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
CPSF3L	54973	broad.mit.edu	37	1	1249291	1249291	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr1:1249291T>C	uc001aee.1	-	9	836	c.778A>G	c.(778-780)AAC>GAC	p.N260D	CPSF3L_uc009vjy.1_RNA|CPSF3L_uc001aef.1_Missense_Mutation_p.N266D|CPSF3L_uc009vjz.1_Missense_Mutation_p.N238D|CPSF3L_uc010nyj.1_Missense_Mutation_p.N231D|CPSF3L_uc001aeg.1_Missense_Mutation_p.N136D|CPSF3L_uc001aeh.1_Missense_Mutation_p.N159D|CPSF3L_uc001aei.1_Missense_Mutation_p.N162D|CPSF3L_uc001aej.1_Missense_Mutation_p.N87D|CPSF3L_uc001aek.1_Missense_Mutation_p.N2D	NM_017871	NP_060341	Q5TA45	INT11_HUMAN	cleavage and polyadenylation specific factor	260						Golgi apparatus|nucleus	hydrolase 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;6.71e-35)|OV - Ovarian serous cystadenocarcinoma(86;4.35e-21)|Colorectal(212;0.000166)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.00235)|BRCA - Breast invasive adenocarcinoma(365;0.00255)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0349)|Lung(427;0.201)		ACCTTCAGGTTCATGCGCTCC	0.622												
MXRA8	54587	broad.mit.edu	37	1	1290349	1290349	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr1:1290349C>T	uc001aew.2	-	5	693	c.662G>A	c.(661-663)CGC>CAC	p.R221H	MXRA8_uc001aex.3_Missense_Mutation_p.R221H|MXRA8_uc001aey.3_Missense_Mutation_p.R221H|MXRA8_uc010nyl.1_Missense_Mutation_p.R221H|MXRA8_uc001aez.2_Missense_Mutation_p.R120H|MXRA8_uc001afa.2_Missense_Mutation_p.R212H	NM_032348	NP_115724	Q9BRK3	MXRA8_HUMAN	matrix-remodelling associated 8 precursor	221	Ig-like V-type 2.|Extracellular (Potential).					integral to membrane					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;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		GTCCAGCAGGCGGTCCGCGCG	0.736												
MORN1	79906	broad.mit.edu	37	1	2317268	2317268	+	Missense_Mutation	SNP	C	C	T	rs147757432		TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr1:2317268C>T	uc001ajb.1	-	5	448	c.427G>A	c.(427-429)GGC>AGC	p.G143S	MORN1_uc009vld.2_Missense_Mutation_p.G119S|MORN1_uc001ajd.1_Missense_Mutation_p.G143S|MORN1_uc010nyy.1_Silent_p.T85T	NM_024848	NP_079124	Q5T089	MORN1_HUMAN	MORN repeat containing 1	143	MORN 5.									ovary(2)|central_nervous_system(1)	3	all_cancers(77;0.000194)|all_epithelial(69;9.96e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;3.3e-15)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;2.21e-37)|OV - Ovarian serous cystadenocarcinoma(86;5.01e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.00137)|BRCA - Breast invasive adenocarcinoma(365;0.00488)|STAD - Stomach adenocarcinoma(132;0.00665)|KIRC - Kidney renal clear cell carcinoma(229;0.0203)|Lung(427;0.212)		TGCCCAGGGCCGTGCCTCTTG	0.582												
MMEL1	79258	broad.mit.edu	37	1	2528129	2528129	+	Splice_Site	SNP	C	C	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr1:2528129C>A	uc001ajy.2	-	14	1487	c.1273_splice	c.e14-1	p.A425_splice	MMEL1_uc009vlg.1_Splice_Site	NM_033467	NP_258428	Q495T6	MMEL1_HUMAN	membrane metallo-endopeptidase-like 1						proteolysis	extracellular region|integral to membrane|intracellular membrane-bounded organelle	metal ion binding|metalloendopeptidase activity				0	all_cancers(77;0.000233)|all_epithelial(69;8.55e-05)|all_lung(157;0.0228)|Lung NSC(156;0.0402)|Ovarian(185;0.0634)	all_epithelial(116;1.03e-20)|all_lung(118;5.15e-09)|Lung NSC(185;9.02e-07)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;8.52e-23)|GBM - Glioblastoma multiforme(42;1.49e-08)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;0.000213)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00219)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.131)		CAAACAGCGCCTGGTGGGGCC	0.657												
LRRC47	57470	broad.mit.edu	37	1	3703754	3703754	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr1:3703754C>T	uc001akx.1	-	2	764	c.736G>A	c.(736-738)GTC>ATC	p.V246I		NM_020710	NP_065761	Q8N1G4	LRC47_HUMAN	leucine rich repeat containing 47	246	LRR 7.				translation		phenylalanine-tRNA ligase activity|RNA binding			large_intestine(1)|ovary(1)	2	all_cancers(77;0.0375)|Ovarian(185;0.0634)|all_lung(157;0.208)|Lung NSC(156;0.21)	all_epithelial(116;1.34e-16)|all_lung(118;2.53e-06)|Lung NSC(185;0.00028)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.0743)|Ovarian(437;0.127)		Epithelial(90;5.49e-39)|OV - Ovarian serous cystadenocarcinoma(86;1.43e-22)|GBM - Glioblastoma multiforme(42;3.69e-16)|Colorectal(212;1.21e-05)|COAD - Colon adenocarcinoma(227;5.87e-05)|Kidney(185;0.000367)|BRCA - Breast invasive adenocarcinoma(365;0.000704)|KIRC - Kidney renal clear cell carcinoma(229;0.00567)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.124)		CAGCCGCTGACCATCTTCTCC	0.602												
LRRC47	57470	broad.mit.edu	37	1	3703780	3703780	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr1:3703780A>G	uc001akx.1	-	2	738	c.710T>C	c.(709-711)CTG>CCG	p.L237P		NM_020710	NP_065761	Q8N1G4	LRC47_HUMAN	leucine rich repeat containing 47	237	LRR 7.				translation		phenylalanine-tRNA ligase activity|RNA binding			large_intestine(1)|ovary(1)	2	all_cancers(77;0.0375)|Ovarian(185;0.0634)|all_lung(157;0.208)|Lung NSC(156;0.21)	all_epithelial(116;1.34e-16)|all_lung(118;2.53e-06)|Lung NSC(185;0.00028)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.0743)|Ovarian(437;0.127)		Epithelial(90;5.49e-39)|OV - Ovarian serous cystadenocarcinoma(86;1.43e-22)|GBM - Glioblastoma multiforme(42;3.69e-16)|Colorectal(212;1.21e-05)|COAD - Colon adenocarcinoma(227;5.87e-05)|Kidney(185;0.000367)|BRCA - Breast invasive adenocarcinoma(365;0.000704)|KIRC - Kidney renal clear cell carcinoma(229;0.00567)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.124)		CTTGTCCCTCAGCTTGTTCCC	0.612												
CHD5	26038	broad.mit.edu	37	1	6208971	6208971	+	Silent	SNP	G	G	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr1:6208971G>A	uc001amb.1	-	9	1426	c.1326C>T	c.(1324-1326)TGC>TGT	p.C442C	CHD5_uc001amc.1_5'Flank	NM_015557	NP_056372	Q8TDI0	CHD5_HUMAN	chromodomain helicase DNA binding protein 5	442	PHD-type 2.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding			central_nervous_system(3)|breast(3)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)|skin(1)|pancreas(1)	12	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		GCGGGTTGAGGCAATGCAGGT	0.502												
PLEKHG5	57449	broad.mit.edu	37	1	6534577	6534577	+	Missense_Mutation	SNP	A	A	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr1:6534577A>T	uc001ano.1	-	7	642	c.541T>A	c.(541-543)TCC>ACC	p.S181T	PLEKHG5_uc001ann.1_Missense_Mutation_p.S162T|PLEKHG5_uc001anq.1_Missense_Mutation_p.S202T|PLEKHG5_uc001anp.1_Missense_Mutation_p.S202T|PLEKHG5_uc001anj.1_5'Flank|PLEKHG5_uc009vma.1_5'UTR|PLEKHG5_uc010nzr.1_Missense_Mutation_p.S194T|PLEKHG5_uc001ank.1_Missense_Mutation_p.S125T|PLEKHG5_uc009vmb.1_Missense_Mutation_p.S125T|PLEKHG5_uc001anl.1_Missense_Mutation_p.S125T|PLEKHG5_uc001anm.1_Missense_Mutation_p.S125T	NM_001042663	NP_001036128	O94827	PKHG5_HUMAN	pleckstrin homology domain containing family G	181					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)		GGTGTGTTGGACTGGTCCAGG	0.592												
SLC45A1	50651	broad.mit.edu	37	1	8384496	8384496	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr1:8384496C>T	uc001apb.2	+	1	107	c.107C>T	c.(106-108)ACA>ATA	p.T36I		NM_001080397	NP_001073866	Q9Y2W3	S45A1_HUMAN	DNB5	36					carbohydrate transport	integral to membrane	symporter activity			central_nervous_system(2)|pancreas(1)|skin(1)	4	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;1.22e-15)|all_lung(118;0.000147)|Lung NSC(185;0.000251)|Renal(390;0.000469)|Colorectal(325;0.00578)|Breast(348;0.00686)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;3.95e-66)|GBM - Glioblastoma multiforme(8;5.93e-33)|Colorectal(212;2.86e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)		GGGTCCGTGACACGACACCTC	0.682												
RERE	473	broad.mit.edu	37	1	8420006	8420006	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr1:8420006G>A	uc001ape.2	-	20	4246	c.3436C>T	c.(3436-3438)CGG>TGG	p.R1146W	RERE_uc001apf.2_Missense_Mutation_p.R1146W|RERE_uc001apd.2_Missense_Mutation_p.R592W	NM_012102	NP_036234	Q9P2R6	RERE_HUMAN	atrophin-1 like protein isoform a	1146					multicellular organismal development|NLS-bearing substrate import into nucleus	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		AGGTCTGTCCGGGCACACGAG	0.622												
TARDBP	23435	broad.mit.edu	37	1	11082567	11082567	+	Silent	SNP	C	C	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr1:11082567C>T	uc001art.2	+	6	1235	c.1101C>T	c.(1099-1101)TTC>TTT	p.F367F	TARDBP_uc010oap.1_Silent_p.F251F	NM_007375	NP_031401	Q13148	TADBP_HUMAN	TAR DNA binding protein	367	Gly-rich.				3'-UTR-mediated mRNA stabilization|cell death|mRNA processing|negative regulation by host of viral transcription|RNA splicing|transcription from RNA polymerase II promoter	nucleus	double-stranded DNA binding|mRNA 3'-UTR binding|nucleotide binding|protein binding|sequence-specific DNA binding transcription factor activity			ovary(2)	2	Ovarian(185;0.249)	Lung NSC(185;1.04e-05)|all_lung(284;1.31e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0578)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.37e-07)|COAD - Colon adenocarcinoma(227;7.38e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000299)|Kidney(185;0.000754)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)		ACCAGGCCTTCGGTTCTGGAA	0.517												
MTOR	2475	broad.mit.edu	37	1	11307756	11307756	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr1:11307756T>C	uc001asd.2	-	8	1272	c.1151A>G	c.(1150-1152)AAG>AGG	p.K384R		NM_004958	NP_004949	P42345	MTOR_HUMAN	FK506 binding protein 12-rapamycin associated	384					cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade	endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity			central_nervous_system(7)|lung(6)|ovary(6)|skin(3)|kidney(3)|large_intestine(2)|breast(2)	29						CAGCGAGTTCTTGCTATTCCT	0.498												
CLCN6	1185	broad.mit.edu	37	1	11887152	11887152	+	Missense_Mutation	SNP	G	G	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr1:11887152G>T	uc001ate.3	+	10	827	c.714G>T	c.(712-714)AAG>AAT	p.K238N	CLCN6_uc009vnf.1_Nonsense_Mutation_p.E242*|CLCN6_uc009vng.1_Intron|CLCN6_uc009vnh.1_Missense_Mutation_p.K238N|CLCN6_uc010oat.1_Intron|CLCN6_uc010oau.1_Missense_Mutation_p.K216N	NM_001286	NP_001277	P51797	CLCN6_HUMAN	chloride channel 6 isoform ClC-6a	238					cell volume homeostasis|signal transduction	endosome membrane|integral to membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity				0	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000816)|KIRC - Kidney renal clear cell carcinoma(229;0.00268)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		TCAGAGACAAGAGAGACTTTG	0.527												
VPS13D	55187	broad.mit.edu	37	1	12337111	12337111	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr1:12337111T>C	uc001atv.2	+	19	3607	c.3466T>C	c.(3466-3468)TAC>CAC	p.Y1156H	VPS13D_uc001atw.2_Missense_Mutation_p.Y1156H|VPS13D_uc001atx.2_Missense_Mutation_p.Y344H	NM_015378	NP_056193	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13D isoform 1	1156					protein localization					ovary(4)|pancreas(1)	5	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		ACAAGGAACTTACCAGTCTAC	0.378												
ZBTB17	7709	broad.mit.edu	37	1	16269901	16269901	+	Missense_Mutation	SNP	C	C	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr1:16269901C>A	uc001axl.3	-	12	1929	c.1690G>T	c.(1690-1692)GGC>TGC	p.G564C	ZBTB17_uc010obq.1_Missense_Mutation_p.G481C|ZBTB17_uc010obr.1_Missense_Mutation_p.G564C|ZBTB17_uc010obs.1_Missense_Mutation_p.G488C	NM_003443	NP_003434	Q13105	ZBT17_HUMAN	zinc finger and BTB domain containing 17	564	C2H2-type 10.				negative regulation of cell cycle	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		Colorectal(325;0.000257)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|Colorectal(212;4.12e-07)|COAD - Colon adenocarcinoma(227;2.43e-05)|BRCA - Breast invasive adenocarcinoma(304;9.97e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0649)		GACCTCTTGCCGCAGCGCTCG	0.667												
ZBTB17	7709	broad.mit.edu	37	1	16270392	16270392	+	Splice_Site	SNP	T	T	C			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr1:16270392T>C	uc001axl.3	-	10	1611	c.1372_splice	c.e10-1	p.V458_splice	ZBTB17_uc010obq.1_Splice_Site_p.V375_splice|ZBTB17_uc010obr.1_Splice_Site_p.V458_splice|ZBTB17_uc010obs.1_Splice_Site_p.V382_splice|ZBTB17_uc010obt.1_3'UTR|ZBTB17_uc010obu.1_3'UTR	NM_003443	NP_003434	Q13105	ZBT17_HUMAN	zinc finger and BTB domain containing 17						negative regulation of cell cycle	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		Colorectal(325;0.000257)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|Colorectal(212;4.12e-07)|COAD - Colon adenocarcinoma(227;2.43e-05)|BRCA - Breast invasive adenocarcinoma(304;9.97e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0649)		GTTCCCTACCTGTGCCCAGGG	0.652												
PADI3	51702	broad.mit.edu	37	1	17609341	17609341	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr1:17609341G>A	uc001bai.2	+	16	1802	c.1762G>A	c.(1762-1764)GTG>ATG	p.V588M		NM_016233	NP_057317	Q9ULW8	PADI3_HUMAN	peptidyl arginine deiminase, type III	588					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			ovary(1)|breast(1)	2		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;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	TGGACTGCAGGTGAACATGCT	0.582												
KLHDC7A	127707	broad.mit.edu	37	1	18808480	18808480	+	Silent	SNP	A	A	G			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr1:18808480A>G	uc001bax.2	+	1	1057	c.1005A>G	c.(1003-1005)CAA>CAG	p.Q335Q	KLHDC7A_uc009vpg.2_Silent_p.Q117Q	NM_152375	NP_689588	Q5VTJ3	KLD7A_HUMAN	kelch domain containing 7A	335	Kelch 1.					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)		CGGGAGGCCAAGCCGGTGACA	0.687												
TAS1R2	80834	broad.mit.edu	37	1	19166520	19166520	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr1:19166520A>G	uc001bba.1	-	6	2094	c.2093T>C	c.(2092-2094)CTG>CCG	p.L698P		NM_152232	NP_689418	Q8TE23	TS1R2_HUMAN	taste receptor, type 1, member 2 precursor	698	Helical; Name=4; (Potential).				detection of chemical stimulus involved in sensory perception of sweet taste	plasma membrane	protein heterodimerization activity|taste receptor activity			skin(2)|ovary(1)|central_nervous_system(1)	4		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	Aspartame(DB00168)	GCCCGTGGCCAGCATGCCAAT	0.557												
NBL1	4681	broad.mit.edu	37	1	19983449	19983449	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr1:19983449A>G	uc001bck.1	+	4	525	c.370A>G	c.(370-372)AAG>GAG	p.K124E	NBL1_uc009vpl.1_Missense_Mutation_p.K125E|NBL1_uc001bcj.1_Missense_Mutation_p.K160E|NBL1_uc009vpm.1_Missense_Mutation_p.K125E	NM_005380	NP_005371	P41271	NBL1_HUMAN	neuroblastoma, suppression of tumorigenicity 1 2	124						extracellular region				ovary(1)	1		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00043)|Ovarian(437;0.00373)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;5.9e-05)|Kidney(64;0.000173)|GBM - Glioblastoma multiforme(114;0.0012)|KIRC - Kidney renal clear cell carcinoma(64;0.0026)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		GGCCTGCGGCAAGGAGCCTAG	0.577												
HSPG2	3339	broad.mit.edu	37	1	22179477	22179477	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr1:22179477G>A	uc001bfj.2	-	51	6566	c.6526C>T	c.(6526-6528)CCC>TCC	p.P2176S	HSPG2_uc009vqd.2_Missense_Mutation_p.P2177S	NM_005529	NP_005520	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2 precursor	2176	Ig-like C2-type 7.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			ovary(5)|large_intestine(2)|central_nervous_system(1)|skin(1)	9		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	GCCTGCCCGGGCACCACGCAG	0.716												
E2F2	1870	broad.mit.edu	37	1	23845552	23845552	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr1:23845552T>C	uc001bhe.1	-	5	1236	c.808A>G	c.(808-810)AAG>GAG	p.K270E		NM_004091	NP_004082	Q14209	E2F2_HUMAN	E2F transcription factor 2	270	Dimerization (Potential).				G1 phase of mitotic cell cycle|transcription initiation from RNA polymerase II promoter	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			ovary(2)|skin(2)	4		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.52e-24)|Colorectal(126;6.25e-08)|COAD - Colon adenocarcinoma(152;3.42e-06)|GBM - Glioblastoma multiforme(114;8.98e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00102)|KIRC - Kidney renal clear cell carcinoma(1967;0.00366)|STAD - Stomach adenocarcinoma(196;0.0132)|READ - Rectum adenocarcinoma(331;0.0652)|Lung(427;0.0888)|LUSC - Lung squamous cell carcinoma(448;0.19)		GGAGGGGCCTTGACGGCAATC	0.557												
EIF2C1	26523	broad.mit.edu	37	1	36358858	36358858	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr1:36358858T>C	uc001bzl.2	+	4	704	c.491T>C	c.(490-492)ATG>ACG	p.M164T	EIF2C1_uc001bzk.2_Missense_Mutation_p.M89T|EIF2C1_uc009vuy.2_5'Flank	NM_012199	NP_036331	Q9UL18	AGO1_HUMAN	eukaryotic translation initiation factor 2C, 1	164					negative regulation of translation involved in gene silencing by miRNA|nuclear-transcribed mRNA catabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|micro-ribonucleoprotein complex|polysome	protein binding|RNA binding			ovary(2)|skin(1)	3		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				GATGTGGCCATGAGGCACCTG	0.562												
MRPS15	64960	broad.mit.edu	37	1	36921835	36921835	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr1:36921835G>A	uc001cas.2	-	7	753	c.589C>T	c.(589-591)CGA>TGA	p.R197*		NM_031280	NP_112570	P82914	RT15_HUMAN	mitochondrial ribosomal protein S15 precursor	197					translation	mitochondrial small ribosomal subunit|nuclear membrane	structural constituent of ribosome			ovary(1)	1		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				TGGGCTCTTCGGTAATACAGA	0.522												
CSF3R	1441	broad.mit.edu	37	1	36938264	36938264	+	Missense_Mutation	SNP	G	G	A	rs150616658		TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr1:36938264G>A	uc001caw.1	-	7	875	c.697C>T	c.(697-699)CGG>TGG	p.R233W	CSF3R_uc001cat.1_5'Flank|CSF3R_uc009vvc.1_5'Flank|CSF3R_uc001cau.1_5'Flank|CSF3R_uc001cav.1_Missense_Mutation_p.R233W|CSF3R_uc001cax.1_Missense_Mutation_p.R233W|CSF3R_uc001cay.1_Missense_Mutation_p.R233W	NM_000760	NP_000751	Q99062	CSF3R_HUMAN	colony stimulating factor 3 receptor isoform a	233	Extracellular (Potential).				cell adhesion|defense response	extracellular region|integral to plasma membrane	cytokine receptor activity			central_nervous_system(2)|ovary(1)	3		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)			Filgrastim(DB00099)|Pegfilgrastim(DB00019)	TCCATGGTCCGCAGCATGGGG	0.627												
MACF1	23499	broad.mit.edu	37	1	39844153	39844153	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr1:39844153G>T	uc010oiu.1	+	17	8685	c.8554G>T	c.(8554-8556)GGA>TGA	p.G2852*	MACF1_uc010ois.1_Nonsense_Mutation_p.G2350*|MACF1_uc001cda.1_Intron|MACF1_uc001cdc.1_Intron	NM_033044	NP_149033	Q9UPN3	MACF1_HUMAN	microfilament and actin filament cross-linker	4417				SILPSVG -> EYRLFKI (in Ref. 5; BAA86565).	cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			ovary(8)|breast(3)|central_nervous_system(3)|skin(2)	16	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GCCCTCTGTAGGAAGCTCTGT	0.468												
KIAA0754	643314	broad.mit.edu	37	1	39876405	39876405	+	Silent	SNP	A	A	G			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr1:39876405A>G	uc009vvt.1	+	1	1230	c.468A>G	c.(466-468)TCA>TCG	p.S156S	MACF1_uc010ois.1_Intron|MACF1_uc001cda.1_Intron|MACF1_uc001cdc.1_Intron|MACF1_uc010oiu.1_Intron	NM_015038	NP_055853	O94854	K0754_HUMAN	hypothetical protein LOC643314	20											0	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GTGAGGTTTCAGAAGCTGGTG	0.463												
HPCAL4	51440	broad.mit.edu	37	1	40149624	40149624	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr1:40149624C>T	uc001cdr.2	-	3	483	c.363G>A	c.(361-363)ATG>ATA	p.M121I	HPCAL4_uc010oix.1_Intron	NM_016257	NP_057341	Q9UM19	HPCL4_HUMAN	hippocalcin-like protein 4	121	EF-hand 3.				central nervous system development	intracellular	calcium ion binding			central_nervous_system(1)	1	all_cancers(7;4.65e-13)|Lung NSC(20;2.88e-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;1.87e-18)|Epithelial(16;4.3e-17)|all cancers(16;8.48e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			TGATCTCCAGCATCTCCAGGC	0.701												
TRIT1	54802	broad.mit.edu	37	1	40309854	40309854	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr1:40309854A>G	uc010oiz.1	-	10	1167	c.1153T>C	c.(1153-1155)TAC>CAC	p.Y385H	TRIT1_uc001cec.3_RNA|TRIT1_uc001ced.3_Missense_Mutation_p.Y81H|TRIT1_uc001cee.3_RNA|TRIT1_uc001cef.3_RNA|TRIT1_uc001ceg.3_Missense_Mutation_p.Y139H|TRIT1_uc001ceh.3_Missense_Mutation_p.Y139H|TRIT1_uc009vvv.2_Missense_Mutation_p.Y218H|TRIT1_uc001cei.3_Missense_Mutation_p.Y139H|TRIT1_uc001ceq.2_Missense_Mutation_p.Y81H|TRIT1_uc001cek.2_Missense_Mutation_p.Y81H|TRIT1_uc009vvx.2_RNA|TRIT1_uc001cel.2_Intron|TRIT1_uc001cem.2_Missense_Mutation_p.Y303H|TRIT1_uc001cen.2_Missense_Mutation_p.Y139H|TRIT1_uc001ceo.2_Missense_Mutation_p.Y139H|TRIT1_uc001cep.2_Missense_Mutation_p.Y139H	NM_017646	NP_060116	Q9H3H1	MOD5_HUMAN	tRNA isopentenyltransferase 1 precursor	385					tRNA processing	mitochondrion	ATP binding|metal ion binding|tRNA dimethylallyltransferase activity			ovary(1)	1	all_cancers(7;4.55e-14)|all_lung(5;1.23e-16)|all_epithelial(6;2.17e-16)|Lung NSC(20;7.03e-07)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;3.29e-18)|Epithelial(16;3.07e-17)|all cancers(16;6.21e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			GCTTCATTGTATGGCATCTTT	0.448												
ZNF642	339559	broad.mit.edu	37	1	40961584	40961584	+	Silent	SNP	T	T	C			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr1:40961584T>C	uc001cfo.2	+	6	1728	c.1434T>C	c.(1432-1434)CAT>CAC	p.H478H	ZNF642_uc009vwb.2_Silent_p.H478H|ZNF642_uc010ojk.1_Silent_p.H479H	NM_198494	NP_940896	Q49AA0	ZN642_HUMAN	zinc finger protein 642	478	C2H2-type 8.				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)			CCTATAGGCATGATTCATCCT	0.398												
LEPRE1	64175	broad.mit.edu	37	1	43224593	43224593	+	Silent	SNP	T	T	C			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr1:43224593T>C	uc001chv.2	-	4	983	c.870A>G	c.(868-870)CCA>CCG	p.P290P	LEPRE1_uc001chw.2_Silent_p.P290P|LEPRE1_uc001chx.3_Silent_p.P290P	NM_022356	NP_071751	Q32P28	P3H1_HUMAN	leprecan 1 isoform 1	290					negative regulation of cell proliferation	endoplasmic reticulum|proteinaceous extracellular matrix	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity			ovary(3)|lung(1)	4	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)			L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	TCTCTCGACTTGGGTGGGAAG	0.443												
ZNF691	51058	broad.mit.edu	37	1	43317265	43317265	+	Silent	SNP	C	C	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr1:43317265C>T	uc001cih.2	+	2	768	c.717C>T	c.(715-717)GGC>GGT	p.G239G	ZNF691_uc001cig.2_Silent_p.G212G|ZNF691_uc009vwm.2_Silent_p.G232G	NM_015911	NP_056995	Q5VV52	ZN691_HUMAN	zinc finger protein 691	243	C2H2-type 5.					nucleus	DNA binding|zinc ion binding			ovary(2)	2	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				CCAGCTTTGGCGTGCATCACC	0.587												
ELOVL1	64834	broad.mit.edu	37	1	43829798	43829798	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr1:43829798A>G	uc001ciz.2	-	9	872	c.629T>C	c.(628-630)GTC>GCC	p.V210A	ELOVL1_uc001cja.2_Missense_Mutation_p.V210A|ELOVL1_uc001cjb.2_Missense_Mutation_p.V210A|ELOVL1_uc001cjc.2_RNA|ELOVL1_uc010okh.1_Missense_Mutation_p.V183A	NM_022821	NP_073732	Q9BW60	ELOV1_HUMAN	elongation of very long chain fatty acids-like	210	Helical; (Potential).				fatty acid elongation, monounsaturated fatty acid|fatty acid elongation, saturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|sphingolipid biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	integral to endoplasmic reticulum membrane	fatty acid elongase activity|protein binding				0	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				TGAGACCAGGACAAACTGGAT	0.478												
KIAA0467	23334	broad.mit.edu	37	1	43896402	43896402	+	Silent	SNP	C	C	T	rs147043685		TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr1:43896402C>T	uc001cjk.1	+	17	2481	c.2019C>T	c.(2017-2019)TCC>TCT	p.S673S		NM_015284	NP_056099	Q5T011	SZT2_HUMAN	hypothetical protein LOC23334	1572						peroxisome					0	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				TCACGTGCTCCGTGCGGCTAC	0.607												
KDM4A	9682	broad.mit.edu	37	1	44163664	44163664	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr1:44163664C>T	uc001cjx.2	+	19	2987	c.2821C>T	c.(2821-2823)CTT>TTT	p.L941F	KDM4A_uc010oki.1_Intron	NM_014663	NP_055478	O75164	KDM4A_HUMAN	jumonji domain containing 2A	941	Tudor 1.				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleolus	histone demethylase activity (H3-K36 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			skin(1)	1						CAGCGACAATCTTTATCCTGA	0.488												
IPO13	9670	broad.mit.edu	37	1	44415386	44415386	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr1:44415386G>A	uc001ckx.2	+	2	1177	c.382G>A	c.(382-384)GCC>ACC	p.A128T		NM_014652	NP_055467	O94829	IPO13_HUMAN	importin 13	128					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)				CGTGGCACTGGCCTCACTGGC	0.572												
DPH2	1802	broad.mit.edu	37	1	44437275	44437275	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr1:44437275T>C	uc001ckz.2	+	4	896	c.701T>C	c.(700-702)CTG>CCG	p.L234P	DPH2_uc001cla.2_Intron|DPH2_uc010okk.1_Missense_Mutation_p.L99P|DPH2_uc001clb.2_Missense_Mutation_p.L158P	NM_001384	NP_001375	Q9BQC3	DPH2_HUMAN	diphthamide biosynthesis protein 2 isoform a	234					peptidyl-diphthamide biosynthetic process from peptidyl-histidine	cytoplasm				ovary(1)	1	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)				GACCCAGACCTGAGTCGGCTG	0.627												
B4GALT2	8704	broad.mit.edu	37	1	44447558	44447558	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr1:44447558C>T	uc001clg.2	+	3	881	c.511C>T	c.(511-513)CGG>TGG	p.R171W	B4GALT2_uc001clh.2_Missense_Mutation_p.R105W|B4GALT2_uc010okl.1_Missense_Mutation_p.R200W|B4GALT2_uc001cli.2_Missense_Mutation_p.R171W	NM_003780	NP_003771	O60909	B4GT2_HUMAN	UDP-Gal:betaGlcNAc beta 1,4-	171	Lumenal (Potential).				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity|lactose synthase activity|metal ion binding|N-acetyllactosamine synthase activity			ovary(1)|skin(1)	2	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)			N-Acetyl-D-glucosamine(DB00141)	CATCTTGAGGCGGCAGCGGCT	0.612												
DMAP1	55929	broad.mit.edu	37	1	44684858	44684858	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr1:44684858C>T	uc001clq.1	+	7	931	c.851C>T	c.(850-852)ACG>ATG	p.T284M	DMAP1_uc001clr.1_Missense_Mutation_p.T284M|DMAP1_uc001cls.1_Missense_Mutation_p.T284M|DMAP1_uc010oku.1_Missense_Mutation_p.T274M	NM_001034024	NP_001029196	Q9NPF5	DMAP1_HUMAN	DNA methyltransferase 1 associated protein 1	284					DNA methylation|histone H2A acetylation|histone H4 acetylation|negative regulation of transcription, DNA-dependent|regulation of growth|transcription, DNA-dependent	NuA4 histone acetyltransferase complex	DNA binding|protein binding				0	Acute lymphoblastic leukemia(166;0.155)					CAGCGGCGCACGGAACGCAAG	0.622												
KIF2C	11004	broad.mit.edu	37	1	45218915	45218915	+	Missense_Mutation	SNP	C	C	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr1:45218915C>A	uc001cmg.3	+	6	666	c.551C>A	c.(550-552)CCT>CAT	p.P184H	KIF2C_uc010olb.1_Intron|KIF2C_uc010olc.1_Missense_Mutation_p.P71H|KIF2C_uc001cmh.3_Missense_Mutation_p.P130H	NM_006845	NP_006836	Q99661	KIF2C_HUMAN	kinesin family member 2C	184	Globular (Potential).				blood coagulation|cell division|cell proliferation|chromosome segregation|establishment or maintenance of microtubule cytoskeleton polarity|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|kinesin complex|microtubule|nucleus	ATP binding|centromeric DNA binding|microtubule motor activity|microtubule plus-end binding			ovary(1)	1	Acute lymphoblastic leukemia(166;0.155)					TCTGCAAACCCTGTGAACTCA	0.527												
ZSWIM5	57643	broad.mit.edu	37	1	45504669	45504669	+	Silent	SNP	G	G	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr1:45504669G>A	uc001cnd.2	-	8	2061	c.1833C>T	c.(1831-1833)TGC>TGT	p.C611C		NM_020883	NP_065934	Q9P217	ZSWM5_HUMAN	zinc finger, SWIM domain containing 5	611							zinc ion binding				0	Acute lymphoblastic leukemia(166;0.155)					TGAGAAACAGGCAGTCGATGG	0.537												
GPBP1L1	60313	broad.mit.edu	37	1	46094046	46094046	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr1:46094046A>G	uc001coq.2	-	13	2668	c.1307T>C	c.(1306-1308)TTG>TCG	p.L436S	GPBP1L1_uc001coo.2_Missense_Mutation_p.L180S	NM_021639	NP_067652	Q9HC44	GPBL1_HUMAN	GC-rich promoter binding protein 1-like 1	436					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			ovary(1)	1	Acute lymphoblastic leukemia(166;0.155)					GCGGCTCTGCAAGAAGCCATT	0.443												
GPBP1L1	60313	broad.mit.edu	37	1	46095321	46095321	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr1:46095321T>C	uc001coq.2	-	12	2560	c.1199A>G	c.(1198-1200)TAT>TGT	p.Y400C	GPBP1L1_uc001coo.2_Missense_Mutation_p.Y144C	NM_021639	NP_067652	Q9HC44	GPBL1_HUMAN	GC-rich promoter binding protein 1-like 1	400					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			ovary(1)	1	Acute lymphoblastic leukemia(166;0.155)					ATTTTCAGGATATTCCTGCCA	0.443												
MAST2	23139	broad.mit.edu	37	1	46500422	46500422	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr1:46500422C>T	uc001cov.2	+	29	4364	c.4081C>T	c.(4081-4083)CGG>TGG	p.R1361W	MAST2_uc001cow.2_Missense_Mutation_p.R1360W|MAST2_uc001cpa.2_Intron	NM_015112	NP_055927	Q6P0Q8	MAST2_HUMAN	microtubule associated serine/threonine kinase	1361					regulation of interleukin-12 biosynthetic process|spermatid differentiation	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|phosphatase binding|protein serine/threonine kinase activity			ovary(5)|lung(3)|stomach(2)|breast(1)	11	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184)					TTCACCTCAGCGGTCCCCATC	0.642												
CYP4Z1	199974	broad.mit.edu	37	1	47571852	47571852	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr1:47571852C>T	uc001cqu.1	+	9	1123	c.1120C>T	c.(1120-1122)CGC>TGC	p.R374C		NM_178134	NP_835235	Q86W10	CP4Z1_HUMAN	cytochrome P450 4Z1	374	Lumenal (Potential).					endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding			skin(1)	1						GGAATGCCTCCGCCTCTACGC	0.493												
ELAVL4	1996	broad.mit.edu	37	1	50663114	50663114	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr1:50663114C>T	uc001csb.2	+	6	1016	c.748C>T	c.(748-750)CTT>TTT	p.L250F	ELAVL4_uc001cry.3_Missense_Mutation_p.L253F|ELAVL4_uc001crz.3_Missense_Mutation_p.L250F|ELAVL4_uc001csa.3_Missense_Mutation_p.L267F|ELAVL4_uc001csc.3_Missense_Mutation_p.L250F|ELAVL4_uc009vyu.2_Missense_Mutation_p.L255F|ELAVL4_uc010omz.1_Missense_Mutation_p.L255F	NM_021952	NP_068771	P26378	ELAV4_HUMAN	ELAV-like 4 isoform 1	250					mRNA processing		AU-rich element binding|mRNA 3'-UTR binding|nucleotide binding			ovary(1)|pancreas(1)	2						GGACAATTTGCTTAATATGGC	0.408												
TTC39A	22996	broad.mit.edu	37	1	51771659	51771659	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr1:51771659G>A	uc001csl.2	-	7	791	c.686C>T	c.(685-687)GCC>GTC	p.A229V	TTC39A_uc001csk.2_Missense_Mutation_p.A194V|TTC39A_uc010ond.1_Missense_Mutation_p.A166V|TTC39A_uc010one.1_Missense_Mutation_p.A193V|TTC39A_uc010onf.1_Missense_Mutation_p.A197V|TTC39A_uc001csn.2_Missense_Mutation_p.A228V|TTC39A_uc001cso.1_Missense_Mutation_p.A225V|TTC39A_uc009vyy.1_Missense_Mutation_p.A166V	NM_001080494	NP_001073963	Q5SRH9	TT39A_HUMAN	tetratricopeptide repeat domain 39A isoform 2	229							binding			skin(1)	1						CAGGTTGAAGGCCCCTACACC	0.562												
OSBPL9	114883	broad.mit.edu	37	1	52179678	52179678	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr1:52179678G>A	uc001cst.2	+	4	264	c.245G>A	c.(244-246)CGT>CAT	p.R82H	OSBPL9_uc001css.2_Missense_Mutation_p.R100H|OSBPL9_uc001csx.2_RNA|OSBPL9_uc009vza.2_Missense_Mutation_p.R83H|OSBPL9_uc001csu.2_Missense_Mutation_p.R82H|OSBPL9_uc001csv.2_Translation_Start_Site|OSBPL9_uc001csw.2_Missense_Mutation_p.R82H	NM_024586	NP_078862	Q96SU4	OSBL9_HUMAN	oxysterol binding protein-like 9 isoform e	82	PH.				lipid transport		lipid binding			central_nervous_system(1)	1						ATTCCAGCCCGTGATGCTGAT	0.328												
LRRC42	115353	broad.mit.edu	37	1	54433549	54433549	+	Silent	SNP	A	A	G			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr1:54433549A>G	uc001cwj.1	+	8	1424	c.1224A>G	c.(1222-1224)CAA>CAG	p.Q408Q	LRRC42_uc001cwl.1_Silent_p.Q408Q|LRRC42_uc001cwk.1_Silent_p.Q408Q|LRRC42_uc009vzm.1_Silent_p.Q404Q	NM_052940	NP_443172	Q9Y546	LRC42_HUMAN	leucine rich repeat containing 42	408											0						ACTCTTCACAACCTTCAAAGC	0.433												
DHCR24	1718	broad.mit.edu	37	1	55337114	55337114	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr1:55337114T>C	uc001cyc.1	-	5	914	c.785A>G	c.(784-786)CAG>CGG	p.Q262R	DHCR24_uc010ooj.1_Missense_Mutation_p.Q124R|DHCR24_uc010ook.1_Missense_Mutation_p.Q221R	NM_014762	NP_055577	Q15392	DHC24_HUMAN	24-dehydrocholesterol reductase precursor	262					anti-apoptosis|apoptosis|cell cycle arrest|cholesterol biosynthetic process|negative regulation of caspase activity|neuroprotection|response to oxidative stress|skin development	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nucleus	delta24-sterol reductase activity|enzyme binding|flavin adenine dinucleotide binding|peptide antigen binding			pancreas(1)	1						GTGGTTCTCCTGCCGCTGGGA	0.582												
USP24	23358	broad.mit.edu	37	1	55624658	55624658	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr1:55624658G>A	uc001cyg.3	-	9	784	c.784C>T	c.(784-786)CGC>TGC	p.R262C		NM_015306	NP_056121	Q9UPU5	UBP24_HUMAN	ubiquitin specific protease 24	374					ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			ovary(6)|kidney(6)|breast(1)	13						GGTTGGAAGCGCATGCAAAGT	0.378												
MYSM1	114803	broad.mit.edu	37	1	59126870	59126870	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr1:59126870C>T	uc009wab.1	-	19	2323	c.2300G>A	c.(2299-2301)CGG>CAG	p.R767Q	uc001cza.2_5'Flank|MYSM1_uc009waa.1_Missense_Mutation_p.R173Q|MYSM1_uc001czc.2_RNA	NM_001085487	NP_001078956	Q5VVJ2	MYSM1_HUMAN	Myb-like, SWIRM and MPN domains 1	767					histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin remodeling complex	DNA binding|histone binding|metal ion binding|metallopeptidase activity|transcription coactivator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			skin(1)	1	all_cancers(7;9.36e-06)					GTCAGAATCCCGGCGAAAGAT	0.363												
MIER1	57708	broad.mit.edu	37	1	67436605	67436605	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr1:67436605C>T	uc001dde.2	+	9	1021	c.887C>T	c.(886-888)GCA>GTA	p.A296V	MIER1_uc010opf.1_Missense_Mutation_p.A260V|MIER1_uc009way.2_Missense_Mutation_p.A260V|MIER1_uc001ddc.2_Missense_Mutation_p.A296V|MIER1_uc001ddh.2_Missense_Mutation_p.A180V|MIER1_uc001ddf.2_Missense_Mutation_p.A260V|MIER1_uc001ddg.2_Missense_Mutation_p.A216V|MIER1_uc010opg.1_Missense_Mutation_p.A260V|MIER1_uc001ddj.1_Missense_Mutation_p.A243V|MIER1_uc001ddi.2_Missense_Mutation_p.A243V	NM_001077700	NP_001071168	Q8N108	MIER1_HUMAN	mesoderm induction early response 1 isoform b	267	ELM2.|Interaction with HDAC1.				positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			ovary(1)	1						GGTGTAGAAGCAATTCCTGAA	0.383												
PTGER3	5733	broad.mit.edu	37	1	71512898	71512898	+	Silent	SNP	C	C	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr1:71512898C>T	uc001dfg.1	-	1	594	c.363G>A	c.(361-363)GAG>GAA	p.E121E	PTGER3_uc001dfh.1_RNA|PTGER3_uc001dfi.1_RNA|PTGER3_uc001dfj.1_RNA|PTGER3_uc001dfk.1_Silent_p.E121E|PTGER3_uc001dfl.1_Silent_p.E121E|PTGER3_uc009wbm.1_Silent_p.E121E|PTGER3_uc001dfm.1_RNA|PTGER3_uc001dfn.2_Silent_p.E121E|PTGER3_uc009wbn.1_Silent_p.E121E|PTGER3_uc009wbo.2_Silent_p.E121E|PTGER3_uc001dfo.2_Silent_p.E121E|PTGER3_uc001dfp.1_Silent_p.E121E|PTGER3_uc001dfq.2_Silent_p.E121E|uc001dfr.2_RNA	NM_198714	NP_942007	P43115	PE2R3_HUMAN	prostaglandin E receptor 3, subtype EP3 isoform	121	Extracellular (Potential).				cell death|positive regulation of fever generation|transcription, DNA-dependent	integral to plasma membrane|nuclear envelope	ligand-dependent nuclear receptor activity|prostaglandin E receptor activity			pancreas(1)|lung(1)|skin(1)	3					Bimatoprost(DB00905)	GGTCGATGTGCTCCCAACGCT	0.642												
SLC44A5	204962	broad.mit.edu	37	1	75693519	75693519	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr1:75693519A>G	uc001dgu.2	-	13	1021	c.877T>C	c.(877-879)TAC>CAC	p.Y293H	SLC44A5_uc001dgt.2_Missense_Mutation_p.Y293H|SLC44A5_uc001dgs.2_Missense_Mutation_p.Y251H|SLC44A5_uc001dgr.2_Missense_Mutation_p.Y251H|SLC44A5_uc010oqz.1_Missense_Mutation_p.Y332H|SLC44A5_uc010ora.1_Missense_Mutation_p.Y287H|SLC44A5_uc010orb.1_Missense_Mutation_p.Y163H	NM_152697	NP_689910	Q8NCS7	CTL5_HUMAN	solute carrier family 44, member 5 isoform A	293	Extracellular (Potential).					integral to membrane|plasma membrane	choline transmembrane transporter activity			ovary(2)|skin(2)	4						AGATTGGTGTACTGCTGGTAA	0.343												
ELTD1	64123	broad.mit.edu	37	1	79383320	79383320	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr1:79383320A>G	uc001diq.3	-	12	1904	c.1748T>C	c.(1747-1749)CTT>CCT	p.L583P		NM_022159	NP_071442	Q9HBW9	ELTD1_HUMAN	EGF, latrophilin and seven transmembrane domain	583	Helical; Name=5; (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			ovary(1)|skin(1)	2				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		TATACATACAAGAATGATTAG	0.274												
ELTD1	64123	broad.mit.edu	37	1	79383329	79383329	+	Missense_Mutation	SNP	A	A	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr1:79383329A>T	uc001diq.3	-	12	1895	c.1739T>A	c.(1738-1740)CTA>CAA	p.L580Q		NM_022159	NP_071442	Q9HBW9	ELTD1_HUMAN	EGF, latrophilin and seven transmembrane domain	580	Helical; Name=5; (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			ovary(1)|skin(1)	2				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		AAGAATGATTAGGCATGCTGG	0.284												
CCBL2	56267	broad.mit.edu	37	1	89408688	89408688	+	Silent	SNP	T	T	C			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr1:89408688T>C	uc001dmp.2	-	13	1679	c.1302A>G	c.(1300-1302)AAA>AAG	p.K434K	CCBL2_uc001dmq.2_Silent_p.K400K|CCBL2_uc001dmr.2_Silent_p.K270K	NM_001008661	NP_001008661	Q6YP21	KAT3_HUMAN	kynurenine aminotransferase III isoform 1	434					biosynthetic process|kynurenine metabolic process|tryptophan catabolic process		cysteine-S-conjugate beta-lyase activity|kynurenine-glyoxylate transaminase activity|kynurenine-oxoglutarate transaminase activity|pyridoxal phosphate binding			ovary(1)	1		Lung NSC(277;0.123)		all cancers(265;0.0117)|Epithelial(280;0.0341)	L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	GGGAACTTACTTTAATGAAGC	0.308												
LRRC8D	55144	broad.mit.edu	37	1	90399962	90399962	+	Silent	SNP	A	A	G			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr1:90399962A>G	uc001dnm.2	+	3	1760	c.1335A>G	c.(1333-1335)AAA>AAG	p.K445K	LRRC8D_uc001dnn.2_Silent_p.K445K	NM_001134479	NP_001127951	Q7L1W4	LRC8D_HUMAN	leucine rich repeat containing 8 family, member	445						integral to membrane	protein binding			ovary(2)	2		all_lung(203;0.0894)|Lung NSC(277;0.227)		all cancers(265;0.0109)|Epithelial(280;0.0427)		GTGAAAATAAACTTAGGGAAA	0.418												
MTF2	22823	broad.mit.edu	37	1	93602519	93602519	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr1:93602519C>T	uc009wdj.2	+	15	2009	c.1717C>T	c.(1717-1719)CGT>TGT	p.R573C	MTF2_uc010oth.1_Missense_Mutation_p.R471C|MTF2_uc009wdk.2_Missense_Mutation_p.R516C|MTF2_uc001dpi.3_Missense_Mutation_p.R300C|MTF2_uc010oti.1_Missense_Mutation_p.R471C|MTF2_uc001dpj.3_Missense_Mutation_p.R471C|MTF2_uc001dpl.3_Missense_Mutation_p.R471C|MTF2_uc001dpm.3_Missense_Mutation_p.R242C	NM_007358	NP_031384	Q9Y483	MTF2_HUMAN	metal response element binding transcription	573						nucleus	DNA binding|zinc ion binding			ovary(2)	2		all_lung(203;0.00196)|Lung NSC(277;0.00902)|Melanoma(281;0.099)|Ovarian(761;0.109)|all_neural(321;0.185)|Glioma(108;0.203)		all cancers(265;0.00076)|GBM - Glioblastoma multiforme(16;0.00157)|Epithelial(280;0.0886)		AGTTTTGGCACGTCGGGTGAC	0.443												
GCLM	2730	broad.mit.edu	37	1	94360237	94360237	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr1:94360237C>T	uc001dqg.1	-	6	881	c.588G>A	c.(586-588)ATG>ATA	p.M196I		NM_002061	NP_002052	P48507	GSH0_HUMAN	glutamate-cysteine ligase regulatory protein	196					glutamate metabolic process|glutathione biosynthetic process|regulation of blood vessel size|response to drug|response to oxidative stress|xenobiotic metabolic process	cytosol|soluble fraction	glutamate-cysteine ligase catalytic subunit binding			ovary(1)	1		all_lung(203;0.000815)|Lung NSC(277;0.00363)		all cancers(265;0.00566)|GBM - Glioblastoma multiforme(16;0.0203)|Epithelial(280;0.131)	L-Cysteine(DB00151)|L-Glutamic Acid(DB00142)	AATCTGGTGGCATCACACAGC	0.318												
PTBP2	58155	broad.mit.edu	37	1	97250755	97250755	+	Silent	SNP	A	A	G			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr1:97250755A>G	uc001drq.2	+	8	1095	c.849A>G	c.(847-849)CAA>CAG	p.Q283Q	PTBP2_uc001drn.2_Silent_p.Q283Q|PTBP2_uc001dro.2_Silent_p.Q283Q|PTBP2_uc010otz.1_Silent_p.Q294Q|PTBP2_uc001drp.2_RNA|PTBP2_uc009wdw.2_Silent_p.Q231Q|PTBP2_uc001drr.2_Silent_p.Q283Q|PTBP2_uc010oua.1_Silent_p.Q291Q|PTBP2_uc001dru.2_RNA|PTBP2_uc001drs.1_5'UTR|PTBP2_uc001drt.2_5'UTR	NM_021190	NP_067013	Q9UKA9	PTBP2_HUMAN	polypyrimidine tract binding protein 2	283							nucleotide binding				0		all_epithelial(167;2.95e-05)|all_lung(203;0.000396)|Lung NSC(277;0.00171)		all cancers(265;0.0582)|Epithelial(280;0.0716)|Colorectal(170;0.0879)|KIRC - Kidney renal clear cell carcinoma(1967;0.202)		GGGATGGACAACCTGCATTGG	0.383												
WDR47	22911	broad.mit.edu	37	1	109525279	109525279	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr1:109525279T>C	uc001dwj.2	-	12	2594	c.2218A>G	c.(2218-2220)ACC>GCC	p.T740A	WDR47_uc001dwl.2_Missense_Mutation_p.T748A|WDR47_uc001dwi.2_Missense_Mutation_p.T741A|WDR47_uc010ovf.1_Missense_Mutation_p.T665A	NM_001142551	NP_001136023	O94967	WDR47_HUMAN	WD repeat domain 47 isoform 3	740	WD 3.									ovary(1)	1		all_lung(203;0.00519)|all_epithelial(167;0.00611)|Lung NSC(277;0.00822)		Colorectal(144;0.0165)|Lung(183;0.0484)|COAD - Colon adenocarcinoma(174;0.128)|Epithelial(280;0.168)|all cancers(265;0.201)|LUSC - Lung squamous cell carcinoma(189;0.244)		TGACAATCGGTTGTATAAATG	0.413												
LIX1L	128077	broad.mit.edu	37	1	145487432	145487432	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr1:145487432A>G	uc001enr.2	+	2	495	c.421A>G	c.(421-423)ACC>GCC	p.T141A	NBPF10_uc001emp.3_Intron	NM_153713	NP_714924	Q8IVB5	LIX1L_HUMAN	Lix1 homolog (mouse) like	141										ovary(1)	1	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					CTGCTATGTCACCCTGCCTGG	0.507												
POLR3C	10623	broad.mit.edu	37	1	145606365	145606365	+	Splice_Site	SNP	T	T	C			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr1:145606365T>C	uc001eoh.2	-	5	751	c.590_splice	c.e5-1	p.G197_splice	NBPF10_uc001emp.3_Intron|POLR3C_uc001eog.2_Splice_Site_p.G210_splice|POLR3C_uc001eoi.2_Splice_Site|POLR3C_uc009wix.2_Splice_Site_p.G197_splice	NM_006468	NP_006459	Q9BUI4	RPC3_HUMAN	polymerase (RNA) III (DNA directed) polypeptide						innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|regulation of transcription from RNA polymerase III promoter|response to virus	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity			ovary(1)	1	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		Epithelial(2;7.55e-13)			TACCTTTCCCTGCCAAACAAA	0.423												
SETDB1	9869	broad.mit.edu	37	1	150923206	150923206	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr1:150923206A>G	uc001evu.2	+	13	2043	c.1853A>G	c.(1852-1854)AAC>AGC	p.N618S	SETDB1_uc009wmf.2_Missense_Mutation_p.N619S|SETDB1_uc001evv.2_Missense_Mutation_p.N618S|SETDB1_uc009wmg.1_Missense_Mutation_p.N618S	NM_001145415	NP_001138887	Q15047	SETB1_HUMAN	SET domain, bifurcated 1 isoform 1	618	MBD.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|Golgi apparatus|nucleus|plasma membrane	DNA binding|histone-lysine N-methyltransferase activity|protein binding|zinc ion binding			ovary(2)|upper_aerodigestive_tract(1)	3	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211)			CGTCGAGTTAACCGCAAGATG	0.527												
TCHH	7062	broad.mit.edu	37	1	152081227	152081227	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr1:152081227T>C	uc001ezp.2	-	2	4466	c.4466A>G	c.(4465-4467)GAG>GGG	p.E1489G	TCHH_uc009wne.1_Missense_Mutation_p.E1489G	NM_007113	NP_009044	Q07283	TRHY_HUMAN	trichohyalin	1489	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)			TTGTTCCTCCTCCAGGAATTT	0.552												
HRNR	388697	broad.mit.edu	37	1	152188012	152188012	+	Silent	SNP	T	T	C			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr1:152188012T>C	uc001ezt.1	-	3	6169	c.6093A>G	c.(6091-6093)CAA>CAG	p.Q2031Q		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	hornerin	2031	22.				keratinization		calcium ion binding|protein binding			skin(2)|ovary(1)	3	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TAGCTCCATGTTGGCCACAGC	0.562												
HRNR	388697	broad.mit.edu	37	1	152192934	152192934	+	Missense_Mutation	SNP	C	C	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr1:152192934C>A	uc001ezt.1	-	3	1247	c.1171G>T	c.(1171-1173)GGC>TGC	p.G391C		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	hornerin	391	4.				keratinization		calcium ion binding|protein binding			skin(2)|ovary(1)	3	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GAGCTGGAGCCATGTTGGCCA	0.577												
FLG2	388698	broad.mit.edu	37	1	152326514	152326514	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr1:152326514T>C	uc001ezw.3	-	3	3821	c.3748A>G	c.(3748-3750)AGC>GGC	p.S1250G	uc001ezv.2_Intron	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	filaggrin family member 2	1250	Ser-rich.						calcium ion binding|structural molecule activity			ovary(10)|skin(5)|upper_aerodigestive_tract(1)|breast(1)	17	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCAGACTGGCTATGTCTAGTG	0.473												
LCE5A	254910	broad.mit.edu	37	1	152484072	152484072	+	Missense_Mutation	SNP	C	C	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr1:152484072C>A	uc001ezy.2	+	2	238	c.62C>A	c.(61-63)CCT>CAT	p.P21H	CRCT1_uc001ezz.2_5'Flank	NM_178438	NP_848525	Q5TCM9	LCE5A_HUMAN	late cornified envelope 5A	21	Cys-rich.				keratinization					ovary(1)	1	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCTAAATGCcctcccaagtgt	0.428												
IVL	3713	broad.mit.edu	37	1	152882474	152882474	+	Silent	SNP	A	A	G			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr1:152882474A>G	uc001fau.2	+	2	247	c.201A>G	c.(199-201)GTA>GTG	p.V67V		NM_005547	NP_005538	P07476	INVO_HUMAN	involucrin	67					isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine|keratinization|response to UV-B	cornified envelope|cytoplasm	protein binding, bridging|structural molecule activity			ovary(3)	3	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			TGACTGCTGTAAAGGGACTGC	0.373												
NPR1	4881	broad.mit.edu	37	1	153657446	153657446	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr1:153657446G>A	uc001fcs.3	+	8	1912	c.1491G>A	c.(1489-1491)ATG>ATA	p.M497I	NPR1_uc010pdz.1_Missense_Mutation_p.M243I|NPR1_uc010pea.1_Missense_Mutation_p.M1I	NM_000906	NP_000897	P16066	ANPRA_HUMAN	natriuretic peptide receptor 1 precursor	497	Cytoplasmic (Potential).				body fluid secretion|intracellular signal transduction|negative regulation of angiogenesis|negative regulation of cell growth|positive regulation of renal sodium excretion|positive regulation of urine volume|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size|regulation of vascular permeability|regulation of vasodilation		ATP binding|GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|peptide receptor activity, G-protein coupled|protein kinase activity			ovary(3)|lung(2)|stomach(1)|breast(1)	7	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)		Erythrityl Tetranitrate(DB01613)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Nesiritide(DB04899)|Nitric Oxide(DB00435)|Nitroglycerin(DB00727)|Nitroprusside(DB00325)	CCAGGAAGATGCAGCTGGAGA	0.667												
CREB3L4	148327	broad.mit.edu	37	1	153946445	153946445	+	Silent	SNP	T	T	C			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr1:153946445T>C	uc001fdn.3	+	10	1358	c.1092T>C	c.(1090-1092)GAT>GAC	p.D364D	CREB3L4_uc010pef.1_Silent_p.D217D|CREB3L4_uc001fdo.3_Silent_p.D344D|CREB3L4_uc001fdm.1_Silent_p.D364D|CREB3L4_uc001fdp.1_Silent_p.D344D|CREB3L4_uc001fdr.2_Silent_p.D364D|CREB3L4_uc001fdq.2_Silent_p.D344D	NM_130898	NP_570968	Q8TEY5	CR3L4_HUMAN	cAMP responsive element binding protein 3-like	364	Lumenal (Potential).				response to unfolded protein	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1	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)			GAGCCAAGGATGCAAATGGCT	0.542												
NUP210L	91181	broad.mit.edu	37	1	154112412	154112412	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr1:154112412C>T	uc001fdw.2	-	5	655	c.583G>A	c.(583-585)GAA>AAA	p.E195K	NUP210L_uc010peh.1_Missense_Mutation_p.E195K	NM_207308	NP_997191	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like isoform 1	195						integral to membrane				skin(5)|ovary(4)|large_intestine(1)|central_nervous_system(1)	11	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			TATTCTGCTTCGGAGTATTTA	0.363												
UBAP2L	9898	broad.mit.edu	37	1	154239006	154239006	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr1:154239006G>A	uc001fep.3	+	25	3099	c.2932G>A	c.(2932-2934)GTG>ATG	p.V978M	UBAP2L_uc010pel.1_Missense_Mutation_p.V988M|UBAP2L_uc001feq.2_Missense_Mutation_p.V174M|UBAP2L_uc001fer.2_Missense_Mutation_p.V174M	NM_014847	NP_055662	Q14157	UBP2L_HUMAN	ubiquitin associated protein 2-like isoform a	978					binding of sperm to zona pellucida		protein binding			ovary(1)|central_nervous_system(1)	2	all_lung(78;1.09e-30)|Lung NSC(65;1.66e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			TAACACGGGCGTGCCAGATAT	0.517												
DCST1	149095	broad.mit.edu	37	1	155020285	155020285	+	Silent	SNP	C	C	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr1:155020285C>T	uc001fgn.1	+	15	1731	c.1635C>T	c.(1633-1635)GGC>GGT	p.G545G	DCST1_uc010pes.1_Silent_p.G520G|uc001fgo.2_Intron	NM_152494	NP_689707	Q5T197	DCST1_HUMAN	DC-STAMP domain containing 1 isoform 1	545	Extracellular (Potential).					integral to membrane	zinc ion binding			ovary(1)|skin(1)	2	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.000434)			AGCCTGTGGGCCTGGATGCCA	0.647												
TRIM46	80128	broad.mit.edu	37	1	155154563	155154563	+	Silent	SNP	C	C	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr1:155154563C>T	uc001fhs.1	+	9	1907	c.1824C>T	c.(1822-1824)GGC>GGT	p.G608G	RAG1AP1_uc010pey.1_Intron|TRIM46_uc009wpe.1_RNA|TRIM46_uc001fht.1_RNA|TRIM46_uc010pfa.1_Silent_p.G482G|TRIM46_uc001fhu.1_Silent_p.G585G|TRIM46_uc009wpg.1_Silent_p.G595G|TRIM46_uc001fhw.1_RNA	NM_025058	NP_079334	Q7Z4K8	TRI46_HUMAN	tripartite motif-containing 46	608	B30.2/SPRY.					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)			TCAAGGTGGGCGTCGGGCTGG	0.642												
HCN3	57657	broad.mit.edu	37	1	155252506	155252506	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr1:155252506C>T	uc001fjz.1	+	2	591	c.583C>T	c.(583-585)CGG>TGG	p.R195W	RAG1AP1_uc010pey.1_Intron|HCN3_uc010pfz.1_Translation_Start_Site	NM_020897	NP_065948	Q9P1Z3	HCN3_HUMAN	hyperpolarization activated cyclic	195	Extracellular (Potential).					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			ovary(1)|breast(1)	2	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			GCTGGAGCCACGGTTGGACGC	0.602												
FDPS	2224	broad.mit.edu	37	1	155282155	155282155	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr1:155282155G>A	uc001fkc.2	+	4	668	c.449G>A	c.(448-450)CGG>CAG	p.R150Q	RAG1AP1_uc010pey.1_Intron|FDPS_uc001fkd.2_Missense_Mutation_p.R84Q|FDPS_uc001fke.2_Missense_Mutation_p.R150Q|FDPS_uc001fkf.2_Missense_Mutation_p.R84Q	NM_002004	NP_001995	P14324	FPPS_HUMAN	farnesyl diphosphate synthase isoform a	150					cholesterol biosynthetic process|interspecies interaction between organisms|isoprenoid biosynthetic process	cytosol|nucleus	dimethylallyltranstransferase activity|geranyltranstransferase activity|metal ion binding				0	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)	AGTCTCCAGCGGGCCTGGACT	0.567												
ASH1L	55870	broad.mit.edu	37	1	155451338	155451338	+	Silent	SNP	A	A	G			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr1:155451338A>G	uc009wqq.2	-	3	1803	c.1323T>C	c.(1321-1323)AGT>AGC	p.S441S	ASH1L_uc001fkt.2_Silent_p.S441S|ASH1L_uc009wqr.1_Silent_p.S441S	NM_018489	NP_060959	Q9NR48	ASH1L_HUMAN	absent, small, or homeotic 1-like	441					cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			skin(5)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	11	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			TGATGTTTGTACTACAAGAAG	0.418												
LMNA	4000	broad.mit.edu	37	1	156105025	156105025	+	Silent	SNP	G	G	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr1:156105025G>A	uc001fni.2	+	5	1107	c.858G>A	c.(856-858)GGG>GGA	p.G286G	LMNA_uc001fnf.1_Silent_p.G286G|LMNA_uc001fng.2_Silent_p.G286G|LMNA_uc001fnh.2_Silent_p.G286G|LMNA_uc009wro.1_Silent_p.G286G|LMNA_uc010pgz.1_Silent_p.G174G|LMNA_uc001fnj.2_Silent_p.G205G|LMNA_uc001fnk.2_Silent_p.G187G|LMNA_uc009wrp.2_Missense_Mutation_p.G14E|LMNA_uc010pha.1_5'Flank	NM_170707	NP_733821	P02545	LMNA_HUMAN	lamin A/C isoform 1 precursor	286	Coil 2.|Rod.				cellular component disassembly involved in apoptosis|cellular response to hypoxia|establishment or maintenance of microtubule cytoskeleton polarity|muscle organ development|positive regulation of cell aging|regulation of apoptosis|regulation of cell migration	cytoplasm|lamin filament|nuclear envelope|nuclear envelope|perinuclear region of cytoplasm	protein binding|structural molecule activity|structural molecule activity			ovary(2)	2	Hepatocellular(266;0.158)					ACCTGGTGGGGGCTGCCCACG	0.637									Werner_syndrome|Hutchinson-Gilford_Progeria_Syndrome			
SMG5	23381	broad.mit.edu	37	1	156235734	156235734	+	Missense_Mutation	SNP	T	T	G			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr1:156235734T>G	uc001foc.3	-	12	1842	c.1693A>C	c.(1693-1695)AGC>CGC	p.S565R	SMG5_uc009wrv.2_Missense_Mutation_p.S50R	NM_015327	NP_056142	Q9UPR3	SMG5_HUMAN	SMG5 homolog nonsense mediated mRNA decay	565					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)					TGTAGATTGCTGGCAATGCTA	0.627												
NES	10763	broad.mit.edu	37	1	156642747	156642747	+	Silent	SNP	A	A	G			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr1:156642747A>G	uc001fpq.2	-	4	1366	c.1233T>C	c.(1231-1233)CCT>CCC	p.P411P		NM_006617	NP_006608	P48681	NEST_HUMAN	nestin	411	Tail.				brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation	cytoplasm|intermediate filament	intermediate filament binding|structural molecule activity			ovary(6)	6	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GCAGAGAGAGAGGAGCATCCT	0.652												
SH2D2A	9047	broad.mit.edu	37	1	156779193	156779193	+	Silent	SNP	G	G	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr1:156779193G>A	uc001fqd.2	-	7	944	c.804C>T	c.(802-804)CGC>CGT	p.R268R	SH2D2A_uc001fqc.1_Silent_p.R240R|SH2D2A_uc009wsh.2_Silent_p.R278R|SH2D2A_uc001fqe.2_Silent_p.R250R|SH2D2A_uc010phs.1_Silent_p.R268R	NM_003975	NP_003966	Q9NP31	SH22A_HUMAN	SH2 domain protein 2A isoform 2	268	Pro-rich.				angiogenesis|cell differentiation|signal transduction	cytoplasm|soluble fraction	SH3 domain binding|SH3/SH2 adaptor activity				0	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					GTGGGGCCGGGCGGTGTCGTG	0.632												
INSRR	3645	broad.mit.edu	37	1	156816356	156816356	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr1:156816356G>A	uc010pht.1	-	8	2019	c.1765C>T	c.(1765-1767)CAA>TAA	p.Q589*	NTRK1_uc001fqf.1_Intron|NTRK1_uc009wsi.1_Intron	NM_014215	NP_055030	P14616	INSRR_HUMAN	insulin receptor-related receptor precursor	589	Fibronectin type-III 1.				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity			lung(11)|ovary(5)|skin(2)|kidney(1)|central_nervous_system(1)	20	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					TGGGCTCCTTGATGAGGGCTG	0.597												
CD1D	912	broad.mit.edu	37	1	158152042	158152042	+	Silent	SNP	C	C	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr1:158152042C>T	uc001frr.2	+	4	1048	c.549C>T	c.(547-549)ACC>ACT	p.T183T	CD1D_uc009wsr.1_Silent_p.T183T|CD1D_uc009wss.2_Silent_p.T183T|CD1D_uc009wst.1_Silent_p.T79T	NM_001766	NP_001757	P15813	CD1D_HUMAN	CD1D antigen precursor	183	Extracellular (Potential).				antigen processing and presentation, endogenous lipid antigen via MHC class Ib|detection of bacterium|innate immune response|interspecies interaction between organisms|positive regulation of innate immune response|T cell selection	endosome membrane|integral to plasma membrane|lysosomal membrane	beta-2-microglobulin binding|exogenous lipid antigen binding|histone binding			ovary(1)	1	all_hematologic(112;0.0378)					TTAATGGCACCTGCCCCCAAT	0.547												
CD1A	909	broad.mit.edu	37	1	158226686	158226686	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr1:158226686C>T	uc001frt.2	+	4	1248	c.715C>T	c.(715-717)CGG>TGG	p.R239W		NM_001763	NP_001754	P06126	CD1A_HUMAN	CD1A antigen precursor	239	Extracellular (Potential).|Ig-like.				antigen processing and presentation|immune response	endosome membrane|integral to plasma membrane|MHC class I protein complex				pancreas(2)|skin(1)	3	all_hematologic(112;0.0378)				Antithymocyte globulin(DB00098)	GATGTGGATGCGGGGTGAGCA	0.642												
CD1B	910	broad.mit.edu	37	1	158299763	158299763	+	Missense_Mutation	SNP	G	G	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr1:158299763G>T	uc001frx.2	-	3	594	c.486C>A	c.(484-486)TTC>TTA	p.F162L	CD1B_uc001frw.2_Missense_Mutation_p.F55L	NM_001764	NP_001755	P29016	CD1B_HUMAN	CD1B antigen precursor	162	Extracellular (Potential).				antigen processing and presentation|immune response	endosome membrane|integral to membrane|lysosomal membrane|plasma membrane	protein binding			ovary(2)	2	all_hematologic(112;0.0378)					TTAGTGCACAGAATTTCTGTG	0.478												
CD1E	913	broad.mit.edu	37	1	158325868	158325868	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr1:158325868G>A	uc001fse.2	+	4	1116	c.877G>A	c.(877-879)GGG>AGG	p.G293R	CD1E_uc010pid.1_Missense_Mutation_p.G291R|CD1E_uc010pie.1_Missense_Mutation_p.G194R|CD1E_uc010pif.1_Missense_Mutation_p.G104R|CD1E_uc001fsd.2_Intron|CD1E_uc001fsk.2_Missense_Mutation_p.G203R|CD1E_uc001fsj.2_Intron|CD1E_uc001fsc.2_Missense_Mutation_p.G104R|CD1E_uc010pig.1_Intron|CD1E_uc001fsa.2_Intron|CD1E_uc001fsf.2_Missense_Mutation_p.G293R|CD1E_uc001fry.2_Intron|CD1E_uc001fsg.2_Intron|CD1E_uc001fsh.2_Missense_Mutation_p.G104R|CD1E_uc001fsi.2_Intron|CD1E_uc009wsv.2_Missense_Mutation_p.G194R|CD1E_uc001frz.2_Missense_Mutation_p.G203R|CD1E_uc009wsw.2_Missense_Mutation_p.G51R	NM_030893	NP_112155	P15812	CD1E_HUMAN	CD1E antigen isoform a precursor	293	Ig-like.				antigen processing and presentation|immune response	early endosome|Golgi membrane|integral to plasma membrane|late endosome|lysosomal lumen				skin(3)	3	all_hematologic(112;0.0378)					CAGCAGTCTAGGGGGCCATGA	0.557												
SPTA1	6708	broad.mit.edu	37	1	158581162	158581162	+	Missense_Mutation	SNP	T	T	G			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr1:158581162T>G	uc001fst.1	-	52	7351	c.7152A>C	c.(7150-7152)CAA>CAC	p.Q2384H		NM_003126	NP_003117	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	2384	EF-hand 3.				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8	all_hematologic(112;0.0378)					AGAATGACACTTGCTCTGGGG	0.443												
OR6K3	391114	broad.mit.edu	37	1	158687251	158687251	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr1:158687251T>C	uc010pip.1	-	1	703	c.703A>G	c.(703-705)AGA>GGA	p.R235G		NM_001005327	NP_001005327	Q8NGY3	OR6K3_HUMAN	olfactory receptor, family 6, subfamily K,	235	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|kidney(1)|central_nervous_system(1)	3	all_hematologic(112;0.0378)					GTGACAATTCTTACATAGGAC	0.458												
IGSF9	57549	broad.mit.edu	37	1	159900941	159900941	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr1:159900941A>G	uc001fur.2	-	13	1822	c.1624T>C	c.(1624-1626)TGG>CGG	p.W542R	IGSF9_uc001fuq.2_Missense_Mutation_p.W526R|IGSF9_uc001fup.2_5'UTR	NM_001135050	NP_001128522	Q9P2J2	TUTLA_HUMAN	immunoglobulin superfamily, member 9 isoform a	542	Fibronectin type-III 1.|Extracellular (Potential).					cell junction|integral to membrane|synapse				ovary(2)|central_nervous_system(2)|large_intestine(1)	5	all_hematologic(112;0.0597)	Breast(1374;0.000126)	BRCA - Breast invasive adenocarcinoma(70;0.111)			GGGGTGTACCAGACACTGAAT	0.532												
NOS1AP	9722	broad.mit.edu	37	1	162325131	162325131	+	Silent	SNP	C	C	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr1:162325131C>T	uc001gbv.2	+	7	1137	c.750C>T	c.(748-750)CAC>CAT	p.H250H	NOS1AP_uc010pkr.1_Silent_p.H245H|NOS1AP_uc010pks.1_RNA|NOS1AP_uc001gbw.2_Silent_p.H245H	NM_014697	NP_055512	O75052	CAPON_HUMAN	nitric oxide synthase 1 (neuronal) adaptor	250					regulation of apoptosis|regulation of nitric oxide biosynthetic process|regulation of nitric-oxide synthase activity		nitric-oxide synthase binding|PDZ domain binding			lung(2)|upper_aerodigestive_tract(1)	3	all_hematologic(112;0.203)		BRCA - Breast invasive adenocarcinoma(70;0.0537)			GAGGCTCTCACACAGGCTCCA	0.562												
UCK2	7371	broad.mit.edu	37	1	165876941	165876941	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr1:165876941C>T	uc001gdp.2	+	7	848	c.667C>T	c.(667-669)CAG>TAG	p.Q223*	UCK2_uc010plb.1_Nonsense_Mutation_p.Q85*	NM_012474	NP_036606	Q9BZX2	UCK2_HUMAN	uridine-cytidine kinase 2	223					pyrimidine base metabolic process|pyrimidine nucleoside salvage	cytosol	ATP binding|phosphotransferase activity, alcohol group as acceptor|uridine kinase activity			ovary(1)	1	all_hematologic(923;0.048)|Acute lymphoblastic leukemia(8;0.155)					CCTCATCGTGCAGCACATCCA	0.612												
MAEL	84944	broad.mit.edu	37	1	166958612	166958612	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr1:166958612G>A	uc001gdy.1	+	1	94	c.23G>A	c.(22-24)CGG>CAG	p.R8Q	MAEL_uc001gdz.1_Missense_Mutation_p.R8Q|MAEL_uc009wvf.1_5'Flank	NM_032858	NP_116247	Q96JY0	MAEL_HUMAN	maelstrom homolog	8	HMG box.				cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|multicellular organismal development|piRNA metabolic process|spermatogenesis	piP-body	DNA binding			skin(1)	1						AAGGCCAGCCGGAATGCTTAC	0.607												
METTL13	51603	broad.mit.edu	37	1	171753504	171753504	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr1:171753504C>T	uc001ghz.2	+	2	1125	c.778C>T	c.(778-780)CGC>TGC	p.R260C	METTL13_uc001gia.2_Missense_Mutation_p.R174C|METTL13_uc001gib.2_Intron|METTL13_uc010pml.1_Missense_Mutation_p.R259C	NM_015935	NP_057019	Q8N6R0	MTL13_HUMAN	CGI-01 protein isoform 1	260							methyltransferase activity|protein binding			kidney(1)	1						CAGCCAGCTGCGCCGCAAGGC	0.677												
KLHL20	27252	broad.mit.edu	37	1	173702865	173702865	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr1:173702865C>T	uc001gjc.2	+	3	216	c.37C>T	c.(37-39)CGA>TGA	p.R13*	KLHL20_uc010pmr.1_Intron|KLHL20_uc009wwf.2_5'UTR|KLHL20_uc001gjd.2_Nonsense_Mutation_p.R13*	NM_014458	NP_055273	Q9Y2M5	KLH20_HUMAN	kelch-like 20	13					cytoskeleton organization|negative regulation of apoptosis|proteasomal ubiquitin-dependent protein catabolic process|response to interferon-alpha	actin cytoskeleton|cell surface|Cul3-RING ubiquitin ligase complex|Golgi apparatus|perinuclear region of cytoplasm|PML body	actin binding|interferon-gamma binding|ubiquitin-protein ligase activity			ovary(1)	1						TACCAACATTCGACCAGGAGA	0.473												
KLHL20	27252	broad.mit.edu	37	1	173735385	173735385	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr1:173735385G>A	uc001gjc.2	+	8	1431	c.1252G>A	c.(1252-1254)GTG>ATG	p.V418M	KLHL20_uc010pmr.1_Missense_Mutation_p.V229M|KLHL20_uc009wwf.2_Missense_Mutation_p.V400M	NM_014458	NP_055273	Q9Y2M5	KLH20_HUMAN	kelch-like 20	418	Kelch 3.				cytoskeleton organization|negative regulation of apoptosis|proteasomal ubiquitin-dependent protein catabolic process|response to interferon-alpha	actin cytoskeleton|cell surface|Cul3-RING ubiquitin ligase complex|Golgi apparatus|perinuclear region of cytoplasm|PML body	actin binding|interferon-gamma binding|ubiquitin-protein ligase activity			ovary(1)	1						TCTTTATGCTGTGGGTGGCCA	0.438												
GPR52	9293	broad.mit.edu	37	1	174417458	174417458	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr1:174417458T>C	uc001gka.1	+	1	247	c.209T>C	c.(208-210)CTG>CCG	p.L70P	RABGAP1L_uc001gjw.2_Intron|RABGAP1L_uc001gjx.2_Intron|RABGAP1L_uc001gjy.2_Intron|RABGAP1L_uc001gjz.2_Intron	NM_005684	NP_005675	Q9Y2T5	GPR52_HUMAN	G protein-coupled receptor 52	70	Cytoplasmic (Potential).					integral to plasma membrane	G-protein coupled receptor activity			skin(1)	1						TGTGCTCCACTGTTACATCAT	0.418												
TNR	7143	broad.mit.edu	37	1	175372584	175372584	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr1:175372584C>T	uc001gkp.1	-	2	749	c.668G>A	c.(667-669)AGC>AAC	p.S223N	TNR_uc009wwu.1_Missense_Mutation_p.S223N|TNR_uc010pmz.1_Missense_Mutation_p.S223N	NM_003285	NP_003276	Q92752	TENR_HUMAN	tenascin R precursor	223	Cys-rich.|EGF-like 2.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix		p.S223S(1)		pancreas(5)|ovary(4)|central_nervous_system(1)|skin(1)	11	Renal(580;0.146)					GCTGTACTCGCTGTCACAGAT	0.627												
RFWD2	64326	broad.mit.edu	37	1	175996767	175996767	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr1:175996767T>C	uc001gku.1	-	15	1926	c.1670A>G	c.(1669-1671)AAT>AGT	p.N557S	RFWD2_uc001gkv.1_Missense_Mutation_p.N533S|RFWD2_uc001gkw.1_Missense_Mutation_p.N317S|RFWD2_uc009wwv.2_Missense_Mutation_p.N356S|RFWD2_uc001gkt.1_Missense_Mutation_p.N396S	NM_022457	NP_071902	Q8NHY2	RFWD2_HUMAN	ring finger and WD repeat domain 2 isoform a	557	WD 4.				DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest	centrosome|cytosol|focal adhesion|nuclear speck	protein binding|ubiquitin-protein ligase activity|zinc ion binding				0						ACAGCACACATTAGCCTTTGC	0.413												
RFWD2	64326	broad.mit.edu	37	1	176012905	176012905	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr1:176012905A>G	uc001gku.1	-	13	1727	c.1471T>C	c.(1471-1473)TAT>CAT	p.Y491H	RFWD2_uc001gkv.1_Missense_Mutation_p.Y467H|RFWD2_uc001gkw.1_Missense_Mutation_p.Y251H|RFWD2_uc009wwv.2_Missense_Mutation_p.Y290H|RFWD2_uc001gkt.1_Missense_Mutation_p.Y330H	NM_022457	NP_071902	Q8NHY2	RFWD2_HUMAN	ring finger and WD repeat domain 2 isoform a	491	WD 2.				DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest	centrosome|cytosol|focal adhesion|nuclear speck	protein binding|ubiquitin-protein ligase activity|zinc ion binding				0						GTGCCTTCATAATCACTGCTA	0.333												
CACNA1E	777	broad.mit.edu	37	1	181686388	181686388	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr1:181686388G>A	uc001gow.2	+	11	1640	c.1475G>A	c.(1474-1476)TGT>TAT	p.C492Y	CACNA1E_uc009wxs.2_Missense_Mutation_p.C399Y	NM_000721	NP_000712	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type,	492	Helical; Name=S1 of repeat II.|II.				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						AACACTGCCTGTGTGGCCATT	0.552												
HMCN1	83872	broad.mit.edu	37	1	186107029	186107029	+	Missense_Mutation	SNP	T	T	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr1:186107029T>A	uc001grq.1	+	89	14078	c.13849T>A	c.(13849-13851)TCA>ACA	p.S4617T	HMCN1_uc001grs.1_Missense_Mutation_p.S186T	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	hemicentin 1 precursor	4617	TSP type-1 2.				response to stimulus|visual perception	basement membrane	calcium ion binding			ovary(22)|skin(1)	23						CAATAATCCATCAGTTCAGCA	0.493												
TPR	7175	broad.mit.edu	37	1	186325579	186325579	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr1:186325579A>G	uc001grv.2	-	15	2024	c.1727T>C	c.(1726-1728)ATC>ACC	p.I576T		NM_003292	NP_003283	P12270	TPR_HUMAN	nuclear pore complex-associated protein TPR	576	Potential.				carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity			ovary(2)|lung(2)|urinary_tract(1)|central_nervous_system(1)|skin(1)	7		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		AAGCTCAGTGATTCTGTAGAA	0.408			T	NTRK1	papillary thyroid							
