467	C-terminal catalytic region.|FAD-binding FR-type.				angiogenesis|cytokine secretion|cytokinesis|electron transport chain|endothelial cell proliferation|induction of apoptosis|positive regulation of reactive oxygen species metabolic process|regulation of fusion of sperm to egg plasma membrane|regulation of proton transport|superoxide anion generation	endoplasmic reticulum|integral to membrane	NADP binding|calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|hydrogen ion channel activity|superoxide-generating NADPH oxidase activity			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						AAGCGGCCCCCTTTTTTTCAC	0.542												
SCAMP2	10066	broad.mit.edu	37	15	75146364	75146364	+	Splice_Site	DEL	G	G	-			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr15:75146363_75146363TG>T	uc002azb.1	-	3	299	c.225_splice	c.e3+1	p.Q75_splice	SCAMP2_uc002aza.1_Splice_Site	NM_005697	NP_005688	O15127	SCAM2_HUMAN	Homo sapiens secretory carrier membrane protein 2 (SCAMP2), mRNA.	75					post-Golgi vesicle-mediated transport|protein transport	integral to membrane|nucleus|recycling endosome membrane|trans-Golgi network membrane	protein binding			kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	9						CAGCACTACCTGGGGGGTCGG	0.572												
ZFAND6	54469	broad.mit.edu	37	15	80423588	80423589	+	Frame_Shift_Ins	INS	-	-	A	rs15416		TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr15:80423587_80423588C>CA	uc002bfe.2	+	5	852_853	c.430_431C>CA	c.(430-432)caafs	p.Q144fs	ZFAND6_uc021srv.1_Intron|ZFAND6_uc021srw.1_Frame_Shift_Ins_p.Q144fs|ZFAND6_uc002bfg.2_Frame_Shift_Ins_p.Q132fs|ZFAND6_uc002bff.2_Frame_Shift_Ins_p.Q144fs|ZFAND6_uc021srx.1_Frame_Shift_Ins_p.Q144fs|ZFAND6_uc021sry.1_Frame_Shift_Ins_p.Q144fs|ZFAND6_uc002bfh.2_Frame_Shift_Ins_p.Q144fs|ZFAND6_uc002bfi.2_Frame_Shift_Ins_p.Q144fs	NM_019006	NP_061879	Q6FIF0	ZFAN6_HUMAN	Homo sapiens zinc finger, AN1-type domain 6 (ZFAND6), transcript variant 1, mRNA.	144							DNA binding|zinc ion binding			cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)	11						AAAACCGAAACAAAAAAAGAAT	0.342												
MCTP2	55784	broad.mit.edu	37	15	94910906	94910907	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr15:94910905_94910906T>TG	uc002btj.3	+	9	1438_1439	c.1373_1374T>TG	c.(1372-1374)ctgfs	p.L458fs	MCTP2_uc002bti.2_Frame_Shift_Ins_p.L458fs|MCTP2_uc010boj.3_Frame_Shift_Ins_p.L187fs|MCTP2_uc010bok.3_Frame_Shift_Ins_p.L458fs|MCTP2_uc002btk.4_Frame_Shift_Ins_p.L46fs|MCTP2_uc002btl.3_Frame_Shift_Ins_p.L46fs	NM_018349	NP_060819	Q6DN12	MCTP2_HUMAN	Homo sapiens multiple C2 domains, transmembrane 2 (MCTP2), transcript variant 1, mRNA.	458					calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2)	49	Lung NSC(78;0.0821)|all_lung(78;0.148)		BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)			GACAGCTGTCTGGGGGCTCTCC	0.535												
UBN1	29855	broad.mit.edu	37	16	4924298	4924300	+	In_Frame_Del	DEL	AGG	AGG	-			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr16:4924297_4924299CAGG>C	uc002cyb.3	+	14	2225_2227	c.1886_1888CAGG>C	c.(1885-1890)acagga>aCga	p.G631del	UBN1_uc010uxw.2_In_Frame_Del_p.G631del|UBN1_uc002cyc.3_In_Frame_Del_p.G631del	NM_001079514	NP_058632	Q9NPG3	UBN1_HUMAN	Homo sapiens ubinuclein 1 (UBN1), transcript variant 2, mRNA.	631					chromatin modification|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter	PML body|tight junction	DNA binding|sequence-specific DNA binding transcription factor activity	p.G630E(1)		NS(1)|endometrium(6)|kidney(4)|large_intestine(10)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						GATCACCAAACAGGAGGCCTGAG	0.542												
CPPED1	55313	broad.mit.edu	37	16	12798726	12798726	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr16:12798725_12798725GC>G	uc002dca.4	-	2	582	c.471_471GC>C	c.(469-471)ggcfs	p.G157fs	CPPED1_uc002dcb.4_Intron	NM_018340	NP_060810	Q9BRF8	CPPED_HUMAN	Homo sapiens calcineurin-like phosphoesterase domain containing 1 (CPPED1), transcript variant 1, mRNA.	157							hydrolase activity|metal ion binding	p.G156W(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|urinary_tract(1)	18						GGAACAGGACGCCCCCGACCC	0.612												
MYH11	4629	broad.mit.edu	37	16	15820795	15820797	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr16:15820794_15820796GCTT>G	uc002ddx.3	-	28	3895_3897	c.3788_3790AAGC>C	c.(3787-3792)aagctg>aCtg	p.1263_1264KL>T	MYH11_uc002ddv.3_In_Frame_Del_p.1263_1264KL>T|MYH11_uc002ddw.3_In_Frame_Del_p.1256_1257KL>T|MYH11_uc002ddy.3_In_Frame_Del_p.1256_1257KL>T|MYH11_uc010bvg.3_In_Frame_Del_p.1088_1089KL>T|MYH11_uc010bvh.3_5'Flank	NM_001040114	NP_001035203	P35749	MYH11_HUMAN	Homo sapiens myosin, heavy chain 11, smooth muscle (MYH11), transcript variant SM1B, mRNA.	1256			Missing (in AAT4).		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	ATP binding|actin binding|calmodulin binding|motor activity|structural constituent of muscle	p.K1256delK(1)|p.K1263delK(1)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						TGCGCCTCCAGCTTCTTCTTCTT	0.616			T	CBFB	AML							
TMC5	79838	broad.mit.edu	37	16	19474619	19474620	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr16:19474618_19474619G>GA	uc002dgc.4	+	6	1914_1915	c.1165_1166G>GA	c.(1165-1167)gaafs	p.E389fs	TMC5_uc010vaq.2_Frame_Shift_Ins_p.E389fs|TMC5_uc002dgb.4_Frame_Shift_Ins_p.E389fs|TMC5_uc010var.2_Frame_Shift_Ins_p.E389fs|TMC5_uc002dgd.1_Frame_Shift_Ins_p.E143fs|TMC5_uc002dge.4_Frame_Shift_Ins_p.E143fs|TMC5_uc002dgf.4_Frame_Shift_Ins_p.E72fs|TMC5_uc002dgg.4_Frame_Shift_Ins_p.E30fs	NM_001105248	NP_001098718	Q6UXY8	TMC5_HUMAN	Homo sapiens transmembrane channel-like 5 (TMC5), transcript variant 1, mRNA.	389						integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						AGTTGACAAAGAAAAAAGCAAA	0.406												