CRB1	23418	broad.mit.edu	37	1	197390889	197390889	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr1:197390889A>G	uc001gtz.2	+	6	2066	c.1931A>G	c.(1930-1932)CAA>CGA	p.Q644R	CRB1_uc010poz.1_Missense_Mutation_p.Q575R|CRB1_uc010ppa.1_RNA|CRB1_uc009wza.2_Missense_Mutation_p.Q532R|CRB1_uc010ppb.1_Missense_Mutation_p.Q644R|CRB1_uc010ppc.1_RNA|CRB1_uc010ppd.1_Missense_Mutation_p.Q125R|CRB1_uc001gub.1_Missense_Mutation_p.Q293R	NM_201253	NP_957705	P82279	CRUM1_HUMAN	crumbs homolog 1 precursor	644	Extracellular (Potential).|Laminin G-like 1.				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			ovary(5)|skin(3)|large_intestine(1)	9						GGCTGTCTCCAAGACATTAAA	0.433												
KIF21B	23046	broad.mit.edu	37	1	200977992	200977992	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr1:200977992C>T	uc001gvs.1	-	3	669	c.352G>A	c.(352-354)GCA>ACA	p.A118T	KIF21B_uc001gvr.1_Missense_Mutation_p.A118T|KIF21B_uc009wzl.1_Missense_Mutation_p.A118T|KIF21B_uc010ppn.1_Missense_Mutation_p.A118T	NM_017596	NP_060066	O75037	KI21B_HUMAN	kinesin family member 21B	118	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(3)|skin(3)	6						AAGAGGTGTGCGATGGCCCTC	0.627												
ARL8A	127829	broad.mit.edu	37	1	202107101	202107101	+	Silent	SNP	G	G	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr1:202107101G>A	uc001gxk.1	-	3	436	c.270C>T	c.(268-270)AGC>AGT	p.S90S		NM_138795	NP_620150	Q96BM9	ARL8A_HUMAN	ADP-ribosylation factor-like 8A	90					cell division|chromosome segregation|mitosis|small GTPase mediated signal transduction	late endosome membrane|lysosomal membrane|midbody|spindle midzone	alpha-tubulin binding|beta-tubulin binding|GTP binding|GTPase activity			ovary(2)	2						ACACGATGGCGCTCACTCCTC	0.537												
PPFIA4	8497	broad.mit.edu	37	1	203015058	203015058	+	Silent	SNP	T	T	C			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr1:203015058T>C	uc009xaj.2	+	12	1389	c.1389T>C	c.(1387-1389)CAT>CAC	p.H463H	PPFIA4_uc010pqf.1_Silent_p.H23H			O75335	LIPA4_HUMAN	SubName: Full=Liprin alpha4;	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					cell communication	cell surface|cytoplasm	protein binding			ovary(4)|skin(1)	5						CATCCATCCATGACCTCAATG	0.577												
CHI3L1	1116	broad.mit.edu	37	1	203152803	203152803	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr1:203152803C>T	uc001gzi.2	-	5	602	c.431G>A	c.(430-432)CGG>CAG	p.R144Q	FMOD_uc010pqi.1_Intron|CHI3L1_uc001gzk.1_5'Flank|CHI3L1_uc001gzj.2_Missense_Mutation_p.R144Q	NM_001276	NP_001267	P36222	CH3L1_HUMAN	chitinase 3-like 1 precursor	144					chitin catabolic process	extracellular space|proteinaceous extracellular matrix	cation binding|chitinase activity|extracellular matrix structural constituent|sugar binding			pancreas(1)	1						TTTGTCTCTCCGTCCAGGGTA	0.577												
ZC3H11A	9877	broad.mit.edu	37	1	203819736	203819736	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr1:203819736C>T	uc001hac.2	+	18	2649	c.2033C>T	c.(2032-2034)GCT>GTT	p.A678V	ZC3H11A_uc001had.2_Missense_Mutation_p.A678V|ZC3H11A_uc001hae.2_Missense_Mutation_p.A678V|ZC3H11A_uc001haf.2_Missense_Mutation_p.A678V|ZC3H11A_uc010pqm.1_Missense_Mutation_p.A624V	NM_014827	NP_055642	O75152	ZC11A_HUMAN	zinc finger CCCH-type containing 11A	678							nucleic acid binding|protein binding|zinc ion binding			lung(1)|central_nervous_system(1)	2	all_cancers(21;0.0904)|all_epithelial(62;0.234)		BRCA - Breast invasive adenocarcinoma(75;0.109)			ATGCACGCTGCTGTCATTGCC	0.502												
TMCC2	9911	broad.mit.edu	37	1	205238532	205238532	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr1:205238532G>A	uc001hbz.1	+	4	1646	c.1202G>A	c.(1201-1203)GGC>GAC	p.G401D	TMCC2_uc010prf.1_Missense_Mutation_p.G323D|TMCC2_uc001hca.2_Missense_Mutation_p.G176D|TMCC2_uc001hcb.1_Missense_Mutation_p.G161D|TMCC2_uc001hcc.1_Missense_Mutation_p.G22D|TMCC2_uc001hcd.2_Missense_Mutation_p.G168D	NM_014858	NP_055673	O75069	TMCC2_HUMAN	transmembrane and coiled-coil domain family 2	401						integral to membrane	protein binding			pancreas(1)	1	Breast(84;0.0871)		BRCA - Breast invasive adenocarcinoma(75;0.117)			TTTGGGGGCGGCGTGGTGGAG	0.706												
CR1	1378	broad.mit.edu	37	1	207739212	207739212	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr1:207739212A>G	uc001hfy.2	+	16	2686	c.2546A>G	c.(2545-2547)TAT>TGT	p.Y849C	CR1_uc009xcl.1_Intron|CR1_uc001hfx.2_Missense_Mutation_p.Y1299C|CR1_uc009xck.1_Intron	NM_000573	NP_000564	P17927	CR1_HUMAN	complement receptor 1 isoform F precursor	849	Extracellular (Potential).|Sushi 13.				complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity			ovary(3)	3						TCTGCTAGTTATTGTGTCTTG	0.423												
CR1	1378	broad.mit.edu	37	1	207782932	207782932	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr1:207782932T>C	uc001hfy.2	+	29	4984	c.4844T>C	c.(4843-4845)ATC>ACC	p.I1615T	CR1_uc009xcl.1_Missense_Mutation_p.I1165T|CR1_uc001hfx.2_Missense_Mutation_p.I2065T	NM_000573	NP_000564	P17927	CR1_HUMAN	complement receptor 1 isoform F precursor	1615	Extracellular (Potential).|Sushi 25.				complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity			ovary(3)	3						ACTGAGATCATCAGATTTAGA	0.502												
LAMB3	3914	broad.mit.edu	37	1	209788709	209788709	+	Silent	SNP	C	C	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr1:209788709C>T	uc001hhg.2	-	22	3816	c.3426G>A	c.(3424-3426)CTG>CTA	p.L1142L	LAMB3_uc009xco.2_Silent_p.L1142L|LAMB3_uc001hhh.2_Silent_p.L1142L	NM_001017402	NP_001017402	Q13751	LAMB3_HUMAN	laminin, beta 3 precursor	1142	Domain I.				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)		CCGCTGAGCGCAGCATGATGG	0.582												
LAMB3	3914	broad.mit.edu	37	1	209789929	209789929	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr1:209789929T>C	uc001hhg.2	-	21	3659	c.3269A>G	c.(3268-3270)GAC>GGC	p.D1090G	LAMB3_uc009xco.2_Missense_Mutation_p.D1090G|LAMB3_uc001hhh.2_Missense_Mutation_p.D1090G	NM_001017402	NP_001017402	Q13751	LAMB3_HUMAN	laminin, beta 3 precursor	1090	Domain I.|Potential.				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)		ACCCAACCGGTCCTTCAACTC	0.488												
SERTAD4	56256	broad.mit.edu	37	1	210415037	210415037	+	Silent	SNP	A	A	G			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr1:210415037A>G	uc001hhy.2	+	4	605	c.426A>G	c.(424-426)GAA>GAG	p.E142E	SERTAD4_uc009xcw.2_Silent_p.E142E	NM_019605	NP_062551	Q9NUC0	SRTD4_HUMAN	SERTA domain containing 4	142	SERTA.						protein binding			ovary(1)|pancreas(1)	2				OV - Ovarian serous cystadenocarcinoma(81;0.0237)|all cancers(67;0.127)		TCCATGGAGAAATTATCATGC	0.418												
KCNH1	3756	broad.mit.edu	37	1	210857460	210857460	+	Silent	SNP	G	G	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr1:210857460G>A	uc001hib.2	-	11	2303	c.2133C>T	c.(2131-2133)AGC>AGT	p.S711S	KCNH1_uc001hic.2_Silent_p.S684S	NM_172362	NP_758872	O95259	KCNH1_HUMAN	potassium voltage-gated channel, subfamily H,	711	Cytoplasmic (Potential).|Calmodulin-binding.				myoblast fusion|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity			ovary(4)|central_nervous_system(1)	5				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		GTTTCACATCGCTGATCTTCC	0.562												
PPP2R5A	5525	broad.mit.edu	37	1	212519208	212519208	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr1:212519208C>T	uc001hjb.2	+	5	1211	c.637C>T	c.(637-639)CGA>TGA	p.R213*	PPP2R5A_uc010ptd.1_Nonsense_Mutation_p.R154*	NM_006243	NP_006234	Q15172	2A5A_HUMAN	protein phosphatase 2, regulatory subunit B	213					negative regulation of establishment of protein localization in plasma membrane|negative regulation of lipid kinase activity|positive regulation of protein dephosphorylation|signal transduction	chromosome, centromeric region|cytoplasm|nucleus|protein phosphatase type 2A complex	kinase binding|protein phosphatase type 2A regulator activity			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(81;0.0125)|all cancers(67;0.029)|Epithelial(68;0.154)|GBM - Glioblastoma multiforme(131;0.155)		TGTTCTGCACCGAATTTATGG	0.323												
TATDN3	128387	broad.mit.edu	37	1	212981104	212981104	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr1:212981104T>C	uc001hjo.2	+	8	608	c.514T>C	c.(514-516)TTT>CTT	p.F172L	TATDN3_uc010ptj.1_Missense_Mutation_p.F172L|TATDN3_uc010ptk.1_Missense_Mutation_p.F172L|TATDN3_uc001hjp.2_Missense_Mutation_p.F172L|TATDN3_uc010ptl.1_Missense_Mutation_p.F151L|TATDN3_uc010ptm.1_Missense_Mutation_p.F120L	NM_001042552	NP_001036017	Q17R31	TATD3_HUMAN	TatD DNase domain containing 3 isoform 1	172						nucleus	endodeoxyribonuclease activity, producing 5'-phosphomonoesters|metal ion binding				0				OV - Ovarian serous cystadenocarcinoma(81;0.00699)|all cancers(67;0.0118)|GBM - Glioblastoma multiforme(131;0.0801)|Epithelial(68;0.104)		GCTGCATGCATTTGATGGTCG	0.388												
PROX1	5629	broad.mit.edu	37	1	214169903	214169903	+	Missense_Mutation	SNP	C	C	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr1:214169903C>A	uc001hkh.2	+	2	297	c.25C>A	c.(25-27)CTC>ATC	p.L9I	PROX1_uc001hkg.1_Missense_Mutation_p.L9I	NM_002763	NP_002754	Q92786	PROX1_HUMAN	prospero homeobox 1	9					aorta smooth muscle tissue morphogenesis|atrial cardiac muscle tissue morphogenesis|brain development|dorsal spinal cord development|embryonic retina morphogenesis in camera-type eye|endocardium formation|hepatocyte differentiation|kidney development|lens fiber cell morphogenesis|lung development|lymphangiogenesis|negative regulation of bile acid biosynthetic process|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of viral genome replication|neural tube development|olfactory placode formation|optic placode formation involved in camera-type eye formation|otic placode formation|pancreas development|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of heart growth|positive regulation of S phase of mitotic cell cycle|positive regulation of sarcomere organization|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment|skeletal muscle thin filament assembly|venous blood vessel morphogenesis|ventricular cardiac muscle tissue morphogenesis|ventricular cardiac myofibril development|ventricular septum morphogenesis	cytoplasm|nucleus	DBD domain binding|LBD domain binding|ligand-dependent nuclear receptor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding			ovary(3)|lung(1)|central_nervous_system(1)|skin(1)	6				OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)		CAGCACAGCCCTCTTAAGCCG	0.512												
KCNK2	3776	broad.mit.edu	37	1	215179291	215179291	+	Silent	SNP	T	T	C			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr1:215179291T>C	uc001hko.2	+	1	407	c.27T>C	c.(25-27)GAT>GAC	p.D9D	KCNK2_uc009xdm.2_RNA|KCNK2_uc001hkp.2_RNA	NM_001017424	NP_001017424	O95069	KCNK2_HUMAN	potassium channel, subfamily K, member 2 isoform	Error:Variant_position_missing_in_O95069_after_alignment							outward rectifier potassium channel activity				0				OV - Ovarian serous cystadenocarcinoma(81;0.0399)|all cancers(67;0.0556)|GBM - Glioblastoma multiforme(131;0.068)	Dofetilide(DB00204)	CAAAAAGGGATTTCTACTGTG	0.373												
KCTD3	51133	broad.mit.edu	37	1	215777493	215777493	+	Silent	SNP	C	C	T	rs138597417	by1000genomes	TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr1:215777493C>T	uc001hks.2	+	13	1452	c.1158C>T	c.(1156-1158)ATC>ATT	p.I386I	KCTD3_uc001hkt.2_Silent_p.I386I|KCTD3_uc010pub.1_Silent_p.I284I|KCTD3_uc009xdn.2_Silent_p.I138I	NM_016121	NP_057205	Q9Y597	KCTD3_HUMAN	potassium channel tetramerisation domain	386						voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			ovary(3)	3				all cancers(67;0.0164)|OV - Ovarian serous cystadenocarcinoma(81;0.019)|GBM - Glioblastoma multiforme(131;0.0862)|Epithelial(68;0.13)		GTAACTGGATCGAGATCGCCT	0.443												
USH2A	7399	broad.mit.edu	37	1	216496967	216496967	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr1:216496967A>G	uc001hku.1	-	8	1786	c.1399T>C	c.(1399-1401)TAC>CAC	p.Y467H	USH2A_uc001hkv.2_Missense_Mutation_p.Y467H	NM_206933	NP_996816	O75445	USH2A_HUMAN	usherin isoform B	467	Laminin N-terminal.|Extracellular (Potential).				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		AAGTTATTGTATCCAGGACGA	0.388										HNSCC(13;0.011)		
TGFB2	7042	broad.mit.edu	37	1	218607454	218607454	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr1:218607454A>G	uc001hlm.2	+	3	1194	c.541A>G	c.(541-543)ACC>GCC	p.T181A	TGFB2_uc001hln.2_Missense_Mutation_p.T209A|TGFB2_uc010pue.1_RNA|TGFB2_uc001hlo.2_RNA	NM_003238	NP_003229	P61812	TGFB2_HUMAN	transforming growth factor, beta 2 isoform 2	181					activation of protein kinase activity|angiogenesis|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cardioblast differentiation|catagen|cell cycle arrest|cell death|cell growth|cell-cell junction organization|cell-cell signaling|collagen fibril organization|dopamine biosynthetic process|embryonic digestive tract development|eye development|glial cell migration|hair follicle morphogenesis|hemopoiesis|menstrual cycle phase|negative regulation of alkaline phosphatase activity|negative regulation of cell growth|negative regulation of epithelial cell proliferation|negative regulation of immune response|negative regulation of macrophage cytokine production|neuron development|neutrophil chemotaxis|odontogenesis|pathway-restricted SMAD protein phosphorylation|platelet activation|platelet degranulation|positive regulation of cardioblast differentiation|positive regulation of catagen|positive regulation of cell adhesion mediated by integrin|positive regulation of cell cycle|positive regulation of cell division|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of epithelial cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of heart contraction|positive regulation of immune response|positive regulation of integrin biosynthetic process|positive regulation of neuron apoptosis|positive regulation of ossification|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein secretion|positive regulation of stress-activated MAPK cascade|regulation of transforming growth factor-beta2 production|response to hypoxia|response to progesterone stimulus|salivary gland morphogenesis|SMAD protein import into nucleus|somatic stem cell division|transforming growth factor beta receptor signaling pathway	axon|extracellular matrix|extracellular space|neuronal cell body|platelet alpha granule lumen	beta-amyloid binding|cytokine activity|growth factor activity|protein heterodimerization activity|protein homodimerization activity|receptor signaling protein serine/threonine kinase activity|type II transforming growth factor beta receptor binding				0				all cancers(67;0.0459)|OV - Ovarian serous cystadenocarcinoma(81;0.049)|GBM - Glioblastoma multiforme(131;0.0776)		AACATCTCCAACCCAGCGCTA	0.433												
LBR	3930	broad.mit.edu	37	1	225598068	225598068	+	Silent	SNP	G	G	A	rs149483088		TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr1:225598068G>A	uc001hoy.2	-	10	1382	c.1239C>T	c.(1237-1239)CGC>CGT	p.R413R	LBR_uc001hoz.2_Silent_p.R413R|LBR_uc001hpa.1_Silent_p.R413R	NM_002296	NP_002287	Q14739	LBR_HUMAN	lamin B receptor	413					cholesterol biosynthetic process	integral to nuclear inner membrane	chromo shadow domain binding|delta14-sterol reductase activity|DNA binding|lamin binding|receptor activity			ovary(1)|skin(1)	2	Breast(184;0.165)			GBM - Glioblastoma multiforme(131;0.117)		ATGGAACAGCGCGGTCCTGTA	0.358												
PARP1	142	broad.mit.edu	37	1	226562030	226562030	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr1:226562030G>A	uc001hqd.3	-	14	2138	c.1967C>T	c.(1966-1968)ACA>ATA	p.T656I		NM_001618	NP_001609	P09874	PARP1_HUMAN	poly (ADP-ribose) polymerase family, member 1	656					cellular response to insulin stimulus|protein ADP-ribosylation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nuclear envelope|nucleolus|transcription factor complex	DNA binding|identical protein binding|NAD+ ADP-ribosyltransferase activity|protein N-terminus binding|transcription factor binding|zinc ion binding			lung(3)|ovary(2)|breast(2)|skin(2)|upper_aerodigestive_tract(1)	10	Breast(184;0.133)			GBM - Glioblastoma multiforme(131;0.0531)		AGGATTTACTGTCAGCTTCTT	0.468								Direct_reversal_of_damage|PARP_enzymes_that_bind_to_DNA				
OBSCN	84033	broad.mit.edu	37	1	228434434	228434434	+	Silent	SNP	C	C	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr1:228434434C>T	uc009xez.1	+	13	4007	c.3963C>T	c.(3961-3963)GGC>GGT	p.G1321G	OBSCN_uc001hsn.2_Silent_p.G1321G	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and	1321	Ig-like 13.				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)				AGCAGGCAGGCCAGGCAGATG	0.597												
OBSCN	84033	broad.mit.edu	37	1	228468282	228468282	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr1:228468282G>A	uc009xez.1	+	30	8026	c.7982G>A	c.(7981-7983)CGC>CAC	p.R2661H	OBSCN_uc001hsn.2_Missense_Mutation_p.R2661H|OBSCN_uc001hsp.1_Missense_Mutation_p.R360H|OBSCN_uc001hsq.1_5'UTR	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and	2661	Ig-like 26.				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)				GCAGAGGAGCGCGGCACCCTG	0.637												
URB2	9816	broad.mit.edu	37	1	229770731	229770731	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr1:229770731G>A	uc001hts.1	+	4	507	c.371G>A	c.(370-372)CGA>CAA	p.R124Q	URB2_uc009xfd.1_Missense_Mutation_p.R124Q	NM_014777	NP_055592	Q14146	URB2_HUMAN	URB2 ribosome biogenesis 2 homolog	124						nucleolus				central_nervous_system(2)|ovary(1)	3						GCTGTCCTTCGATGTTGCCAG	0.498												
C1orf198	84886	broad.mit.edu	37	1	230979463	230979463	+	Silent	SNP	C	C	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr1:230979463C>T	uc001hub.2	-	3	608	c.564G>A	c.(562-564)GCG>GCA	p.A188A	C1orf198_uc009xfh.1_Silent_p.A58A|C1orf198_uc001huc.1_5'UTR|C1orf198_uc001hud.1_Silent_p.A150A	NM_032800	NP_116189	Q9H425	CA198_HUMAN	hypothetical protein LOC84886 isoform 1	188											0	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)				TCCAGAATGACGCTTCCTCCT	0.642												
SIPA1L2	57568	broad.mit.edu	37	1	232581327	232581327	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr1:232581327C>T	uc001hvg.2	-	9	3459	c.3301G>A	c.(3301-3303)GCT>ACT	p.A1101T	SIPA1L2_uc001hvf.2_Missense_Mutation_p.A175T	NM_020808	NP_065859	Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like	1101					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			ovary(2)|central_nervous_system(2)|pancreas(1)|skin(1)	6		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				GGAATGGCAGCCTGGGCCTGC	0.662												
KIAA1804	84451	broad.mit.edu	37	1	233507898	233507898	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr1:233507898C>T	uc001hvt.3	+	6	1928	c.1667C>T	c.(1666-1668)GCC>GTC	p.A556V	KIAA1804_uc001hvs.1_Missense_Mutation_p.A556V	NM_032435	NP_115811	Q5TCX8	M3KL4_HUMAN	mixed lineage kinase 4	556					activation of JUN kinase activity|protein autophosphorylation		ATP binding|MAP kinase kinase kinase activity|protein homodimerization activity			lung(5)|central_nervous_system(2)|skin(1)	8		all_cancers(173;0.000405)|all_epithelial(177;0.0345)|Prostate(94;0.122)				CGACTCCGAGCCATACAGTGT	0.547												
ARID4B	51742	broad.mit.edu	37	1	235345722	235345722	+	Missense_Mutation	SNP	A	A	C			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr1:235345722A>C	uc001hwq.2	-	20	3010	c.2512T>G	c.(2512-2514)TCA>GCA	p.S838A	ARID4B_uc001hwr.2_Missense_Mutation_p.S752A|ARID4B_uc001hws.3_Missense_Mutation_p.S752A|ARID4B_uc001hwp.2_RNA|ARID4B_uc001hwt.3_Missense_Mutation_p.S519A	NM_016374	NP_057458	Q4LE39	ARI4B_HUMAN	AT rich interactive domain 4B isoform 1	838					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding			ovary(2)|lung(1)	3	Ovarian(103;0.0473)|Breast(184;0.23)	all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)			TTGCCAGGTGATCCAGTTTTT	0.373												
LYST	1130	broad.mit.edu	37	1	235840481	235840481	+	Missense_Mutation	SNP	A	A	C			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr1:235840481A>C	uc001hxj.2	-	50	11123	c.10948T>G	c.(10948-10950)TAT>GAT	p.Y3650D	LYST_uc001hxi.2_Missense_Mutation_p.Y874D	NM_000081	NP_000072	Q99698	LYST_HUMAN	lysosomal trafficking regulator	3650	WD 4.				defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			ovary(6)|breast(4)|central_nervous_system(2)	12	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			CTTTGTACATAGCATAACCTG	0.373									Chediak-Higashi_syndrome			
NID1	4811	broad.mit.edu	37	1	236208817	236208817	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr1:236208817T>C	uc001hxo.2	-	3	794	c.692A>G	c.(691-693)AAG>AGG	p.K231R	NID1_uc009xgd.2_Missense_Mutation_p.K231R	NM_002508	NP_002499	P14543	NID1_HUMAN	nidogen 1 precursor	231	NIDO.				cell-matrix adhesion	basement membrane	calcium ion binding			large_intestine(1)|pancreas(1)	2	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Becaplermin(DB00102)|Urokinase(DB00013)	TCCGTTGCTCTTCCATAAGAA	0.408												
RYR2	6262	broad.mit.edu	37	1	237919637	237919637	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr1:237919637A>G	uc001hyl.1	+	81	11315	c.11195A>G	c.(11194-11196)CAC>CGC	p.H3732R	RYR2_uc010pya.1_Missense_Mutation_p.H147R	NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	3732					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)			GCCCGACTCCACGATCGTGGC	0.473												
RGS7	6000	broad.mit.edu	37	1	240990446	240990446	+	Silent	SNP	C	C	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr1:240990446C>A	uc001hyv.2	-	10	966	c.636G>T	c.(634-636)GTG>GTT	p.V212V	RGS7_uc010pyh.1_Silent_p.V186V|RGS7_uc010pyj.1_Silent_p.V128V|RGS7_uc001hyu.2_Silent_p.V212V|RGS7_uc009xgn.1_Silent_p.V159V|RGS7_uc001hyw.2_Silent_p.V212V|RGS7_uc001hyt.2_Silent_p.V44V	NM_002924	NP_002915	P49802	RGS7_HUMAN	regulator of G-protein signaling 7	212					G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|protein binding|signal transducer activity			ovary(4)|skin(2)|kidney(1)	7		all_cancers(173;0.0131)	OV - Ovarian serous cystadenocarcinoma(106;0.027)			TCTTAATGTCCACTTCAGTTG	0.403												
CHML	1122	broad.mit.edu	37	1	241798364	241798364	+	Silent	SNP	T	T	C			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr1:241798364T>C	uc001hzd.2	-	1	869	c.705A>G	c.(703-705)TCA>TCG	p.S235S	OPN3_uc001hza.2_Intron|OPN3_uc001hzb.2_Intron|OPN3_uc001hzc.2_Intron	NM_001821	NP_001812	P26374	RAE2_HUMAN	choroideremia-like Rab escort protein 2	235					intracellular protein transport|visual perception	Rab-protein geranylgeranyltransferase complex	GTPase activator activity|Rab geranylgeranyltransferase activity			ovary(4)|skin(2)	6	Ovarian(103;0.103)|all_lung(81;0.23)	all_cancers(173;0.0231)	OV - Ovarian serous cystadenocarcinoma(106;0.0125)			ACAGCAGTTTTGACACCAAAT	0.318												
EXO1	9156	broad.mit.edu	37	1	242030359	242030359	+	Splice_Site	SNP	T	T	C			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr1:242030359T>C	uc001hzh.2	+	11	1807	c.1267_splice	c.e11+2	p.A423_splice	EXO1_uc001hzi.2_Splice_Site_p.A423_splice|EXO1_uc001hzj.2_Splice_Site_p.A423_splice|EXO1_uc009xgq.2_Splice_Site_p.E423_splice	NM_130398	NP_569082	Q9UQ84	EXO1_HUMAN	exonuclease 1 isoform b						meiosis|mismatch repair	nucleus	double-stranded DNA specific 5'-3' exodeoxyribonuclease activity|flap endonuclease activity|metal ion binding|protein binding|protein binding|ribonuclease H activity|single-stranded DNA specific 5'-3' exodeoxyribonuclease activity			ovary(2)|lung(2)|skin(1)	5	Ovarian(103;0.103)	all_cancers(173;0.0555)	OV - Ovarian serous cystadenocarcinoma(106;0.0107)			CAAGAAGTGGTACGTATTTCA	0.264								Direct_reversal_of_damage|Editing_and_processing_nucleases				
ZNF695	57116	broad.mit.edu	37	1	247150914	247150914	+	Silent	SNP	A	A	G			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr1:247150914A>G	uc009xgu.2	-	4	1048	c.903T>C	c.(901-903)TGT>TGC	p.C301C	ZNF695_uc001ica.2_Intron|ZNF695_uc001icb.1_Intron|ZNF695_uc009xgt.1_Intron|ZNF695_uc001ibx.2_Intron|ZNF695_uc001iby.2_Intron	NM_020394	NP_065127	Q8IW36	ZN695_HUMAN	zinc finger protein SBZF3	301	C2H2-type 6.				regulation of transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding				0	all_cancers(71;4.01e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			AGGATTTGCCACATTCTTCAC	0.358												
OR2G3	81469	broad.mit.edu	37	1	247769239	247769239	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr1:247769239A>G	uc010pyz.1	+	1	352	c.352A>G	c.(352-354)ATG>GTG	p.M118V		NM_001001914	NP_001001914	Q8NGZ4	OR2G3_HUMAN	olfactory receptor, family 2, subfamily G,	118	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)	1	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			CTTGGCTGACATGGCCTTGGA	0.507												
OR2W3	343171	broad.mit.edu	37	1	248059019	248059019	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr1:248059019C>T	uc001idp.1	+	3	400	c.131C>T	c.(130-132)ACC>ATC	p.T44I	OR2W3_uc010pzb.1_Missense_Mutation_p.T44I	NM_001001957	NP_001001957	Q7Z3T1	OR2W3_HUMAN	olfactory receptor, family 2, subfamily W,	44	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|breast(1)|pancreas(1)	3	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			GGCAACACCACCATCATCCTG	0.577												
OR2M5	127059	broad.mit.edu	37	1	248309326	248309326	+	Missense_Mutation	SNP	C	C	A	rs150445512	by1000genomes	TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr1:248309326C>A	uc010pze.1	+	1	877	c.877C>A	c.(877-879)CGC>AGC	p.R293S		NM_001004690	NP_001004690	A3KFT3	OR2M5_HUMAN	olfactory receptor, family 2, subfamily M,	293	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|kidney(1)	3	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0388)			CTACAGCCTCCGCAACAAGGA	0.493												
OR2T27	403239	broad.mit.edu	37	1	248813394	248813394	+	Silent	SNP	A	A	G			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr1:248813394A>G	uc010pzo.1	-	1	792	c.792T>C	c.(790-792)TCT>TCC	p.S264S		NM_001001824	NP_001001824	Q8NH04	O2T27_HUMAN	olfactory receptor, family 2, subfamily T,	264	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1	all_cancers(71;1.15e-05)|all_epithelial(71;5.29e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.089)|Lung NSC(105;0.0969)|Melanoma(84;0.199)	all_cancers(173;0.237)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GGGTGTGGTAAGAATGAGGCA	0.527												
SH3BP5L	80851	broad.mit.edu	37	1	249107289	249107289	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr1:249107289C>T	uc001iew.1	-	6	1162	c.610G>A	c.(610-612)GCT>ACT	p.A204T	SH3BP5L_uc010pzp.1_Missense_Mutation_p.A97T|SH3BP5L_uc010pzq.1_Missense_Mutation_p.A172T|SH3BP5L_uc001iev.1_Missense_Mutation_p.A85T	NM_030645	NP_085148	Q7L8J4	3BP5L_HUMAN	SH3-binding domain protein 5-like	204	Potential.										0	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	OV - Ovarian serous cystadenocarcinoma(106;0.00805)			CGAGCCTCAGCCTGTTGGCAC	0.637												
ZMYND11	10771	broad.mit.edu	37	10	293373	293373	+	Silent	SNP	A	A	G			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr10:293373A>G	uc010pzt.1	+	12	1622	c.1194A>G	c.(1192-1194)GGA>GGG	p.G398G	ZMYND11_uc001ifk.2_Silent_p.G397G|ZMYND11_uc010pzu.1_Silent_p.G398G|ZMYND11_uc010pzv.1_Silent_p.G343G|ZMYND11_uc010pzw.1_Silent_p.G313G|ZMYND11_uc001ifm.2_Silent_p.G344G|ZMYND11_uc010pzx.1_Silent_p.G398G|ZMYND11_uc001ifn.2_Silent_p.G344G|ZMYND11_uc009xhg.2_Silent_p.G381G|ZMYND11_uc009xhh.2_Silent_p.G272G|ZMYND11_uc010pzy.1_Silent_p.G250G	NM_006624	NP_006615	Q15326	ZMY11_HUMAN	zinc finger, MYND domain containing 11 isoform	358	Nuclear localization signal (Potential).				cell cycle|cell proliferation|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		all_cancers(4;1.32e-05)|all_lung(4;3.67e-05)|Lung NSC(4;0.000301)|all_epithelial(10;0.000416)|Colorectal(49;0.14)	OV - Ovarian serous cystadenocarcinoma(33;0.132)	Epithelial(11;0.00289)|all cancers(11;0.0108)|Lung(33;0.0689)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		CAAAGAAAGGACGACGTAATC	0.383												
GDI2	2665	broad.mit.edu	37	10	5808594	5808594	+	Silent	SNP	G	G	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr10:5808594G>A	uc001iil.3	-	9	1290	c.999C>T	c.(997-999)TAC>TAT	p.Y333Y	GDI2_uc001iim.3_Silent_p.Y288Y|GDI2_uc009xid.2_Silent_p.Y337Y	NM_001494	NP_001485	P50395	GDIB_HUMAN	GDP dissociation inhibitor 2 isoform 1	333					protein transport|small GTPase mediated signal transduction	cell surface|cytosol|membrane	protein binding|Rab GDP-dissociation inhibitor activity				0						TCATGCAGACGTAGATATCTA	0.448												
SFMBT2	57713	broad.mit.edu	37	10	7239569	7239569	+	Silent	SNP	T	T	G			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr10:7239569T>G	uc009xio.1	-	15	1730	c.1639A>C	c.(1639-1641)AGG>CGG	p.R547R	SFMBT2_uc001ijn.1_Silent_p.R547R|SFMBT2_uc010qay.1_Intron	NM_001029880	NP_001025051	Q5VUG0	SMBT2_HUMAN	Scm-like with four mbt domains 2	547					regulation of transcription, DNA-dependent	nucleus				ovary(4)|upper_aerodigestive_tract(2)|large_intestine(1)|central_nervous_system(1)	8						TCTGCAATCCTTCCTTTGTTC	0.507												
ITIH2	3698	broad.mit.edu	37	10	7773852	7773852	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr10:7773852A>G	uc001ijs.2	+	13	1702	c.1540A>G	c.(1540-1542)ACT>GCT	p.T514A		NM_002216	NP_002207	P19823	ITIH2_HUMAN	inter-alpha globulin inhibitor H2 polypeptide	514					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			ovary(1)|pancreas(1)|skin(1)	3						CACGGACGTCACTCAAAACAA	0.438												
TAF3	83860	broad.mit.edu	37	10	8007477	8007477	+	Silent	SNP	T	T	C			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr10:8007477T>C	uc010qbd.1	+	3	2004	c.2004T>C	c.(2002-2004)CCT>CCC	p.P668P		NM_031923	NP_114129	Q5VWG9	TAF3_HUMAN	RNA polymerase II transcription factor TAFII140	668	Lys-rich.				maintenance of protein location in nucleus|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	transcription factor TFIID complex	protein binding|zinc ion binding			ovary(1)	1						TGTTCAGCCCTGCCACAGCCT	0.423												
UPF2	26019	broad.mit.edu	37	10	12009391	12009391	+	Silent	SNP	T	T	C			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr10:12009391T>C	uc001ila.2	-	9	2490	c.2016A>G	c.(2014-2016)GAA>GAG	p.E672E	UPF2_uc001ilb.2_Silent_p.E672E|UPF2_uc001ilc.2_Silent_p.E672E|UPF2_uc009xiz.1_Silent_p.E672E	NM_080599	NP_542166	Q9HAU5	RENT2_HUMAN	UPF2 regulator of nonsense transcripts homolog	672	MIF4G 2.				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	exon-exon junction complex|perinuclear region of cytoplasm	identical protein binding|RNA binding			central_nervous_system(2)|ovary(1)	3		Renal(717;0.228)				ACTTAGTTAGTTCTCCTATAA	0.279												
FAM171A1	221061	broad.mit.edu	37	10	15256119	15256119	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr10:15256119T>C	uc001iob.2	-	8	1475	c.1468A>G	c.(1468-1470)AAC>GAC	p.N490D		NM_001010924	NP_001010924	Q5VUB5	F1711_HUMAN	hypothetical protein LOC221061 precursor	490	Cytoplasmic (Potential).					integral to membrane				ovary(2)|breast(1)|skin(1)	4						AGCACGGTGTTGTAACTACCC	0.493												
CUBN	8029	broad.mit.edu	37	10	17113596	17113596	+	Silent	SNP	C	C	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr10:17113596C>A	uc001ioo.2	-	19	2506	c.2454G>T	c.(2452-2454)GGG>GGT	p.G818G		NM_001081	NP_001072	O60494	CUBN_HUMAN	cubilin precursor	818	CUB 4.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1)	19					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TTAATTCATCCCCGCAAGCTG	0.408												
GPR158	57512	broad.mit.edu	37	10	25887406	25887406	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr10:25887406A>G	uc001isj.2	+	11	2911	c.2851A>G	c.(2851-2853)ACA>GCA	p.T951A	GPR158_uc001isk.2_Missense_Mutation_p.T326A	NM_020752	NP_065803	Q5T848	GP158_HUMAN	G protein-coupled receptor 158 precursor	951	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(4)|large_intestine(2)|pancreas(1)|skin(1)	8						TTCTGATAACACAGAGACTAA	0.443												
APBB1IP	54518	broad.mit.edu	37	10	26789948	26789948	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr10:26789948A>G	uc001iss.2	+	5	682	c.361A>G	c.(361-363)ATC>GTC	p.I121V	APBB1IP_uc001isr.2_Missense_Mutation_p.I121V|APBB1IP_uc009xks.1_Missense_Mutation_p.I121V	NM_019043	NP_061916	Q7Z5R6	AB1IP_HUMAN	amyloid beta (A4) precursor protein-binding,	121					blood coagulation|signal transduction	cytoskeleton|cytosol|focal adhesion|lamellipodium				lung(4)|skin(2)|central_nervous_system(1)	7						TGCCACTGGTATCAGCCAATA	0.478												
KIF5B	3799	broad.mit.edu	37	10	32306209	32306209	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr10:32306209T>C	uc001iwe.3	-	24	3093	c.2623A>G	c.(2623-2625)AAA>GAA	p.K875E		NM_004521	NP_004512	P33176	KINH_HUMAN	kinesin family member 5B	875					stress granule disassembly|vesicle transport along microtubule	kinesin complex|microtubule|perinuclear region of cytoplasm|vesicle	ATP binding|microtubule binding|microtubule motor activity		KIF5B/ALK(4)	lung(4)|ovary(1)	5		Prostate(175;0.0137)				TCCAAAGCTTTCACTCTCTCA	0.433												
NRP1	8829	broad.mit.edu	37	10	33552726	33552726	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr10:33552726T>C	uc001iwx.3	-	4	1029	c.506A>G	c.(505-507)AAC>AGC	p.N169S	NRP1_uc001iwv.3_Missense_Mutation_p.N169S|NRP1_uc009xlz.2_Missense_Mutation_p.N169S|NRP1_uc001iww.3_5'UTR|NRP1_uc001iwy.3_Missense_Mutation_p.N169S|NRP1_uc001iwz.2_Missense_Mutation_p.N169S|NRP1_uc001ixa.2_Missense_Mutation_p.N169S|NRP1_uc001ixb.1_Missense_Mutation_p.N169S|NRP1_uc001ixc.1_Missense_Mutation_p.N169S	NM_003873	NP_003864	O14786	NRP1_HUMAN	neuropilin 1 isoform a	169	Extracellular (Potential).|CUB 2.				axon guidance|cell adhesion|cell-cell signaling|organ morphogenesis|positive regulation of cell proliferation	extracellular region|integral to membrane|plasma membrane	growth factor binding|heparin binding|metal ion binding|vascular endothelial growth factor receptor activity			central_nervous_system(2)|ovary(1)|skin(1)	4					Palifermin(DB00039)|Pegaptanib(DB04895)	TTCAAGGCTGTTGGGATATTT	0.438												
GJD4	219770	broad.mit.edu	37	10	35896701	35896701	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr10:35896701T>C	uc001iyy.1	+	2	418	c.260T>C	c.(259-261)CTC>CCC	p.L87P		NM_153368	NP_699199	Q96KN9	CXD4_HUMAN	connexin40.1	87	Helical; (Potential).				cell communication	connexon complex|integral to membrane				large_intestine(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5						TGCGTCCTCCTCCCCTCCGCC	0.706												
C10orf25	220979	broad.mit.edu	37	10	45496198	45496198	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr10:45496198T>C	uc001jbv.1	-	1	139	c.110A>G	c.(109-111)AAC>AGC	p.N37S	C10orf25_uc010qff.1_RNA|ZNF22_uc001jbw.2_5'Flank	NM_001039380	NP_001034469	Q5T742	CJ025_HUMAN	hypothetical protein LOC220979 precursor	37						extracellular region					0						ACAGGGGCGGTTACAGCTCTT	0.517												
ALOX5	240	broad.mit.edu	37	10	45938585	45938585	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr10:45938585C>T	uc001jce.2	+	10	1471	c.1372C>T	c.(1372-1374)CGG>TGG	p.R458W	ALOX5_uc009xmt.2_Missense_Mutation_p.R426W|ALOX5_uc010qfg.1_Missense_Mutation_p.R458W	NM_000698	NP_000689	P09917	LOX5_HUMAN	arachidonate 5-lipoxygenase	458	Lipoxygenase.				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process	cytosol|nuclear envelope lumen|nuclear matrix|nuclear membrane	arachidonate 5-lipoxygenase activity|iron ion binding|lipoxygenase activity|protein binding			ovary(1)|pancreas(1)	2		Lung SC(717;0.0257)			Diethylcarbamazine(DB00711)|Hydrocortisone(DB00741)|Leflunomide(DB01097)|Masoprocol(DB00179)|Meclofenamic acid(DB00939)|Minocycline(DB01017)|Montelukast(DB00471)|Quinacrine(DB01103)|Vitamin E(DB00163)|Zileuton(DB00744)	CATCAAGGCCCGGGGCATGGA	0.657												
SYT15	83849	broad.mit.edu	37	10	46969273	46969273	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr10:46969273G>A	uc001jea.2	-	2	341	c.188C>T	c.(187-189)CCG>CTG	p.P63L	SYT15_uc001jdz.2_Missense_Mutation_p.P63L|SYT15_uc001jeb.2_Intron|SYT15_uc010qfp.1_5'Flank	NM_031912	NP_114118	Q9BQS2	SYT15_HUMAN	synaptotagmin XV isoform a	63	Cytoplasmic (Potential).					integral to membrane|plasma membrane					0						CCTAGCATGCGGCTGGCAGGG	0.612												
ERCC6	2074	broad.mit.edu	37	10	50732687	50732687	+	Silent	SNP	G	G	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr10:50732687G>A	uc001jhs.3	-	5	943	c.789C>T	c.(787-789)ATC>ATT	p.I263I	PGBD3_uc001jht.2_5'Flank|PGBD3_uc009xoe.2_Silent_p.I263I|PGBD3_uc001jhu.2_Silent_p.I263I	NM_000124	NP_000115	Q03468	ERCC6_HUMAN	excision repair cross-complementing rodent	263					base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair	nucleolus|soluble fraction|transcription elongation factor complex	ATP binding|chromatin binding|DNA binding|DNA-dependent ATPase activity|helicase activity|protein C-terminus binding|protein complex binding|protein N-terminus binding			lung(5)|breast(5)|ovary(3)|large_intestine(2)|skin(1)	16						CATTAAGCATGATTTTTCTGG	0.448								Direct_reversal_of_damage|NER				
CISD1	55847	broad.mit.edu	37	10	60036948	60036948	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr10:60036948T>C	uc001jkc.3	+	2	242	c.103T>C	c.(103-105)TAT>CAT	p.Y35H		NM_018464	NP_060934	Q9NZ45	CISD1_HUMAN	CDGSH iron sulfur domain 1	35	Cytoplasmic (Potential).					integral to membrane|mitochondrial outer membrane	2 iron, 2 sulfur cluster binding|metal ion binding				0						CAAAAGATTTTATGTTAAAGA	0.378												
ANK3	288	broad.mit.edu	37	10	61827769	61827769	+	Splice_Site	SNP	T	T	C			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr10:61827769T>C	uc001jky.2	-	38	12437	c.12245_splice	c.e38-1	p.G4082_splice	ANK3_uc001jkw.2_Splice_Site_p.S603_splice|ANK3_uc009xpa.2_Splice_Site_p.S603_splice|ANK3_uc001jkx.2_Splice_Site_p.S647_splice|ANK3_uc010qih.1_Splice_Site_p.S1470_splice|ANK3_uc001jkz.3_Splice_Site_p.S1463_splice|ANK3_uc001jkv.2_Splice_Site_p.S2_splice|ANK3_uc009xpb.1_Intron	NM_020987	NP_066267	Q12955	ANK3_HUMAN	ankyrin 3 isoform 1						establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			skin(9)|ovary(6)|pancreas(2)|central_nervous_system(2)	19						TCTGTGGACCTACGATTTACA	0.393												
EGR2	1959	broad.mit.edu	37	10	64573620	64573620	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr10:64573620G>A	uc010qim.1	-	3	932	c.778C>T	c.(778-780)CCT>TCT	p.P260S	EGR2_uc010qin.1_Missense_Mutation_p.P210S|EGR2_uc001jmi.2_Missense_Mutation_p.P260S|EGR2_uc010qio.1_Missense_Mutation_p.P273S|EGR2_uc009xph.2_Missense_Mutation_p.P260S	NM_001136177	NP_001129649	P11161	EGR2_HUMAN	early growth response 2 protein isoform a	260					fat cell differentiation|protein export from nucleus|transcription from RNA polymerase II promoter	cytoplasm|nucleus	chromatin binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|ubiquitin protein ligase binding|zinc ion binding			ovary(2)	2	Prostate(12;0.0297)|all_hematologic(501;0.228)					GTGAGTGGAGGGGGCACCCGC	0.632												
CTNNA3	29119	broad.mit.edu	37	10	67829230	67829230	+	Silent	SNP	C	C	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr10:67829230C>A	uc009xpn.1	-	15	2118	c.1995G>T	c.(1993-1995)CTG>CTT	p.L665L	CTNNA3_uc001jmw.2_Silent_p.L665L	NM_001127384	NP_001120856	Q9UI47	CTNA3_HUMAN	catenin, alpha 3	665					cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity			skin(3)|ovary(2)|pancreas(1)|lung(1)|central_nervous_system(1)	8						CTGCCTCAGGCAGTTGAGTCA	0.348												
CCAR1	55749	broad.mit.edu	37	10	70509441	70509441	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr10:70509441T>C	uc001joo.2	+	10	1236	c.1117T>C	c.(1117-1119)TGT>CGT	p.C373R	CCAR1_uc001jol.1_RNA|CCAR1_uc001jom.1_Missense_Mutation_p.C178R|CCAR1_uc009xpx.1_Missense_Mutation_p.C347R|CCAR1_uc001jon.1_Missense_Mutation_p.C319R|CCAR1_uc010qiz.1_Missense_Mutation_p.C358R|CCAR1_uc010qja.1_Missense_Mutation_p.C358R|CCAR1_uc010qjb.1_RNA	NM_018237	NP_060707	Q8IX12	CCAR1_HUMAN	cell-cycle and apoptosis regulatory protein 1	373					apoptosis|cell cycle|nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm|perinuclear region of cytoplasm	calcium ion binding|nucleic acid binding|protein binding			ovary(6)|large_intestine(1)	7						TTCTTTAGATTGGTAGGTTAT	0.403												
KIAA1279	26128	broad.mit.edu	37	10	70768669	70768669	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr10:70768669G>A	uc001joy.2	+	5	958	c.862G>A	c.(862-864)GCC>ACC	p.A288T		NM_015634	NP_056449	Q96EK5	KBP_HUMAN	KIF1 binding protein	288					cell differentiation|mitochondrial transport|nervous system development	mitochondrion	kinesin binding			ovary(1)	1						AAAGATCTCAGCCACAGAAGA	0.284												
HKDC1	80201	broad.mit.edu	37	10	71026488	71026488	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr10:71026488T>C	uc001jpf.3	+	18	2862	c.2729T>C	c.(2728-2730)TTA>TCA	p.L910S	HKDC1_uc010qje.1_Missense_Mutation_p.L773S|HKDC1_uc009xqb.2_RNA	NM_025130	NP_079406	Q2TB90	HKDC1_HUMAN	hexokinase domain containing 1	910					glycolysis	mitochondrion|nucleus	ATP binding|hexokinase activity			ovary(4)|skin(1)	5						GCCAAGAGGTTACAGCAGGCA	0.512												
CDH23	64072	broad.mit.edu	37	10	73405660	73405660	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr10:73405660G>A	uc001jrx.3	+	12	1590	c.1213G>A	c.(1213-1215)GTC>ATC	p.V405I	CDH23_uc001jrw.3_Missense_Mutation_p.V405I|CDH23_uc001jry.2_Missense_Mutation_p.V21I|CDH23_uc001jrz.2_Missense_Mutation_p.V21I	NM_022124	NP_071407	Q9H251	CAD23_HUMAN	cadherin-like 23 isoform 1 precursor	405	Cadherin 4.|Extracellular (Potential).				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			central_nervous_system(5)|large_intestine(4)|ovary(2)	11						CCCGACCTCCGTCCAGGGGAA	0.567												
CDH23	64072	broad.mit.edu	37	10	73491866	73491866	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr10:73491866A>G	uc001jrx.3	+	31	4215	c.3838A>G	c.(3838-3840)ATG>GTG	p.M1280V	CDH23_uc001jrz.2_Missense_Mutation_p.M896V|C10orf105_uc001jsb.1_Intron|CDH23_uc001jsc.1_Missense_Mutation_p.M88V	NM_022124	NP_071407	Q9H251	CAD23_HUMAN	cadherin-like 23 isoform 1 precursor	1280	Cadherin 12.|Extracellular (Potential).				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			central_nervous_system(5)|large_intestine(4)|ovary(2)	11						GACCAGCTACATGATGAATGT	0.572												
CDH23	64072	broad.mit.edu	37	10	73571099	73571099	+	Silent	SNP	G	G	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr10:73571099G>A	uc001jrx.3	+	61	9482	c.9105G>A	c.(9103-9105)AAG>AAA	p.K3035K	CDH23_uc001jsg.3_Silent_p.K795K|CDH23_uc001jsh.3_Silent_p.K795K|CDH23_uc001jsi.3_Silent_p.K795K|CDH23_uc001jsj.3_5'Flank|CDH23_uc010qjr.1_5'Flank	NM_022124	NP_071407	Q9H251	CAD23_HUMAN	cadherin-like 23 isoform 1 precursor	3035	Extracellular (Potential).				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			central_nervous_system(5)|large_intestine(4)|ovary(2)	11						ATGAGAACAAGGAGCAGCTAC	0.607												
OIT3	170392	broad.mit.edu	37	10	74684031	74684031	+	Silent	SNP	A	A	G			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr10:74684031A>G	uc001jte.1	+	7	1214	c.996A>G	c.(994-996)CTA>CTG	p.L332L	OIT3_uc009xqs.1_Intron	NM_152635	NP_689848	Q8WWZ8	OIT3_HUMAN	oncoprotein-induced transcript 3 precursor	332	ZP.					nuclear envelope	calcium ion binding			ovary(2)	2	Prostate(51;0.0198)					TGACAGGTCTACCCAAGCAGA	0.552												
USP54	159195	broad.mit.edu	37	10	75279629	75279629	+	Silent	SNP	C	C	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr10:75279629C>T	uc001juo.2	-	17	2621	c.2604G>A	c.(2602-2604)CAG>CAA	p.Q868Q	USP54_uc010qkk.1_Silent_p.Q50Q|USP54_uc001juk.2_Intron|USP54_uc001jul.2_Intron|USP54_uc001jum.2_Intron|USP54_uc001jun.2_Intron|USP54_uc001jup.2_Silent_p.Q868Q	NM_152586	NP_689799	Q70EL1	UBP54_HUMAN	ubiquitin specific peptidase 54	868	Poly-Gln.				ubiquitin-dependent protein catabolic process		protein binding|ubiquitin thiolesterase activity			breast(3)|lung(2)|kidney(1)	6	Prostate(51;0.0112)					GTGGTGATTGCTGCTGCTGCA	0.557												
SYNPO2L	79933	broad.mit.edu	37	10	75407636	75407636	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr10:75407636C>T	uc001jut.3	-	4	1926	c.1774G>A	c.(1774-1776)GCG>ACG	p.A592T	SYNPO2L_uc001jus.3_Missense_Mutation_p.A368T	NM_001114133	NP_001107605	Q9H987	SYP2L_HUMAN	synaptopodin 2-like isoform a	592	Pro-rich.					cytoplasm|cytoskeleton	actin binding			ovary(1)	1	Prostate(51;0.0112)					TCTGGGCGCGCAGAGGGTCGC	0.692												
POLR3A	11128	broad.mit.edu	37	10	79761979	79761979	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr10:79761979T>C	uc001jzn.2	-	17	2429	c.2335A>G	c.(2335-2337)ACC>GCC	p.T779A		NM_007055	NP_008986	O14802	RPC1_HUMAN	polymerase (RNA) III (DNA directed) polypeptide	779					innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity|ribonucleoside binding|zinc ion binding				0	all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095)		Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646)			AGAGCCATGGTGAGGGGGCTG	0.582												
GRID1	2894	broad.mit.edu	37	10	87484209	87484209	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr10:87484209T>C	uc001kdl.1	-	11	1859	c.1758A>G	c.(1756-1758)ATA>ATG	p.I586M	GRID1_uc009xsu.1_RNA|GRID1_uc010qmf.1_Missense_Mutation_p.I157M	NM_017551	NP_060021	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	586	Cytoplasmic (Potential).					cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			ovary(5)|upper_aerodigestive_tract(2)|large_intestine(2)|central_nervous_system(1)	10					L-Glutamic Acid(DB00142)	TCACAGCCTGTATCCTGTTCA	0.552										Multiple Myeloma(13;0.14)		
GLUD1	2746	broad.mit.edu	37	10	88820800	88820800	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr10:88820800T>C	uc001keh.2	-	7	1028	c.931A>G	c.(931-933)AAT>GAT	p.N311D	GLUD1_uc001keg.2_Missense_Mutation_p.N144D|GLUD1_uc010qmp.1_Missense_Mutation_p.N178D	NM_005271	NP_005262	P00367	DHE3_HUMAN	glutamate dehydrogenase 1 precursor	311					glutamate biosynthetic process|glutamate catabolic process|positive regulation of insulin secretion	mitochondrial matrix	ADP binding|ATP binding|glutamate dehydrogenase|glutamate dehydrogenase activity|GTP binding|identical protein binding|leucine binding|NAD+ binding				0					L-Glutamic Acid(DB00142)|NADH(DB00157)	AGGCCCACATTACCAAATCCC	0.373												
STAMBPL1	57559	broad.mit.edu	37	10	90665321	90665321	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr10:90665321A>G	uc001kfk.2	+	3	575	c.152A>G	c.(151-153)TAC>TGC	p.Y51C	STAMBPL1_uc010qmx.1_Missense_Mutation_p.Y51C|STAMBPL1_uc009xto.2_RNA|STAMBPL1_uc001kfl.2_Missense_Mutation_p.Y51C|STAMBPL1_uc001kfm.2_5'Flank	NM_020799	NP_065850	Q96FJ0	STALP_HUMAN	STAM binding protein-like 1	51							metal ion binding|metallopeptidase activity|protein binding			ovary(1)	1		Colorectal(252;0.0381)		Colorectal(12;6.38e-05)|COAD - Colon adenocarcinoma(12;7.75e-05)		CCACGACGTTACTTTAGGTCT	0.418												
NOC3L	64318	broad.mit.edu	37	10	96117944	96117944	+	Silent	SNP	T	T	C			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr10:96117944T>C	uc001kjq.1	-	3	334	c.246A>G	c.(244-246)GAA>GAG	p.E82E	NOC3L_uc009xuk.1_5'UTR	NM_022451	NP_071896	Q8WTT2	NOC3L_HUMAN	nucleolar complex associated 3 homolog	82						nuclear speck|nucleolus	binding			ovary(1)	1		Colorectal(252;0.0897)				CTTCTTCTTCTTCCTCTTCTT	0.358												
CYP2C19	1557	broad.mit.edu	37	10	96541727	96541727	+	Silent	SNP	T	T	C			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr10:96541727T>C	uc010qnz.1	+	5	792	c.792T>C	c.(790-792)ATT>ATC	p.I264I	CYP2C19_uc009xus.1_Silent_p.I129I|CYP2C19_uc010qny.1_Silent_p.I242I	NM_000769	NP_000760	P33261	CP2CJ_HUMAN	cytochrome P450, family 2, subfamily C,	264					exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity			ovary(4)|central_nervous_system(1)|skin(1)	6		Colorectal(252;0.09)		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582)	GGGACTTTATTGATTGCTTCC	0.338												
TM9SF3	56889	broad.mit.edu	37	10	98292872	98292872	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr10:98292872A>G	uc001kmm.3	-	10	1478	c.1261T>C	c.(1261-1263)TCA>CCA	p.S421P	TM9SF3_uc010qot.1_Missense_Mutation_p.S421P	NM_020123	NP_064508	Q9HD45	TM9S3_HUMAN	transmembrane 9 superfamily member 3 precursor	421						integral to membrane	binding				0		Colorectal(252;0.158)		Epithelial(162;1.84e-09)|all cancers(201;2.84e-08)		GGCTGACCTGACAGATTTCGG	0.388												
PYROXD2	84795	broad.mit.edu	37	10	100167414	100167414	+	Splice_Site	SNP	T	T	G			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr10:100167414T>G	uc001kpc.2	-	4	328	c.242_splice	c.e4-1	p.G81_splice	PYROXD2_uc001kpb.2_Splice_Site|PYROXD2_uc001kpd.2_Splice_Site|PYROXD2_uc010qpe.1_Splice_Site_p.G81_splice	NM_032709	NP_116098	Q8N2H3	PYRD2_HUMAN	pyridine nucleotide-disulphide oxidoreductase								oxidoreductase activity			central_nervous_system(1)	1						ACTTAAACCCTGAAACCGAAT	0.622												
CPN1	1369	broad.mit.edu	37	10	101841235	101841235	+	Missense_Mutation	SNP	T	T	G			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr10:101841235T>G	uc001kql.2	-	1	408	c.148A>C	c.(148-150)AGC>CGC	p.S50R		NM_001308	NP_001299	P15169	CBPN_HUMAN	carboxypeptidase N, polypeptide 1 precursor	50	Catalytic.				proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			central_nervous_system(3)|pancreas(1)	4		Colorectal(252;0.234)		Epithelial(162;4.77e-10)|all cancers(201;3.82e-08)		CGCCCAATGCTGTAGACCCGC	0.592												
GBF1	8729	broad.mit.edu	37	10	104117861	104117861	+	Silent	SNP	G	G	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr10:104117861G>A	uc001kux.1	+	9	945	c.705G>A	c.(703-705)CGG>CGA	p.R235R	GBF1_uc001kuw.2_Silent_p.R235R|GBF1_uc001kuy.1_Silent_p.R235R|GBF1_uc001kuz.1_Silent_p.R235R	NM_004193	NP_004184	Q92538	GBF1_HUMAN	golgi-specific brefeldin A resistant guanine	235					COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|regulation of ARF protein signal transduction|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane	ARF guanyl-nucleotide exchange factor activity|protein binding			ovary(1)|central_nervous_system(1)	2		Colorectal(252;0.0236)		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)		GATCCCCTCGGCCCCCACGCC	0.498												
NT5C2	22978	broad.mit.edu	37	10	104860806	104860806	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr10:104860806T>C	uc001kwo.2	-	8	721	c.535A>G	c.(535-537)ACC>GCC	p.T179A	NT5C2_uc010qqp.1_Missense_Mutation_p.T150A|NT5C2_uc001kwq.2_Missense_Mutation_p.T179A|NT5C2_uc001kwp.2_Translation_Start_Site	NM_012229	NP_036361	P49902	5NTC_HUMAN	5'-nucleotidase, cytosolic II	179					purine base metabolic process|purine nucleotide catabolic process	cytosol	5'-nucleotidase activity|metal ion binding|nucleotide binding|protein binding				0		all_hematologic(284;0.176)|Colorectal(252;0.178)		Epithelial(162;1.33e-08)|all cancers(201;1.04e-07)|BRCA - Breast invasive adenocarcinoma(275;0.159)	Adenosine triphosphate(DB00171)|Ribavirin(DB00811)	ACATACCTGGTATATCTGGGA	0.303												
NHLRC2	374354	broad.mit.edu	37	10	115639427	115639427	+	Silent	SNP	A	A	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr10:115639427A>T	uc001lax.1	+	4	1094	c.882A>T	c.(880-882)GCA>GCT	p.A294A		NM_198514	NP_940916	Q8NBF2	NHLC2_HUMAN	NHL repeat containing 2	294	NHL 2.				cell redox homeostasis					ovary(1)	1				Epithelial(162;0.017)|all cancers(201;0.0187)		TATATGTGGCAGACACTGAAA	0.289												
ATRNL1	26033	broad.mit.edu	37	10	116881571	116881571	+	Silent	SNP	A	A	G			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr10:116881571A>G	uc001lcg.2	+	3	872	c.486A>G	c.(484-486)GTA>GTG	p.V162V	ATRNL1_uc001lce.2_RNA|ATRNL1_uc001lcf.2_Silent_p.V162V|ATRNL1_uc009xyq.2_Silent_p.V162V	NM_207303	NP_997186	Q5VV63	ATRN1_HUMAN	attractin-like 1 precursor	162	CUB.|Extracellular (Potential).					integral to membrane	sugar binding			ovary(5)|lung(1)|central_nervous_system(1)	7		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		TAATAGCTGTACTTAGGTGAG	0.284												
KCNK18	338567	broad.mit.edu	37	10	118960795	118960795	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr10:118960795G>A	uc010qsr.1	+	2	349	c.349G>A	c.(349-351)GTG>ATG	p.V117M		NM_181840	NP_862823	Q7Z418	KCNKI_HUMAN	potassium channel, subfamily K, member 18	117						integral to membrane|plasma membrane				upper_aerodigestive_tract(1)	1		Colorectal(252;0.19)		all cancers(201;0.0211)		GTTCAGCACCGTGGGTAAGTG	0.562												
INPP5F	22876	broad.mit.edu	37	10	121587268	121587268	+	Silent	SNP	C	C	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr10:121587268C>T	uc001leo.2	+	20	3541	c.3375C>T	c.(3373-3375)TGC>TGT	p.C1125C	INPP5F_uc001lep.2_Silent_p.C515C	NM_014937	NP_055752	Q9Y2H2	SAC2_HUMAN	inositol polyphosphate-5-phosphatase F	1125							phosphoric ester hydrolase activity			ovary(2)	2		Lung NSC(174;0.109)|all_lung(145;0.142)		all cancers(201;0.00205)|BRCA - Breast invasive adenocarcinoma(275;0.158)		TTATACAATGCCAGACACGGA	0.328												
TACC2	10579	broad.mit.edu	37	10	123971212	123971212	+	Silent	SNP	G	G	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr10:123971212G>A	uc001lfv.2	+	9	7632	c.7272G>A	c.(7270-7272)ACG>ACA	p.T2424T	TACC2_uc001lfw.2_Silent_p.T570T|TACC2_uc009xzx.2_Silent_p.T2379T|TACC2_uc010qtv.1_Silent_p.T2428T|TACC2_uc001lfx.2_Silent_p.T128T|TACC2_uc001lfy.2_Silent_p.T128T|TACC2_uc001lfz.2_Silent_p.T502T|TACC2_uc001lga.2_Silent_p.T502T|TACC2_uc009xzy.2_Silent_p.T502T|TACC2_uc001lgb.2_Silent_p.T459T|TACC2_uc010qtw.1_Silent_p.T519T	NM_206862	NP_996744	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing	2424						microtubule organizing center|nucleus	nuclear hormone receptor binding			ovary(4)|breast(3)|skin(2)|central_nervous_system(1)	10		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				AGAAGAAGACGCCCCTAAAGA	0.557												
CTBP2	1488	broad.mit.edu	37	10	126683183	126683183	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr10:126683183T>C	uc009yak.2	-	7	922	c.635A>G	c.(634-636)TAC>TGC	p.Y212C	CTBP2_uc009yal.2_Missense_Mutation_p.Y212C|CTBP2_uc001lif.3_Missense_Mutation_p.Y212C|CTBP2_uc001lih.3_Missense_Mutation_p.Y212C|CTBP2_uc001lid.3_Missense_Mutation_p.Y280C|CTBP2_uc001lie.3_Missense_Mutation_p.Y752C	NM_001329	NP_001320	P56545	CTBP2_HUMAN	C-terminal binding protein 2 isoform 1	212					negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent|viral genome replication|white fat cell differentiation	cell junction|synapse|transcriptional repressor complex	NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein binding				0		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173)		Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147)		ATCCTGCAAGTAGGGGTCATA	0.567												
UROS	7390	broad.mit.edu	37	10	127504804	127504804	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr10:127504804G>A	uc001liw.3	-	2	222	c.89C>T	c.(88-90)GCC>GTC	p.A30V	UROS_uc001liv.3_5'Flank|UROS_uc010quh.1_RNA|UROS_uc001lix.3_Missense_Mutation_p.A30V|UROS_uc001liy.3_RNA|UROS_uc001liz.2_5'Flank	NM_000375	NP_000366	P10746	HEM4_HUMAN	uroporphyrinogen III synthase	30					heme biosynthetic process|uroporphyrinogen III biosynthetic process	cytosol|mitochondrion	uroporphyrinogen-III synthase activity				0		all_lung(145;0.00756)|Lung NSC(174;0.0116)|Colorectal(57;0.0855)|all_neural(114;0.0937)|Breast(234;0.203)				GATCAAAGTGGCTTCAAGTCC	0.368												
BNIP3	664	broad.mit.edu	37	10	133784230	133784230	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr10:133784230T>C	uc001lkv.1	-	5	577	c.451A>G	c.(451-453)ATG>GTG	p.M151V	BNIP3_uc001lku.1_5'Flank|BNIP3_uc010qut.1_Missense_Mutation_p.M151V	NM_004052	NP_004043	Q12983	BNIP3_HUMAN	BCL2/adenovirus E1B 19kD-interacting protein 3	151					cellular response to cobalt ion|cellular response to hypoxia|cellular response to mechanical stimulus|chromatin remodeling|defense response to virus|DNA fragmentation involved in apoptotic nuclear change|induction of apoptosis|interspecies interaction between organisms|mitochondrial fragmentation involved in apoptosis|negative regulation of membrane potential|negative regulation of mitochondrial fusion|negative regulation of survival gene product expression|neuron apoptosis|positive regulation of mitochondrial fission|positive regulation of protein complex disassembly|positive regulation of release of cytochrome c from mitochondria|reactive oxygen species metabolic process|regulation of mitochondrial membrane permeability	dendrite|integral to mitochondrial outer membrane|nuclear envelope|nucleoplasm	GTPase binding|protein heterodimerization activity|protein homodimerization activity			lung(1)|skin(1)	2		all_cancers(35;4e-11)|all_epithelial(44;5.07e-08)|Ovarian(717;2.61e-05)|Lung NSC(174;0.00237)|all_lung(145;0.00354)|Breast(234;0.023)|all_neural(114;0.0299)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)		Epithelial(32;1.59e-12)|all cancers(32;3.75e-11)|OV - Ovarian serous cystadenocarcinoma(35;2.57e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		CCTTTCTTCATGACGCTCGTG	0.522												
C10orf91	170393	broad.mit.edu	37	10	134261301	134261301	+	Silent	SNP	A	A	G			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr10:134261301A>G	uc001llm.2	+	3	214	c.174A>G	c.(172-174)AAA>AAG	p.K58K		NM_173541	NP_775812	Q5T1B1	CJ091_HUMAN	hypothetical protein LOC170393	58										ovary(1)	1		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;6.95e-05)|Epithelial(32;0.000142)|all cancers(32;0.000162)		TCACAGAGAAACCTCAGACAA	0.567												
ADAM8	101	broad.mit.edu	37	10	135083930	135083930	+	Silent	SNP	C	C	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr10:135083930C>T	uc010qva.1	-	15	1653	c.1602G>A	c.(1600-1602)GCG>GCA	p.A534A	ADAM8_uc010quz.1_Silent_p.A573A|ADAM8_uc009ybi.2_Silent_p.A573A			P78325	ADAM8_HUMAN	SubName: Full=cDNA FLJ50704, highly similar to ADAM 8 (EC 3.4.24.-) (A disintegrinand metalloproteinase domain 8);	534					integrin-mediated signaling pathway|proteolysis		metalloendopeptidase activity			large_intestine(2)|central_nervous_system(1)	3		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		all cancers(32;7.72e-06)|OV - Ovarian serous cystadenocarcinoma(35;8.23e-06)|Epithelial(32;1.02e-05)		CTGTGGTGAGCGCGTGGCACA	0.667												
TUBGCP2	10844	broad.mit.edu	37	10	135106172	135106172	+	Missense_Mutation	SNP	C	C	T	rs145003131		TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr10:135106172C>T	uc001lmg.1	-	8	1402	c.1045G>A	c.(1045-1047)GAA>AAA	p.E349K	TUBGCP2_uc001lmf.1_5'Flank|TUBGCP2_uc010qvc.1_Missense_Mutation_p.E377K|TUBGCP2_uc009ybk.1_Missense_Mutation_p.E349K|TUBGCP2_uc010qvd.1_Missense_Mutation_p.E219K|TUBGCP2_uc001lmh.1_RNA	NM_006659	NP_006650	Q9BSJ2	GCP2_HUMAN	tubulin, gamma complex associated protein 2	349					G2/M transition of mitotic cell cycle|microtubule nucleation|protein complex assembly	centrosome|cytoplasmic microtubule|cytosol|spindle pole	protein binding				0		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.87e-06)|all cancers(32;8.98e-06)|Epithelial(32;1.15e-05)		CCAAGACATTCGCCTTTGTCC	0.627												
LRDD	55367	broad.mit.edu	37	11	802043	802043	+	Silent	SNP	G	G	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr11:802043G>A	uc001lro.1	-	7	1366	c.1224C>T	c.(1222-1224)TGC>TGT	p.C408C	LRDD_uc009yck.1_RNA|LRDD_uc001lrk.1_Silent_p.C408C|LRDD_uc001lrl.1_Silent_p.C262C|LRDD_uc001lrm.1_Silent_p.C95C|LRDD_uc001lrn.1_Silent_p.C262C|LRDD_uc001lrp.1_5'UTR	NM_145886	NP_665893	Q9HB75	PIDD_HUMAN	leucine rich repeat and death domain containing	408	ZU5 1.				apoptosis|signal transduction	cytoplasm|nucleus	death receptor binding				0		all_cancers(49;1.13e-08)|all_epithelial(84;2.95e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.159)|all_lung(207;0.198)		all cancers(45;1.45e-25)|Epithelial(43;1.17e-24)|OV - Ovarian serous cystadenocarcinoma(40;6.76e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CCACTTCACGGCAGCGCCGGG	0.672												
AP2A2	161	broad.mit.edu	37	11	959505	959505	+	Missense_Mutation	SNP	G	G	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr11:959505G>T	uc001lss.2	+	2	317	c.136G>T	c.(136-138)GGT>TGT	p.G46C	AP2A2_uc001lst.1_Missense_Mutation_p.G46C|AP2A2_uc009yco.1_RNA	NM_012305	NP_036437	O94973	AP2A2_HUMAN	adaptor-related protein complex 2, alpha 2	46	Lipid-binding.				axon guidance|endocytosis|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|viral reproduction	AP-2 adaptor complex|cytosol	lipid binding|protein transporter activity				0		all_cancers(49;9.46e-06)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.75e-24)|BRCA - Breast invasive adenocarcinoma(625;5.73e-05)|Lung(200;0.0696)|LUSC - Lung squamous cell carcinoma(625;0.082)		AAAATTTAAAGGTAAGTATGT	0.289												
SYT8	90019	broad.mit.edu	37	11	1858627	1858627	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr11:1858627G>A	uc001lue.1	+	9	1300	c.1172G>A	c.(1171-1173)CGC>CAC	p.R391H	SYT8_uc001lud.2_Missense_Mutation_p.R391H|SYT8_uc001luf.1_Missense_Mutation_p.R377H|TNNI2_uc010qxc.1_5'Flank|TNNI2_uc010qxd.1_5'Flank|TNNI2_uc010qxe.1_5'Flank	NM_138567	NP_612634	Q8NBV8	SYT8_HUMAN	synaptotagmin VIII	391	Cytoplasmic (Potential).					acrosomal vesicle|integral to membrane|plasma membrane|synaptic vesicle	transporter activity			ovary(1)	1		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		CTGCAGCCCCGCCTTCGCCTG	0.726												
TH	7054	broad.mit.edu	37	11	2192945	2192945	+	Silent	SNP	C	C	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr11:2192945C>T	uc001lvq.2	-	1	91	c.72G>A	c.(70-72)AAG>AAA	p.K24K	TH_uc001lvp.2_Silent_p.K24K|TH_uc001lvr.2_Silent_p.K24K|TH_uc010qxj.1_Silent_p.K24K|TH_uc001lvs.2_Silent_p.K24K|TH_uc001lvt.2_Silent_p.K24K	NM_199292	NP_954986	P07101	TY3H_HUMAN	tyrosine hydroxylase isoform a	24					dopamine biosynthetic process from tyrosine|embryonic camera-type eye morphogenesis|epinephrine biosynthetic process|eye photoreceptor cell development|heart morphogenesis|hormone biosynthetic process|learning|locomotory behavior|memory|neurotransmitter biosynthetic process|neurotransmitter secretion|norepinephrine biosynthetic process|pigmentation|regulation of heart contraction|response to ethanol|response to hypoxia|synaptic transmission, dopaminergic|visual perception	cytosol|internal side of plasma membrane|melanosome membrane|nucleus|perikaryon|smooth endoplasmic reticulum	protein binding|tyrosine 3-monooxygenase activity				0		all_epithelial(84;1.46e-23)|Lung NSC(207;4.44e-11)|all_lung(207;1.11e-09)|Ovarian(85;1.78e-06)|Breast(177;1.78e-05)|Medulloblastoma(188;0.0208)|all_neural(188;0.0416)	Colorectal(5;0.00245)|COAD - Colon adenocarcinoma(6;0.0239)	BRCA - Breast invasive adenocarcinoma(625;8.45e-09)|Lung(200;0.000152)|LUSC - Lung squamous cell carcinoma(625;0.00154)	L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Metyrosine(DB00765)|Tetrahydrobiopterin(DB00360)	CCTCTGCCTGCTTGGCGTCCA	0.701												
OSBPL5	114879	broad.mit.edu	37	11	3141754	3141754	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr11:3141754G>A	uc001lxk.2	-	6	661	c.503C>T	c.(502-504)ACG>ATG	p.T168M	OSBPL5_uc010qxq.1_Intron|OSBPL5_uc009ydw.2_Intron|OSBPL5_uc001lxl.2_Intron|OSBPL5_uc009ydx.2_Missense_Mutation_p.T192M	NM_020896	NP_065947	Q9H0X9	OSBL5_HUMAN	oxysterol-binding protein-like protein 5 isoform	168	PH.				cholesterol metabolic process|cholesterol transport|Golgi to plasma membrane transport	cytosol	oxysterol binding|protein binding			large_intestine(2)|central_nervous_system(1)	3		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)		CAGCAGCACCGTGCCCACCCA	0.647												
ZNF195	7748	broad.mit.edu	37	11	3380779	3380779	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr11:3380779T>C	uc001lxt.2	-	6	1637	c.1459A>G	c.(1459-1461)ACT>GCT	p.T487A	uc001lxr.2_5'Flank|ZNF195_uc001lxv.2_Missense_Mutation_p.T464A|ZNF195_uc001lxs.2_Missense_Mutation_p.T415A|ZNF195_uc010qxr.1_Missense_Mutation_p.T468A|ZNF195_uc009ydz.2_Missense_Mutation_p.T442A|ZNF195_uc001lxu.2_Missense_Mutation_p.T419A	NM_001130520	NP_001123992	O14628	ZN195_HUMAN	zinc finger protein 195 isoform 1	487	C2H2-type 5.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Medulloblastoma(188;0.00106)|Breast(177;0.00328)|all_neural(188;0.00681)|Ovarian(85;0.00965)		BRCA - Breast invasive adenocarcinoma(625;0.0361)|LUSC - Lung squamous cell carcinoma(625;0.2)		TCAGAATGAGTTCTCTTATGG	0.428												
OR51B2	79345	broad.mit.edu	37	11	5345074	5345074	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr11:5345074C>T	uc001mao.1	-	1	509	c.454G>A	c.(454-456)GTA>ATA	p.V152I	HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron	NM_033180	NP_149420	Q9Y5P1	O51B2_HUMAN	olfactory receptor, family 51, subfamily B,	152	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|skin(1)	3		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGGATGGATACAAAACCCCTT	0.403												
OR51I1	390063	broad.mit.edu	37	11	5462728	5462728	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr11:5462728C>T	uc010qze.1	-	1	17	c.17G>A	c.(16-18)GGC>GAC	p.G6D	HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc001maq.1_Intron	NM_001005288	NP_001005288	Q9H343	O51I1_HUMAN	olfactory receptor, family 51, subfamily I,	6	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GAAGGGGGTGCCATTGAGACC	0.507												
APBB1	322	broad.mit.edu	37	11	6432080	6432080	+	Missense_Mutation	SNP	A	A	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr11:6432080A>T	uc001mdb.1	-	2	598	c.498T>A	c.(496-498)GAT>GAA	p.D166E	APBB1_uc001mdc.1_Missense_Mutation_p.D166E|APBB1_uc010rah.1_Intron	NM_001164	NP_001155	O00213	APBB1_HUMAN	amyloid beta A4 precursor protein-binding,	166	Glu-rich.				apoptosis|axonogenesis|cell cycle arrest|histone H4 acetylation|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of thymidylate synthase biosynthetic process|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|signal transduction|transcription, DNA-dependent	cytoplasm|growth cone|lamellipodium|nucleus|plasma membrane|synapse	beta-amyloid binding|chromatin binding|histone binding|proline-rich region binding|transcription factor binding			breast(2)	2		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;6.49e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)		cctcctcttcatcatcatcat	0.408												
OR2AG2	338755	broad.mit.edu	37	11	6789258	6789258	+	Silent	SNP	G	G	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr11:6789258G>A	uc001meq.1	-	1	931	c.931C>T	c.(931-933)CTG>TTG	p.L311L		NM_001004490	NP_001004490	A6NM03	O2AG2_HUMAN	olfactory receptor, family 2, subfamily AG,	311	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)|ovary(1)|central_nervous_system(1)	4		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)		Epithelial(150;2.15e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		GAATGTGCCAGCAGTATGTAT	0.483												
OLFML1	283298	broad.mit.edu	37	11	7531212	7531212	+	Silent	SNP	G	G	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr11:7531212G>T	uc001mfi.2	+	3	1354	c.1002G>T	c.(1000-1002)GGG>GGT	p.G334G	OLFML1_uc010raz.1_Silent_p.G198G|OLFML1_uc010rba.1_Silent_p.G334G	NM_198474	NP_940876	Q6UWY5	OLFL1_HUMAN	olfactomedin-like 1 precursor	334	Olfactomedin-like.					extracellular region				ovary(2)	2				Epithelial(150;6.96e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)		ACAGTACTGGGGGCCAGGGCC	0.542												
CYB5R2	51700	broad.mit.edu	37	11	7687700	7687700	+	Missense_Mutation	SNP	G	G	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr11:7687700G>T	uc001mfm.2	-	8	878	c.640C>A	c.(640-642)CTG>ATG	p.L214M	CYB5R2_uc001mfn.2_RNA|CYB5R2_uc009yfk.2_Missense_Mutation_p.L214M	NM_016229	NP_057313	Q6BCY4	NB5R2_HUMAN	cytochrome b5 reductase b5R.2	214					sterol biosynthetic process	membrane|soluble fraction	cytochrome-b5 reductase activity				0				Epithelial(150;5.48e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		GGCCTGTCCAGGGTGTACCAC	0.498											OREG0020724	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
SCUBE2	57758	broad.mit.edu	37	11	9096091	9096091	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr11:9096091A>G	uc001mhh.1	-	4	534	c.454T>C	c.(454-456)TGC>CGC	p.C152R	SCUBE2_uc001mhi.1_Missense_Mutation_p.C152R|SCUBE2_uc001mhj.1_Missense_Mutation_p.C152R	NM_020974	NP_066025	Q9NQ36	SCUB2_HUMAN	CEGP1 protein precursor	152	EGF-like 3; calcium-binding (Potential).					extracellular region	calcium ion binding			ovary(1)|skin(1)	2				all cancers(16;8.57e-09)|Epithelial(150;4.42e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0116)		TTGCAGCAGCACTCATAGCTC	0.567												
ZNF143	7702	broad.mit.edu	37	11	9530309	9530309	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr11:9530309A>G	uc001mhr.2	+	12	1409	c.1291A>G	c.(1291-1293)ACG>GCG	p.T431A	ZNF143_uc009yfu.2_Missense_Mutation_p.T430A|ZNF143_uc010rby.1_Missense_Mutation_p.T400A	NM_003442	NP_003433	P52747	ZN143_HUMAN	zinc finger protein 143	431	C2H2-type 7.				regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding|zinc ion binding				0				all cancers(16;4.12e-09)|Epithelial(150;2.29e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0212)		GCAGATCTCCACGCTGGCCAT	0.493												
FAR1	84188	broad.mit.edu	37	11	13732384	13732384	+	Silent	SNP	G	G	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr11:13732384G>A	uc001mld.2	+	5	845	c.690G>A	c.(688-690)TCG>TCA	p.S230S	FAR1_uc009ygp.2_Silent_p.S230S	NM_032228	NP_115604	Q8WVX9	FACR1_HUMAN	fatty acyl CoA reductase 1	230					ether lipid biosynthetic process	integral to membrane|peroxisomal matrix|peroxisomal membrane	protein binding			ovary(1)|skin(1)	2						TAAGGCCATCGATTGTTGGTG	0.343												
MRGPRX3	117195	broad.mit.edu	37	11	18159005	18159005	+	Missense_Mutation	SNP	C	C	T	rs141255495		TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr11:18159005C>T	uc001mnu.2	+	3	617	c.256C>T	c.(256-258)CGC>TGC	p.R86C		NM_054031	NP_473372	Q96LB0	MRGX3_HUMAN	MAS-related GPR, member X3	86	Extracellular (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(1)|pancreas(1)	2						TTCGCCGTTACGCCTCATCAA	0.547												
SLC6A5	9152	broad.mit.edu	37	11	20622906	20622906	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr11:20622906T>C	uc001mqd.2	+	2	508	c.235T>C	c.(235-237)TCT>CCT	p.S79P	SLC6A5_uc009yic.2_5'UTR	NM_004211	NP_004202	Q9Y345	SC6A5_HUMAN	solute carrier family 6 (neurotransmitter	79	Cytoplasmic (Potential).				synaptic transmission	integral to membrane|plasma membrane	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity			ovary(2)|breast(1)|skin(1)	4					Glycine(DB00145)	AGGAGTGGGGTCTTGCAAACT	0.726												
LUZP2	338645	broad.mit.edu	37	11	24518834	24518834	+	Silent	SNP	G	G	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr11:24518834G>A	uc001mqs.2	+	1	279	c.45G>A	c.(43-45)GCG>GCA	p.A15A	LUZP2_uc009yif.2_5'UTR|LUZP2_uc009yig.2_Silent_p.A15A	NM_001009909	NP_001009909	Q86TE4	LUZP2_HUMAN	leucine zipper protein 2 precursor	15						extracellular region				ovary(1)|skin(1)	2						TCCTGCCTGCGCTGGTCCTCA	0.662												
BDNF	627	broad.mit.edu	37	11	27679694	27679694	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr11:27679694C>T	uc010rdu.1	-	2	1269	c.418G>A	c.(418-420)GTG>ATG	p.V140M	BDNFOS_uc001mrm.2_Intron|BDNFOS_uc009yij.2_Intron|BDNFOS_uc009yik.2_Intron|BDNFOS_uc009yil.2_Intron|BDNFOS_uc001mrp.2_Intron|BDNFOS_uc009yim.2_Intron|BDNFOS_uc009yin.2_Intron|BDNFOS_uc009yio.2_Intron|BDNFOS_uc009yip.2_Intron|BDNFOS_uc001mrn.2_Intron|BDNFOS_uc009yiq.2_Intron|BDNFOS_uc001mro.2_Intron|BDNFOS_uc009yir.2_Intron|BDNFOS_uc009yis.2_Intron|BDNFOS_uc009yit.2_Intron|BDNFOS_uc009yiu.2_Intron|BDNFOS_uc009yiv.2_Intron|BDNFOS_uc009yiw.2_Intron|BDNFOS_uc009yix.2_Intron|BDNFOS_uc009yiy.2_Intron|BDNFOS_uc009yiz.2_Intron|BDNFOS_uc001mrq.3_Intron|BDNFOS_uc001mrr.3_Intron|BDNFOS_uc009yja.2_Intron|BDNFOS_uc009yjb.2_Intron|BDNF_uc010rdv.1_Missense_Mutation_p.V140M|BDNF_uc001mrt.2_Missense_Mutation_p.V155M|BDNF_uc010rdw.1_Missense_Mutation_p.V140M|BDNF_uc009yjd.2_Missense_Mutation_p.V140M|BDNF_uc001mru.2_Missense_Mutation_p.V140M|BDNF_uc010rdx.1_Missense_Mutation_p.V140M|BDNF_uc010rdy.1_Missense_Mutation_p.V140M|BDNF_uc009yjg.2_Missense_Mutation_p.V140M|BDNF_uc009yje.2_Missense_Mutation_p.V222M|BDNF_uc009yjf.2_Missense_Mutation_p.V169M|BDNF_uc001mrv.2_Missense_Mutation_p.V140M|BDNF_uc001mrw.3_Missense_Mutation_p.V140M|BDNF_uc001mrx.2_Missense_Mutation_p.V140M|BDNF_uc001mry.3_Missense_Mutation_p.V140M|BDNF_uc001mrz.3_Missense_Mutation_p.V140M|BDNF_uc001msa.2_Missense_Mutation_p.V148M	NM_001143816	NP_001137288	P23560	BDNF_HUMAN	brain-derived neurotrophic factor isoform a	140						extracellular region	growth factor activity				0						CTGTCACACACGCTCAGCTCC	0.542												
CAT	847	broad.mit.edu	37	11	34470818	34470818	+	Missense_Mutation	SNP	C	C	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr11:34470818C>A	uc001mvm.2	+	2	229	c.146C>A	c.(145-147)CCC>CAC	p.P49H	CAT_uc009ykc.1_RNA	NM_001752	NP_001743	P04040	CATA_HUMAN	catalase	49					hydrogen peroxide catabolic process|negative regulation of apoptosis|positive regulation of cell division|protein tetramerization|purine base metabolic process|purine nucleotide catabolic process|UV protection	peroxisomal matrix|peroxisomal membrane	catalase activity|heme binding|NADP binding|protein homodimerization activity			ovary(2)|pancreas(1)	3		Lung NSC(402;2.76e-08)|Acute lymphoblastic leukemia(5;0.00143)|all_hematologic(20;0.0116)|Melanoma(852;0.027)		BRCA - Breast invasive adenocarcinoma(625;0.000995)	Fomepizole(DB01213)	CCCCGTGGGCCCCTTCTTGTT	0.468												
RAG2	5897	broad.mit.edu	37	11	36615184	36615184	+	Missense_Mutation	SNP	G	G	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr11:36615184G>T	uc001mwv.3	-	2	723	c.535C>A	c.(535-537)CTG>ATG	p.L179M	C11orf74_uc010rfd.1_5'Flank|C11orf74_uc001mww.1_5'Flank|C11orf74_uc001mwx.1_5'Flank|C11orf74_uc001mwy.1_5'Flank|C11orf74_uc001mwz.1_5'Flank|C11orf74_uc010rfe.1_5'Flank	NM_000536	NP_000527	P55895	RAG2_HUMAN	recombination activating gene 2	179					chromatin modification|pre-B cell allelic exclusion|somatic diversification of immunoglobulins|T cell differentiation in thymus|V(D)J recombination	nucleus	chromatin binding|DNA binding|endonuclease activity|methylated histone residue binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-4,5-bisphosphate binding|zinc ion binding			skin(3)|ovary(1)|pancreas(1)	5	all_lung(20;0.226)	all_hematologic(20;0.00756)				ACACAGGGCAGGCAGTCAGCT	0.453									Familial_Hemophagocytic_Lymphohistiocytosis			
CREB3L1	90993	broad.mit.edu	37	11	46338915	46338915	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr11:46338915G>A	uc001ncf.2	+	10	1570	c.1135G>A	c.(1135-1137)GCA>ACA	p.A379T	CREB3L1_uc001ncg.2_Missense_Mutation_p.A13T	NM_052854	NP_443086	Q96BA8	CR3L1_HUMAN	cAMP responsive element binding protein 3-like	379	Helical; Signal-anchor for type II membrane protein; (Potential).				response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		FUS/CREB3L1(6)	soft_tissue(6)|ovary(2)	8				GBM - Glioblastoma multiforme(35;0.0285)		CTACCAGGTGGCAGCCTTGTG	0.617			T	FUS	myxofibrosarcoma							
LRP4	4038	broad.mit.edu	37	11	46917831	46917831	+	Silent	SNP	C	C	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr11:46917831C>A	uc001ndn.3	-	9	1124	c.978G>T	c.(976-978)GGG>GGT	p.G326G		NM_002334	NP_002325	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein	326	Extracellular (Potential).|LDL-receptor class A 8.				endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity			skin(2)|upper_aerodigestive_tract(1)|ovary(1)	4				Lung(87;0.159)		GCTTCCTCTGCCCAATGCAGC	0.607												
MYBPC3	4607	broad.mit.edu	37	11	47353733	47353733	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr11:47353733A>G	uc001nfa.3	-	32	3759	c.3704T>C	c.(3703-3705)GTG>GCG	p.V1235A		NM_000256	NP_000247	Q14896	MYPC3_HUMAN	myosin binding protein C, cardiac	1234	Ig-like C2-type 7.				cardiac muscle contraction|cell adhesion|muscle filament sliding|regulation of muscle filament sliding|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis	C zone|cytosol|striated muscle myosin thick filament	actin binding|ATPase activator activity|metal ion binding|myosin heavy chain binding|structural constituent of muscle|titin binding			ovary(2)|central_nervous_system(1)	3				Lung(87;0.176)		CAGAGTCAACACTCCCTGCTT	0.557												
FOLH1	2346	broad.mit.edu	37	11	49208219	49208219	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr11:49208219C>T	uc001ngy.2	-	5	877	c.616G>A	c.(616-618)GGG>AGG	p.G206R	FOLH1_uc001ngz.2_Missense_Mutation_p.G206R|FOLH1_uc009yly.2_Missense_Mutation_p.G191R|FOLH1_uc009ylz.2_Missense_Mutation_p.G191R|FOLH1_uc009yma.2_5'UTR	NM_004476	NP_004467	Q04609	FOLH1_HUMAN	folate hydrolase 1 isoform 1	206	Extracellular (Probable).				proteolysis	cytoplasm|integral to plasma membrane|membrane fraction|nucleus	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity			large_intestine(1)|ovary(1)|skin(1)	3					Capromab(DB00089)|L-Glutamic Acid(DB00142)	AAAACTTTCCCATATCTGGCA	0.338												
OR4S2	219431	broad.mit.edu	37	11	55418630	55418630	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr11:55418630T>C	uc001nhs.1	+	1	251	c.251T>C	c.(250-252)TTA>TCA	p.L84S		NM_001004059	NP_001004059	Q8NH73	OR4S2_HUMAN	olfactory receptor, family 4, subfamily S,	84	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)|ovary(1)	3		all_epithelial(135;0.0748)				GTTGACCTGTTAGCAAAGGAC	0.418												
OR5M9	390162	broad.mit.edu	37	11	56230509	56230509	+	Silent	SNP	G	G	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr11:56230509G>A	uc010rjj.1	-	1	369	c.369C>T	c.(367-369)GCC>GCT	p.A123A		NM_001004743	NP_001004743	Q8NGP3	OR5M9_HUMAN	olfactory receptor, family 5, subfamily M,	123	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)|ovary(1)|central_nervous_system(1)	4	Esophageal squamous(21;0.00448)					GGTTGCAGCCGGCCATGTACC	0.483												
APLNR	187	broad.mit.edu	37	11	57003943	57003943	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr11:57003943A>G	uc001njo.2	-	1	985	c.536T>C	c.(535-537)GTG>GCG	p.V179A	APLNR_uc001njn.3_RNA	NM_005161	NP_005152	P35414	APJ_HUMAN	apelin receptor	179	Extracellular (Potential).					integral to plasma membrane	G-protein coupled receptor activity			lung(5)|ovary(1)	6						GTAGCACTGCACCTTAGTGGT	0.637												
OR10Q1	219960	broad.mit.edu	37	11	57995687	57995687	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr11:57995687C>T	uc010rkd.1	-	1	661	c.661G>A	c.(661-663)GTC>ATC	p.V221I		NM_001004471	NP_001004471	Q8NGQ4	O10Q1_HUMAN	olfactory receptor, family 10, subfamily Q,	221	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2		Breast(21;0.0589)				ACGTAGGAGACGCAGATGAGC	0.642												
CNTF	1270	broad.mit.edu	37	11	58391580	58391580	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr11:58391580A>G	uc001nna.3	+	2	268	c.188A>G	c.(187-189)CAG>CGG	p.Q63R	ZFP91-CNTF_uc010rkm.1_RNA	NM_000614	NP_000605	P26441	CNTF_HUMAN	ciliary neurotrophic factor	63					ciliary neurotrophic factor-mediated signaling pathway|growth|negative regulation of neuron apoptosis|positive regulation of tyrosine phosphorylation of Stat3 protein		ciliary neurotrophic factor receptor binding|growth factor activity|interleukin-6 receptor binding			ovary(1)	1		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)				AGCACTGATCAGTGGAGTGAG	0.537												
CD6	923	broad.mit.edu	37	11	60777101	60777101	+	Missense_Mutation	SNP	T	T	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr11:60777101T>A	uc001nqq.2	+	5	1062	c.839T>A	c.(838-840)GTA>GAA	p.V280E	CD6_uc009yni.2_Intron|CD6_uc009ynj.2_Intron|CD6_uc001nqp.2_Missense_Mutation_p.V280E|CD6_uc001nqr.2_Missense_Mutation_p.V280E|CD6_uc001nqs.2_RNA|CD6_uc001nqt.2_Missense_Mutation_p.V280E	NM_006725	NP_006716	P30203	CD6_HUMAN	CD6 molecule precursor	280	SRCR 3.|Extracellular (Potential).				cell adhesion	cell surface|integral to plasma membrane	scavenger receptor activity			pancreas(1)	1						CAGGTGGAGGTACACTTCCGA	0.627												
CD5	921	broad.mit.edu	37	11	60885876	60885876	+	Silent	SNP	C	C	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr11:60885876C>T	uc009ynk.2	+	3	427	c.324C>T	c.(322-324)TAC>TAT	p.Y108Y		NM_014207	NP_055022	P06127	CD5_HUMAN	CD5 molecule precursor	108	Extracellular (Potential).|SRCR 1.				cell proliferation|cell recognition	integral to plasma membrane	scavenger receptor activity			ovary(1)	1		all_lung(304;5.94e-05)|Lung NSC(402;7.26e-05)		BRCA - Breast invasive adenocarcinoma(625;0.000946)|Lung(977;0.0086)|LUSC - Lung squamous cell carcinoma(625;0.0528)		TCATCTGCTACGGACAACTGG	0.562												
DAGLA	747	broad.mit.edu	37	11	61490373	61490373	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr11:61490373T>C	uc001nsa.2	+	4	461	c.350T>C	c.(349-351)GTC>GCC	p.V117A		NM_006133	NP_006124	Q9Y4D2	DGLA_HUMAN	neural stem cell-derived dendrite regulator	117	Helical; (Potential).				cell death|lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity			ovary(2)|central_nervous_system(1)	3				READ - Rectum adenocarcinoma(4;0.219)		GTGGGCATCGTCTGGCTCACT	0.612												
FADS2	9415	broad.mit.edu	37	11	61632650	61632650	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr11:61632650A>G	uc001nsl.1	+	11	1334	c.1184A>G	c.(1183-1185)AAC>AGC	p.N395S	FADS2_uc001nsj.2_Missense_Mutation_p.N373S|FADS2_uc010rlo.1_Missense_Mutation_p.N364S	NM_004265	NP_004256	O95864	FADS2_HUMAN	fatty acid desaturase 2	395	Cytoplasmic (Potential).				electron transport chain|transport|unsaturated fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction	heme binding			ovary(1)|pancreas(1)	2					Alpha-Linolenic Acid(DB00132)	CCCCGGCACAACTTACACAAG	0.602												
INCENP	3619	broad.mit.edu	37	11	61908215	61908215	+	Silent	SNP	C	C	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr11:61908215C>T	uc001nsw.1	+	9	1585	c.1383C>T	c.(1381-1383)GAC>GAT	p.D461D	INCENP_uc009ynw.1_Silent_p.D461D|INCENP_uc001nsx.1_Silent_p.D461D	NM_001040694	NP_001035784	Q9NQS7	INCE_HUMAN	inner centromere protein antigens 135/155kDa	461					chromosome segregation|cytokinesis|mitotic prometaphase	centromeric heterochromatin|condensed chromosome kinetochore|cytosol|microtubule|spindle	protein binding			lung(1)	1						GTGAGCTGGACGAGGAGCAGC	0.687												
AHNAK	79026	broad.mit.edu	37	11	62301479	62301479	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr11:62301479T>C	uc001ntl.2	-	5	710	c.410A>G	c.(409-411)GAT>GGT	p.D137G	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	AHNAK nucleoprotein isoform 1	137					nervous system development	nucleus	protein binding			ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1)	19		Melanoma(852;0.155)				TTCCACTCCATCTTCCGACTT	0.602												
RARRES3	5920	broad.mit.edu	37	11	63312165	63312165	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr11:63312165G>A	uc001nxf.3	+	3	259	c.191G>A	c.(190-192)CGC>CAC	p.R64H		NM_004585	NP_004576	Q9UL19	TIG3_HUMAN	retinoic acid receptor responder (tazarotene	64					lipid catabolic process|negative regulation of cell proliferation		hydrolase activity			ovary(1)	1						AAACGGGAGCGCCTGGAAGAT	0.582												
PYGM	5837	broad.mit.edu	37	11	64527327	64527327	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr11:64527327C>T	uc001oax.3	-	1	861	c.44G>A	c.(43-45)AGT>AAT	p.S15N	PYGM_uc001oay.3_Missense_Mutation_p.S15N	NM_005609	NP_005600	P11217	PYGM_HUMAN	muscle glycogen phosphorylase isoform 1	15					glucose metabolic process|glycogen catabolic process	cytosol	glycogen phosphorylase activity|protein binding			ovary(2)	2					Pyridoxal Phosphate(DB00114)	GCCACGCACACTGATTTGCTT	0.597												
CAPN1	823	broad.mit.edu	37	11	64972271	64972271	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr11:64972271G>A	uc009yqd.1	+	11	1394	c.1283G>A	c.(1282-1284)CGT>CAT	p.R428H	CAPN1_uc001odf.1_Missense_Mutation_p.R428H|CAPN1_uc001odg.1_Missense_Mutation_p.R428H|CAPN1_uc010roa.1_Missense_Mutation_p.R169H	NM_005186	NP_005177	P07384	CAN1_HUMAN	calpain 1, large subunit	428	Domain III.				positive regulation of cell proliferation|proteolysis	cytoplasm|plasma membrane	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity|protein binding			ovary(1)	1		Lung NSC(402;0.094)|Melanoma(852;0.16)		Lung(977;0.00168)|LUSC - Lung squamous cell carcinoma(976;0.00813)		CAGAAGCACCGTCGCCGCGAG	0.637											OREG0021073	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
FRMD8	83786	broad.mit.edu	37	11	65172535	65172535	+	Missense_Mutation	SNP	G	G	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr11:65172535G>T	uc001odu.3	+	10	1464	c.1272G>T	c.(1270-1272)GAG>GAT	p.E424D	FRMD8_uc009yqj.2_Missense_Mutation_p.E368D|FRMD8_uc010rof.1_Missense_Mutation_p.E390D	NM_031904	NP_114110	Q9BZ67	FRMD8_HUMAN	FERM domain containing 8	424						cytoskeleton	binding			lung(1)|pancreas(1)	2						ACTACGTGGAGGACGGTGAGC	0.632												
SCYL1	57410	broad.mit.edu	37	11	65298114	65298114	+	Silent	SNP	C	C	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr11:65298114C>T	uc001oea.1	+	7	941	c.864C>T	c.(862-864)GCC>GCT	p.A288A	SCYL1_uc009yqk.2_Silent_p.A288A|SCYL1_uc001oeb.1_Silent_p.A288A|SCYL1_uc001oec.1_Silent_p.A288A|SCYL1_uc001oed.1_Silent_p.A145A|SCYL1_uc001oee.1_5'UTR	NM_020680	NP_065731	Q96KG9	NTKL_HUMAN	SCY1-like 1 isoform A	288	Protein kinase.				regulation of transcription, DNA-dependent|retrograde vesicle-mediated transport, Golgi to ER|transcription, DNA-dependent	cis-Golgi network|COPI vesicle coat|ER-Golgi intermediate compartment|microtubule organizing center|nucleus	ATP binding|DNA binding|protein tyrosine kinase activity			skin(1)	1						AAGAGCCAGCCGAGAAGCAAA	0.582												
SART1	9092	broad.mit.edu	37	11	65729303	65729303	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr11:65729303G>A	uc001ogl.2	+	1	144	c.52G>A	c.(52-54)GCG>ACG	p.A18T	SART1_uc009yqy.1_Missense_Mutation_p.A18T|SART1_uc010rot.1_5'UTR	NM_005146	NP_005137	O43290	SNUT1_HUMAN	squamous cell carcinoma antigen recognized by T	18					cell cycle arrest|induction of apoptosis by intracellular signals|positive regulation of cytotoxic T cell differentiation|spliceosomal snRNP assembly	Cajal body|catalytic step 2 spliceosome|cytosol				ovary(1)	1						cgggacgacggcggcggccgg	0.264												
SART1	9092	broad.mit.edu	37	11	65746378	65746378	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr11:65746378A>G	uc001ogl.2	+	19	2469	c.2377A>G	c.(2377-2379)ATG>GTG	p.M793V		NM_005146	NP_005137	O43290	SNUT1_HUMAN	squamous cell carcinoma antigen recognized by T	793					cell cycle arrest|induction of apoptosis by intracellular signals|positive regulation of cytotoxic T cell differentiation|spliceosomal snRNP assembly	Cajal body|catalytic step 2 spliceosome|cytosol				ovary(1)	1						CGGCAAGAGCATGAACGCGTG	0.542												
CATSPER1	117144	broad.mit.edu	37	11	65788382	65788382	+	Silent	SNP	G	G	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr11:65788382G>A	uc001ogt.2	-	6	1965	c.1827C>T	c.(1825-1827)GAC>GAT	p.D609D		NM_053054	NP_444282	Q8NEC5	CTSR1_HUMAN	sperm-associated cation channel 1	609	Extracellular (Potential).				cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	protein binding			ovary(2)	2						AGCGCTTGGGGTCAGATTTGC	0.602												
SLC29A2	3177	broad.mit.edu	37	11	66136862	66136862	+	Missense_Mutation	SNP	G	G	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr11:66136862G>T	uc001oht.2	-	3	482	c.253C>A	c.(253-255)CTC>ATC	p.L85I	SLC29A2_uc001ohs.2_5'UTR|SLC29A2_uc010rpb.1_RNA|SLC29A2_uc009yrf.2_5'UTR|SLC29A2_uc001ohu.2_Missense_Mutation_p.L85I|SLC29A2_uc001ohv.2_Missense_Mutation_p.L85I|uc001ohw.1_RNA	NM_001532	NP_001523	Q14542	S29A2_HUMAN	solute carrier family 29 (nucleoside	85	Helical; (Potential).				cell proliferation|nucleobase, nucleoside and nucleotide metabolic process	basolateral plasma membrane|integral to plasma membrane|nuclear membrane|nucleolus	nucleoside transmembrane transporter activity			ovary(1)	1						AAGGAGTTGAGGAGGGTGAAG	0.647												
SPTBN2	6712	broad.mit.edu	37	11	66472378	66472378	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr11:66472378C>T	uc001ojd.2	-	14	2441	c.2369G>A	c.(2368-2370)CGG>CAG	p.R790Q		NM_006946	NP_008877	O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	790	Spectrin 5.				actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton			large_intestine(1)|pancreas(1)|central_nervous_system(1)|skin(1)	4						CTCCAGGGCCCGATGCTGCCT	0.677												
C11orf80	79703	broad.mit.edu	37	11	66581352	66581352	+	Missense_Mutation	SNP	C	C	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr11:66581352C>A	uc001ojf.2	+	10	1062	c.1055C>A	c.(1054-1056)CCT>CAT	p.P352H	C11orf80_uc001ojg.2_Missense_Mutation_p.P119H|C11orf80_uc001ojh.2_Missense_Mutation_p.P120H|C11orf80_uc001oji.2_Missense_Mutation_p.P120H|C11orf80_uc010rpl.1_5'UTR|C11orf80_uc001ojj.2_5'UTR	NM_024650	NP_078926	Q8N6T0	CK080_HUMAN	hypothetical protein LOC79703	197											0						CTATATGGACCTTTGGGTCTG	0.358												
RHOD	29984	broad.mit.edu	37	11	66833381	66833381	+	Silent	SNP	G	G	A	rs147100013		TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr11:66833381G>A	uc001ojv.2	+	2	232	c.147G>A	c.(145-147)ACG>ACA	p.T49T		NM_014578	NP_055393	O00212	RHOD_HUMAN	ras homolog D precursor	49	Effector region (Potential).				regulation of small GTPase mediated signal transduction|Rho protein signal transduction	cytosol|plasma membrane	GTP binding|GTPase activity				0						ACACCCCCACGGTGTTTGAGC	0.627												
ADRBK1	156	broad.mit.edu	37	11	67046979	67046979	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr11:67046979G>A	uc009yrn.1	+	4	621	c.355G>A	c.(355-357)GCC>ACC	p.A119T	ADRBK1_uc009yrm.1_Missense_Mutation_p.A119T	NM_001619	NP_001610	P25098	ARBK1_HUMAN	beta-adrenergic receptor kinase 1	119	RGS.|N-terminal.				activation of phospholipase C activity|cardiac muscle contraction|desensitization of G-protein coupled receptor protein signaling pathway|muscarinic acetylcholine receptor signaling pathway|negative regulation of striated muscle contraction|negative regulation of the force of heart contraction by chemical signal|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|positive regulation of catecholamine secretion|tachykinin receptor signaling pathway	cytosol|soluble fraction	alpha-2A adrenergic receptor binding|ATP binding|beta-adrenergic receptor kinase activity|Edg-2 lysophosphatidic acid receptor binding|G-protein coupled receptor kinase activity|signal transducer activity			large_intestine(1)	1			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)		Adenosine triphosphate(DB00171)	GGAGCTGCTGGCCTGCTCGCA	0.592												
TCIRG1	10312	broad.mit.edu	37	11	67816415	67816415	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr11:67816415G>A	uc001one.2	+	14	1732	c.1624G>A	c.(1624-1626)GGC>AGC	p.G542S	TCIRG1_uc001ong.2_Missense_Mutation_p.G326S|TCIRG1_uc001onh.2_Missense_Mutation_p.G244S|TCIRG1_uc001oni.2_Missense_Mutation_p.G46S|TCIRG1_uc009ysd.2_5'Flank	NM_006019	NP_006010	Q13488	VPP3_HUMAN	T-cell, immune regulator 1 isoform a	542	Helical; (Potential).				ATP hydrolysis coupled proton transport|cellular defense response|cellular iron ion homeostasis|insulin receptor signaling pathway|positive regulation of cell proliferation|transferrin transport	apical plasma membrane|endosome membrane|integral to plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	hydrogen ion transmembrane transporter activity			ovary(1)	1						CGTCATCCTGGGCGTCGTGCA	0.627												
CPT1A	1374	broad.mit.edu	37	11	68548161	68548161	+	Missense_Mutation	SNP	G	G	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr11:68548161G>T	uc001oog.3	-	12	1575	c.1405C>A	c.(1405-1407)CTC>ATC	p.L469I	CPT1A_uc001oof.3_Missense_Mutation_p.L469I|CPT1A_uc009ysj.2_Intron	NM_001876	NP_001867	P50416	CPT1A_HUMAN	carnitine palmitoyltransferase 1A liver isoform	469	Cytoplasmic (Potential).				carnitine shuttle|fatty acid beta-oxidation	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			skin(2)	2	Esophageal squamous(3;3.28e-14)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.142)		L-Carnitine(DB00583)|Perhexiline(DB01074)	TCAGCGTTGAGGCCCATCTTC	0.463												
ANO1	55107	broad.mit.edu	37	11	69957855	69957855	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr11:69957855A>G	uc001opj.2	+	7	1147	c.842A>G	c.(841-843)TAC>TGC	p.Y281C	ANO1_uc001opk.1_Missense_Mutation_p.Y253C|ANO1_uc001opl.1_RNA|ANO1_uc010rqk.1_Missense_Mutation_p.Y16C	NM_018043	NP_060513	Q5XXA6	ANO1_HUMAN	anoctamin 1, calcium activated chloride channel	281	Cytoplasmic (Potential).				multicellular organismal development	chloride channel complex|cytoplasm|plasma membrane	intracellular calcium activated chloride channel activity			ovary(1)|pancreas(1)	2						GCGGCTGCATACCCACTGCAC	0.562												
ANO1	55107	broad.mit.edu	37	11	70028653	70028653	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr11:70028653T>C	uc001opj.2	+	24	2754	c.2449T>C	c.(2449-2451)TAC>CAC	p.Y817H	ANO1_uc001opl.1_RNA|ANO1_uc010rqk.1_Missense_Mutation_p.Y526H|ANO1_uc010rql.1_5'UTR	NM_018043	NP_060513	Q5XXA6	ANO1_HUMAN	anoctamin 1, calcium activated chloride channel	817	Extracellular (Potential).				multicellular organismal development	chloride channel complex|cytoplasm|plasma membrane	intracellular calcium activated chloride channel activity			ovary(1)|pancreas(1)	2						GCGCCTGGTGTACCTCTACAT	0.612												
KRTAP5-8	57830	broad.mit.edu	37	11	71249264	71249264	+	Missense_Mutation	SNP	G	G	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr11:71249264G>T	uc001oqr.1	+	1	194	c.163G>T	c.(163-165)GGC>TGC	p.G55C		NM_021046	NP_066384	O75690	KRA58_HUMAN	keratin associated protein 5-8	55	9 X 4 AA repeats of C-C-X-P.					extracellular region|keratin filament	structural constituent of epidermis				0						CTCCTGTGGGGGCTCCAAGGG	0.667												
FOLR2	2350	broad.mit.edu	37	11	71932561	71932561	+	Missense_Mutation	SNP	T	T	G			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr11:71932561T>G	uc009ytd.2	+	5	692	c.523T>G	c.(523-525)TAC>GAC	p.Y175D	FOLR2_uc009yte.2_Missense_Mutation_p.Y175D|FOLR2_uc001ose.3_Missense_Mutation_p.Y175D|FOLR2_uc009ytf.2_Missense_Mutation_p.Y175D	NM_001113534	NP_001107006	P14207	FOLR2_HUMAN	folate receptor 2 precursor	175					folic acid transport	anchored to membrane|extracellular region|membrane fraction|plasma membrane	folic acid binding|receptor activity			breast(2)|ovary(1)	3					Folic Acid(DB00158)	CTTTGAGTCCTACTTCCCCAC	0.592												
ARAP1	116985	broad.mit.edu	37	11	72424265	72424265	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr11:72424265G>A	uc001osu.2	-	5	892	c.703C>T	c.(703-705)CCA>TCA	p.P235S	ARAP1_uc001osv.2_Missense_Mutation_p.P235S|ARAP1_uc001osr.2_5'UTR|ARAP1_uc001oss.2_5'UTR|ARAP1_uc009yth.2_5'UTR|ARAP1_uc010rre.1_5'UTR	NM_001040118	NP_001035207	Q96P48	ARAP1_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH	235					actin filament reorganization involved in cell cycle|negative regulation of stress fiber assembly|positive regulation of Cdc42 GTPase activity|positive regulation of filopodium assembly|regulation of ARF GTPase activity|regulation of cell shape|regulation of cellular component movement|small GTPase mediated signal transduction	cytosol|Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|Rho GTPase activator activity|zinc ion binding			skin(1)	1						CCCTCCTCTGGGACCTCATCG	0.662												
C2CD3	26005	broad.mit.edu	37	11	73820094	73820094	+	Silent	SNP	T	T	C			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr11:73820094T>C	uc001ouu.2	-	12	2174	c.1947A>G	c.(1945-1947)AAA>AAG	p.K649K		NM_015531	NP_056346	Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	649						centrosome				ovary(4)|pancreas(2)|skin(1)	7	Breast(11;4.16e-06)					TCTGTGGAGTTTTCTTTACAT	0.398												
C2CD3	26005	broad.mit.edu	37	11	73820180	73820180	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr11:73820180G>A	uc001ouu.2	-	12	2088	c.1861C>T	c.(1861-1863)CGA>TGA	p.R621*		NM_015531	NP_056346	Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	621						centrosome				ovary(4)|pancreas(2)|skin(1)	7	Breast(11;4.16e-06)					AACACAAATCGCTGCTGGAAC	0.443												
INTS4	92105	broad.mit.edu	37	11	77667073	77667073	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr11:77667073C>T	uc001oys.2	-	8	861	c.833G>A	c.(832-834)CGC>CAC	p.R278H	INTS4_uc001oyt.2_RNA|INTS4_uc001oyu.1_Missense_Mutation_p.R278H	NM_033547	NP_291025	Q96HW7	INT4_HUMAN	integrator complex subunit 4	278	HEAT 5.				snRNA processing	integrator complex	protein binding			ovary(2)	2	all_cancers(14;4.53e-19)|all_epithelial(13;1.73e-21)|Breast(9;2.71e-16)|Ovarian(111;0.152)		Epithelial(5;1.13e-46)|all cancers(3;8.92e-44)|BRCA - Breast invasive adenocarcinoma(5;8.4e-26)|OV - Ovarian serous cystadenocarcinoma(8;1.05e-23)			ATCAACTAAGCGTATTTCTTC	0.373												
ODZ4	26011	broad.mit.edu	37	11	78369281	78369281	+	Missense_Mutation	SNP	C	C	T	rs148029717	by1000genomes	TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr11:78369281C>T	uc001ozl.3	-	34	8595	c.8132G>A	c.(8131-8133)CGG>CAG	p.R2711Q	ODZ4_uc001ozk.3_Missense_Mutation_p.R936Q|ODZ4_uc009yvb.1_Intron	NM_001098816	NP_001092286	Q6N022	TEN4_HUMAN	odz, odd Oz/ten-m homolog 4	2711	Extracellular (Potential).				signal transduction	integral to membrane				ovary(2)|pancreas(2)	4						CTCCCCTTCCCGCAGTCTCTG	0.667												
GRM5	2915	broad.mit.edu	37	11	88241901	88241901	+	Silent	SNP	C	C	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr11:88241901C>T	uc001pcq.2	-	9	3698	c.3498G>A	c.(3496-3498)CCG>CCA	p.P1166P	GRM5_uc009yvm.2_Silent_p.P1134P	NM_001143831	NP_001137303	P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5 isoform a	1166	Cytoplasmic (Potential).				activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			central_nervous_system(4)|ovary(2)|lung(2)|breast(1)	9		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)	TGAAGGGGGACGGCGGGGTGA	0.706												
GRM5	2915	broad.mit.edu	37	11	88300530	88300530	+	Missense_Mutation	SNP	A	A	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr11:88300530A>T	uc001pcq.2	-	7	2521	c.2321T>A	c.(2320-2322)ATC>AAC	p.I774N	GRM5_uc009yvm.2_Missense_Mutation_p.I774N	NM_001143831	NP_001137303	P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5 isoform a	774	Helical; Name=6; (Potential).				activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			central_nervous_system(4)|ovary(2)|lung(2)|breast(1)	9		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)	TGTGAAGGCGATATACTTGGC	0.438												
FAT3	120114	broad.mit.edu	37	11	92534857	92534857	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr11:92534857T>C	uc001pdj.3	+	9	8695	c.8678T>C	c.(8677-8679)GTG>GCG	p.V2893A		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	FAT tumor suppressor homolog 3	2893	Cadherin 26.|Extracellular (Potential).				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)				ACCTTCTCTGTGGTGGCCTCT	0.498										TCGA Ovarian(4;0.039)		
MED17	9440	broad.mit.edu	37	11	93529642	93529642	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr11:93529642A>G	uc001pem.3	+	7	1354	c.1079A>G	c.(1078-1080)GAG>GGG	p.E360G		NM_004268	NP_004259	Q9NVC6	MED17_HUMAN	mediator complex subunit 17	360					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex|transcription factor complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			ovary(1)	1		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				TTTGCTACTGAGAAGCAATGT	0.358												
MRE11A	4361	broad.mit.edu	37	11	94224123	94224123	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr11:94224123T>C	uc001peu.2	-	3	218	c.29A>G	c.(28-30)GAA>GGA	p.E10G	MRE11A_uc001pev.2_Missense_Mutation_p.E10G|MRE11A_uc009ywj.2_Missense_Mutation_p.E13G	NM_005591	NP_005582	P49959	MRE11_HUMAN	meiotic recombination 11 homolog A isoform 1	10					DNA duplex unwinding|double-strand break repair via homologous recombination|double-strand break repair via nonhomologous end joining|negative regulation of DNA endoreduplication|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|sister chromatid cohesion|telomere maintenance via telomerase	Mre11 complex|nucleoplasm	3'-5' exonuclease activity|double-stranded DNA binding|manganese ion binding|protein C-terminus binding|single-stranded DNA specific endodeoxyribonuclease activity			breast(4)|lung(1)	5		Acute lymphoblastic leukemia(157;2.37e-05)|all_hematologic(158;0.00824)				AAATGTGTTTTCATCATCACT	0.244								Homologous_recombination	Ataxia-Telangiectasia-Like_Disorder			
SESN3	143686	broad.mit.edu	37	11	94910901	94910901	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr11:94910901T>C	uc001pfk.1	-	8	1451	c.1229A>G	c.(1228-1230)CAC>CGC	p.H410R	SESN3_uc010rug.1_Missense_Mutation_p.H271R	NM_144665	NP_653266	P58005	SESN3_HUMAN	sestrin 3	410					cell cycle arrest	nucleus					0		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)		BRCA - Breast invasive adenocarcinoma(274;0.234)		AAACATACAGTGAACATAGTT	0.373												
MMP8	4317	broad.mit.edu	37	11	102593239	102593239	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr11:102593239G>A	uc001phe.2	-	2	367	c.268C>T	c.(268-270)CGC>TGC	p.R90C	MMP8_uc010rut.1_Missense_Mutation_p.R25C|MMP8_uc010ruu.1_Missense_Mutation_p.R67C	NM_002424	NP_002415	P22894	MMP8_HUMAN	matrix metalloproteinase 8 preproprotein	90	Cysteine switch (By similarity).				collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	metalloendopeptidase activity|serine-type endopeptidase activity|zinc ion binding			ovary(3)|breast(1)	4	all_cancers(8;0.00092)|all_epithelial(12;0.00389)|Lung NSC(15;0.227)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0555)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.189)	BRCA - Breast invasive adenocarcinoma(274;0.0141)		ACTCCACAGCGAGGCTTTTTC	0.453												
KIAA1826	84437	broad.mit.edu	37	11	105881471	105881471	+	Silent	SNP	T	T	C			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr11:105881471T>C	uc001piy.2	-	2	347	c.174A>G	c.(172-174)GTA>GTG	p.V58V	KIAA1826_uc001piz.2_Silent_p.V58V	NM_032424	NP_115800	Q8NCY6	K1826_HUMAN	hypothetical protein LOC84437	58						nucleus				breast(1)	1		Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321)		BRCA - Breast invasive adenocarcinoma(274;5.56e-05)|Epithelial(105;0.00432)|all cancers(92;0.0309)		CTCCTTCTCCTACAGCATTCA	0.443												
DDX10	1662	broad.mit.edu	37	11	108593810	108593810	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr11:108593810C>T	uc001pkm.2	+	13	1651	c.1586C>T	c.(1585-1587)GCC>GTC	p.A529V	DDX10_uc001pkl.1_Missense_Mutation_p.A529V	NM_004398	NP_004389	Q13206	DDX10_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 10	529							ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity			breast(2)|lung(1)|prostate(1)	4		all_cancers(61;1.29e-11)|all_epithelial(67;2.96e-07)|Melanoma(852;1.54e-05)|Acute lymphoblastic leukemia(157;4.24e-05)|all_hematologic(158;0.000141)|Breast(348;0.026)|all_neural(223;0.0729)		BRCA - Breast invasive adenocarcinoma(274;2.48e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.000609)|OV - Ovarian serous cystadenocarcinoma(223;0.133)		AGGAGCCAAGCCGATAAAGTA	0.433			T	NUP98	AML*							
C11orf52	91894	broad.mit.edu	37	11	111796699	111796699	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr11:111796699G>T	uc001pmh.2	+	5	631	c.148G>T	c.(148-150)GGA>TGA	p.G50*	C11orf52_uc001pmi.2_Nonsense_Mutation_p.G50*	NM_080659	NP_542390	Q96A22	CK052_HUMAN	hypothetical protein LOC91894	50										ovary(1)	1		all_cancers(61;8.8e-15)|all_epithelial(67;6.27e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;3.63e-07)|BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|all cancers(92;6.7e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0512)		TGAAACAACAGGACATACGTA	0.502												
FAM55D	54827	broad.mit.edu	37	11	114453454	114453454	+	Missense_Mutation	SNP	C	C	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr11:114453454C>A	uc001ppc.2	-	3	567	c.386G>T	c.(385-387)CGC>CTC	p.R129L	FAM55D_uc001ppd.2_Intron	NM_001077639	NP_001071107	Q6UWF7	FA55D_HUMAN	hypothetical protein LOC54827 isoform 1	129						extracellular region				ovary(2)|skin(2)	4		all_cancers(61;8.53e-16)|all_epithelial(67;1.71e-08)|all_hematologic(158;3.05e-05)|Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0194)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0906)		BRCA - Breast invasive adenocarcinoma(274;2.82e-06)|Epithelial(105;0.000129)|all cancers(92;0.000938)		TTGCTTCCTGCGTCCCAAGTG	0.587												
APOA5	116519	broad.mit.edu	37	11	116660973	116660973	+	Silent	SNP	G	G	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr11:116660973G>A	uc001ppr.2	-	3	980	c.972C>T	c.(970-972)TTC>TTT	p.F324F	ZNF259_uc001ppp.2_5'Flank|ZNF259_uc009yzd.2_5'Flank|ZNF259_uc001ppq.2_5'Flank|APOA5_uc009yze.2_Silent_p.F324F|APOA5_uc009yzf.2_Silent_p.F324F|APOA5_uc009yzg.2_Silent_p.F350F	NM_052968	NP_443200	Q6Q788	APOA5_HUMAN	apolipoprotein AV precursor	324					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)		ACTCTGGGGCGAAGGCACTGT	0.592												
SIK3	23387	broad.mit.edu	37	11	116767059	116767059	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr11:116767059C>T	uc001ppy.2	-	6	637	c.601G>A	c.(601-603)GGT>AGT	p.G201S	SIK3_uc001ppz.2_Missense_Mutation_p.G100S|SIK3_uc001pqa.2_Missense_Mutation_p.G201S	NM_025164	NP_079440	Q9Y2K2	SIK3_HUMAN	serine/threonine-protein kinase QSK	201	Protein kinase.					cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			ovary(4)|breast(3)|stomach(2)|lung(1)|skin(1)|kidney(1)	12						GGCAGGGCACCGCACACAAGC	0.498												
DSCAML1	57453	broad.mit.edu	37	11	117303920	117303920	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr11:117303920G>A	uc001prh.1	-	29	5142	c.5140C>T	c.(5140-5142)CGG>TGG	p.R1714W		NM_020693	NP_065744	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	1654	Cytoplasmic (Potential).				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			ovary(3)|large_intestine(2)|skin(2)|upper_aerodigestive_tract(1)	8	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		ATGTGTAGCCGTGGGCCCTGG	0.567												
UBE4A	9354	broad.mit.edu	37	11	118255401	118255401	+	Missense_Mutation	SNP	C	C	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr11:118255401C>A	uc001psw.2	+	14	2378	c.2249C>A	c.(2248-2250)CCT>CAT	p.P750H	UBE4A_uc001psv.2_Missense_Mutation_p.P757H	NM_004788	NP_004779	Q14139	UBE4A_HUMAN	ubiquitination factor E4A	750					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding			ovary(2)|upper_aerodigestive_tract(1)|breast(1)|kidney(1)	5	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)		CCCATGTATCCTATCCTAAGA	0.443												
MLL	4297	broad.mit.edu	37	11	118363823	118363823	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr11:118363823C>T	uc001pta.2	+	16	5070	c.5047C>T	c.(5047-5049)CGC>TGC	p.R1683C	MLL_uc001ptb.2_Missense_Mutation_p.R1686C	NM_005933	NP_005924	Q03164	MLL1_HUMAN	myeloid/lymphoid or mixed-lineage leukemia	1683					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			lung(7)|ovary(5)|kidney(5)|central_nervous_system(3)|pancreas(2)|urinary_tract(1)|breast(1)|skin(1)	25	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)		TATACCTTCCCGCAGCTCCCC	0.478			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							
ARCN1	372	broad.mit.edu	37	11	118463520	118463520	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr11:118463520G>A	uc001ptq.2	+	7	1242	c.1081G>A	c.(1081-1083)GTG>ATG	p.V361M	ARCN1_uc009zah.2_Intron|ARCN1_uc010ryg.1_Missense_Mutation_p.V273M|ARCN1_uc009zag.2_Missense_Mutation_p.V402M	NM_001655	NP_001646	P48444	COPD_HUMAN	archain isoform 1	361	MHD.				COPI coating of Golgi vesicle|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	clathrin adaptor complex|COPI vesicle coat|cytosol					0	all_hematologic(175;0.0349)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.0564)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)		TGACGTAGGGGTGCTAAAGTG	0.438												
BCL9L	283149	broad.mit.edu	37	11	118770759	118770759	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr11:118770759C>T	uc001pug.2	-	7	4238	c.3273G>A	c.(3271-3273)ATG>ATA	p.M1091I	BCL9L_uc009zal.2_Missense_Mutation_p.M1086I	NM_182557	NP_872363	Q86UU0	BCL9L_HUMAN	B-cell CLL/lymphoma 9-like	1091	Pro-rich.				negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		transcription coactivator activity			ovary(1)|pancreas(1)	2	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)		CGTACTTGGACATCTGGGTCA	0.627												
ABCG4	64137	broad.mit.edu	37	11	119025010	119025010	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr11:119025010C>T	uc001pvs.2	+	4	733	c.397C>T	c.(397-399)CCA>TCA	p.P133S	ABCG4_uc009zar.2_Missense_Mutation_p.P133S	NM_022169	NP_071452	Q9H172	ABCG4_HUMAN	ATP-binding cassette, subfamily G, member 4	133	Cytoplasmic (Potential).|ABC transporter.				cholesterol efflux	integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity|protein homodimerization activity			ovary(2)	2	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		TAATGGAAGGCCACGGGAGCT	0.557												
PUS3	83480	broad.mit.edu	37	11	125765567	125765567	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr11:125765567G>A	uc001qcy.2	-	3	594	c.496C>T	c.(496-498)CGG>TGG	p.R166W	HYLS1_uc009zbv.2_Intron|HYLS1_uc001qcx.3_Intron	NM_031307	NP_112597	Q9BZE2	PUS3_HUMAN	pseudouridylate synthase 3	166						nucleus	RNA binding			ovary(1)	1	all_hematologic(175;0.177)	Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.131)|all_lung(97;0.139)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.043)		GGGAGTACCCGATTGAGAATG	0.502												
RPUSD4	84881	broad.mit.edu	37	11	126081486	126081486	+	Silent	SNP	G	G	A	rs141244684	byFrequency	TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr11:126081486G>A	uc001qde.2	-	1	102	c.48C>T	c.(46-48)AAC>AAT	p.N16N	FAM118B_uc001qdf.2_5'Flank|FAM118B_uc009zca.2_5'Flank|FAM118B_uc001qdg.2_5'Flank|RPUSD4_uc009zbz.2_Silent_p.N16N|RPUSD4_uc009zby.2_RNA	NM_032795	NP_116184	Q96CM3	RUSD4_HUMAN	RNA pseudouridylate synthase domain containing 4	16					pseudouridine synthesis		protein binding|pseudouridine synthase activity|RNA binding			breast(1)	1	all_hematologic(175;0.145)	Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0919)|all_lung(97;0.0994)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0761)		AACCTTGGCCGTTTCCCCGGA	0.622												
SRPR	6734	broad.mit.edu	37	11	126136516	126136516	+	Missense_Mutation	SNP	G	G	A	rs148507841		TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr11:126136516G>A	uc001qdh.2	-	6	746	c.695C>T	c.(694-696)ACG>ATG	p.T232M	SRPR_uc010sbm.1_Missense_Mutation_p.T204M|FOXRED1_uc001qdi.2_5'Flank|FOXRED1_uc010sbn.1_5'Flank|FOXRED1_uc010sbo.1_5'Flank|FOXRED1_uc010sbp.1_5'Flank|FOXRED1_uc010sbq.1_5'Flank|FOXRED1_uc001qdj.2_5'Flank|FOXRED1_uc010sbr.1_5'Flank	NM_003139	NP_003130	P08240	SRPR_HUMAN	signal recognition particle receptor	232					SRP-dependent cotranslational protein targeting to membrane	integral to membrane|signal recognition particle receptor complex	GTP binding|GTPase activity|receptor activity|signal recognition particle binding				0	all_hematologic(175;0.145)			BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0736)		ATCTGACTTCGTGGACTTGCT	0.493												
FLI1	2313	broad.mit.edu	37	11	128564097	128564097	+	Translation_Start_Site	SNP	G	G	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr11:128564097G>T	uc010sbu.1	+	1	285	c.-56G>T	c.(-58--54)CAGGC>CATGC		FLI1_uc010sbt.1_Intron|FLI1_uc010sbv.1_Translation_Start_Site|FLI1_uc009zci.2_Translation_Start_Site|uc001qel.2_Intron	NM_002017	NP_002008	Q01543	FLI1_HUMAN	Friend leukemia virus integration 1						hemostasis|organ morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		EWSR1/FLI1(2266)	bone(2210)|soft_tissue(48)|autonomic_ganglia(4)|central_nervous_system(4)|lung(3)|ovary(2)|pancreas(2)	2273	all_hematologic(175;0.0641)	Lung NSC(97;0.00588)|all_lung(97;0.00764)|Breast(109;0.0115)|Medulloblastoma(222;0.0523)|all_neural(223;0.0862)|all_hematologic(192;0.182)		OV - Ovarian serous cystadenocarcinoma(99;0.01)|LUSC - Lung squamous cell carcinoma(976;0.0324)|Lung(977;0.0327)		TGCGAGGTCAGGCTGTAACCG	0.682			T	EWSR1	Ewing sarcoma							
ARHGAP32	9743	broad.mit.edu	37	11	128844793	128844793	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr11:128844793T>C	uc009zcp.2	-	20	2257	c.2257A>G	c.(2257-2259)AAT>GAT	p.N753D	ARHGAP32_uc009zcq.1_Missense_Mutation_p.N713D|ARHGAP32_uc009zco.2_Translation_Start_Site|ARHGAP32_uc001qez.2_Missense_Mutation_p.N404D	NM_001142685	NP_001136157	A7KAX9	RHG32_HUMAN	Rho GTPase-activating protein isoform 1	753					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						TGAGGCAGATTATCATAGGAG	0.498												
PRDM10	56980	broad.mit.edu	37	11	129775589	129775589	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr11:129775589T>C	uc001qfm.2	-	21	3455	c.3223A>G	c.(3223-3225)ACA>GCA	p.T1075A	PRDM10_uc001qfj.2_Missense_Mutation_p.T976A|PRDM10_uc001qfk.2_Missense_Mutation_p.T938A|PRDM10_uc001qfl.2_Missense_Mutation_p.T989A|PRDM10_uc010sbx.1_Missense_Mutation_p.T985A|PRDM10_uc001qfn.2_Missense_Mutation_p.T1071A	NM_020228	NP_064613	Q9NQV6	PRD10_HUMAN	PR domain containing 10 isoform 1	1062					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			pancreas(1)	1	all_hematologic(175;0.0537)	Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185)		CCACTGTCTGTAATCACAAAC	0.463												
SLC6A13	6540	broad.mit.edu	37	12	333237	333237	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr12:333237C>T	uc001qic.1	-	11	1285	c.1232G>A	c.(1231-1233)CGC>CAC	p.R411H	SLC6A13_uc009zdj.1_Missense_Mutation_p.R401H|SLC6A13_uc010sdl.1_Missense_Mutation_p.R319H	NM_016615	NP_057699	Q9NSD5	S6A13_HUMAN	solute carrier family 6 (neurotransmitter	411					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity				0	all_cancers(10;0.0416)|all_epithelial(11;0.0537)|all_lung(10;0.0989)|Lung NSC(10;0.139)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00153)|BRCA - Breast invasive adenocarcinoma(9;0.239)			GTTCTTCTTGCGGAACACGTG	0.572												
KDM5A	5927	broad.mit.edu	37	12	442691	442691	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr12:442691T>C	uc001qif.1	-	12	1978	c.1615A>G	c.(1615-1617)ATC>GTC	p.I539V	KDM5A_uc001qie.1_Missense_Mutation_p.I539V|KDM5A_uc010sdn.1_Missense_Mutation_p.I498V|KDM5A_uc010sdo.1_Missense_Mutation_p.I158V	NM_001042603	NP_001036068	P29375	KDM5A_HUMAN	retinoblastoma binding protein 2 isoform 1	539	JmjC.				chromatin modification|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|sequence-specific DNA binding transcription factor activity|zinc ion binding			skin(2)|ovary(1)	3						GGGTTCATGATGGTAACTAAC	0.418			T 	NUP98	AML							
RAD52	5893	broad.mit.edu	37	12	1036391	1036391	+	Silent	SNP	A	A	G			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr12:1036391A>G	uc001qis.1	-	6	501	c.387T>C	c.(385-387)AGT>AGC	p.S129S	RAD52_uc001qit.1_RNA|RAD52_uc010sdt.1_Silent_p.S52S|RAD52_uc001qiu.1_Silent_p.S129S|RAD52_uc001qiv.1_RNA|RAD52_uc001qiw.1_Intron|RAD52_uc010sdu.1_Silent_p.S129S|RAD52_uc001qix.1_Silent_p.S129S	NM_134424	NP_602296	P43351	RAD52_HUMAN	RAD52 homolog	129					DNA recombinase assembly|mitotic recombination|reciprocal meiotic recombination	nucleoplasm	DNA binding|protein binding			central_nervous_system(1)	1	all_cancers(10;0.0119)|all_epithelial(11;0.0171)|all_lung(10;0.0521)|Ovarian(42;0.0816)|Lung NSC(10;0.0987)		OV - Ovarian serous cystadenocarcinoma(31;0.00123)|BRCA - Breast invasive adenocarcinoma(9;0.0323)			TGAGGCCCTCACTAACACCAT	0.557								Homologous_recombination				
CACNA1C	775	broad.mit.edu	37	12	2692102	2692102	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr12:2692102G>A	uc009zdu.1	+	15	2531	c.2218G>A	c.(2218-2220)GGA>AGA	p.G740R	CACNA1C_uc009zdv.1_Missense_Mutation_p.G737R|CACNA1C_uc001qkb.2_Missense_Mutation_p.G740R|CACNA1C_uc001qkc.2_Missense_Mutation_p.G740R|CACNA1C_uc001qke.2_Missense_Mutation_p.G740R|CACNA1C_uc001qkf.2_Missense_Mutation_p.G740R|CACNA1C_uc001qjz.2_Missense_Mutation_p.G740R|CACNA1C_uc001qkd.2_Missense_Mutation_p.G740R|CACNA1C_uc001qkg.2_Missense_Mutation_p.G740R|CACNA1C_uc009zdw.1_Missense_Mutation_p.G740R|CACNA1C_uc001qkh.2_Missense_Mutation_p.G740R|CACNA1C_uc001qkl.2_Missense_Mutation_p.G740R|CACNA1C_uc001qkn.2_Missense_Mutation_p.G740R|CACNA1C_uc001qko.2_Missense_Mutation_p.G740R|CACNA1C_uc001qkp.2_Missense_Mutation_p.G740R|CACNA1C_uc001qkr.2_Missense_Mutation_p.G740R|CACNA1C_uc001qku.2_Missense_Mutation_p.G740R|CACNA1C_uc001qkq.2_Missense_Mutation_p.G740R|CACNA1C_uc001qks.2_Missense_Mutation_p.G740R|CACNA1C_uc001qkt.2_Missense_Mutation_p.G740R|CACNA1C_uc001qka.1_Missense_Mutation_p.G275R|CACNA1C_uc001qki.1_Missense_Mutation_p.G476R|CACNA1C_uc001qkj.1_Missense_Mutation_p.G476R|CACNA1C_uc001qkk.1_Missense_Mutation_p.G476R|CACNA1C_uc001qkm.1_Missense_Mutation_p.G476R|CACNA1C_uc001qkw.2_Missense_Mutation_p.G29R	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type,	740	Helical; Name=S6 of repeat II; (Potential).|II.				axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			ovary(10)|central_nervous_system(1)	11			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	CTTCATCTGTGGAAACTGTAT	0.587												
CACNA1C	775	broad.mit.edu	37	12	2764356	2764356	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr12:2764356G>A	uc009zdu.1	+	36	4641	c.4328G>A	c.(4327-4329)CGG>CAG	p.R1443Q	CACNA1C_uc009zdv.1_Missense_Mutation_p.R1392Q|CACNA1C_uc001qkb.2_Missense_Mutation_p.R1395Q|CACNA1C_uc001qkc.2_Missense_Mutation_p.R1395Q|CACNA1C_uc001qke.2_Missense_Mutation_p.R1384Q|CACNA1C_uc001qkf.2_Missense_Mutation_p.R1384Q|CACNA1C_uc001qjz.2_Missense_Mutation_p.R1395Q|CACNA1C_uc001qkd.2_Missense_Mutation_p.R1395Q|CACNA1C_uc001qkg.2_Missense_Mutation_p.R1382Q|CACNA1C_uc009zdw.1_Missense_Mutation_p.R1417Q|CACNA1C_uc001qkh.2_Missense_Mutation_p.R1384Q|CACNA1C_uc001qkl.2_Missense_Mutation_p.R1443Q|CACNA1C_uc001qkn.2_Missense_Mutation_p.R1395Q|CACNA1C_uc001qko.2_Missense_Mutation_p.R1415Q|CACNA1C_uc001qkp.2_Missense_Mutation_p.R1395Q|CACNA1C_uc001qkr.2_Missense_Mutation_p.R1412Q|CACNA1C_uc001qku.2_Missense_Mutation_p.R1395Q|CACNA1C_uc001qkq.2_Missense_Mutation_p.R1423Q|CACNA1C_uc001qks.2_Missense_Mutation_p.R1395Q|CACNA1C_uc001qkt.2_Missense_Mutation_p.R1395Q|CACNA1C_uc001qki.1_Missense_Mutation_p.R1131Q|CACNA1C_uc001qkj.1_Missense_Mutation_p.R1131Q|CACNA1C_uc001qkk.1_Missense_Mutation_p.R1131Q|CACNA1C_uc001qkm.1_Missense_Mutation_p.R1120Q|CACNA1C_uc010sea.1_Missense_Mutation_p.R86Q	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type,	1443	Extracellular (Potential).|IV.				axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			ovary(10)|central_nervous_system(1)	11			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	GAGATCAACCGGAACAACAAC	0.502												
FKBP4	2288	broad.mit.edu	37	12	2907948	2907948	+	Missense_Mutation	SNP	G	G	A	rs1062478		TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr12:2907948G>A	uc001qkz.2	+	4	668	c.470G>A	c.(469-471)CGC>CAC	p.R157H		NM_002014	NP_002005	Q02790	FKBP4_HUMAN	FK506 binding protein 52	157					negative regulation of microtubule polymerization or depolymerization|negative regulation of neuron projection development|protein folding	axonal growth cone|cytosol|membrane|microtubule|nucleus	FK506 binding|heat shock protein binding|peptidyl-prolyl cis-trans isomerase activity|protein binding, bridging				0			OV - Ovarian serous cystadenocarcinoma(31;0.00105)		Dimethyl sulfoxide(DB01093)	ATACAGACTCGCGGTGAAGGC	0.363												
ITFG2	55846	broad.mit.edu	37	12	2929961	2929961	+	Silent	SNP	G	G	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr12:2929961G>A	uc001qlb.1	+	6	682	c.618G>A	c.(616-618)GCG>GCA	p.A206A	ITFG2_uc010seb.1_Silent_p.A29A|ITFG2_uc010sec.1_RNA	NM_018463	NP_060933	Q969R8	ITFG2_HUMAN	integrin alpha FG-GAP repeat containing 2	206											0			OV - Ovarian serous cystadenocarcinoma(31;0.000818)			CAGGTTGTGCGTATGCAATTC	0.562												
KCNA5	3741	broad.mit.edu	37	12	5153819	5153819	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr12:5153819G>A	uc001qni.2	+	1	735	c.506G>A	c.(505-507)CGG>CAG	p.R169Q		NM_002234	NP_002225	P22460	KCNA5_HUMAN	potassium voltage-gated channel, shaker-related	169						Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity			ovary(2)|breast(2)	4						GACCGCAACCGGCCCAGCTTC	0.657												
CHD4	1108	broad.mit.edu	37	12	6692419	6692419	+	Missense_Mutation	SNP	T	T	G			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr12:6692419T>G	uc001qpo.2	-	26	4169	c.4005A>C	c.(4003-4005)AAA>AAC	p.K1335N	CHD4_uc001qpn.2_Missense_Mutation_p.K1328N|CHD4_uc001qpp.2_Missense_Mutation_p.K1332N|uc001qpq.1_3'UTR|SCARNA11_uc001qpr.1_5'Flank	NM_001273	NP_001264	Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	1335					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding			central_nervous_system(2)	2						TTCTTTTTCCTTTGCCCAGAT	0.532												
CHD4	1108	broad.mit.edu	37	12	6707515	6707515	+	Missense_Mutation	SNP	G	G	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr12:6707515G>T	uc001qpo.2	-	11	1723	c.1559C>A	c.(1558-1560)CCT>CAT	p.P520H	CHD4_uc001qpn.2_Missense_Mutation_p.P513H|CHD4_uc001qpp.2_Missense_Mutation_p.P517H	NM_001273	NP_001264	Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	520	Chromo 1.				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding			central_nervous_system(2)	2						TGGAGGCCGAGGCACTGGTGT	0.552												
ACRBP	84519	broad.mit.edu	37	12	6753468	6753468	+	Missense_Mutation	SNP	G	G	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr12:6753468G>T	uc001qpu.1	-	5	827	c.779C>A	c.(778-780)TCT>TAT	p.S260Y	ACRBP_uc010sfg.1_Missense_Mutation_p.S227Y	NM_032489	NP_115878	Q8NEB7	ACRBP_HUMAN	proacrosin binding protein sp32 precursor	260						acrosomal vesicle|extracellular region				central_nervous_system(1)	1						AGAAGATAGAGATTCAGAGTG	0.363												
ATN1	1822	broad.mit.edu	37	12	7044832	7044832	+	Silent	SNP	T	T	C			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr12:7044832T>C	uc001qrw.1	+	5	639	c.402T>C	c.(400-402)AGT>AGC	p.S134S	ATN1_uc001qrx.1_Silent_p.S134S|ATN1_uc001qry.1_Silent_p.S133S	NM_001007026	NP_001007027	P54259	ATN1_HUMAN	atrophin-1	134					cell death|central nervous system development	cytoplasm|nucleus	protein domain specific binding			ovary(2)|breast(2)|pancreas(1)|skin(1)	6						CGTCCCCCAGTATCTACAGCC	0.592												
CLEC4A	50856	broad.mit.edu	37	12	8290795	8290795	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr12:8290795G>A	uc001qtz.1	+	6	873	c.626G>A	c.(625-627)CGT>CAT	p.R209H	CLEC4A_uc009zga.1_Missense_Mutation_p.R170H|CLEC4A_uc001qub.1_Missense_Mutation_p.R176H|CLEC4A_uc001quc.1_Missense_Mutation_p.R137H|CLEC4A_uc009zgb.1_3'UTR	NM_016184	NP_057268	Q9UMR7	CLC4A_HUMAN	C-type lectin domain family 4, member A isoform	209	Extracellular (Potential).|C-type lectin.				cell adhesion|cell surface receptor linked signaling pathway|innate immune response	integral to plasma membrane	sugar binding|transmembrane receptor activity				0				Kidney(36;0.0915)		CTAAATTTTCGTAAATCACCC	0.433												
RIMKLB	57494	broad.mit.edu	37	12	8926340	8926340	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr12:8926340A>G	uc001quu.2	+	6	1372	c.1121A>G	c.(1120-1122)AAC>AGC	p.N374S	RIMKLB_uc009zgf.1_Intron|RIMKLB_uc001qux.2_Missense_Mutation_p.N374S|RIMKLB_uc010sgl.1_Missense_Mutation_p.N374S|RIMKLB_uc001quw.2_Intron	NM_020734	NP_065785	Q9ULI2	RIMKB_HUMAN	ribosomal modification protein rimK-like family	374					protein modification process	cytoplasm	acid-amino acid ligase activity|ATP binding|metal ion binding				0						TTCAACATGAACCAGCTGCTA	0.463												
M6PR	4074	broad.mit.edu	37	12	9095057	9095057	+	Silent	SNP	C	C	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr12:9095057C>T	uc001qvf.2	-	6	836	c.666G>A	c.(664-666)CAG>CAA	p.Q222Q		NM_002355	NP_002346	P20645	MPRD_HUMAN	cation-dependent mannose-6-phosphate receptor	222	Cytoplasmic (Potential).				endosome to lysosome transport|receptor-mediated endocytosis	cell surface|endosome|integral to plasma membrane|lysosomal membrane	mannose binding|mannose transmembrane transporter activity|transmembrane receptor activity				0		Hepatocellular(102;0.137)		BRCA - Breast invasive adenocarcinoma(232;0.0146)		AGTGGGGAAACTGCTCCATTC	0.473												
BCL2L14	79370	broad.mit.edu	37	12	12247797	12247797	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr12:12247797T>C	uc001rac.2	+	5	1079	c.878T>C	c.(877-879)GTC>GCC	p.V293A	ETV6_uc001raa.1_Intron|BCL2L14_uc001raf.1_Intron|BCL2L14_uc001rad.2_Missense_Mutation_p.V293A|BCL2L14_uc001rae.2_3'UTR	NM_138723	NP_620049	Q9BZR8	B2L14_HUMAN	BCL2-like 14 isoform 1	293					apoptosis|regulation of apoptosis	cytosol|endomembrane system|intracellular organelle|membrane	protein binding			skin(1)	1		Prostate(47;0.0872)		BRCA - Breast invasive adenocarcinoma(232;0.154)		ATGAACAGGGTCCTGGGCTTT	0.498												
LRP6	4040	broad.mit.edu	37	12	12339968	12339968	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr12:12339968G>A	uc001rah.3	-	4	875	c.733C>T	c.(733-735)CAC>TAC	p.H245Y	BCL2L14_uc001raf.1_Intron|LRP6_uc010shl.1_Missense_Mutation_p.H245Y	NM_002336	NP_002327	O75581	LRP6_HUMAN	low density lipoprotein receptor-related protein	245	Extracellular (Potential).|Beta-propeller 1.|LDL-receptor class B 5.				cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane	coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity|Wnt-protein binding			lung(4)|skin(4)|ovary(2)|kidney(1)|central_nervous_system(1)	12		Prostate(47;0.0865)				AAAATGGAGTGTGTGCTCCAG	0.448												
LMO3	55885	broad.mit.edu	37	12	16713448	16713448	+	Silent	SNP	G	G	A	rs149014326		TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr12:16713448G>A	uc001rdk.1	-	3	671	c.231C>T	c.(229-231)TGC>TGT	p.C77C	LMO3_uc001rdj.1_Silent_p.C88C|LMO3_uc010shy.1_Silent_p.C95C|LMO3_uc001rdl.1_Silent_p.C77C|LMO3_uc009zii.1_RNA|LMO3_uc010shz.1_Silent_p.C99C|LMO3_uc001rdm.1_Silent_p.C77C|LMO3_uc001rdo.1_RNA|LMO3_uc001rdp.1_RNA|LMO3_uc001rdn.1_Silent_p.C77C|LMO3_uc009zij.1_RNA|LMO3_uc009zik.1_RNA	NM_018640	NP_061110	Q8TAP4	LMO3_HUMAN	LIM domain only 3	77	LIM zinc-binding 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent		zinc ion binding				0		Hepatocellular(102;0.244)				TACAGGCAGCGCAGTTTCCCG	0.413												
RECQL	5965	broad.mit.edu	37	12	21628712	21628712	+	Silent	SNP	A	A	G			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr12:21628712A>G	uc001rex.2	-	10	1344	c.996T>C	c.(994-996)GTT>GTC	p.V332V	RECQL_uc001rey.2_Silent_p.V332V	NM_032941	NP_116559	P46063	RECQ1_HUMAN	RecQ protein-like	332	Helicase C-terminal.				DNA recombination|DNA repair|DNA replication	nucleus	ATP binding|ATP-dependent 3'-5' DNA helicase activity|DNA strand annealing activity|protein binding			ovary(1)|lung(1)	2						TCTGCAAACTAACCGTAACTT	0.378								Direct_reversal_of_damage|Other_identified_genes_with_known_or_suspected_DNA_repair_function				
ABCD2	225	broad.mit.edu	37	12	40013372	40013372	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr12:40013372T>C	uc001rmb.2	-	1	472	c.46A>G	c.(46-48)AGA>GGA	p.R16G		NM_005164	NP_005155	Q9UBJ2	ABCD2_HUMAN	ATP-binding cassette, sub-family D, member 2	16	Interaction with PEX19.				fatty acid metabolic process|transport	ATP-binding cassette (ABC) transporter complex|integral to plasma membrane|peroxisomal membrane	ATP binding|ATPase activity|protein binding			ovary(2)|upper_aerodigestive_tract(1)|pancreas(1)|central_nervous_system(1)|skin(1)	6						GCACTCGATCTGGTCCATTTC	0.473												
PRICKLE1	144165	broad.mit.edu	37	12	42859016	42859016	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr12:42859016C>T	uc010skv.1	-	7	1107	c.820G>A	c.(820-822)GCC>ACC	p.A274T	PRICKLE1_uc001rnl.2_Missense_Mutation_p.A274T|PRICKLE1_uc010skw.1_Missense_Mutation_p.A274T|PRICKLE1_uc001rnm.2_Missense_Mutation_p.A274T	NM_001144881	NP_001138353	Q96MT3	PRIC1_HUMAN	prickle homolog 1	274	LIM zinc-binding 3.				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)		GCTTCCGTGGCGTGCCAGTGC	0.473												
SLC38A4	55089	broad.mit.edu	37	12	47178327	47178327	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr12:47178327C>T	uc001rpi.2	-	7	890	c.491G>A	c.(490-492)GGA>GAA	p.G164E	SLC38A4_uc001rpj.2_Missense_Mutation_p.G164E|SLC38A4_uc009zkl.2_Missense_Mutation_p.G164E	NM_018018	NP_060488	Q969I6	S38A4_HUMAN	solute carrier family 38, member 4	164	Helical; (Potential).				cellular nitrogen compound metabolic process|sodium ion transport	integral to membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity			ovary(2)|central_nervous_system(1)|skin(1)	4	Lung SC(27;0.192)|Renal(347;0.236)					CCCCTTACCTCCAATGTTCTG	0.348												
ADCY6	112	broad.mit.edu	37	12	49167430	49167430	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr12:49167430A>G	uc001rsh.3	-	15	3103	c.2443T>C	c.(2443-2445)TAC>CAC	p.Y815H	ADCY6_uc001rsj.3_Missense_Mutation_p.Y815H|ADCY6_uc001rsi.3_Missense_Mutation_p.Y762H|ADCY6_uc010slw.1_Missense_Mutation_p.Y46H	NM_015270	NP_056085	O43306	ADCY6_HUMAN	adenylate cyclase 6 isoform a	815	Extracellular (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane	ATP binding|metal ion binding				0						CCGATGAAGTACTGCGGGGGT	0.597												
MLL2	8085	broad.mit.edu	37	12	49434800	49434800	+	Silent	SNP	C	C	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr12:49434800C>T	uc001rta.3	-	31	6753	c.6753G>A	c.(6751-6753)TCG>TCA	p.S2251S		NM_003482	NP_003473	O14686	MLL2_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 2	2251	Pro-rich.				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41						AGTTATCCAGCGAGGGGCAGC	0.667			N|F|Mis		medulloblastoma|renal					HNSCC(34;0.089)		
DIP2B	57609	broad.mit.edu	37	12	51100412	51100412	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr12:51100412T>C	uc001rwv.2	+	21	2654	c.2498T>C	c.(2497-2499)TTG>TCG	p.L833S	DIP2B_uc009zlt.2_Missense_Mutation_p.L263S	NM_173602	NP_775873	Q9P265	DIP2B_HUMAN	DIP2 disco-interacting protein 2 homolog B	833						nucleus	catalytic activity|transcription factor binding			ovary(4)|breast(1)|pancreas(1)	6						GCTACTGGATTGGCTGTAGAA	0.383												
SLC4A8	9498	broad.mit.edu	37	12	51865099	51865099	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr12:51865099C>T	uc001rys.1	+	14	1865	c.1687C>T	c.(1687-1689)CGA>TGA	p.R563*	SLC4A8_uc010sni.1_Nonsense_Mutation_p.R510*|SLC4A8_uc001rym.2_Nonsense_Mutation_p.R510*|SLC4A8_uc001ryn.2_Nonsense_Mutation_p.R510*|SLC4A8_uc001ryo.2_Nonsense_Mutation_p.R510*|SLC4A8_uc010snj.1_Nonsense_Mutation_p.R590*|SLC4A8_uc001ryq.3_Nonsense_Mutation_p.R563*|SLC4A8_uc001ryr.2_Nonsense_Mutation_p.R563*|SLC4A8_uc010snk.1_Nonsense_Mutation_p.R510*	NM_001039960	NP_001035049	Q2Y0W8	S4A8_HUMAN	solute carrier family 4, sodium bicarbonate	563	Extracellular (Potential).				bicarbonate transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity			ovary(3)|pancreas(1)|skin(1)	5				BRCA - Breast invasive adenocarcinoma(357;0.15)		CCTCTCCCTGCGAGCTTGTAT	0.468												
KRT84	3890	broad.mit.edu	37	12	52779139	52779139	+	Silent	SNP	G	G	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr12:52779139G>A	uc001sah.1	-	1	279	c.231C>T	c.(229-231)GTC>GTT	p.V77V		NM_033045	NP_149034	Q9NSB2	KRT84_HUMAN	keratin, hair, basic, 4	77	Head.					keratin filament	structural constituent of epidermis			skin(1)	1	all_hematologic(5;0.12)			BRCA - Breast invasive adenocarcinoma(357;0.189)		CACCAAAGCGGACTCCACAGT	0.597												
KRT74	121391	broad.mit.edu	37	12	52960950	52960950	+	Missense_Mutation	SNP	C	C	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr12:52960950C>A	uc001sap.1	-	9	1441	c.1393G>T	c.(1393-1395)GTC>TTC	p.V465F		NM_175053	NP_778223	Q7RTS7	K2C74_HUMAN	keratin 6 irs4	465	Tail.					keratin filament	structural molecule activity			ovary(1)|skin(1)	2				BRCA - Breast invasive adenocarcinoma(357;0.191)		CTGCTGATGACAGCTGAGGAG	0.607												
KRT18	3875	broad.mit.edu	37	12	53343180	53343180	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr12:53343180G>A	uc001sbe.2	+	2	292	c.223G>A	c.(223-225)GGA>AGA	p.G75R	KRT18_uc009zmn.1_Missense_Mutation_p.G75R|KRT18_uc001sbf.1_5'UTR|KRT18_uc001sbg.2_Missense_Mutation_p.G75R|KRT18_uc009zmo.2_Missense_Mutation_p.G75R|KRT8_uc009zml.1_Intron|KRT8_uc009zmm.1_Intron	NM_199187	NP_954657	P05783	K1C18_HUMAN	keratin 18	75	Head.|Necessary for interaction with PNN.				anatomical structure morphogenesis|cell cycle|Golgi to plasma membrane CFTR protein transport|interspecies interaction between organisms|negative regulation of apoptosis	centriolar satellite|keratin filament|perinuclear region of cytoplasm	protein binding|structural molecule activity			skin(1)	1						GGCAGGAATGGGAGGCATCCA	0.657												
AMHR2	269	broad.mit.edu	37	12	53818978	53818978	+	Silent	SNP	C	C	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr12:53818978C>T	uc001scx.1	+	4	532	c.454C>T	c.(454-456)CTG>TTG	p.L152L	AMHR2_uc009zmy.1_Silent_p.L152L	NM_020547	NP_065434	Q16671	AMHR2_HUMAN	anti-Mullerian hormone receptor, type II isoform	152	Helical; (Potential).				Mullerian duct regression		ATP binding|hormone binding|metal ion binding			ovary(1)|skin(1)	2					Adenosine triphosphate(DB00171)	ACTGGTGCTGCTGGGGCTGTT	0.577									Persistant_Mullerian_Duct_Syndrome_(type_I_and_II)			
ITGA5	3678	broad.mit.edu	37	12	54801974	54801974	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr12:54801974T>C	uc001sga.2	-	7	805	c.737A>G	c.(736-738)TAC>TGC	p.Y246C	ITGA5_uc010sow.1_RNA|ITGA5_uc009znp.1_RNA	NM_002205	NP_002196	P08648	ITA5_HUMAN	integrin alpha 5 precursor	246	Extracellular (Potential).				angiogenesis|axon guidance|blood coagulation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|wound healing, spreading of epidermal cells	alphav-beta3 integrin-vitronectin complex|integrin complex|ruffle	platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding			ovary(2)	2						GTACTCGGGGTAATAAGATTC	0.547												
LACRT	90070	broad.mit.edu	37	12	55025549	55025549	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr12:55025549C>T	uc001sgi.1	-	4	366	c.328G>A	c.(328-330)GTG>ATG	p.V110M		NM_033277	NP_150593	Q9GZZ8	LACRT_HUMAN	lacritin precursor	110					calcineurin-NFAT signaling pathway|positive regulation of epithelial cell proliferation|positive regulation of NFAT protein import into nucleus|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of secretion|protein localization in Golgi apparatus|tear secretion	extracellular region|stored secretory granule	collagen binding|fibronectin binding|glycoprotein binding|growth factor activity|laminin-1 binding|protein N-terminus binding			central_nervous_system(1)	1						CCACCTGGCACGCCTCCGTGC	0.468												
DGKA	1606	broad.mit.edu	37	12	56333930	56333930	+	Silent	SNP	T	T	C			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr12:56333930T>C	uc001sij.2	+	10	1038	c.774T>C	c.(772-774)TAT>TAC	p.Y258Y	DGKA_uc009zoc.1_Silent_p.Y258Y|DGKA_uc001sih.1_Silent_p.Y146Y|DGKA_uc001sii.1_Silent_p.Y116Y|DGKA_uc009zod.1_Silent_p.Y177Y|DGKA_uc009zoe.1_3'UTR|DGKA_uc001sik.2_Silent_p.Y258Y|DGKA_uc001sil.2_Silent_p.Y258Y|DGKA_uc001sim.2_Silent_p.Y258Y|DGKA_uc001sin.2_Silent_p.Y258Y|DGKA_uc009zof.2_Intron|DGKA_uc001sio.2_Missense_Mutation_p.M1T	NM_001345	NP_001336	P23743	DGKA_HUMAN	diacylglycerol kinase, alpha 80kDa	258					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity			ovary(3)|pancreas(1)	4					Vitamin E(DB00163)	TCAGCACCTATGCCAAGTCTC	0.557											OREG0021913	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
ERBB3	2065	broad.mit.edu	37	12	56489571	56489571	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr12:56489571G>A	uc001sjh.2	+	17	2229	c.2036G>A	c.(2035-2037)CGA>CAA	p.R679Q	ERBB3_uc009zoj.2_Intron|ERBB3_uc010sqb.1_Missense_Mutation_p.R36Q|ERBB3_uc010sqc.1_Missense_Mutation_p.R620Q|ERBB3_uc009zok.2_Missense_Mutation_p.R121Q|ERBB3_uc001sjk.2_5'Flank	NM_001982	NP_001973	P21860	ERBB3_HUMAN	erbB-3 isoform 1 precursor	679	Cytoplasmic (Potential).				cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing	basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex	ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			lung(3)|central_nervous_system(2)|stomach(1)|ovary(1)|skin(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			GCTATGAGGCGATACTTGGAA	0.433												
ANKRD52	283373	broad.mit.edu	37	12	56642611	56642611	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr12:56642611G>A	uc001skm.3	-	16	1726	c.1636C>T	c.(1636-1638)CGG>TGG	p.R546W		NM_173595	NP_775866	Q8NB46	ANR52_HUMAN	ankyrin repeat domain 52	546							protein binding			ovary(2)	2						TGCCTGTCCCGCAGGGAGGGG	0.637												
MYO1A	4640	broad.mit.edu	37	12	57435035	57435035	+	Missense_Mutation	SNP	T	T	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr12:57435035T>A	uc001smw.3	-	14	1445	c.1202A>T	c.(1201-1203)AAT>ATT	p.N401I	MYO1A_uc010sqz.1_Missense_Mutation_p.N239I|MYO1A_uc009zpd.2_Missense_Mutation_p.N401I	NM_005379	NP_005370	Q9UBC5	MYO1A_HUMAN	myosin IA	401	Myosin head-like.				sensory perception of sound|vesicle localization	brush border|cortical actin cytoskeleton|filamentous actin|lateral plasma membrane|microvillus|myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			skin(4)|ovary(2)|urinary_tract(1)	7						CAGCTTCTCATTGCAGTAGTT	0.443												
ARHGAP9	64333	broad.mit.edu	37	12	57871291	57871291	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr12:57871291A>G	uc001sod.2	-	7	1113	c.920T>C	c.(919-921)CTG>CCG	p.L307P	ARHGAP9_uc001sny.2_5'Flank|ARHGAP9_uc001snz.2_Missense_Mutation_p.L52P|ARHGAP9_uc001soa.2_5'UTR|ARHGAP9_uc001sob.2_Missense_Mutation_p.L236P|ARHGAP9_uc001soc.2_Missense_Mutation_p.L236P|ARHGAP9_uc001soe.1_Missense_Mutation_p.L315P|ARHGAP9_uc010sro.1_Missense_Mutation_p.L236P	NM_032496	NP_115885	Q9BRR9	RHG09_HUMAN	Rho GTPase activating protein 9 isoform 1	236	WW.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding			lung(1)	1			GBM - Glioblastoma multiforme(3;3.37e-34)			GCAGCCAGTCAGTGAATTTAT	0.632												