SRCAP	10847	broad.mit.edu	37	16	30736371	30736372	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr16:30736370_30736371G>GC	uc002dze.1	+	24	6010_6011	c.5625_5626G>GC	c.(5623-5628)cagcccfs	p.Q1875fs	SRCAP_uc002dzf.3_Non-coding_Transcript|SRCAP_uc002dzg.1_Frame_Shift_Ins_p.Q1670fs	NM_006662	NP_006653	Q6ZRS2	SRCAP_HUMAN	Homo sapiens Snf2-related CREBBP activator protein (SRCAP), mRNA.	1875	Pro-rich.				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			CTCGACGCCAGCCCCCCCCACC	0.569												
PRSS36	146547	broad.mit.edu	37	16	31151942	31151942	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr16:31151941_31151941AG>A	uc002ebd.3	-	12	2098	c.2039_2039CT>T	c.(2038-2040)ctgfs	p.L680fs	PRSS36_uc010vff.2_Frame_Shift_Del_p.L455fs|PRSS36_uc010vfg.2_Frame_Shift_Del_p.L675fs|PRSS36_uc010vfh.2_Intron	NM_173502	NP_775773	Q5K4E3	POLS2_HUMAN	Homo sapiens protease, serine, 36 (PRSS36), mRNA.	680	Peptidase S1 3.				proteolysis	cytoplasm|proteinaceous extracellular matrix	serine-type endopeptidase activity			kidney(2)|large_intestine(4)|lung(8)|ovary(3)	17						CAGGAGGGCCAGGGGGGGCCT	0.731												
NOB1	28987	broad.mit.edu	37	16	69782978	69782979	+	In_Frame_Ins	INS	-	-	TCC			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr16:69782977_69782978T>TTCC	uc002exs.3	-	5	585_586	c.569_570A>GGAA	c.(568-570)gaa>gGGAA	p.E190G		NM_014062	NP_054781	Q9ULX3	NOB1_HUMAN	Homo sapiens NIN1/RPN12 binding protein 1 homolog (S. cerevisiae) (NOB1), mRNA.	190	Poly-Glu.					nucleus	metal ion binding|protein binding			breast(2)|cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						ACCCGTTTTCTTCCTCCTCCTC	0.520												
WDR59	79726	broad.mit.edu	37	16	74976691	74976691	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr16:74976690_74976690AT>A	uc002fdh.1	-	6	582	c.480_480AT>T	c.(478-480)aatfs	p.N160fs	WDR59_uc002fdi.3_Frame_Shift_Del_p.N160fs|WDR59_uc021tli.1_Frame_Shift_Del_p.N139fs	NM_030581	NP_085058	Q6PJI9	WDR59_HUMAN	Homo sapiens WD repeat domain 59 (WDR59), mRNA.	160										breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)	27						GGCAGTTAGCATTTTTTTTAT	0.498												
SPIRE2	84501	broad.mit.edu	37	16	89920972	89920972	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr16:89920971_89920971AC>A	uc002foz.1	+	4	855	c.803_803AC>A	c.(802-804)aacfs	p.N268fs	SPIRE2_uc010civ.1_Frame_Shift_Del_p.N183fs|SPIRE2_uc010ciw.1_Frame_Shift_Del_p.N268fs|SPIRE2_uc002fpa.1_Frame_Shift_Del_p.N220fs|SPIRE2_uc010cix.1_Frame_Shift_Del_p.N137fs	NM_032451	NP_115827	Q8WWL2	SPIR2_HUMAN	Homo sapiens spire homolog 2 (Drosophila) (SPIRE2), mRNA.	268					transport	cytoplasm|cytoskeleton	actin binding			central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(10)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Lung NSC(15;5.15e-06)|all_lung(18;8.38e-06)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0286)		CAGGAGTTCAACCCCCTCCCC	0.637												
MIS12	79003	broad.mit.edu	37	17	5392616	5392616	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr17:5392615_5392615CA>C	uc002gce.3	+	2	986	c.433_433CA>C	c.(433-435)caafs	p.Q145fs	MIS12_uc002gcd.3_Frame_Shift_Del_p.Q145fs|MIS12_uc021tom.1_Frame_Shift_Del_p.Q145fs	NM_024039	NP_076944	Q9H081	MIS12_HUMAN	Homo sapiens MIS12, MIND kinetochore complex component, homolog (S. pombe) (MIS12), mRNA.	145					cell division|chromosome segregation|kinetochore assembly|mitotic prometaphase	MIS12/MIND type complex|cytosol|nucleus	protein binding			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(2)	12						ATTAGAAGAGCAAAAAATTGT	0.388												
CHD3	1107	broad.mit.edu	37	17	7798765	7798765	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr17:7798764_7798764AC>A	uc002gjd.2	+	9	1790	c.1788_1788AC>A	c.(1786-1788)ccafs	p.P596fs	CHD3_uc002gje.2_Frame_Shift_Del_p.P537fs|CHD3_uc002gjf.2_Frame_Shift_Del_p.P537fs|CHD3_uc002gjg.1_Frame_Shift_Del_p.P365fs	NM_001005271	NP_001005271	Q12873	CHD3_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 3 (CHD3), transcript variant 3, mRNA.	537					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	NuRD complex|microtubule organizing center	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				CAGATGTCCCACCCCCCCGTC	0.577												
PFAS	5198	broad.mit.edu	37	17	8167585	8167585	+	Frame_Shift_Del	DEL	C	C	-	rs138697840	byFrequency	TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr17:8167584_8167584GC>G	uc002gkr.3	+	15	1987	c.1846_1846GC>G	c.(1846-1848)gccfs	p.A616fs	PFAS_uc010vuv.2_Frame_Shift_Del_p.A192fs|PFAS_uc010cnw.1_Frame_Shift_Del_p.A116fs|PFAS_uc002gks.3_5'Flank	NM_012393	NP_036525	O15067	PUR4_HUMAN	Homo sapiens phosphoribosylformylglycinamidine synthase (PFAS), mRNA.	616					'de novo' IMP biosynthetic process|glutamine metabolic process|purine base metabolic process	cytosol	ATP binding|phosphoribosylformylglycinamidine synthase activity|protein binding			central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	CCAGGGGGATGCCCCCCCGAC	0.592												