DCTN2	10540	broad.mit.edu	37	12	57924555	57924555	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr12:57924555G>A	uc001som.1	-	14	1255	c.1123C>T	c.(1123-1125)CAG>TAG	p.Q375*	DCTN2_uc009zpu.1_Nonsense_Mutation_p.Q380*|DCTN2_uc009zpv.1_Nonsense_Mutation_p.Q288*|DCTN2_uc009zpw.1_Nonsense_Mutation_p.Q288*|DCTN2_uc001soo.1_RNA|DCTN2_uc001son.1_Nonsense_Mutation_p.Q288*|DCTN2_uc001sop.1_Nonsense_Mutation_p.Q288*|DCTN2_uc001soq.1_RNA|DCTN2_uc009zpx.1_Nonsense_Mutation_p.Q351*	NM_006400	NP_006391	Q13561	DCTN2_HUMAN	dynactin 2	375					cell proliferation|G2/M transition of mitotic cell cycle|mitosis	centrosome|cytosol|dynactin complex|dynein complex|kinetochore|membrane|microtubule|vesicle	motor activity|protein binding			ovary(1)	1						ATGGTTGTCTGCACCTACAAA	0.478												
MON2	23041	broad.mit.edu	37	12	62943509	62943509	+	Missense_Mutation	SNP	A	A	G	rs71465159		TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr12:62943509A>G	uc001sre.2	+	23	3206	c.2815A>G	c.(2815-2817)ACA>GCA	p.T939A	MON2_uc009zqj.2_Missense_Mutation_p.T939A|MON2_uc010ssl.1_Missense_Mutation_p.T867A|MON2_uc010ssm.1_Missense_Mutation_p.T916A|MON2_uc010ssn.1_Missense_Mutation_p.T939A|MON2_uc001srf.2_Missense_Mutation_p.T702A	NM_015026	NP_055841	Q7Z3U7	MON2_HUMAN	MON2 homolog	940					Golgi to endosome transport|protein transport	cytoplasm	ARF guanyl-nucleotide exchange factor activity|binding			central_nervous_system(2)	2			BRCA - Breast invasive adenocarcinoma(9;0.218)	GBM - Glioblastoma multiforme(28;0.128)		TTTTCTACCAACAATGCCTTG	0.358												
MON2	23041	broad.mit.edu	37	12	62954787	62954787	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr12:62954787T>C	uc001sre.2	+	26	4317	c.3926T>C	c.(3925-3927)GTC>GCC	p.V1309A	MON2_uc009zqj.2_Missense_Mutation_p.V1309A|MON2_uc010ssl.1_Missense_Mutation_p.V1237A|MON2_uc010ssm.1_Missense_Mutation_p.V1286A|MON2_uc010ssn.1_Missense_Mutation_p.V1309A|MON2_uc001srf.2_Missense_Mutation_p.V1072A|MON2_uc001srg.2_Missense_Mutation_p.V184A	NM_015026	NP_055841	Q7Z3U7	MON2_HUMAN	MON2 homolog	1310					Golgi to endosome transport|protein transport	cytoplasm	ARF guanyl-nucleotide exchange factor activity|binding			central_nervous_system(2)	2			BRCA - Breast invasive adenocarcinoma(9;0.218)	GBM - Glioblastoma multiforme(28;0.128)		GCTATTTCAGTCCCAATAAGT	0.373												
RAP1B	5908	broad.mit.edu	37	12	69050939	69050939	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr12:69050939G>A	uc001sub.2	+	7	690	c.527G>A	c.(526-528)CGC>CAC	p.R176H	RAP1B_uc010ste.1_Missense_Mutation_p.R110H|RAP1B_uc001suc.2_Missense_Mutation_p.R176H|RAP1B_uc010stf.1_Missense_Mutation_p.R157H|RAP1B_uc010stg.1_Missense_Mutation_p.R134H|RAP1B_uc010sth.1_Missense_Mutation_p.R134H|RAP1B_uc010sti.1_Missense_Mutation_p.R129H	NM_001089704	NP_001083173	P61224	RAP1B_HUMAN	SubName: Full=Ras-related protein Rap-1A; SubName: Full=cDNA FLJ75985, highly similar to Homo sapiens RAP1A, member of RAS oncogene family (RAP1A), transcript variant 2, mRNA; SubName: Full=RAP1A, member of RAS oncogene family;	176					blood coagulation|energy reserve metabolic process|regulation of establishment of cell polarity|regulation of insulin secretion	cell-cell junction|cytosol	GDP binding|GTP binding|GTPase activity|protein binding				0	Breast(13;1.24e-05)		Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694)	GBM - Glioblastoma multiforme(7;0.000306)		GGGAAGGCTCGCAAAAAGTCA	0.378												
RAB3IP	117177	broad.mit.edu	37	12	70149312	70149312	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr12:70149312C>T	uc001svp.2	+	2	619	c.172C>T	c.(172-174)CGG>TGG	p.R58W	RAB3IP_uc001svl.1_Missense_Mutation_p.R42W|RAB3IP_uc001svm.2_Missense_Mutation_p.R42W|RAB3IP_uc001svn.2_Missense_Mutation_p.R42W|RAB3IP_uc001svo.2_RNA|RAB3IP_uc001svq.2_Missense_Mutation_p.R58W|RAB3IP_uc001svr.2_RNA|RAB3IP_uc001svs.2_RNA	NM_175623	NP_783322	Q96QF0	RAB3I_HUMAN	RAB3A interacting protein isoform alpha 2	58					cilium assembly|Golgi to plasma membrane transport|protein localization to organelle|protein transport	actin cortical patch|centrosome|cytosol|lamellipodium|microtubule basal body|nucleus	guanyl-nucleotide exchange factor activity|protein binding			ovary(1)	1	Esophageal squamous(21;0.187)		Lung(24;0.000381)|OV - Ovarian serous cystadenocarcinoma(12;0.00168)|STAD - Stomach adenocarcinoma(21;0.00694)			TGTCATCTACCGGCCACACCC	0.468												
NAP1L1	4673	broad.mit.edu	37	12	76453978	76453978	+	Silent	SNP	A	A	G			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr12:76453978A>G	uc001sxw.2	-	5	700	c.288T>C	c.(286-288)TAT>TAC	p.Y96Y	NAP1L1_uc001sxv.2_Silent_p.Y54Y|NAP1L1_uc001sxz.2_Silent_p.Y54Y|NAP1L1_uc001sxx.2_Silent_p.Y96Y|NAP1L1_uc001sxy.2_Silent_p.Y33Y|NAP1L1_uc010sty.1_Silent_p.Y54Y|NAP1L1_uc010stz.1_5'UTR|NAP1L1_uc010sua.1_Silent_p.Y96Y|NAP1L1_uc001syb.2_Silent_p.Y96Y|NAP1L1_uc001sya.2_Silent_p.Y54Y|NAP1L1_uc001syc.2_Silent_p.Y96Y	NM_139207	NP_631946	P55209	NP1L1_HUMAN	nucleosome assembly protein 1-like 1	96					DNA replication|nucleosome assembly|positive regulation of cell proliferation	chromatin assembly complex|melanosome	protein binding			ovary(1)|skin(1)	2		Colorectal(145;0.09)				GAACTTCCTCATAGAATTTGG	0.373												
NAV3	89795	broad.mit.edu	37	12	78513556	78513556	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr12:78513556G>A	uc001syp.2	+	15	3753	c.3580G>A	c.(3580-3582)GTC>ATC	p.V1194I	NAV3_uc001syo.2_Missense_Mutation_p.V1194I|NAV3_uc010sub.1_Missense_Mutation_p.V694I|NAV3_uc009zsf.2_Missense_Mutation_p.V202I	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN	neuron navigator 3	1194	Ser-rich.					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	17						TCCTGTCACCGTCAACCAAAC	0.512										HNSCC(70;0.22)		
PPFIA2	8499	broad.mit.edu	37	12	81688718	81688718	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr12:81688718T>C	uc001szo.1	-	24	2982	c.2821A>G	c.(2821-2823)AGA>GGA	p.R941G	PPFIA2_uc010sue.1_Intron|PPFIA2_uc010sug.1_RNA|PPFIA2_uc010suh.1_RNA|PPFIA2_uc010sui.1_RNA|PPFIA2_uc010suj.1_RNA|PPFIA2_uc009zsi.1_RNA|PPFIA2_uc010suf.1_RNA|PPFIA2_uc009zsh.2_RNA	NM_003625	NP_003616	B7Z663	B7Z663_HUMAN	PTPRF interacting protein alpha 2	867										ovary(3)|lung(2)|pancreas(1)	6						CCAATTTCTCTCTGGATCTCA	0.498												
PPFIA2	8499	broad.mit.edu	37	12	81839401	81839401	+	Silent	SNP	G	G	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr12:81839401G>T	uc001szo.1	-	6	665	c.504C>A	c.(502-504)TCC>TCA	p.S168S	PPFIA2_uc010sue.1_Silent_p.S68S|PPFIA2_uc010sug.1_RNA|PPFIA2_uc010suh.1_RNA|PPFIA2_uc010sui.1_RNA|PPFIA2_uc010suj.1_RNA|PPFIA2_uc009zsi.1_RNA	NM_003625	NP_003616	B7Z663	B7Z663_HUMAN	PTPRF interacting protein alpha 2	94										ovary(3)|lung(2)|pancreas(1)	6						CAACTTCACTGGATACTCCTG	0.438												
CCDC41	51134	broad.mit.edu	37	12	94772812	94772812	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr12:94772812T>C	uc001tdd.2	-	7	1142	c.556A>G	c.(556-558)AGA>GGA	p.R186G	CCDC41_uc001tde.2_Missense_Mutation_p.R186G|CCDC41_uc009zsw.1_RNA|CCDC41_uc001tdf.2_Missense_Mutation_p.R186G	NM_016122	NP_057206	Q9Y592	CCD41_HUMAN	NY-REN-58 antigen	178	Potential.										0						TCCTCCAGTCTTGCAATCTAA	0.318												
CCDC38	120935	broad.mit.edu	37	12	96288828	96288828	+	Silent	SNP	T	T	C			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr12:96288828T>C	uc001tek.1	-	8	945	c.711A>G	c.(709-711)GCA>GCG	p.A237A		NM_182496	NP_872302	Q502W7	CCD38_HUMAN	coiled-coil domain containing 38	237										skin(1)	1						CTCTTTTTAGTGCTTGCTGGA	0.338												
IKBIP	121457	broad.mit.edu	37	12	99007899	99007899	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr12:99007899T>C	uc001tfv.2	-	3	627	c.517A>G	c.(517-519)ACA>GCA	p.T173A	IKBIP_uc001tfw.2_3'UTR	NM_201612	NP_963906	Q70UQ0	IKIP_HUMAN	IKK interacting protein isoform 2	173					induction of apoptosis|response to X-ray	endoplasmic reticulum membrane|integral to membrane	protein binding				0						TTTACACTTGTAATCTTGAGA	0.348												
GAS2L3	283431	broad.mit.edu	37	12	100994275	100994275	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr12:100994275C>T	uc001thu.2	+	4	360	c.134C>T	c.(133-135)GCC>GTC	p.A45V	GAS2L3_uc009zty.2_Missense_Mutation_p.A45V|GAS2L3_uc001thv.2_5'UTR	NM_174942	NP_777602	Q86XJ1	GA2L3_HUMAN	growth arrest-specific 2 like 3	45					cell cycle arrest					skin(1)	1						AGGCATGAAGCCACTTTGTTG	0.428												
NT5DC3	51559	broad.mit.edu	37	12	104200659	104200659	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr12:104200659G>A	uc010swe.1	-	3	483	c.442C>T	c.(442-444)CGT>TGT	p.R148C		NM_001031701	NP_001026871	Q86UY8	NT5D3_HUMAN	5'-nucleotidase domain containing 3	148							hydrolase activity|metal ion binding			ovary(2)|skin(1)	3						TGAAGTCCACGAATTGCAAAA	0.373												
ACACB	32	broad.mit.edu	37	12	109702084	109702084	+	Silent	SNP	C	C	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr12:109702084C>T	uc001tob.2	+	50	6954	c.6835C>T	c.(6835-6837)CTA>TTA	p.L2279L	ACACB_uc001toc.2_Silent_p.L2279L|ACACB_uc010sxl.1_RNA|ACACB_uc001tod.2_RNA|ACACB_uc010sxm.1_Silent_p.L945L	NM_001093	NP_001084	O00763	ACACB_HUMAN	acetyl-Coenzyme A carboxylase beta	2279	Carboxyltransferase.				acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			ovary(5)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1)	8					Biotin(DB00121)	GGAGGGCCGGCTAAAGGCTCG	0.612											OREG0022102	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
TRPV4	59341	broad.mit.edu	37	12	110232159	110232159	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr12:110232159G>A	uc001tpj.1	-	7	1561	c.1466C>T	c.(1465-1467)GCC>GTC	p.A489V	TRPV4_uc001tpg.1_Missense_Mutation_p.A455V|TRPV4_uc001tph.1_Missense_Mutation_p.A442V|TRPV4_uc001tpi.1_Missense_Mutation_p.A382V|TRPV4_uc001tpk.1_Missense_Mutation_p.A489V|TRPV4_uc001tpl.1_Missense_Mutation_p.A429V	NM_021625	NP_067638	Q9HBA0	TRPV4_HUMAN	transient receptor potential cation channel,	489	Extracellular (Potential).				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						CTGGTAGTAGGCGGTGAGAGT	0.627												
TRPV4	59341	broad.mit.edu	37	12	110240832	110240832	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr12:110240832A>G	uc001tpj.1	-	3	771	c.676T>C	c.(676-678)TTC>CTC	p.F226L	TRPV4_uc001tpg.1_Missense_Mutation_p.F192L|TRPV4_uc001tph.1_Missense_Mutation_p.F226L|TRPV4_uc001tpi.1_Missense_Mutation_p.F226L|TRPV4_uc001tpk.1_Missense_Mutation_p.F226L|TRPV4_uc001tpl.1_Missense_Mutation_p.F226L	NM_021625	NP_067638	Q9HBA0	TRPV4_HUMAN	transient receptor potential cation channel,	226	Cytoplasmic (Potential).				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						GAGTTAATGAACTCCCTCATG	0.627												
GLTP	51228	broad.mit.edu	37	12	110293442	110293442	+	Silent	SNP	G	G	A	rs138733952		TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr12:110293442G>A	uc001tpm.2	-	4	543	c.429C>T	c.(427-429)ATC>ATT	p.I143I	GLTP_uc010sxt.1_RNA	NM_016433	NP_057517	Q9NZD2	GLTP_HUMAN	glycolipid transfer protein	143						cytoplasm	glycolipid binding|glycolipid transporter activity				0		Lung NSC(355;2.38e-06)|Breast(359;0.00354)|Myeloproliferative disorder(1001;0.0122)		BRCA - Breast invasive adenocarcinoma(302;0.0025)		TCTTCTGCACGATCCAGCCAT	0.617												
SUDS3	64426	broad.mit.edu	37	12	118841306	118841306	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr12:118841306T>C	uc001twz.2	+	10	926	c.787T>C	c.(787-789)TAC>CAC	p.Y263H		NM_022491	NP_071936	Q9H7L9	SDS3_HUMAN	suppressor of defective silencing 3	263					chromatin modification|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	Sin3 complex	histone deacetylase binding				0	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TGGCAAACTGTACTATGACAA	0.478												
GCN1L1	10985	broad.mit.edu	37	12	120567103	120567103	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr12:120567103G>A	uc001txo.2	-	57	7880	c.7867C>T	c.(7867-7869)CGG>TGG	p.R2623W		NM_006836	NP_006827	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis	2623	HEAT 24.				regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding			ovary(4)	4	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TCACCCTGCCGCATCTTGAGG	0.522												
PXN	5829	broad.mit.edu	37	12	120660799	120660799	+	Silent	SNP	G	G	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr12:120660799G>A	uc001txt.2	-	4	491	c.360C>T	c.(358-360)TTC>TTT	p.F120F	PXN_uc001txv.2_5'UTR|PXN_uc001txx.2_5'UTR|PXN_uc001txy.2_Silent_p.F120F|PXN_uc001txz.2_RNA|uc001tya.2_5'Flank	NM_001080855	NP_001074324	P49023	PAXI_HUMAN	paxillin isoform 1	120					cell junction assembly|cell-matrix adhesion|cellular response to reactive oxygen species|epidermal growth factor receptor signaling pathway|growth hormone receptor signaling pathway|muscle contraction|signal complex assembly	cytoplasm|focal adhesion|lamellipodium|microtubule associated complex	beta-catenin binding|vinculin binding|zinc ion binding			ovary(1)|breast(1)	2	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GCTTGTTGGGGAAGCTTTGAG	0.532												
GATC	283459	broad.mit.edu	37	12	120894950	120894950	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr12:120894950G>A	uc010szi.1	+	3	326	c.326G>A	c.(325-327)CGC>CAC	p.R109H		NM_176818	NP_789788	O43716	GATCL_HUMAN	glutamyl-tRNA(Gln) amidotransferase, subunit C	109					regulation of translational fidelity						0	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					AACTCCCATCGCGTCGTGGAG	0.478											OREG0022192	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
RHOF	54509	broad.mit.edu	37	12	122219030	122219030	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr12:122219030C>T	uc001ubb.2	-	3	350	c.295G>A	c.(295-297)GAC>AAC	p.D99N	TMEM120B_uc001ubc.3_3'UTR|TMEM120B_uc009zxh.2_3'UTR|TMEM120B_uc001uba.1_RNA|RHOF_uc001ubd.3_Missense_Mutation_p.D99N	NM_019034	NP_061907	Q9HBH0	RHOF_HUMAN	ras homolog gene family, member F precursor	99					actin filament organization|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|plasma membrane	GTP binding|GTPase activity			ovary(1)	1	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;4.38e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.223)		TTCATGACGTCATAGCAGATG	0.637												
WDR66	144406	broad.mit.edu	37	12	122395142	122395142	+	Missense_Mutation	SNP	C	C	G			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr12:122395142C>G	uc009zxk.2	+	11	1840	c.1698C>G	c.(1696-1698)GAC>GAG	p.D566E		NM_144668	NP_653269	Q8TBY9	WDR66_HUMAN	WD repeat domain 66	566							calcium ion binding			ovary(1)|skin(1)	2	all_neural(191;0.0496)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000155)|Epithelial(86;0.000634)|BRCA - Breast invasive adenocarcinoma(302;0.248)		ATCCTCCTGACTGCACTTTAA	0.378												
KNTC1	9735	broad.mit.edu	37	12	123073263	123073263	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr12:123073263T>C	uc001ucv.2	+	40	4062	c.3899T>C	c.(3898-3900)TTT>TCT	p.F1300S	KNTC1_uc010taf.1_Intron	NM_014708	NP_055523	P50748	KNTC1_HUMAN	Rough Deal homolog, centromere/kinetochore	1300					cell division|mitotic cell cycle checkpoint|mitotic prometaphase|protein complex assembly|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|kinetochore microtubule|nucleus|spindle pole	protein binding			ovary(5)|kidney(3)|lung(1)|central_nervous_system(1)	10	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)		TAAAAGTTATTTGGAGAGACT	0.269												
HIP1R	9026	broad.mit.edu	37	12	123333393	123333393	+	Silent	SNP	C	C	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr12:123333393C>T	uc001udj.1	+	4	410	c.351C>T	c.(349-351)GAC>GAT	p.D117D	HIP1R_uc001udg.1_Silent_p.D105D|HIP1R_uc001udi.1_Silent_p.D117D|HIP1R_uc001udh.2_Silent_p.D117D	NM_003959	NP_003950	O75146	HIP1R_HUMAN	huntingtin interacting protein-1-related	117	ENTH.				receptor-mediated endocytosis	clathrin coated vesicle membrane|coated pit|perinuclear region of cytoplasm	actin binding|phosphatidylinositol binding			ovary(1)	1	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;4.6e-05)|Epithelial(86;0.000119)|BRCA - Breast invasive adenocarcinoma(302;0.2)		AGATTGGAGACCTGTGGGTAG	0.637												
MPHOSPH9	10198	broad.mit.edu	37	12	123706165	123706165	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr12:123706165A>G	uc001uel.2	-	1	277	c.170T>C	c.(169-171)CTG>CCG	p.L57P	MPHOSPH9_uc010tal.1_5'UTR|MPHOSPH9_uc010tam.1_RNA|MPHOSPH9_uc001uem.2_5'UTR	NM_022782	NP_073619	Q99550	MPP9_HUMAN	M-phase phosphoprotein 9	57					M phase of mitotic cell cycle	centriole|Golgi membrane					0	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000182)|Epithelial(86;0.00046)|BRCA - Breast invasive adenocarcinoma(302;0.169)		AGATTTGTACAGATTTAATTC	0.443												
SNRNP35	11066	broad.mit.edu	37	12	123950369	123950369	+	Silent	SNP	C	C	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr12:123950369C>T	uc001ufb.1	+	2	398	c.282C>T	c.(280-282)TAC>TAT	p.Y94Y	SNRNP35_uc010tar.1_Silent_p.Y99Y|SNRNP35_uc009zxz.2_Silent_p.Y99Y|SNRNP35_uc001ufc.1_Intron	NM_022717	NP_073208	Q16560	U1SBP_HUMAN	small nuclear ribonucleoprotein 35kDa (U11/U12)	94	RRM.				mRNA processing	U12-type spliceosomal complex	nucleotide binding|RNA binding				0						CAAAGGGCTACGCCTTCATCG	0.507												
TCTN2	79867	broad.mit.edu	37	12	124191372	124191372	+	Silent	SNP	T	T	C			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr12:124191372T>C	uc001ufp.2	+	16	1997	c.1869T>C	c.(1867-1869)CCT>CCC	p.P623P	TCTN2_uc009zya.2_Silent_p.P622P	NM_024809	NP_079085	Q96GX1	TECT2_HUMAN	tectonic family member 2 isoform 1	623	Extracellular (Potential).				cilium assembly|smoothened signaling pathway	integral to membrane				ovary(1)	1	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000163)|Epithelial(86;0.000502)|all cancers(50;0.00451)		TTAAAATTCCTGCACAGTTAC	0.453												
PIWIL1	9271	broad.mit.edu	37	12	130846109	130846109	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr12:130846109G>A	uc001uik.2	+	16	2023	c.1933G>A	c.(1933-1935)GCA>ACA	p.A645T	PIWIL1_uc001uij.1_Missense_Mutation_p.A645T	NM_004764	NP_004755	Q96J94	PIWL1_HUMAN	piwi-like 1	645	RNA-binding (By similarity).|Piwi.				gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatid development	chromatoid body|P granule	mRNA binding|piRNA binding|protein binding			ovary(2)	2	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)		GAGGTCAATCGCAGGATTTGT	0.483												
PABPC3	5042	broad.mit.edu	37	13	25670687	25670687	+	Missense_Mutation	SNP	T	T	G			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr13:25670687T>G	uc001upy.2	+	1	412	c.351T>G	c.(349-351)GAT>GAG	p.D117E		NM_030979	NP_112241	Q9H361	PABP3_HUMAN	poly(A) binding protein, cytoplasmic 3	117	RRM 2.				mRNA metabolic process	cytoplasm	nucleotide binding|poly(A) RNA binding			ovary(3)|skin(1)	4		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		CACTGTATGATACAGTTTCTG	0.393												
NUPL1	9818	broad.mit.edu	37	13	25911075	25911075	+	Silent	SNP	G	G	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr13:25911075G>A	uc001uqi.2	+	14	1683	c.1437G>A	c.(1435-1437)GGG>GGA	p.G479G	NUPL1_uc001uqj.2_Silent_p.G467G	NM_014089	NP_054808	Q9BVL2	NUPL1_HUMAN	nucleoporin like 1 isoform a	479	14 X 2 AA repeats of F-G.				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear membrane|nuclear pore					0		Lung SC(185;0.0225)|Breast(139;0.0351)		all cancers(112;0.0092)|Epithelial(112;0.0477)|OV - Ovarian serous cystadenocarcinoma(117;0.165)|GBM - Glioblastoma multiforme(144;0.244)		TTATACCAGGGCCACAGCCAT	0.373												
SLC46A3	283537	broad.mit.edu	37	13	29286869	29286869	+	Missense_Mutation	SNP	C	C	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr13:29286869C>A	uc001usi.2	-	2	1978	c.1008G>T	c.(1006-1008)ATG>ATT	p.M336I	SLC46A3_uc001usg.2_Missense_Mutation_p.M261I|SLC46A3_uc001usj.2_Missense_Mutation_p.M336I|SLC46A3_uc001ush.2_Missense_Mutation_p.M336I|SLC46A3_uc001usk.2_Missense_Mutation_p.M261I	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)		CCATTCCTGTCATCGTGGTAA	0.373												
NBEA	26960	broad.mit.edu	37	13	35716483	35716483	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr13:35716483T>C	uc001uvb.2	+	19	2620	c.2414T>C	c.(2413-2415)GTG>GCG	p.V805A		NM_015678	NP_056493	Q8NFP9	NBEA_HUMAN	neurobeachin	805						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)		ACAAACACTGTGACTGTCACC	0.299												
MAB21L1	4081	broad.mit.edu	37	13	36049859	36049859	+	Silent	SNP	C	C	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr13:36049859C>T	uc001uvc.2	-	1	974	c.417G>A	c.(415-417)GCG>GCA	p.A139A	NBEA_uc001uvb.2_Intron|NBEA_uc010abi.2_Intron|NBEA_uc010tee.1_Intron|NBEA_uc010tef.1_5'Flank|NBEA_uc010teg.1_5'Flank	NM_005584	NP_005575	Q13394	MB211_HUMAN	mab-21-like protein 1	139					anatomical structure morphogenesis	nucleus				ovary(2)	2		Breast(139;0.014)|Lung SC(185;0.051)|Prostate(109;0.202)		all cancers(112;9.63e-08)|Epithelial(112;1.37e-06)|BRCA - Breast invasive adenocarcinoma(63;0.000659)|OV - Ovarian serous cystadenocarcinoma(117;0.00372)|GBM - Glioblastoma multiforme(144;0.115)		ATTTGTCTACCGCTTGAGCCA	0.562												
DCLK1	9201	broad.mit.edu	37	13	36700166	36700166	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr13:36700166C>T	uc001uvf.2	-	2	342	c.109G>A	c.(109-111)GCC>ACC	p.A37T		NM_004734	NP_004725	O15075	DCLK1_HUMAN	doublecortin-like kinase 1	37					cell differentiation|central nervous system development|endosome transport|intracellular signal transduction|response to virus	integral to plasma membrane	ATP binding|protein serine/threonine kinase activity|receptor signaling protein activity			stomach(6)|ovary(2)|skin(1)	9		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)		CTGCAGTGGGCGCTGTGCGTC	0.607												
C13orf36	400120	broad.mit.edu	37	13	37269461	37269461	+	Silent	SNP	C	C	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr13:37269461C>T	uc001uvt.3	+	2	692	c.246C>T	c.(244-246)GAC>GAT	p.D82D		NM_203451	NP_982276	A2A2V5	CM036_HUMAN	hypothetical protein LOC400120	82						integral to membrane				skin(1)	1						ATCCAAGCGACGCTGGAAGTT	0.453												
POSTN	10631	broad.mit.edu	37	13	38160400	38160400	+	Silent	SNP	C	C	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr13:38160400C>T	uc001uwo.3	-	7	889	c.771G>A	c.(769-771)TCG>TCA	p.S257S	POSTN_uc001uwp.3_Silent_p.S257S|POSTN_uc001uwr.2_Silent_p.S257S|POSTN_uc001uwq.2_Silent_p.S257S|POSTN_uc010teu.1_Silent_p.S257S|POSTN_uc010tev.1_Silent_p.S257S|POSTN_uc010tew.1_Silent_p.S257S|POSTN_uc010tex.1_Silent_p.S172S	NM_006475	NP_006466	Q15063	POSTN_HUMAN	periostin, osteoblast specific factor isoform 1	257	FAS1 2.				cell adhesion|skeletal system development	proteinaceous extracellular matrix	heparin binding			ovary(2)	2		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)		CCAATATGTCCGATGTGATGG	0.458												
KBTBD6	89890	broad.mit.edu	37	13	41706053	41706053	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr13:41706053T>C	uc001uxu.1	-	1	884	c.595A>G	c.(595-597)AAC>GAC	p.N199D	KBTBD6_uc010ace.1_Intron|KBTBD6_uc010tfe.1_Missense_Mutation_p.N133D|uc001uxv.1_5'Flank	NM_152903	NP_690867	Q86V97	KBTB6_HUMAN	kelch repeat and BTB (POZ) domain-containing 6	199							protein binding			ovary(1)|skin(1)	2		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		all cancers(112;4.08e-09)|Epithelial(112;4.74e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000131)|GBM - Glioblastoma multiforme(144;0.000876)|BRCA - Breast invasive adenocarcinoma(63;0.0673)		TGCTTGAAGTTCTGAGCTATA	0.562												
AKAP11	11215	broad.mit.edu	37	13	42876041	42876041	+	Silent	SNP	A	A	G			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr13:42876041A>G	uc001uys.1	+	8	3334	c.3159A>G	c.(3157-3159)ACA>ACG	p.T1053T		NM_016248	NP_057332	Q9UKA4	AKA11_HUMAN	A-kinase anchor protein 11	1053					intracellular protein kinase cascade	microtubule organizing center	protein kinase A binding|protein phosphatase 1 binding			ovary(1)|central_nervous_system(1)	2		Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19)		TGAATAGTACATCACTTGAGG	0.428												
ENOX1	55068	broad.mit.edu	37	13	43934001	43934001	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr13:43934001G>A	uc001uza.3	-	7	875	c.575C>T	c.(574-576)GCC>GTC	p.A192V	ENOX1_uc001uzb.3_Missense_Mutation_p.A192V|ENOX1_uc001uzc.3_Missense_Mutation_p.A192V|ENOX1_uc010tfm.1_Missense_Mutation_p.A5V	NM_001127615	NP_001121087	Q8TC92	ENOX1_HUMAN	ecto-NOX disulfide-thiol exchanger 1	192	RRM.				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)		AAGGTAAATGGCTTTATCAAC	0.368												
SPERT	220082	broad.mit.edu	37	13	46287374	46287374	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr13:46287374G>A	uc001van.1	+	3	294	c.214G>A	c.(214-216)GCG>ACG	p.A72T	SPERT_uc001vao.2_Missense_Mutation_p.A36T	NM_152719	NP_689932	Q8NA61	SPERT_HUMAN	spermatid associated	72						cytoplasmic membrane-bounded vesicle				central_nervous_system(1)|pancreas(1)	2		Breast(56;0.000819)|Lung NSC(96;0.00227)|Prostate(109;0.00703)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;7.26e-05)		CCCTCGCTGCGCGCAGCAGGC	0.652												
SPERT	220082	broad.mit.edu	37	13	46287395	46287395	+	Missense_Mutation	SNP	C	C	T	rs149478922		TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr13:46287395C>T	uc001van.1	+	3	315	c.235C>T	c.(235-237)CGG>TGG	p.R79W	SPERT_uc001vao.2_Missense_Mutation_p.R43W	NM_152719	NP_689932	Q8NA61	SPERT_HUMAN	spermatid associated	79						cytoplasmic membrane-bounded vesicle				central_nervous_system(1)|pancreas(1)	2		Breast(56;0.000819)|Lung NSC(96;0.00227)|Prostate(109;0.00703)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;7.26e-05)		CGCCCTGCCCCGGCTGAGCCG	0.667												
RB1	5925	broad.mit.edu	37	13	48919305	48919305	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr13:48919305T>C	uc001vcb.2	+	4	636	c.470T>C	c.(469-471)GTA>GCA	p.V157A	RB1_uc010acs.1_Intron	NM_000321	NP_000312	P06400	RB_HUMAN	retinoblastoma 1	157					androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	p.?(5)		lung(94)|eye(89)|central_nervous_system(47)|bone(22)|breast(21)|urinary_tract(17)|haematopoietic_and_lymphoid_tissue(14)|ovary(10)|prostate(9)|soft_tissue(8)|skin(7)|endometrium(5)|cervix(3)|liver(3)|salivary_gland(2)|stomach(2)|oesophagus(1)|adrenal_gland(1)|kidney(1)|gastrointestinal_tract_(site_indeterminate)(1)|pituitary(1)	358		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	AAGTATGATGTATTGTTTGCA	0.303		6	D|Mis|N|F|S		retinoblastoma|sarcoma|breast|small cell lung	retinoblastoma|sarcoma|breast|small cell lung			Hereditary_Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)		
SETDB2	83852	broad.mit.edu	37	13	50062611	50062611	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr13:50062611C>T	uc001vcz.2	+	13	2704	c.1798C>T	c.(1798-1800)CGA>TGA	p.R600*	SETDB2_uc010adh.2_3'UTR|SETDB2_uc001vda.2_Nonsense_Mutation_p.R588*	NM_031915	NP_114121	Q96T68	SETB2_HUMAN	SET domain, bifurcated 2 isoform a	600	SET.				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			ovary(1)|central_nervous_system(1)	2		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)		CCAAGAGGGACGATCTACAGC	0.393												
FAM124A	220108	broad.mit.edu	37	13	51854685	51854685	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr13:51854685A>G	uc001vfg.1	+	4	1065	c.934A>G	c.(934-936)AGC>GGC	p.S312G	FAM124A_uc001vff.1_Missense_Mutation_p.S348G	NM_145019	NP_659456	Q86V42	F124A_HUMAN	hypothetical protein LOC220108	312										central_nervous_system(1)	1		Acute lymphoblastic leukemia(7;0.000334)|Breast(56;0.00156)|Prostate(109;0.00538)|Lung NSC(96;0.0216)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;4.25e-07)		TGCTGTACCAAGCCATACACC	0.587												
UTP14C	9724	broad.mit.edu	37	13	52603377	52603377	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr13:52603377T>C	uc001vgb.2	+	2	972	c.437T>C	c.(436-438)ATC>ACC	p.I146T	UTP14C_uc001vga.2_3'UTR|UTP14C_uc001vgc.2_RNA	NM_021645	NP_067677	Q5TAP6	UT14C_HUMAN	UTP14, U3 small nucleolar ribonucleoprotein,	146					cell differentiation|meiosis|multicellular organismal development|rRNA processing|spermatogenesis	nucleolus|small-subunit processome				ovary(3)|large_intestine(1)|breast(1)	5		Breast(56;0.00173)|Lung NSC(96;0.0108)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;2.3e-08)		TGGGACCCTATCATCCTGAAG	0.498												
PCDH8	5100	broad.mit.edu	37	13	53418897	53418897	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr13:53418897T>C	uc001vhi.2	-	3	3214	c.3011A>G	c.(3010-3012)TAC>TGC	p.Y1004C	PCDH8_uc001vhj.2_Missense_Mutation_p.Y907C	NM_002590	NP_002581	O95206	PCDH8_HUMAN	protocadherin 8 isoform 1 precursor	1004	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)		CTGGGCCTGGTAGTAATTGTC	0.587												
PCDH8	5100	broad.mit.edu	37	13	53420526	53420526	+	Silent	SNP	G	G	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr13:53420526G>A	uc001vhi.2	-	1	2249	c.2046C>T	c.(2044-2046)CCC>CCT	p.P682P	PCDH8_uc001vhj.2_Silent_p.P682P	NM_002590	NP_002581	O95206	PCDH8_HUMAN	protocadherin 8 isoform 1 precursor	682	Extracellular (Potential).|Cadherin 6.				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)		ACACGCGACCGGGTGGCTCCT	0.701												
PCDH20	64881	broad.mit.edu	37	13	61987878	61987878	+	Silent	SNP	G	G	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr13:61987878G>T	uc001vid.3	-	2	718	c.354C>A	c.(352-354)TCC>TCA	p.S118S	PCDH20_uc010thj.1_Silent_p.S118S	NM_022843	NP_073754	Q8N6Y1	PCD20_HUMAN	protocadherin 20	91	Cadherin 1.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|breast(1)|central_nervous_system(1)	6		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)		CCAGGCTGAAGGAGAGAGGGG	0.682												
MYCBP2	23077	broad.mit.edu	37	13	77672481	77672481	+	Silent	SNP	G	G	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr13:77672481G>A	uc001vkf.2	-	57	8785	c.8694C>T	c.(8692-8694)TGC>TGT	p.C2898C	MYCBP2_uc010aev.2_Silent_p.C2302C|MYCBP2_uc001vkg.1_Silent_p.C421C|MYCBP2_uc010aew.2_Silent_p.C284C	NM_015057	NP_055872	O75592	MYCB2_HUMAN	MYC binding protein 2	2898					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			ovary(4)|breast(4)|skin(3)|lung(2)|pancreas(1)	14		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		TACTTGAGGTGCAGACTTCGA	0.428												
MYCBP2	23077	broad.mit.edu	37	13	77718664	77718664	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr13:77718664T>C	uc001vkf.2	-	50	7196	c.7105A>G	c.(7105-7107)AAT>GAT	p.N2369D	MYCBP2_uc010aev.2_Missense_Mutation_p.N1773D	NM_015057	NP_055872	O75592	MYCB2_HUMAN	MYC binding protein 2	2369	Filamin.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			ovary(4)|breast(4)|skin(3)|lung(2)|pancreas(1)	14		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		GTCCCATCATTATTGACACGG	0.368												
MYCBP2	23077	broad.mit.edu	37	13	77900654	77900654	+	Missense_Mutation	SNP	T	T	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr13:77900654T>A	uc001vkf.2	-	2	234	c.143A>T	c.(142-144)AAT>ATT	p.N48I	MYCBP2_uc010aev.2_5'UTR	NM_015057	NP_055872	O75592	MYCB2_HUMAN	MYC binding protein 2	48					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			ovary(4)|breast(4)|skin(3)|lung(2)|pancreas(1)	14		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		GTCCCTGTCATTGAGCGCAGC	0.711												
SLITRK1	114798	broad.mit.edu	37	13	84453749	84453749	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr13:84453749C>T	uc001vlk.2	-	1	2780	c.1894G>A	c.(1894-1896)GCC>ACC	p.A632T		NM_052910	NP_443142	Q96PX8	SLIK1_HUMAN	slit and trk like 1 protein precursor	632	Helical; (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)		ACGGTGAAGGCGGAGGTGACA	0.587												
SLITRK1	114798	broad.mit.edu	37	13	84455314	84455314	+	Missense_Mutation	SNP	C	C	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr13:84455314C>A	uc001vlk.2	-	1	1215	c.329G>T	c.(328-330)AGG>ATG	p.R110M		NM_052910	NP_443142	Q96PX8	SLIK1_HUMAN	slit and trk like 1 protein precursor	110	Extracellular (Potential).|LRR 3.					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)		GATGTGCAGCCTTTTCACCAG	0.438												
GPC6	10082	broad.mit.edu	37	13	95034795	95034795	+	Missense_Mutation	SNP	G	G	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr13:95034795G>T	uc001vlt.2	+	7	1912	c.1280G>T	c.(1279-1281)AGC>ATC	p.S427I		NM_005708	NP_005699	Q9Y625	GPC6_HUMAN	glypican 6 precursor	427						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding				0	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;5.48e-07)|all_epithelial(2;5.69e-08)|all_lung(2;2.19e-05)|Lung NSC(4;6.09e-05)|Breast(118;0.0395)|Renal(2;0.0568)|Hepatocellular(115;0.217)				AACGGGCACAGCAAAGCCAGG	0.552												
LIG4	3981	broad.mit.edu	37	13	108862651	108862651	+	Silent	SNP	A	A	G			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr13:108862651A>G	uc001vqn.2	-	2	1239	c.966T>C	c.(964-966)GAT>GAC	p.D322D	LIG4_uc001vqo.2_Silent_p.D322D|LIG4_uc010agg.1_Silent_p.D255D|LIG4_uc010agf.2_Silent_p.D322D|LIG4_uc001vqp.2_Silent_p.D322D	NM_002312	NP_002303	P49917	DNLI4_HUMAN	DNA ligase IV	322					cell cycle|cell division|cell proliferation|central nervous system development|chromosome organization|DNA ligation involved in DNA recombination|DNA ligation involved in DNA repair|DNA replication|double-strand break repair via nonhomologous end joining|in utero embryonic development|initiation of viral infection|isotype switching|negative regulation of neuron apoptosis|neuron apoptosis|nucleotide-excision repair, DNA gap filling|positive regulation of fibroblast proliferation|positive regulation of neurogenesis|pro-B cell differentiation|provirus integration|response to gamma radiation|response to X-ray|single strand break repair|somatic stem cell maintenance|T cell differentiation in thymus|T cell receptor V(D)J recombination	condensed chromosome|cytoplasm|DNA ligase IV complex|DNA-dependent protein kinase-DNA ligase 4 complex|focal adhesion|nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding|protein C-terminus binding				0	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)					AGATTTGTATATCTGCTTTGA	0.348								NHEJ				
ATP11A	23250	broad.mit.edu	37	13	113526106	113526106	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr13:113526106A>G	uc001vsi.3	+	26	3137	c.3049A>G	c.(3049-3051)ACA>GCA	p.T1017A	ATP11A_uc001vsj.3_Missense_Mutation_p.T1017A|ATP11A_uc010ago.2_RNA	NM_015205	NP_056020	P98196	AT11A_HUMAN	ATPase, class VI, type 11A isoform a	1017	Helical; (Potential).				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			large_intestine(2)|ovary(2)	4	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.134)|all_epithelial(44;0.141)				GTTCACAGTTACACTAAAGGT	0.478												
PCID2	55795	broad.mit.edu	37	13	113851504	113851504	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr13:113851504G>A	uc010tju.1	-	4	335	c.254C>T	c.(253-255)ACC>ATC	p.T85I	PCID2_uc010tjv.1_Missense_Mutation_p.T85I|PCID2_uc010tjw.1_Missense_Mutation_p.T85I|PCID2_uc001vte.2_5'UTR|PCID2_uc001vtd.2_5'UTR|PCID2_uc001vtf.2_5'UTR|PCID2_uc001vtg.1_RNA	NM_001127203	NP_001120675	Q5JVF3	PCID2_HUMAN	PCI domain containing 2	85					negative regulation of apoptosis|negative regulation of cysteine-type endopeptidase activity|positive regulation of mitotic cell cycle spindle assembly checkpoint|positive regulation of transcription, DNA-dependent|regulation of mRNA stability|spleen development		protein binding				0	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_lung(25;0.216)|all_epithelial(44;0.234)	all cancers(43;0.104)			GACTATCACGGTCTGGCACTT	0.483												
FAM70B	348013	broad.mit.edu	37	13	114507949	114507949	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr13:114507949G>A	uc001vuh.2	+	8	788	c.761G>A	c.(760-762)CGC>CAC	p.R254H		NM_182614	NP_872420	Q8WV15	FA70B_HUMAN	family with sequence similarity 70, member B	254						integral to membrane					0	Lung NSC(43;0.00976)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_lung(25;0.123)|all_epithelial(44;0.133)	all cancers(43;0.181)			GCAGGCTTCCGCCTGACGCCC	0.677												
RNASE9	390443	broad.mit.edu	37	14	21025060	21025060	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr14:21025060C>T	uc010aho.2	-	4	328	c.169G>A	c.(169-171)GCC>ACC	p.A57T	RNASE9_uc001vxq.3_Missense_Mutation_p.A62T|RNASE9_uc010ahp.2_Missense_Mutation_p.A62T|RNASE9_uc010ahq.2_Missense_Mutation_p.A62T|RNASE9_uc010ahr.2_Missense_Mutation_p.A62T|RNASE9_uc010ahs.2_Missense_Mutation_p.A57T|RNASE9_uc010aht.2_Missense_Mutation_p.A57T|RNASE9_uc010ahu.2_Missense_Mutation_p.A57T	NM_001110357	NP_001103827	P60153	RNAS9_HUMAN	ribonuclease, RNase A family, 9 (non-active)	57						extracellular region	nucleic acid binding|pancreatic ribonuclease activity			ovary(2)	2	all_cancers(95;0.00238)		Epithelial(56;3.32e-06)|all cancers(55;2.46e-05)	GBM - Glioblastoma multiforme(265;0.0141)		GGTGGTCTGGCGGGCCCTGTA	0.378												
RNASE2	6036	broad.mit.edu	37	14	21423932	21423932	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr14:21423932T>C	uc010aif.2	+	2	71	c.2T>C	c.(1-3)ATG>ACG	p.M1T	RNASE2_uc001vyl.1_Missense_Mutation_p.M1T	NM_002934	NP_002925	P10153	RNAS2_HUMAN	ribonuclease, RNase A family, 2 (liver,	1					chemotaxis|RNA catabolic process	extracellular region|lysosome	nucleic acid binding|pancreatic ribonuclease activity			ovary(1)	1	all_cancers(95;0.00381)		OV - Ovarian serous cystadenocarcinoma(11;6.3e-09)|Epithelial(56;1.42e-07)|all cancers(55;5.48e-07)	GBM - Glioblastoma multiforme(265;0.0187)		ACAGGAAACATGGTTCCAAAA	0.498												
RNF31	55072	broad.mit.edu	37	14	24619849	24619849	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr14:24619849T>C	uc001wmn.1	+	8	1489	c.1240T>C	c.(1240-1242)TAC>CAC	p.Y414H	RNF31_uc001wml.1_Missense_Mutation_p.Y263H|RNF31_uc001wmm.1_Intron|RNF31_uc010alg.1_Missense_Mutation_p.Y229H|RNF31_uc001wmo.1_5'Flank|RNF31_uc001wmp.2_5'Flank	NM_017999	NP_060469	Q96EP0	RNF31_HUMAN	ring finger protein 31	414	Polyubiquitin-binding.|RanBP2-type 3.				CD40 signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein linear polyubiquitination|T cell receptor signaling pathway	CD40 receptor complex|internal side of plasma membrane|LUBAC complex	ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding			large_intestine(1)|ovary(1)	2				GBM - Glioblastoma multiforme(265;0.00861)		TCAAGTCTGGTACTGTATTCA	0.547												
ARHGAP5	394	broad.mit.edu	37	14	32562773	32562773	+	Silent	SNP	A	A	G			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr14:32562773A>G	uc001wrl.2	+	2	3137	c.2898A>G	c.(2896-2898)CTA>CTG	p.L966L	ARHGAP5_uc001wrm.2_Silent_p.L966L|ARHGAP5_uc001wrn.2_Silent_p.L966L|ARHGAP5_uc001wro.2_Intron|ARHGAP5_uc001wrp.2_Intron	NM_001173	NP_001025226	Q13017	RHG05_HUMAN	Rho GTPase activating protein 5 isoform b	966					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)		ATGTTTTTCTACCATCTCCCA	0.353												
SNX6	58533	broad.mit.edu	37	14	35045035	35045035	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr14:35045035C>T	uc001wsf.1	-	11	892	c.884G>A	c.(883-885)CGA>CAA	p.R295Q	SNX6_uc001wse.1_Missense_Mutation_p.R167Q|SNX6_uc010tpm.1_Missense_Mutation_p.R171Q|SNX6_uc010amm.1_Missense_Mutation_p.R171Q	NM_152233	NP_689419	Q9UNH7	SNX6_HUMAN	sorting nexin 6 isoform b	283					cell communication|intracellular protein transport|negative regulation of epidermal growth factor receptor activity|negative regulation of transcription, DNA-dependent|negative regulation of transforming growth factor beta receptor signaling pathway|retrograde transport, endosome to Golgi	cytoplasmic vesicle membrane|early endosome membrane|nucleus	phosphatidylinositol binding|protein homodimerization activity				0	Breast(36;0.0473)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00199)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.0245)		AGCAGACACTCGTGCTTCTAT	0.284												
BAZ1A	11177	broad.mit.edu	37	14	35227976	35227976	+	Silent	SNP	T	T	C			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr14:35227976T>C	uc001wsk.2	-	25	4888	c.4320A>G	c.(4318-4320)CAA>CAG	p.Q1440Q	BAZ1A_uc001wsl.2_Silent_p.Q1408Q	NM_013448	NP_038476	Q9NRL2	BAZ1A_HUMAN	bromodomain adjacent to zinc finger domain, 1A	1440					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)		CTACAACAAGTTGTTCAAAAG	0.393												
MIPOL1	145282	broad.mit.edu	37	14	37754595	37754595	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr14:37754595T>C	uc001wuc.2	+	8	1069	c.566T>C	c.(565-567)ATT>ACT	p.I189T	MIPOL1_uc010amr.2_Intron|MIPOL1_uc001wub.3_Missense_Mutation_p.I158T|MIPOL1_uc001wud.2_Missense_Mutation_p.I189T|MIPOL1_uc010ams.2_Missense_Mutation_p.I189T|MIPOL1_uc001wue.2_Missense_Mutation_p.I158T|MIPOL1_uc010amt.2_Missense_Mutation_p.I8T	NM_138731	NP_620059	Q8TD10	MIPO1_HUMAN	mirror-image polydactyly 1	189	Potential.									ovary(1)|central_nervous_system(1)	2	Breast(36;0.119)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;6.03e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.047)|all cancers(34;0.0953)|LUSC - Lung squamous cell carcinoma(13;0.0975)|BRCA - Breast invasive adenocarcinoma(188;0.196)	GBM - Glioblastoma multiforme(112;0.0358)		CAATTAGCCATTGAGGAGAGA	0.378												
FANCM	57697	broad.mit.edu	37	14	45665536	45665536	+	Silent	SNP	T	T	C			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr14:45665536T>C	uc001wwd.3	+	21	5601	c.5502T>C	c.(5500-5502)ATT>ATC	p.I1834I	FANCM_uc010anf.2_Silent_p.I1808I|FANCM_uc001wwe.3_Silent_p.I1370I|FANCM_uc010ang.2_Silent_p.I1083I	NM_020937	NP_065988	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	1834	Interaction with FAAP24 and EME1.				DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding			ovary(3)|lung(2)|breast(2)	7						TAGAAGTAATTTCTTCCCTAA	0.423								Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi_Anemia			
POLE2	5427	broad.mit.edu	37	14	50131378	50131378	+	Silent	SNP	A	A	G			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr14:50131378A>G	uc001wwu.2	-	9	662	c.648T>C	c.(646-648)GGT>GGC	p.G216G	SDCCAG1_uc010anj.1_Intron|POLE2_uc010ann.2_5'UTR|POLE2_uc001wwv.2_RNA|POLE2_uc010ano.2_5'UTR	NM_002692	NP_002683	P56282	DPOE2_HUMAN	DNA-directed DNA polymerase epsilon 2	216					DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	DNA binding|DNA-directed DNA polymerase activity			ovary(1)|skin(1)	2	all_epithelial(31;0.0021)|Breast(41;0.0124)					CTGTGTATAAACCACTATGGA	0.363												
DLGAP5	9787	broad.mit.edu	37	14	55650367	55650367	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr14:55650367G>A	uc001xbs.2	-	3	560	c.343C>T	c.(343-345)CGA>TGA	p.R115*	DLGAP5_uc001xbt.2_Nonsense_Mutation_p.R115*	NM_014750	NP_055565	Q15398	DLGP5_HUMAN	discs large homolog 7 isoform a	115	Potential.				cell proliferation|cell-cell signaling|mitotic chromosome movement towards spindle pole|positive regulation of mitotic metaphase/anaphase transition	nucleus|spindle pole centrosome	phosphoprotein phosphatase activity|protein binding			ovary(1)|skin(1)	2						AATATTCCTCGTTTAGCTTTC	0.338												
C14orf101	54916	broad.mit.edu	37	14	57052589	57052589	+	Silent	SNP	T	T	C			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr14:57052589T>C	uc001xcm.2	+	3	425	c.303T>C	c.(301-303)TTT>TTC	p.F101F	C14orf101_uc001xcj.2_RNA|C14orf101_uc001xck.2_Silent_p.F101F|C14orf101_uc010aot.1_Silent_p.F101F|C14orf101_uc001xcl.1_RNA|C14orf101_uc001xcn.2_RNA|C14orf101_uc010trf.1_5'UTR	NM_017799	NP_060269	Q9NX78	CN101_HUMAN	hypothetical protein LOC54916	101	Helical; (Potential).					integral to membrane				breast(1)|central_nervous_system(1)	2				OV - Ovarian serous cystadenocarcinoma(311;0.226)		GTGGCTTATTTGGAGCAGTAG	0.393												
ACTR10	55860	broad.mit.edu	37	14	58669640	58669640	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr14:58669640C>T	uc001xdf.2	+	2	248	c.145C>T	c.(145-147)CCT>TCT	p.P49S	C14orf37_uc010tro.1_Intron|ACTR10_uc001xdg.2_5'UTR|ACTR10_uc001xdh.2_5'UTR	NM_018477	NP_060947	Q9NZ32	ARP10_HUMAN	uncharacterized hypothalamus protein HARP11	49						cytoplasm				central_nervous_system(1)	1						AGCTGGGATGCCTAAGGTATT	0.279												
TRMT5	57570	broad.mit.edu	37	14	61446155	61446156	+	Missense_Mutation	DNP	GC	GC	AT			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr14:61446155_61446156GC>AT	uc001xff.3	-	2	551_552	c.460_461GC>AT	c.(460-462)GCA>ATA	p.A154I	SLC38A6_uc001xfg.1_5'Flank|SLC38A6_uc001xfh.1_5'Flank|SLC38A6_uc001xfi.2_5'Flank|SLC38A6_uc001xfj.1_5'Flank|SLC38A6_uc001xfk.2_5'Flank|SLC38A6_uc010trz.1_5'Flank	NM_020810	NP_065861	Q32P41	TRMT5_HUMAN	tRNA methyltransferase 5	154						cytoplasm	tRNA (guanine-N1-)-methyltransferase activity			central_nervous_system(2)|large_intestine(1)	3				OV - Ovarian serous cystadenocarcinoma(108;0.0873)		ACTGAGTTCTGCTTTCTCAAAG	0.356												
TRMT5	57570	broad.mit.edu	37	14	61446523	61446523	+	Silent	SNP	A	A	G			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr14:61446523A>G	uc001xff.3	-	2	184	c.93T>C	c.(91-93)ATT>ATC	p.I31I	SLC38A6_uc001xfg.1_5'Flank|SLC38A6_uc001xfh.1_5'Flank|SLC38A6_uc001xfi.2_5'Flank|SLC38A6_uc001xfj.1_5'Flank|SLC38A6_uc001xfk.2_5'Flank|SLC38A6_uc010trz.1_5'Flank	NM_020810	NP_065861	Q32P41	TRMT5_HUMAN	tRNA methyltransferase 5	31						cytoplasm	tRNA (guanine-N1-)-methyltransferase activity			central_nervous_system(2)|large_intestine(1)	3				OV - Ovarian serous cystadenocarcinoma(108;0.0873)		AAGCTACTGGAATCAACGATT	0.368												
ZBTB1	22890	broad.mit.edu	37	14	64988914	64988914	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr14:64988914T>C	uc001xhh.3	+	4	1123	c.692T>C	c.(691-693)TTA>TCA	p.L231S	ZBTB1_uc010aqg.2_Missense_Mutation_p.L231S|ZBTB1_uc001xhi.2_Missense_Mutation_p.L231S	NM_001123329	NP_001116801	Q9Y2K1	ZBTB1_HUMAN	zinc finger and BTB domain containing 1 isoform	231	C2H2-type 1; atypical.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(1)	1		all_lung(585;0.000567)|Myeloproliferative disorder(585;0.0255)|all_neural(303;0.0294)		UCEC - Uterine corpus endometrioid carcinoma (185;0.0182)|all cancers(60;3.78e-43)|OV - Ovarian serous cystadenocarcinoma(108;1.22e-20)|BRCA - Breast invasive adenocarcinoma(234;6.75e-06)|KIRC - Kidney renal clear cell carcinoma(182;0.00269)|STAD - Stomach adenocarcinoma(64;0.012)		GAAAAATTATTAGATGAGCAT	0.373												
HSPA2	3306	broad.mit.edu	37	14	65008542	65008542	+	Silent	SNP	C	C	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr14:65008542C>T	uc001xhj.2	+	2	1051	c.975C>T	c.(973-975)CGC>CGT	p.R325R	HSPA2_uc001xhk.3_Silent_p.R325R	NM_021979	NP_068814	P54652	HSP72_HUMAN	heat shock 70kDa protein 2	325					response to unfolded protein|spermatid development	cell surface	ATP binding|unfolded protein binding			skin(1)	1				all cancers(60;0.00515)|OV - Ovarian serous cystadenocarcinoma(108;0.00584)|BRCA - Breast invasive adenocarcinoma(234;0.045)		AGGCGCTGCGCGACGCCAAGC	0.627												
GPHN	10243	broad.mit.edu	37	14	66975274	66975274	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr14:66975274A>G	uc001xiy.2	+	1	1150	c.29A>G	c.(28-30)AAC>AGC	p.N10S	GPHN_uc001xiw.2_Missense_Mutation_p.N10S|GPHN_uc001xix.2_Missense_Mutation_p.N10S|GPHN_uc010tss.1_Missense_Mutation_p.N10S|GPHN_uc010tst.1_Missense_Mutation_p.N10S|uc010tsr.1_5'Flank	NM_001024218	NP_001019389	Q9NQX3	GEPH_HUMAN	gephyrin isoform 2	10			N -> Y (in STHE; sporadic case).		Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cell junction|cytoplasm|cytoskeleton|postsynaptic membrane	ATP binding|metal ion binding|nucleotidyltransferase activity			ovary(2)	2		all_cancers(7;0.0476)|all_hematologic(31;0.0116)		Epithelial(1;1.73e-08)|all cancers(60;3.15e-07)|OV - Ovarian serous cystadenocarcinoma(108;0.000275)|BRCA - Breast invasive adenocarcinoma(234;0.00323)|Colorectal(3;0.0938)|KIRC - Kidney renal clear cell carcinoma(182;0.184)		ATCCTTACTAACCACGACCAT	0.622			T	MLL	AL							
PNMA1	9240	broad.mit.edu	37	14	74179954	74179954	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr14:74179954G>A	uc001xor.1	-	1	1175	c.389C>T	c.(388-390)CCG>CTG	p.P130L		NM_006029	NP_006020	Q8ND90	PNMA1_HUMAN	paraneoplastic antigen MA1	130					apoptosis|central nervous system development|inflammatory response to antigenic stimulus|spermatogenesis	cytoplasm|focal adhesion|nucleolus	protein binding			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(234;0.00331)|KIRC - Kidney renal clear cell carcinoma(182;0.0797)		gcccggggtcggagtagggtt	0												
DLST	1743	broad.mit.edu	37	14	75361033	75361033	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr14:75361033C>T	uc001xqv.2	+	10	754	c.691C>T	c.(691-693)CGG>TGG	p.R231W	DLST_uc001xqu.2_Missense_Mutation_p.R143W|DLST_uc001xqt.2_Missense_Mutation_p.R147W|DLST_uc010tuw.1_Missense_Mutation_p.R145W|DLST_uc001xqs.2_RNA|DLST_uc010tuv.1_Missense_Mutation_p.R231W	NM_001933	NP_001924	P36957	ODO2_HUMAN	dihydrolipoamide S-succinyltransferase (E2	231					lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|nucleus	dihydrolipoyllysine-residue succinyltransferase activity			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(234;0.00698)		GAACAGGATGCGGCAGCGCAT	0.468												
FAM164C	79696	broad.mit.edu	37	14	75537864	75537864	+	Silent	SNP	G	G	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr14:75537864G>A	uc001xri.2	+	2	761	c.588G>A	c.(586-588)ACG>ACA	p.T196T	FAM164C_uc001xrh.2_Silent_p.T196T	NM_001042430	NP_001035895	Q53FD0	F164C_HUMAN	chromosome 14 open reading frame 140 isoform b	196										ovary(1)	1						TTGCTGCCACGCAGGCGGAGA	0.542												
BATF	10538	broad.mit.edu	37	14	75991481	75991481	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr14:75991481G>A	uc001xrr.2	+	2	360	c.118G>A	c.(118-120)GCC>ACC	p.A40T		NM_006399	NP_006390	Q16520	BATF_HUMAN	basic leucine zipper transcription factor,	40	Basic motif.					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)		TCGTATTGCCGCCCAGAAGAG	0.527												
TTLL5	23093	broad.mit.edu	37	14	76368497	76368497	+	Silent	SNP	G	G	A	rs142835737	byFrequency	TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr14:76368497G>A	uc001xrx.2	+	31	3958	c.3753G>A	c.(3751-3753)GCG>GCA	p.A1251A	TTLL5_uc001xsa.2_Silent_p.A325A	NM_015072	NP_055887	Q6EMB2	TTLL5_HUMAN	tubulin tyrosine ligase-like family, member 5	1251					protein modification process|transcription, DNA-dependent	centrosome|cilium|microtubule basal body|nucleus	tubulin-tyrosine ligase activity			ovary(2)|central_nervous_system(1)	3				BRCA - Breast invasive adenocarcinoma(234;0.029)		GGTCCTCCGCGGAAGGGCAGC	0.577												
C14orf179	112752	broad.mit.edu	37	14	76549611	76549611	+	Silent	SNP	G	G	A	rs143729954		TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr14:76549611G>A	uc010asm.1	+	8	520	c.486G>A	c.(484-486)GCG>GCA	p.A162A	C14orf179_uc001xsg.2_Silent_p.A167A|C14orf179_uc010tve.1_RNA	NM_001102564	NP_001096034	Q96FT9	IFT43_HUMAN	hypothetical protein LOC112752 isoform 2	162					cilium morphogenesis|intraflagellar retrograde transport						0				BRCA - Breast invasive adenocarcinoma(234;0.0199)		AAGTGCTCGCGCCGGAGCACG	0.582												
C14orf4	64207	broad.mit.edu	37	14	77493111	77493111	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr14:77493111C>T	uc001xsy.2	-	1	1924	c.1025G>A	c.(1024-1026)CGC>CAC	p.R342H		NM_024496	NP_078772	Q9H1B7	I2BPL_HUMAN	chromosome 14 open reading frame 4	342	Potential.					nucleus					0			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.00347)|KIRC - Kidney renal clear cell carcinoma(182;0.0878)		CTTCAACTCGCGCTCCTGGTC	0.677												
NRXN3	9369	broad.mit.edu	37	14	79181267	79181267	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr14:79181267G>A	uc001xun.2	+	5	1201	c.710G>A	c.(709-711)TGC>TAC	p.C237Y	NRXN3_uc001xum.1_RNA|NRXN3_uc010asv.1_Missense_Mutation_p.C371Y	NM_004796	NP_004787	Q9Y4C0	NRX3A_HUMAN	neurexin 3 isoform 1 precursor	610	Extracellular (Potential).|Laminin G-like 3.				axon guidance|cell adhesion	integral to plasma membrane	metal ion binding|receptor activity			ovary(3)|upper_aerodigestive_tract(2)|pancreas(2)|central_nervous_system(1)|breast(1)|skin(1)	10		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		TACGTGGGCTGCATCCGCGAC	0.572												
TSHR	7253	broad.mit.edu	37	14	81422185	81422185	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr14:81422185C>T	uc001xvd.1	+	1	317	c.161C>T	c.(160-162)ACG>ATG	p.T54M	C14orf145_uc001xva.1_Intron|TSHR_uc001xvb.1_Missense_Mutation_p.T54M|TSHR_uc001xvc.2_Missense_Mutation_p.T54M|TSHR_uc010tvs.1_Missense_Mutation_p.T54M	NM_000369	NP_000360	P16473	TSHR_HUMAN	thyroid stimulating hormone receptor isoform 1	54	Extracellular (Potential).				cell-cell signaling|positive regulation of cell proliferation	integral to plasma membrane	protein binding|thyroid-stimulating hormone receptor activity			thyroid(289)|ovary(5)|lung(3)|kidney(1)|skin(1)	299				BRCA - Breast invasive adenocarcinoma(234;0.0402)	Thyrotropin Alfa(DB00024)	CCGCCCAGTACGCAGACTCTG	0.567			Mis		toxic thyroid adenoma	thyroid  adenoma	Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism 					
TSHR	7253	broad.mit.edu	37	14	81610680	81610680	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr14:81610680A>G	uc001xvd.1	+	10	2434	c.2278A>G	c.(2278-2280)ATG>GTG	p.M760V		NM_000369	NP_000360	P16473	TSHR_HUMAN	thyroid stimulating hormone receptor isoform 1	760	Cytoplasmic (Potential).				cell-cell signaling|positive regulation of cell proliferation	integral to plasma membrane	protein binding|thyroid-stimulating hormone receptor activity			thyroid(289)|ovary(5)|lung(3)|kidney(1)|skin(1)	299				BRCA - Breast invasive adenocarcinoma(234;0.0402)	Thyrotropin Alfa(DB00024)	AGAAGAGTATATGCAAACGGT	0.413			Mis		toxic thyroid adenoma	thyroid  adenoma	Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism 					
GTF2A1	2957	broad.mit.edu	37	14	81670341	81670341	+	Missense_Mutation	SNP	C	C	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr14:81670341C>A	uc001xvf.1	-	3	672	c.240G>T	c.(238-240)CAG>CAT	p.Q80H	GTF2A1_uc010atb.1_Missense_Mutation_p.Q30H|GTF2A1_uc001xvg.1_Missense_Mutation_p.Q41H|GTF2A1_uc001xvh.1_Missense_Mutation_p.Q41H|SNORA79_uc001xvi.1_5'Flank	NM_015859	NP_056943	P52655	TF2AA_HUMAN	TFIIA alpha, p55 isoform 1	80	Poly-Gln.				regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|transcription factor TFIIA complex	DNA binding|protein binding|protein heterodimerization activity|TBP-class protein binding|transcription coactivator activity			breast(1)	1				BRCA - Breast invasive adenocarcinoma(234;0.0287)		ggtggtgatgctgctgctgct	0.249												
STON2	85439	broad.mit.edu	37	14	81743536	81743536	+	Silent	SNP	G	G	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr14:81743536G>A	uc010tvu.1	-	4	2320	c.2119C>T	c.(2119-2121)CTG>TTG	p.L707L	STON2_uc001xvk.1_Silent_p.L707L|STON2_uc010tvt.1_Silent_p.L504L	NM_033104	NP_149095	Q8WXE9	STON2_HUMAN	stonin 2	707	MHD.				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)		GACATCCTCAGCCAGCTCTGC	0.557												
STON2	85439	broad.mit.edu	37	14	81837500	81837500	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr14:81837500A>G	uc010tvu.1	-	3	604	c.403T>C	c.(403-405)TGC>CGC	p.C135R	STON2_uc001xvk.1_Missense_Mutation_p.C135R	NM_033104	NP_149095	Q8WXE9	STON2_HUMAN	stonin 2	135					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)		AAGGAAGGGCATGTCCAGCAG	0.473												
CCDC88C	440193	broad.mit.edu	37	14	91770131	91770131	+	Silent	SNP	G	G	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr14:91770131G>A	uc010aty.2	-	20	3648	c.3549C>T	c.(3547-3549)GCC>GCT	p.A1183A		NM_001080414	NP_001073883	Q9P219	DAPLE_HUMAN	DVL-binding protein DAPLE	1183	Potential.				microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation|Wnt receptor signaling pathway	cytoplasm|insoluble fraction	microtubule binding|PDZ domain binding|protein self-association			ovary(3)	3		all_cancers(154;0.0468)				CCTCGTACTCGGCCGATTGCC	0.642												
CPSF2	53981	broad.mit.edu	37	14	92597333	92597333	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr14:92597333C>T	uc001yah.1	+	3	242	c.5C>T	c.(4-6)ACG>ATG	p.T2M		NM_017437	NP_059133	Q9P2I0	CPSF2_HUMAN	cleavage and polyadenylation specific factor 2	2					histone mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex	hydrolase activity|protein binding|RNA binding			ovary(2)	2		all_cancers(154;0.0766)		COAD - Colon adenocarcinoma(157;0.222)		AAAAAAATGACGTCTATTATC	0.343												
C14orf109	26175	broad.mit.edu	37	14	93652935	93652935	+	Silent	SNP	C	C	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr14:93652935C>T	uc010auo.2	+	2	787	c.429C>T	c.(427-429)TGC>TGT	p.C143C	MOAP1_uc001ybj.2_5'Flank|C14orf109_uc001ybk.3_Silent_p.C105C	NM_001098621	NP_001092091	Q8N6I4	CN109_HUMAN	hypothetical protein LOC26175 isoform 1	137						integral to membrane					0		all_cancers(154;0.11)|Acute lymphoblastic leukemia(33;0.0488)		Epithelial(152;0.176)|all cancers(159;0.197)|COAD - Colon adenocarcinoma(157;0.202)		TCCCTATATGCTTGGCAGTTA	0.403												
GSC	145258	broad.mit.edu	37	14	95235311	95235311	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr14:95235311C>T	uc001ydu.2	-	2	746	c.599G>A	c.(598-600)CGC>CAC	p.R200H		NM_173849	NP_776248	P56915	GSC_HUMAN	goosecoid	200	Homeobox.				gastrulation|middle ear morphogenesis		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0		all_cancers(154;0.0896)|all_epithelial(191;0.219)		COAD - Colon adenocarcinoma(157;0.202)|Epithelial(152;0.239)		TTTCTCCTCGCGGAGGTGCAC	0.682												
DICER1	23405	broad.mit.edu	37	14	95590985	95590985	+	Silent	SNP	G	G	A	rs142397473	byFrequency	TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr14:95590985G>A	uc001ydw.2	-	9	1106	c.924C>T	c.(922-924)GCC>GCT	p.A308A	DICER1_uc001ydv.2_Silent_p.A298A|DICER1_uc001ydx.2_Silent_p.A308A	NM_030621	NP_085124	Q9UPY3	DICER_HUMAN	dicer1	308	Required for interaction with PRKRA and TARBP2.				negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference	cytosol|RNA-induced silencing complex	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity			skin(2)|ovary(1)|pancreas(1)|lung(1)	5		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		CTACCAATACGGCACGACAGT	0.383			Mis F|N			pleuropulmonary blastoma			DICER_1_syndrome_|Familial_Multinodular_Goiter_			
ATG2B	55102	broad.mit.edu	37	14	96797967	96797967	+	Silent	SNP	T	T	C			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr14:96797967T>C	uc001yfi.2	-	11	1841	c.1476A>G	c.(1474-1476)CCA>CCG	p.P492P		NM_018036	NP_060506	Q96BY7	ATG2B_HUMAN	ATG2 autophagy related 2 homolog B	492										ovary(1)|kidney(1)|skin(1)	3		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		CAGATCTAGATGGGAGAGCTA	0.279												
BEGAIN	57596	broad.mit.edu	37	14	101005631	101005631	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr14:101005631G>A	uc010txa.1	-	6	603	c.457C>T	c.(457-459)CGC>TGC	p.R153C	BEGAIN_uc001yhp.2_Missense_Mutation_p.R89C|BEGAIN_uc001yhq.2_Missense_Mutation_p.R153C	NM_001159531	NP_001153003	Q9BUH8	BEGIN_HUMAN	brain-enriched guanylate kinase-associated	153						cytoplasm|membrane	protein binding				0		Melanoma(154;0.212)				AGGCTCACGCGCTCCTGGAAA	0.672												
RTL1	388015	broad.mit.edu	37	14	101347381	101347381	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr14:101347381G>A	uc010txj.1	-	1	3804	c.3745C>T	c.(3745-3747)CAT>TAT	p.H1249Y	MIR431_hsa-mir-431|MI0001721_RNA|MIR433_hsa-mir-433|MI0001723_5'Flank|uc001yig.3_5'Flank|MIR127_hsa-mir-127|MI0000472_5'Flank	NM_001134888	NP_001128360	A6NKG5	RTL1_HUMAN	retrotransposon-like 1	1249										pancreas(1)	1						AGGCCGTCATGCAGGCCACAC	0.632												
RTL1	388015	broad.mit.edu	37	14	101348236	101348236	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr14:101348236C>T	uc010txj.1	-	1	2949	c.2890G>A	c.(2890-2892)GTA>ATA	p.V964I	MIR433_hsa-mir-433|MI0001723_RNA|uc001yig.3_5'Flank|MIR127_hsa-mir-127|MI0000472_5'Flank|MIR432_hsa-mir-432|MI0003133_5'Flank|uc010txk.1_5'Flank|MIR136_hsa-mir-136|MI0000475_5'Flank	NM_001134888	NP_001128360	A6NKG5	RTL1_HUMAN	retrotransposon-like 1	964										pancreas(1)	1						GGGAGAAGTACGGTGAGCCTG	0.552												
MARK3	4140	broad.mit.edu	37	14	103941357	103941357	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr14:103941357C>T	uc001ymz.3	+	13	1958	c.1292C>T	c.(1291-1293)GCG>GTG	p.A431V	MARK3_uc001ymx.3_Missense_Mutation_p.A431V|MARK3_uc001ymw.3_Missense_Mutation_p.A431V|MARK3_uc001yna.3_Missense_Mutation_p.A415V|MARK3_uc001ymy.3_Missense_Mutation_p.A352V|MARK3_uc010awp.2_Missense_Mutation_p.A454V|MARK3_uc010tyb.1_Missense_Mutation_p.A226V|MARK3_uc010awq.2_5'UTR	NM_001128918	NP_001122390	P27448	MARK3_HUMAN	MAP/microtubule affinity-regulating kinase 3	431							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)			TCTGTTGTGGCGTATCCGAAA	0.398												
MARK3	4140	broad.mit.edu	37	14	103941521	103941521	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr14:103941521C>T	uc001ymz.3	+	13	2122	c.1456C>T	c.(1456-1458)CGC>TGC	p.R486C	MARK3_uc001ymx.3_Missense_Mutation_p.R486C|MARK3_uc001ymw.3_Missense_Mutation_p.R486C|MARK3_uc001yna.3_Missense_Mutation_p.R470C|MARK3_uc001ymy.3_Missense_Mutation_p.R407C|MARK3_uc010awp.2_Missense_Mutation_p.R509C|MARK3_uc010tyb.1_Missense_Mutation_p.R281C|MARK3_uc010awq.2_Missense_Mutation_p.R16C	NM_001128918	NP_001122390	P27448	MARK3_HUMAN	MAP/microtubule affinity-regulating kinase 3	486							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)			TATTCCTGAACGCAAGAAAAG	0.478												
KIF26A	26153	broad.mit.edu	37	14	104639382	104639382	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr14:104639382T>C	uc001yos.3	+	8	1489	c.1489T>C	c.(1489-1491)TCC>CCC	p.S497P		NM_015656	NP_056471	Q9ULI4	KI26A_HUMAN	kinesin family member 26A	497	Kinesin-motor.				blood coagulation|enteric nervous system development|microtubule-based movement|negative regulation of signal transduction|regulation of cell growth by extracellular stimulus	cytosol|microtubule	ATP binding|microtubule binding|microtubule motor activity			pancreas(1)	1		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767)	Epithelial(46;0.152)	Epithelial(152;0.161)		CTGCGCCATCTCCTGGCTCTT	0.687												
ADSSL1	122622	broad.mit.edu	37	14	105206963	105206963	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr14:105206963G>A	uc001ypd.2	+	6	576	c.502G>A	c.(502-504)GGA>AGA	p.G168R	INF2_uc010tyi.1_Intron|ADSSL1_uc001ype.2_Missense_Mutation_p.G211R|ADSSL1_uc001ypf.2_RNA	NM_152328	NP_689541	Q8N142	PURA1_HUMAN	adenylosuccinate synthase like 1 isoform 2	168					AMP biosynthetic process|immune system process|purine base metabolic process	cytosol	adenylosuccinate synthase activity|GTP binding|magnesium ion binding|phosphate binding			ovary(1)|central_nervous_system(1)	2		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00153)|OV - Ovarian serous cystadenocarcinoma(23;0.0148)|Epithelial(46;0.0396)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.18)	L-Aspartic Acid(DB00128)	GAAGGGAATCGGACCAACCTA	0.567												
KIAA0284	283638	broad.mit.edu	37	14	105353032	105353032	+	Missense_Mutation	SNP	G	G	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr14:105353032G>T	uc010axb.2	+	12	2680	c.2456G>T	c.(2455-2457)GGG>GTG	p.G819V	INF2_uc010tyi.1_Intron|KIAA0284_uc001ypr.2_Missense_Mutation_p.G749V|KIAA0284_uc001yps.2_Missense_Mutation_p.G725V|KIAA0284_uc001ypt.2_5'Flank	NM_001112726	NP_001106197	Q9Y4F5	K0284_HUMAN	hypothetical protein LOC283638 isoform 1	819						cytoplasm|microtubule				breast(1)	1		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000472)|OV - Ovarian serous cystadenocarcinoma(23;0.00596)|Epithelial(46;0.0149)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.178)		CCAGGGGATGGGGAGGGCCTA	0.642												
AHNAK2	113146	broad.mit.edu	37	14	105419601	105419601	+	Silent	SNP	G	G	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr14:105419601G>A	uc010axc.1	-	7	2307	c.2187C>T	c.(2185-2187)TCC>TCT	p.S729S	AHNAK2_uc001ypx.2_Silent_p.S629S	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	729						nucleus				ovary(1)	1		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CCAGGTCAGCGGAAGGGGTCT	0.652												
MKRN3	7681	broad.mit.edu	37	15	23811911	23811911	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr15:23811911C>T	uc001ywh.3	+	1	1458	c.982C>T	c.(982-984)CGC>TGC	p.R328C	MKRN3_uc001ywi.2_Intron|MKRN3_uc010ayi.1_Missense_Mutation_p.R328C	NM_005664	NP_005655	Q13064	MKRN3_HUMAN	makorin ring finger protein 3	328	RING-type.					ribonucleoprotein complex	ligase activity|nucleic acid binding|zinc ion binding			lung(6)|large_intestine(2)|ovary(2)	10		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)		CAATGACCGCCGCTTTGGCAT	0.493												
MAGEL2	54551	broad.mit.edu	37	15	23890382	23890382	+	Missense_Mutation	SNP	C	C	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr15:23890382C>A	uc001ywj.3	-	1	794	c.699G>T	c.(697-699)TGG>TGT	p.W233C		NM_019066	NP_061939			MAGE-like protein 2												0		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)		GCTGTGGGACCCATGGAACTG	0.587												
UBE3A	7337	broad.mit.edu	37	15	25601091	25601091	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr15:25601091T>C	uc001zaq.2	-	7	2081	c.2081A>G	c.(2080-2082)TAT>TGT	p.Y694C	uc001zae.2_Intron|UBE3A_uc001zar.2_Missense_Mutation_p.Y671C|UBE3A_uc001zas.2_Missense_Mutation_p.Y691C|UBE3A_uc001zat.2_Missense_Mutation_p.Y671C	NM_000462	NP_000453	Q05086	UBE3A_HUMAN	ubiquitin protein ligase E3A isoform 2	694					brain development|interspecies interaction between organisms|protein K48-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity			upper_aerodigestive_tract(1)|ovary(1)|breast(1)	3		all_cancers(20;3.47e-21)|Breast(32;0.00123)		all cancers(64;2.78e-08)|Epithelial(43;8.85e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0155)|Lung(196;0.0616)		CTTTAGATCATACATCATTGG	0.308												
ATP10A	57194	broad.mit.edu	37	15	25972394	25972394	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr15:25972394T>C	uc010ayu.2	-	4	866	c.760A>G	c.(760-762)AAG>GAG	p.K254E		NM_024490	NP_077816	O60312	AT10A_HUMAN	ATPase, class V, type 10A	254	Cytoplasmic (Potential).				ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			pancreas(2)|ovary(1)|breast(1)|liver(1)	5		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		AGCCCGGCCTTTTTCCCGTTG	0.562												
HERC2	8924	broad.mit.edu	37	15	28447365	28447365	+	Missense_Mutation	SNP	T	T	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr15:28447365T>A	uc001zbj.2	-	47	7617	c.7511A>T	c.(7510-7512)GAC>GTC	p.D2504V	HERC2_uc001zbk.1_Missense_Mutation_p.D39V	NM_004667	NP_004658	O95714	HERC2_HUMAN	hect domain and RLD 2	2504					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)		GTCGGAGTGGTCCAGCAGCCA	0.587												
HERC2	8924	broad.mit.edu	37	15	28465618	28465618	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr15:28465618G>A	uc001zbj.2	-	37	5931	c.5825C>T	c.(5824-5826)TCG>TTG	p.S1942L		NM_004667	NP_004658	O95714	HERC2_HUMAN	hect domain and RLD 2	1942					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)		CTCTGTGTCCGAATCCTCTGC	0.577												
RYR3	6263	broad.mit.edu	37	15	34150026	34150026	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr15:34150026A>G	uc001zhi.2	+	99	14123	c.14053A>G	c.(14053-14055)ACT>GCT	p.T4685A	RYR3_uc010bar.2_Missense_Mutation_p.T4680A	NM_001036	NP_001027	Q15413	RYR3_HUMAN	ryanodine receptor 3	4685	Helical; Name=M8; (Potential).				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)		TTATCTCTATACTGTGGTGGC	0.498												
ZNF770	54989	broad.mit.edu	37	15	35273809	35273809	+	Silent	SNP	A	A	G			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr15:35273809A>G	uc001ziw.2	-	3	2138	c.1827T>C	c.(1825-1827)CCT>CCC	p.P609P		NM_014106	NP_054825	Q6IQ21	ZN770_HUMAN	zinc finger protein 770	609					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Lung NSC(122;4.59e-10)|all_lung(180;8.78e-09)		all cancers(64;1.97e-18)|GBM - Glioblastoma multiforme(113;2.11e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0643)		AACTGCAAAAAGGATTGCTTT	0.423												
EIF2AK4	440275	broad.mit.edu	37	15	40301865	40301865	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr15:40301865A>G	uc001zkm.1	+	26	3677	c.3627A>G	c.(3625-3627)ATA>ATG	p.I1209M	EIF2AK4_uc010bbj.1_Missense_Mutation_p.I910M|EIF2AK4_uc001zkn.1_Missense_Mutation_p.I309M|EIF2AK4_uc001zko.1_Missense_Mutation_p.I147M|EIF2AK4_uc010bbk.1_RNA	NM_001013703	NP_001013725	Q9P2K8	E2AK4_HUMAN	eukaryotic translation initiation factor 2 alpha	1209	Histidyl-tRNA synthetase-like.				translation	cytosolic ribosome	aminoacyl-tRNA ligase activity|ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|protein homodimerization activity			lung(2)|stomach(1)|skin(1)	4		all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616)		TGAAAGCAATACTCTTACACT	0.308												
GANC	2595	broad.mit.edu	37	15	42632010	42632010	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr15:42632010A>G	uc001zpi.2	+	17	2301	c.1987A>G	c.(1987-1989)ACC>GCC	p.T663A		NM_198141	NP_937784	Q8TET4	GANC_HUMAN	glucosidase, alpha; neutral C	663					carbohydrate metabolic process		carbohydrate binding|maltose alpha-glucosidase activity			central_nervous_system(2)	2		all_cancers(109;3.08e-16)|all_epithelial(112;7.48e-15)|Lung NSC(122;3.08e-09)|all_lung(180;1.48e-08)|Melanoma(134;0.0574)|Colorectal(260;0.153)		GBM - Glioblastoma multiforme(94;1.06e-06)		GGAGGAACACACCCGACTCAT	0.572												