ATAD5	79915	broad.mit.edu	37	17	29196630	29196630	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr17:29196629_29196629GT>G	uc002hfs.1	+	13	3915	c.3572_3572GT>G	c.(3571-3573)tgtfs	p.C1191fs	ATAD5_uc002hft.1_Frame_Shift_Del_p.C1088fs	NM_024857	NP_079133	Q96QE3	ATAD5_HUMAN	Homo sapiens ATPase family, AAA domain containing 5 (ATAD5), mRNA.	1191					response to DNA damage stimulus	nucleus	ATP binding|nucleoside-triphosphatase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)				CAAAAACCCTGTTTTTTTAAT	0.353												
RHOT1	55288	broad.mit.edu	37	17	30500897	30500898	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr17:30500896_30500897CAG>C	uc002hgw.3	+	2	382_383	c.143_144CAG>C	c.(142-144)ccafs	p.P48fs	RHOT1_uc002hgy.3_Frame_Shift_Del_p.P48fs|RHOT1_uc002hgz.3_Frame_Shift_Del_p.P48fs|RHOT1_uc002hha.3_5'UTR|RHOT1_uc010csv.3_Non-coding_Transcript|RHOT1_uc002hgx.3_5'UTR|RHOT1_uc010wby.2_Frame_Shift_Del_p.P48fs|RHOT1_uc002hhb.3_Frame_Shift_Del_p.P27fs|RHOT1_uc002hgv.3_Frame_Shift_Del_p.P48fs	NM_001033568	NP_001028740	Q8IXI2	MIRO1_HUMAN	Homo sapiens ras homolog gene family, member T1 (RHOT1), transcript variant 1, mRNA.	48	Miro 1.				apoptosis|cellular homeostasis|mitochondrion transport along microtubule|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|integral to mitochondrial outer membrane|plasma membrane	GTP binding|GTPase activity|calcium ion binding|protein binding			NS(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28		Myeloproliferative disorder(56;0.0255)|Breast(31;0.116)|Ovarian(249;0.182)				GATGTCACCCCAGAGAGAGTTC	0.356												
LIG3	3980	broad.mit.edu	37	17	33316509	33316509	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr17:33316508_33316508GC>G	uc002hik.2	+	3	844	c.715_715GC>G	c.(715-717)gccfs	p.A239fs	LIG3_uc002hii.3_Frame_Shift_Del_p.A239fs|LIG3_uc002hij.3_Frame_Shift_Del_p.A239fs|LIG3_uc010cth.1_Frame_Shift_Del_p.A248fs	NM_013975	NP_039269	P49916	DNLI3_HUMAN	Homo sapiens ligase III, DNA, ATP-dependent (LIG3), nuclear gene encoding mitochondrial protein, transcript variant alpha, mRNA.	239					DNA ligation involved in DNA repair|DNA replication|base-excision repair|cell division|reciprocal meiotic recombination|spermatogenesis	nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|protein binding|zinc ion binding			endometrium(4)|large_intestine(8)|lung(9)|ovary(3)|pancreas(2)|prostate(1)|skin(3)|stomach(1)	31		Ovarian(249;0.17)			Bleomycin(DB00290)	CTCTGGGGAAGCCCCCTCGAG	0.488								Other BER factors				
TOP2A	7153	broad.mit.edu	37	17	38562931	38562931	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr17:38562930_38562930GT>G	uc002huq.3	-	14	1908	c.1749_1749AC>C	c.(1747-1749)aacfs	p.N583fs	RARA_uc021txb.1_Intron	NM_001067	NP_001058	P11388	TOP2A_HUMAN	Homo sapiens topoisomerase (DNA) II alpha 170kDa (TOP2A), mRNA.	583					DNA ligation|DNA repair|DNA topological change|DNA-dependent DNA replication|apoptotic chromosome condensation|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|phosphatidylinositol-mediated signaling|positive regulation of apoptosis|positive regulation of retroviral genome replication|resolution of meiotic recombination intermediates|sister chromatid segregation	DNA topoisomerase complex (ATP-hydrolyzing)|cytoplasm|nucleolus|nucleoplasm|synaptonemal complex	ATP binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|chromatin binding|drug binding|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein homodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity|ubiquitin binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(9)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	39		Breast(137;0.00328)	STAD - Stomach adenocarcinoma(5;0.00183)		Amsacrine(DB00276)|Ciprofloxacin(DB00537)|Dexrazoxane(DB00380)|Doxorubicin(DB00997)|Enoxacin(DB00467)|Epirubicin(DB00445)|Etoposide(DB00773)|Fleroxacin(DB04576)|Gatifloxacin(DB01044)|Idarubicin(DB01177)|Levofloxacin(DB01137)|Lomefloxacin(DB00978)|Lucanthone(DB04967)|Mitoxantrone(DB01204)|Moxifloxacin(DB00218)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Pefloxacin(DB00487)|Podofilox(DB01179)|Sparfloxacin(DB01208)|Teniposide(DB00444)|Trovafloxacin(DB00685)|Valrubicin(DB00385)	TTTCTTGCTTGTTTTTAGATA	0.378												
KRT15	3866	broad.mit.edu	37	17	39674981	39674981	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr17:39674980_39674980TC>T	uc002hwy.3	-	0	291	c.100_100GA>A	c.(100-102)agtfs	p.S34fs	KRT15_uc002hwz.3_5'UTR|KRT15_uc002hxa.3_5'UTR|KRT15_uc002hxb.1_Intron	NM_002275	NP_002266	P19012	K1C15_HUMAN	Homo sapiens keratin 15 (KRT15), mRNA.	34	Gly-rich.|Head.				epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16		Breast(137;0.000286)				CCAGAGAGACTCCCCCCACCA	0.587												
PLEKHH3	79990	broad.mit.edu	37	17	40825491	40825491	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr17:40825490_40825490AC>A	uc002iau.2	-	4	1042	c.575_575GT>T	c.(574-576)gtgfs	p.V192fs	PLEKHH3_uc002iat.1_Non-coding_Transcript|PLEKHH3_uc002iav.2_Non-coding_Transcript|PLEKHH3_uc002iaw.2_Frame_Shift_Del_p.V192fs	NM_024927	NP_079203	Q7Z736	PKHH3_HUMAN	Homo sapiens pleckstrin homology domain containing, family H (with MyTH4 domain) member 3 (PLEKHH3), mRNA.	192	PH.				signal transduction	cytoskeleton				endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)|skin(2)	13		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.14)		CCGCAATGCCACCCCCCAGCG	0.627												