DUOXA1	90527	broad.mit.edu	37	15	45410170	45410170	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr15:45410170C>T	uc001zup.2	-	10	1489	c.1089G>A	c.(1087-1089)TGG>TGA	p.W363*	DUOXA2_uc001zuo.2_3'UTR|DUOXA2_uc010beb.2_RNA|DUOXA1_uc010uem.1_Nonsense_Mutation_p.W318*|DUOXA1_uc010bec.2_Nonsense_Mutation_p.W363*	NM_144565	NP_653166	Q1HG43	DOXA1_HUMAN	Numb-interacting protein	Error:Variant_position_missing_in_Q1HG43_after_alignment					protein transport	endoplasmic reticulum membrane|integral to membrane				ovary(1)	1		all_cancers(109;6.02e-08)|all_epithelial(112;1.83e-06)|Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)		all cancers(107;3.82e-18)|GBM - Glioblastoma multiforme(94;4.39e-07)|COAD - Colon adenocarcinoma(120;0.0676)|Colorectal(133;0.0686)		GCAGTGCCCGCCAGGCCTGGG	0.642											OREG0023102	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
SECISBP2L	9728	broad.mit.edu	37	15	49293144	49293144	+	Silent	SNP	G	G	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr15:49293144G>T	uc001zxe.1	-	15	2312	c.2178C>A	c.(2176-2178)ACC>ACA	p.T726T	SECISBP2L_uc001zxd.1_Silent_p.T681T|SECISBP2L_uc010bep.1_Silent_p.T488T	NM_014701	NP_055516	Q93073	SBP2L_HUMAN	SECIS binding protein 2-like	726										breast(1)|skin(1)	2						TCATATGTTTGGTAACTTCTC	0.378												
GLDN	342035	broad.mit.edu	37	15	51693862	51693862	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr15:51693862A>G	uc002aba.2	+	9	1269	c.1100A>G	c.(1099-1101)TAC>TGC	p.Y367C	GLDN_uc002abb.2_Missense_Mutation_p.Y243C	NM_181789	NP_861454	Q6ZMI3	GLDN_HUMAN	gliomedin	367	Extracellular (Potential).|Olfactomedin-like.				cell differentiation|nervous system development	collagen|integral to membrane|plasma membrane				ovary(2)	2				all cancers(107;0.00194)|GBM - Glioblastoma multiforme(94;0.00942)		CACCTTCCATACTATTTCCAT	0.493											OREG0023125	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
MYO5A	4644	broad.mit.edu	37	15	52689455	52689455	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr15:52689455T>C	uc002aby.2	-	10	1506	c.1262A>G	c.(1261-1263)CAG>CGG	p.Q421R	MYO5A_uc002abx.3_Missense_Mutation_p.Q421R|MYO5A_uc010uge.1_Missense_Mutation_p.Q290R	NM_000259	NP_000250	Q9Y4I1	MYO5A_HUMAN	myosin VA isoform 1	421	Myosin head-like.				actin filament-based movement|transport	cytoplasm|growth cone|myosin complex|ruffle	actin binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(3)|central_nervous_system(1)	4				all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)		ATGGAGAGCCTGATTGACATT	0.448												
NEDD4	4734	broad.mit.edu	37	15	56132872	56132872	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr15:56132872T>C	uc002adj.2	-	16	3449	c.3149A>G	c.(3148-3150)CAC>CGC	p.H1050R	NEDD4_uc002adl.2_Missense_Mutation_p.H631R|NEDD4_uc002adi.2_Missense_Mutation_p.H978R|NEDD4_uc010ugj.1_Missense_Mutation_p.H1034R|NEDD4_uc010bfm.2_Missense_Mutation_p.H1033R|NEDD4_uc002adk.2_RNA	NM_198400	NP_006145	P46934	NEDD4_HUMAN	neural precursor cell expressed, developmentally	1050	HECT.				development involved in symbiotic interaction|glucocorticoid receptor signaling pathway|negative regulation of sodium ion transport|negative regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage|negative regulation of vascular endothelial growth factor receptor signaling pathway|neuron projection development|positive regulation of nucleocytoplasmic transport|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein catabolic process|progesterone receptor signaling pathway|protein K63-linked ubiquitination|protein targeting to lysosome|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|receptor internalization|regulation of dendrite morphogenesis|response to calcium ion|transmission of virus	apicolateral plasma membrane|cell cortex|chromatin|cytosol|perinuclear region of cytoplasm|ubiquitin ligase complex	beta-2 adrenergic receptor binding|phosphoserine binding|phosphothreonine binding|proline-rich region binding|protein domain specific binding|RNA polymerase binding|sodium channel inhibitor activity|ubiquitin binding|ubiquitin-protein ligase activity			skin(2)|ovary(1)|breast(1)	4				all cancers(107;0.0299)|GBM - Glioblastoma multiforme(80;0.113)		GTAAGAGAGGTGATCTTCGTT	0.333												
ADAM10	102	broad.mit.edu	37	15	58925422	58925422	+	Silent	SNP	G	G	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr15:58925422G>A	uc002afd.1	-	9	1593	c.1149C>T	c.(1147-1149)CAC>CAT	p.H383H	ADAM10_uc010bgc.1_RNA|ADAM10_uc010ugz.1_Silent_p.H82H|ADAM10_uc002afe.1_Intron	NM_001110	NP_001101	O14672	ADA10_HUMAN	ADAM metallopeptidase domain 10 precursor	383	Peptidase M12B.|Extracellular (Potential).	Zinc; catalytic.			cell-cell signaling|constitutive protein ectodomain proteolysis|epidermal growth factor receptor signaling pathway|in utero embryonic development|integrin-mediated signaling pathway|monocyte activation|negative regulation of cell adhesion|Notch receptor processing|Notch signaling pathway|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of T cell chemotaxis|protein phosphorylation|response to tumor necrosis factor	cell surface|endomembrane system|Golgi-associated vesicle|integral to membrane|nucleus|plasma membrane	integrin binding|metalloendopeptidase activity|protein homodimerization activity|protein kinase binding|SH3 domain binding|zinc ion binding			skin(2)	2				GBM - Glioblastoma multiforme(80;0.202)		GTCCAACTTCGTGAGCAAAAG	0.318												
DIS3L	115752	broad.mit.edu	37	15	66615118	66615118	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr15:66615118G>A	uc010ujm.1	+	10	1435	c.1420G>A	c.(1420-1422)GTA>ATA	p.V474I	DIS3L_uc010ujl.1_Missense_Mutation_p.V104I|DIS3L_uc002app.2_Missense_Mutation_p.V391I|DIS3L_uc002apq.2_Missense_Mutation_p.V474I|DIS3L_uc010bho.2_Missense_Mutation_p.V340I	NM_001143688	NP_001137160	Q8TF46	DI3L1_HUMAN	DIS3 mitotic control homolog (S.	474					rRNA catabolic process	cytoplasm|exosome (RNase complex)	exonuclease activity|protein binding|ribonuclease activity|RNA binding			ovary(2)	2						AAGCCATCTCGTATTCAGCAT	0.458												
CORO2B	10391	broad.mit.edu	37	15	69011084	69011084	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr15:69011084C>T	uc002arj.3	+	9	1044	c.1015C>T	c.(1015-1017)CGC>TGC	p.R339C	CORO2B_uc010bic.2_Missense_Mutation_p.R334C|CORO2B_uc002ark.2_Missense_Mutation_p.R106C	NM_006091	NP_006082	Q9UQ03	COR2B_HUMAN	coronin, actin binding protein, 2B	339					actin cytoskeleton organization	actin cytoskeleton|cytoplasm|membrane	actin filament binding			ovary(3)|skin(2)|large_intestine(1)	6						CGAGGTGTTCCGCTTCTACAA	0.627												
MYO9A	4649	broad.mit.edu	37	15	72172765	72172765	+	Missense_Mutation	SNP	A	A	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr15:72172765A>T	uc002atl.3	-	29	6006	c.5533T>A	c.(5533-5535)TTG>ATG	p.L1845M	MYO9A_uc002atk.2_Missense_Mutation_p.L640M|MYO9A_uc002atm.1_Missense_Mutation_p.L641M	NM_006901	NP_008832	B2RTY4	MYO9A_HUMAN	myosin IXA	1845	Tail.				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						ATAGAATCCAAAGCCACGTTG	0.428												
CELF6	60677	broad.mit.edu	37	15	72580753	72580753	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr15:72580753T>C	uc002auh.2	-	11	1524	c.1214A>G	c.(1213-1215)CAG>CGG	p.Q405R	uc002aug.2_Intron|CELF6_uc002auk.3_RNA|CELF6_uc010biv.1_RNA|CELF6_uc010biw.2_Missense_Mutation_p.Q292R|CELF6_uc010ukl.1_Missense_Mutation_p.Q268R|CELF6_uc010ukm.1_Missense_Mutation_p.Q378R|CELF6_uc002aui.2_Missense_Mutation_p.Q511R|CELF6_uc002auj.2_Missense_Mutation_p.Q292R	NM_052840	NP_443072	Q96J87	CELF6_HUMAN	bruno-like 6, RNA binding protein	405	RRM 3.				mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome	cytoplasm|nucleus	nucleotide binding|RNA binding			large_intestine(1)|central_nervous_system(1)|skin(1)	3						ACCAAACTCCTGAGGCAGGTG	0.547												
C15orf59	388135	broad.mit.edu	37	15	74032759	74032759	+	Silent	SNP	A	A	G			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr15:74032759A>G	uc002avy.2	-	2	726	c.381T>C	c.(379-381)GGT>GGC	p.G127G		NM_001039614	NP_001034703	Q2T9L4	CO059_HUMAN	hypothetical protein LOC388135	127										pancreas(1)	1						TCGACTCGGGACCATCCACGG	0.632												
CCDC33	80125	broad.mit.edu	37	15	74573063	74573063	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr15:74573063C>T	uc002axo.2	+	9	1338	c.944C>T	c.(943-945)CCG>CTG	p.P315L	CCDC33_uc002axp.2_Missense_Mutation_p.P137L	NM_025055	NP_079331	Q8N5R6	CCD33_HUMAN	coiled-coil domain containing 33 isoform 1	518							protein binding			ovary(3)|skin(2)	5						TCTGTGTTGCCGCTAAAGAGC	0.612												
TMED3	23423	broad.mit.edu	37	15	79606185	79606185	+	Silent	SNP	C	C	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr15:79606185C>T	uc002beu.2	+	2	356	c.255C>T	c.(253-255)TAC>TAT	p.Y85Y	TMED3_uc010unj.1_Silent_p.Y85Y|TMED3_uc002bev.2_RNA	NM_007364	NP_031390	Q9Y3Q3	TMED3_HUMAN	transmembrane emp24 domain containing 3	85	Lumenal (Potential).|GOLD.				protein transport	ER-Golgi intermediate compartment membrane|Golgi apparatus|integral to membrane				ovary(1)|skin(1)	2						AGAAGCAGTACGACAGCTTCA	0.483												
MEX3B	84206	broad.mit.edu	37	15	82336563	82336563	+	Silent	SNP	G	G	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr15:82336563G>A	uc002bgq.1	-	2	963	c.648C>T	c.(646-648)CGC>CGT	p.R216R		NM_032246	NP_115622	Q6ZN04	MEX3B_HUMAN	mex-3 homolog B	216	KH 2.				protein autophosphorylation	cytoplasmic mRNA processing body|nucleus	calcium ion binding|RNA binding|zinc ion binding			breast(1)|kidney(1)	2						CCTCTCGAGCGCGATCCACGT	0.612												
AP3B2	8120	broad.mit.edu	37	15	83349406	83349406	+	Silent	SNP	G	G	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr15:83349406G>A	uc010uoh.1	-	8	1050	c.873C>T	c.(871-873)CCC>CCT	p.P291P	AP3B2_uc010uoi.1_Silent_p.P291P|AP3B2_uc010uoj.1_Silent_p.P259P|AP3B2_uc010uog.1_5'Flank	NM_004644	NP_004635	Q13367	AP3B2_HUMAN	adaptor-related protein complex 3, beta 2	291					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport	clathrin coated vesicle membrane|COPI-coated vesicle|membrane coat	binding|protein transporter activity			ovary(3)|breast(1)|pancreas(1)	5			BRCA - Breast invasive adenocarcinoma(143;0.229)			GCTTTCGGGAGGGGGCGGCCG	0.677												
ADAMTSL3	57188	broad.mit.edu	37	15	84488696	84488696	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr15:84488696A>G	uc002bjz.3	+	6	721	c.497A>G	c.(496-498)CAT>CGT	p.H166R	ADAMTSL3_uc002bjy.1_Missense_Mutation_p.H166R|ADAMTSL3_uc010bmt.1_Missense_Mutation_p.H166R|ADAMTSL3_uc010bmu.1_Missense_Mutation_p.H166R	NM_207517	NP_997400	P82987	ATL3_HUMAN	ADAMTS-like 3 precursor	166						proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			ovary(6)|central_nervous_system(5)|lung(5)|large_intestine(4)|breast(3)|skin(2)|kidney(1)|pancreas(1)	27			BRCA - Breast invasive adenocarcinoma(143;0.211)			CTCAAGTGTCATGCACAAGGA	0.502												
AEN	64782	broad.mit.edu	37	15	89169602	89169602	+	Silent	SNP	C	C	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr15:89169602C>T	uc002bmt.2	+	2	313	c.162C>T	c.(160-162)AGC>AGT	p.S54S	AEN_uc010bnl.2_Silent_p.S54S|AEN_uc010bnm.1_Silent_p.S54S	NM_022767	NP_073604	Q8WTP8	AEN_HUMAN	interferon stimulated exonuclease gene	54					apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|response to ionizing radiation	nucleolus|nucleoplasm	exonuclease activity|nucleic acid binding				0						GGCTGCTGAGCATGCCTCCAG	0.627												
ABHD2	11057	broad.mit.edu	37	15	89719194	89719194	+	Silent	SNP	C	C	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr15:89719194C>T	uc002bnj.2	+	11	1607	c.690C>T	c.(688-690)TGC>TGT	p.C230C	ABHD2_uc002bnk.2_Silent_p.C230C	NM_007011	NP_008942	P08910	ABHD2_HUMAN	alpha/beta hydrolase domain containing protein	230						integral to membrane	carboxylesterase activity			ovary(1)|lung(1)	2	Lung NSC(78;0.0472)|all_lung(78;0.089)					TCCTGTGCTGCGTCAGCGTGT	0.567												
C15orf42	90381	broad.mit.edu	37	15	90170282	90170282	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr15:90170282A>G	uc002boe.2	+	22	5698	c.5698A>G	c.(5698-5700)AAG>GAG	p.K1900E	C15orf42_uc010upv.1_RNA	NM_152259	NP_689472	Q7Z2Z1	TICRR_HUMAN	leucine-rich repeat kinase 1	1900					cell cycle|DNA repair|DNA replication|formation of translation preinitiation complex|G2/M transition checkpoint|mitotic cell cycle DNA replication checkpoint|regulation of DNA-dependent DNA replication initiation|response to ionizing radiation	nucleus	chromatin binding|protein binding			ovary(4)|central_nervous_system(2)|skin(1)	7	Lung NSC(78;0.0237)|all_lung(78;0.0478)		BRCA - Breast invasive adenocarcinoma(143;0.128)			TTATACACGGAAGAAGCTCAT	0.498												
AP3S2	10239	broad.mit.edu	37	15	90446505	90446505	+	Silent	SNP	C	C	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr15:90446505C>T	uc002bos.3	-	5	770	c.615G>A	c.(613-615)TCG>TCA	p.S205S	C15orf38_uc002bot.1_RNA|C15orf38_uc002bou.2_Silent_p.S205S	NM_182616	NP_872422	P59780	AP3S2_HUMAN	hypothetical protein LOC348110	Error:Variant_position_missing_in_P59780_after_alignment					intracellular protein transport|vesicle-mediated transport	cytoplasmic vesicle membrane|Golgi apparatus|membrane coat	protein transporter activity				0	Lung NSC(78;0.0181)|all_lung(78;0.0384)		BRCA - Breast invasive adenocarcinoma(143;0.0107)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.223)			CAGCCCCCTTCGAACACTTTT	0.562												
TTLL13	440307	broad.mit.edu	37	15	90794020	90794020	+	Missense_Mutation	SNP	C	C	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr15:90794020C>A	uc002bpd.1	+	2	446	c.158C>A	c.(157-159)CCC>CAC	p.P53H	TTLL13_uc002bpe.1_RNA	NM_001029964	NP_001025135	A6NNM8	TTL13_HUMAN	tubulin tyrosine ligase-like family, member 13	53					protein modification process		ATP binding|tubulin-tyrosine ligase activity				0	Melanoma(11;0.00551)|Lung NSC(78;0.0178)|all_lung(78;0.0378)		KIRC - Kidney renal clear cell carcinoma(17;0.0286)|BRCA - Breast invasive adenocarcinoma(143;0.0323)|Kidney(142;0.0514)			AATGGGGTTCCCTCACCCATT	0.473												
ZNF774	342132	broad.mit.edu	37	15	90903582	90903582	+	Silent	SNP	C	C	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr15:90903582C>T	uc002bpk.3	+	4	705	c.519C>T	c.(517-519)CAC>CAT	p.H173H		NM_001004309	NP_001004309	Q6NX45	ZN774_HUMAN	zinc finger protein 774	173	C2H2-type 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	Melanoma(11;0.00551)|Lung NSC(78;0.0158)|all_lung(78;0.0331)		BRCA - Breast invasive adenocarcinoma(143;0.0224)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			TAAGAACCCACACTGGCGAGA	0.498												
ADAMTS17	170691	broad.mit.edu	37	15	100739577	100739577	+	Missense_Mutation	SNP	G	G	C			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr15:100739577G>C	uc002bvv.1	-	8	1206	c.1127C>G	c.(1126-1128)GCC>GGC	p.A376G	ADAMTS17_uc002bvx.1_Missense_Mutation_p.A133G	NM_139057	NP_620688	Q8TE56	ATS17_HUMAN	ADAM metallopeptidase with thrombospondin type 1	376	Peptidase M12B.				proteolysis	intracellular|proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(2)|central_nervous_system(1)	3	Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571)		OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)	COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219)		ATTGTCTTCGGCAAGCACACA	0.488												
ADAMTS17	170691	broad.mit.edu	37	15	100801716	100801716	+	Silent	SNP	C	C	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr15:100801716C>T	uc002bvv.1	-	6	1078	c.999G>A	c.(997-999)CCG>CCA	p.P333P	ADAMTS17_uc002bvx.1_Silent_p.P90P	NM_139057	NP_620688	Q8TE56	ATS17_HUMAN	ADAM metallopeptidase with thrombospondin type 1	333	Peptidase M12B.				proteolysis	intracellular|proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(2)|central_nervous_system(1)	3	Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571)		OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)	COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219)		CCACCAGGGGCGGGTCGTCCT	0.562												
TARSL2	123283	broad.mit.edu	37	15	102241308	102241308	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr15:102241308G>A	uc002bxm.2	-	10	1356	c.1301C>T	c.(1300-1302)ACG>ATG	p.T434M	TARSL2_uc002bxl.2_Translation_Start_Site|TARSL2_uc010usi.1_RNA	NM_152334	NP_689547	A2RTX5	SYTC2_HUMAN	threonyl-tRNA synthetase-like 2	434					threonyl-tRNA aminoacylation	cytoplasm	ATP binding|threonine-tRNA ligase activity			ovary(2)	2	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000268)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			ATCTGTAAGCGTATTATAAAT	0.308												
TARSL2	123283	broad.mit.edu	37	15	102263369	102263369	+	Splice_Site	SNP	T	T	C			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr15:102263369T>C	uc002bxm.2	-	2	353	c.298_splice	c.e2-1	p.P100_splice	TARSL2_uc010usi.1_Splice_Site	NM_152334	NP_689547	A2RTX5	SYTC2_HUMAN	threonyl-tRNA synthetase-like 2						threonyl-tRNA aminoacylation	cytoplasm	ATP binding|threonine-tRNA ligase activity			ovary(2)	2	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000268)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			AGGAGGAGGCTGAAAGATAAA	0.418												
LUC7L	55692	broad.mit.edu	37	16	277242	277242	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr16:277242G>A	uc002cgc.1	-	2	266	c.155C>T	c.(154-156)ACG>ATG	p.T52M	LUC7L_uc002cga.1_Missense_Mutation_p.T52M|LUC7L_uc002cgd.1_RNA|LUC7L_uc002cge.1_Missense_Mutation_p.T52M|LUC7L_uc010bqq.1_3'UTR	NM_201412	NP_958815	Q9NQ29	LUC7L_HUMAN	LUC7-like isoform b	52							metal ion binding			central_nervous_system(1)	1		all_cancers(16;1.1e-06)|all_epithelial(16;2.71e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.0138)|all_lung(18;0.0306)				TGCACCTACCGTCCCAGCCAG	0.478												
RAB40C	57799	broad.mit.edu	37	16	676026	676026	+	Missense_Mutation	SNP	C	C	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr16:676026C>A	uc002chr.2	+	5	586	c.470C>A	c.(469-471)CCC>CAC	p.P157H	RAB40C_uc002chq.2_Missense_Mutation_p.P138H	NM_021168	NP_066991	Q96S21	RB40C_HUMAN	RAB40C, member RAS oncogene family	157					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding				0		Hepatocellular(780;0.0218)				GAGGTCAGCCCCCTGTGCAAC	0.617												
UBE2I	7329	broad.mit.edu	37	16	1374749	1374749	+	Silent	SNP	C	C	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr16:1374749C>T	uc002clc.1	+	7	536	c.432C>T	c.(430-432)TAC>TAT	p.Y144Y	UBE2I_uc002cld.1_Silent_p.Y144Y|UBE2I_uc002clf.1_Silent_p.Y144Y|UBE2I_uc002clg.1_Silent_p.Y144Y	NM_194261	NP_919237	P63279	UBC9_HUMAN	ubiquitin-conjugating enzyme E2I	144					cell division|chromosome segregation|interspecies interaction between organisms|mitosis|negative regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|protein sumoylation	cytoplasm|PML body|synaptonemal complex	ATP binding|enzyme binding|ubiquitin-protein ligase activity			breast(1)|skin(1)	2		Hepatocellular(780;0.00369)				GAGTGGAGTACGAGAAAAGGG	0.552												
HS3ST6	64711	broad.mit.edu	37	16	1961936	1961936	+	Silent	SNP	G	G	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr16:1961936G>A	uc002cnf.2	-	2	591	c.591C>T	c.(589-591)TAC>TAT	p.Y197Y		NM_001009606	NP_001009606	C9JH64	C9JH64_HUMAN	heparan sulfate (glucosamine)	197											0						GGTGCTGGGCGTACAGGCCGA	0.721												
TBL3	10607	broad.mit.edu	37	16	2026277	2026277	+	Silent	SNP	C	C	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr16:2026277C>T	uc002cnu.1	+	13	1356	c.1254C>T	c.(1252-1254)TCC>TCT	p.S418S	TBL3_uc002cnv.1_Silent_p.S304S|TBL3_uc010bsb.1_Silent_p.S207S|TBL3_uc010bsc.1_Intron|TBL3_uc010uvt.1_5'UTR|TBL3_uc002cnw.1_5'Flank	NM_006453	NP_006444	Q12788	TBL3_HUMAN	transducin beta-like 3	418					G-protein signaling, coupled to cGMP nucleotide second messenger|rRNA processing	nucleolus|small-subunit processome	receptor signaling protein activity				0						CTCAGGGTTCCGGTCACACAC	0.637												
TSC2	7249	broad.mit.edu	37	16	2131669	2131669	+	Silent	SNP	G	G	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr16:2131669G>A	uc002con.2	+	31	3790	c.3684G>A	c.(3682-3684)CTG>CTA	p.L1228L	TSC2_uc010bsd.2_Silent_p.L1228L|TSC2_uc002coo.2_Silent_p.L1184L|TSC2_uc010uvv.1_Silent_p.L1148L|TSC2_uc010uvw.1_Silent_p.L1136L|TSC2_uc002cop.2_Silent_p.L984L|TSC2_uc002coq.2_5'Flank|TSC2_uc002cor.2_5'Flank	NM_000548	NP_000539	P49815	TSC2_HUMAN	tuberous sclerosis 2 isoform 1	1228					cell cycle arrest|endocytosis|heart development|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|negative regulation of cell size|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of protein kinase B signaling cascade|negative regulation of TOR signaling cascade|negative regulation of Wnt receptor signaling pathway|nerve growth factor receptor signaling pathway|neural tube closure|phosphatidylinositol-mediated signaling|positive chemotaxis|protein import into nucleus|protein kinase B signaling cascade|regulation of endocytosis|regulation of insulin receptor signaling pathway|regulation of small GTPase mediated signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm|TSC1-TSC2 complex	GTPase activator activity|protein homodimerization activity			central_nervous_system(4)|lung(3)|ovary(2)|pancreas(1)	10		Hepatocellular(780;0.0202)				ACATGCCCCTGCAGGAGCTGT	0.637			D|Mis|N|F|S			hamartoma|renal cell			Tuberous_Sclerosis			
TSC2	7249	broad.mit.edu	37	16	2136307	2136307	+	Silent	SNP	G	G	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr16:2136307G>A	uc002con.2	+	37	4882	c.4776G>A	c.(4774-4776)GTG>GTA	p.V1592V	TSC2_uc010bsd.2_Silent_p.V1569V|TSC2_uc002coo.2_Silent_p.V1525V|TSC2_uc010uvv.1_Silent_p.V1489V|TSC2_uc010uvw.1_Silent_p.V1477V|TSC2_uc002cop.2_Silent_p.V1348V|TSC2_uc002coq.2_Silent_p.V367V|TSC2_uc002cor.2_Silent_p.V293V	NM_000548	NP_000539	P49815	TSC2_HUMAN	tuberous sclerosis 2 isoform 1	1592	Rap-GAP.				cell cycle arrest|endocytosis|heart development|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|negative regulation of cell size|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of protein kinase B signaling cascade|negative regulation of TOR signaling cascade|negative regulation of Wnt receptor signaling pathway|nerve growth factor receptor signaling pathway|neural tube closure|phosphatidylinositol-mediated signaling|positive chemotaxis|protein import into nucleus|protein kinase B signaling cascade|regulation of endocytosis|regulation of insulin receptor signaling pathway|regulation of small GTPase mediated signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm|TSC1-TSC2 complex	GTPase activator activity|protein homodimerization activity			central_nervous_system(4)|lung(3)|ovary(2)|pancreas(1)	10		Hepatocellular(780;0.0202)				CGGACAAGGTGTACCTGGGAG	0.627			D|Mis|N|F|S			hamartoma|renal cell			Tuberous_Sclerosis			
PDPK1	5170	broad.mit.edu	37	16	2636711	2636711	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr16:2636711A>G	uc002cqs.2	+	11	1304	c.1160A>G	c.(1159-1161)CAG>CGG	p.Q387R	PDPK1_uc002cqt.2_Missense_Mutation_p.Q260R|PDPK1_uc010bsn.2_Missense_Mutation_p.Q387R|PDPK1_uc002cqu.2_Missense_Mutation_p.Q360R	NM_002613	NP_002604	O15530	PDPK1_HUMAN	3-phosphoinositide dependent protein kinase-1	387					actin cytoskeleton organization|activation of protein kinase B activity|insulin receptor signaling pathway|negative regulation of protein kinase activity|nerve growth factor receptor signaling pathway|peptidyl-threonine phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|synaptic transmission|T cell costimulation|T cell receptor signaling pathway	cytosol|nucleoplasm|plasma membrane	3-phosphoinositide-dependent protein kinase activity|ATP binding			central_nervous_system(2)|ovary(1)	3		Ovarian(90;0.17)			Celecoxib(DB00482)	GGCTGCATGCAGGTGTCTTCG	0.557												
PRSS22	64063	broad.mit.edu	37	16	2906205	2906205	+	Silent	SNP	G	G	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr16:2906205G>A	uc002cry.1	-	3	225	c.159C>T	c.(157-159)GGC>GGT	p.G53G	PRSS22_uc002crz.1_Silent_p.G53G	NM_022119	NP_071402	Q9GZN4	BSSP4_HUMAN	protease, serine, 22 precursor	53	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			central_nervous_system(1)	1						TGCTGTCCTCGCCGCCCACAA	0.572												
ZNF205	7755	broad.mit.edu	37	16	3169648	3169648	+	Silent	SNP	G	G	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr16:3169648G>A	uc002cub.2	+	7	1122	c.987G>A	c.(985-987)ACG>ACA	p.T329T	ZNF205_uc002cua.2_Silent_p.T329T	NM_001042428	NP_001035893	O95201	ZN205_HUMAN	zinc finger protein 205	329	C2H2-type 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding				0						ACCGGCGCACGCACACGGGCG	0.677												
ZNF213	7760	broad.mit.edu	37	16	3191136	3191136	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr16:3191136G>A	uc010uws.1	+	6	1615	c.1168G>A	c.(1168-1170)GAC>AAC	p.D390N	ZNF213_uc002cud.2_RNA|ZNF213_uc010btf.2_3'UTR|ZNF213_uc010bth.2_Missense_Mutation_p.D390N|ZNF213_uc010uwt.1_3'UTR	NM_004220	NP_004211	O14771	ZN213_HUMAN	zinc finger protein 213	390	C2H2-type 3.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0						CTACCTGGCCGACCACCAGCG	0.662												
MEFV	4210	broad.mit.edu	37	16	3293377	3293377	+	Missense_Mutation	SNP	C	C	T	rs104895096		TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr16:3293377C>T	uc002cun.1	-	10	2150	c.2110G>A	c.(2110-2112)GTT>ATT	p.V704I		NM_000243	NP_000234	O15553	MEFV_HUMAN	Mediterranean fever protein	704	B30.2/SPRY.		V -> I (in arFMF).		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)	GTCGGGGGAACGCTGGACGCC	0.517												
MEFV	4210	broad.mit.edu	37	16	3304678	3304678	+	Silent	SNP	G	G	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr16:3304678G>A	uc002cun.1	-	2	430	c.390C>T	c.(388-390)AAC>AAT	p.N130N		NM_000243	NP_000234	O15553	MEFV_HUMAN	Mediterranean fever protein	130					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)	GCCGAGGGCCGTTCCCCTCGT	0.677												
ZNF434	54925	broad.mit.edu	37	16	3434756	3434756	+	Missense_Mutation	SNP	G	G	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr16:3434756G>T	uc002cuz.2	-	5	1103	c.301C>A	c.(301-303)CTA>ATA	p.L101I	ZNF434_uc002cux.3_Missense_Mutation_p.L312I|ZNF434_uc010uwx.1_Missense_Mutation_p.L24I|ZNF434_uc002cuy.3_Missense_Mutation_p.L24I|ZNF434_uc010uwy.1_Missense_Mutation_p.L24I|ZNF434_uc010uwz.1_Missense_Mutation_p.L312I|ZNF434_uc010uxa.1_Missense_Mutation_p.L101I	NM_017810	NP_060280	Q9NX65	ZN434_HUMAN	zinc finger protein 434	101					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2						CTCAACTGTAGGCTTTTGAAC	0.542												
BTBD12	84464	broad.mit.edu	37	16	3641099	3641099	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr16:3641099T>C	uc002cvp.2	-	12	3167	c.2540A>G	c.(2539-2541)AAT>AGT	p.N847S		NM_032444	NP_115820	Q8IY92	SLX4_HUMAN	BTB (POZ) domain containing 12	847	Potential.|Interaction with PLK1 and TERF2-TERF2IP.|Glu-rich.				DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair	Slx1-Slx4 complex	enzyme activator activity|protein binding				0						TTCTGCTTCATTCACGTTTTC	0.483								Direct_reversal_of_damage|Homologous_recombination	Fanconi_Anemia			
CORO7	79585	broad.mit.edu	37	16	4409528	4409528	+	Missense_Mutation	SNP	G	G	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr16:4409528G>T	uc002cwh.3	-	22	2323	c.2203C>A	c.(2203-2205)CTG>ATG	p.L735M	CORO7_uc002cwe.2_RNA|CORO7_uc002cwf.2_Missense_Mutation_p.L735M|CORO7_uc002cwg.3_Missense_Mutation_p.L515M|CORO7_uc010uxh.1_Missense_Mutation_p.L717M|CORO7_uc010uxi.1_Missense_Mutation_p.L650M|CORO7_uc002cwi.1_Missense_Mutation_p.L515M	NM_024535	NP_078811	P57737	CORO7_HUMAN	coronin 7	735	WD 8.					cytoplasmic membrane-bounded vesicle|cytosol|Golgi membrane|integral to membrane of membrane fraction|soluble fraction					0						TAGCTGGGCAGCAGGGTTGAG	0.672											OREG0023580	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
GLYR1	84656	broad.mit.edu	37	16	4861222	4861222	+	Silent	SNP	C	C	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr16:4861222C>T	uc002cxx.3	-	15	1573	c.1536G>A	c.(1534-1536)GCG>GCA	p.A512A	GLYR1_uc002cxy.2_RNA|GLYR1_uc002cxz.1_Silent_p.A426A|GLYR1_uc002cya.2_Silent_p.A506A|GLYR1_uc010uxv.1_Silent_p.A431A	NM_032569	NP_115958	Q49A26	GLYR1_HUMAN	cytokine-like nuclear factor n-pac	512					pentose-phosphate shunt	nucleus	coenzyme binding|DNA binding|methylated histone residue binding|phosphogluconate dehydrogenase (decarboxylating) activity				0						CATCACCCAGCGCAATGGCTA	0.478												
ALG1	56052	broad.mit.edu	37	16	5123189	5123189	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr16:5123189G>A	uc002cym.2	+	3	363	c.322G>A	c.(322-324)GTA>ATA	p.V108I	ALG1_uc002cyj.2_5'UTR|ALG1_uc002cyn.2_Missense_Mutation_p.V108I|ALG1_uc010bue.2_5'UTR|ALG1_uc010uxy.1_5'UTR	NM_019109	NP_061982	Q9BT22	ALG1_HUMAN	beta-1,4-mannosyltransferase	108	Lumenal (Potential).				dolichol-linked oligosaccharide biosynthetic process|lipopolysaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	chitobiosyldiphosphodolichol beta-mannosyltransferase activity			upper_aerodigestive_tract(1)|ovary(1)	2		Ovarian(90;0.0164)				AGTCAAAGTTGTACTTCAGGC	0.507												
TXNDC11	51061	broad.mit.edu	37	16	11792005	11792005	+	Silent	SNP	G	G	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr16:11792005G>A	uc010buu.1	-	8	1226	c.1164C>T	c.(1162-1164)GCC>GCT	p.A388A	TXNDC11_uc002dbg.1_Silent_p.A361A	NM_015914	NP_056998	Q6PKC3	TXD11_HUMAN	thioredoxin domain containing 11	388					cell redox homeostasis	endoplasmic reticulum membrane|integral to membrane					0						GATGACTTTCGGCCAGGGGAT	0.507												
ABCC1	4363	broad.mit.edu	37	16	16130382	16130382	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr16:16130382T>C	uc010bvi.2	+	7	906	c.731T>C	c.(730-732)TTA>TCA	p.L244S	ABCC1_uc010bvj.2_Missense_Mutation_p.L244S|ABCC1_uc010bvk.2_Missense_Mutation_p.L244S|ABCC1_uc010bvl.2_Missense_Mutation_p.L244S|ABCC1_uc010bvm.2_Missense_Mutation_p.L244S|ABCC1_uc002del.3_Missense_Mutation_p.L128S|ABCC1_uc010bvn.2_Missense_Mutation_p.L107S	NM_004996	NP_004987	P33527	MRP1_HUMAN	ATP-binding cassette, sub-family C, member 1	244	Cytoplasmic.				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug	Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus	ATP binding|ATPase activity, coupled to transmembrane movement of substances			ovary(4)	4					Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)	CTCTGGTCCTTAAACAAGGAG	0.537												
ACSM2A	123876	broad.mit.edu	37	16	20491904	20491904	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr16:20491904G>A	uc010bwe.2	+	12	1530	c.1291G>A	c.(1291-1293)GAC>AAC	p.D431N	ACSM2A_uc010vax.1_Missense_Mutation_p.D352N|ACSM2A_uc002dhf.3_Missense_Mutation_p.D431N|ACSM2A_uc002dhg.3_Missense_Mutation_p.D431N|ACSM2A_uc010vay.1_Missense_Mutation_p.D352N|ACSM2A_uc002dhh.3_Missense_Mutation_p.D61N	NM_001010845	NP_001010845	Q08AH3	ACS2A_HUMAN	acyl-CoA synthetase medium-chain family member	431					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			skin(2)|breast(1)	3						GGACAATCCCGACAAGACAGC	0.493												
DNAH3	55567	broad.mit.edu	37	16	21123071	21123071	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr16:21123071C>T	uc010vbe.1	-	14	1975	c.1975G>A	c.(1975-1977)GTG>ATG	p.V659M	DNAH3_uc002die.2_Missense_Mutation_p.V599M	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	659	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	18				GBM - Glioblastoma multiforme(48;0.207)		GCTAAAGGCACGGTGATGTTC	0.438												
UQCRC2	7385	broad.mit.edu	37	16	21974140	21974140	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr16:21974140G>A	uc002djx.2	+	6	584	c.448G>A	c.(448-450)GAA>AAA	p.E150K	UQCRC2_uc002djy.2_Missense_Mutation_p.E150K|UQCRC2_uc010bxa.2_RNA|UQCRC2_uc002djz.1_Missense_Mutation_p.E17K	NM_003366	NP_003357	P22695	QCR2_HUMAN	ubiquinol-cytochrome c reductase core protein II	150					aerobic respiration|oxidative phosphorylation|proteolysis|respiratory electron transport chain|transport		metalloendopeptidase activity|zinc ion binding			large_intestine(2)	2				GBM - Glioblastoma multiforme(48;0.0264)		TCGTCGTTGGGAAGTAGCTGA	0.413												
EEF2K	29904	broad.mit.edu	37	16	22291579	22291579	+	Silent	SNP	T	T	C			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr16:22291579T>C	uc002dki.2	+	17	2435	c.1950T>C	c.(1948-1950)TGT>TGC	p.C650C	EEF2K_uc002dkh.2_RNA	NM_013302	NP_037434	O00418	EF2K_HUMAN	elongation factor-2 kinase	650					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)		TGACGGACTGTGATGAGGGCG	0.597												
PLK1	5347	broad.mit.edu	37	16	23701317	23701317	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr16:23701317A>G	uc002dlz.1	+	10	1798	c.1745A>G	c.(1744-1746)TAC>TGC	p.Y582C		NM_005030	NP_005021	P53350	PLK1_HUMAN	polo-like kinase 1	582	POLO box 2.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|G2/M transition DNA damage checkpoint|G2/M transition of mitotic cell cycle|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic prophase|negative regulation of cyclin-dependent protein kinase activity|peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein destabilization|protein localization to chromatin|protein ubiquitination|regulation of mitotic anaphase|regulation of protein binding	centrosome|condensed nuclear chromosome outer kinetochore|cytosol|nucleoplasm|spindle microtubule|spindle midzone|spindle pole	anaphase-promoting complex binding|ATP binding|polo kinase kinase activity|protein kinase binding			lung(1)|skin(1)	2				GBM - Glioblastoma multiforme(48;0.0156)		CGGCTCCGCTACGCCCGCACT	0.647												
TNRC6A	27327	broad.mit.edu	37	16	24803029	24803029	+	Missense_Mutation	SNP	G	G	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr16:24803029G>T	uc002dmm.2	+	6	3180	c.3066G>T	c.(3064-3066)TGG>TGT	p.W1022C	TNRC6A_uc010bxs.2_Missense_Mutation_p.W769C|TNRC6A_uc010vcc.1_Missense_Mutation_p.W769C|TNRC6A_uc002dmn.2_Missense_Mutation_p.W769C|TNRC6A_uc002dmo.2_Missense_Mutation_p.W769C	NM_014494	NP_055309	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	1022	Sufficient for interaction with EIF2C1 and EIF2C4.				negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|micro-ribonucleoprotein complex	nucleotide binding|RNA binding			ovary(2)	2				GBM - Glioblastoma multiforme(48;0.0394)		TGAACATGTGGAACAAAAACG	0.458												
TNRC6A	27327	broad.mit.edu	37	16	24815588	24815588	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr16:24815588G>A	uc002dmm.2	+	12	3899	c.3785G>A	c.(3784-3786)CGG>CAG	p.R1262Q	TNRC6A_uc010bxs.2_Missense_Mutation_p.R1009Q|TNRC6A_uc002dmn.2_Missense_Mutation_p.R1009Q|TNRC6A_uc002dmo.2_Missense_Mutation_p.R950Q|TNRC6A_uc002dmp.2_5'UTR|TNRC6A_uc002dmq.2_5'Flank	NM_014494	NP_055309	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	1262	Sufficient for interaction with EIF2C1 and EIF2C4.				negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|micro-ribonucleoprotein complex	nucleotide binding|RNA binding			ovary(2)	2				GBM - Glioblastoma multiforme(48;0.0394)		CCTGGTTCTCGGCCTCAGATT	0.388												
TNRC6A	27327	broad.mit.edu	37	16	24817552	24817552	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr16:24817552C>T	uc002dmm.2	+	16	4391	c.4277C>T	c.(4276-4278)GCG>GTG	p.A1426V	TNRC6A_uc010bxs.2_Missense_Mutation_p.A1173V|TNRC6A_uc002dmn.2_Missense_Mutation_p.A1124V|TNRC6A_uc002dmo.2_Missense_Mutation_p.A1065V|TNRC6A_uc002dmp.2_Missense_Mutation_p.A27V|TNRC6A_uc002dmq.2_Missense_Mutation_p.A93V	NM_014494	NP_055309	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	1426					negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|micro-ribonucleoprotein complex	nucleotide binding|RNA binding			ovary(2)	2				GBM - Glioblastoma multiforme(48;0.0394)		CAGCAAAGGGCGCAGAGTCAG	0.507												
JMJD5	79831	broad.mit.edu	37	16	27232030	27232030	+	Silent	SNP	G	G	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr16:27232030G>T	uc002doh.2	+	8	1412	c.1230G>T	c.(1228-1230)TCG>TCT	p.S410S	JMJD5_uc010vcn.1_Silent_p.S448S|JMJD5_uc010bxw.2_Silent_p.S214S|JMJD5_uc010bxx.2_RNA	NM_024773	NP_079049	Q8N371	KDM8_HUMAN	jumonji domain containing 5 isoform 2	410	JmjC.				G2/M transition of mitotic cell cycle|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	chromatin binding|histone demethylase activity (H3-K36 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			ovary(2)|upper_aerodigestive_tract(1)	3						TGAGCTTCTCGGTCAGCTTCT	0.527												
KIAA0556	23247	broad.mit.edu	37	16	27751366	27751366	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr16:27751366T>C	uc002dow.2	+	15	1772	c.1748T>C	c.(1747-1749)CTT>CCT	p.L583P		NM_015202	NP_056017	O60303	K0556_HUMAN	hypothetical protein LOC23247	583										ovary(4)|large_intestine(2)|upper_aerodigestive_tract(1)|skin(1)	8						TTTCAGGATCTTGACATTGGT	0.403												
SRCAP	10847	broad.mit.edu	37	16	30750430	30750430	+	Silent	SNP	C	C	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr16:30750430C>T	uc002dze.1	+	34	9454	c.9069C>T	c.(9067-9069)CCC>CCT	p.P3023P	SRCAP_uc002dzf.2_RNA|SRCAP_uc002dzg.1_Silent_p.P2818P	NM_006662	NP_006653	Q6ZRS2	SRCAP_HUMAN	Snf2-related CBP activator protein	3023	Pro-rich.				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			ovary(3)|skin(1)	4			Colorectal(24;0.198)			GCCAGCTCCCCGTCTTGGACC	0.607												
SLC5A2	6524	broad.mit.edu	37	16	31499991	31499991	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr16:31499991C>T	uc002ecf.3	+	10	1197	c.1178C>T	c.(1177-1179)TCG>TTG	p.S393L	SLC5A2_uc010car.2_Intron|C16orf58_uc002ecg.2_RNA	NM_003041	NP_003032	P31639	SC5A2_HUMAN	solute carrier family 5 (sodium/glucose	393	Extracellular (Potential).				carbohydrate metabolic process	integral to membrane	low-affinity glucose:sodium symporter activity			ovary(1)	1						CTCATGTCCTCGCTGGCCTCC	0.706												
VPS35	55737	broad.mit.edu	37	16	46696158	46696158	+	Missense_Mutation	SNP	C	C	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr16:46696158C>A	uc002eef.3	-	15	2163	c.2064G>T	c.(2062-2064)GAG>GAT	p.E688D	VPS35_uc002eed.2_Missense_Mutation_p.E509D|VPS35_uc002eee.2_Missense_Mutation_p.E649D	NM_018206	NP_060676	Q96QK1	VPS35_HUMAN	vacuolar protein sorting 35	688					protein transport|retrograde transport, endosome to Golgi	cytosol|endosome|membrane	protein binding				0		all_cancers(37;7.65e-05)|all_epithelial(9;0.000154)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)				ACCTTACCTCCTCCCCATTTT	0.493												
NETO2	81831	broad.mit.edu	37	16	47165884	47165884	+	Silent	SNP	G	G	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr16:47165884G>A	uc002eer.1	-	2	472	c.87C>T	c.(85-87)ACC>ACT	p.T29T	NETO2_uc002ees.1_Silent_p.T29T	NM_018092	NP_060562	Q8NC67	NETO2_HUMAN	neuropilin- and tolloid-like protein 2	29	Extracellular (Potential).					integral to membrane	receptor activity				0		all_cancers(37;0.00114)|all_lung(18;0.00432)|Lung NSC(13;0.0384)|Breast(268;0.174)				CTTTACCTTGGGTTTTTTGGG	0.363										HNSCC(25;0.065)		
ZNF423	23090	broad.mit.edu	37	16	49670272	49670272	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr16:49670272T>C	uc002efs.2	-	5	3089	c.2791A>G	c.(2791-2793)AAG>GAG	p.K931E	ZNF423_uc010vgn.1_Missense_Mutation_p.K814E	NM_015069	NP_055884	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	931	C2H2-type 22.				cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			ovary(1)|lung(1)|kidney(1)|pancreas(1)	4		all_cancers(37;0.0155)				ACGTTGCACTTGTGACTGCCC	0.592												
IRX6	79190	broad.mit.edu	37	16	55363169	55363169	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr16:55363169T>C	uc002ehy.2	+	5	1812	c.1279T>C	c.(1279-1281)TGC>CGC	p.C427R	IRX6_uc002ehx.2_Missense_Mutation_p.C427R	NM_024335	NP_077311	P78412	IRX6_HUMAN	iroquois homeobox protein 6	427						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(5)|ovary(1)	6						CTGTGCGCCGTGCCCGCGGAG	0.617												
MT2A	4502	broad.mit.edu	37	16	56643249	56643249	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr16:56643249T>C	uc002ejh.2	+	3	259	c.169T>C	c.(169-171)TGC>CGC	p.C57R	MT1A_uc002eji.2_Intron	NM_005953	NP_005944	P02795	MT2_HUMAN	metallothionein 2A	57	Alpha.	Divalent metal cation; cluster A.			cellular copper ion homeostasis|interferon-gamma-mediated signaling pathway		metal ion binding|protein binding				0						GTCGGACAAGTGCAGCTGCTG	0.617												
NLRC5	84166	broad.mit.edu	37	16	57067548	57067548	+	Missense_Mutation	SNP	G	G	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr16:57067548G>T	uc002ekk.1	+	12	2735	c.2510G>T	c.(2509-2511)AGG>ATG	p.R837M	NLRC5_uc010ccq.1_RNA|NLRC5_uc002ekn.2_Missense_Mutation_p.R586M|NLRC5_uc002ekl.2_Missense_Mutation_p.R642M|NLRC5_uc002ekm.2_Missense_Mutation_p.R642M|NLRC5_uc010ccr.1_RNA|NLRC5_uc010ccs.1_5'Flank	NM_032206	NP_115582	Q86WI3	NLRC5_HUMAN	nucleotide-binding oligomerization domains 27	837					defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity	cytosol|nucleus	ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding			ovary(4)|skin(2)|breast(1)	7		all_neural(199;0.225)				GACGGCCAGAGGAAAGGGGCT	0.552												
CNOT1	23019	broad.mit.edu	37	16	58619303	58619303	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr16:58619303T>C	uc002env.2	-	8	1038	c.745A>G	c.(745-747)ACC>GCC	p.T249A	CNOT1_uc002enw.2_RNA|CNOT1_uc002enu.3_Missense_Mutation_p.T249A|CNOT1_uc002enx.2_Missense_Mutation_p.T249A|CNOT1_uc002enz.1_Intron	NM_016284	NP_057368	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	249					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol				ovary(4)|central_nervous_system(2)	6				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		TCCATCATGGTTTTAGCTACC	0.458												
CDH11	1009	broad.mit.edu	37	16	64981761	64981761	+	Silent	SNP	G	G	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr16:64981761G>A	uc002eoi.2	-	13	2570	c.2136C>T	c.(2134-2136)CCC>CCT	p.P712P	CDH11_uc010cdn.2_RNA|CDH11_uc002eoj.2_3'UTR|CDH11_uc010vin.1_Silent_p.P586P	NM_001797	NP_001788	P55287	CAD11_HUMAN	cadherin 11, type 2 preproprotein	712	Cytoplasmic (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development	integral to membrane|plasma membrane	calcium ion binding|protein binding			lung(10)|ovary(3)|skin(1)	14		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		CCACGCTGTTGGGCGCTGGCC	0.512			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)		
CMTM3	123920	broad.mit.edu	37	16	66643409	66643409	+	Silent	SNP	G	G	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr16:66643409G>A	uc002epu.2	+	4	634	c.375G>A	c.(373-375)TCG>TCA	p.S125S	CMTM3_uc002epv.2_Silent_p.S125S|CMTM3_uc002epw.2_Silent_p.S125S|CMTM3_uc002epx.2_Silent_p.S125S|CMTM3_uc002epy.2_RNA	NM_001048251	NP_001041716	Q96MX0	CKLF3_HUMAN	chemokine-like factor superfamily 3	125	MARVEL.				chemotaxis	extracellular space|integral to membrane	cytokine activity			central_nervous_system(1)	1		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0671)|Epithelial(162;0.164)		CCAAGTACTCGGATGGGGCTT	0.632												
CA7	766	broad.mit.edu	37	16	66880978	66880978	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr16:66880978G>A	uc002eqi.2	+	2	195	c.86G>A	c.(85-87)CGC>CAC	p.R29H	uc002eqh.2_Intron|CA7_uc002eqj.2_5'UTR	NM_005182	NP_005173	P43166	CAH7_HUMAN	carbonic anhydrase VII isoform 1	29					one-carbon metabolic process	cytoplasm	carbonate dehydratase activity|zinc ion binding				0		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.088)|Epithelial(162;0.204)		CAGGGAGATCGCCAATCACCC	0.592												
CES8	283848	broad.mit.edu	37	16	67040713	67040713	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr16:67040713C>T	uc002eqv.2	+	11	1343	c.1300C>T	c.(1300-1302)CGC>TGC	p.R434C	CES8_uc010vix.1_Intron|CES8_uc002eqw.2_Intron|CES8_uc002eqy.2_Missense_Mutation_p.R406C|CES8_uc002eqx.2_Missense_Mutation_p.R310C|CES8_uc010viy.1_Intron|CES8_uc010viz.1_Missense_Mutation_p.R406C|CES8_uc002eqz.2_Intron	NM_173815	NP_776176	Q5XG92	EST4A_HUMAN	carboxylesterase 8 (putative)	504						extracellular region	carboxylesterase activity				0						CAACTTTGCCCGCACAGGGTG	0.567												
EXOC3L	283849	broad.mit.edu	37	16	67221443	67221443	+	Missense_Mutation	SNP	C	C	T	rs141744902	by1000genomes	TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr16:67221443C>T	uc002erx.1	-	5	966	c.725G>A	c.(724-726)CGG>CAG	p.R242Q	EXOC3L_uc002erv.1_RNA|EXOC3L_uc002erw.1_Intron|EXOC3L_uc002ery.1_Missense_Mutation_p.R186Q|EXOC3L_uc010vje.1_Missense_Mutation_p.R181Q	NM_178516	NP_848611	Q86VI1	EX3L1_HUMAN	exocyst complex component 3-like	242	Mediates interaction with EXOC2, EXOC4 and EXOC5 (By similarity).				exocytosis|peptide hormone secretion	exocyst|stored secretory granule|transport vesicle					0		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0021)|Epithelial(162;0.0073)|all cancers(182;0.0616)		ACGCCAGTCCCGGGGGACCTG	0.692												
PLEKHG4	25894	broad.mit.edu	37	16	67314806	67314806	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr16:67314806G>A	uc002eso.3	+	3	3152	c.617G>A	c.(616-618)CGG>CAG	p.R206Q	PLEKHG4_uc002esp.3_Missense_Mutation_p.R13Q|PLEKHG4_uc002esq.3_Missense_Mutation_p.R206Q|PLEKHG4_uc002esr.1_Missense_Mutation_p.R54Q|PLEKHG4_uc010cef.2_Missense_Mutation_p.R206Q|PLEKHG4_uc002ess.3_Missense_Mutation_p.R206Q|PLEKHG4_uc010ceg.2_Missense_Mutation_p.R125Q	NM_015432	NP_056247	Q58EX7	PKHG4_HUMAN	pleckstrin homology domain containing, family G	206					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			skin(1)|pancreas(1)	2				OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)|Kidney(780;0.119)		GTCCAAGGCCGGGCAGTGCTG	0.647												
HSD11B2	3291	broad.mit.edu	37	16	67470195	67470195	+	Missense_Mutation	SNP	A	A	C			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr16:67470195A>C	uc002etd.2	+	4	824	c.708A>C	c.(706-708)AAA>AAC	p.K236N		NM_000196	NP_000187	P80365	DHI2_HUMAN	hydroxysteroid (11-beta) dehydrogenase 2	236					glucocorticoid biosynthetic process	endoplasmic reticulum|microsome					0		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0401)|Epithelial(162;0.0891)	NADH(DB00157)	GAACCTCCAAAGCGGCCGTGG	0.577												
ATP6V0D1	9114	broad.mit.edu	37	16	67477028	67477028	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr16:67477028C>T	uc002ete.1	-	4	635	c.535G>A	c.(535-537)GAG>AAG	p.E179K	ATP6V0D1_uc010vjo.1_Missense_Mutation_p.E220K|ATP6V0D1_uc010vjn.1_Missense_Mutation_p.E102K	NM_004691	NP_004682	P61421	VA0D1_HUMAN	ATPase, H+ transporting, lysosomal, V0 subunit	179					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	endosome membrane|proton-transporting V-type ATPase, V0 domain|vacuolar proton-transporting V-type ATPase complex					0		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0439)|Epithelial(162;0.101)		CGGATGATCTCGATGTTCATC	0.572												
CTCF	10664	broad.mit.edu	37	16	67670738	67670738	+	Silent	SNP	G	G	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr16:67670738G>A	uc002etl.2	+	11	2273	c.1983G>A	c.(1981-1983)CAG>CAA	p.Q661Q	CTCF_uc010cek.2_Silent_p.Q333Q|CTCF_uc002etm.1_Silent_p.Q150Q	NM_006565	NP_006556	P49711	CTCF_HUMAN	CCCTC-binding factor	661					chromatin modification|chromosome segregation|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|regulation of centromeric sister chromatid cohesion|regulation of molecular function, epigenetic	chromosome, centromeric region|condensed chromosome|nucleolus|nucleoplasm	chromatin insulator sequence binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding			ovary(1)	1		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0166)|Epithelial(162;0.0577)		GAACCAACCAGCCCAAACAGA	0.597												
RANBP10	57610	broad.mit.edu	37	16	67763281	67763281	+	Silent	SNP	G	G	C			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr16:67763281G>C	uc002eud.2	-	10	1370	c.1254C>G	c.(1252-1254)TCC>TCG	p.S418S	RANBP10_uc010ceo.2_Silent_p.S189S|RANBP10_uc010vju.1_Silent_p.S362S|RANBP10_uc010vjv.1_Silent_p.S301S|RANBP10_uc010vjw.1_Silent_p.S79S	NM_020850	NP_065901	Q6VN20	RBP10_HUMAN	RAN binding protein 10	418	Ser-rich.									ovary(1)	1		Acute lymphoblastic leukemia(13;4.34e-06)|all_hematologic(13;0.000643)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00522)|Epithelial(162;0.025)|all cancers(182;0.157)		aagaggacgaggaggaggagg	0.408												
PSKH1	5681	broad.mit.edu	37	16	67943103	67943103	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr16:67943103C>T	uc002euv.2	+	2	621	c.451C>T	c.(451-453)CGT>TGT	p.R151C	PSKH1_uc010cet.2_Missense_Mutation_p.R151C	NM_006742	NP_006733	P11801	KPSH1_HUMAN	protein serine kinase H1	151	Protein kinase.					endoplasmic reticulum membrane|Golgi apparatus|microtubule organizing center|nuclear speck|plasma membrane	ATP binding|protein serine/threonine kinase activity				0		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0044)|Epithelial(162;0.0197)|all cancers(182;0.128)		GCGTCGGGTGCGTCATGCCAA	0.612												
SLC7A6	9057	broad.mit.edu	37	16	68308738	68308738	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr16:68308738G>A	uc002evt.1	+	4	418	c.109G>A	c.(109-111)GAA>AAA	p.E37K	SLC7A6_uc010cfb.1_RNA|SLC7A6_uc002evu.1_Missense_Mutation_p.E37K|SLC7A6_uc002evv.1_RNA|SLC7A6_uc010cfc.1_RNA	NM_001076785	NP_001070253	Q92536	YLAT2_HUMAN	solute carrier family 7 (cationic amino acid	37	Cytoplasmic (Potential).				blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly	basolateral plasma membrane|integral to plasma membrane	amino acid transmembrane transporter activity|antiporter activity			central_nervous_system(1)	1		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.034)|Epithelial(162;0.0948)		AAGGTCCTCCGAAACTATGCA	0.577												
SMPD3	55512	broad.mit.edu	37	16	68405541	68405541	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr16:68405541C>T	uc002ewa.2	-	3	966	c.544G>A	c.(544-546)GCT>ACT	p.A182T	SMPD3_uc010cfe.2_Missense_Mutation_p.A182T|SMPD3_uc010vlh.1_Missense_Mutation_p.A182T	NM_018667	NP_061137	Q9NY59	NSMA2_HUMAN	neutral sphingomyelin phosphodiesterase 3	182	Lumenal (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)	CTGAAGCTAGCGGCGCTGATG	0.637												
HAS3	3038	broad.mit.edu	37	16	69143627	69143627	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr16:69143627G>A	uc010cfh.2	+	2	553	c.329G>A	c.(328-330)CGC>CAC	p.R110H	HAS3_uc002ewk.2_Missense_Mutation_p.R110H|HAS3_uc010vlk.1_Missense_Mutation_p.R110H|HAS3_uc002ewl.2_Missense_Mutation_p.R110H	NM_005329	NP_005320	O00219	HAS3_HUMAN	hyaluronan synthase 3 isoform a	110	Cytoplasmic (Potential).				carbohydrate metabolic process	integral to plasma membrane	hyaluronan synthase activity				0		Ovarian(137;0.101)		OV - Ovarian serous cystadenocarcinoma(108;0.0694)		TCGGCCCAGCGCATCTCCTTC	0.657												
TERF2	7014	broad.mit.edu	37	16	69404408	69404408	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr16:69404408T>C	uc002exd.2	-	5	817	c.692A>G	c.(691-693)GAC>GGC	p.D231G	TERF2_uc002exe.2_Missense_Mutation_p.D231G	NM_005652	NP_005643	Q15554	TERF2_HUMAN	telomeric repeat binding factor 2	231	TRFH dimerization.				age-dependent telomere shortening|cell cycle|cellular senescence|negative regulation of telomere maintenance via semi-conservative replication|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|regulation of transcription, DNA-dependent|telomeric loop formation	Golgi apparatus|nuclear telomere cap complex|nucleoplasm	double-stranded telomeric DNA binding|protein C-terminus binding|protein homodimerization activity			lung(1)	1		Ovarian(137;0.101)				GGGCTCGGCGTCATCCAGGTG	0.517												
COG4	25839	broad.mit.edu	37	16	70517769	70517769	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr16:70517769C>T	uc002ezc.2	-	14	1825	c.1814G>A	c.(1813-1815)CGA>CAA	p.R605Q	COG4_uc002eza.2_5'UTR|COG4_uc002ezb.2_Missense_Mutation_p.R61Q|COG4_uc010cfu.2_RNA|COG4_uc002ezd.2_Missense_Mutation_p.R584Q|COG4_uc002eze.2_Missense_Mutation_p.R299Q	NM_015386	NP_056201	Q9H9E3	COG4_HUMAN	component of oligomeric golgi complex 4	601					Golgi organization|Golgi vesicle prefusion complex stabilization|protein transport|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|Golgi transport complex	protein binding				0		Ovarian(137;0.0694)				CAAGAGGTCTCGGAATTTGTT	0.552												
SF3B3	23450	broad.mit.edu	37	16	70590798	70590798	+	Missense_Mutation	SNP	C	C	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr16:70590798C>A	uc002ezf.2	+	15	2087	c.1876C>A	c.(1876-1878)CAA>AAA	p.Q626K		NM_012426	NP_036558	Q15393	SF3B3_HUMAN	splicing factor 3b, subunit 3	626					protein complex assembly	catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex|U12-type spliceosomal complex	nucleic acid binding|protein binding			ovary(1)	1		Ovarian(137;0.0694)				GGACTGTTTGCAACCTCTAAG	0.448												
DHX38	9785	broad.mit.edu	37	16	72143405	72143405	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr16:72143405G>A	uc002fcb.2	+	25	3828	c.3473G>A	c.(3472-3474)CGG>CAG	p.R1158Q	DHX38_uc010vmp.1_Missense_Mutation_p.R470Q	NM_014003	NP_054722	Q92620	PRP16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 38	1158					mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|nucleoplasm	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			skin(1)	1		Ovarian(137;0.125)				GGCAAGTCACGGCAGGTGAGG	0.597												
ADAMTS18	170692	broad.mit.edu	37	16	77356327	77356327	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr16:77356327T>C	uc002ffc.3	-	14	2488	c.2069A>G	c.(2068-2070)AAC>AGC	p.N690S	ADAMTS18_uc010chc.1_Missense_Mutation_p.N278S|ADAMTS18_uc002ffe.1_Missense_Mutation_p.N386S	NM_199355	NP_955387	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1	690	Cys-rich.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			large_intestine(4)|lung(4)|kidney(4)|skin(3)|breast(1)|ovary(1)|pancreas(1)	18						AAATTCAAAGTTCTCAGCCTT	0.388												
SLC38A8	146167	broad.mit.edu	37	16	84067036	84067036	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr16:84067036G>A	uc002fhg.1	-	3	427	c.427C>T	c.(427-429)CAG>TAG	p.Q143*		NM_001080442	NP_001073911	A6NNN8	S38A8_HUMAN	solute carrier family 38, member 8	143					amino acid transport|sodium ion transport	integral to membrane					0						TACCACGGCTGCGGGGCGGGC	0.657												
MBTPS1	8720	broad.mit.edu	37	16	84126839	84126839	+	Missense_Mutation	SNP	G	G	A	rs149564178	by1000genomes	TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr16:84126839G>A	uc002fhi.2	-	6	1302	c.800C>T	c.(799-801)GCT>GTT	p.A267V		NM_003791	NP_003782	Q14703	MBTP1_HUMAN	membrane-bound transcription factor site-1	267	Serine protease.|Lumenal (Potential).				cholesterol metabolic process|proteolysis	endoplasmic reticulum lumen|endoplasmic reticulum membrane|Golgi membrane|integral to membrane	serine-type endopeptidase activity			ovary(2)	2						TGCATCTGGAGCAAATCCTTG	0.438												
ANKRD11	29123	broad.mit.edu	37	16	89383423	89383423	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr16:89383423G>A	uc002fmx.1	-	3	466	c.5C>T	c.(4-6)CCC>CTC	p.P2L	ANKRD11_uc002fmy.1_Missense_Mutation_p.P2L|ANKRD11_uc002fnc.1_Missense_Mutation_p.P2L|ANKRD11_uc002fnd.2_5'UTR|ANKRD11_uc002fne.2_5'UTR|ANKRD11_uc002fng.1_Missense_Mutation_p.P2L|ANKRD11_uc002fnf.1_Missense_Mutation_p.P2L	NM_013275	NP_037407	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	2						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)		CCCACCCTTGGGCATCGTCCT	0.542												
FANCA	2175	broad.mit.edu	37	16	89857811	89857811	+	Missense_Mutation	SNP	C	C	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr16:89857811C>A	uc002fou.1	-	14	1401	c.1359G>T	c.(1357-1359)AAG>AAT	p.K453N	FANCA_uc010vpn.1_Missense_Mutation_p.K453N	NM_000135	NP_000126	O15360	FANCA_HUMAN	Fanconi anemia, complementation group A isoform	453					DNA repair|protein complex assembly	cytoplasm|nucleoplasm	protein binding			ovary(2)|breast(2)|central_nervous_system(1)|skin(1)	6		Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.028)		GGTCACTTACCTTGAACCAGT	0.572			D|Mis|N|F|S			AML|leukemia		Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi_Anemia			
TUBB3	10381	broad.mit.edu	37	16	89999011	89999011	+	Silent	SNP	C	C	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr16:89999011C>T	uc002fph.1	+	2	155	c.90C>T	c.(88-90)ATC>ATT	p.I30I	TUBB3_uc002fpf.2_Silent_p.I377I|TUBB3_uc010ciz.1_5'UTR|TUBB3_uc010cja.1_RNA|TUBB3_uc002fpg.1_5'UTR|TUBB3_uc002fpi.1_5'UTR|TUBB3_uc002fpj.1_5'UTR|TUBB3_uc010cjb.1_5'UTR|TUBB3_uc002fpk.1_5'Flank	NM_006086	NP_006077	Q13509	TBB3_HUMAN	tubulin, beta, 4	30					'de novo' posttranslational protein folding|axon guidance|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			ovary(2)|pancreas(1)	3		all_cancers(9;1.69e-11)|Lung NSC(15;8.94e-06)|all_lung(18;1.39e-05)|all_neural(9;0.00581)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0273)		AGCATGGCATCGACCCCAGCG	0.622												
TUBB3	10381	broad.mit.edu	37	16	90001305	90001305	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr16:90001305C>T	uc002fph.1	+	4	511	c.446C>T	c.(445-447)ACG>ATG	p.T149M	TUBB3_uc002fpf.2_Missense_Mutation_p.T496M|TUBB3_uc010ciz.1_Missense_Mutation_p.T77M|TUBB3_uc002fpg.1_Missense_Mutation_p.T3M|TUBB3_uc002fpi.1_Missense_Mutation_p.T77M|TUBB3_uc002fpj.1_Missense_Mutation_p.T77M|TUBB3_uc010cjb.1_Missense_Mutation_p.T3M|TUBB3_uc002fpk.1_Missense_Mutation_p.T3M	NM_006086	NP_006077	Q13509	TBB3_HUMAN	tubulin, beta, 4	149					'de novo' posttranslational protein folding|axon guidance|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			ovary(2)|pancreas(1)	3		all_cancers(9;1.69e-11)|Lung NSC(15;8.94e-06)|all_lung(18;1.39e-05)|all_neural(9;0.00581)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0273)		GGCATGGGCACGTTGCTCATC	0.637												
GLOD4	51031	broad.mit.edu	37	17	685454	685454	+	Silent	SNP	T	T	C			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr17:685454T>C	uc002frv.2	-	1	118	c.42A>G	c.(40-42)GGA>GGG	p.G14G	GLOD4_uc002fru.2_Silent_p.G14G|GLOD4_uc010vqc.1_5'UTR|RNMTL1_uc002frw.2_5'Flank	NM_016080	NP_057164	Q9HC38	GLOD4_HUMAN	glyoxalase domain containing 4	14						mitochondrion					0				UCEC - Uterine corpus endometrioid carcinoma (25;0.022)		GGAAGCGGTTTCCCACTTTGA	0.677												
NXN	64359	broad.mit.edu	37	17	729260	729260	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr17:729260G>A	uc002fsa.2	-	2	511	c.419C>T	c.(418-420)GCC>GTC	p.A140V	NXN_uc002fsb.1_Missense_Mutation_p.A27V|NXN_uc002frz.2_5'UTR|NXN_uc010vqe.1_Missense_Mutation_p.A32V	NM_022463	NP_071908	Q6DKJ4	NXN_HUMAN	nucleoredoxin	140					cell differentiation|cell redox homeostasis|multicellular organismal development|Wnt receptor signaling pathway	cytosol|nucleus	protein-disulfide reductase activity			ovary(2)|breast(1)|pancreas(1)	4				UCEC - Uterine corpus endometrioid carcinoma (25;0.0237)		CCCAGTGGTGGCGTCGAGGAA	0.468												
SGSM2	9905	broad.mit.edu	37	17	2282378	2282378	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr17:2282378C>T	uc002fun.3	+	22	2988	c.2813C>T	c.(2812-2814)GCC>GTC	p.A938V	SGSM2_uc002fum.3_Missense_Mutation_p.A983V|SGSM2_uc010vqw.1_Missense_Mutation_p.A938V|SGSM2_uc002fup.1_Missense_Mutation_p.A116V|SGSM2_uc002fuq.2_Missense_Mutation_p.A100V	NM_001098509	NP_001091979	O43147	SGSM2_HUMAN	RUN and TBC1 domain containing 1 isoform 2	938	Rab-GAP TBC.					intracellular	Rab GTPase activator activity				0				Colorectal(2;5.15e-05)|READ - Rectum adenocarcinoma(2;0.000115)		ATCTGGGCAGCCAGGCACATC	0.547												
METT10D	79066	broad.mit.edu	37	17	2323528	2323528	+	Missense_Mutation	SNP	C	C	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr17:2323528C>A	uc002fut.2	-	10	1573	c.1425G>T	c.(1423-1425)GAG>GAT	p.E475D	METT10D_uc002fuu.3_RNA|METT10D_uc010cka.2_RNA|METT10D_uc002fuv.2_Intron|METT10D_uc010vqx.1_RNA|METT10D_uc010vqy.1_Missense_Mutation_p.E257D	NM_024086	NP_076991	Q86W50	MET16_HUMAN	methyltransferase 10 domain containing	475							methyltransferase activity				0						TTTCCAAAACCTCCACCCCTC	0.612												
TRPV3	162514	broad.mit.edu	37	17	3417934	3417934	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr17:3417934G>A	uc002fvt.1	-	17	2553	c.2231C>T	c.(2230-2232)ACG>ATG	p.T744M	SPATA22_uc010vrg.1_5'Flank|TRPV3_uc002fvs.1_RNA|TRPV3_uc010vrh.1_Missense_Mutation_p.T728M|TRPV3_uc010vri.1_Missense_Mutation_p.T699M|TRPV3_uc010vrj.1_Missense_Mutation_p.T728M|TRPV3_uc010vrk.1_RNA|TRPV3_uc010vrl.1_Missense_Mutation_p.T728M|TRPV3_uc010vrm.1_RNA|TRPV3_uc002fvr.2_Missense_Mutation_p.T744M|TRPV3_uc002fvu.2_Missense_Mutation_p.T744M	NM_145068	NP_659505	Q8NET8	TRPV3_HUMAN	transient receptor potential cation channel,	744	Cytoplasmic (Potential).					integral to membrane	calcium channel activity			ovary(4)	4					Menthol(DB00825)	GGAGACGTGCGTCTTCCATTC	0.473												
CTNS	1497	broad.mit.edu	37	17	3560021	3560021	+	Missense_Mutation	SNP	G	G	A	rs113994208		TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr17:3560021G>A	uc002fwb.2	+	9	1206	c.613G>A	c.(613-615)GAC>AAC	p.D205N	CTNS_uc002fwa.2_Missense_Mutation_p.D205N|CTNS_uc010ckj.2_Missense_Mutation_p.D205N|CTNS_uc010vrv.1_Missense_Mutation_p.D58N|CTNS_uc010vrw.1_Missense_Mutation_p.D97N	NM_004937	NP_004928	O60931	CTNS_HUMAN	cystinosin isoform 2	205	Lumenal (Potential).		Missing (in CTNS).|D -> N (in CTNS).		ATP metabolic process|brain development|cognition|glutathione metabolic process	integral to membrane|late endosome|lysosomal membrane	L-cystine transmembrane transporter activity				0				COAD - Colon adenocarcinoma(5;0.0829)	L-Cystine(DB00138)	GAACAGCAACGACGTCTTCTT	0.617												
CHRNE	1145	broad.mit.edu	37	17	4804184	4804184	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr17:4804184G>A	uc002fzk.1	-	8	832	c.821C>T	c.(820-822)ACG>ATG	p.T274M	C17orf107_uc002fzl.3_3'UTR	NM_000080	NP_000071	Q04844	ACHE_HUMAN	nicotinic acetylcholine receptor epsilon	274	Helical; (Potential).				muscle contraction|synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity				0						GATGGAGACCGTGCATTTCTG	0.647												
ZNF594	84622	broad.mit.edu	37	17	5086206	5086206	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr17:5086206C>T	uc010cla.1	-	2	1502	c.1346G>A	c.(1345-1347)AGA>AAA	p.R449K		NM_032530	NP_115919	Q96JF6	ZN594_HUMAN	zinc finger protein 594	449	C2H2-type 12.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)|skin(1)	3						ACGATGGTGTCTAATAAGATC	0.423												
NLRP1	22861	broad.mit.edu	37	17	5456824	5456824	+	Missense_Mutation	SNP	G	G	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr17:5456824G>T	uc002gci.2	-	5	2965	c.2410C>A	c.(2410-2412)CTC>ATC	p.L804I	NLRP1_uc002gcg.1_Missense_Mutation_p.L804I|NLRP1_uc002gck.2_Missense_Mutation_p.L804I|NLRP1_uc002gcj.2_Missense_Mutation_p.L804I|NLRP1_uc002gcl.2_Missense_Mutation_p.L804I|NLRP1_uc002gch.3_Missense_Mutation_p.L804I|NLRP1_uc010clh.2_Missense_Mutation_p.L804I	NM_033004	NP_127497	Q9C000	NALP1_HUMAN	NLR family, pyrin domain containing 1 isoform 1	804					defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide	cytoplasm|NALP1 inflammasome complex|nucleus	ATP binding|caspase activator activity|enzyme binding|protein domain specific binding			lung(4)|breast(2)|ovary(1)|central_nervous_system(1)|skin(1)	9		Colorectal(1115;3.48e-05)				GTGACCTTGAGGACGGAGAAG	0.552												
AIPL1	23746	broad.mit.edu	37	17	6337403	6337403	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr17:6337403G>A	uc002gcp.2	-	2	207	c.112C>T	c.(112-114)CGC>TGC	p.R38C	AIPL1_uc002gcq.2_Intron|AIPL1_uc002gcr.2_Missense_Mutation_p.R38C|AIPL1_uc010clk.2_Intron|AIPL1_uc010cll.2_Missense_Mutation_p.R38C|AIPL1_uc002gcs.2_Missense_Mutation_p.R38C	NM_014336	NP_055151	Q9NZN9	AIPL1_HUMAN	aryl hydrocarbon receptor interacting	38					protein farnesylation|protein folding|visual perception	cytoplasm|nucleus	farnesylated protein binding|unfolded protein binding				0				COAD - Colon adenocarcinoma(228;0.141)		TTCATGGTGCGGAAATGAAAG	0.567												
SLC16A11	162515	broad.mit.edu	37	17	6945418	6945418	+	Silent	SNP	G	G	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr17:6945418G>A	uc002gei.1	-	3	1421	c.1083C>T	c.(1081-1083)TTC>TTT	p.F361F		NM_153357	NP_699188	Q8NCK7	MOT11_HUMAN	solute carrier family 16, member 11	361	Extracellular (Potential).					integral to membrane|plasma membrane	symporter activity			ovary(1)	1						GGAGTACACCGAAAACCAGCG	0.711												
DNAH2	146754	broad.mit.edu	37	17	7681430	7681430	+	Silent	SNP	G	G	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr17:7681430G>A	uc002giu.1	+	33	5297	c.5283G>A	c.(5281-5283)ACG>ACA	p.T1761T		NM_020877	NP_065928	Q9P225	DYH2_HUMAN	dynein heavy chain domain 3	1761	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(6)|skin(6)|central_nervous_system(1)	13		all_cancers(10;4.66e-07)|Prostate(122;0.081)				AGACCAACACGCAATTTCAGT	0.532												
DNAH2	146754	broad.mit.edu	37	17	7701025	7701025	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr17:7701025A>G	uc002giu.1	+	52	8122	c.8108A>G	c.(8107-8109)TAT>TGT	p.Y2703C		NM_020877	NP_065928	Q9P225	DYH2_HUMAN	dynein heavy chain domain 3	2703					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(6)|skin(6)|central_nervous_system(1)	13		all_cancers(10;4.66e-07)|Prostate(122;0.081)				CCCAAGGTGTATGAAGACCTC	0.542												
PER1	5187	broad.mit.edu	37	17	8050660	8050660	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr17:8050660C>T	uc002gkd.2	-	13	1775	c.1537G>A	c.(1537-1539)GGC>AGC	p.G513S	PER1_uc010vuq.1_RNA|PER1_uc010vur.1_Missense_Mutation_p.G497S	NM_002616	NP_002607	O15534	PER1_HUMAN	period 1	513					circadian rhythm|entrainment of circadian clock|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity			lung(2)|breast(2)|skin(2)|large_intestine(1)|ovary(1)|kidney(1)	9						GTCACGGCGCCGACTCCACAG	0.662			T	ETV6	AML|CMML			Other_conserved_DNA_damage_response_genes				
MYH10	4628	broad.mit.edu	37	17	8390804	8390804	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr17:8390804C>T	uc002gll.2	-	34	4996	c.4900G>A	c.(4900-4902)GAG>AAG	p.E1634K	MYH10_uc002glm.2_Missense_Mutation_p.E1665K|MYH10_uc010cnx.2_Missense_Mutation_p.E1643K	NM_005964	NP_005955	P35580	MYH10_HUMAN	myosin, heavy polypeptide 10, non-muscle	1634	Potential.				actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(2)	2						TTCGCAGCCTCGATTTGGGCT	0.552												
MFSD6L	162387	broad.mit.edu	37	17	8700779	8700779	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr17:8700779A>G	uc002glp.1	-	1	1808	c.1660T>C	c.(1660-1662)TCG>CCG	p.S554P		NM_152599	NP_689812	Q8IWD5	MFS6L_HUMAN	major facilitator superfamily domain containing	554						integral to membrane				central_nervous_system(1)	1						AGCAGCTTCGAGTACTTGATT	0.587												
WDR16	146845	broad.mit.edu	37	17	9515752	9515752	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr17:9515752A>G	uc002gly.2	+	8	1050	c.981A>G	c.(979-981)ATA>ATG	p.I327M	WDR16_uc002glz.2_Missense_Mutation_p.I259M|WDR16_uc010coc.2_Missense_Mutation_p.I337M	NM_145054	NP_659491	Q8N1V2	WDR16_HUMAN	WD40-repeat protein upregulated in HCC isoform	327	WD 4.					cytoplasm|intracellular membrane-bounded organelle	protein binding			skin(2)|ovary(1)|central_nervous_system(1)	4						AGACGCTCATAGCGACTTGTC	0.418												
USP43	124739	broad.mit.edu	37	17	9631968	9631968	+	Silent	SNP	T	T	C			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr17:9631968T>C	uc010cod.2	+	15	3033	c.3033T>C	c.(3031-3033)AAT>AAC	p.N1011N	USP43_uc002gma.3_Silent_p.N700N|USP43_uc010vva.1_Silent_p.N1006N|USP43_uc010coe.2_Silent_p.N808N|USP43_uc002gmc.3_Silent_p.N523N	NM_153210	NP_694942	Q70EL4	UBP43_HUMAN	ubiquitin specific protease 43	1011					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			ovary(2)|lung(1)|breast(1)|central_nervous_system(1)	5						ACAGGAGGAATGAGAGGGCAG	0.642												
DHRS7C	201140	broad.mit.edu	37	17	9684848	9684848	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr17:9684848C>T	uc010vvb.1	-	2	218	c.218G>A	c.(217-219)AGG>AAG	p.R73K	DHRS7C_uc010cof.2_Missense_Mutation_p.R73K	NM_001105571	NP_001099041	A6NNS2	DRS7C_HUMAN	dehydrogenase/reductase (SDR family) member 7C	73						extracellular region	binding|oxidoreductase activity				0						GTTCTCTAGCCTCTCCCAGTT	0.572												
MYH3	4621	broad.mit.edu	37	17	10532979	10532979	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr17:10532979C>T	uc002gmq.1	-	39	5808	c.5731G>A	c.(5731-5733)GCG>ACG	p.A1911T		NM_002470	NP_002461	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle,	1911	Potential.				muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(4)|central_nervous_system(2)|pancreas(1)	7						GCGATATCCGCACGTTCCTCG	0.562												
MYH3	4621	broad.mit.edu	37	17	10533718	10533718	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr17:10533718G>A	uc002gmq.1	-	36	5421	c.5344C>T	c.(5344-5346)CGG>TGG	p.R1782W		NM_002470	NP_002461	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle,	1782	Potential.				muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(4)|central_nervous_system(2)|pancreas(1)	7						TTCTTCATCCGCTCAAGGTGG	0.577												
MYH3	4621	broad.mit.edu	37	17	10535909	10535909	+	Missense_Mutation	SNP	G	G	A	rs141020227		TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr17:10535909G>A	uc002gmq.1	-	33	4917	c.4840C>T	c.(4840-4842)CGG>TGG	p.R1614W		NM_002470	NP_002461	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle,	1614	Potential.				muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(4)|central_nervous_system(2)|pancreas(1)	7						TTCTTGAGCCGGATGGCTTCA	0.582												
MYH3	4621	broad.mit.edu	37	17	10542774	10542774	+	Missense_Mutation	SNP	C	C	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr17:10542774C>A	uc002gmq.1	-	23	3020	c.2943G>T	c.(2941-2943)GAG>GAT	p.E981D		NM_002470	NP_002461	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle,	981	Potential.				muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(4)|central_nervous_system(2)|pancreas(1)	7						CAGAGAGTTCCTCAGTAAGGT	0.413												
MYOCD	93649	broad.mit.edu	37	17	12655775	12655775	+	Silent	SNP	G	G	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr17:12655775G>A	uc002gnn.2	+	10	1469	c.1170G>A	c.(1168-1170)GTG>GTA	p.V390V	MYOCD_uc002gno.2_Silent_p.V390V|MYOCD_uc002gnp.1_Silent_p.V294V|MYOCD_uc002gnq.2_Silent_p.V109V	NM_153604	NP_705832	Q8IZQ8	MYCD_HUMAN	myocardin isoform 2	390	SAP.				cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding			central_nervous_system(2)|skin(2)|ovary(1)	5				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		GCTTGCCTGTGTCAGGCACCA	0.468												
RICH2	9912	broad.mit.edu	37	17	12888089	12888089	+	Silent	SNP	G	G	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr17:12888089G>A	uc002gnr.3	+	20	2508	c.2181G>A	c.(2179-2181)CGG>CGA	p.R727R	RICH2_uc010vvk.1_Silent_p.R727R|RICH2_uc010vvl.1_Silent_p.R721R|RICH2_uc002gns.3_Silent_p.R521R|RICH2_uc010vvm.1_Silent_p.R721R|RICH2_uc010vvn.1_RNA	NM_014859	NP_055674	Q17R89	RHG44_HUMAN	Rho GTPase-activating protein RICH2	727					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity				0						GCAAATCGCGGCCCACTCCTA	0.627												
ZNF624	57547	broad.mit.edu	37	17	16526349	16526349	+	Silent	SNP	G	G	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr17:16526349G>A	uc010cpi.1	-	6	1934	c.1851C>T	c.(1849-1851)TGC>TGT	p.C617C		NM_020787	NP_065838	Q9P2J8	ZN624_HUMAN	zinc finger protein 624	617	C2H2-type 13.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)|ovary(1)	2				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		ATGCCCTCTCGCAGTCAGTAC	0.383												
RAI1	10743	broad.mit.edu	37	17	17701059	17701059	+	Silent	SNP	G	G	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr17:17701059G>A	uc002grm.2	+	3	5266	c.4797G>A	c.(4795-4797)GTG>GTA	p.V1599V	RAI1_uc002grn.1_Silent_p.V1599V	NM_030665	NP_109590	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	1599						cytoplasm|nucleus	zinc ion binding			central_nervous_system(1)|skin(1)	2				READ - Rectum adenocarcinoma(1115;0.0276)		CACCCTTCGTGCGGGTGGAGA	0.562												
MYO15A	51168	broad.mit.edu	37	17	18053803	18053803	+	Missense_Mutation	SNP	G	G	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr17:18053803G>T	uc010vxh.1	+	35	7611	c.7273G>T	c.(7273-7275)GGC>TGC	p.G2425C		NM_016239	NP_057323	Q9UKN7	MYO15_HUMAN	myosin XV	2425	Tail.				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)					GCCCGGTGGAGGCAGCAGTAG	0.622												
CCDC144NL	339184	broad.mit.edu	37	17	20799228	20799228	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr17:20799228A>G	uc002gyf.2	-	1	226	c.106T>C	c.(106-108)TGG>CGG	p.W36R	uc002gyg.1_Intron|uc002gyh.1_Intron	NM_001004306	NP_001004306	Q6NUI1	C144L_HUMAN	coiled-coil domain containing 144 family,	36											0						TCCAAGTACCACTGGTCCTCC	0.647												
KSR1	8844	broad.mit.edu	37	17	25935009	25935009	+	Silent	SNP	G	G	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr17:25935009G>A	uc010crg.2	+	16	2164	c.1719G>A	c.(1717-1719)ACG>ACA	p.T573T	KSR1_uc002gzm.2_Silent_p.T352T|KSR1_uc002gzn.2_5'Flank	NM_014238	NP_055053	Q8IVT5	KSR1_HUMAN	kinase suppressor of ras	708	Protein kinase.				Ras protein signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			lung(3)|central_nervous_system(1)	4	Lung NSC(42;0.00836)		BRCA - Breast invasive adenocarcinoma(3;0.00122)	UCEC - Uterine corpus endometrioid carcinoma (53;0.168)		TCAACAAGACGAGGCAAATCG	0.612												
KIAA0100	9703	broad.mit.edu	37	17	26961642	26961642	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr17:26961642A>G	uc002hbu.2	-	16	3062	c.2963T>C	c.(2962-2964)GTA>GCA	p.V988A		NM_014680	NP_055495	Q14667	K0100_HUMAN	hypothetical protein LOC9703 precursor	988						extracellular region				ovary(2)|breast(1)|skin(1)	4	Lung NSC(42;0.00431)					AACCTGTTCTACCACATGCTC	0.537												
TLCD1	116238	broad.mit.edu	37	17	27051645	27051645	+	Silent	SNP	A	A	G			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr17:27051645A>G	uc002hco.2	-	4	742	c.627T>C	c.(625-627)GGT>GGC	p.G209G	TLCD1_uc010waw.1_Silent_p.G162G	NM_138463	NP_612472	Q96CP7	TLCD1_HUMAN	TLC domain containing 1 isoform 1	209	TLC.|Helical; (Potential).					integral to membrane					0	Lung NSC(42;0.00431)					TGAGCAGGATACCCAGCAGGA	0.537												
SSH2	85464	broad.mit.edu	37	17	28030050	28030050	+	Silent	SNP	A	A	G			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr17:28030050A>G	uc002heo.1	-	3	138	c.138T>C	c.(136-138)GGT>GGC	p.G46G	SSH2_uc010wbh.1_Silent_p.G73G|SSH2_uc002hep.1_Silent_p.G46G|SSH2_uc002heq.2_Silent_p.G53G|SSH2_uc002her.2_Silent_p.G46G|SSH2_uc010csc.1_Silent_p.G46G	NM_033389	NP_203747	Q76I76	SSH2_HUMAN	slingshot 2	46					actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			skin(2)	2						AAAGGGCAGCACCTTTGACAG	0.418												
ATAD5	79915	broad.mit.edu	37	17	29161389	29161389	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr17:29161389A>G	uc002hfs.1	+	2	636	c.290A>G	c.(289-291)GAC>GGC	p.D97G	ATAD5_uc002hft.1_5'UTR	NM_024857	NP_079133	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5	97					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)				AGCAACAAAGACTGTACGACA	0.328												
TMEM132E	124842	broad.mit.edu	37	17	32953298	32953298	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr17:32953298C>T	uc002hif.2	+	2	548	c.220C>T	c.(220-222)CAG>TAG	p.Q74*		NM_207313	NP_997196	Q6IEE7	T132E_HUMAN	transmembrane protein 132E precursor	74	Extracellular (Potential).					integral to membrane				central_nervous_system(1)	1				BRCA - Breast invasive adenocarcinoma(366;0.231)		CAGCTCTCTGCAGCGCTCCGA	0.701												
LIG3	3980	broad.mit.edu	37	17	33319045	33319045	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr17:33319045C>T	uc002hik.1	+	7	1385	c.1277C>T	c.(1276-1278)GCA>GTA	p.A426V	LIG3_uc002hij.2_Missense_Mutation_p.A426V|LIG3_uc010cth.1_Missense_Mutation_p.A435V	NM_013975	NP_039269	P49916	DNLI3_HUMAN	ligase III, DNA, ATP-dependent isoform alpha	426					base-excision repair|cell division|DNA ligation involved in DNA repair|DNA replication|reciprocal meiotic recombination|spermatogenesis	nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|protein binding|zinc ion binding			skin(3)|lung(2)|ovary(2)|large_intestine(1)|pancreas(1)	9		Ovarian(249;0.17)			Bleomycin(DB00290)	AACTCAGGTGCAAAACATGTG	0.388								Other_BER_factors				
FNDC8	54752	broad.mit.edu	37	17	33454302	33454302	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr17:33454302A>G	uc002hix.2	+	2	533	c.451A>G	c.(451-453)AGG>GGG	p.R151G		NM_017559	NP_060029	Q8TC99	FNDC8_HUMAN	fibronectin type III domain containing 8	151										ovary(2)	2		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.022)		GATGGCCACAAGGGGCCTGCT	0.577												
SLFN11	91607	broad.mit.edu	37	17	33679860	33679860	+	Silent	SNP	A	A	G			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr17:33679860A>G	uc010ctp.2	-	7	2663	c.2221T>C	c.(2221-2223)TTA>CTA	p.L741L	SLFN11_uc010ctq.2_Silent_p.L741L|SLFN11_uc002hjh.3_Silent_p.L741L|SLFN11_uc002hjg.3_Silent_p.L741L|SLFN11_uc010ctr.2_Silent_p.L741L	NM_001104588	NP_001098058	Q7Z7L1	SLN11_HUMAN	schlafen family member 11	741						nucleus	ATP binding			large_intestine(1)|ovary(1)|skin(1)	3		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		TCTTTTTGTAAGTACTTGGCT	0.463												
GGNBP2	79893	broad.mit.edu	37	17	34941792	34941792	+	Silent	SNP	T	T	C			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr17:34941792T>C	uc002hnb.2	+	10	1527	c.1278T>C	c.(1276-1278)ACT>ACC	p.T426T	GGNBP2_uc002hna.2_Silent_p.T426T|GGNBP2_uc002hnc.1_Silent_p.T255T	NM_024835	NP_079111	Q9H3C7	GGNB2_HUMAN	zinc finger protein 403	426					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)		ATGGTAATACTTGTGTAGAAG	0.373												
ACACA	31	broad.mit.edu	37	17	35518796	35518796	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr17:35518796G>A	uc002hnm.2	-	42	5328	c.5137C>T	c.(5137-5139)CGC>TGC	p.R1713C	ACACA_uc002hnk.2_Missense_Mutation_p.R1635C|ACACA_uc002hnl.2_Missense_Mutation_p.R1655C|ACACA_uc002hnn.2_Missense_Mutation_p.R1713C|ACACA_uc002hno.2_Missense_Mutation_p.R1750C|ACACA_uc010cuy.2_Missense_Mutation_p.R358C|ACACA_uc010wdc.1_Translation_Start_Site	NM_198836	NP_942133	Q13085	ACACA_HUMAN	acetyl-Coenzyme A carboxylase alpha isoform 2	1713	Carboxyltransferase.				acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			large_intestine(1)|ovary(1)	2		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	ACATAGATGCGTGGAATACCT	0.463												
CDK12	51755	broad.mit.edu	37	17	37627441	37627441	+	Silent	SNP	A	A	G			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr17:37627441A>G	uc010cvv.2	+	2	1942	c.1356A>G	c.(1354-1356)AAA>AAG	p.K452K	CDK12_uc010wef.1_Silent_p.K451K|CDK12_uc002hrw.3_Silent_p.K452K	NM_016507	NP_057591	Q9NYV4	CDK12_HUMAN	Cdc2-related kinase, arginine/serine-rich	452					mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity|RNA splicing	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			ovary(10)|lung(4)|breast(2)|skin(2)|large_intestine(1)	19						GAAGTGTAAAATTGGAAAAAT	0.383										TCGA Ovarian(9;0.13)		
CDK12	51755	broad.mit.edu	37	17	37667883	37667883	+	Missense_Mutation	SNP	G	G	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr17:37667883G>T	uc010cvv.2	+	8	3354	c.2768G>T	c.(2767-2769)GGA>GTA	p.G923V	CDK12_uc010wef.1_Missense_Mutation_p.G922V|CDK12_uc002hrw.3_Missense_Mutation_p.G923V	NM_016507	NP_057591	Q9NYV4	CDK12_HUMAN	Cdc2-related kinase, arginine/serine-rich	923	Protein kinase.				mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity|RNA splicing	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			ovary(10)|lung(4)|breast(2)|skin(2)|large_intestine(1)	19						TGGAGCTGTGGGTAAGGTTCT	0.408										TCGA Ovarian(9;0.13)		
WIPF2	147179	broad.mit.edu	37	17	38421184	38421184	+	Silent	SNP	T	T	G			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr17:38421184T>G	uc002hug.1	+	5	996	c.756T>G	c.(754-756)CCT>CCG	p.P252P	WIPF2_uc002huh.1_Silent_p.P102P|WIPF2_uc010cww.1_Silent_p.P102P|WIPF2_uc002hui.1_Silent_p.P252P|WIPF2_uc010cwx.1_Intron|WIPF2_uc010cwy.1_Silent_p.P252P	NM_133264	NP_573571	Q8TF74	WIPF2_HUMAN	WIRE protein	252	Poly-Pro.					cytoplasm|cytoskeleton	actin binding			upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)	3						CTCCTCCTCCTCCGCCTTACC	0.592										HNSCC(43;0.11)		
SMARCE1	6605	broad.mit.edu	37	17	38788517	38788517	+	Missense_Mutation	SNP	A	A	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr17:38788517A>T	uc002hux.2	-	8	768	c.644T>A	c.(643-645)GTT>GAT	p.V215D	SMARCE1_uc010wff.1_Missense_Mutation_p.V180D|SMARCE1_uc010wfg.1_Missense_Mutation_p.V145D|SMARCE1_uc002huy.2_Missense_Mutation_p.V180D|SMARCE1_uc010wfh.1_Missense_Mutation_p.V145D|SMARCE1_uc010wfi.1_Missense_Mutation_p.V197D	NM_003079	NP_003070	Q969G3	SMCE1_HUMAN	SWI/SNF-related matrix-associated	215					chromatin modification|negative regulation of transcription, DNA-dependent|nervous system development|nucleosome disassembly|regulation of transcription from RNA polymerase II promoter	nBAF complex|npBAF complex|nuclear chromosome|SWI/SNF complex|transcriptional repressor complex	chromatin binding|DNA binding|N-acetyltransferase activity|protein binding|protein N-terminus binding|transcription coactivator activity				0		Breast(137;0.000812)				AACTGACCGAACGTCTGGCAC	0.453												
KRT33A	3883	broad.mit.edu	37	17	39502761	39502761	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr17:39502761G>A	uc002hwk.1	-	6	1073	c.1036C>T	c.(1036-1038)CGG>TGG	p.R346W		NM_004138	NP_004129	O76009	KT33A_HUMAN	keratin 33A	346	Coil 2.|Rod.					intermediate filament	protein binding|structural molecule activity				0		Breast(137;0.000496)				AGCCGCGCCCGCACGTCCAGC	0.602												
STAT3	6774	broad.mit.edu	37	17	40467787	40467787	+	Silent	SNP	C	C	T	rs147202525		TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr17:40467787C>T	uc002hzl.1	-	24	2529	c.2289G>A	c.(2287-2289)TCG>TCA	p.S763S	STAT3_uc002hzk.1_3'UTR|STAT3_uc002hzm.1_Silent_p.S762S|STAT3_uc010wgh.1_Silent_p.S665S|STAT3_uc002hzn.1_Silent_p.S763S|STAT3_uc010cyf.1_3'UTR	NM_139276	NP_644805	P40763	STAT3_HUMAN	signal transducer and activator of transcription	763					cellular component movement|eating behavior|eye photoreceptor cell differentiation|glucose homeostasis|interleukin-6-mediated signaling pathway|interspecies interaction between organisms|JAK-STAT cascade involved in growth hormone signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein import into nucleus|response to estradiol stimulus|sexual reproduction|temperature homeostasis	cytosol|nucleus|plasma membrane	calcium ion binding|ligand-regulated transcription factor activity|protein dimerization activity|protein kinase binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription factor binding|transcription regulatory region DNA binding			ovary(1)|lung(1)|breast(1)|central_nervous_system(1)	4		all_cancers(22;1.39e-06)|all_epithelial(22;2.95e-05)|Breast(137;0.000135)		BRCA - Breast invasive adenocarcinoma(366;0.139)		TAGCGCACTCCGAGGTCAACT	0.582									Hyperimmunoglobulin_E_Recurrent_Infection_Syndrome			
PTRF	284119	broad.mit.edu	37	17	40575031	40575031	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr17:40575031C>T	uc002hzo.2	-	1	244	c.85G>A	c.(85-87)GCT>ACT	p.A29T	PTRF_uc010wgi.1_Missense_Mutation_p.A29T	NM_012232	NP_036364	Q6NZI2	PTRF_HUMAN	polymerase I and transcript release factor	29					regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription initiation from RNA polymerase I promoter	caveola|cytosol|endoplasmic reticulum|microsome|mitochondrion|nucleoplasm	protein binding|rRNA primary transcript binding			breast(1)	1		all_cancers(22;0.00146)|Breast(137;0.00116)|all_epithelial(22;0.0134)		BRCA - Breast invasive adenocarcinoma(366;0.193)		GCTGCCTGAGCCCCAGCGGAG	0.672												
PLEKHH3	79990	broad.mit.edu	37	17	40822025	40822025	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr17:40822025G>A	uc002iau.2	-	11	2391	c.1924C>T	c.(1924-1926)CGA>TGA	p.R642*	PLEKHH3_uc010cyl.1_RNA|PLEKHH3_uc002iat.1_RNA|PLEKHH3_uc002iav.2_RNA|PLEKHH3_uc010cym.1_Nonsense_Mutation_p.R3*|PLEKHH3_uc002iaw.2_Nonsense_Mutation_p.R639*	NM_024927	NP_079203	Q7Z736	PKHH3_HUMAN	pleckstrin homology domain containing, family H	642	FERM.				signal transduction	cytoskeleton				large_intestine(1)|ovary(1)	2		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.14)		GCCTCAGCTCGGCCCATGCCC	0.692												
WNK4	65266	broad.mit.edu	37	17	40940391	40940391	+	Missense_Mutation	SNP	G	G	A	rs146190504		TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr17:40940391G>A	uc002ibj.2	+	10	2027	c.2006G>A	c.(2005-2007)CGG>CAG	p.R669Q	WNK4_uc010wgx.1_Missense_Mutation_p.R333Q|WNK4_uc002ibk.1_Missense_Mutation_p.R441Q|WNK4_uc010wgy.1_Missense_Mutation_p.R13Q	NM_032387	NP_115763	Q96J92	WNK4_HUMAN	WNK lysine deficient protein kinase 4	669					intracellular protein kinase cascade	tight junction	ATP binding|protein serine/threonine kinase activity			ovary(3)|skin(3)|stomach(1)	7		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		AGGAATCTCCGGCGCAGACCC	0.572												
BRCA1	672	broad.mit.edu	37	17	41234588	41234588	+	Missense_Mutation	SNP	C	C	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr17:41234588C>A	uc002icq.2	-	12	4422	c.4190G>T	c.(4189-4191)AGG>ATG	p.R1397M	BRCA1_uc010whp.1_Missense_Mutation_p.R247M|BRCA1_uc010whl.1_Missense_Mutation_p.R294M|BRCA1_uc010whm.1_Intron|BRCA1_uc002icp.3_Missense_Mutation_p.R1326M|BRCA1_uc002icu.2_Missense_Mutation_p.R294M|BRCA1_uc010cyx.2_Missense_Mutation_p.R1350M|BRCA1_uc002ict.2_Missense_Mutation_p.R1397M|BRCA1_uc010whn.1_Intron|BRCA1_uc010who.1_Intron|BRCA1_uc010whq.1_Missense_Mutation_p.R126M|BRCA1_uc002idc.1_Missense_Mutation_p.R293M|BRCA1_uc010whr.1_Missense_Mutation_p.R247M	NM_007294	NP_009225	P38398	BRCA1_HUMAN	breast cancer 1, early onset isoform 1	1397	Interaction with PALB2.				androgen receptor signaling pathway|apoptosis|cellular response to indole-3-methanol|chromosome segregation|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA damage response, signal transduction resulting in induction of apoptosis|double-strand break repair via homologous recombination|fatty acid biosynthetic process|G2/M transition DNA damage checkpoint|negative regulation of centriole replication|negative regulation of fatty acid biosynthetic process|negative regulation of histone H3-K9 methylation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle arrest|positive regulation of DNA repair|positive regulation of histone acetylation|positive regulation of histone H3-K4 methylation|positive regulation of histone H4-K20 methylation|positive regulation of protein ubiquitination|positive regulation of transcription from RNA polymerase II promoter|postreplication repair|protein autoubiquitination|protein K6-linked ubiquitination|regulation of cell motility|regulation of cell proliferation|regulation of transcription from RNA polymerase III promoter|response to estrogen stimulus|response to ionizing radiation|substrate adhesion-dependent cell spreading	BRCA1-A complex|BRCA1-BARD1 complex|gamma-tubulin ring complex|nucleoplasm|plasma membrane|ribonucleoprotein complex|ruffle	androgen receptor binding|identical protein binding|protein binding|RNA binding|transcription coactivator activity|transcription regulatory region DNA binding|tubulin binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(24)|breast(21)|lung(4)|central_nervous_system(1)|endometrium(1)|urinary_tract(1)	52		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)		CATGGTATCCCTCTGCTTCAA	0.383			D|Mis|N|F|S		ovarian	breast|ovarian		Homologous_recombination	Hereditary_Breast-Ovarian_Cancer_BRCA1_type	TCGA Ovarian(2;0.000030)		
BRCA1	672	broad.mit.edu	37	17	41244577	41244577	+	Missense_Mutation	SNP	T	T	G			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr17:41244577T>G	uc002icq.2	-	10	3203	c.2971A>C	c.(2971-2973)AAA>CAA	p.K991Q	BRCA1_uc010whp.1_Intron|BRCA1_uc010whl.1_Intron|BRCA1_uc010whm.1_Intron|BRCA1_uc002icp.3_Missense_Mutation_p.K920Q|BRCA1_uc002icu.2_Intron|BRCA1_uc010cyx.2_Missense_Mutation_p.K944Q|BRCA1_uc002ict.2_Missense_Mutation_p.K991Q|BRCA1_uc010whn.1_Intron|BRCA1_uc010who.1_Intron|BRCA1_uc010whq.1_Intron|BRCA1_uc002idc.1_Intron|BRCA1_uc010whr.1_Intron|BRCA1_uc002idd.2_Missense_Mutation_p.K991Q|BRCA1_uc002ide.1_Missense_Mutation_p.K822Q|BRCA1_uc010cyy.1_Missense_Mutation_p.K991Q|BRCA1_uc010whs.1_Missense_Mutation_p.K991Q|BRCA1_uc010cyz.2_Missense_Mutation_p.K944Q|BRCA1_uc010cza.2_Missense_Mutation_p.K965Q|BRCA1_uc010wht.1_Missense_Mutation_p.K695Q	NM_007294	NP_009225	P38398	BRCA1_HUMAN	breast cancer 1, early onset isoform 1	991					androgen receptor signaling pathway|apoptosis|cellular response to indole-3-methanol|chromosome segregation|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA damage response, signal transduction resulting in induction of apoptosis|double-strand break repair via homologous recombination|fatty acid biosynthetic process|G2/M transition DNA damage checkpoint|negative regulation of centriole replication|negative regulation of fatty acid biosynthetic process|negative regulation of histone H3-K9 methylation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle arrest|positive regulation of DNA repair|positive regulation of histone acetylation|positive regulation of histone H3-K4 methylation|positive regulation of histone H4-K20 methylation|positive regulation of protein ubiquitination|positive regulation of transcription from RNA polymerase II promoter|postreplication repair|protein autoubiquitination|protein K6-linked ubiquitination|regulation of cell motility|regulation of cell proliferation|regulation of transcription from RNA polymerase III promoter|response to estrogen stimulus|response to ionizing radiation|substrate adhesion-dependent cell spreading	BRCA1-A complex|BRCA1-BARD1 complex|gamma-tubulin ring complex|nucleoplasm|plasma membrane|ribonucleoprotein complex|ruffle	androgen receptor binding|identical protein binding|protein binding|RNA binding|transcription coactivator activity|transcription regulatory region DNA binding|tubulin binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(24)|breast(21)|lung(4)|central_nervous_system(1)|endometrium(1)|urinary_tract(1)	52		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)		CATTTAGTTTTAACAAATGAC	0.363			D|Mis|N|F|S		ovarian	breast|ovarian		Homologous_recombination	Hereditary_Breast-Ovarian_Cancer_BRCA1_type	TCGA Ovarian(2;0.000030)		
C17orf46	124783	broad.mit.edu	37	17	43334552	43334552	+	Silent	SNP	G	G	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr17:43334552G>A	uc002iis.1	-	2	132	c.36C>T	c.(34-36)TGC>TGT	p.C12C	LOC100133991_uc010dah.2_Intron|C17orf46_uc010wjk.1_5'UTR	NM_152343	NP_689556	Q96LK8	CQ046_HUMAN	hypothetical protein LOC124783	12										large_intestine(1)|ovary(1)	2						ACCCTTTGCCGCAGCATGGAA	0.632												
PLEKHM1	9842	broad.mit.edu	37	17	43545824	43545824	+	Missense_Mutation	SNP	C	C	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr17:43545824C>A	uc002ija.2	-	5	1229	c.1059G>T	c.(1057-1059)GAG>GAT	p.E353D	PLEKHM1_uc010wjm.1_Missense_Mutation_p.E325D|PLEKHM1_uc002ijb.2_Intron|PLEKHM1_uc010wjn.1_Missense_Mutation_p.E302D	NM_014798	NP_055613	Q9Y4G2	PKHM1_HUMAN	pleckstrin homology domain containing, family M	353					intracellular signal transduction	cytoplasm	metal ion binding				0	Renal(3;0.0405)					CTGCAGGTGCCTCACAGTGCA	0.632												
WNT9B	7484	broad.mit.edu	37	17	44952494	44952494	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr17:44952494C>T	uc002ikw.1	+	3	399	c.362C>T	c.(361-363)GCG>GTG	p.A121V	WNT9B_uc002ikx.1_Missense_Mutation_p.A121V	NM_003396	NP_003387	O14905	WNT9B_HUMAN	wingless-type MMTV integration site family,	121					anterior/posterior pattern formation|axis specification|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway|cell-cell signaling|cellular response to retinoic acid|collecting duct development|cornea development in camera-type eye|endoderm development|establishment of planar polarity involved in nephron morphogenesis|kidney rudiment formation|male genitalia development|mesonephric duct formation|metanephric tubule development|neuron differentiation|palate development|regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|uterus morphogenesis|Wnt receptor signaling pathway, calcium modulating pathway|Wnt receptor signaling pathway, planar cell polarity pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|G-protein-coupled receptor binding			lung(2)	2			BRCA - Breast invasive adenocarcinoma(9;0.0257)			TTCCTGTACGCGGTGTCCTCT	0.542												
WNT9B	7484	broad.mit.edu	37	17	44952641	44952641	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr17:44952641C>T	uc002ikw.1	+	3	546	c.509C>T	c.(508-510)ACC>ATC	p.T170I	WNT9B_uc002ikx.1_Missense_Mutation_p.T170I	NM_003396	NP_003387	O14905	WNT9B_HUMAN	wingless-type MMTV integration site family,	170					anterior/posterior pattern formation|axis specification|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway|cell-cell signaling|cellular response to retinoic acid|collecting duct development|cornea development in camera-type eye|endoderm development|establishment of planar polarity involved in nephron morphogenesis|kidney rudiment formation|male genitalia development|mesonephric duct formation|metanephric tubule development|neuron differentiation|palate development|regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|uterus morphogenesis|Wnt receptor signaling pathway, calcium modulating pathway|Wnt receptor signaling pathway, planar cell polarity pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|G-protein-coupled receptor binding			lung(2)	2			BRCA - Breast invasive adenocarcinoma(9;0.0257)			AAGTACAGCACCAAGTTTCTG	0.627												
SP6	80320	broad.mit.edu	37	17	45924731	45924731	+	Silent	SNP	G	G	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr17:45924731G>A	uc002img.1	-	2	1397	c.1065C>T	c.(1063-1065)GGC>GGT	p.G355G	SP6_uc002imh.1_Silent_p.G355G	NM_199262	NP_954871	Q3SY56	SP6_HUMAN	Sp6 transcription factor	355					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(1)	1						GCTCCACTGCGCCGCCGGCCT	0.711												
ITGA3	3675	broad.mit.edu	37	17	48148781	48148781	+	Missense_Mutation	SNP	G	G	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr17:48148781G>T	uc010dbl.2	+	6	1322	c.858G>T	c.(856-858)CAG>CAT	p.Q286H	ITGA3_uc010dbm.2_Missense_Mutation_p.Q286H	NM_002204	NP_002195	P26006	ITA3_HUMAN	integrin alpha 3 isoform a precursor	286	FG-GAP 4.|Extracellular (Potential).				blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|leukocyte migration	cell surface|integrin complex	protein binding|receptor activity			ovary(2)|pancreas(1)	3						TGCTGAGCCAGGAGGCAGGCG	0.617												
BZRAP1	9256	broad.mit.edu	37	17	56382987	56382987	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr17:56382987G>A	uc002ivx.3	-	28	6146	c.5275C>T	c.(5275-5277)CCC>TCC	p.P1759S	BZRAP1_uc002ivv.2_5'Flank|BZRAP1_uc002ivw.2_5'UTR|BZRAP1_uc010dcs.2_Missense_Mutation_p.P1699S|BZRAP1_uc010wnt.1_Missense_Mutation_p.P1750S	NM_004758	NP_004749	O95153	RIMB1_HUMAN	peripheral benzodiazepine receptor-associated	1759						mitochondrion	benzodiazepine receptor binding			upper_aerodigestive_tract(2)|skin(1)	3	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TCAGCAGAGGGGACCAGCTTA	0.612												
CLTC	1213	broad.mit.edu	37	17	57752157	57752157	+	Silent	SNP	T	T	C	rs139004755		TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr17:57752157T>C	uc002ixq.1	+	16	2957	c.2514T>C	c.(2512-2514)GGT>GGC	p.G838G	CLTC_uc002ixp.2_Silent_p.G838G|CLTC_uc002ixr.1_Silent_p.G842G	NM_004859	NP_004850	Q00610	CLH1_HUMAN	clathrin heavy chain 1	838	Heavy chain arm.|Proximal segment.				axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|mitosis|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport|receptor internalization|transferrin transport	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|cytosol|melanosome|spindle	protein binding|structural molecule activity		CLTC/ALK(44)|CLTC/TFE3(2)	haematopoietic_and_lymphoid_tissue(33)|soft_tissue(11)|kidney(2)|ovary(1)|breast(1)	48	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					TTGTAAGAGGTCAATTCTCTA	0.368			T	ALK|TFE3	ALCL|renal 							
CACNG5	27091	broad.mit.edu	37	17	64881122	64881122	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr17:64881122A>G	uc010wqi.1	+	6	830	c.593A>G	c.(592-594)TAC>TGC	p.Y198C	CACNG5_uc010wqj.1_Missense_Mutation_p.Y198C	NM_145811	NP_665810	Q9UF02	CCG5_HUMAN	voltage-dependent calcium channel gamma-5	198				SAGVMSVYLFMKRYTAEDMYRPHPGFYRPRLSNCSDYSGQF LHPDAWVRGRSPSDISSEASLQMNSNYPALLKCPDYDQMSS SPC -> VKPVTLSMDRLGLGTAPLSRGEWGWGRRDIPQPF WTPDHPLYFPSSSQNVSLSYLSGSPPARMSPGPCSCPHVHF PPHSSCVLCRPQPREMRQAPAASPSSAVFSL (in Ref. 1; AAF03089).	regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|postsynaptic density|postsynaptic membrane	voltage-gated calcium channel activity			pancreas(1)|skin(1)	2			BRCA - Breast invasive adenocarcinoma(6;1.61e-08)			ATGTCTGTGTACCTGTTTATG	0.612												
HELZ	9931	broad.mit.edu	37	17	65103454	65103454	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr17:65103454T>C	uc010wqk.1	-	31	5262	c.5075A>G	c.(5074-5076)AAT>AGT	p.N1692S	HELZ_uc002jfv.3_RNA|HELZ_uc002jfx.3_Missense_Mutation_p.N1691S	NM_014877	NP_055692			helicase with zinc finger domain											ovary(1)|pancreas(1)	2	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)					CATTAGGTGATTCTGTTGCAA	0.483												
BPTF	2186	broad.mit.edu	37	17	65905705	65905705	+	Silent	SNP	T	T	C			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr17:65905705T>C	uc002jgf.2	+	10	2881	c.2820T>C	c.(2818-2820)AAT>AAC	p.N940N	BPTF_uc002jge.2_Silent_p.N1066N	NM_182641	NP_872579	Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	1066					brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|zinc ion binding			ovary(2)|skin(2)	4	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			TAGCCAAAAATAATATGGATG	0.279												
ABCA8	10351	broad.mit.edu	37	17	66898920	66898920	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr17:66898920A>G	uc002jhp.2	-	19	2757	c.2578T>C	c.(2578-2580)TAT>CAT	p.Y860H	ABCA8_uc002jhq.2_Missense_Mutation_p.Y900H|ABCA8_uc010wqq.1_Missense_Mutation_p.Y900H|ABCA8_uc010wqr.1_Missense_Mutation_p.Y839H|ABCA8_uc002jhr.2_Missense_Mutation_p.Y900H	NM_007168	NP_009099	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A member 8	860						integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			ovary(2)|skin(1)	3	Breast(10;4.56e-13)					GCAAGGAAATACAAATGAGGA	0.378												
ABCA10	10349	broad.mit.edu	37	17	67186554	67186554	+	Silent	SNP	T	T	C			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr17:67186554T>C	uc010dfa.1	-	19	2955	c.2076A>G	c.(2074-2076)ACA>ACG	p.T692T	ABCA10_uc010wqt.1_RNA|ABCA10_uc010dfb.1_Silent_p.T293T	NM_080282	NP_525021	Q8WWZ4	ABCAA_HUMAN	ATP-binding cassette, sub-family A, member 10	692					transport	integral to membrane	ATP binding|ATPase activity			ovary(2)|central_nervous_system(1)|skin(1)	4	Breast(10;6.95e-12)					CATTCAGAGATGTCACTGAAA	0.333												
COG1	9382	broad.mit.edu	37	17	71197647	71197647	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr17:71197647G>A	uc002jjg.2	+	7	1717	c.1681G>A	c.(1681-1683)GCA>ACA	p.A561T	COG1_uc002jjh.2_Missense_Mutation_p.A561T|COG1_uc002jjf.1_Missense_Mutation_p.A561T	NM_018714	NP_061184	Q8WTW3	COG1_HUMAN	component of oligomeric golgi complex 1	561					Golgi organization|intra-Golgi vesicle-mediated transport|protein transport	Golgi membrane|Golgi transport complex	protein binding			ovary(1)	1			LUSC - Lung squamous cell carcinoma(166;0.197)			TGACAGATACGCAGATGCGGG	0.552												
SDK2	54549	broad.mit.edu	37	17	71389790	71389790	+	Silent	SNP	G	G	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr17:71389790G>A	uc010dfm.2	-	27	3807	c.3807C>T	c.(3805-3807)TAC>TAT	p.Y1269Y	SDK2_uc002jjt.3_Silent_p.Y428Y|SDK2_uc010dfn.2_Silent_p.Y948Y	NM_001144952	NP_001138424	Q58EX2	SDK2_HUMAN	sidekick 2	1269	Fibronectin type-III 7.|Extracellular (Potential).				cell adhesion	integral to membrane				ovary(2)	2						CATAGAGCACGTATTTGCCCA	0.617												
TMEM104	54868	broad.mit.edu	37	17	72832458	72832458	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr17:72832458A>G	uc002jls.3	+	10	1285	c.1123A>G	c.(1123-1125)ACC>GCC	p.T375A	TMEM104_uc010wrf.1_Intron|TMEM104_uc010wrg.1_Intron|TMEM104_uc010dfx.2_Missense_Mutation_p.T375A	NM_017728	NP_060198	Q8NE00	TM104_HUMAN	transmembrane protein 104	375	Helical; (Potential).					integral to membrane					0	all_lung(278;0.23)					CATTGCCGTGACCCTGCGCAA	0.647												
GALR2	8811	broad.mit.edu	37	17	74072970	74072970	+	Missense_Mutation	SNP	G	G	A	rs142971884		TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr17:74072970G>A	uc002jqm.1	+	2	703	c.622G>A	c.(622-624)GCG>ACG	p.A208T	ZACN_uc002jqn.2_5'Flank|ZACN_uc002jqo.2_5'Flank|ZACN_uc010dgu.2_5'Flank	NM_003857	NP_003848	O43603	GALR2_HUMAN	galanin receptor 2	208	Helical; Name=5; (Potential).				digestion|elevation of cytosolic calcium ion concentration|feeding behavior|learning or memory|muscle contraction	integral to membrane|plasma membrane	galanin receptor activity				0						CCTGACCTACGCGCGCACCTT	0.697												
SEC14L1	6397	broad.mit.edu	37	17	75196727	75196727	+	Silent	SNP	C	C	T	rs143920033		TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr17:75196727C>T	uc002jto.2	+	9	1248	c.981C>T	c.(979-981)TAC>TAT	p.Y327Y	SEC14L1_uc010dhc.2_Silent_p.Y327Y|SEC14L1_uc010wth.1_Silent_p.Y327Y|SEC14L1_uc002jtm.2_Silent_p.Y327Y|SEC14L1_uc010wti.1_Silent_p.Y293Y	NM_003003	NP_002994	Q92503	S14L1_HUMAN	SEC14 (S. cerevisiae)-like 1 isoform a	327	CRAL-TRIO.				transport	Golgi apparatus|integral to membrane	binding			ovary(2)	2						AGGATTACTACGCGGGAGGCT	0.493												
TNRC6C	57690	broad.mit.edu	37	17	76073380	76073380	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr17:76073380G>A	uc002jud.2	+	10	3775	c.3175G>A	c.(3175-3177)GGG>AGG	p.G1059R	TNRC6C_uc002juf.2_Missense_Mutation_p.G1056R|TNRC6C_uc002jue.2_Missense_Mutation_p.G1056R	NM_018996	NP_061869	Q9HCJ0	TNR6C_HUMAN	trinucleotide repeat containing 6C isoform 2	1059					gene silencing by RNA|regulation of translation		nucleotide binding|RNA binding			ovary(1)|central_nervous_system(1)	2			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			GATTGCCTCCGGGCTGGGCAT	0.527												
RNF213	57674	broad.mit.edu	37	17	78341838	78341838	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr17:78341838G>A	uc002jyh.1	+	19	6492	c.6269G>A	c.(6268-6270)TGC>TAC	p.C2090Y	uc002jyi.1_Intron|RNF213_uc010dhw.1_Missense_Mutation_p.C472Y	NM_020914	NP_065965	Q9HCF4	ALO17_HUMAN	ring finger protein 213	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_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)			CACGTGCACTGCCTGCGCTGC	0.567												
AZI1	22994	broad.mit.edu	37	17	79171622	79171622	+	Missense_Mutation	SNP	C	C	T	rs144147050		TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr17:79171622C>T	uc002jzp.1	-	13	1746	c.1546G>A	c.(1546-1548)GAA>AAA	p.E516K	AZI1_uc002jzm.1_5'Flank|AZI1_uc002jzn.1_Missense_Mutation_p.E513K|AZI1_uc002jzo.1_Missense_Mutation_p.E513K|AZI1_uc010wum.1_Missense_Mutation_p.E516K	NM_014984	NP_055799	Q9UPN4	AZI1_HUMAN	5-azacytidine induced 1 isoform a	516					cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis	centrosome|cytosol|intracellular membrane-bounded organelle				central_nervous_system(2)|large_intestine(1)|ovary(1)	4	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			TCAGGAGGTTCGGGGAACGCA	0.567												
RAB40B	10966	broad.mit.edu	37	17	80617530	80617530	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr17:80617530C>T	uc002kft.2	-	4	394	c.268G>A	c.(268-270)GTG>ATG	p.V90M	RAB40B_uc002kfs.2_RNA	NM_006822	NP_006813	Q12829	RB40B_HUMAN	RAB40B, member RAS oncogene family	90					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding			central_nervous_system(1)	1	Breast(20;0.00132)|all_neural(118;0.0952)	all_cancers(8;0.072)|all_epithelial(8;0.139)	BRCA - Breast invasive adenocarcinoma(99;0.0262)|OV - Ovarian serous cystadenocarcinoma(97;0.061)			ACCAGGATCACACCCTGGGGG	0.502												
FN3KRP	79672	broad.mit.edu	37	17	80684826	80684826	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr17:80684826T>C	uc002kfu.2	+	6	759	c.709T>C	c.(709-711)TCT>CCT	p.S237P	FN3KRP_uc010wvr.1_Missense_Mutation_p.S187P	NM_024619	NP_078895	Q9HA64	KT3K_HUMAN	fructosamine 3 kinase related protein	237							kinase activity				0	Breast(20;0.000523)|all_neural(118;0.0952)		BRCA - Breast invasive adenocarcinoma(99;0.0344)|OV - Ovarian serous cystadenocarcinoma(97;0.061)			TGACCCAGCTTCTTTCTACGG	0.557												
TBCD	6904	broad.mit.edu	37	17	80861316	80861316	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr17:80861316A>G	uc002kfz.2	+	19	1896	c.1766A>G	c.(1765-1767)AAC>AGC	p.N589S	TBCD_uc002kfx.1_Missense_Mutation_p.N572S|TBCD_uc002kfy.1_Missense_Mutation_p.N589S|TBCD_uc002kgb.1_5'UTR	NM_005993	NP_005984	Q9BTW9	TBCD_HUMAN	beta-tubulin cofactor D	589	HEAT 2.				'de novo' posttranslational protein folding|adherens junction assembly|negative regulation of cell-substrate adhesion|negative regulation of microtubule polymerization|post-chaperonin tubulin folding pathway|tight junction assembly	adherens junction|cytoplasm|lateral plasma membrane|microtubule|tight junction	beta-tubulin binding|chaperone binding|GTPase activator activity				0	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0266)|all_epithelial(8;0.0696)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.18)			GCGCTGCACAACCTGGCCCAG	0.572												
KIAA0802	23255	broad.mit.edu	37	18	8824732	8824732	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr18:8824732G>A	uc002knr.2	+	15	3366	c.3224G>A	c.(3223-3225)CGT>CAT	p.R1075H	KIAA0802_uc002knq.2_Missense_Mutation_p.R1034H|KIAA0802_uc002kns.2_Missense_Mutation_p.R415H	NM_015210	NP_056025	Q9Y4B5	CC165_HUMAN	hypothetical protein LOC23255	1385											0						GAGTTCCAGCGTCTAATGGAC	0.592												
PPP4R1	9989	broad.mit.edu	37	18	9559564	9559564	+	Silent	SNP	A	A	G			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr18:9559564A>G	uc002koe.1	-	14	1999	c.1881T>C	c.(1879-1881)TCT>TCC	p.S627S	PPP4R1_uc002kof.2_Silent_p.S44S|PPP4R1_uc010wzo.1_Silent_p.S473S|PPP4R1_uc002kod.1_Silent_p.S610S|PPP4R1_uc010wzp.1_RNA	NM_001042388	NP_001035847	Q8TF05	PP4R1_HUMAN	protein phosphatase 4, regulatory subunit 1	627					protein phosphorylation|signal transduction	protein phosphatase 4 complex	protein binding|protein phosphatase type 4 regulator activity			skin(1)	1						GGTCAGTCATAGATAAATACT	0.458												
ROCK1	6093	broad.mit.edu	37	18	18624112	18624112	+	Missense_Mutation	SNP	G	G	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr18:18624112G>T	uc002kte.2	-	6	1567	c.626C>A	c.(625-627)TCT>TAT	p.S209Y		NM_005406	NP_005397	Q13464	ROCK1_HUMAN	Rho-associated, coiled-coil containing protein	209	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)					CAAATGTCCAGATTTATCCAG	0.313												
OSBPL1A	114876	broad.mit.edu	37	18	21912999	21912999	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr18:21912999T>C	uc002kve.2	-	7	706	c.532A>G	c.(532-534)ACA>GCA	p.T178A		NM_080597	NP_542164	Q9BXW6	OSBL1_HUMAN	oxysterol-binding protein-like 1A isoform B	178	ANK 3.				cholesterol metabolic process|lipid transport|vesicle-mediated transport		phospholipid binding			ovary(4)	4	all_cancers(21;0.000396)|all_epithelial(16;4.36e-06)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0505)|Ovarian(20;0.17)					TGCAAGGGTGTATTTCCTAAC	0.393												
ZNF521	25925	broad.mit.edu	37	18	22806757	22806757	+	Silent	SNP	C	C	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr18:22806757C>T	uc002kvk.2	-	4	1372	c.1125G>A	c.(1123-1125)CCG>CCA	p.P375P	ZNF521_uc010xbe.1_RNA|ZNF521_uc010dly.2_Silent_p.P375P|ZNF521_uc002kvl.2_Silent_p.P155P	NM_015461	NP_056276	Q96K83	ZN521_HUMAN	zinc finger protein 521	375					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)					TTGGGATTGGCGGGGCAGCTT	0.547			T	PAX5	ALL							
PSMA8	143471	broad.mit.edu	37	18	23758861	23758861	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr18:23758861C>T	uc002kvq.2	+	5	677	c.563C>T	c.(562-564)GCC>GTC	p.A188V	PSMA8_uc002kvo.2_Missense_Mutation_p.A144V|PSMA8_uc002kvp.2_Missense_Mutation_p.A182V|PSMA8_uc002kvr.2_Missense_Mutation_p.A156V	NM_144662	NP_653263	Q8TAA3	PSA7L_HUMAN	proteasome alpha 8 subunit isoform 1	188					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|M/G1 transition of mitotic cell cycle|mRNA metabolic process|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 core complex, alpha-subunit complex	threonine-type endopeptidase activity			skin(1)	1	all_cancers(21;0.000585)|Lung NSC(5;0.00148)|all_lung(6;0.0038)|Ovarian(20;0.124)		OV - Ovarian serous cystadenocarcinoma(3;0.000324)|all cancers(3;0.000954)|LUSC - Lung squamous cell carcinoma(2;0.181)			ACAGAAGATGCCATAGCAAGT	0.308												
TTR	7276	broad.mit.edu	37	18	29171922	29171922	+	Missense_Mutation	SNP	G	G	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr18:29171922G>T	uc002kwx.3	+	1	193	c.57G>T	c.(55-57)GAG>GAT	p.E19D		NM_000371	NP_000362	P02766	TTHY_HUMAN	transthyretin precursor	19					transport	cytoplasm	hormone activity			ovary(1)	1			OV - Ovarian serous cystadenocarcinoma(10;0.00523)		Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Diflunisal(DB00861)|Dimethyl sulfoxide(DB01093)|Levothyroxine(DB00451)|Liothyronine(DB00279)	TTGTGTCTGAGGCTGGCCCTA	0.507												
B4GALT6	9331	broad.mit.edu	37	18	29264301	29264301	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr18:29264301T>C	uc002kwz.3	-	1	386	c.89A>G	c.(88-90)TAC>TGC	p.Y30C	B4GALT6_uc010dma.2_Missense_Mutation_p.Y30C|B4GALT6_uc010dmb.2_Missense_Mutation_p.Y30C	NM_004775	NP_004766	Q9UBX8	B4GT6_HUMAN	beta-1,4-galactosyltransferase 6	30	Helical; Signal-anchor for type II membrane protein; (Potential).				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	metal ion binding				0			OV - Ovarian serous cystadenocarcinoma(10;0.00791)			ATAGATGAAGTACAGACAGGA	0.557												
KLHL14	57565	broad.mit.edu	37	18	30350456	30350456	+	Silent	SNP	G	G	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr18:30350456G>A	uc002kxm.1	-	2	487	c.99C>T	c.(97-99)TGC>TGT	p.C33C		NM_020805	NP_065856	Q9P2G3	KLH14_HUMAN	kelch-like 14	33	BTB.					cytosol|endoplasmic reticulum membrane				ovary(1)	1						GGGTCACGTCGCAAAACAGCT	0.642												
MOCOS	55034	broad.mit.edu	37	18	33795823	33795823	+	Silent	SNP	C	C	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr18:33795823C>T	uc002kzq.3	+	8	1703	c.1680C>T	c.(1678-1680)GTC>GTT	p.V560V		NM_017947	NP_060417	Q96EN8	MOCOS_HUMAN	molybdenum cofactor sulfurase	560					Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol	lyase activity|Mo-molybdopterin cofactor sulfurase activity|molybdenum ion binding|pyridoxal phosphate binding			skin(1)	1					Pyridoxal Phosphate(DB00114)	TGTGTGATGTCGCCAGAACCC	0.552												
MOCOS	55034	broad.mit.edu	37	18	33831236	33831236	+	Silent	SNP	A	A	G			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr18:33831236A>G	uc002kzq.3	+	11	2177	c.2154A>G	c.(2152-2154)AAA>AAG	p.K718K		NM_017947	NP_060417	Q96EN8	MOCOS_HUMAN	molybdenum cofactor sulfurase	718	MOSC.				Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol	lyase activity|Mo-molybdopterin cofactor sulfurase activity|molybdenum ion binding|pyridoxal phosphate binding			skin(1)	1					Pyridoxal Phosphate(DB00114)	CAAAGAAGAAACATGGAAAAG	0.398												
CELF4	56853	broad.mit.edu	37	18	34853109	34853109	+	Silent	SNP	C	C	T	rs145932686		TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr18:34853109C>T	uc002lae.2	-	7	1215	c.819G>A	c.(817-819)GCG>GCA	p.A273A	CELF4_uc010dnd.1_Silent_p.A271A|CELF4_uc002lag.2_Silent_p.A263A|CELF4_uc002laf.2_Silent_p.A268A|CELF4_uc002lai.2_Silent_p.A258A|CELF4_uc002lah.1_5'UTR|CELF4_uc002laj.1_Missense_Mutation_p.G109S	NM_020180	NP_064565	Q9BZC1	CELF4_HUMAN	bruno-like 4, RNA binding protein isoform 1	273	Sufficient for RNA-binding and MSE- dependent splicing activity.|Ala-rich.				embryo development|germ cell development|regulation of alternative nuclear mRNA splicing, via spliceosome	cytoplasm|nucleus	BRE binding|nucleotide binding|translation repressor activity, nucleic acid binding			ovary(2)	2						CCATCAGGGCCGCTTGCTGCT	0.637												
CELF4	56853	broad.mit.edu	37	18	35145576	35145576	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr18:35145576T>C	uc002lae.2	-	1	425	c.29A>G	c.(28-30)AAC>AGC	p.N10S	CELF4_uc010dnd.1_Missense_Mutation_p.N10S|CELF4_uc002lag.2_Missense_Mutation_p.N10S|CELF4_uc002laf.2_Missense_Mutation_p.N6S|CELF4_uc002lai.2_Missense_Mutation_p.N6S	NM_020180	NP_064565	Q9BZC1	CELF4_HUMAN	bruno-like 4, RNA binding protein isoform 1	10	Sufficient for RNA-binding and MSE- dependent splicing activity.				embryo development|germ cell development|regulation of alternative nuclear mRNA splicing, via spliceosome	cytoplasm|nucleus	BRE binding|nucleotide binding|translation repressor activity, nucleic acid binding			ovary(2)	2						AGCCTGTCCGTTTGCTAACGT	0.557												
TCEB3B	51224	broad.mit.edu	37	18	44560392	44560392	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr18:44560392T>C	uc002lcr.1	-	1	1597	c.1244A>G	c.(1243-1245)AAC>AGC	p.N415S	KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.2_Intron|KATNAL2_uc002lcp.3_Intron	NM_016427	NP_057511	Q8IYF1	ELOA2_HUMAN	elongin A2	415					regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding			ovary(2)|large_intestine(1)|pancreas(1)	4						CTTGGATTCGTTTGCTTTCCT	0.502												
KIAA0427	9811	broad.mit.edu	37	18	46385824	46385824	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr18:46385824G>A	uc002ldc.2	+	12	1976	c.1691G>A	c.(1690-1692)CGG>CAG	p.R564Q	KIAA0427_uc002ldd.2_Missense_Mutation_p.R566Q|KIAA0427_uc002lde.3_Missense_Mutation_p.R193Q	NM_014772	NP_055587	O43310	CTIF_HUMAN	hypothetical protein LOC9811 isoform 1	564	MIF4G.				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational initiation	perinuclear region of cytoplasm	protein binding	p.R564Q(1)			0						ATGCTGACCCGGTCGCTGCTC	0.602												
LIPG	9388	broad.mit.edu	37	18	47110076	47110076	+	Silent	SNP	A	A	G			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr18:47110076A>G	uc002ldv.2	+	8	1560	c.1308A>G	c.(1306-1308)CAA>CAG	p.Q436Q	LIPG_uc010xdh.1_Silent_p.Q362Q	NM_006033	NP_006024	Q9Y5X9	LIPE_HUMAN	endothelial lipase precursor	436	PLAT.				cholesterol homeostasis|high-density lipoprotein particle remodeling|phospholipid catabolic process|phospholipid homeostasis|positive regulation of cholesterol transport|positive regulation of high-density lipoprotein particle clearance|reverse cholesterol transport	extracellular space	heparin binding|lipoprotein lipase activity|phospholipase A1 activity|protein binding|triglyceride lipase activity			ovary(1)|skin(1)	2						ACCTGTCTCAACCCCGCAACC	0.587												
MBD1	4152	broad.mit.edu	37	18	47803030	47803030	+	Splice_Site	SNP	A	A	G			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr18:47803030A>G	uc010dow.1	-	5	912	c.475_splice	c.e5+1	p.A159_splice	MBD1_uc002lef.2_Splice_Site|MBD1_uc002leg.2_Splice_Site_p.A159_splice|MBD1_uc010xdi.1_Splice_Site_p.A185_splice|MBD1_uc002leh.3_Splice_Site_p.A159_splice|MBD1_uc002len.2_Splice_Site_p.A159_splice|MBD1_uc002lei.3_Splice_Site_p.A159_splice|MBD1_uc002lej.3_Splice_Site_p.A159_splice|MBD1_uc002lek.3_Splice_Site_p.A159_splice|MBD1_uc002lel.3_Splice_Site_p.A159_splice|MBD1_uc002lem.3_Splice_Site_p.A159_splice|MBD1_uc010xdj.1_Splice_Site_p.A159_splice|MBD1_uc010xdk.1_Splice_Site_p.A159_splice|MBD1_uc010dox.1_Splice_Site_p.A159_splice|MBD1_uc002leo.2_Splice_Site_p.A159_splice	NM_015846	NP_056671	Q9UIS9	MBD1_HUMAN	methyl-CpG binding domain protein 1 isoform 1						negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|nuclear speck	methyl-CpG binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2						GAGGCCACTCACCTCGACAGT	0.567												
LMAN1	3998	broad.mit.edu	37	18	57020469	57020469	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr18:57020469G>A	uc002lhz.2	-	5	636	c.604C>T	c.(604-606)CGA>TGA	p.R202*	LMAN1_uc010xek.1_Nonsense_Mutation_p.R202*	NM_005570	NP_005561	P49257	LMAN1_HUMAN	lectin, mannose-binding, 1 precursor	202	Lumenal (Potential).|L-type lectin-like.				blood coagulation|ER to Golgi vesicle-mediated transport|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|protein transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane	mannose binding|metal ion binding|unfolded protein binding			skin(1)	1		Colorectal(73;0.0946)			Antihemophilic Factor(DB00025)	ATCTTTGCTCGGACAGGATAG	0.408												
TNFRSF11A	8792	broad.mit.edu	37	18	60035961	60035961	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr18:60035961A>G	uc002lin.2	+	9	849	c.811A>G	c.(811-813)ACA>GCA	p.T271A	TNFRSF11A_uc010dpv.2_Intron	NM_003839	NP_003830	Q9Y6Q6	TNR11_HUMAN	tumor necrosis factor receptor superfamily,	271	Cytoplasmic (Potential).				adaptive immune response|cell-cell signaling|circadian temperature homeostasis|monocyte chemotaxis|osteoclast differentiation|positive regulation of cell proliferation|positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling|positive regulation of fever generation by positive regulation of prostaglandin secretion|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|response to interleukin-1|response to lipopolysaccharide	external side of plasma membrane|integral to membrane	metal ion binding|tumor necrosis factor receptor activity			breast(2)|lung(1)	3		Colorectal(73;0.188)				TTGTGTCAGTACACACACGGC	0.453									Paget_Disease_of_Bone			
VPS4B	9525	broad.mit.edu	37	18	61067280	61067280	+	Splice_Site	SNP	C	C	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr18:61067280C>T	uc002lix.2	-	7	1050	c.790_splice	c.e7+1	p.G264_splice	VPS4B_uc010dpx.2_Splice_Site_p.G264_splice|VPS4B_uc010dpy.2_Splice_Site_p.G146_splice|VPS4B_uc010dpz.1_Splice_Site_p.G146_splice	NM_004869	NP_004860	O75351	VPS4B_HUMAN	vacuolar protein sorting factor 4B						cell cycle|cell division|cellular membrane organization|endosome to lysosome transport via multivesicular body sorting pathway|intracellular cholesterol transport|protein transport|response to lipid	cytosol|early endosome|late endosome membrane|lysosome|nucleus|vacuolar membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding			ovary(1)	1						AGTAACACTACCTTGCATTTG	0.214												
CDH7	1005	broad.mit.edu	37	18	63529940	63529940	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr18:63529940C>T	uc002ljz.2	+	11	1976	c.1651C>T	c.(1651-1653)CGG>TGG	p.R551W	CDH7_uc002lka.2_Missense_Mutation_p.R551W|CDH7_uc002lkb.2_Missense_Mutation_p.R551W	NM_033646	NP_387450	Q9ULB5	CADH7_HUMAN	cadherin 7, type 2 preproprotein	551	Extracellular (Potential).|Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)|pancreas(1)|skin(1)	4		Esophageal squamous(42;0.129)				AAACGGCTTCCGGAGACAGGA	0.458												
CCDC102B	79839	broad.mit.edu	37	18	66678242	66678242	+	Silent	SNP	T	T	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr18:66678242T>A	uc002lkk.2	+	9	1558	c.1335T>A	c.(1333-1335)ACT>ACA	p.T445T	CCDC102B_uc002lki.2_Silent_p.T445T	NM_001093729	NP_001087198	Q68D86	C102B_HUMAN	coiled-coil domain containing 102B	445	Potential.									ovary(1)|lung(1)|skin(1)	3		Esophageal squamous(42;0.0559)|Colorectal(73;0.0604)				CAGAACTGACTCATGCAAACA	0.353												
RTTN	25914	broad.mit.edu	37	18	67755348	67755348	+	Silent	SNP	C	C	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr18:67755348C>T	uc002lkp.2	-	31	4247	c.4179G>A	c.(4177-4179)CTG>CTA	p.L1393L	RTTN_uc002lko.2_RNA|RTTN_uc010xfb.1_Silent_p.L481L	NM_173630	NP_775901	Q86VV8	RTTN_HUMAN	rotatin	1393							binding			ovary(3)|pancreas(2)|skin(1)|breast(1)|central_nervous_system(1)	8		Esophageal squamous(42;0.129)				CAAGGGTGGTCAGTGCTGATC	0.438												
CTDP1	9150	broad.mit.edu	37	18	77470424	77470424	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr18:77470424C>T	uc002lnh.1	+	6	998	c.851C>T	c.(850-852)ACG>ATG	p.T284M	CTDP1_uc002lni.1_Missense_Mutation_p.T284M|CTDP1_uc010drd.1_Missense_Mutation_p.T284M	NM_004715	NP_004706	Q9Y5B0	CTDP1_HUMAN	CTD (carboxy-terminal domain, RNA polymerase II,	284	FCP1 homology.				positive regulation of viral transcription|protein dephosphorylation|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	CTD phosphatase activity|DNA-directed RNA polymerase activity				0		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;5.2e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0277)		TTTTCTAAAACGGGAAACCTT	0.398												
C19orf21	126353	broad.mit.edu	37	19	757730	757730	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr19:757730C>T	uc002lpo.2	+	2	867	c.784C>T	c.(784-786)CGT>TGT	p.R262C		NM_173481	NP_775752	Q8IVT2	CS021_HUMAN	hypothetical protein LOC126353	262										upper_aerodigestive_tract(1)	1		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000145)|all_lung(49;0.000236)|Breast(49;0.0014)		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)		GAACAAGGTGCGTGCTGTGCC	0.657												
ELANE	1991	broad.mit.edu	37	19	856072	856072	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr19:856072T>C	uc002lqb.2	+	5	750	c.712T>C	c.(712-714)TTT>CTT	p.F238L		NM_001972	NP_001963	P08246	ELNE_HUMAN	neutrophil elastase preproprotein	238	Peptidase S1.				cellular calcium ion homeostasis|negative regulation of chemokine biosynthetic process|negative regulation of chemotaxis|negative regulation of inflammatory response|negative regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of MAP kinase activity|positive regulation of smooth muscle cell proliferation|protein catabolic process|proteolysis|response to UV	cell surface|extracellular region|stored secretory granule	bacterial cell surface binding|cytokine binding|heparin binding			pancreas(1)	1					Alpha-1-proteinase inhibitor(DB00058)|Filgrastim(DB00099)|Pegfilgrastim(DB00019)	GGTGGCACAGTTTGTAAACTG	0.642									Kostmann_syndrome			
MED16	10025	broad.mit.edu	37	19	889762	889762	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr19:889762C>T	uc002lqd.1	-	4	474	c.323G>A	c.(322-324)TGG>TAG	p.W108*	MED16_uc002lqe.2_Nonsense_Mutation_p.W97*|MED16_uc002lqf.2_Nonsense_Mutation_p.W97*|MED16_uc010xfv.1_Intron|MED16_uc010xfw.1_Nonsense_Mutation_p.W97*|MED16_uc010xfx.1_Nonsense_Mutation_p.W97*|MED16_uc010xfy.1_Nonsense_Mutation_p.W97*	NM_005481	NP_005472	Q9Y2X0	MED16_HUMAN	mediator complex subunit 16	108	WD 1.				androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	receptor activity|thyroid hormone receptor binding|thyroid hormone receptor coactivator activity|vitamin D receptor binding				0		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CGCCATGCTCCAGCACTTGAT	0.622												
REXO1	57455	broad.mit.edu	37	19	1828587	1828587	+	Silent	SNP	G	G	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr19:1828587G>A	uc002lua.3	-	2	296	c.201C>T	c.(199-201)CCC>CCT	p.P67P	REXO1_uc010dsr.1_Silent_p.P21P	NM_020695	NP_065746	Q8N1G1	REXO1_HUMAN	transcription elongation factor B polypeptide 3	67						nucleus	exonuclease activity|nucleic acid binding				0		Ovarian(11;1.78e-06)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCCTCTGCGCGGGGGGCTTGG	0.677												
KLF16	83855	broad.mit.edu	37	19	1854753	1854753	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr19:1854753C>T	uc002luc.2	-	2	532	c.464G>A	c.(463-465)CGC>CAC	p.R155H	KLF16_uc010xgt.1_RNA	NM_031918	NP_114124	Q9BXK1	KLF16_HUMAN	BTE-binding protein 4	155						nucleus	DNA binding|zinc ion binding				0		Ovarian(11;1.78e-06)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGCAAAAGGGCGTTCCCCTGG	0.657												
DOT1L	84444	broad.mit.edu	37	19	2210737	2210737	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr19:2210737G>A	uc002lvb.3	+	14	1270	c.1234G>A	c.(1234-1236)GGG>AGG	p.G412R	DOT1L_uc002lvc.1_5'Flank	NM_032482	NP_115871	Q8TEK3	DOT1L_HUMAN	DOT1-like, histone H3 methyltransferase	412	Required for interaction with nucleosomes and DNA.					nucleus	DNA binding|histone-lysine N-methyltransferase activity|protein binding			pancreas(2)|upper_aerodigestive_tract(1)|lung(1)	4		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)		CCGCAAGCGCGGGCGCCCCAA	0.607												
AMH	268	broad.mit.edu	37	19	2249524	2249524	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr19:2249524G>A	uc002lvh.2	+	1	412	c.193G>A	c.(193-195)GGC>AGC	p.G65S	hsa-mir-4321|MI0015852_5'Flank	NM_000479	NP_000470	P03971	MIS_HUMAN	anti-Mullerian hormone precursor	65					cell differentiation|cell-cell signaling|gonadal mesoderm development|Mullerian duct regression|positive regulation of gene expression|sex determination	extracellular space	growth factor activity|hormone activity				0		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)		GGACAGCAATGGCAGCAGCTC	0.692									Persistant_Mullerian_Duct_Syndrome_(type_I_and_II)			
TBXA2R	6915	broad.mit.edu	37	19	3600213	3600213	+	Silent	SNP	G	G	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr19:3600213G>A	uc002lyg.1	-	2	634	c.420C>T	c.(418-420)CGC>CGT	p.R140R	TBXA2R_uc002lye.1_Intron	NM_001060	NP_001051	P21731	TA2R_HUMAN	thromboxane A2 receptor isoform alpha	140	Cytoplasmic (Potential).				platelet activation	integral to plasma membrane	guanyl-nucleotide exchange factor activity|protein binding|thromboxane A2 receptor activity				0		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)	Ridogrel(DB01207)	CGACCGCCGGGCGCGAGAAGG	0.746												
TBXA2R	6915	broad.mit.edu	37	19	3600354	3600354	+	Silent	SNP	G	G	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr19:3600354G>A	uc002lyg.1	-	2	493	c.279C>T	c.(277-279)TTC>TTT	p.F93F	TBXA2R_uc002lye.1_Silent_p.F93F	NM_001060	NP_001051	P21731	TA2R_HUMAN	thromboxane A2 receptor isoform alpha	93	Extracellular (Potential).				platelet activation	integral to plasma membrane	guanyl-nucleotide exchange factor activity|protein binding|thromboxane A2 receptor activity				0		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)	Ridogrel(DB01207)	CGTGCCACTCGAAGAGCGCGG	0.672												
TBXA2R	6915	broad.mit.edu	37	19	3600562	3600562	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr19:3600562A>G	uc002lyg.1	-	2	285	c.71T>C	c.(70-72)CTG>CCG	p.L24P	TBXA2R_uc002lye.1_Missense_Mutation_p.L24P	NM_001060	NP_001051	P21731	TA2R_HUMAN	thromboxane A2 receptor isoform alpha	24	Extracellular (Potential).				platelet activation	integral to plasma membrane	guanyl-nucleotide exchange factor activity|protein binding|thromboxane A2 receptor activity				0		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)	Ridogrel(DB01207)	CGAGGCGATCAGCCGTCTCTC	0.692												
PIP5K1C	23396	broad.mit.edu	37	19	3633494	3633494	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr19:3633494A>G	uc002lyj.1	-	17	2002	c.1945T>C	c.(1945-1947)TAC>CAC	p.Y649H	PIP5K1C_uc010xhq.1_Intron	NM_012398	NP_036530	O60331	PI51C_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type	649	Mediates interaction with TLN2.				axon guidance	cytosol|plasma membrane	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding			stomach(2)|skin(2)	4		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.95e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0026)|STAD - Stomach adenocarcinoma(1328;0.183)		AGCGGGGAGTACACCCAGCTC	0.706												
PIP5K1C	23396	broad.mit.edu	37	19	3638999	3638999	+	Silent	SNP	C	C	T	rs146725634		TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr19:3638999C>T	uc002lyj.1	-	16	1860	c.1803G>A	c.(1801-1803)CCG>CCA	p.P601P	PIP5K1C_uc010xhq.1_Silent_p.P601P|PIP5K1C_uc010xhr.1_Silent_p.P601P	NM_012398	NP_036530	O60331	PI51C_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type	601					axon guidance	cytosol|plasma membrane	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding			stomach(2)|skin(2)	4		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.95e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0026)|STAD - Stomach adenocarcinoma(1328;0.183)		AGGCACCGGCCGGGGAAGCCT	0.697												
EEF2	1938	broad.mit.edu	37	19	3977575	3977575	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr19:3977575G>A	uc002lze.2	-	13	2184	c.2101C>T	c.(2101-2103)CGC>TGC	p.R701C		NM_001961	NP_001952	P13639	EF2_HUMAN	eukaryotic translation elongation factor 2	701						cytosol|ribonucleoprotein complex	GTP binding|GTPase activity|protein binding|translation elongation factor activity				0		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|GBM - Glioblastoma multiforme(1328;0.0223)|STAD - Stomach adenocarcinoma(1328;0.18)		ACGTCGAAGCGCACACCCCGC	0.682												
FSD1	79187	broad.mit.edu	37	19	4318416	4318416	+	Silent	SNP	C	C	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr19:4318416C>T	uc002lzy.2	+	9	1026	c.873C>T	c.(871-873)GAC>GAT	p.D291D	FSD1_uc002lzz.2_Silent_p.D291D|FSD1_uc002maa.2_Silent_p.D104D	NM_024333	NP_077309	Q9BTV5	FSD1_HUMAN	fibronectin type III and SPRY domain containing	291	B30.2/SPRY.				cell division|mitosis	cleavage furrow|microtubule|microtubule organizing center|nucleus				skin(1)	1				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.034)|STAD - Stomach adenocarcinoma(1328;0.18)		TGGAGTGGGACGCTATGGGCG	0.572												
SH3GL1	6455	broad.mit.edu	37	19	4366969	4366969	+	Missense_Mutation	SNP	C	C	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr19:4366969C>A	uc002maj.2	-	2	174	c.68G>T	c.(67-69)GGG>GTG	p.G23V	SH3GL1_uc002mak.2_Missense_Mutation_p.G23V|SH3GL1_uc010xig.1_Missense_Mutation_p.G23V	NM_003025	NP_003016	Q99961	SH3G1_HUMAN	SH3-domain GRB2-like 1	23	BAR.				central nervous system development|endocytosis|signal transduction	early endosome membrane	lipid binding|protein binding			ovary(2)	2				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0152)|STAD - Stomach adenocarcinoma(1328;0.182)		CCCCTCGGCCCCTCCGACCTT	0.597			T	MLL	AL							
PTPRS	5802	broad.mit.edu	37	19	5231328	5231328	+	Silent	SNP	G	G	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr19:5231328G>A	uc002mbv.2	-	14	2382	c.2148C>T	c.(2146-2148)GAC>GAT	p.D716D	PTPRS_uc002mbu.1_Intron|PTPRS_uc010xin.1_Intron|PTPRS_uc002mbw.2_Silent_p.D703D|PTPRS_uc002mbx.2_Intron|PTPRS_uc002mby.2_Intron	NM_002850	NP_002841	Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type,	716	Extracellular (Potential).				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)		TACCATCCTCGTCGGTGCGGA	0.682												
PTPRS	5802	broad.mit.edu	37	19	5258116	5258116	+	Silent	SNP	A	A	G			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr19:5258116A>G	uc002mbv.2	-	8	852	c.618T>C	c.(616-618)AGT>AGC	p.S206S	PTPRS_uc002mbu.1_Silent_p.S197S|PTPRS_uc010xin.1_Silent_p.S197S|PTPRS_uc002mbw.2_Silent_p.S197S|PTPRS_uc002mbx.2_Silent_p.S197S|PTPRS_uc002mby.2_Silent_p.S197S	NM_002850	NP_002841	Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type,	206	Extracellular (Potential).|Ig-like C2-type 2.				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)		CGGTTTCCTCACTGCTTTCAA	0.592												
DUS3L	56931	broad.mit.edu	37	19	5785423	5785423	+	Silent	SNP	G	G	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr19:5785423G>A	uc002mdc.2	-	12	1948	c.1851C>T	c.(1849-1851)AGC>AGT	p.S617S	PRR22_uc002mdb.1_5'Flank|PRR22_uc010xiv.1_5'Flank|DUS3L_uc002mdd.2_Silent_p.S375S|DUS3L_uc010duk.2_Silent_p.S282S	NM_020175	NP_064560	Q96G46	DUS3L_HUMAN	dihydrouridine synthase 3-like isoform 1	617					tRNA processing		flavin adenine dinucleotide binding|nucleic acid binding|tRNA dihydrouridine synthase activity|zinc ion binding				0						CTGCCTTCTGGCTGGCCATCA	0.687												
RANBP3	8498	broad.mit.edu	37	19	5918577	5918577	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr19:5918577G>A	uc002mdw.2	-	15	1630	c.1403C>T	c.(1402-1404)GCC>GTC	p.A468V	RANBP3_uc002mdv.2_Missense_Mutation_p.A187V|RANBP3_uc002mdx.2_Missense_Mutation_p.A463V|RANBP3_uc002mdy.2_Missense_Mutation_p.A400V|RANBP3_uc002mdz.2_Missense_Mutation_p.A395V|RANBP3_uc010duq.2_Missense_Mutation_p.A373V|RANBP3_uc002mea.2_Missense_Mutation_p.A335V|RANBP3_uc010xix.1_Missense_Mutation_p.A340V	NM_007322	NP_015561	Q9H6Z4	RANB3_HUMAN	RAN binding protein 3 isoform RANBP3-d	468	RanBD1.				intracellular transport|protein transport	cytoplasm|nucleus	Ran GTPase binding			breast(1)	1						CTTCTCGCTGGCCTTGTCGAT	0.612												
RFX2	5990	broad.mit.edu	37	19	6002856	6002856	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr19:6002856T>C	uc002meb.2	-	14	1795	c.1526A>G	c.(1525-1527)CAG>CGG	p.Q509R	RFX2_uc002mec.2_Missense_Mutation_p.Q484R	NM_000635	NP_000626	P48378	RFX2_HUMAN	regulatory factor X2 isoform a	509					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(4)|ovary(1)|skin(1)	6						CCGCAGCGTCTGGGCGAAGGC	0.667												
VAV1	7409	broad.mit.edu	37	19	6833932	6833932	+	Missense_Mutation	SNP	G	G	A	rs140267055		TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr19:6833932G>A	uc002mfu.1	+	19	1842	c.1745G>A	c.(1744-1746)CGC>CAC	p.R582H	VAV1_uc010xjh.1_Missense_Mutation_p.R550H|VAV1_uc010dva.1_Missense_Mutation_p.R582H|VAV1_uc002mfv.1_Missense_Mutation_p.R527H	NM_005428	NP_005419	P15498	VAV_HUMAN	vav 1 guanine nucleotide exchange factor	582					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|T cell costimulation	cytosol|plasma membrane	metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity			lung(4)|ovary(4)|breast(3)|central_nervous_system(2)|kidney(2)|skin(1)	16						AAACTACATCGCAGGGCTCAG	0.532												
ARHGEF18	23370	broad.mit.edu	37	19	7518514	7518514	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr19:7518514C>T	uc002mgi.2	+	7	1706	c.1453C>T	c.(1453-1455)CTC>TTC	p.L485F	ARHGEF18_uc010xjm.1_Missense_Mutation_p.L327F|ARHGEF18_uc002mgh.2_Missense_Mutation_p.L327F|ARHGEF18_uc002mgj.1_Missense_Mutation_p.L128F	NM_001130955	NP_001124427	Q6ZSZ5	ARHGI_HUMAN	Rho/Rac guanine nucleotide exchange factor 18	485					actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of cell shape|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			ovary(1)	1		Renal(5;0.0902)				CAAGAACGGGCTCACCTTCCG	0.577												
KIAA1543	57662	broad.mit.edu	37	19	7670306	7670306	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr19:7670306C>T	uc002mgv.3	+	2	444	c.343C>T	c.(343-345)CCT>TCT	p.P115S	KIAA1543_uc002mgu.3_Missense_Mutation_p.P115S	NM_020902	NP_065953	Q9P1Y5	CAMP3_HUMAN	NEZHA isoform 2	115					epithelial cell-cell adhesion|microtubule anchoring|regulation of microtubule cytoskeleton organization|zonula adherens maintenance	cytoplasm|microtubule|zonula adherens	microtubule minus-end binding			pancreas(1)	1						GGGCACAGTGCCTGCTTTGCC	0.677												
KIAA1543	57662	broad.mit.edu	37	19	7675616	7675616	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr19:7675616T>C	uc002mgv.3	+	7	1032	c.931T>C	c.(931-933)TTC>CTC	p.F311L	KIAA1543_uc002mgu.3_Missense_Mutation_p.F338L	NM_020902	NP_065953	Q9P1Y5	CAMP3_HUMAN	NEZHA isoform 2	311	CH.				epithelial cell-cell adhesion|microtubule anchoring|regulation of microtubule cytoskeleton organization|zonula adherens maintenance	cytoplasm|microtubule|zonula adherens	microtubule minus-end binding			pancreas(1)	1						GGCCGAGTTGTTCATGTGTTT	0.677												
EVI5L	115704	broad.mit.edu	37	19	7913812	7913812	+	Silent	SNP	G	G	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr19:7913812G>A	uc002min.2	+	4	487	c.333G>A	c.(331-333)CTG>CTA	p.L111L	EVI5L_uc010xjz.1_Silent_p.L111L|EVI5L_uc002mio.1_5'Flank	NM_145245	NP_660288	Q96CN4	EVI5L_HUMAN	ecotropic viral integration site 5-like isoform	111						intracellular	protein binding|Rab GTPase activator activity			ovary(1)	1						GCCAGGAGCTGATCCGCAAGG	0.687												
MAP2K7	5609	broad.mit.edu	37	19	7975205	7975205	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr19:7975205G>A	uc002mit.2	+	4	459	c.394G>A	c.(394-396)GGC>AGC	p.G132S	MAP2K7_uc002miv.2_Missense_Mutation_p.G132S|MAP2K7_uc010xka.1_RNA|MAP2K7_uc010xkb.1_Missense_Mutation_p.G132S|MAP2K7_uc010dvv.2_Missense_Mutation_p.G7S	NM_145185	NP_660186	O14733	MP2K7_HUMAN	mitogen-activated protein kinase kinase 7	132	Protein kinase.|ATP (By similarity).				activation of JUN kinase activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleus	ATP binding|JUN kinase kinase activity|magnesium ion binding|protein binding|protein kinase binding|protein phosphatase binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			large_intestine(7)|central_nervous_system(2)|ovary(1)|lung(1)	11					Etoposide(DB00773)	CGGCACCTGCGGCCAGGTGTG	0.667												
MAP2K7	5609	broad.mit.edu	37	19	7976447	7976447	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr19:7976447T>C	uc002mit.2	+	9	1128	c.1063T>C	c.(1063-1065)TCC>CCC	p.S355P	MAP2K7_uc002miv.2_Missense_Mutation_p.S362P|MAP2K7_uc010xka.1_RNA|MAP2K7_uc010xkb.1_Missense_Mutation_p.S362P|MAP2K7_uc010dvv.2_Missense_Mutation_p.S230P	NM_145185	NP_660186	O14733	MP2K7_HUMAN	mitogen-activated protein kinase kinase 7	355	Protein kinase.				activation of JUN kinase activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleus	ATP binding|JUN kinase kinase activity|magnesium ion binding|protein binding|protein kinase binding|protein phosphatase binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			large_intestine(7)|central_nervous_system(2)|ovary(1)|lung(1)	11					Etoposide(DB00773)	GGACTTCCAGTCCTTCGTCAA	0.602												
FBN3	84467	broad.mit.edu	37	19	8201281	8201281	+	Missense_Mutation	SNP	C	C	T	rs139750989		TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr19:8201281C>T	uc002mjf.2	-	10	1357	c.1336G>A	c.(1336-1338)GAG>AAG	p.E446K		NM_032447	NP_115823	Q75N90	FBN3_HUMAN	fibrillin 3 precursor	446	EGF-like 3.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			ovary(6)|skin(3)|pancreas(1)|central_nervous_system(1)	11						CCAATGCACTCGCCGCGCACG	0.647												
HNRNPM	4670	broad.mit.edu	37	19	8536286	8536286	+	Silent	SNP	C	C	T	rs17179758		TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr19:8536286C>T	uc010dwe.2	+	10	1052	c.972C>T	c.(970-972)ATC>ATT	p.I324I	HNRNPM_uc010dwc.1_Silent_p.I324I|HNRNPM_uc010xke.1_Silent_p.I285I|HNRNPM_uc010dwd.2_Silent_p.I285I|HNRNPM_uc002mka.2_Silent_p.I204I	NM_005968	NP_005959	P52272	HNRPM_HUMAN	heterogeneous nuclear ribonucleoprotein M	324					alternative nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|integral to plasma membrane|nuclear matrix|nucleolus|paraspeckles	nucleotide binding|protein domain specific binding|RNA binding				0						ATAAAGGCATCGGAATGGGAA	0.468												