HDAC5	10014	broad.mit.edu	37	17	42157801	42157801	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr17:42157800_42157800TG>T	uc002iff.1	-	21	3129	c.2797_2797CA>A	c.(2797-2799)attfs	p.I933fs	HDAC5_uc002ifd.1_Frame_Shift_Del_p.I932fs|HDAC5_uc002ife.1_Frame_Shift_Del_p.I932fs|HDAC5_uc010czp.1_Frame_Shift_Del_p.I847fs	NM_001015053	NP_001015053	Q9UQL6	HDAC5_HUMAN	Homo sapiens histone deacetylase 5 (HDAC5), transcript variant 3, mRNA.	932	Histone deacetylase.				B cell differentiation|cellular response to insulin stimulus|chromatin remodeling|chromatin silencing|inflammatory response|negative regulation of cell migration involved in sprouting angiogenesis|negative regulation of myotube differentiation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|transcription, DNA-dependent	cytoplasm|histone deacetylase complex	NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|histone deacetylase activity (H3-K16 specific)|protein kinase C binding|repressing transcription factor binding			central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)|skin(1)	21		Breast(137;0.00637)|Prostate(33;0.0313)		BRCA - Breast invasive adenocarcinoma(366;0.118)		ACGTCTCCAATGGGGGGGTCC	0.607												
GJC1	10052	broad.mit.edu	37	17	42882090	42882091	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr17:42882089_42882090C>CG	uc002ihj.3	-	1	1607_1608	c.1096_1097G>CG	c.(1096-1098)cggfs	p.R366fs	GJC1_uc002ihk.3_Frame_Shift_Ins_p.R366fs|GJC1_uc002ihl.3_Frame_Shift_Ins_p.R366fs|GJC1_uc021tyf.1_Frame_Shift_Ins_p.R366fs	NM_005497	NP_005488	P36383	CXG1_HUMAN	Homo sapiens gap junction protein, gamma 1, 45kDa (GJC1), transcript variant 1, mRNA.	366					cellular membrane organization|gap junction assembly|muscle contraction|synaptic transmission|transport	connexon complex|integral to membrane		p.P365>?(1)		NS(1)|kidney(1)|large_intestine(5)|liver(1)|lung(10)|prostate(1)	19		Prostate(33;0.0959)				CTTCTTCTCCCGGGGACCATGA	0.559												
PLEKHM1	9842	broad.mit.edu	37	17	43522885	43522885	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr17:43522884_43522884TC>T	uc002ija.3	-	8	2959	c.2789_2789GA>A	c.(2788-2790)gatfs	p.D930fs	PLEKHM1_uc010wjm.2_Frame_Shift_Del_p.D902fs|PLEKHM1_uc002ijb.3_Frame_Shift_Del_p.D405fs|PLEKHM1_uc010wjn.1_Frame_Shift_Del_p.D879fs	NM_014798	NP_055613	Q9Y4G2	PKHM1_HUMAN	Homo sapiens pleckstrin homology domain containing, family M (with RUN domain) member 1 (PLEKHM1), transcript variant 1, mRNA.	930					intracellular signal transduction	cytoplasm	metal ion binding			breast(1)|central_nervous_system(1)|endometrium(6)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26	Renal(3;0.0405)					GCCCAGGTAATCCCCCAGGAG	0.597												
OSBPL7	114881	broad.mit.edu	37	17	45886343	45886344	+	Frame_Shift_Ins	INS	-	-	G	rs143462261		TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr17:45886342_45886343C>CG	uc002ilx.1	-	20	2387_2388	c.2184_2185G>CG	c.(2182-2187)cccgacfs	p.P728fs	OSBPL7_uc002ilw.1_Frame_Shift_Ins_p.P290fs	NM_145798	NP_665741	Q9BZF2	OSBL7_HUMAN	Homo sapiens oxysterol binding protein-like 7 (OSBPL7), transcript variant 1, mRNA.	728					lipid transport		lipid binding	p.D729fs*3(2)		autonomic_ganglia(1)|endometrium(6)|kidney(2)|large_intestine(5)|liver(2)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32						CGCTCATGGTCGGGGGGCATTG	0.619												
FTSJ3	117246	broad.mit.edu	37	17	61902414	61902416	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr17:61902413_61902415GCTT>G	uc002jbz.3	-	6	782_784	c.704_706AAGC>C	c.(703-708)aagcca>aCca	p.235_236KP>T	FTSJ3_uc002jca.3_In_Frame_Del_p.235_236KP>T|PSMC5_uc002jcb.3_5'Flank|PSMC5_uc010ddy.3_5'Flank|PSMC5_uc002jcd.3_5'Flank	NM_017647	NP_060117	Q8IY81	RRMJ3_HUMAN	Homo sapiens FtsJ homolog 3 (E. coli) (FTSJ3), mRNA.	235					RNA methylation|rRNA processing	nucleolus	methyltransferase activity|nucleic acid binding			breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	27						CACACCTTTGGCTTCTTCTTAGT	0.493												
AXIN2	8313	broad.mit.edu	37	17	63532585	63532585	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr17:63532584_63532584GC>G	uc002jfi.3	-	7	2284	c.1995_1995GC>C	c.(1993-1995)ggcfs	p.G665fs	AXIN2_uc002jfh.3_Frame_Shift_Del_p.G600fs	NM_004655	NP_004646	Q9Y2T1	AXIN2_HUMAN	Homo sapiens axin 2 (AXIN2), mRNA.	665					Wnt receptor signaling pathway involved in somitogenesis|cellular protein localization|cellular response to organic cyclic compound|dorsal/ventral axis specification|intramembranous ossification|mRNA stabilization|maintenance of DNA repeat elements|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	Axin-APC-beta-catenin-GSK3B complex|cell cortex|centrosome|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|nucleus|plasma membrane|postsynaptic density	GTPase activator activity|armadillo repeat domain binding|beta-catenin binding|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding			NS(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	34						GCCCGCTGTTGCCCCCCCACA	0.657									Oligodontia, Ectodermal Dysplasia and Colorectal Polyp syndrome			
WDR45L	56270	broad.mit.edu	37	17	80573851	80573851	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr17:80573850_80573850TC>T	uc002kfq.3	-	9	1175	c.980_980GA>A	c.(979-981)gagfs	p.E327fs	WDR45L_uc002kfr.3_Non-coding_Transcript	NM_019613	NP_062559	Q5MNZ6	WIPI3_HUMAN	Homo sapiens WDR45-like (WDR45L), mRNA.	327					autophagy|response to starvation	organelle membrane	phosphatidylinositol-3,5-bisphosphate binding			breast(2)|central_nervous_system(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	12	Breast(20;0.00106)|all_neural(118;0.0952)	all_cancers(8;0.101)|all_epithelial(8;0.198)	BRCA - Breast invasive adenocarcinoma(99;0.0262)|OV - Ovarian serous cystadenocarcinoma(97;0.0835)			TCGGATGCACTCCCCCTTGGG	0.532												
CEP192	55125	broad.mit.edu	37	18	13055922	13055923	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr18:13055921_13055922ACT>A	uc010xac.2	+	18	3412_3413	c.3332_3333ACT>A	c.(3331-3333)aacfs	p.N1111fs	CEP192_uc010dlf.1_Non-coding_Transcript|CEP192_uc010xad.2_Frame_Shift_Del_p.N636fs|CEP192_uc002kru.3_Non-coding_Transcript|CEP192_uc002krv.3_5'UTR|CEP192_uc002krs.1_Frame_Shift_Del_p.N852fs	NM_032142	NP_115518	B7ZMF0	B7ZMF0_HUMAN	Homo sapiens centrosomal protein 192kDa (CEP192), mRNA.	706										NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						ATCCAGAATAACTCTGATACAA	0.381												
NPC1	4864	broad.mit.edu	37	18	21121356	21121359	+	Frame_Shift_Del	DEL	AGAG	AGAG	-			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr18:21121355_21121358AAGAG>A	uc002kum.4	-	14	2559_2562	c.2285_2288CTCTT>T	c.(2284-2289)ctctttfs	p.L762fs	NPC1_uc010xaz.2_Frame_Shift_Del_p.L495fs|NPC1_uc010xba.1_Frame_Shift_Del_p.L607fs	NM_000271	NP_000262	O15118	NPC1_HUMAN	Homo sapiens Niemann-Pick disease, type C1 (NPC1), mRNA.	762	SSD.				autophagy|bile acid metabolic process|cholesterol efflux|cholesterol homeostasis|lysosomal transport	endoplasmic reticulum|integral to plasma membrane|late endosome membrane|lysosomal membrane|nuclear envelope|perinuclear region of cytoplasm	hedgehog receptor activity|protein binding|sterol transporter activity			breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(10)|lung(13)|ovary(2)|stomach(1)	38	all_cancers(21;0.000106)|all_epithelial(16;6.57e-07)|Lung NSC(20;0.00166)|all_lung(20;0.00536)|Colorectal(14;0.0202)|Ovarian(20;0.127)					CAATCCCGCAAAGAGAGAGAAGGT	0.529												
KLHL14	57565	broad.mit.edu	37	18	30349862	30349862	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr18:30349861_30349861CG>C	uc002kxm.1	-	1	1082	c.694_694CG>G	c.(694-696)gtgfs	p.V232fs		NM_020805	NP_065856	Q9P2G3	KLH14_HUMAN	Homo sapiens kelch-like 14 (Drosophila) (KLHL14), mRNA.	232	BACK.					cytosol|endoplasmic reticulum membrane				breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(20)|ovary(2)	31						TCCGACTCCACGGGGGGCGGC	0.647												
PIAS2	9063	broad.mit.edu	37	18	44409833	44409833	+	Splice_Site	DEL	A	A	-			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr18:44409832_44409832TA>T	uc002lck.3	-	10	1390	c.1203_splice	c.e10-1	p.G401_splice	PIAS2_uc010dnp.3_Splice_Site_p.G99_splice|PIAS2_uc010xda.2_Splice_Site_p.G99_splice|PIAS2_uc002lcl.3_Splice_Site_p.G401_splice|PIAS2_uc002lcm.3_Splice_Site_p.G401_splice	NM_004671	NP_004662	O75928	PIAS2_HUMAN	Homo sapiens protein inhibitor of activated STAT, 2 (PIAS2), transcript variant beta, mRNA.	401					androgen receptor signaling pathway|negative regulation of androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	PML body|nuclear speck	DNA binding|SUMO ligase activity|androgen receptor binding|protein binding|transcription coactivator activity|zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	22						ATAAAAAGCCTAAAAAACAAT	0.333												
ADNP2	22850	broad.mit.edu	37	18	77896426	77896426	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr18:77896425_77896425TA>T	uc002lnw.3	+	3	3584	c.3129_3129TA>T	c.(3127-3129)cctfs	p.P1043fs		NM_014913	NP_055728	Q6IQ32	ADNP2_HUMAN	Homo sapiens ADNP homeobox 2 (ADNP2), mRNA.	1043					cellular response to oxidative stress|cellular response to retinoic acid|negative regulation of cell death|neuron differentiation|positive regulation of cell growth	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|liver(1)|lung(15)|ovary(5)|prostate(2)	42		all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2)		Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164)		CATTAGATCCTAAAAAATATG	0.353												
TLE2	7089	broad.mit.edu	37	19	3028804	3028805	+	Splice_Site	INS	-	-	G			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr19:3028803_3028804T>TG	uc010dth.3	-	2	288	c.25_splice	c.e2-1	p.T9_splice	TLE2_uc002lww.3_Splice_Site_p.T9_splice|TLE2_uc010xhc.2_Splice_Site|TLE2_uc010dti.3_Splice_Site_p.T22_splice|TLE2_uc010xhd.1_Splice_Site_p.T9_splice	NM_003260	NP_003251	Q04725	TLE2_HUMAN	Homo sapiens transducin-like enhancer of split 2 (E(sp1) homolog, Drosophila) (TLE2), transcript variant 1, mRNA.	9	Gln-rich.				Wnt receptor signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|organ morphogenesis|transcription, DNA-dependent	nucleus	protein binding|transcription corepressor activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(1)	13				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)		GAGCGGGGTCTGGGGGGGGTGT	0.624												
MCOLN1	57192	broad.mit.edu	37	19	7592423	7592423	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr19:7592422_7592422TC>T	uc002mgo.3	+	4	729	c.588_588TC>T	c.(586-588)gatfs	p.D196fs	MCOLN1_uc002mgp.3_Frame_Shift_Del_p.I83fs	NM_020533	NP_065394	Q9GZU1	MCLN1_HUMAN	Homo sapiens mucolipin 1 (MCOLN1), mRNA.	196					calcium ion transport|cellular iron ion homeostasis|transferrin transport	integral to plasma membrane|late endosome membrane|lysosomal membrane	cation channel activity|iron ion transmembrane transporter activity			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						TCCAGGTGGATCCCCCCGAGC	0.642												