MUC16	94025	broad.mit.edu	37	19	9066715	9066715	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr19:9066715T>C	uc002mkp.2	-	3	20935	c.20731A>G	c.(20731-20733)ACC>GCC	p.T6911A		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	6913	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						GTGGCCTTGGTTTTTTCTGAG	0.473												
MUC16	94025	broad.mit.edu	37	19	9077648	9077648	+	Silent	SNP	G	G	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr19:9077648G>T	uc002mkp.2	-	3	10002	c.9798C>A	c.(9796-9798)ACC>ACA	p.T3266T		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	3267	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						TTGGTGATGTGGTTCCTGTGG	0.527												
MUC16	94025	broad.mit.edu	37	19	9087145	9087145	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr19:9087145G>A	uc002mkp.2	-	1	4874	c.4670C>T	c.(4669-4671)ACC>ATC	p.T1557I		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	1557	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						TGCAGAAAGGGTGTCCTGTGC	0.488												
OR7G2	390882	broad.mit.edu	37	19	9213067	9213067	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr19:9213067C>T	uc010xkk.1	-	1	916	c.916G>A	c.(916-918)GTG>ATG	p.V306M		NM_001005193	NP_001005193	Q8NG99	OR7G2_HUMAN	olfactory receptor, family 7, subfamily G,	285	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1						AAGGGGTTCACCATTTGAGGG	0.458												
OR7G2	390882	broad.mit.edu	37	19	9213738	9213738	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr19:9213738A>G	uc010xkk.1	-	1	245	c.245T>C	c.(244-246)TTC>TCC	p.F82S		NM_001005193	NP_001005193	Q8NG99	OR7G2_HUMAN	olfactory receptor, family 7, subfamily G,	61	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1						GGAGAGGAAGAAGTACATGGG	0.498												
RDH8	50700	broad.mit.edu	37	19	10132068	10132068	+	Missense_Mutation	SNP	G	G	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr19:10132068G>T	uc002mmr.2	+	5	923	c.674G>T	c.(673-675)AGG>ATG	p.R225M		NM_015725	NP_056540	Q9NYR8	RDH8_HUMAN	retinol dehydrogenase 8 (all-trans)	225					estrogen biosynthetic process|response to stimulus|visual perception	cytoplasm|integral to plasma membrane	binding|estradiol 17-beta-dehydrogenase activity|NADP-retinol dehydrogenase activity|retinol dehydrogenase activity			ovary(3)|pancreas(1)	4			Epithelial(33;4.24e-05)		Vitamin A(DB00162)	CCAGCCTCCAGGAAGCTGTTT	0.592												
PDE4A	5141	broad.mit.edu	37	19	10568615	10568615	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr19:10568615C>T	uc002moj.2	+	8	1046	c.938C>T	c.(937-939)GCG>GTG	p.A313V	PDE4A_uc002mok.2_Missense_Mutation_p.A287V|PDE4A_uc002mol.2_Missense_Mutation_p.A252V|PDE4A_uc002mom.2_Missense_Mutation_p.A74V|PDE4A_uc002mon.2_Intron|PDE4A_uc002moo.2_5'Flank	NM_001111307	NP_001104777	P27815	PDE4A_HUMAN	phosphodiesterase 4A isoform 1	313					signal transduction	cytosol|membrane fraction|perinuclear region of cytoplasm|ruffle membrane|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|protein binding			ovary(1)|breast(1)|central_nervous_system(1)	3			OV - Ovarian serous cystadenocarcinoma(20;5.8e-10)|Epithelial(33;7.58e-07)|all cancers(31;3.91e-06)		Cilostazol(DB01166)|Dipyridamole(DB00975)|Dyphylline(DB00651)|Enprofylline(DB00824)|Iloprost(DB01088)|Milrinone(DB00235)|Pentoxifylline(DB00806)|Phentolamine(DB00692)|Tadalafil(DB00820)|Theophylline(DB00277)	AAACAGCAAGCGCCGCGACCA	0.532												
SLC44A2	57153	broad.mit.edu	37	19	10746171	10746171	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr19:10746171G>A	uc002mpf.2	+	14	1352	c.1213G>A	c.(1213-1215)GCG>ACG	p.A405T	SLC44A2_uc002mpe.3_Missense_Mutation_p.A403T|SLC44A2_uc002mpg.1_Missense_Mutation_p.A125T|SLC44A2_uc002mph.2_5'Flank	NM_020428	NP_065161	Q8IWA5	CTL2_HUMAN	solute carrier family 44, member 2 isoform 1	405	Extracellular (Potential).				positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to membrane|plasma membrane	choline transmembrane transporter activity|signal transducer activity			ovary(1)	1			Epithelial(33;8.7e-06)|all cancers(31;2.77e-05)		Choline(DB00122)	CCCATTTACTGCGAAAACCTG	0.557												
TMED1	11018	broad.mit.edu	37	19	10943855	10943855	+	Missense_Mutation	SNP	C	C	T	rs151223408	byFrequency	TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr19:10943855C>T	uc002mpy.2	-	4	616	c.500G>A	c.(499-501)CGC>CAC	p.R167H	DNM2_uc002mpx.1_3'UTR	NM_006858	NP_006849	Q13445	TMED1_HUMAN	interleukin 1 receptor-like 1 ligand precursor	167	Extracellular (Potential).				cell-cell signaling|signal transduction|transport	integral to membrane|plasma membrane	receptor binding			ovary(2)|breast(1)|central_nervous_system(1)	4						CTGGATGCTGCGCTCCAGCCG	0.617												
C19orf52	90580	broad.mit.edu	37	19	11040108	11040108	+	Silent	SNP	C	C	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr19:11040108C>T	uc002mqd.1	+	2	588	c.513C>T	c.(511-513)CGC>CGT	p.R171R	YIPF2_uc002mqb.2_5'Flank|YIPF2_uc002mqc.2_5'Flank	NM_138358	NP_612367	Q9BSF4	CS052_HUMAN	hypothetical protein LOC90580	171											0						TCGTGGGTCGCTGGTGGGTGC	0.706												
RAB3D	9545	broad.mit.edu	37	19	11446376	11446376	+	Silent	SNP	G	G	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr19:11446376G>A	uc002mqy.2	-	3	550	c.312C>T	c.(310-312)ATC>ATT	p.I104I		NM_004283	NP_004274	O95716	RAB3D_HUMAN	RAB3D, member RAS oncogene family	104					exocytosis|protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity			ovary(2)	2						CCTGATTGGCGATGTCATACA	0.607												
CCDC151	115948	broad.mit.edu	37	19	11537809	11537809	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr19:11537809C>T	uc002mrs.2	-	4	639	c.496G>A	c.(496-498)GCC>ACC	p.A166T	CCDC151_uc002mrr.2_Missense_Mutation_p.A101T|CCDC151_uc010dxz.2_Missense_Mutation_p.A140T	NM_145045	NP_659482	A5D8V7	CC151_HUMAN	coiled-coil domain containing 151	166	Potential.									ovary(1)	1						TGCCGCAGGGCGTTCTGCTGC	0.657												
CNN1	1264	broad.mit.edu	37	19	11658614	11658614	+	Silent	SNP	G	G	A	rs3826802	by1000genomes	TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr19:11658614G>A	uc002msc.1	+	5	557	c.393G>A	c.(391-393)GCG>GCA	p.A131A	CNN1_uc010xmb.1_Silent_p.A81A|CNN1_uc010xmc.1_Silent_p.A81A	NM_001299	NP_001290	P51911	CNN1_HUMAN	calponin 1, basic, smooth muscle	131	CH.				actomyosin structure organization|regulation of smooth muscle contraction	cytoskeleton	actin binding|calmodulin binding				0						CCACCTAGGCGAAGACGAAAG	0.493												
ZNF44	51710	broad.mit.edu	37	19	12383962	12383962	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr19:12383962A>G	uc010xmj.1	-	5	1457	c.1252T>C	c.(1252-1254)TGT>CGT	p.C418R	ZNF44_uc002mtl.2_Intron|ZNF44_uc010dyr.1_Intron|ZNF44_uc010xmi.1_RNA|ZNF44_uc002mtn.3_RNA|ZNF44_uc010dys.2_Missense_Mutation_p.C370R	NM_001164276	NP_001157748	P15621	ZNF44_HUMAN	zinc finger protein 44 isoform 1	418	C2H2-type 9.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton|nucleus	DNA binding|protein binding|zinc ion binding			ovary(1)	1		Renal(1328;0.157)		GBM - Glioblastoma multiforme(1328;0.0164)|Lung(535;0.179)		AATTTCCCACATTGCTTACAT	0.418												
NACC1	112939	broad.mit.edu	37	19	13249039	13249039	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr19:13249039G>A	uc002mwm.2	+	6	1571	c.1403G>A	c.(1402-1404)CGC>CAC	p.R468H		NM_052876	NP_443108	Q96RE7	NACC1_HUMAN	transcriptional repressor NAC1	468	BEN.				negative regulation of transcription, DNA-dependent|positive regulation of cell proliferation|protein homooligomerization|transcription, DNA-dependent	cytoplasm|nuclear body					0						ACCAACGCCCGCCGCGTCGTG	0.617												
CACNA1A	773	broad.mit.edu	37	19	13346469	13346469	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr19:13346469T>C	uc010dze.2	-	32	5265	c.5029A>G	c.(5029-5031)ACC>GCC	p.T1677A	CACNA1A_uc010xnd.1_Missense_Mutation_p.T382A|CACNA1A_uc002mwx.3_Missense_Mutation_p.T382A|CACNA1A_uc010dzc.2_Missense_Mutation_p.T1202A|CACNA1A_uc002mwy.3_Missense_Mutation_p.T1676A|CACNA1A_uc002mwv.3_Missense_Mutation_p.T193A	NM_001127221	NP_001120693	O00555	CAC1A_HUMAN	calcium channel, alpha 1A subunit isoform 3	1677	IV.|Cytoplasmic (Potential).				cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			large_intestine(2)	2			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	ATGCGGATGGTGTAACCCTGA	0.562											OREG0025293	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
CC2D1A	54862	broad.mit.edu	37	19	14029367	14029367	+	Silent	SNP	C	C	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr19:14029367C>A	uc002mxo.2	+	8	1223	c.924C>A	c.(922-924)CTC>CTA	p.L308L	CC2D1A_uc002mxn.2_Silent_p.L207L|CC2D1A_uc002mxp.2_Silent_p.L308L|CC2D1A_uc010dzh.2_5'UTR|CC2D1A_uc002mxq.1_5'UTR	NM_017721	NP_060191	Q6P1N0	C2D1A_HUMAN	coiled-coil and C2 domain containing 1A	308	Pro-rich.				positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus|plasma membrane	DNA binding|signal transducer activity				0			OV - Ovarian serous cystadenocarcinoma(19;3.49e-23)			CCGTGGACCTCTCCTGCCTGC	0.592												
CC2D1A	54862	broad.mit.edu	37	19	14034390	14034390	+	Silent	SNP	C	C	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr19:14034390C>T	uc002mxo.2	+	16	2093	c.1794C>T	c.(1792-1794)ACC>ACT	p.T598T	CC2D1A_uc002mxp.2_Silent_p.T598T|CC2D1A_uc010dzh.2_Silent_p.T167T|CC2D1A_uc002mxq.1_Silent_p.T243T	NM_017721	NP_060191	Q6P1N0	C2D1A_HUMAN	coiled-coil and C2 domain containing 1A	598					positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus|plasma membrane	DNA binding|signal transducer activity				0			OV - Ovarian serous cystadenocarcinoma(19;3.49e-23)			ACCAATTCACCCAGCTGGGCA	0.592												
PKN1	5585	broad.mit.edu	37	19	14582559	14582559	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr19:14582559C>T	uc002myp.2	+	22	2960	c.2792C>T	c.(2791-2793)GCC>GTC	p.A931V	PKN1_uc002myq.2_Missense_Mutation_p.A937V|PKN1_uc002myr.2_Missense_Mutation_p.A271V	NM_002741	NP_002732	Q16512	PKN1_HUMAN	protein kinase N1 isoform 2	931	AGC-kinase C-terminal.				activation of JUN kinase activity|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent	endosome|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|GTP-Rho binding|histone binding|histone deacetylase binding|histone kinase activity (H3-T11 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|Rac GTPase binding			ovary(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1)	8						GAGCAGGCAGCCTTCCTGGAC	0.542												
GIPC1	10755	broad.mit.edu	37	19	14593766	14593766	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr19:14593766C>T	uc002myt.2	-	4	293	c.23G>A	c.(22-24)CGG>CAG	p.R8Q	GIPC1_uc002myu.2_Missense_Mutation_p.R8Q|GIPC1_uc002myv.2_Intron|GIPC1_uc002myw.2_Intron|GIPC1_uc002myx.2_Missense_Mutation_p.R8Q|GIPC1_uc002myy.2_Intron	NM_005716	NP_005707	O14908	GIPC1_HUMAN	regulator of G-protein signalling 19 interacting	8					endothelial cell migration|G-protein coupled receptor protein signaling pathway|glutamate secretion|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|protein targeting|regulation of protein stability|regulation of synaptic plasticity|synaptic transmission	cell cortex|dendritic shaft|dendritic spine|membrane fraction|soluble fraction|synaptic vesicle|vesicle membrane	actin binding|myosin binding|protein homodimerization activity|receptor binding				0						CGCCTTTTTCCGCCGCCCCAG	0.687												
EMR3	84658	broad.mit.edu	37	19	14772873	14772873	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr19:14772873T>C	uc002mzi.3	-	4	405	c.257A>G	c.(256-258)TAC>TGC	p.Y86C	EMR3_uc010dzp.2_Intron|EMR3_uc010xnv.1_Intron	NM_032571	NP_115960	Q9BY15	EMR3_HUMAN	egf-like module-containing mucin-like receptor	86	Extracellular (Potential).|EGF-like 2; calcium-binding (Potential).				neuropeptide signaling pathway	extracellular space|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			ovary(5)|skin(1)	6						TTCGACATTGTAACACACAGC	0.363												
NOTCH3	4854	broad.mit.edu	37	19	15281319	15281319	+	Missense_Mutation	SNP	A	A	C			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr19:15281319A>C	uc002nan.2	-	27	5013	c.4937T>G	c.(4936-4938)CTG>CGG	p.L1646R		NM_000435	NP_000426	Q9UM47	NOTC3_HUMAN	Notch homolog 3 precursor	1646	Helical; (Potential).				Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			lung(8)|ovary(5)|skin(4)|prostate(2)|central_nervous_system(1)|breast(1)	21			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			CGCCACTAGCAGTGGCAGCAG	0.682												
CYP4F22	126410	broad.mit.edu	37	19	15648443	15648443	+	Missense_Mutation	SNP	G	G	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr19:15648443G>T	uc002nbh.3	+	6	686	c.519G>T	c.(517-519)AAG>AAT	p.K173N		NM_173483	NP_775754	Q6NT55	CP4FN_HUMAN	cytochrome P450, family 4, subfamily F,	173						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						CTTACATGAAGATCTTCAACC	0.557												
CYP4F2	8529	broad.mit.edu	37	19	16000362	16000362	+	Silent	SNP	C	C	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr19:16000362C>T	uc002nbs.1	-	7	839	c.789G>A	c.(787-789)GTG>GTA	p.V263V	CYP4F2_uc010xot.1_Silent_p.V114V|CYP4F2_uc010xou.1_Silent_p.V114V	NM_001082	NP_001073	P78329	CP4F2_HUMAN	cytochrome P450, family 4, subfamily F,	263					leukotriene metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding|protein binding			ovary(1)|skin(1)	2						TGAAGTCGTGCACCAGGCGGC	0.557												
OR10H4	126541	broad.mit.edu	37	19	16060359	16060359	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr19:16060359A>G	uc010xov.1	+	1	542	c.542A>G	c.(541-543)CAT>CGT	p.H181R		NM_001004465	NP_001004465	Q8NGA5	O10H4_HUMAN	olfactory receptor, family 10, subfamily H,	181	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|breast(1)	2						TTTTTCTGTCATGTGCTTTCC	0.473												
FAM129C	199786	broad.mit.edu	37	19	17648228	17648228	+	Silent	SNP	T	T	C			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr19:17648228T>C	uc010xpr.1	+	6	702	c.564T>C	c.(562-564)CCT>CCC	p.P188P	FAM129C_uc010xpq.1_Silent_p.P188P|FAM129C_uc010xps.1_Silent_p.P157P|FAM129C_uc010xpt.1_RNA|FAM129C_uc002ngy.3_5'Flank|FAM129C_uc010xpu.1_5'Flank|FAM129C_uc002ngz.3_5'Flank|FAM129C_uc010eaw.2_5'Flank|FAM129C_uc002nhb.2_5'Flank	NM_173544	NP_775815	Q86XR2	NIBL2_HUMAN	B-cell novel protein 1 isoform a	188											0						TGGAAGTGCCTGTGAGCTTCC	0.557												
TMEM161A	54929	broad.mit.edu	37	19	19232368	19232368	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr19:19232368C>T	uc002nlg.2	-	8	796	c.766G>A	c.(766-768)GCA>ACA	p.A256T	TMEM161A_uc010eca.2_RNA|TMEM161A_uc002nlh.2_Missense_Mutation_p.A231T|TMEM161A_uc002nli.2_Missense_Mutation_p.A153T|TMEM161A_uc002nlj.2_Missense_Mutation_p.A131T	NM_017814	NP_060284	Q9NX61	T161A_HUMAN	transmembrane protein 161A precursor	256	Extracellular (Potential).				cellular response to oxidative stress|cellular response to UV|negative regulation of apoptosis|positive regulation of DNA repair|response to retinoic acid	integral to membrane				breast(2)	2			OV - Ovarian serous cystadenocarcinoma(5;1.19e-05)|Epithelial(12;0.0011)			ATGGTCAGTGCGTCCCGGTGG	0.657												
ZNF682	91120	broad.mit.edu	37	19	20133814	20133814	+	Silent	SNP	T	T	C			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr19:20133814T>C	uc002noq.2	-	3	348	c.225A>G	c.(223-225)CCA>CCG	p.P75P	ZNF682_uc002noo.2_Silent_p.P43P|ZNF682_uc002nop.2_Silent_p.P43P|ZNF682_uc010eck.2_Intron	NM_033196	NP_149973	O95780	ZN682_HUMAN	zinc finger protein 682 isoform 1	75	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|pancreas(1)	2						CCAACCTACCTGGGGGTTTGG	0.473												
ZNF430	80264	broad.mit.edu	37	19	21240210	21240210	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr19:21240210A>G	uc002npj.2	+	5	1206	c.1096A>G	c.(1096-1098)ATT>GTT	p.I366V	ZNF430_uc002npk.2_Missense_Mutation_p.I365V	NM_025189	NP_079465	Q9H8G1	ZN430_HUMAN	zinc finger protein 430	366	C2H2-type 6.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(2)	2						ACATAAGATAATTCATGCTGG	0.348												
UQCRFS1	7386	broad.mit.edu	37	19	29698962	29698962	+	Silent	SNP	G	G	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr19:29698962G>A	uc002nsd.2	-	2	429	c.318C>T	c.(316-318)AGC>AGT	p.S106S		NM_006003	NP_005994	P47985	UCRI_HUMAN	ubiquinol-cytochrome c reductase, Rieske	106					respiratory electron transport chain	integral to membrane|mitochondrial respiratory chain complex III	2 iron, 2 sulfur cluster binding|metal ion binding|ubiquinol-cytochrome-c reductase activity				0	Breast(6;0.0545)|Esophageal squamous(110;0.239)		Lung(7;0.092)			TAGCCTCGCTGCTTTCTCTTG	0.473												
ZNF536	9745	broad.mit.edu	37	19	30935815	30935815	+	Missense_Mutation	SNP	C	C	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr19:30935815C>A	uc002nsu.1	+	2	1484	c.1346C>A	c.(1345-1347)CCC>CAC	p.P449H	ZNF536_uc010edd.1_Missense_Mutation_p.P449H	NM_014717	NP_055532	O15090	ZN536_HUMAN	zinc finger protein 536	449					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			ovary(7)|large_intestine(2)|skin(2)	11	Esophageal squamous(110;0.0834)					CTGAGCGAGCCCAGCCAGCTC	0.657												
ZNF536	9745	broad.mit.edu	37	19	31039827	31039827	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr19:31039827G>A	uc002nsu.1	+	4	3439	c.3301G>A	c.(3301-3303)GAC>AAC	p.D1101N	ZNF536_uc010edd.1_Missense_Mutation_p.D1101N	NM_014717	NP_055532	O15090	ZN536_HUMAN	zinc finger protein 536	1101					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			ovary(7)|large_intestine(2)|skin(2)	11	Esophageal squamous(110;0.0834)					CGGCCACGTGGACCCTGCATT	0.542												
RGS9BP	388531	broad.mit.edu	37	19	33167385	33167385	+	Silent	SNP	C	C	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr19:33167385C>T	uc002ntp.1	+	1	1073	c.216C>T	c.(214-216)CGC>CGT	p.R72R	ANKRD27_uc002ntn.1_5'Flank|ANKRD27_uc002nto.1_5'Flank	NM_207391	NP_997274	Q6ZS82	R9BP_HUMAN	RGS9 anchor protein	72	Cytoplasmic (Potential).				negative regulation of signal transduction	integral to membrane				central_nervous_system(1)	1	Esophageal squamous(110;0.137)					CCGACGAGCGCGCCGAGTTCG	0.731												
WDR88	126248	broad.mit.edu	37	19	33638559	33638559	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr19:33638559C>T	uc002nui.2	+	4	563	c.485C>T	c.(484-486)GCC>GTC	p.A162V		NM_173479	NP_775750	Q6ZMY6	WDR88_HUMAN	PQQ repeat and WD repeat domain containing	162	WD 2.									ovary(1)|breast(1)|central_nervous_system(1)	3	Esophageal squamous(110;0.137)					AGAGTCATTGCCGCATCCTAT	0.398												
SCN1B	6324	broad.mit.edu	37	19	35523445	35523445	+	Silent	SNP	C	C	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr19:35523445C>T	uc002nxp.2	+	2	245	c.54C>T	c.(52-54)TGC>TGT	p.C18C	SCN1B_uc002nxo.1_Silent_p.C18C|SCN1B_uc010xsg.1_Silent_p.C18C	NM_001037	NP_001028	Q07699	SCN1B_HUMAN	sodium channel, voltage-gated, type I, beta	18					axon guidance|synaptic transmission	integral to membrane	voltage-gated sodium channel activity			ovary(1)|central_nervous_system(1)	2	all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			CCTCAGCCTGCGGGGGCTGCG	0.612												
FAM187B	148109	broad.mit.edu	37	19	35719446	35719446	+	Silent	SNP	G	G	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr19:35719446G>T	uc002nyk.1	-	1	183	c.138C>A	c.(136-138)TCC>TCA	p.S46S		NM_152481	NP_689694	Q17R55	F187B_HUMAN	family with sequence similarity 187, member B	46	Extracellular (Potential).					integral to membrane				ovary(2)	2						GCGCCCCCGAGGAGTTGCAAT	0.532												
GAPDHS	26330	broad.mit.edu	37	19	36034357	36034357	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr19:36034357C>T	uc002oaf.1	+	8	973	c.857C>T	c.(856-858)GCG>GTG	p.A286V	uc010eec.1_RNA|uc002oag.2_Intron|TMEM147_uc002oai.1_5'Flank|TMEM147_uc002oaj.1_5'Flank|TMEM147_uc002oak.1_5'Flank	NM_014364	NP_055179	O14556	G3PT_HUMAN	glyceraldehyde-3-phosphate dehydrogenase,	286					gluconeogenesis|glycolysis|positive regulation of glycolysis|sperm motility	cytosol	glyceraldehyde-3-phosphate dehydrogenase (NAD+) (phosphorylating) activity|NAD binding|protein binding				0	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		NADH(DB00157)	ACTGGGGCTGCGAAAGCTGTG	0.622												
KIRREL2	84063	broad.mit.edu	37	19	36351855	36351855	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr19:36351855G>A	uc002ocb.3	+	8	1185	c.973G>A	c.(973-975)GTG>ATG	p.V325M	KIRREL2_uc002obz.3_Missense_Mutation_p.V325M|KIRREL2_uc002oca.3_Missense_Mutation_p.V275M|KIRREL2_uc002occ.3_Missense_Mutation_p.V272M|KIRREL2_uc002ocd.3_Missense_Mutation_p.V322M	NM_199180	NP_954649	Q6UWL6	KIRR2_HUMAN	kin of IRRE-like 2 isoform c	325	Extracellular (Potential).|Ig-like C2-type 4.				cell adhesion	integral to membrane|plasma membrane				ovary(1)|central_nervous_system(1)|skin(1)	3	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)			GTCCGTGGACGTGGGGGAAGA	0.662												
ZNF382	84911	broad.mit.edu	37	19	37117125	37117125	+	Missense_Mutation	SNP	T	T	G			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr19:37117125T>G	uc002oek.2	+	5	439	c.326T>G	c.(325-327)CTA>CGA	p.L109R	ZNF382_uc010efa.2_Missense_Mutation_p.L60R|ZNF382_uc010efb.2_Missense_Mutation_p.L108R|ZNF382_uc002oel.2_Missense_Mutation_p.L108R	NM_032825	NP_116214	Q96SR6	ZN382_HUMAN	zinc finger protein 382	109	Represses transcription (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			CACAAAAAACTAATTAAGGAG	0.323												
ZNF585B	92285	broad.mit.edu	37	19	37697974	37697974	+	Missense_Mutation	SNP	G	G	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr19:37697974G>T	uc002ofq.2	-	2	294	c.40C>A	c.(40-42)CTG>ATG	p.L14M	ZNF585B_uc002ofr.1_Translation_Start_Site	NM_152279	NP_689492	Q52M93	Z585B_HUMAN	zinc finger protein 585B	14					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			ovary(1)	1			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TCTGGAGCCAGGGCTGAGGAT	0.522												
SIPA1L3	23094	broad.mit.edu	37	19	38643562	38643562	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr19:38643562G>A	uc002ohk.2	+	13	4125	c.3616G>A	c.(3616-3618)GGC>AGC	p.G1206S		NM_015073	NP_055888	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like	1206					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			ovary(1)|central_nervous_system(1)	2			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			CTCCTCTTCCGGCGGCCTGAC	0.667												
RYR1	6261	broad.mit.edu	37	19	38990588	38990588	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr19:38990588G>T	uc002oit.2	+	45	7385	c.7255G>T	c.(7255-7257)GGA>TGA	p.G2419*	RYR1_uc002oiu.2_Nonsense_Mutation_p.G2419*|RYR1_uc002oiv.1_5'UTR	NM_000540	NP_000531	P21817	RYR1_HUMAN	skeletal muscle ryanodine receptor isoform 1	2419	Cytoplasmic.|6 X approximate repeats.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1)	12	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	GGTGCACCTGGGACACGCCAT	0.637												
CAPN12	147968	broad.mit.edu	37	19	39228150	39228150	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr19:39228150C>T	uc002ojd.1	-	9	1403	c.1094G>A	c.(1093-1095)CGT>CAT	p.R365H	CAPN12_uc010egd.1_5'Flank|CAPN12_uc002ojc.1_5'Flank	NM_144691	NP_653292	Q6ZSI9	CAN12_HUMAN	calpain 12	365	Domain III.				proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			central_nervous_system(1)|pancreas(1)	2	all_cancers(60;2.87e-05)|Ovarian(47;0.0454)		Lung(45;0.00416)|LUSC - Lung squamous cell carcinoma(53;0.00741)			GTTGAAGCCACGCACCCAGCG	0.706												
IL28B	282617	broad.mit.edu	37	19	39734729	39734729	+	Silent	SNP	A	A	G			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr19:39734729A>G	uc010xut.1	-	3	331	c.327T>C	c.(325-327)GCT>GCC	p.A109A	IL28B_uc010xuu.1_Silent_p.A109A	NM_172139	NP_742151	Q8IZI9	IL28B_HUMAN	interleukin 28B	109					response to virus	extracellular space	cytokine activity				0	all_cancers(60;2.81e-07)|all_lung(34;7.81e-08)|Lung NSC(34;9.29e-08)|all_epithelial(25;3.9e-07)|Ovarian(47;0.0315)		Epithelial(26;1.55e-27)|all cancers(26;1.41e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)			GGTCAGTGTCAGCGGTGGCCT	0.572												
FCGBP	8857	broad.mit.edu	37	19	40362848	40362848	+	Silent	SNP	G	G	C			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr19:40362848G>C	uc002omp.3	-	32	15230	c.15222C>G	c.(15220-15222)CGC>CGG	p.R5074R		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein precursor	5074						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)			ATACGCATTGGCGGAAGTACT	0.667												
FCGBP	8857	broad.mit.edu	37	19	40424239	40424239	+	Missense_Mutation	SNP	T	T	G	rs144589100		TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr19:40424239T>G	uc002omp.3	-	4	1972	c.1964A>C	c.(1963-1965)AAC>ACC	p.N655T		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein precursor	655	VWFD 1.					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)			GGGACAGTTGTTCTGGCAGCC	0.617												
SPTBN4	57731	broad.mit.edu	37	19	41008168	41008168	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr19:41008168T>C	uc002ony.2	+	9	1117	c.1031T>C	c.(1030-1032)GTG>GCG	p.V344A	SPTBN4_uc002onx.2_Missense_Mutation_p.V344A|SPTBN4_uc002onz.2_Missense_Mutation_p.V344A	NM_020971	NP_066022	Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4 isoform	344	Spectrin 1.				actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton			ovary(3)|central_nervous_system(1)|skin(1)	5			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			TTAAGTGGGGTGCAGCAGCAA	0.607												
HNRNPUL1	11100	broad.mit.edu	37	19	41807512	41807512	+	Silent	SNP	A	A	G			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr19:41807512A>G	uc002oqb.3	+	11	1879	c.1590A>G	c.(1588-1590)GTA>GTG	p.V530V	CYP2F1_uc010xvw.1_Intron|HNRNPUL1_uc002opz.3_Silent_p.V430V|HNRNPUL1_uc002oqa.3_Silent_p.V430V|HNRNPUL1_uc010ehm.2_Silent_p.V530V|HNRNPUL1_uc002oqc.3_Silent_p.V416V|HNRNPUL1_uc002oqe.3_Intron|HNRNPUL1_uc002oqd.3_Silent_p.V430V|HNRNPUL1_uc010ehn.2_Silent_p.V430V|HNRNPUL1_uc010eho.2_Silent_p.V430V|HNRNPUL1_uc010xvy.1_Silent_p.V430V|HNRNPUL1_uc010ehp.2_Silent_p.V386V|HNRNPUL1_uc002oqf.3_5'Flank	NM_007040	NP_008971	Q9BUJ2	HNRL1_HUMAN	heterogeneous nuclear ribonucleoprotein U-like 1	530	Necessary for interaction with TP53.|Necessary for interaction with BRD7 and transcriptional activation.				nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent	heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	enzyme binding|RNA binding			central_nervous_system(1)|skin(1)	2						AAGCTATTGTAATTTGTCCCA	0.453												
HNRNPUL1	11100	broad.mit.edu	37	19	41807560	41807560	+	Silent	SNP	C	C	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr19:41807560C>T	uc002oqb.3	+	11	1927	c.1638C>T	c.(1636-1638)ACC>ACT	p.T546T	CYP2F1_uc010xvw.1_Intron|HNRNPUL1_uc002opz.3_Silent_p.T446T|HNRNPUL1_uc002oqa.3_Silent_p.T446T|HNRNPUL1_uc010ehm.2_Silent_p.T546T|HNRNPUL1_uc002oqc.3_Silent_p.T432T|HNRNPUL1_uc002oqe.3_Intron|HNRNPUL1_uc002oqd.3_Silent_p.T446T|HNRNPUL1_uc010ehn.2_Silent_p.T446T|HNRNPUL1_uc010eho.2_Silent_p.T446T|HNRNPUL1_uc010xvy.1_Silent_p.T446T|HNRNPUL1_uc010ehp.2_Silent_p.T402T|HNRNPUL1_uc002oqf.3_5'Flank	NM_007040	NP_008971	Q9BUJ2	HNRL1_HUMAN	heterogeneous nuclear ribonucleoprotein U-like 1	546	Necessary for interaction with TP53.|Necessary for interaction with BRD7 and transcriptional activation.				nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent	heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	enzyme binding|RNA binding			central_nervous_system(1)|skin(1)	2						TAAAGCGAACCGACGAGGAAG	0.483												
HNRNPUL1	11100	broad.mit.edu	37	19	41810111	41810111	+	Missense_Mutation	SNP	C	C	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr19:41810111C>A	uc002oqb.3	+	13	2496	c.2207C>A	c.(2206-2208)CCT>CAT	p.P736H	CYP2F1_uc010xvw.1_Intron|HNRNPUL1_uc002opz.3_Missense_Mutation_p.P636H|HNRNPUL1_uc002oqa.3_Missense_Mutation_p.P636H|HNRNPUL1_uc010ehm.2_Missense_Mutation_p.P736H|HNRNPUL1_uc002oqc.3_Missense_Mutation_p.P622H|HNRNPUL1_uc002oqe.3_Intron|HNRNPUL1_uc002oqd.3_Missense_Mutation_p.P636H|HNRNPUL1_uc010ehn.2_Missense_Mutation_p.P636H|HNRNPUL1_uc010eho.2_Missense_Mutation_p.P636H|HNRNPUL1_uc010xvy.1_Missense_Mutation_p.P636H|HNRNPUL1_uc010ehp.2_Missense_Mutation_p.P592H|HNRNPUL1_uc002oqf.3_Missense_Mutation_p.P260H	NM_007040	NP_008971	Q9BUJ2	HNRL1_HUMAN	heterogeneous nuclear ribonucleoprotein U-like 1	736	Pro-rich.|Necessary for interaction with TP53.				nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent	heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	enzyme binding|RNA binding			central_nervous_system(1)|skin(1)	2						AGCAACATCCCTGGCTCAAGC	0.468												
ZNF526	116115	broad.mit.edu	37	19	42730321	42730321	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr19:42730321G>A	uc002osz.1	+	3	1922	c.1766G>A	c.(1765-1767)CGA>CAA	p.R589Q		NM_133444	NP_597701	Q8TF50	ZN526_HUMAN	zinc finger protein 526	589	C2H2-type 13.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Prostate(69;0.0704)				GCGGGCTTGCGACTGCATCAG	0.642												
LIPE	3991	broad.mit.edu	37	19	42910420	42910420	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr19:42910420T>C	uc002otr.2	-	7	2535	c.2258A>G	c.(2257-2259)TAC>TGC	p.Y753C	uc010eif.1_Intron	NM_005357	NP_005348	Q05469	LIPS_HUMAN	hormone-sensitive lipase	753					cholesterol metabolic process|protein phosphorylation|triglyceride catabolic process	caveola|cytosol	hormone-sensitive lipase activity|protein binding			ovary(1)|breast(1)	2		Prostate(69;0.00682)				TGTGGCCGGGTAGGCTGCCAT	0.672												
PSG11	5680	broad.mit.edu	37	19	43519329	43519329	+	Silent	SNP	G	G	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr19:43519329G>A	uc002ovm.1	-	4	1010	c.903C>T	c.(901-903)TGC>TGT	p.C301C	PSG11_uc002ouw.2_Intron|PSG10_uc002ouv.1_Intron|PSG6_uc002ovh.1_Intron|PSG6_uc002ovi.2_Intron|PSG6_uc010xwk.1_Intron|PSG11_uc002ovk.1_Intron|PSG11_uc002ovn.1_Silent_p.C307C|PSG11_uc002ovo.1_Silent_p.C179C|PSG11_uc002ovp.1_Silent_p.C179C	NM_002785	NP_002776	Q9UQ72	PSG11_HUMAN	pregnancy specific beta-1-glycoprotein 11	301	Ig-like C2-type 2.				female pregnancy	extracellular region					0		Prostate(69;0.00682)				TACGAGCAGAGCAAGCATAGA	0.458												
ZNF226	7769	broad.mit.edu	37	19	44681086	44681086	+	Silent	SNP	A	A	G			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr19:44681086A>G	uc002oyp.2	+	6	1815	c.1671A>G	c.(1669-1671)AAA>AAG	p.K557K	ZNF226_uc002oyq.2_Silent_p.K440K|ZNF226_uc002oyr.2_Silent_p.K440K|ZNF226_uc010ejg.2_3'UTR|ZNF226_uc002oys.2_Silent_p.K557K|ZNF226_uc002oyt.2_Silent_p.K557K	NM_001032373	NP_001027545	Q9NYT6	ZN226_HUMAN	zinc finger protein 226 isoform a	557					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Prostate(69;0.0352)|all_neural(266;0.202)				GTATAGAGAAACCTTTTAAGT	0.448												
CEACAM20	125931	broad.mit.edu	37	19	45017279	45017279	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr19:45017279G>A	uc010ejn.1	-	7	1395	c.1379C>T	c.(1378-1380)GCT>GTT	p.A460V	CEACAM20_uc010ejo.1_Missense_Mutation_p.A460V|CEACAM20_uc010ejp.1_Missense_Mutation_p.A367V|CEACAM20_uc010ejq.1_Missense_Mutation_p.A367V	NM_001102597	NP_001096067	Q6UY09	CEA20_HUMAN	carcinoembryonic antigen-related cell adhesion	460	Helical; (Potential).					integral to membrane				large_intestine(2)	2		Prostate(69;0.0352)				TGAGGCCACAGCAATGACAGC	0.582											OREG0025538	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
BCAM	4059	broad.mit.edu	37	19	45315630	45315630	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr19:45315630G>A	uc002ozu.2	+	3	459	c.415G>A	c.(415-417)GCG>ACG	p.A139T	BCAM_uc002ozt.1_Missense_Mutation_p.A139T	NM_005581	NP_005572	P50895	BCAM_HUMAN	basal cell adhesion molecule isoform 1	139	Extracellular (Potential).|Ig-like V-type 1.				cell-matrix adhesion	integral to plasma membrane	laminin binding|laminin receptor activity			skin(1)	1	Lung NSC(12;0.000789)|all_lung(12;0.00218)	Ovarian(192;0.0728)|all_neural(266;0.112)				TGAGGCCACTGCGCGGCTCAA	0.687												
MARK4	57787	broad.mit.edu	37	19	45805630	45805630	+	Splice_Site	SNP	A	A	G			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr19:45805630A>G	uc002pbb.1	+	17	1928	c.1923_splice	c.e17-2	p.S641_splice	MARK4_uc002pba.1_Splice_Site_p.V668_splice			Q96L34	MARK4_HUMAN	RecName: Full=MAP/microtubule affinity-regulating kinase 4;          EC=2.7.11.1; AltName: Full=MAP/microtubule affinity-regulating kinase-like 1;						microtubule bundle formation|nervous system development|positive regulation of programmed cell death	centrosome|neuron projection	ATP binding|gamma-tubulin binding|microtubule binding|protein serine/threonine kinase activity|tau-protein kinase activity|ubiquitin binding			central_nervous_system(2)|large_intestine(1)	3		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0102)		TTCTCGCCTCAGTTGCCATCT	0.562												
PPP1R13L	10848	broad.mit.edu	37	19	45901297	45901297	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr19:45901297G>A	uc002pbn.2	-	3	241	c.164C>T	c.(163-165)GCG>GTG	p.A55V	PPP1R13L_uc002pbo.2_Missense_Mutation_p.A55V|PPP1R13L_uc002pbp.2_Missense_Mutation_p.A55V	NM_006663	NP_006654	Q8WUF5	IASPP_HUMAN	protein phosphatase 1, regulatory subunit 13	55	Pro-rich.				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	transcription corepressor activity|transcription factor binding			skin(1)	1		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0182)		GCCAGGAGGCGCGGGAGAGTC	0.622												
CD3EAP	10849	broad.mit.edu	37	19	45911523	45911523	+	Silent	SNP	G	G	A	rs140241488		TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr19:45911523G>A	uc002pbq.1	+	3	785	c.297G>A	c.(295-297)ACG>ACA	p.T99T	PPP1R13L_uc002pbo.2_5'Flank|PPP1R13L_uc002pbp.2_5'Flank|CD3EAP_uc002pbr.1_Silent_p.T101T	NM_012099	NP_036231	O15446	RPA34_HUMAN	CD3E antigen, epsilon polypeptide associated	99					rRNA transcription|transmembrane receptor protein tyrosine kinase signaling pathway	chromosome|RNA polymerase I transcription factor complex	DNA-directed RNA polymerase activity			large_intestine(2)|ovary(2)	4		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0251)		CCCCCTCAACGGAGGCAGGAG	0.647												
NANOS2	339345	broad.mit.edu	37	19	46417728	46417728	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr19:46417728A>G	uc002pdu.2	-	1	309	c.224T>C	c.(223-225)GTC>GCC	p.V75A		NM_001029861	NP_001025032	P60321	NANO2_HUMAN	nanos homolog 2	75	Nanos-type.|C2HC 1.				germ-line stem cell maintenance|mRNA catabolic process|multicellular organismal development|negative regulation of meiosis|regulation of translation|spermatogenesis	cytoplasmic mRNA processing body|perinuclear region of cytoplasm	RNA binding|zinc ion binding				0		Ovarian(192;0.0308)|all_neural(266;0.0476)		OV - Ovarian serous cystadenocarcinoma(262;0.00442)|GBM - Glioblastoma multiforme(486;0.0668)|Epithelial(262;0.231)		TGAGGAGTAGACGTGGCGGGA	0.687												
GRLF1	2909	broad.mit.edu	37	19	47422063	47422063	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr19:47422063G>A	uc010ekv.2	+	1	131	c.131G>A	c.(130-132)CGC>CAC	p.R44H		NM_004491	NP_004482	Q9NRY4	RHG35_HUMAN	glucocorticoid receptor DNA binding factor 1	44					axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol	DNA binding|Rho GTPase activator activity|transcription corepressor activity			central_nervous_system(1)	1		all_cancers(25;1.51e-09)|all_epithelial(76;1.87e-07)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|Ovarian(192;0.0129)|all_neural(266;0.026)|Breast(70;0.077)		all cancers(93;2.03e-05)|OV - Ovarian serous cystadenocarcinoma(262;2.57e-05)|Epithelial(262;0.00135)|GBM - Glioblastoma multiforme(486;0.0289)		CGCTTCGTGCGCCCGAGTGCT	0.527												
DHX34	9704	broad.mit.edu	37	19	47884088	47884088	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr19:47884088C>T	uc010xyn.1	+	15	3339	c.2998C>T	c.(2998-3000)CGG>TGG	p.R1000W	DHX34_uc010xyo.1_Missense_Mutation_p.R129W	NM_014681	NP_055496	Q14147	DHX34_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 34	1000						intracellular	ATP binding|ATP-dependent helicase activity|RNA binding|zinc ion binding			ovary(4)|upper_aerodigestive_tract(1)	5		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132)		TTACAGCCTCCGGCGGCTCAC	0.353												
FAM83E	54854	broad.mit.edu	37	19	49106851	49106851	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr19:49106851C>T	uc002pjn.2	-	4	1141	c.1076G>A	c.(1075-1077)CGC>CAC	p.R359H		NM_017708	NP_060178	Q2M2I3	FA83E_HUMAN	hypothetical protein LOC54854	359										ovary(1)	1		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158)		ggtccgggcgcgcTGCACACT	0.567												
FAM83E	54854	broad.mit.edu	37	19	49116511	49116511	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr19:49116511C>T	uc002pjn.2	-	1	184	c.119G>A	c.(118-120)AGC>AAC	p.S40N		NM_017708	NP_060178	Q2M2I3	FA83E_HUMAN	hypothetical protein LOC54854	40										ovary(1)	1		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158)		CGCGCCCTTGCTCAACAGAGC	0.682												
NOSIP	51070	broad.mit.edu	37	19	50059938	50059938	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr19:50059938G>A	uc002pok.2	-	8	745	c.593C>T	c.(592-594)ACG>ATG	p.T198M	NOSIP_uc002pol.2_Missense_Mutation_p.T198M	NM_015953	NP_057037	Q9Y314	NOSIP_HUMAN	nitric oxide synthase interacting protein	198					negative regulation of nitric-oxide synthase activity|nitric oxide metabolic process	cytosol|nucleus	protein binding			skin(1)	1		all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.0966)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00321)|GBM - Glioblastoma multiforme(134;0.0133)		GTGCACGGGCGTCAGGTCCGA	0.692												
CPT1C	126129	broad.mit.edu	37	19	50208489	50208489	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr19:50208489C>T	uc002ppj.2	+	9	1103	c.898C>T	c.(898-900)CGC>TGC	p.R300C	CPT1C_uc002ppl.3_Missense_Mutation_p.R266C|CPT1C_uc002ppi.2_Missense_Mutation_p.R217C|CPT1C_uc002ppk.2_Missense_Mutation_p.R289C|CPT1C_uc010eng.2_Missense_Mutation_p.R300C|CPT1C_uc010enh.2_Missense_Mutation_p.R300C|CPT1C_uc010ybc.1_Missense_Mutation_p.R171C|CPT1C_uc010eni.1_5'Flank	NM_152359	NP_689572	Q8TCG5	CPT1C_HUMAN	carnitine palmitoyltransferase 1C isoform 2	300	Cytoplasmic (Potential).				fatty acid metabolic process	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			ovary(1)|central_nervous_system(1)|pancreas(1)	3		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786)		GATGGGAATGCGCCCCTTATG	0.582												
PTOV1	53635	broad.mit.edu	37	19	50360333	50360333	+	Silent	SNP	C	C	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr19:50360333C>T	uc002pqf.1	+	6	830	c.660C>T	c.(658-660)TAC>TAT	p.Y220Y	PTOV1_uc002ppz.3_RNA|PTOV1_uc002pqb.3_Silent_p.Y188Y|PTOV1_uc002pqa.2_RNA|PTOV1_uc002pqc.1_RNA|PTOV1_uc002pqd.2_RNA|PTOV1_uc002pqe.1_RNA	NM_017432	NP_059128	Q86YD1	PTOV1_HUMAN	prostate tumor overexpressed 1	220	Interaction with FLOT1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perinuclear region of cytoplasm|plasma membrane					0		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.0132)		TCATCCCCTACGACCAGAGCG	0.617												
ZNF473	25888	broad.mit.edu	37	19	50549260	50549260	+	Silent	SNP	C	C	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr19:50549260C>T	uc002prn.2	+	5	1797	c.1560C>T	c.(1558-1560)TGC>TGT	p.C520C	ZNF473_uc002prm.2_Silent_p.C520C|ZNF473_uc010ybo.1_Silent_p.C508C	NM_001006656	NP_001006657	Q8WTR7	ZN473_HUMAN	zinc finger protein 473	520	C2H2-type 10.|Interaction with SLBP/pre-mRNA complex.				histone mRNA 3'-end processing|regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription	Cajal body	DNA binding|protein binding|zinc ion binding			ovary(1)|central_nervous_system(1)	2		all_neural(266;0.0459)|Ovarian(192;0.0728)		GBM - Glioblastoma multiforme(134;0.00111)|OV - Ovarian serous cystadenocarcinoma(262;0.0058)		GTCAGGAGTGCGGAGAACGCT	0.468												
SHANK1	50944	broad.mit.edu	37	19	51220008	51220008	+	Missense_Mutation	SNP	G	G	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr19:51220008G>T	uc002psx.1	-	1	188	c.169C>A	c.(169-171)CTC>ATC	p.L57I		NM_016148	NP_057232	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	57					cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding			large_intestine(2)	2		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		CGGCCCTGGAGGCCTCTAACA	0.672												
CD33	945	broad.mit.edu	37	19	51728620	51728620	+	Missense_Mutation	SNP	C	C	T	rs138300409	byFrequency	TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr19:51728620C>T	uc002pwa.2	+	2	224	c.184C>T	c.(184-186)CGG>TGG	p.R62W	CD33_uc010eos.1_Missense_Mutation_p.R62W|CD33_uc010eot.1_Intron|CD33_uc010eou.1_5'Flank	NM_001772	NP_001763	P20138	CD33_HUMAN	CD33 antigen isoform 1 precursor	62	Extracellular (Potential).|Ig-like V-type.				cell adhesion|cell-cell signaling|negative regulation of cell proliferation	external side of plasma membrane|integral to plasma membrane	receptor activity|sugar binding				0		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000224)|OV - Ovarian serous cystadenocarcinoma(262;0.00468)	Gemtuzumab ozogamicin(DB00056)	TTACTGGTTCCGGGAAGGAGC	0.537												
ZNF836	162962	broad.mit.edu	37	19	52660326	52660326	+	Silent	SNP	A	A	G			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr19:52660326A>G	uc010ydi.1	-	5	984	c.610T>C	c.(610-612)TTA>CTA	p.L204L	ZNF836_uc010ydj.1_Silent_p.L204L	NM_001102657	NP_001096127	Q6ZNA1	ZN836_HUMAN	zinc finger protein 836	204					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						TGGGTGGGTAATGACAGCTGC	0.363												
ZNF83	55769	broad.mit.edu	37	19	53117526	53117526	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr19:53117526G>A	uc002pzu.3	-	2	1536	c.292C>T	c.(292-294)CGT>TGT	p.R98C	ZNF83_uc002pzv.3_Missense_Mutation_p.R98C|ZNF83_uc010eps.2_Missense_Mutation_p.R98C|ZNF83_uc010ept.2_Missense_Mutation_p.R98C|ZNF83_uc010epu.2_Missense_Mutation_p.R98C|ZNF83_uc010epv.2_Missense_Mutation_p.R98C|ZNF83_uc010epw.2_Missense_Mutation_p.R98C|ZNF83_uc010epx.2_Missense_Mutation_p.R98C|ZNF83_uc010epy.2_Missense_Mutation_p.R98C|ZNF83_uc010epz.2_Missense_Mutation_p.R98C|ZNF83_uc010eqb.1_Missense_Mutation_p.R98C	NM_018300	NP_060770	P51522	ZNF83_HUMAN	zinc finger protein 83 isoform a	98	C2H2-type 1; degenerate.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(262;0.00841)|GBM - Glioblastoma multiforme(134;0.0244)		GCCTTGCCACGCTCACTACAT	0.333												
ZNF28	7576	broad.mit.edu	37	19	53304670	53304670	+	Missense_Mutation	SNP	C	C	G			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr19:53304670C>G	uc002qad.2	-	4	548	c.428G>C	c.(427-429)AGC>ACC	p.S143T	ZNF28_uc002qac.2_Missense_Mutation_p.S90T|ZNF28_uc010eqe.2_Missense_Mutation_p.S89T	NM_006969	NP_008900	P17035	ZNF28_HUMAN	zinc finger protein 28	143					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(1)	1				GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145)		CGAATGAAAGCTTAATCCAAG	0.413												
ZNF160	90338	broad.mit.edu	37	19	53589549	53589549	+	Translation_Start_Site	SNP	C	C	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr19:53589549C>A	uc010eqk.2	-	4	397	c.-19G>T	c.(-21--17)GAGGA>GATGA		ZNF160_uc002qaq.3_Translation_Start_Site|ZNF160_uc002qar.3_Translation_Start_Site|ZNF160_uc002qas.3_Translation_Start_Site	NM_001102603	NP_001096073	Q9HCG1	ZN160_HUMAN	zinc finger protein 160						hemopoiesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)	1				GBM - Glioblastoma multiforme(134;0.02)		CTTTTCTTTCCTCTTCCTCTT	0.413												
LILRA3	11026	broad.mit.edu	37	19	54802622	54802622	+	Silent	SNP	G	G	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr19:54802622G>T	uc002qfd.2	-	5	884	c.819C>A	c.(817-819)CCC>CCA	p.P273P	LILRA6_uc002qew.1_Intron|LILRA3_uc010erk.2_Silent_p.P209P	NM_006865	NP_006856	Q8N6C8	LIRA3_HUMAN	leukocyte immunoglobulin-like receptor,	273	Ig-like C2-type 3.				defense response	extracellular region|plasma membrane	antigen binding|receptor activity			ovary(1)	1	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GCCCAGCCTGGGGCTGCCGGC	0.627												
LILRA3	11026	broad.mit.edu	37	19	54802639	54802639	+	Missense_Mutation	SNP	G	G	A	rs143103718	byFrequency	TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr19:54802639G>A	uc002qfd.2	-	5	867	c.802C>T	c.(802-804)CGC>TGC	p.R268C	LILRA6_uc002qew.1_Intron|LILRA3_uc010erk.2_Missense_Mutation_p.R204C	NM_006865	NP_006856	Q8N6C8	LIRA3_HUMAN	leukocyte immunoglobulin-like receptor,	268	Ig-like C2-type 3.				defense response	extracellular region|plasma membrane	antigen binding|receptor activity			ovary(1)	1	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		CGGCCAGGGCGCTGGAGGAAG	0.642												
LENG9	94059	broad.mit.edu	37	19	54974255	54974255	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr19:54974255G>A	uc010yez.1	-	1	640	c.521C>T	c.(520-522)GCG>GTG	p.A174V		NM_198988	NP_945339	Q96B70	LENG9_HUMAN	leukocyte receptor cluster (LRC) member 9	174					RNA metabolic process	intracellular	catalytic activity|nucleic acid binding|zinc ion binding				0	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.134)		CCCGCGTCCCGCCGCCGAGCC	0.726												
TMEM86B	255043	broad.mit.edu	37	19	55738739	55738739	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr19:55738739C>T	uc002qju.2	-	3	1014	c.491G>A	c.(490-492)CGC>CAC	p.R164H	TMEM86B_uc002qjt.2_Missense_Mutation_p.R163H	NM_173804	NP_776165	Q8N661	TM86B_HUMAN	transmembrane protein 86B	164	Helical; (Potential).				ether lipid metabolic process	cytoplasmic part|integral to membrane	alkenylglycerophosphocholine hydrolase activity|alkenylglycerophosphoethanolamine hydrolase activity				0			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0443)		GGCCAGGCCGCGCCACAGCAT	0.701												
ZNF71	58491	broad.mit.edu	37	19	57132978	57132978	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr19:57132978G>A	uc002qnm.3	+	3	561	c.323G>A	c.(322-324)GGC>GAC	p.G108D		NM_021216	NP_067039	Q9NQZ8	ZNF71_HUMAN	zinc finger protein 71	108						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)		GTAAGGCGTGGCAAGAACTTC	0.582												
ZIM3	114026	broad.mit.edu	37	19	57647283	57647283	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr19:57647283A>G	uc002qnz.1	-	5	808	c.422T>C	c.(421-423)GTA>GCA	p.V141A		NM_052882	NP_443114	Q96PE6	ZIM3_HUMAN	zinc finger, imprinted 3	141					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			pancreas(1)|skin(1)	2		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		ATTATTTTGTACATAGTGTTG	0.363												
ZNF543	125919	broad.mit.edu	37	19	57840578	57840578	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr19:57840578A>G	uc002qoi.1	+	4	2093	c.1748A>G	c.(1747-1749)GAA>GGA	p.E583G		NM_213598	NP_998763	Q08ER8	ZN543_HUMAN	zinc finger protein 543	583					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(1)|pancreas(1)	2		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		AACATCCAGGAACTTTTATTA	0.403												
ZNF419	79744	broad.mit.edu	37	19	58005213	58005213	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr19:58005213A>G	uc002qov.2	+	5	1528	c.1288A>G	c.(1288-1290)AGG>GGG	p.R430G	ZNF547_uc002qpm.3_Intron|ZNF419_uc010ety.1_Missense_Mutation_p.R431G|ZNF419_uc010etz.1_Missense_Mutation_p.R418G|ZNF419_uc010eua.1_Missense_Mutation_p.R417G|ZNF419_uc002qow.2_Missense_Mutation_p.R398G|ZNF419_uc010eub.1_Missense_Mutation_p.R385G|ZNF419_uc010euc.1_Missense_Mutation_p.R384G	NM_024691	NP_078967	Q96HQ0	ZN419_HUMAN	zinc finger protein 419 isoform 2	430	C2H2-type 9.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Breast(46;0.0848)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0252)|Lung(386;0.171)		TTATGAGTGCAGGGAATGTGG	0.413												
ZNF773	374928	broad.mit.edu	37	19	58018753	58018753	+	Silent	SNP	T	T	C			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr19:58018753T>C	uc002qox.2	+	4	1430	c.1290T>C	c.(1288-1290)CTT>CTC	p.L430L	ZNF547_uc002qpm.3_Intron|ZNF773_uc002qoy.2_Silent_p.L429L|ZNF773_uc002qoz.2_Intron	NM_198542	NP_940944	Q6PK81	ZN773_HUMAN	zinc finger protein 773	430	C2H2-type 9.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0254)		GCTCCAGTCTTGTTAAACATC	0.423												
ZNF135	7694	broad.mit.edu	37	19	58573064	58573064	+	Silent	SNP	G	G	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr19:58573064G>T	uc010yhq.1	+	3	246	c.150G>T	c.(148-150)CTG>CTT	p.L50L	ZNF135_uc002qre.2_Silent_p.L50L|ZNF135_uc002qrd.1_Silent_p.L8L|ZNF135_uc002qrf.2_Silent_p.L8L|ZNF135_uc002qrg.2_Silent_p.L8L|ZNF135_uc010yhr.1_Intron	NM_003436	NP_003427	B4DHH9	B4DHH9_HUMAN	zinc finger protein 135 isoform 2	50					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			ovary(1)	1		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161)		TCAGGCTTCTGGTCTCTGTGG	0.522												
ZNF497	162968	broad.mit.edu	37	19	58867759	58867759	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr19:58867759C>T	uc002qsh.1	-	3	1432	c.1243G>A	c.(1243-1245)GCC>ACC	p.A415T	A1BG_uc002qsd.3_5'Flank|A1BG_uc002qsf.1_Intron|ZNF497_uc002qsi.1_Missense_Mutation_p.A415T|uc002qsj.1_5'Flank|uc002qsk.1_5'Flank	NM_198458	NP_940860	Q6ZNH5	ZN497_HUMAN	zinc finger protein 497	415	C2H2-type 12.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(2)	2		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;0.0278)		TCTGCGCAGGCGAAGGGTCGC	0.721												
ZNF446	55663	broad.mit.edu	37	19	58991071	58991071	+	Missense_Mutation	SNP	A	A	C			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr19:58991071A>C	uc002qsz.2	+	5	806	c.689A>C	c.(688-690)AAG>ACG	p.K230T	ZNF446_uc002qta.2_Intron|ZNF446_uc010eur.2_Missense_Mutation_p.K230T|SLC27A5_uc002qtb.2_RNA	NM_017908	NP_060378	Q9NWS9	ZN446_HUMAN	zinc finger protein 446	230	KRAB.				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)		ATGCTGGAGAAGTACGGCACA	0.667												
TMEM18	129787	broad.mit.edu	37	2	675542	675542	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr2:675542T>C	uc002qwl.2	-	2	240	c.146A>G	c.(145-147)TAC>TGC	p.Y49C	TMEM18_uc002qwk.2_RNA|uc002qwm.1_5'Flank	NM_152834	NP_690047	Q96B42	TMM18_HUMAN	transmembrane protein 18	49					cell migration	integral to membrane|nuclear membrane				ovary(1)	1	all_hematologic(175;0.0429)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;5.27e-05)|all_epithelial(98;2.11e-06)|Ovarian(717;0.0253)		all cancers(51;1.95e-21)|Epithelial(75;9.47e-21)|OV - Ovarian serous cystadenocarcinoma(76;8.15e-18)|GBM - Glioblastoma multiforme(21;0.0285)		CTGTAGTCTGTAGCTTCGGGA	0.527												
TPO	7173	broad.mit.edu	37	2	1500522	1500522	+	Missense_Mutation	SNP	C	C	T	rs113070603		TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr2:1500522C>T	uc002qww.2	+	13	2462	c.2371C>T	c.(2371-2373)CCT>TCT	p.P791S	TPO_uc010ewj.2_Intron|TPO_uc002qwu.2_Missense_Mutation_p.P734S|TPO_uc002qwr.2_Missense_Mutation_p.P791S|TPO_uc002qwx.2_Missense_Mutation_p.P734S|TPO_uc010yio.1_Missense_Mutation_p.P618S|TPO_uc010yip.1_Missense_Mutation_p.P791S|TPO_uc002qwy.1_Missense_Mutation_p.P131S|TPO_uc002qwz.2_Intron	NM_000547	NP_000538	P07202	PERT_HUMAN	thyroid peroxidase isoform a	791	Extracellular (Potential).|Sushi.				cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity			ovary(7)|pancreas(6)|skin(5)|lung(1)|kidney(1)	20	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	GGATTTCCAGCCTCCCCTCTG	0.493												
TPO	7173	broad.mit.edu	37	2	1544465	1544465	+	Silent	SNP	G	G	A	rs149611408		TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr2:1544465G>A	uc002qww.2	+	16	2809	c.2718G>A	c.(2716-2718)CCG>CCA	p.P906P	TPO_uc010ewj.2_Intron|TPO_uc002qwu.2_Silent_p.P849P|TPO_uc002qwr.2_Silent_p.P906P|TPO_uc002qwx.2_Silent_p.P849P|TPO_uc010yio.1_Silent_p.P733P|TPO_uc010yip.1_Silent_p.P862P|TPO_uc002qwy.1_Silent_p.P202P|TPO_uc002qwz.2_Intron	NM_000547	NP_000538	P07202	PERT_HUMAN	thyroid peroxidase isoform a	906	Cytoplasmic (Potential).				cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity			ovary(7)|pancreas(6)|skin(5)|lung(1)|kidney(1)	20	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	GGACCTCACCGCAGCGGGCCG	0.642												
PXDN	7837	broad.mit.edu	37	2	1670198	1670198	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr2:1670198G>A	uc002qxa.2	-	10	1143	c.1079C>T	c.(1078-1080)ACG>ATG	p.T360M	PXDN_uc002qxb.1_Missense_Mutation_p.T360M|PXDN_uc002qxc.1_Missense_Mutation_p.T177M	NM_012293	NP_036425	Q92626	PXDN_HUMAN	peroxidasin precursor	360	Ig-like C2-type 2.				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)		GCACTCCAGCGTGACGCTCTC	0.572												
PXDN	7837	broad.mit.edu	37	2	1684063	1684063	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr2:1684063G>A	uc002qxa.2	-	7	696	c.632C>T	c.(631-633)GCG>GTG	p.A211V	PXDN_uc002qxb.1_Missense_Mutation_p.A211V|PXDN_uc002qxc.1_Missense_Mutation_p.A28V	NM_012293	NP_036425	Q92626	PXDN_HUMAN	peroxidasin precursor	211	LRRCT.				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)		CCCCGACTCCGCGTAGGTTTT	0.577												
MYT1L	23040	broad.mit.edu	37	2	1926341	1926341	+	Silent	SNP	C	C	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr2:1926341C>T	uc002qxe.2	-	10	2027	c.1200G>A	c.(1198-1200)GCG>GCA	p.A400A	MYT1L_uc002qxd.2_Silent_p.A400A|MYT1L_uc010ewl.1_RNA	NM_015025	NP_055840	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	400					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(5)|central_nervous_system(1)	6	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		CATCCTCCTTCGCACAGCTGG	0.597												
COLEC11	78989	broad.mit.edu	37	2	3687869	3687869	+	Silent	SNP	T	T	C			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr2:3687869T>C	uc002qya.2	+	5	424	c.276T>C	c.(274-276)GGT>GGC	p.G92G	COLEC11_uc002qxz.2_Silent_p.G89G|COLEC11_uc002qyb.2_Silent_p.G68G|COLEC11_uc002qyc.2_Silent_p.G68G|COLEC11_uc010ewo.2_Silent_p.G44G|COLEC11_uc010ewp.2_Silent_p.G66G|COLEC11_uc010ewq.2_Silent_p.G42G|COLEC11_uc010ewr.2_Silent_p.G42G|COLEC11_uc010ews.2_Silent_p.G18G	NM_024027	NP_076932	Q9BWP8	COL11_HUMAN	collectin sub-family member 11 isoform a	92	Collagen-like.					collagen	mannose binding				0	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)			OV - Ovarian serous cystadenocarcinoma(76;0.127)		TATTTTCAGGTGAGAAAGGAG	0.388												
HPCAL1	3241	broad.mit.edu	37	2	10566920	10566920	+	Silent	SNP	C	C	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr2:10566920C>T	uc002raj.2	+	5	929	c.555C>T	c.(553-555)TGC>TGT	p.C185C	HPCAL1_uc002rak.2_Silent_p.C185C|HPCAL1_uc002ral.2_Silent_p.C185C|HPCAL1_uc010exe.2_RNA|HPCAL1_uc010exf.2_Silent_p.C185C	NM_002149	NP_002140	P37235	HPCL1_HUMAN	hippocalcin-like 1	185							calcium ion binding			pancreas(1)	1	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.214)		TGCTGCAGTGCGACCCCAGCA	0.572												
MSGN1	343930	broad.mit.edu	37	2	17998228	17998228	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr2:17998228G>A	uc010yjt.1	+	1	443	c.443G>A	c.(442-444)CGG>CAG	p.R148Q		NM_001105569	NP_001099039	A6NI15	MSGN1_HUMAN	mesogenin 1	148	Helix-loop-helix motif.				cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					CACACCCTCCGGAATTACCTG	0.572												
WDR35	57539	broad.mit.edu	37	2	20130156	20130156	+	Splice_Site	SNP	C	C	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr2:20130156C>T	uc002rdi.2	-	26	3262	c.3154_splice	c.e26+1	p.A1052_splice	WDR35_uc002rdj.2_Splice_Site_p.A1041_splice|WDR35_uc010ext.2_Splice_Site|WDR35_uc002rdh.2_Splice_Site_p.V525_splice	NM_001006657	NP_001006658	Q9P2L0	WDR35_HUMAN	WD repeat domain 35 isoform 1											ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GACATGCCCACCTGTCTTCAG	0.423												
GDF7	151449	broad.mit.edu	37	2	20870891	20870891	+	Silent	SNP	G	G	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr2:20870891G>A	uc002rdz.1	+	2	1635	c.1059G>A	c.(1057-1059)CCG>CCA	p.P353P		NM_182828	NP_878248	Q7Z4P5	GDF7_HUMAN	growth differentiation factor 7 preproprotein	353					activin receptor signaling pathway|BMP signaling pathway|growth|pathway-restricted SMAD protein phosphorylation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity				0	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCCGCAAGCCGTTGCACGTGG	0.537												
POMC	5443	broad.mit.edu	37	2	25384348	25384348	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr2:25384348T>C	uc002rfy.1	-	4	669	c.406A>G	c.(406-408)AAG>GAG	p.K136E	POMC_uc002rfz.1_Missense_Mutation_p.K136E|POMC_uc002rga.1_Missense_Mutation_p.K136E	NM_001035256	NP_001030333	P01189	COLI_HUMAN	proopiomelanocortin preproprotein	136					cell-cell signaling|cellular nitrogen compound metabolic process|cellular pigmentation|generation of precursor metabolites and energy|hormone biosynthetic process|negative regulation of tumor necrosis factor production|neuropeptide signaling pathway|peptide hormone processing|positive regulation of transcription from RNA polymerase II promoter|regulation of appetite|regulation of blood pressure	extracellular space|stored secretory granule	hormone activity|type 1 melanocortin receptor binding|type 3 melanocortin receptor binding|type 4 melanocortin receptor binding			ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Hydrocortisone(DB00741)|Loperamide(DB00836)|Trilostane(DB01108)	TAGGAGCGCTTGCCCTCGCGC	0.721												
DNMT3A	1788	broad.mit.edu	37	2	25523110	25523110	+	Silent	SNP	G	G	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr2:25523110G>A	uc002rgc.2	-	3	332	c.75C>T	c.(73-75)GAC>GAT	p.D25D	DNMT3A_uc002rgd.2_Silent_p.D25D|DNMT3A_uc010eyi.2_RNA|DNMT3A_uc002rge.2_Silent_p.D22D|DNMT3A_uc002rgf.2_Silent_p.D25D	NM_022552	NP_072046	Q9Y6K1	DNM3A_HUMAN	DNA cytosine methyltransferase 3 alpha isoform	25					regulation of gene expression by genetic imprinting	cytoplasm|euchromatin|nuclear matrix	DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding			haematopoietic_and_lymphoid_tissue(133)|lung(4)|ovary(3)	140	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCTCCTCTCCGTCCTGCAGGC	0.687			Mis|F|N|S		AML							
OTOF	9381	broad.mit.edu	37	2	26684657	26684657	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr2:26684657T>C	uc002rhk.2	-	43	5567	c.5440A>G	c.(5440-5442)ATG>GTG	p.M1814V	OTOF_uc010yla.1_Missense_Mutation_p.M544V|OTOF_uc002rhh.2_Missense_Mutation_p.M1047V|OTOF_uc002rhi.2_Missense_Mutation_p.M1124V|OTOF_uc002rhj.2_Missense_Mutation_p.M1047V	NM_194248	NP_919224	Q9HC10	OTOF_HUMAN	otoferlin isoform a	1814	Cytoplasmic (Potential).				cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding			ovary(3)|breast(2)|central_nervous_system(1)|pancreas(1)	7	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CAGGAGAACATGGACTCCTTC	0.607												
EMILIN1	11117	broad.mit.edu	37	2	27306603	27306603	+	Missense_Mutation	SNP	A	A	C			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr2:27306603A>C	uc002rii.3	+	4	2592	c.2164A>C	c.(2164-2166)AGC>CGC	p.S722R	EMILIN1_uc002rik.3_5'UTR	NM_007046	NP_008977	Q9Y6C2	EMIL1_HUMAN	elastin microfibril interfacer 1 precursor	722	Potential.				cell adhesion	collagen				pancreas(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCAGTGCCCCAGCTTAGAGGG	0.627												
EIF2B4	8890	broad.mit.edu	37	2	27591882	27591882	+	Missense_Mutation	SNP	T	T	G			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr2:27591882T>G	uc002rkb.2	-	4	552	c.409A>C	c.(409-411)ACC>CCC	p.T137P	EIF2B4_uc002rjz.2_Missense_Mutation_p.T157P|EIF2B4_uc002rka.2_Missense_Mutation_p.T122P|EIF2B4_uc002rkc.2_Missense_Mutation_p.T136P|EIF2B4_uc002rkd.2_5'UTR|EIF2B4_uc002rke.2_Missense_Mutation_p.T106P|EIF2B4_uc002rkf.1_Missense_Mutation_p.T106P|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,	137					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)					CCTGAGGGGGTTTCTCCAGCT	0.552												
C2orf16	84226	broad.mit.edu	37	2	27801187	27801187	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr2:27801187C>T	uc002rkz.3	+	1	1799	c.1748C>T	c.(1747-1749)ACA>ATA	p.T583I		NM_032266	NP_115642	Q68DN1	CB016_HUMAN	hypothetical protein LOC84226	583										large_intestine(1)	1	Acute lymphoblastic leukemia(172;0.155)					GTGGAGTTGACAGGGTTTCAA	0.413												
C2orf16	84226	broad.mit.edu	37	2	27803773	27803773	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr2:27803773A>G	uc002rkz.3	+	1	4385	c.4334A>G	c.(4333-4335)TAC>TGC	p.Y1445C	ZNF512_uc010ylv.1_5'Flank|ZNF512_uc010ylw.1_5'Flank|ZNF512_uc002rlb.2_5'Flank|ZNF512_uc010ylx.1_5'Flank|ZNF512_uc002rlc.2_5'Flank|ZNF512_uc002rla.2_5'Flank|ZNF512_uc010yly.1_5'Flank|ZNF512_uc010ylz.1_5'Flank	NM_032266	NP_115642	Q68DN1	CB016_HUMAN	hypothetical protein LOC84226	1445										large_intestine(1)	1	Acute lymphoblastic leukemia(172;0.155)					AGAAGAGCTTACTCTTTCCAA	0.527												
RBKS	64080	broad.mit.edu	37	2	28050499	28050499	+	Silent	SNP	G	G	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr2:28050499G>A	uc002rlo.1	-	7	741	c.730C>T	c.(730-732)CTG>TTG	p.L244L	RBKS_uc010ezi.1_Silent_p.L177L|RBKS_uc010ymg.1_Silent_p.L244L	NM_022128	NP_071411	Q9H477	RBSK_HUMAN	ribokinase	244					D-ribose metabolic process		ATP binding|ribokinase activity			ovary(1)|skin(1)	2	Acute lymphoblastic leukemia(172;0.155)					GTCTGTGACAGCACCACACAT	0.493												
TTC27	55622	broad.mit.edu	37	2	32961876	32961876	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr2:32961876A>G	uc002rom.2	+	12	1676	c.1445A>G	c.(1444-1446)CAC>CGC	p.H482R	TTC27_uc010ymx.1_Missense_Mutation_p.H432R|TTC27_uc002ron.2_RNA	NM_017735	NP_060205	Q6P3X3	TTC27_HUMAN	tetratricopeptide repeat domain 27	482	TPR 2.						protein binding			central_nervous_system(1)	1						GCCGGGCAGCACGGAAAGGTA	0.423												
DHX57	90957	broad.mit.edu	37	2	39095333	39095333	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr2:39095333C>T	uc002rrf.2	-	2	314	c.215G>A	c.(214-216)CGC>CAC	p.R72H	DHX57_uc002rre.2_5'Flank|DHX57_uc002rrg.2_Missense_Mutation_p.R72H	NM_198963	NP_945314	Q6P158	DHX57_HUMAN	DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57	72							ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding|zinc ion binding			ovary(1)|lung(1)|skin(1)	3		all_hematologic(82;0.248)				CCTGGAAGGGCGCCTTGATTC	0.338												
PKDCC	91461	broad.mit.edu	37	2	42281307	42281307	+	Silent	SNP	C	C	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr2:42281307C>T	uc002rsg.2	+	3	1073	c.894C>T	c.(892-894)GAC>GAT	p.D298D		NM_138370	NP_612379	Q504Y2	PKDCC_HUMAN	protein kinase-like protein SgK493	298	Protein kinase.				cell differentiation|embryonic digestive tract development|lung alveolus development|negative regulation of Golgi to plasma membrane protein transport|ossification|palate development|positive regulation of bone mineralization|positive regulation of chondrocyte differentiation|protein transport	Golgi apparatus	ATP binding|protein kinase activity			breast(1)	1						ACCTGGATGACGCACGTGTGG	0.647												
COX7A2L	9167	broad.mit.edu	37	2	42578377	42578377	+	Silent	SNP	C	C	T	rs79591809	by1000genomes	TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr2:42578377C>T	uc002rsk.2	-	3	382	c.327G>A	c.(325-327)TCG>TCA	p.S109S	COX7A2L_uc002rsl.2_RNA	NM_004718	NP_004709	O14548	COX7R_HUMAN	cytochrome c oxidase subunit VIIa polypeptide 2	109					respiratory electron transport chain	mitochondrial respiratory chain	cytochrome-c oxidase activity|electron carrier activity				0						TTTTGGGCTGCGAAGCCATGT	0.453												
MCFD2	90411	broad.mit.edu	37	2	47135054	47135054	+	Silent	SNP	C	C	T	rs144700781		TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr2:47135054C>T	uc002rvk.2	-	3	298	c.204G>A	c.(202-204)TCG>TCA	p.S68S	MCFD2_uc002rvl.2_Silent_p.S16S|MCFD2_uc010fba.2_Silent_p.S66S|MCFD2_uc010yof.1_Silent_p.S49S	NM_139279	NP_644808	Q8NI22	MCFD2_HUMAN	multiple coagulation factor deficiency 2	68	EF-hand 1.				post-translational protein modification|protein N-linked glycosylation via asparagine|protein transport|vesicle-mediated transport	endoplasmic reticulum|ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment|Golgi apparatus	calcium ion binding			central_nervous_system(1)	1		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114)		Antihemophilic Factor(DB00025)	ATTCTTGTGGCGACATCTCCG	0.428												
PSME4	23198	broad.mit.edu	37	2	54164655	54164655	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr2:54164655C>T	uc002rxp.2	-	5	624	c.568G>A	c.(568-570)GCT>ACT	p.A190T	PSME4_uc010yop.1_Missense_Mutation_p.A76T|PSME4_uc010yoq.1_RNA|PSME4_uc010fbu.1_5'UTR|PSME4_uc010fbv.1_Intron	NM_014614	NP_055429	Q14997	PSME4_HUMAN	proteasome (prosome, macropain) activator	190					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|spermatogenesis|viral reproduction	nuclear speck|proteasome complex	binding			ovary(2)|breast(2)|pancreas(1)	5			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			AGCATCTCAGCGGTGGCATCT	0.368												
ARHGAP25	9938	broad.mit.edu	37	2	69049486	69049486	+	Silent	SNP	T	T	C			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr2:69049486T>C	uc002seu.2	+	10	1576	c.1212T>C	c.(1210-1212)GAT>GAC	p.D404D	ARHGAP25_uc010fdg.2_Silent_p.D405D|ARHGAP25_uc010yql.1_Silent_p.D365D|ARHGAP25_uc002sew.2_Silent_p.D397D|ARHGAP25_uc002sex.2_Silent_p.D398D|ARHGAP25_uc002sey.2_Silent_p.D131D	NM_001007231	NP_001007232	P42331	RHG25_HUMAN	Rho GTPase activating protein 25 isoform a	404					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			ovary(2)|breast(2)	4						GCGACTCTGATACAACCAGCC	0.517												
AAK1	22848	broad.mit.edu	37	2	69741805	69741805	+	Missense_Mutation	SNP	T	T	G			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr2:69741805T>G	uc002sfp.2	-	13	2079	c.1574A>C	c.(1573-1575)CAG>CCG	p.Q525P	AAK1_uc010fdk.2_Missense_Mutation_p.Q525P|AAK1_uc010yqm.1_Missense_Mutation_p.Q525P	NM_014911	NP_055726	Q2M2I8	AAK1_HUMAN	AP2 associated kinase 1	525	Gln-rich.					coated pit|mitochondrion|plasma membrane	ATP binding|protein serine/threonine kinase activity				0						CATTAGCTGCTGTTGAGAGCC	0.388												
ZNF638	27332	broad.mit.edu	37	2	71577170	71577170	+	Silent	SNP	A	A	G			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr2:71577170A>G	uc002shx.2	+	2	1405	c.1086A>G	c.(1084-1086)GTA>GTG	p.V362V	ZNF638_uc010fec.2_Silent_p.V468V|ZNF638_uc010yqw.1_Intron|ZNF638_uc002shw.2_Silent_p.V362V|ZNF638_uc002shy.2_Silent_p.V362V|ZNF638_uc002shz.2_Silent_p.V362V|ZNF638_uc002sia.2_Silent_p.V362V|ZNF638_uc002sib.1_Silent_p.V362V	NM_014497	NP_055312	Q14966	ZN638_HUMAN	zinc finger protein 638	362					RNA splicing	cytoplasm|nuclear speck	double-stranded DNA binding|nucleotide binding|RNA binding|zinc ion binding			pancreas(2)|ovary(1)|skin(1)	4						CATCTAACGTACATGTTGGAT	0.428												
CCDC142	84865	broad.mit.edu	37	2	74702431	74702431	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr2:74702431C>T	uc002slr.2	-	7	2110	c.1717G>A	c.(1717-1719)GCC>ACC	p.A573T	MRPL53_uc002sln.2_5'Flank|CCDC142_uc002slo.2_RNA|CCDC142_uc002slq.2_Missense_Mutation_p.A566T|CCDC142_uc002slp.2_Missense_Mutation_p.A573T	NM_032779	NP_116168	Q17RM4	CC142_HUMAN	coiled-coil domain containing 142	573										central_nervous_system(1)	1						AGGGCAGGGGCCTGGGCTTGA	0.572												
DQX1	165545	broad.mit.edu	37	2	74746779	74746779	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr2:74746779C>T	uc010yrw.1	-	10	1875	c.1710G>A	c.(1708-1710)ATG>ATA	p.M570I	DQX1_uc002smc.2_Missense_Mutation_p.M131I	NM_133637	NP_598376	Q8TE96	DQX1_HUMAN	DEAQ box polypeptide 1 (RNA-dependent ATPase)	570						nucleus	ATP binding|helicase activity|nucleic acid binding			ovary(2)	2						CAATTCGTTGCATGAGTTCTA	0.512												
TACR1	6869	broad.mit.edu	37	2	75347784	75347784	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr2:75347784T>C	uc002sng.2	-	2	1085	c.500A>G	c.(499-501)TAC>TGC	p.Y167C	TACR1_uc002snh.2_Missense_Mutation_p.Y167C	NM_001058	NP_001049	P25103	NK1R_HUMAN	tachykinin receptor 1 isoform long	167	Helical; Name=4; (Potential).				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|detection of abiotic stimulus|mechanosensory behavior	integral to plasma membrane	protein binding			ovary(1)	1					Aprepitant(DB00673)|Ketamine(DB01221)|Vapreotide(DB04894)	GGTTGAGTAGTAGCCCTGGGG	0.547												
CTNNA2	1496	broad.mit.edu	37	2	80773145	80773145	+	Silent	SNP	C	C	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr2:80773145C>T	uc010ysh.1	+	10	1502	c.1497C>T	c.(1495-1497)GCC>GCT	p.A499A	CTNNA2_uc010yse.1_Silent_p.A499A|CTNNA2_uc010ysf.1_Silent_p.A499A|CTNNA2_uc010ysg.1_Silent_p.A499A|CTNNA2_uc010ysi.1_Silent_p.A131A	NM_004389	NP_004380	P26232	CTNA2_HUMAN	catenin, alpha 2 isoform 1	499					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton			pancreas(4)|lung(3)|breast(1)|skin(1)	9						TGACAGAGGCCGTGGATGACA	0.532												
SUCLG1	8802	broad.mit.edu	37	2	84668521	84668521	+	Silent	SNP	A	A	G			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr2:84668521A>G	uc002son.2	-	4	574	c.381T>C	c.(379-381)GCT>GCC	p.A127A	SUCLG1_uc010ysk.1_Silent_p.A114A	NM_003849	NP_003840	P53597	SUCA_HUMAN	succinate-CoA ligase, GDP-forming alpha subunit	127					tricarboxylic acid cycle		ATP citrate synthase activity|GTP binding|succinate-CoA ligase (GDP-forming) activity				0					Succinic acid(DB00139)	CATTAATGGCAGCAGCAGCAA	0.453												