CPAMD8	27151	broad.mit.edu	37	19	17039884	17039885	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr19:17039883_17039884G>GC	uc002nfb.3	-	23	3185_3186	c.3153_3154C>GC	c.(3151-3156)gggcatfs	p.G1051fs		NM_015692	NP_056507	Q8IZJ3	CPMD8_HUMAN	Homo sapiens C3 and PZP-like, alpha-2-macroglobulin domain containing 8 (CPAMD8), mRNA.	1004						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity	p.H1052fs*30(2)		breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						GTGTTCTGATGCCCCCCCAGGA	0.584												
ZNF43	7594	broad.mit.edu	37	19	21992087	21992087	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr19:21992086_21992086AT>A	uc002nqj.3	-	3	883	c.753_753AT>T	c.(751-753)aatfs	p.N251fs	ZNF43_uc002nql.3_Frame_Shift_Del_p.N245fs|ZNF43_uc002nqm.3_Frame_Shift_Del_p.N245fs|ZNF43_uc010ecv.3_Frame_Shift_Del_p.N245fs|ZNF43_uc002nqk.3_Frame_Shift_Del_p.N181fs	NM_003423	NP_003414	P17038	ZNF43_HUMAN	Homo sapiens zinc finger protein 43 (ZNF43), mRNA.	251					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	51		Renal(1328;0.000219)|Hepatocellular(1079;0.121)		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)		ATCTAGTATAATTTTTTTTAT	0.348												
ZNF43	7594	broad.mit.edu	37	19	22002026	22002026	+	Splice_Site	DEL	A	A	-			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr19:22002025_22002025TA>T	uc002nqj.3	-	2	134	c.4_splice	c.e2-1	p.G2_splice	ZNF43_uc002nql.3_Splice_Site|ZNF43_uc002nqm.3_Splice_Site|ZNF43_uc010ecv.3_Splice_Site|ZNF43_uc002nqk.3_Intron	NM_003423	NP_003414	P17038	ZNF43_HUMAN	Homo sapiens zinc finger protein 43 (ZNF43), mRNA.	2					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	51		Renal(1328;0.000219)|Hepatocellular(1079;0.121)		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)		CAATGGTCCCTAAAAAAAACA	0.383												
MLL2	8085	broad.mit.edu	37	19	36210764	36210765	+	Frame_Shift_Ins	INS	-	-	C	rs60207923	by1000genomes	TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr19:36210763_36210764A>AC	uc021usv.1	+	2	514_515	c.514_515A>AC	c.(514-516)accfs	p.T172fs	MLL2_uc021usu.1_5'UTR	NM_014727	NP_055542	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 4 (MLL4), mRNA.	629					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			NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5)	366						TGTGGCTCCTACCCCCCCAAAG	0.634			"""N, F, Mis"""		"""medulloblastoma, renal"""					HNSCC(34;0.089)		
ZNF570	148268	broad.mit.edu	37	19	37976034	37976035	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr19:37976033_37976034C>CA	uc010efl.1	+	5	1796_1797	c.1677_1678C>CA	c.(1675-1680)tgcaaafs	p.C559fs	ZNF570_uc002ogk.1_Frame_Shift_Ins_p.C503fs|ZNF570_uc010xtr.1_Frame_Shift_Ins_p.C300fs	NM_144694	NP_653295	Q96NI8	ZN570_HUMAN	Homo sapiens zinc finger protein 570 (ZNF570), mRNA.	503					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(1)	27			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GTAAGGAATGCAAAAAAACCTT	0.446												
NCCRP1	342897	broad.mit.edu	37	19	39688716	39688716	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr19:39688715_39688715AC>A	uc002okq.1	+	1	379	c.360_360AC>A	c.(358-360)gcafs	p.A120fs		NM_001001414	NP_001001414	Q6ZVX7	NCRP1_HUMAN	Homo sapiens non-specific cytotoxic cell receptor protein 1 homolog (zebrafish) (NCCRP1), mRNA.	120	FBA.				protein catabolic process			p.P119Q(1)		kidney(1)|large_intestine(2)|liver(1)|lung(4)|ovary(1)|urinary_tract(1)	10						ATGAGCCAGCACCCCCTACTG	0.632												
SUPT5H	6829	broad.mit.edu	37	19	39961164	39961165	+	Splice_Site	INS	-	-	GT			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr19:39961163_39961164G>GGT	uc002olo.4	+	18	1856	c.1677_splice	c.e18+1	p.Q559_splice	SUPT5H_uc002olp.4_Splice_Site_p.Q559_splice|SUPT5H_uc002olq.4_Splice_Site_p.Q555_splice|SUPT5H_uc002oln.4_Splice_Site_p.Q559_splice|SUPT5H_uc002olr.4_Splice_Site_p.Q559_splice|SUPT5H_uc002ols.1_Splice_Site_p.Q182_splice|SUPT5H_uc010egp.1_5'Flank	NM_001111020	NP_003160	O00267	SPT5H_HUMAN	Homo sapiens suppressor of Ty 5 homolog (S. cerevisiae) (SUPT5H), transcript variant 2, mRNA.	559					cell cycle|chromatin remodeling|mRNA capping|negative regulation of transcription elongation, DNA-dependent|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription elongation from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|response to organic substance|retroviral genome replication|transcription elongation from RNA polymerase II promoter	nucleoplasm	enzyme binding|protein heterodimerization activity			breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(13)|lung(12)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	51	all_cancers(60;6.69e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;1.57e-06)|Ovarian(47;0.159)		Epithelial(26;3.9e-26)|all cancers(26;1.35e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			AGACCTTCCAGGTGTGTGTGTT	0.614												
CEACAM6	4680	broad.mit.edu	37	19	42260595	42260597	+	In_Frame_Del	DEL	TTC	TTC	-	rs147420110	byFrequency	TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr19:42260594_42260596GTTC>G	uc002orm.2	+	1	300_302	c.151_153GTTC>G	c.(151-153)gtt>G	p.V51del		NM_002483	NP_002474	P40199	CEAM6_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 6 (non-specific cross reacting antigen) (CEACAM6), mRNA.	51	Ig-like V-type.				cell-cell signaling|signal transduction	anchored to membrane|integral to plasma membrane				breast(1)|kidney(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	18				OV - Ovarian serous cystadenocarcinoma(3;0.00575)|all cancers(3;0.0352)|Epithelial(262;0.0797)		GGGGAAGGAGGTTCTTCTACTCG	0.502												
BCL3	602	broad.mit.edu	37	19	45262843	45262843	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr19:45262842_45262842GC>G	uc010xxe.2	+	8	1405	c.1335_1335GC>G	c.(1333-1335)gtgfs	p.V445fs		NM_005178	NP_005169	P20749	BCL3_HUMAN	Homo sapiens B-cell CLL/lymphoma 3 (BCL3), mRNA.	445	Pro/Ser-rich.				DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|I-kappaB kinase/NF-kappaB cascade|maintenance of protein location in nucleus|negative regulation of apoptosis|negative regulation of interleukin-8 biosynthetic process|negative regulation of transcription, DNA-dependent|positive regulation of translation|protein import into nucleus, translocation|regulation of DNA binding|regulation of NF-kappaB import into nucleus|response to UV-C|response to virus	Bcl3-Bcl10 complex|Bcl3/NF-kappaB2 complex|nucleus|perinuclear region of cytoplasm	protein binding, bridging|transcription factor binding			kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10	Lung NSC(12;0.000698)|all_lung(12;0.002)	Ovarian(192;0.0728)				GCCGGCCGGTGCCCCCCTCCC	0.677			T	IGH@	CLL							
CD3EAP	10849	broad.mit.edu	37	19	45911872	45911872	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr19:45911871_45911871GA>G	uc002pbr.1	+	2	657	c.651_651GA>G	c.(649-651)aagfs	p.K217fs	PPP1R13L_uc002pbo.3_5'Flank|PPP1R13L_uc002pbp.2_5'Flank|CD3EAP_uc002pbq.1_Frame_Shift_Del_p.K215fs|ERCC1_uc002pbt.2_3'UTR|ERCC1_uc002pbs.2_3'UTR|ERCC1_uc002pbu.2_3'UTR	NM_012099	NP_036231	O15446	RPA34_HUMAN	Homo sapiens CD3e molecule, epsilon associated protein (CD3EAP), mRNA.	215	Poly-Lys.				rRNA transcription|transmembrane receptor protein tyrosine kinase signaling pathway	RNA polymerase I transcription factor complex|chromosome	DNA-directed RNA polymerase activity	p.K215N(1)		breast(2)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	11		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0251)		AGAAGAAGAAGAAAAAAAATC	0.587												
NLRP11	204801	broad.mit.edu	37	19	56303730	56303730	+	Frame_Shift_Del	DEL	T	T	-	rs71911386		TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr19:56303729_56303729AT>A	uc010ygf.2	-	8	3162	c.2451_2451AT>T	c.(2449-2451)aatfs	p.N817fs	NLRP11_uc002qlz.3_Frame_Shift_Del_p.N664fs|NLRP11_uc002qmb.3_Frame_Shift_Del_p.N718fs|NLRP11_uc002qmc.3_Non-coding_Transcript|NLRP11_uc010ete.1_Non-coding_Transcript	NM_145007	NP_659444	P59045	NAL11_HUMAN	Homo sapiens NLR family, pyrin domain containing 11 (NLRP11), mRNA.	817							ATP binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		ACACTCCGTAATTTTTTAAGC	0.468												
CTSA	5476	broad.mit.edu	37	20	44523668	44523668	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr20:44523667_44523667AC>A	uc002xqh.3	+	10	1411	c.1037_1037AC>A	c.(1036-1038)gacfs	p.D346fs	CTSA_uc002xqj.4_Frame_Shift_Del_p.D328fs|CTSA_uc010zxi.2_Frame_Shift_Del_p.D329fs|CTSA_uc002xqi.3_Non-coding_Transcript	NM_000308	NP_001121167	P10619	PPGB_HUMAN	Homo sapiens cathepsin A (CTSA), transcript variant 1, mRNA.	328					intracellular protein transport|proteolysis	endoplasmic reticulum|lysosome|nucleus	enzyme activator activity|protein binding|serine-type carboxypeptidase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|skin(2)|urinary_tract(1)	21		Myeloproliferative disorder(115;0.0122)				GTGCGCATGGACCCCCCCTGC	0.637												
ZNF831	128611	broad.mit.edu	37	20	57766220	57766221	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr20:57766219_57766220G>GC	uc002yan.3	+	0	145_146	c.145_146G>GC	c.(145-147)gccfs	p.A49fs		NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN	Homo sapiens zinc finger protein 831 (ZNF831), mRNA.	49	Pro-rich.					intracellular	nucleic acid binding|zinc ion binding	p.T52fs*47(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					GCAGGGCCTGGCCCCCCCCACT	0.728												
COL20A1	57642	broad.mit.edu	37	20	61950424	61950424	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr20:61950423_61950423GC>G	uc011aau.2	+	21	2777	c.2677_2677GC>G	c.(2677-2679)gccfs	p.A893fs	COL20A1_uc011aav.2_Frame_Shift_Del_p.A714fs	NM_020882	NP_065933	Q9P218	COKA1_HUMAN	Homo sapiens collagen, type XX, alpha 1 (COL20A1), mRNA.	893	TSP N-terminal.				cell adhesion	collagen|extracellular space	structural molecule activity			NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2)	36	all_cancers(38;1.39e-10)					CGTCTACCCAGCCCCCCTACC	0.647												
BRWD1	54014	broad.mit.edu	37	21	40559024	40559025	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr21:40559023_40559024C>CT	uc002yxk.2	-	41	7186_7187	c.6891_6892G>AG	c.(6889-6894)aaagagfs	p.K2297fs	BRWD1_uc010goc.1_Frame_Shift_Ins_p.K940fs|BRWD1_uc021wjf.1_3'UTR	NM_018963	NP_061836	Q9NSI6	BRWD1_HUMAN	Homo sapiens bromodomain and WD repeat domain containing 1 (BRWD1), transcript variant 1, mRNA.	2297					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				TCTTCTAGCTCTTTTTCACTTT	0.356												
KRTAP10-9	386676	broad.mit.edu	37	21	46047615	46047615	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr21:46047614_46047614TC>T	uc002zfp.4	+	0	575	c.526_526TC>T	c.(526-528)tccfs	p.S176fs	TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	NM_198690	NP_941963	P60411	KR109_HUMAN	Homo sapiens keratin associated protein 10-9 (KRTAP10-9), mRNA.	176	25 X 5 AA repeats of C-C-X(3).					keratin filament				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)	9						CTGCACTTCCTCCCCCTGCCA	0.587												
PCNT	5116	broad.mit.edu	37	21	47863768	47863768	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr21:47863767_47863767TC>T	uc002zji.4	+	44	9852	c.9745_9745TC>T	c.(9745-9747)tccfs	p.S3249fs	PCNT_uc002zjj.3_Frame_Shift_Del_p.S3052fs	NM_006031	NP_006022	O95613	PCNT_HUMAN	Homo sapiens pericentrin (PCNT), mRNA.	3249					G2/M transition of mitotic cell cycle|cilium assembly	cytosol|microtubule	calmodulin binding	p.T3252fs*84(1)		NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					AACCAGAGAGTCCCCCCCAAC	0.577												
SMARCB1	6598	broad.mit.edu	37	22	24135859	24135859	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr22:24135858_24135858GC>G	uc002zyd.3	+	2	525	c.318_318GC>G	c.(316-318)gagfs	p.E106fs	SMARCB1_uc002zyg.2_Frame_Shift_Del_p.E115fs|SMARCB1_uc011ajb.1_Frame_Shift_Del_p.E106fs|SMARCB1_uc002zya.3_Frame_Shift_Del_p.E115fs|SMARCB1_uc002zyb.3_Frame_Shift_Del_p.E115fs|SMARCB1_uc002zyc.3_Frame_Shift_Del_p.E106fs|SMARCB1_uc002zye.1_Frame_Shift_Del_p.E78fs|SMARCB1_uc002zyf.1_Non-coding_Transcript|SMARCB1_uc010gue.1_Intron	NM_001007468	NP_001007469	Q12824	SNF5_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 (SMARCB1), transcript variant 2, mRNA.	115	DNA-binding (Potential).				DNA integration|cell cycle|chromatin remodeling|interspecies interaction between organisms|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|retroviral genome replication|transcription, DNA-dependent	SWI/SNF complex|nBAF complex|npBAF complex|nucleolus|nucleoplasm	p53 binding	p.?(2)		bone(4)|central_nervous_system(198)|endometrium(4)|haematopoietic_and_lymphoid_tissue(25)|kidney(3)|large_intestine(5)|liver(2)|lung(5)|meninges(5)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|soft_tissue(194)	458		Medulloblastoma(6;2.2e-09)|all_neural(6;2.73e-05)				TCAGCACAGAGCCCCCCACCT	0.532			"""D, N, F, S"""		malignant rhabdoid	malignant rhabdoid						
MN1	4330	broad.mit.edu	37	22	28196398	28196398	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr22:28196397_28196397AG>A	uc003adj.3	-	0	1090	c.135_135CT>T	c.(133-135)cctfs	p.P45fs		NM_002430	NP_002421	Q10571	MN1_HUMAN	Homo sapiens meningioma (disrupted in balanced translocation) 1 (MN1), mRNA.	45							binding	p.P45fs*8(1)|p.P44R(1)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						CCACAGGGCCAGGGGGCCCCC	0.642			T	ETV6	"""AML, meningioma"""							
DEPDC5	9681	broad.mit.edu	37	22	32272206	32272206	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr22:32272205_32272205CG>C	uc011alu.2	+	36	3961	c.3759_3759CG>C	c.(3757-3759)tacfs	p.Y1253fs	DEPDC5_uc011als.2_Frame_Shift_Del_p.Y1153fs|DEPDC5_uc003als.3_Frame_Shift_Del_p.Y1222fs|DEPDC5_uc011alv.2_Intron|DEPDC5_uc003alt.3_Frame_Shift_Del_p.Y1244fs|DEPDC5_uc003alv.3_Intron|DEPDC5_uc003alu.3_Frame_Shift_Del_p.Y671fs|DEPDC5_uc003alw.3_Frame_Shift_Del_p.Y520fs|DEPDC5_uc011alx.2_Frame_Shift_Del_p.Y70fs|DEPDC5_uc010gwk.3_Frame_Shift_Del_p.Y248fs|DEPDC5_uc011aly.2_Frame_Shift_Del_p.Y70fs	NM_001242896	NP_001229825	O75140	DEPD5_HUMAN	Homo sapiens DEP domain containing 5 (DEPDC5), transcript variant 4, mRNA.	1222					intracellular signal transduction					breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						CCTTCATCTACGGCTTCTATT	0.507												
PLXNB2	23654	broad.mit.edu	37	22	50721871	50721872	+	In_Frame_Ins	INS	-	-	GAA			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr22:50721870_50721871C>CGAA	uc003bkv.4	-	15	2667_2668	c.2574_2575G>TTCG	c.(2572-2577)atcgtg>atTTCGtg	p.V859S	PLXNB2_uc003bkt.1_5'Flank|PLXNB2_uc003bku.1_5'Flank	NM_012401	NP_036533	O15031	PLXB2_HUMAN	Homo sapiens plexin B2 (PLXNB2), mRNA.	859	IPT/TIG 1.				regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity			breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		ATCACACACACGATCCTGGCGG	0.668												
SMPX	23676	broad.mit.edu	37	X	21772423	21772424	+	Splice_Site	INS	-	-	A			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chrX:21772422_21772423T>TA	uc004daa.3	-	2	220	c.-11_splice	c.e2-1		SMPX_uc022btv.1_Splice_Site	NM_014332	NP_055147	Q9UHP9	SMPX_HUMAN	Homo sapiens small muscle protein, X-linked (SMPX), transcript variant 1, mRNA.						striated muscle contraction					breast(1)|endometrium(1)	2						GTCTTATCCCTAAAAAAACAAG	0.411												
BRWD3	254065	broad.mit.edu	37	X	79942446	79942447	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chrX:79942445_79942446G>GT	uc004edt.3	-	34	4184_4185	c.3921_3922C>AC	c.(3919-3924)aaacaafs	p.K1307fs	BRWD3_uc010nmi.2_Non-coding_Transcript|BRWD3_uc004edp.3_Frame_Shift_Ins_p.K1136fs|BRWD3_uc004edq.3_Frame_Shift_Ins_p.K903fs|BRWD3_uc010nmj.2_Frame_Shift_Ins_p.K903fs|BRWD3_uc004edr.3_Frame_Shift_Ins_p.K977fs|BRWD3_uc004eds.3_Frame_Shift_Ins_p.K903fs|BRWD3_uc004edo.3_Frame_Shift_Ins_p.K903fs|BRWD3_uc004edu.3_Frame_Shift_Ins_p.K977fs|BRWD3_uc004edv.3_Frame_Shift_Ins_p.K903fs|BRWD3_uc004edw.3_Frame_Shift_Ins_p.K903fs|BRWD3_uc004edx.3_Frame_Shift_Ins_p.K903fs|BRWD3_uc004edy.3_Frame_Shift_Ins_p.K903fs|BRWD3_uc004edz.3_Frame_Shift_Ins_p.K977fs|BRWD3_uc004eea.3_Frame_Shift_Ins_p.K977fs|BRWD3_uc004eeb.3_Frame_Shift_Ins_p.K903fs	NM_153252	NP_694984	Q6RI45	BRWD3_HUMAN	Homo sapiens bromodomain and WD repeat domain containing 3 (BRWD3), mRNA.	1307										breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						TCCTTGCATTGTTTTTTCCAAG	0.386												