TCF7L1	83439	broad.mit.edu	37	2	85536512	85536512	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr2:85536512C>T	uc002soy.2	+	12	1768	c.1694C>T	c.(1693-1695)ACG>ATG	p.T565M		NM_031283	NP_112573	Q9HCS4	TF7L1_HUMAN	HMG-box transcription factor TCF-3	565					chromatin organization|regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			lung(1)|breast(1)|central_nervous_system(1)	3						TTCCCCGCCACGCTCCATGCC	0.697												
GGCX	2677	broad.mit.edu	37	2	85779652	85779652	+	Silent	SNP	G	G	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr2:85779652G>A	uc002sps.2	-	10	1432	c.1326C>T	c.(1324-1326)GAC>GAT	p.D442D	GGCX_uc010yss.1_Silent_p.D281D|GGCX_uc010yst.1_Silent_p.D385D	NM_000821	NP_000812	P38435	VKGC_HUMAN	gamma-glutamyl carboxylase isoform 1	442	Lumenal (Potential).				blood coagulation|peptidyl-glutamic acid carboxylation|post-translational protein modification	endoplasmic reticulum membrane|integral to membrane|membrane fraction	gamma-glutamyl carboxylase activity			ovary(1)	1					Anisindione(DB01125)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Drotrecogin alfa(DB00055)|L-Glutamic Acid(DB00142)|Menadione(DB00170)|Phytonadione(DB01022)	GCTTCAGCATGTCTGCATGAT	0.478											OREG0014747	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
POLR1A	25885	broad.mit.edu	37	2	86266558	86266558	+	Silent	SNP	G	G	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr2:86266558G>A	uc002sqs.2	-	26	4147	c.3768C>T	c.(3766-3768)AGC>AGT	p.S1256S	POLR1A_uc010ytb.1_Silent_p.S622S|POLR1A_uc002sqt.1_Silent_p.S279S	NM_015425	NP_056240	O95602	RPA1_HUMAN	DNA-directed RNA polymerase I A	1256					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	DNA-directed RNA polymerase I complex|nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding			ovary(2)|skin(1)	3						TGATGTTGGCGCTGGCCACCA	0.522												
SNRNP200	23020	broad.mit.edu	37	2	96956125	96956125	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr2:96956125A>G	uc002svu.2	-	20	2767	c.2681T>C	c.(2680-2682)GTT>GCT	p.V894A	SNRNP200_uc002svw.1_5'Flank	NM_014014	NP_054733	O75643	U520_HUMAN	activating signal cointegrator 1 complex subunit	894	Helicase C-terminal 1.					catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			ovary(5)|skin(4)|large_intestine(1)	10						AAGCTTTGAAACCATCTGGCT	0.478												
ZAP70	7535	broad.mit.edu	37	2	98354255	98354255	+	Silent	SNP	C	C	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr2:98354255C>T	uc002syd.1	+	12	1725	c.1518C>T	c.(1516-1518)TAC>TAT	p.Y506Y	ZAP70_uc002sye.1_Silent_p.Y396Y|ZAP70_uc002syf.1_Silent_p.Y199Y	NM_001079	NP_001070	P43403	ZAP70_HUMAN	zeta-chain associated protein kinase 70kDa	506	Protein kinase.				immune response|intracellular protein kinase cascade|positive thymic T cell selection|T cell receptor signaling pathway	cytosol|T cell receptor complex	ATP binding|non-membrane spanning protein tyrosine kinase activity			lung(4)|upper_aerodigestive_tract(1)|ovary(1)	6						TCAAGTGGTACGCACCCGAAT	0.632												
TSGA10	80705	broad.mit.edu	37	2	99695187	99695187	+	Missense_Mutation	SNP	G	G	T	rs17852533		TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr2:99695187G>T	uc002szg.3	-	10	1445	c.817C>A	c.(817-819)CTG>ATG	p.L273M	TSGA10_uc002szh.3_Missense_Mutation_p.L273M|TSGA10_uc002szi.3_Missense_Mutation_p.L273M|TSGA10_uc010fin.1_Missense_Mutation_p.L273M|TSGA10_uc010yvn.1_Missense_Mutation_p.L273M	NM_182911	NP_878915	Q9BZW7	TSG10_HUMAN	testis specific, 10	273				L -> M (in Ref. 5; AAH28366).	spermatogenesis	cytoplasm|nuclear membrane				ovary(1)|central_nervous_system(1)	2						CATGCTTGCAGGCATTCCTTT	0.378												
C2orf15	150590	broad.mit.edu	37	2	99767017	99767017	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr2:99767017T>C	uc002szk.2	+	4	497	c.98T>C	c.(97-99)ATC>ACC	p.I33T	TSGA10_uc002szi.3_Intron|MRPL30_uc002szl.1_Intron	NM_144706	NP_653307	Q8WU43	CB015_HUMAN	hypothetical protein LOC150590	33											0						TGTTCAGCTATCCTAATGGGA	0.328												
EIF5B	9669	broad.mit.edu	37	2	99978135	99978135	+	Silent	SNP	A	A	G			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr2:99978135A>G	uc002tab.2	+	4	955	c.771A>G	c.(769-771)GAA>GAG	p.E257E		NM_015904	NP_056988	O60841	IF2P_HUMAN	eukaryotic translation initiation factor 5B	257					regulation of translational initiation	cytosol	GTP binding|GTPase activity|protein binding|translation initiation factor activity			ovary(2)|pancreas(1)	3						AAGAAAAAGAAGAGTTAGAAA	0.378												
NPAS2	4862	broad.mit.edu	37	2	101565870	101565870	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr2:101565870A>G	uc002tap.1	+	7	812	c.526A>G	c.(526-528)AGC>GGC	p.S176G	NPAS2_uc010yvt.1_Missense_Mutation_p.S241G	NM_002518	NP_002509	Q99743	NPAS2_HUMAN	neuronal PAS domain protein 2	176					central nervous system development|positive regulation of transcription from RNA polymerase II promoter|rhythmic process	transcription factor complex	DNA binding|Hsp90 protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			ovary(3)|upper_aerodigestive_tract(1)	4						TCTCAGAGGCAGCTTGAACCC	0.388												
MAP4K4	9448	broad.mit.edu	37	2	102476242	102476242	+	Silent	SNP	A	A	G			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr2:102476242A>G	uc002tbg.2	+	15	1675	c.1620A>G	c.(1618-1620)CCA>CCG	p.P540P	MAP4K4_uc002tbc.2_Silent_p.P540P|MAP4K4_uc002tbd.2_Silent_p.P509P|MAP4K4_uc002tbe.2_Silent_p.P509P|MAP4K4_uc002tbf.2_Silent_p.P509P|MAP4K4_uc010yvy.1_Silent_p.P509P|MAP4K4_uc002tbh.2_Silent_p.P509P|MAP4K4_uc002tbi.2_Silent_p.P393P|MAP4K4_uc010yvz.1_Silent_p.P489P|MAP4K4_uc002tbk.2_Silent_p.P49P|MAP4K4_uc002tbj.1_Silent_p.P405P	NM_145687	NP_663720	O95819	M4K4_HUMAN	mitogen-activated protein kinase kinase kinase	540					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						AGCAGCCGCCACCACCGCAGC	0.592												
UXS1	80146	broad.mit.edu	37	2	106717534	106717534	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr2:106717534C>T	uc002tdm.2	-	12	1047	c.949G>A	c.(949-951)GTC>ATC	p.V317I	UXS1_uc002tdl.2_Missense_Mutation_p.V149I|UXS1_uc002tdn.2_Missense_Mutation_p.V322I|UXS1_uc002tdo.2_Missense_Mutation_p.V260I|UXS1_uc010ywh.1_Missense_Mutation_p.V161I	NM_025076	NP_079352	Q8NBZ7	UXS1_HUMAN	UDP-glucuronate decarboxylase 1	317	Lumenal (Potential).				cellular metabolic process	Golgi cisterna membrane|integral to membrane	coenzyme binding|UDP-glucuronate decarboxylase activity			ovary(2)	2						GGGCTGCTGACGTTGCTGTTC	0.552												
SULT1C4	27233	broad.mit.edu	37	2	108994805	108994805	+	Silent	SNP	C	C	T	rs144464562		TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr2:108994805C>T	uc002tea.1	+	1	385	c.12C>T	c.(10-12)CAC>CAT	p.H4H	SULT1C4_uc002tdz.2_Silent_p.H4H|SULT1C4_uc010ywr.1_RNA|SULT1C4_uc002teb.1_Silent_p.H4H	NM_006588	NP_006579	O75897	ST1C4_HUMAN	sulfotransferase family, cytosolic, 1C, member	4					3'-phosphoadenosine 5'-phosphosulfate metabolic process|sulfation|xenobiotic metabolic process	cytosol	sulfotransferase activity				0						TGGCCTTACACGACATGGAGG	0.448												
ANAPC1	64682	broad.mit.edu	37	2	112601029	112601029	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr2:112601029A>G	uc002thi.2	-	17	2247	c.2000T>C	c.(1999-2001)ATG>ACG	p.M667T		NM_022662	NP_073153	Q9H1A4	APC1_HUMAN	anaphase promoting complex subunit 1	667					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm				skin(2)	2						ATAACCCATCATGTTCATGAG	0.378												
ANAPC1	64682	broad.mit.edu	37	2	112621311	112621311	+	Silent	SNP	T	T	C			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr2:112621311T>C	uc002thi.2	-	9	1240	c.993A>G	c.(991-993)TCA>TCG	p.S331S		NM_022662	NP_073153	Q9H1A4	APC1_HUMAN	anaphase promoting complex subunit 1	331					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm				skin(2)	2						GTGATGAGGTTGAGCGACTCT	0.473												
IL1F9	56300	broad.mit.edu	37	2	113742478	113742478	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr2:113742478G>A	uc002tio.1	+	5	431	c.362G>A	c.(361-363)CGT>CAT	p.R121H	IL1F9_uc010fkr.1_Missense_Mutation_p.R86H	NM_019618	NP_062564	Q9NZH8	IL36G_HUMAN	interleukin 1 family, member 9	121					cell-cell signaling	extracellular space	cytokine activity|interleukin-1 receptor antagonist activity				0						CTTTTCTACCGTGCCAAGACT	0.512												
SLC35F5	80255	broad.mit.edu	37	2	114512832	114512832	+	Silent	SNP	A	A	G			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr2:114512832A>G	uc002tku.1	-	3	607	c.183T>C	c.(181-183)AGT>AGC	p.S61S	SLC35F5_uc002tkt.2_RNA|SLC35F5_uc002tkv.2_Silent_p.S55S|SLC35F5_uc002tkw.2_Silent_p.S61S	NM_025181	NP_079457	Q8WV83	S35F5_HUMAN	solute carrier family 35, member F5	61					transport	integral to membrane					0						GAGTGAAACCACTGTTCTGGG	0.393												
DPP10	57628	broad.mit.edu	37	2	116520172	116520172	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr2:116520172T>C	uc002tla.1	+	12	1556	c.1099T>C	c.(1099-1101)TGG>CGG	p.W367R	DPP10_uc002tlb.1_Missense_Mutation_p.W317R|DPP10_uc002tlc.1_Missense_Mutation_p.W363R|DPP10_uc002tle.2_Missense_Mutation_p.W371R|DPP10_uc002tlf.1_Missense_Mutation_p.W360R	NM_020868	NP_065919	Q8N608	DPP10_HUMAN	dipeptidyl peptidase 10 isoform long	367	Extracellular (Potential).				proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity			ovary(5)|large_intestine(2)|skin(2)|breast(1)	10						ATCAGATACGTGGCTCTCTCA	0.343												
CNTNAP5	129684	broad.mit.edu	37	2	125192170	125192170	+	Missense_Mutation	SNP	A	A	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr2:125192170A>T	uc002tno.2	+	5	1003	c.639A>T	c.(637-639)CAA>CAT	p.Q213H	CNTNAP5_uc010flu.2_Missense_Mutation_p.Q213H	NM_130773	NP_570129	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5 precursor	213	Laminin G-like 1.|Extracellular (Potential).				cell adhesion|signal transduction	integral to membrane	receptor binding			ovary(10)	10				BRCA - Breast invasive adenocarcinoma(221;0.248)		AGAGCATGCAAGGAGATGGGG	0.507												
CYP27C1	339761	broad.mit.edu	37	2	127952980	127952980	+	Missense_Mutation	SNP	C	C	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr2:127952980C>A	uc002tod.2	-	5	781	c.650G>T	c.(649-651)AGG>ATG	p.R217M		NM_001001665	NP_001001665	Q4G0S4	C27C1_HUMAN	cytochrome P450, family 27, subfamily C,	217						membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen				0	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.071)		TGGAACATGCCTTTCCCCTAA	0.532												
PROC	5624	broad.mit.edu	37	2	128186037	128186037	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr2:128186037G>A	uc002tok.2	+	9	974	c.901G>A	c.(901-903)GCA>ACA	p.A301T	PROC_uc002tol.2_Missense_Mutation_p.A322T|PROC_uc010yzi.1_Missense_Mutation_p.A357T|PROC_uc010yzj.1_Missense_Mutation_p.A196T|PROC_uc010yzk.1_Missense_Mutation_p.A356T|PROC_uc002tom.2_Missense_Mutation_p.A335T	NM_000312	NP_000303	P04070	PROC_HUMAN	protein C	301	Peptidase S1.		A -> V (in patients with PROC deficiency).|A -> T (in patients with PROC deficiency).		blood coagulation|leukocyte migration|negative regulation of apoptosis|negative regulation of blood coagulation|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|Golgi lumen|plasma membrane	calcium ion binding|protein binding|serine-type endopeptidase activity				0	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0673)	Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)|Sodium Tetradecyl Sulfate(DB00464)	CAATGACATCGCACTGCTGCA	0.637												
LIMS2	55679	broad.mit.edu	37	2	128400603	128400603	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr2:128400603A>G	uc002tpa.2	-	5	570	c.404T>C	c.(403-405)CTG>CCG	p.L135P	LIMS2_uc002tou.2_5'Flank|LIMS2_uc002tov.2_5'UTR|LIMS2_uc002tow.2_5'UTR|LIMS2_uc002tox.2_Missense_Mutation_p.L159P|LIMS2_uc010fmb.2_Missense_Mutation_p.L45P|LIMS2_uc002toy.2_Missense_Mutation_p.L130P|LIMS2_uc010yzm.1_Missense_Mutation_p.L157P|LIMS2_uc002toz.2_Missense_Mutation_p.L130P|LIMS2_uc002tpb.2_Missense_Mutation_p.L130P|GPR17_uc010yzn.1_5'Flank|GPR17_uc002tpc.2_5'Flank|GPR17_uc010yzo.1_5'Flank|GPR17_uc002tpd.2_5'Flank	NM_001161403	NP_001154875	Q7Z4I7	LIMS2_HUMAN	LIM and senescent cell antigen-like domains 2	135					cell junction assembly	cytosol|focal adhesion|nucleus	zinc ion binding				0	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0681)		GTACTTGCCCAGGCCCTTGGC	0.657												
SAP130	79595	broad.mit.edu	37	2	128712741	128712741	+	Silent	SNP	G	G	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr2:128712741G>A	uc002tpp.2	-	15	2346	c.2214C>T	c.(2212-2214)GCC>GCT	p.A738A	SAP130_uc002tpn.2_Silent_p.A498A|SAP130_uc002tpo.2_Silent_p.A518A|SAP130_uc010fmd.2_Silent_p.A773A|SAP130_uc002tpq.1_Silent_p.A746A	NM_024545	NP_078821	Q9H0E3	SP130_HUMAN	Sin3A-associated protein, 130kDa isoform b	738	Pro-rich.				histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	STAGA complex	transcription coactivator activity			ovary(2)|skin(2)	4	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0771)		AAAGGGCAACGGCTGGTTGTG	0.577												
CCDC74B	91409	broad.mit.edu	37	2	130897150	130897150	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr2:130897150C>T	uc002tqm.1	-	8	1183	c.1121G>A	c.(1120-1122)CGC>CAC	p.R374H	CCDC74B_uc010yzw.1_Missense_Mutation_p.R476H|CCDC74B_uc002tqn.1_Missense_Mutation_p.R308H	NM_207310	NP_997193	Q96LY2	CC74B_HUMAN	coiled-coil domain containing 74B	374											0	Colorectal(110;0.1)					GCGATGCAGGCGCCGTTTCTG	0.597												
TUBA3E	112714	broad.mit.edu	37	2	130951615	130951615	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr2:130951615A>G	uc002tqv.2	-	4	901	c.800T>C	c.(799-801)TTC>TCC	p.F267S		NM_207312	NP_997195	Q6PEY2	TBA3E_HUMAN	tubulin, alpha 3e	267					microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			skin(1)	1	Colorectal(110;0.1)					GGCCAGGGGGAAGTGGATGCG	0.602												
NCKAP5	344148	broad.mit.edu	37	2	133542601	133542601	+	Missense_Mutation	SNP	T	T	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr2:133542601T>A	uc002ttp.2	-	14	2157	c.1783A>T	c.(1783-1785)AGC>TGC	p.S595C	NCKAP5_uc002ttq.2_Intron	NM_207363	NP_997246	O14513	NCKP5_HUMAN	Nck-associated protein 5 isoform 1	595							protein binding				0						TCATCACTGCTCTCTATGTGC	0.527												
THSD7B	80731	broad.mit.edu	37	2	138208468	138208468	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr2:138208468G>A	uc002tva.1	+	14	2920	c.2920G>A	c.(2920-2922)GAT>AAT	p.D974N	THSD7B_uc010zbj.1_Intron	NM_001080427	NP_001073896			thrombospondin, type I, domain containing 7B											ovary(4)|central_nervous_system(2)|pancreas(1)	7				BRCA - Breast invasive adenocarcinoma(221;0.19)		CAAGTTAAGCGATTGGTCTAG	0.388												
LRP1B	53353	broad.mit.edu	37	2	141458106	141458106	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr2:141458106G>A	uc002tvj.1	-	41	7484	c.6512C>T	c.(6511-6513)GCC>GTC	p.A2171V		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	2171	Extracellular (Potential).|EGF-like 5.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		ATATCCATGGGCACAAGCACA	0.408										TSP Lung(27;0.18)		
ZEB2	9839	broad.mit.edu	37	2	145156685	145156685	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr2:145156685T>C	uc002tvu.2	-	8	2549	c.2069A>G	c.(2068-2070)GAA>GGA	p.E690G	ZEB2_uc002tvv.2_Missense_Mutation_p.E684G|ZEB2_uc010zbm.1_Missense_Mutation_p.E661G|ZEB2_uc010fnp.2_Intron|ZEB2_uc010fnq.1_Missense_Mutation_p.E719G	NM_014795	NP_055610	O60315	ZEB2_HUMAN	zinc finger homeobox 1b	690	Homeobox; atypical.					cytoplasm|nucleolus	phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding			ovary(5)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)	9				BRCA - Breast invasive adenocarcinoma(221;0.112)		TTCAAACCATTCCTTCACAAA	0.468												
GPD2	2820	broad.mit.edu	37	2	157425876	157425876	+	Silent	SNP	T	T	C			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr2:157425876T>C	uc002tzf.3	+	11	1662	c.1302T>C	c.(1300-1302)GGT>GGC	p.G434G	GPD2_uc010zch.1_Silent_p.G207G|GPD2_uc002tzd.3_Silent_p.G434G|GPD2_uc002tze.1_RNA	NM_001083112	NP_001076581	P43304	GPDM_HUMAN	glycerol-3-phosphate dehydrogenase 2,	434					cellular lipid metabolic process	glycerol-3-phosphate dehydrogenase complex|mitochondrial inner membrane	calcium ion binding|sn-glycerol-3-phosphate:ubiquinone-8 oxidoreductase activity			ovary(1)	1						TCTTTATAGGTGGAAAGTGGA	0.343												
ACVR1	90	broad.mit.edu	37	2	158634684	158634684	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr2:158634684C>T	uc002tzm.3	-	6	841	c.502G>A	c.(502-504)GAA>AAA	p.E168K	ACVR1_uc002tzn.3_Missense_Mutation_p.E168K|ACVR1_uc010fog.2_Missense_Mutation_p.E168K	NM_001111067	NP_001104537	Q04771	ACVR1_HUMAN	activin A receptor, type I precursor	168	Cytoplasmic (Potential).				BMP signaling pathway|G1/S transition of mitotic cell cycle|negative regulation of activin receptor signaling pathway|negative regulation of apoptosis|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	activin receptor complex	activin binding|ATP binding|follistatin binding|metal ion binding|protein homodimerization activity|SMAD binding|transforming growth factor beta binding			ovary(2)|skin(1)	3				BRCA - Breast invasive adenocarcinoma(221;0.104)	Adenosine triphosphate(DB00171)	ATGAGCCCTTCGATAGTGCCA	0.498												
TANC1	85461	broad.mit.edu	37	2	160019872	160019872	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr2:160019872T>C	uc002uag.2	+	8	1035	c.761T>C	c.(760-762)TTA>TCA	p.L254S	TANC1_uc010fol.1_Missense_Mutation_p.L148S|TANC1_uc010zcm.1_Missense_Mutation_p.L253S|TANC1_uc010fom.1_Intron	NM_033394	NP_203752	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and	254						cell junction|postsynaptic density|postsynaptic membrane	binding			ovary(2)|central_nervous_system(1)	3						AACCTAAGATTAGGGGTTCAG	0.493												
TANC1	85461	broad.mit.edu	37	2	160031474	160031474	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr2:160031474A>G	uc002uag.2	+	12	1788	c.1514A>G	c.(1513-1515)TAC>TGC	p.Y505C	TANC1_uc010fol.1_Missense_Mutation_p.Y399C|TANC1_uc010zcm.1_Missense_Mutation_p.Y497C|TANC1_uc010fom.1_Missense_Mutation_p.Y311C|TANC1_uc002uai.1_5'Flank	NM_033394	NP_203752	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and	505						cell junction|postsynaptic density|postsynaptic membrane	binding			ovary(2)|central_nervous_system(1)	3						GTGGTGGCCTACCACTACTGC	0.577												
XIRP2	129446	broad.mit.edu	37	2	168104267	168104267	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr2:168104267G>A	uc002udx.2	+	8	6383	c.6365G>A	c.(6364-6366)GGA>GAA	p.G2122E	XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.G1947E|XIRP2_uc010fpq.2_Missense_Mutation_p.G1900E|XIRP2_uc010fpr.2_Intron|XIRP2_uc010fps.1_5'UTR	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2 isoform 1	1947					actin cytoskeleton organization	cell junction	actin binding			skin(7)|ovary(6)|pancreas(1)	14						AAAACCGTTGGAAAGCAACAG	0.348												
XIRP2	129446	broad.mit.edu	37	2	168107832	168107832	+	Missense_Mutation	SNP	G	G	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr2:168107832G>T	uc002udx.2	+	8	9948	c.9930G>T	c.(9928-9930)CAG>CAT	p.Q3310H	XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.Q3135H|XIRP2_uc010fpq.2_Missense_Mutation_p.Q3088H|XIRP2_uc010fpr.2_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2 isoform 1	3135					actin cytoskeleton organization	cell junction	actin binding			skin(7)|ovary(6)|pancreas(1)	14						AGCACACACAGAGATATGAAG	0.458												
ABCB11	8647	broad.mit.edu	37	2	169828384	169828384	+	Silent	SNP	G	G	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr2:169828384G>T	uc002ueo.1	-	14	1737	c.1611C>A	c.(1609-1611)GCC>GCA	p.A537A	ABCB11_uc010zda.1_5'UTR|ABCB11_uc010zdb.1_Silent_p.A13A	NM_003742	NP_003733	O95342	ABCBB_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP),	537	Cytoplasmic (Potential).|ABC transporter 1.				bile acid biosynthetic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism			ovary(2)|large_intestine(2)|breast(1)	5					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016)	TGAAGTTGTAGGCATTGGCCT	0.448												
LRP2	4036	broad.mit.edu	37	2	170134319	170134319	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr2:170134319G>A	uc002ues.2	-	13	1921	c.1708C>T	c.(1708-1710)CGT>TGT	p.R570C	LRP2_uc010zdf.1_Intron	NM_004525	NP_004516	P98164	LRP2_HUMAN	low density lipoprotein-related protein 2	570	LDL-receptor class B 4.|Extracellular (Potential).				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1)	29				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	CAGTAAACACGCTTCGATATC	0.408												
PPIG	9360	broad.mit.edu	37	2	170488344	170488344	+	Missense_Mutation	SNP	T	T	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr2:170488344T>A	uc002uez.2	+	11	1050	c.830T>A	c.(829-831)ATC>AAC	p.I277N	PPIG_uc010fpx.2_Missense_Mutation_p.I262N|PPIG_uc010fpy.2_Missense_Mutation_p.I270N|PPIG_uc002ufa.2_Missense_Mutation_p.I277N|PPIG_uc002ufb.2_Missense_Mutation_p.I277N|PPIG_uc002ufd.2_Missense_Mutation_p.I274N	NM_004792	NP_004783	Q13427	PPIG_HUMAN	peptidylprolyl isomerase G	277					protein folding|RNA splicing	nuclear matrix|nuclear speck	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity			ovary(2)|central_nervous_system(1)	3					L-Proline(DB00172)	CCAGAAGAGATCCCTCCTATA	0.328												
PHOSPHO2	493911	broad.mit.edu	37	2	170558005	170558005	+	Missense_Mutation	SNP	T	T	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr2:170558005T>A	uc002ufg.2	+	4	912	c.524T>A	c.(523-525)GTT>GAT	p.V175D	KLHL23_uc002ufh.1_Intron	NM_001008489	NP_001008489	Q8TCD6	PHOP2_HUMAN	phosphatase, orphan 2	175							metal ion binding|pyridoxal phosphatase activity			skin(1)	1						ACACAAATTGTTTATATTGGT	0.348												
HOXD12	3238	broad.mit.edu	37	2	176964613	176964613	+	Silent	SNP	C	C	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr2:176964613C>T	uc010zev.1	+	1	84	c.84C>T	c.(82-84)AAC>AAT	p.N28N	HOXD12_uc010zew.1_Silent_p.N28N	NM_021193	NP_067016	P35452	HXD12_HUMAN	homeobox D12	28						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)		ACTTCTCCAACCTGAGGCCGA	0.662												
HOXD10	3236	broad.mit.edu	37	2	176981694	176981694	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr2:176981694A>G	uc002ukj.2	+	1	203	c.133A>G	c.(133-135)ACC>GCC	p.T45A		NM_002148	NP_002139	P28358	HXD10_HUMAN	homeobox D10	45						nucleus	sequence-specific DNA binding			ovary(1)	1			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0226)|READ - Rectum adenocarcinoma(9;0.0556)		AGACATGGGGACCTATGGAAT	0.468												
TTN	7273	broad.mit.edu	37	2	179399998	179399998	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr2:179399998T>C	uc010zfg.1	-	307	93864	c.93640A>G	c.(93640-93642)ACC>GCC	p.T31214A	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.T24909A|TTN_uc010zfi.1_Missense_Mutation_p.T24842A|TTN_uc010zfj.1_Missense_Mutation_p.T24717A	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	32141							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)			TCTTCTTTGGTTATGGTTGGT	0.408												
TTN	7273	broad.mit.edu	37	2	179407619	179407619	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr2:179407619C>T	uc010zfg.1	-	297	89482	c.89258G>A	c.(89257-89259)GGC>GAC	p.G29753D	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.G23448D|TTN_uc010zfi.1_Missense_Mutation_p.G23381D|TTN_uc010zfj.1_Missense_Mutation_p.G23256D	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	30680							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)			TACTGGTCTGCCAGCTGGGAC	0.458												
TTN	7273	broad.mit.edu	37	2	179451992	179451992	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr2:179451992C>T	uc010zfg.1	-	256	56466	c.56242G>A	c.(56242-56244)GTT>ATT	p.V18748I	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.V12443I|TTN_uc010zfi.1_Missense_Mutation_p.V12376I|TTN_uc010zfj.1_Missense_Mutation_p.V12251I	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	19675							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)			TCTGGGGTAACGGTCGACCAT	0.488												
TTN	7273	broad.mit.edu	37	2	179471746	179471746	+	Splice_Site	SNP	A	A	G			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr2:179471746A>G	uc010zfg.1	-	227	46101	c.45877_splice	c.e227+1	p.G15293_splice	uc002ump.1_Intron|TTN_uc010zfh.1_Splice_Site_p.G8988_splice|TTN_uc010zfi.1_Splice_Site_p.G8921_splice|TTN_uc010zfj.1_Splice_Site_p.G8796_splice	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A								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)			CTTCTCTTTTACCTAGTGGAT	0.373												
TTN	7273	broad.mit.edu	37	2	179485917	179485917	+	Silent	SNP	T	T	C			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr2:179485917T>C	uc010zfg.1	-	195	38048	c.37824A>G	c.(37822-37824)CTA>CTG	p.L12608L	TTN_uc010zfh.1_Silent_p.L6303L|TTN_uc010zfi.1_Silent_p.L6236L|TTN_uc010zfj.1_Silent_p.L6111L	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	13535							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)			CTTTCACAACTAGGACCCTCT	0.433												
TTN	7273	broad.mit.edu	37	2	179486301	179486301	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr2:179486301T>C	uc010zfg.1	-	194	37770	c.37546A>G	c.(37546-37548)AAG>GAG	p.K12516E	TTN_uc010zfh.1_Missense_Mutation_p.K6211E|TTN_uc010zfi.1_Missense_Mutation_p.K6144E|TTN_uc010zfj.1_Missense_Mutation_p.K6019E	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	13443							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)			AGGATTCTCTTCCGTCCTTCA	0.468												
TTN	7273	broad.mit.edu	37	2	179599675	179599675	+	Silent	SNP	T	T	C			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr2:179599675T>C	uc010zfg.1	-	48	11468	c.11244A>G	c.(11242-11244)TTA>TTG	p.L3748L	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Silent_p.L409L	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	4675							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)			CTGGGAGCATTAAATAAGAGG	0.403												
TTN	7273	broad.mit.edu	37	2	179614709	179614709	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr2:179614709T>C	uc002unb.2	-	46	12642	c.12418A>G	c.(12418-12420)ACT>GCT	p.T4140A	TTN_uc010zfg.1_Intron|TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron	NM_133379	NP_596870	Q8WZ42	TITIN_HUMAN	titin isoform novex-3	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment							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)			GGTGATTGAGTAACTTGATCT	0.393												
NEUROD1	4760	broad.mit.edu	37	2	182543033	182543033	+	Silent	SNP	C	C	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr2:182543033C>T	uc002uof.2	-	2	791	c.555G>A	c.(553-555)GCG>GCA	p.A185A	CERKL_uc002uod.1_Intron	NM_002500	NP_002491	Q13562	NDF1_HUMAN	neurogenic differentiation 1	185				A -> G (in Ref. 2; BAA11558 and 5; BAA87605).	amacrine cell differentiation|cerebellum development|dentate gyrus development|embryonic organ morphogenesis|enteroendocrine cell differentiation|glucose homeostasis|inner ear development|insulin secretion|negative regulation of apoptosis|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of intestinal epithelial structure maintenance|response to glucose stimulus	cytoplasm|nucleus	chromatin binding|E-box binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding			ovary(1)	1			OV - Ovarian serous cystadenocarcinoma(117;0.088)			GCAGGCAGCCCGCAACCAGGT	0.607												
NCKAP1	10787	broad.mit.edu	37	2	183860523	183860523	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr2:183860523C>T	uc002upc.2	-	7	1049	c.647G>A	c.(646-648)CGA>CAA	p.R216Q	NCKAP1_uc002upb.2_Missense_Mutation_p.R222Q	NM_013436	NP_038464	Q9Y2A7	NCKP1_HUMAN	NCK-associated protein 1 isoform 1	216					apoptosis|central nervous system development	integral to membrane|lamellipodium membrane	protein binding			ovary(2)	2			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			AAGATTCCTTCGAGGATATAC	0.378												
TFPI	7035	broad.mit.edu	37	2	188332652	188332652	+	Missense_Mutation	SNP	G	G	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr2:188332652G>T	uc002upx.2	-	7	669	c.636C>A	c.(634-636)CAC>CAA	p.H212Q	TFPI_uc002upy.2_Missense_Mutation_p.H212Q|TFPI_uc002upz.2_Missense_Mutation_p.H208Q	NM_006287	NP_006278	P10646	TFPI1_HUMAN	tissue factor pathway inhibitor isoform a	212					blood coagulation, extrinsic pathway	extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			skin(1)	1			OV - Ovarian serous cystadenocarcinoma(117;0.0554)		Coagulation factor VIIa(DB00036)	ATGAGGGACCGTGAAATTCTA	0.388												
DNAH7	56171	broad.mit.edu	37	2	196746682	196746682	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr2:196746682A>G	uc002utj.3	-	36	5899	c.5798T>C	c.(5797-5799)TTG>TCG	p.L1933S		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	1933					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			skin(10)|ovary(2)	12						AGCTTCTTTCAATTTCTTTAT	0.338												
C2orf66	401027	broad.mit.edu	37	2	197672182	197672182	+	Silent	SNP	A	A	G			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr2:197672182A>G	uc002utv.2	-	2	1228	c.339T>C	c.(337-339)AAT>AAC	p.N113N		NM_213608	NP_998773	Q6UXQ4	CB066_HUMAN	hypothetical protein LOC401027 precursor	113						extracellular region					0						CTTTGAGATAATTGTGAAAGG	0.398												
CTLA4	1493	broad.mit.edu	37	2	204735621	204735621	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr2:204735621T>C	uc002vak.1	+	2	579	c.422T>C	c.(421-423)CTG>CCG	p.L141P	CTLA4_uc002val.1_Missense_Mutation_p.L141P|CTLA4_uc010fty.1_Intron|CTLA4_uc010ftz.1_Intron	NM_005214	NP_005205	P16410	CTLA4_HUMAN	cytotoxic T-lymphocyte-associated protein 4	141	Extracellular (Potential).				B cell receptor signaling pathway|immune response|negative regulation of B cell proliferation|negative regulation of regulatory T cell differentiation|positive regulation of apoptosis|response to DNA damage stimulus|T cell costimulation	clathrin-coated endocytic vesicle|external side of plasma membrane|Golgi apparatus|integral to plasma membrane|perinuclear region of cytoplasm					0					Abatacept(DB01281)	CCATACTACCTGGGCATAGGC	0.483												
PARD3B	117583	broad.mit.edu	37	2	206050586	206050586	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr2:206050586A>G	uc002var.1	+	14	2230	c.2023A>G	c.(2023-2025)AGC>GGC	p.S675G	PARD3B_uc010fub.1_Missense_Mutation_p.S675G|PARD3B_uc002vao.1_Missense_Mutation_p.S675G|PARD3B_uc002vap.1_Missense_Mutation_p.S613G|PARD3B_uc002vaq.1_Missense_Mutation_p.S675G	NM_152526	NP_689739	Q8TEW8	PAR3L_HUMAN	par-3 partitioning defective 3 homolog B isoform	675					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)		TTACAGCCACAGGTATTGATA	0.423												
INO80D	54891	broad.mit.edu	37	2	206874370	206874370	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr2:206874370G>A	uc002vaz.3	-	9	2096	c.1691C>T	c.(1690-1692)CCT>CTT	p.P564L		NM_017759	NP_060229	Q53TQ3	IN80D_HUMAN	INO80 complex subunit D	564					DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				ovary(1)	1						GGGGACTGCAGGTGGAATGGG	0.547												
ZDBF2	57683	broad.mit.edu	37	2	207174184	207174184	+	Silent	SNP	T	T	C			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr2:207174184T>C	uc002vbp.2	+	5	5182	c.4932T>C	c.(4930-4932)GAT>GAC	p.D1644D		NM_020923	NP_065974	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	1644							nucleic acid binding|zinc ion binding			ovary(3)	3						AAGGACCTGATGAGAAAATGG	0.368												
ADAM23	8745	broad.mit.edu	37	2	207437886	207437886	+	Silent	SNP	T	T	C			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr2:207437886T>C	uc002vbq.2	+	18	1927	c.1704T>C	c.(1702-1704)GAT>GAC	p.D568D	ADAM23_uc010ziv.1_RNA	NM_003812	NP_003803	O75077	ADA23_HUMAN	ADAM metallopeptidase domain 23 preproprotein	568	Disintegrin.|May bind the integrin receptor.|Extracellular (Potential).				cell adhesion|central nervous system development|proteolysis	extracellular region|integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			skin(2)|ovary(1)	3				LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205)		ACGAGTGTGATATTACTGAAT	0.323												
IKZF2	22807	broad.mit.edu	37	2	213872794	213872794	+	Nonsense_Mutation	SNP	G	G	A	rs146574423		TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr2:213872794G>A	uc002vem.2	-	8	1040	c.871C>T	c.(871-873)CGA>TGA	p.R291*	IKZF2_uc010fuu.2_Nonsense_Mutation_p.R146*|IKZF2_uc002vej.2_Nonsense_Mutation_p.R238*|IKZF2_uc002vek.2_RNA|IKZF2_uc010fuv.2_Nonsense_Mutation_p.R217*|IKZF2_uc002vel.2_Nonsense_Mutation_p.R212*|IKZF2_uc010fuw.2_Nonsense_Mutation_p.R65*|IKZF2_uc010fux.2_Nonsense_Mutation_p.R65*|IKZF2_uc010fuy.2_Nonsense_Mutation_p.R219*|IKZF2_uc002ven.2_Nonsense_Mutation_p.R265*|IKZF2_uc002vei.2_Nonsense_Mutation_p.R69*	NM_016260	NP_057344	Q9UKS7	IKZF2_HUMAN	helios isoform 1	291					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Esophageal squamous(248;0.0559)|Renal(323;0.218)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;2.97e-07)|all cancers(144;1.53e-05)|LUSC - Lung squamous cell carcinoma(224;0.00599)|Lung(261;0.00792)		TAGCTGAATCGCATGAGCTTT	0.383												
TNS1	7145	broad.mit.edu	37	2	218673324	218673324	+	Splice_Site	SNP	A	A	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr2:218673324A>T	uc002vgt.2	-	31	5428	c.5030_splice	c.e31+1	p.K1677_splice	TNS1_uc002vgr.2_Splice_Site_p.K1663_splice|TNS1_uc002vgs.2_Splice_Site_p.K1656_splice|TNS1_uc002vgq.2_Splice_Site_p.K177_splice	NM_022648	NP_072174	Q9HBL0	TENS1_HUMAN	tensin							cytoplasm|cytoskeleton|focal adhesion	actin binding			ovary(3)|breast(1)	4		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		CAAGAGACTTACTTTCTTTCC	0.363												
TNS1	7145	broad.mit.edu	37	2	218682650	218682650	+	Missense_Mutation	SNP	T	T	G			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr2:218682650T>G	uc002vgt.2	-	24	4491	c.4093A>C	c.(4093-4095)AGC>CGC	p.S1365R	TNS1_uc002vgr.2_Missense_Mutation_p.S1352R|TNS1_uc002vgs.2_Missense_Mutation_p.S1344R|TNS1_uc010zjv.1_Missense_Mutation_p.S1344R	NM_022648	NP_072174	Q9HBL0	TENS1_HUMAN	tensin	1365						cytoplasm|cytoskeleton|focal adhesion	actin binding			ovary(3)|breast(1)	4		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		GTGGCAGGGCTGCTCAGGCCA	0.662												
TNS1	7145	broad.mit.edu	37	2	218682831	218682831	+	Silent	SNP	G	G	A	rs149340421	byFrequency	TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr2:218682831G>A	uc002vgt.2	-	24	4310	c.3912C>T	c.(3910-3912)CTC>CTT	p.L1304L	TNS1_uc002vgr.2_Silent_p.L1291L|TNS1_uc002vgs.2_Silent_p.L1283L|TNS1_uc010zjv.1_Silent_p.L1283L	NM_022648	NP_072174	Q9HBL0	TENS1_HUMAN	tensin	1304						cytoplasm|cytoskeleton|focal adhesion	actin binding			ovary(3)|breast(1)	4		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		CAGACCCTCCGAGGTGACGGC	0.657												
RNF25	64320	broad.mit.edu	37	2	219528977	219528977	+	Silent	SNP	G	G	A	rs148126928		TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr2:219528977G>A	uc002vit.2	-	10	1171	c.1083C>T	c.(1081-1083)CAC>CAT	p.H361H	RNF25_uc010fvw.2_Silent_p.H249H	NM_022453	NP_071898	Q96BH1	RNF25_HUMAN	ring finger protein 25	361					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)		CTTTAGGGGCGTGGCACTCCC	0.627												
STK36	27148	broad.mit.edu	37	2	219559251	219559251	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr2:219559251G>A	uc002viu.2	+	21	2670	c.2404G>A	c.(2404-2406)GCA>ACA	p.A802T	STK36_uc002viv.2_Missense_Mutation_p.A802T|STK36_uc002viw.2_5'UTR|STK36_uc002vix.2_5'Flank	NM_015690	NP_056505	Q9NRP7	STK36_HUMAN	serine/threonine kinase 36	802					cilium assembly|positive regulation of hh target transcription factor activity|positive regulation of smoothened signaling pathway|post-embryonic development	aggresome|cytoplasm|focal adhesion|intermediate filament cytoskeleton|nucleus	ATP binding|protein serine/threonine kinase activity|transcription factor binding			ovary(4)|stomach(2)|lung(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)	11		Renal(207;0.0915)		Epithelial(149;9.65e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00984)		CCCACAGAGTGCAGCAGCCTG	0.512												
STK36	27148	broad.mit.edu	37	2	219561249	219561249	+	Splice_Site	SNP	G	G	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr2:219561249G>T	uc002viu.2	+	22	2778	c.2512_splice	c.e22-1	p.V838_splice	STK36_uc002viv.2_Intron|STK36_uc002viw.2_Splice_Site_p.V17_splice|STK36_uc002vix.2_5'Flank	NM_015690	NP_056505	Q9NRP7	STK36_HUMAN	serine/threonine kinase 36						cilium assembly|positive regulation of hh target transcription factor activity|positive regulation of smoothened signaling pathway|post-embryonic development	aggresome|cytoplasm|focal adhesion|intermediate filament cytoskeleton|nucleus	ATP binding|protein serine/threonine kinase activity|transcription factor binding			ovary(4)|stomach(2)|lung(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)	11		Renal(207;0.0915)		Epithelial(149;9.65e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00984)		CTCTCTGACAGGTTCGGTTGA	0.498												
CRYBA2	1412	broad.mit.edu	37	2	219856929	219856929	+	Silent	SNP	C	C	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr2:219856929C>T	uc002vjj.1	-	3	233	c.198G>A	c.(196-198)CAG>CAA	p.Q66Q	CRYBA2_uc002vjk.1_Silent_p.Q66Q	NM_057094	NP_476435	P53672	CRBA2_HUMAN	crystallin, beta A2	66	Beta/gamma crystallin 'Greek key' 2.						structural constituent of eye lens				0		Renal(207;0.0474)		Epithelial(149;9.77e-07)|all cancers(144;0.000167)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GAATGAACTGCTGTCCCTGGA	0.612												
MOGAT1	116255	broad.mit.edu	37	2	223553067	223553067	+	Silent	SNP	G	G	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr2:223553067G>A	uc010fws.1	+	2	147	c.99G>A	c.(97-99)CCG>CCA	p.P33P	MOGAT1_uc010fwt.1_5'UTR	NM_058165	NP_477513	Q96PD6	MOGT1_HUMAN	monoacylglycerol O-acyltransferase 1	33	Helical; (Potential).				glycerol metabolic process	endoplasmic reticulum membrane|integral to membrane	2-acylglycerol O-acyltransferase activity			breast(1)	1		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)		TTACAGGGCCGATGTCCATTG	0.423												
SERPINE2	5270	broad.mit.edu	37	2	224842297	224842297	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr2:224842297T>C	uc002vnu.2	-	8	1366	c.1123A>G	c.(1123-1125)AGA>GGA	p.R375G	SERPINE2_uc002vnt.2_Missense_Mutation_p.R374G|SERPINE2_uc010zlr.1_Missense_Mutation_p.R386G|SERPINE2_uc002vnv.2_Missense_Mutation_p.R374G	NM_006216	NP_006207	P07093	GDN_HUMAN	plasminogen activator inhibitor type 1, member 2	375					negative regulation of blood coagulation|negative regulation of plasminogen activation|negative regulation of platelet aggregation|positive regulation of astrocyte differentiation|regulation of cell migration	cytosol|extracellular matrix|extracellular space|extrinsic to external side of plasma membrane|neuromuscular junction|platelet alpha granule	heparin binding|receptor binding|serine-type endopeptidase inhibitor activity			breast(2)|ovary(1)|central_nervous_system(1)	4		Renal(207;0.025)|all_lung(227;0.0586)|Lung NSC(271;0.0682)|all_hematologic(139;0.0797)		Epithelial(121;5.68e-10)|all cancers(144;1.9e-07)|Lung(261;0.0088)|LUSC - Lung squamous cell carcinoma(224;0.00902)		AGAAAAGGTCTGTCTACTATA	0.413												
CUL3	8452	broad.mit.edu	37	2	225360635	225360635	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr2:225360635T>C	uc002vny.2	-	13	2140	c.1756A>G	c.(1756-1758)AAT>GAT	p.N586D	CUL3_uc010zls.1_Missense_Mutation_p.N520D|CUL3_uc010fwy.1_Missense_Mutation_p.N592D|CUL3_uc002vnz.1_Missense_Mutation_p.N33D	NM_003590	NP_003581	Q13618	CUL3_HUMAN	cullin 3	586					cell cycle arrest|cell migration|cyclin catabolic process|cytokinesis|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|mitotic anaphase|negative regulation of Rho protein signal transduction|positive regulation of cell proliferation|protein ubiquitination|stress fiber assembly	Cul3-RING ubiquitin ligase complex|Golgi apparatus|nucleus|polar microtubule	ubiquitin protein ligase binding			upper_aerodigestive_tract(1)|ovary(1)|liver(1)|kidney(1)	4		all_lung(227;0.00877)|Lung NSC(271;0.011)|Renal(207;0.0112)|all_hematologic(139;0.138)		Epithelial(121;1.58e-11)|all cancers(144;1.43e-08)|Lung(261;0.00863)|LUSC - Lung squamous cell carcinoma(224;0.00902)		TTCCGTGTATTAGAGCCAGTT	0.348												
TRIP12	9320	broad.mit.edu	37	2	230723776	230723776	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr2:230723776A>G	uc002vpw.1	-	3	722	c.613T>C	c.(613-615)TCG>CCG	p.S205P	TRIP12_uc002vpx.1_Missense_Mutation_p.S247P|TRIP12_uc002vpy.1_Intron|TRIP12_uc010zlz.1_RNA|TRIP12_uc010fxh.1_Missense_Mutation_p.S205P	NM_004238	NP_004229	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	205					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)		GCAGAAGACGAGGAGGAAGTA	0.537												
SP140	11262	broad.mit.edu	37	2	231106186	231106186	+	Silent	SNP	A	A	G			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr2:231106186A>G	uc002vql.2	+	4	589	c.474A>G	c.(472-474)CTA>CTG	p.L158L	SP140_uc010zma.1_RNA|SP140_uc002vqk.2_Silent_p.L158L|SP140_uc002vqn.2_Silent_p.L158L|SP140_uc002vqm.2_Silent_p.L158L|SP140_uc010fxl.2_Silent_p.L158L	NM_007237	NP_009168	Q13342	LY10_HUMAN	SP140 nuclear body protein isoform 1	158					defense response	cytoplasm|nuclear envelope|nucleolus|nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		CCAGATTACTACCATATGGTA	0.358												
C2orf57	165100	broad.mit.edu	37	2	232458157	232458157	+	Silent	SNP	G	G	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr2:232458157G>A	uc002vrz.2	+	1	546	c.495G>A	c.(493-495)CAG>CAA	p.Q165Q		NM_152614	NP_689827	Q53QW1	CB057_HUMAN	hypothetical protein LOC165100	165										ovary(1)	1		Renal(207;0.025)|all_hematologic(139;0.0735)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;1.33e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.014)		TGGAGGCTCAGCCCGTCGAGA	0.602												
CHRND	1144	broad.mit.edu	37	2	233392150	233392150	+	Nonsense_Mutation	SNP	G	G	T	rs121909504		TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr2:233392150G>T	uc002vsw.2	+	3	242	c.238G>T	c.(238-240)GAG>TAG	p.E80*	CHRND_uc010zmg.1_Intron|CHRND_uc010fyc.2_5'UTR|CHRND_uc010zmh.1_5'UTR	NM_000751	NP_000742	Q07001	ACHD_HUMAN	nicotinic acetylcholine receptor delta	80	Extracellular (Potential).		E -> K (in FCCMS; reduced adult and fetal AChR expression and a reduced probability of both adult and fetal AChR being in the open state).		muscle contraction|musculoskeletal movement|neuromuscular process|skeletal muscle tissue growth|synaptic transmission	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	nicotinic acetylcholine-activated cation-selective channel activity|receptor activity			ovary(1)|breast(1)|skin(1)	3		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;1.89e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00078)|Lung(119;0.00579)|LUSC - Lung squamous cell carcinoma(224;0.00754)		TGTGTGGATAGAGCACGTAAG	0.294												
TRPM8	79054	broad.mit.edu	37	2	234835246	234835246	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr2:234835246C>T	uc002vvh.2	+	2	104	c.64C>T	c.(64-66)CGG>TGG	p.R22W	TRPM8_uc010fyj.2_5'UTR	NM_024080	NP_076985	Q7Z2W7	TRPM8_HUMAN	transient receptor potential cation channel,	22	Cytoplasmic (Potential).					integral to membrane				skin(4)	4		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	Menthol(DB00825)	GGACAGCACCCGGACCCTGTA	0.512												
AGAP1	116987	broad.mit.edu	37	2	237029052	237029052	+	Silent	SNP	C	C	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr2:237029052C>T	uc002vvs.2	+	17	2926	c.2331C>T	c.(2329-2331)TGC>TGT	p.C777C	AGAP1_uc002vvt.2_Silent_p.C724C	NM_001037131	NP_001032208	Q9UPQ3	AGAP1_HUMAN	centaurin, gamma 2 isoform 1	777	ANK 1.				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						ATCTGGCCTGCCGCAAGGGGA	0.682												
HDAC4	9759	broad.mit.edu	37	2	240029856	240029856	+	Missense_Mutation	SNP	G	G	C			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr2:240029856G>C	uc002vyk.3	-	15	2779	c.1987C>G	c.(1987-1989)CTG>GTG	p.L663V	HDAC4_uc010fyz.1_Missense_Mutation_p.L658V|HDAC4_uc010zoa.1_Missense_Mutation_p.L663V|HDAC4_uc010fza.2_Missense_Mutation_p.L668V|HDAC4_uc010fyy.2_Missense_Mutation_p.L620V|HDAC4_uc010znz.1_Missense_Mutation_p.L546V	NM_006037	NP_006028	P56524	HDAC4_HUMAN	histone deacetylase 4	663	Histone deacetylase.				B cell differentiation|cardiac muscle hypertrophy in response to stress|chromatin remodeling|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of glycolysis|negative regulation of myotube differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development|peptidyl-lysine deacetylation|positive regulation of cell proliferation|positive regulation of protein sumoylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|response to denervation involved in regulation of muscle adaptation|response to interleukin-1|transcription, DNA-dependent	histone deacetylase complex|transcriptional repressor complex	activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|potassium ion binding|repressing transcription factor binding|zinc ion binding			breast(3)|skin(2)|ovary(1)	6		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)		Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04)		TGGTGCTTCAGCATCAGCGTG	0.706												
HDAC4	9759	broad.mit.edu	37	2	240048352	240048352	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr2:240048352C>T	uc002vyk.3	-	12	2110	c.1318G>A	c.(1318-1320)GCA>ACA	p.A440T	HDAC4_uc010fyz.1_Missense_Mutation_p.A435T|HDAC4_uc010zoa.1_Missense_Mutation_p.A440T|HDAC4_uc010fza.2_Missense_Mutation_p.A445T|HDAC4_uc010fyy.2_Missense_Mutation_p.A397T|HDAC4_uc010znz.1_Missense_Mutation_p.A323T|HDAC4_uc010fzb.1_RNA	NM_006037	NP_006028	P56524	HDAC4_HUMAN	histone deacetylase 4	440					B cell differentiation|cardiac muscle hypertrophy in response to stress|chromatin remodeling|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of glycolysis|negative regulation of myotube differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development|peptidyl-lysine deacetylation|positive regulation of cell proliferation|positive regulation of protein sumoylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|response to denervation involved in regulation of muscle adaptation|response to interleukin-1|transcription, DNA-dependent	histone deacetylase complex|transcriptional repressor complex	activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|potassium ion binding|repressing transcription factor binding|zinc ion binding			breast(3)|skin(2)|ovary(1)	6		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)		Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04)		AAGGACTGTGCGTGGAGGGGC	0.622												
NDUFA10	4705	broad.mit.edu	37	2	240954271	240954271	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr2:240954271T>C	uc002vyn.2	-	5	634	c.554A>G	c.(553-555)GAC>GGC	p.D185G	NDUFA10_uc010fzc.1_Missense_Mutation_p.D225G|NDUFA10_uc002vyo.1_Missense_Mutation_p.D185G	NM_004544	NP_004535	O95299	NDUAA_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha	185					mitochondrial electron transport, NADH to ubiquinone|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|transport	mitochondrial matrix|mitochondrial respiratory chain complex I	ATP binding|NADH dehydrogenase (ubiquinone) activity|phosphotransferase activity, alcohol group as acceptor			central_nervous_system(1)	1		all_epithelial(40;4.26e-15)|Breast(86;4.4e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0396)|Lung NSC(271;0.128)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(121;7.82e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.5e-13)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;2.39e-05)|Lung(119;0.00519)|LUSC - Lung squamous cell carcinoma(224;0.0202)	NADH(DB00157)	GTTGTAGTGGTCCACACCTGG	0.547												
RNPEPL1	57140	broad.mit.edu	37	2	241516004	241516004	+	Silent	SNP	G	G	A	rs139086666		TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr2:241516004G>A	uc002vzi.2	+	9	1463	c.870G>A	c.(868-870)CCG>CCA	p.P290P	RNPEPL1_uc010fzf.2_Silent_p.P196P|RNPEPL1_uc002vzj.2_5'UTR	NM_018226	NP_060696	Q9HAU8	RNPL1_HUMAN	arginyl aminopeptidase (aminopeptidase B)-like	290					leukotriene biosynthetic process|proteolysis		aminopeptidase activity|metallopeptidase activity|zinc ion binding			large_intestine(1)|skin(1)	2		all_epithelial(40;1.13e-11)|Breast(86;0.000169)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.204)|Melanoma(123;0.238)		Epithelial(32;3.05e-31)|all cancers(36;8.2e-29)|OV - Ovarian serous cystadenocarcinoma(60;8.55e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.12e-06)|Lung(119;0.00168)|Colorectal(34;0.005)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.0322)		TGGCTGAGCCGGACCTGTCTC	0.682												
KIF1A	547	broad.mit.edu	37	2	241683449	241683449	+	Missense_Mutation	SNP	A	A	G	rs35698242		TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr2:241683449A>G	uc002vzy.2	-	31	3337	c.3191T>C	c.(3190-3192)ATT>ACT	p.I1064T	KIF1A_uc010fzk.2_Missense_Mutation_p.I1165T|KIF1A_uc002vzz.1_Missense_Mutation_p.I1165T	NM_004321	NP_004312	Q12756	KIF1A_HUMAN	axonal transport of synaptic vesicles	1064					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)		GATGTACTCAATGAAGGACTT	0.597												
HDLBP	3069	broad.mit.edu	37	2	242176107	242176107	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr2:242176107C>T	uc002waz.2	-	21	3055	c.2827G>A	c.(2827-2829)GGC>AGC	p.G943S	HDLBP_uc002wba.2_Missense_Mutation_p.G943S|HDLBP_uc002wbb.2_Missense_Mutation_p.G895S	NM_203346	NP_976221	Q00341	VIGLN_HUMAN	high density lipoprotein binding protein	943	KH 11.				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)		CTTGGAGAGCCGGGGTCACAA	0.547												
C2orf85	285093	broad.mit.edu	37	2	242815392	242815392	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr2:242815392G>A	uc010fzu.1	+	2	1708	c.1685G>A	c.(1684-1686)CGG>CAG	p.R562Q		NM_173821	NP_776182	Q14D33	CB085_HUMAN	hypothetical protein LOC285093	562						integral to membrane				ovary(1)	1						TGCATGTGTCGGCTGAACCCC	0.662												
TGM3	7053	broad.mit.edu	37	20	2312896	2312896	+	Missense_Mutation	SNP	G	G	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr20:2312896G>T	uc002wfx.3	+	10	1679	c.1582G>T	c.(1582-1584)GGC>TGC	p.G528C		NM_003245	NP_003236	Q08188	TGM3_HUMAN	transglutaminase 3 precursor	528					cell envelope organization|hair follicle morphogenesis|keratinization|peptide cross-linking|protein tetramerization	cytoplasm|extrinsic to internal side of plasma membrane	acyltransferase activity|calcium ion binding|GDP binding|GTP binding|GTPase activity|magnesium ion binding|protein-glutamine gamma-glutamyltransferase activity			large_intestine(4)|ovary(3)|breast(1)|skin(1)	9					L-Glutamine(DB00130)	CATCTACAACGGCACGCTTGT	0.522												
SIGLEC1	6614	broad.mit.edu	37	20	3672650	3672650	+	Silent	SNP	C	C	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr20:3672650C>T	uc002wja.2	-	16	4230	c.4230G>A	c.(4228-4230)CGG>CGA	p.R1410R	SIGLEC1_uc002wjb.1_Silent_p.R49R|SIGLEC1_uc002wiz.3_Silent_p.R1410R	NM_023068	NP_075556	Q9BZZ2	SN_HUMAN	sialoadhesin precursor	1410	Ig-like C2-type 14.|Extracellular (Potential).				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding			pancreas(4)|ovary(2)|skin(2)|breast(1)|central_nervous_system(1)	10						GCACCTGCAGCCGTAGGGCGT	0.597												
FLRT3	23767	broad.mit.edu	37	20	14306292	14306292	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr20:14306292T>C	uc002wov.1	-	3	2328	c.1861A>G	c.(1861-1863)AAT>GAT	p.N621D	MACROD2_uc002wot.2_Intron|MACROD2_uc002wou.2_Intron|FLRT3_uc002wow.1_Missense_Mutation_p.N621D	NM_198391	NP_938205	Q9NZU0	FLRT3_HUMAN	fibronectin leucine rich transmembrane protein 3	621	Cytoplasmic (Potential).				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			kidney(1)	1		Colorectal(1;0.0464)	COAD - Colon adenocarcinoma(2;0.129)	Colorectal(1;0.0393)		TTGTACAGATTCATTCCATTA	0.408												
KIF16B	55614	broad.mit.edu	37	20	16359766	16359766	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr20:16359766C>T	uc002wpg.1	-	19	3039	c.2881G>A	c.(2881-2883)GCC>ACC	p.A961T	KIF16B_uc002wpe.1_Missense_Mutation_p.A343T|KIF16B_uc002wpf.1_Missense_Mutation_p.A343T|KIF16B_uc010gch.1_Missense_Mutation_p.A961T|KIF16B_uc010gci.1_Missense_Mutation_p.A961T|KIF16B_uc010gcj.1_Missense_Mutation_p.A972T	NM_024704	NP_078980	Q96L93	KI16B_HUMAN	kinesin-like motor protein C20orf23	961	Glu-rich.|Potential.				cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity			skin(2)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|ovary(1)|kidney(1)	8						TTTGCATTGGCCTGGTACTGT	0.418												
CSRP2BP	57325	broad.mit.edu	37	20	18123412	18123412	+	Silent	SNP	G	G	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr20:18123412G>A	uc002wqj.2	+	2	730	c.108G>A	c.(106-108)ACG>ACA	p.T36T	CSRP2BP_uc002wqk.2_5'Flank	NM_020536	NP_065397	Q9H8E8	CSR2B_HUMAN	CSRP2 binding protein	36					histone H3 acetylation	Ada2/Gcn5/Ada3 transcription activator complex|cytoplasm	LIM domain binding|N-acetyltransferase activity			lung(3)|ovary(2)|skin(1)	6						AGGGAGAGACGCTCCTGATCG	0.542												
C20orf26	26074	broad.mit.edu	37	20	20180465	20180465	+	Silent	SNP	C	C	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr20:20180465C>A	uc002wru.2	+	17	1927	c.1851C>A	c.(1849-1851)CCC>CCA	p.P617P	C20orf26_uc010zse.1_Silent_p.P597P	NM_015585	NP_056400	Q8NHU2	CT026_HUMAN	hypothetical protein LOC26074	617										ovary(3)|pancreas(1)	4				READ - Rectum adenocarcinoma(2;0.171)		ACTTGGTTCCCGTGCGACCAC	0.532												
PAX1	5075	broad.mit.edu	37	20	21687475	21687475	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr20:21687475C>T	uc002wsj.2	+	2	740	c.686C>T	c.(685-687)GCG>GTG	p.A229V	PAX1_uc010zsl.1_Missense_Mutation_p.A229V|PAX1_uc010zsm.1_Missense_Mutation_p.A205V	NM_006192	NP_006183	P15863	PAX1_HUMAN	paired box 1	229					regulation of transcription, DNA-dependent|skeletal system development|transcription from RNA polymerase II promoter	nucleus	DNA binding			upper_aerodigestive_tract(1)|kidney(1)	2						GGCAGCCTGGCGCAGCCCGGA	0.647												
NINL	22981	broad.mit.edu	37	20	25456684	25456684	+	Silent	SNP	G	G	A	rs144098143	byFrequency	TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr20:25456684G>A	uc002wux.1	-	17	3317	c.3243C>T	c.(3241-3243)AAC>AAT	p.N1081N	NINL_uc010gdn.1_Intron	NM_025176	NP_079452	Q9Y2I6	NINL_HUMAN	ninein-like	1081	Potential.				G2/M transition of mitotic cell cycle	cytosol|microtubule|microtubule organizing center	calcium ion binding			ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5						CAAACCTGTCGTTCTCTCTCA	0.443												
DNMT3B	1789	broad.mit.edu	37	20	31387087	31387087	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr20:31387087G>A	uc002wyc.2	+	16	2033	c.1712G>A	c.(1711-1713)CGA>CAA	p.R571Q	DNMT3B_uc010zty.1_RNA|DNMT3B_uc002wyd.2_Missense_Mutation_p.R551Q|DNMT3B_uc002wye.2_Missense_Mutation_p.R551Q|DNMT3B_uc010gee.2_RNA|DNMT3B_uc010gef.2_RNA|DNMT3B_uc010ztz.1_Missense_Mutation_p.R509Q|DNMT3B_uc010zua.1_Missense_Mutation_p.R475Q|DNMT3B_uc002wyf.2_Missense_Mutation_p.R563Q|DNMT3B_uc002wyg.2_Missense_Mutation_p.R270Q|DNMT3B_uc010geg.2_5'Flank|DNMT3B_uc010geh.2_5'Flank	NM_006892	NP_008823	Q9UBC3	DNM3B_HUMAN	DNA cytosine-5 methyltransferase 3 beta isoform	571					negative regulation of histone H3-K9 methylation|positive regulation of gene expression|positive regulation of histone H3-K4 methylation		metal ion binding|protein binding|transcription corepressor activity			lung(3)|ovary(2)	5						CCCGCAGCCCGAAGGCGGCCC	0.587												
MAPRE1	22919	broad.mit.edu	37	20	31427577	31427577	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr20:31427577C>T	uc002wyh.2	+	5	651	c.512C>T	c.(511-513)GCG>GTG	p.A171V		NM_012325	NP_036457	Q15691	MARE1_HUMAN	microtubule-associated protein, RP/EB family,	171	Interaction with MTUS2/TIP150.				cell division|cell proliferation|G2/M transition of mitotic cell cycle|mitotic prometaphase|negative regulation of microtubule polymerization|protein localization to microtubule	centrosome|cortical microtubule cytoskeleton|cytosol	microtubule plus-end binding|protein C-terminus binding				0						AGAACCGCTGCGGCTCCTAAG	0.552												
AHCY	191	broad.mit.edu	37	20	32878616	32878616	+	Silent	SNP	G	G	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr20:32878616G>A	uc002xai.2	-	6	826	c.687C>T	c.(685-687)GCC>GCT	p.A229A	AHCY_uc002xaj.2_Silent_p.A201A	NM_000687	NP_000678	P23526	SAHH_HUMAN	adenosylhomocysteinase isoform 1	229					methylation|xenobiotic metabolic process	cytosol|melanosome	adenosylhomocysteinase activity|protein binding				0						GCAGGGCCTGGGCACAGCCCT	0.612												
GGT7	2686	broad.mit.edu	37	20	33451198	33451198	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr20:33451198G>A	uc002xay.2	-	2	366	c.323C>T	c.(322-324)ACG>ATG	p.T108M	GGT7_uc002xaz.1_Missense_Mutation_p.T125M|GGT7_uc002xba.1_Missense_Mutation_p.T108M	NM_178026	NP_821158	Q9UJ14	GGT7_HUMAN	gamma-glutamyltransferase 7	108	Helical; Signal-anchor for type II membrane protein; (Potential).				glutathione biosynthetic process	integral to membrane	acyltransferase activity|gamma-glutamyltransferase activity			ovary(1)	1						GACGATGACCGTGAGCCCATC	0.667												
GSS	2937	broad.mit.edu	37	20	33530761	33530761	+	Silent	SNP	C	C	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr20:33530761C>T	uc002xbg.2	-	4	404	c.324G>A	c.(322-324)AAG>AAA	p.K108K	GSS_uc010zun.1_5'UTR|GSS_uc010zuo.1_Intron|GSS_uc010zup.1_Silent_p.K39K|GSS_uc002xbh.2_RNA|GSS_uc010gez.1_5'UTR	NM_000178	NP_000169	P48637	GSHB_HUMAN	glutathione synthetase	108					nervous system development|response to oxidative stress|xenobiotic metabolic process	cytosol	ATP binding|glutathione binding|glutathione synthase activity|magnesium ion binding|protein homodimerization activity			ovary(3)	3			BRCA - Breast invasive adenocarcinoma(18;0.035)		Glutathione(DB00143)|Glycine(DB00145)|L-Cysteine(DB00151)	TTAGGACTTGCTTGTGGATGT	0.453												
SLC32A1	140679	broad.mit.edu	37	20	37356949	37356949	+	Silent	SNP	C	C	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr20:37356949C>T	uc002xjc.2	+	2	1508	c.1245C>T	c.(1243-1245)CGC>CGT	p.R415R		NM_080552	NP_542119	Q9H598	VIAAT_HUMAN	solute carrier family 32, member 1	415	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)	AAGGCAGCCGCGCCTTTTTCC	0.622												
DHX35	60625	broad.mit.edu	37	20	37652340	37652340	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr20:37652340T>C	uc002xjh.2	+	17	1612	c.1601T>C	c.(1600-1602)GTG>GCG	p.V534A	DHX35_uc010zwa.1_Missense_Mutation_p.V379A|DHX35_uc010zwb.1_Missense_Mutation_p.V379A|DHX35_uc010zwc.1_Missense_Mutation_p.V503A	NM_021931	NP_068750	Q9H5Z1	DHX35_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 35	534						catalytic step 2 spliceosome	ATP binding|ATP-dependent helicase activity|nucleic acid binding			lung(1)|kidney(1)|skin(1)	3		Myeloproliferative disorder(115;0.00878)				CAGATTCGAGTGCACCGTAAA	0.313												
PTPRT	11122	broad.mit.edu	37	20	40911166	40911166	+	Splice_Site	SNP	C	C	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr20:40911166C>T	uc002xkg.2	-	13	2324	c.2140_splice	c.e13-1	p.E714_splice	PTPRT_uc010ggj.2_Splice_Site_p.E714_splice	NM_007050	NP_008981	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T						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)				TTTTGGTCTCCTGTGAACAAC	0.323												
IFT52	51098	broad.mit.edu	37	20	42252676	42252676	+	Missense_Mutation	SNP	G	G	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr20:42252676G>T	uc002xkw.2	+	10	1036	c.914G>T	c.(913-915)AGC>ATC	p.S305I	IFT52_uc002xky.2_Missense_Mutation_p.S305I|IFT52_uc002xkx.2_RNA|IFT52_uc010ggn.2_Missense_Mutation_p.S281I|IFT52_uc002xkz.2_Missense_Mutation_p.S305I	NM_016004	NP_057088	Q9Y366	IFT52_HUMAN	intraflagellar transport 52 homolog	305						intraflagellar transport particle B|microtubule-based flagellum	protein C-terminus binding			ovary(2)	2		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			TCCTTCCACAGCGTCATCGAG	0.532												
SERINC3	10955	broad.mit.edu	37	20	43141554	43141554	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr20:43141554A>G	uc002xme.2	-	3	417	c.283T>C	c.(283-285)TAT>CAT	p.Y95H	SERINC3_uc002xmf.1_Missense_Mutation_p.Y95H|SERINC3_uc010ggs.1_Missense_Mutation_p.Y88H|SERINC3_uc010zwp.1_Missense_Mutation_p.Y40H	NM_198941	NP_945179	Q13530	SERC3_HUMAN	tumor differentially expressed protein 1	95	Extracellular (Potential).					integral to membrane|plasma membrane	protein binding			skin(3)	3		Myeloproliferative disorder(115;0.0122)	Colorectal(3;0.000291)|COAD - Colon adenocarcinoma(18;0.00189)			ACAGCTTTATAACCAACCAGC	0.388												
KCNS1	3787	broad.mit.edu	37	20	43727239	43727239	+	Silent	SNP	G	G	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr20:43727239G>A	uc002xnc.2	-	4	571	c.174C>T	c.(172-174)GGC>GGT	p.G58G	KCNS1_uc002xnd.2_Silent_p.G58G	NM_002251	NP_002242	Q96KK3	KCNS1_HUMAN	potassium voltage-gated channel	58	Cytoplasmic (Potential).					voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium channel regulator activity|protein binding				0		Myeloproliferative disorder(115;0.0122)				GCCGCCGCACGCCACCCACGT	0.761												
ZSWIM3	140831	broad.mit.edu	37	20	44505669	44505669	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr20:44505669T>C	uc002xqd.2	+	2	675	c.472T>C	c.(472-474)TCC>CCC	p.S158P	ZSWIM3_uc010zxg.1_Missense_Mutation_p.S152P	NM_080752	NP_542790	Q96MP5	ZSWM3_HUMAN	zinc finger, SWIM domain containing 3	158							zinc ion binding			ovary(2)	2		Myeloproliferative disorder(115;0.0122)				GGTACAAGTGTCCTCAAAGCC	0.498												
CD40	958	broad.mit.edu	37	20	44747031	44747031	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr20:44747031G>A	uc002xrg.1	+	1	126	c.49G>A	c.(49-51)GCT>ACT	p.A17T	CD40_uc002xrf.1_Missense_Mutation_p.A17T|CD40_uc002xrh.1_Missense_Mutation_p.A17T|CD40_uc002xri.1_Missense_Mutation_p.A17T|CD40_uc002xrj.1_RNA|CD40_uc002xrk.1_RNA	NM_001250	NP_001241	P25942	TNR5_HUMAN	CD40 antigen isoform 1 precursor	17					B cell proliferation|cellular response to mechanical stimulus|inflammatory response|platelet activation|positive regulation of endothelial cell apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein complex assembly	CD40 receptor complex|extracellular region	enzyme binding|receptor activity			lung(1)|skin(1)	2		Myeloproliferative disorder(115;0.0122)			Simvastatin(DB00641)	CTTGCTGACCGCTGTGAGTTG	0.612									Immune_Deficiency_with_Hyper-IgM			
CDH22	64405	broad.mit.edu	37	20	44839105	44839105	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr20:44839105C>T	uc002xrm.2	-	6	1528	c.1127G>A	c.(1126-1128)CGC>CAC	p.R376H	CDH22_uc010ghk.1_Missense_Mutation_p.R376H|CDH22_uc002xrn.1_Missense_Mutation_p.R127H	NM_021248	NP_067071	Q9UJ99	CAD22_HUMAN	cadherin 22 precursor	376	Extracellular (Potential).|Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|skin(1)	5		Myeloproliferative disorder(115;0.0122)				CGCCTGGTCGCGGAACGTGCC	0.711												
ZNF334	55713	broad.mit.edu	37	20	45130215	45130215	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr20:45130215A>G	uc002xsc.2	-	5	1947	c.1763T>C	c.(1762-1764)GTT>GCT	p.V588A	ZNF334_uc002xsa.2_Missense_Mutation_p.V611A|ZNF334_uc002xsb.2_Missense_Mutation_p.V550A|ZNF334_uc002xsd.2_Missense_Mutation_p.V550A|ZNF334_uc010ghl.2_Missense_Mutation_p.V587A	NM_018102	NP_060572	Q9HCZ1	ZN334_HUMAN	zinc finger protein 334 isoform a	588	C2H2-type 11.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|pancreas(1)	2		Myeloproliferative disorder(115;0.0122)				CTGATGTTCAACAAAGGAGAA	0.443												
NCOA3	8202	broad.mit.edu	37	20	46265284	46265284	+	Silent	SNP	C	C	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr20:46265284C>T	uc002xtk.2	+	12	2359	c.2154C>T	c.(2152-2154)GAC>GAT	p.D718D	NCOA3_uc010ght.1_Silent_p.D728D|NCOA3_uc002xtl.2_Silent_p.D718D|NCOA3_uc002xtm.2_Silent_p.D718D|NCOA3_uc002xtn.2_Silent_p.D718D|NCOA3_uc010zyc.1_Silent_p.D513D	NM_181659	NP_858045	Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3 isoform a	718					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						CTTGTGGGGACGGAAATGTTG	0.473												
SPATA2	9825	broad.mit.edu	37	20	48522877	48522877	+	Missense_Mutation	SNP	G	G	A	rs140549434		TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr20:48522877G>A	uc010gie.2	-	3	1192	c.842C>T	c.(841-843)ACG>ATG	p.T281M	SPATA2_uc002xuw.2_Missense_Mutation_p.T281M|SPATA2_uc010zyn.1_Missense_Mutation_p.T144M	NM_001135773	NP_001129245	Q9UM82	SPAT2_HUMAN	spermatogenesis associated 2	281					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm|nucleus				central_nervous_system(1)|skin(1)	2	Hepatocellular(150;0.133)		BRCA - Breast invasive adenocarcinoma(9;4.03e-06)			CCCCACATCCGTTGCCACAGG	0.627												
ADNP	23394	broad.mit.edu	37	20	49510674	49510674	+	Missense_Mutation	SNP	C	C	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr20:49510674C>A	uc002xvt.1	-	5	922	c.577G>T	c.(577-579)GCA>TCA	p.A193S	ADNP_uc002xvu.1_Missense_Mutation_p.A193S	NM_015339	NP_056154	Q9H2P0	ADNP_HUMAN	activity-dependent neuroprotector	193						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)	2						TAAGGTGCTGCCACATGCTGA	0.443												
ADNP	23394	broad.mit.edu	37	20	49510754	49510754	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr20:49510754T>C	uc002xvt.1	-	5	842	c.497A>G	c.(496-498)TAC>TGC	p.Y166C	ADNP_uc002xvu.1_Missense_Mutation_p.Y166C	NM_015339	NP_056154	Q9H2P0	ADNP_HUMAN	activity-dependent neuroprotector	166	C2H2-type 3.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)	2						CTTCTTACAGTAATAAACAGC	0.423												
ZFP64	55734	broad.mit.edu	37	20	50705027	50705027	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr20:50705027G>A	uc002xwk.2	-	8	1481	c.1132C>T	c.(1132-1134)CGG>TGG	p.R378W	ZFP64_uc002xwj.2_Missense_Mutation_p.R159W	NM_199427	NP_955459	Q9NPA5	ZF64A_HUMAN	zinc finger protein 64 isoform d	335	C2H2-type 6.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			upper_aerodigestive_tract(1)|ovary(1)	2						GAGTGGATCCGCAGGTGCTTC	0.602												
ZFP64	55734	broad.mit.edu	37	20	50769628	50769628	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr20:50769628T>C	uc002xwl.2	-	6	1452	c.1103A>G	c.(1102-1104)GAC>GGC	p.D368G	ZFP64_uc002xwk.2_Intron|ZFP64_uc002xwm.2_Missense_Mutation_p.D366G|ZFP64_uc002xwn.2_Missense_Mutation_p.D314G	NM_018197	NP_060667	Q9NPA5	ZF64A_HUMAN	zinc finger protein 64 isoform a	368					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			upper_aerodigestive_tract(1)|ovary(1)	2						GAAAGGGCGGTCGGTGCAGTG	0.577												
TSHZ2	128553	broad.mit.edu	37	20	51872037	51872037	+	Silent	SNP	C	C	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr20:51872037C>T	uc002xwo.2	+	2	2996	c.2040C>T	c.(2038-2040)TGC>TGT	p.C680C		NM_173485	NP_775756	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	680					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(5)|haematopoietic_and_lymphoid_tissue(1)	6			STAD - Stomach adenocarcinoma(23;0.1)			GCAATGGGTGCGCCCTCGCCA	0.632												
BCAS1	8537	broad.mit.edu	37	20	52645436	52645436	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr20:52645436G>A	uc002xws.2	-	4	556	c.218C>T	c.(217-219)GCG>GTG	p.A73V	BCAS1_uc010zzb.1_5'UTR|BCAS1_uc010gim.2_5'UTR|BCAS1_uc002xwt.2_Missense_Mutation_p.A73V|BCAS1_uc010gil.1_Missense_Mutation_p.A73V|BCAS1_uc010zzc.1_5'UTR	NM_003657	NP_003648	O75363	BCAS1_HUMAN	breast carcinoma amplified sequence 1	73						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)			GTTGGCATCCGCAACAGCACT	0.493												
TUBB1	81027	broad.mit.edu	37	20	57597917	57597917	+	Silent	SNP	T	T	C			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr20:57597917T>C	uc002yak.2	+	2	344	c.75T>C	c.(73-75)GGT>GGC	p.G25G		NM_030773	NP_110400	Q9H4B7	TBB1_HUMAN	beta tubulin 1, class VI	25					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity			ovary(1)	1	all_lung(29;0.00711)		Colorectal(105;0.109)		Colchicine(DB01394)|Docetaxel(DB01248)|Paclitaxel(DB01229)|Vindesine(DB00309)	AGATGATTGGTGAGGAACACG	0.552												
ZNF831	128611	broad.mit.edu	37	20	57769627	57769627	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr20:57769627T>C	uc002yan.2	+	1	3553	c.3553T>C	c.(3553-3555)TGG>CGG	p.W1185R		NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	1185						intracellular	nucleic acid binding|zinc ion binding			skin(13)|ovary(1)	14	all_lung(29;0.0085)					GCGGCTCACGTGGTGTTGCCT	0.637												
PPP1R3D	5509	broad.mit.edu	37	20	58514148	58514148	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr20:58514148C>T	uc002ybb.2	-	1	1205	c.839G>A	c.(838-840)CGC>CAC	p.R280H	C20orf177_uc002yba.2_Intron|C20orf177_uc010zzx.1_5'Flank|C20orf177_uc002ybc.2_5'Flank	NM_006242	NP_006233	O95685	PPR3D_HUMAN	protein phosphatase 1, regulatory subunit 3D	280					glycogen metabolic process		protein binding|protein serine/threonine phosphatase activity				0	all_lung(29;0.00391)		BRCA - Breast invasive adenocarcinoma(7;5.12e-09)			CGCGTGGTTGCGACATGTGAG	0.652												
CDH4	1002	broad.mit.edu	37	20	60498546	60498546	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr20:60498546C>T	uc002ybn.1	+	10	1426	c.1412C>T	c.(1411-1413)ACA>ATA	p.T471I	CDH4_uc002ybp.1_Missense_Mutation_p.T397I	NM_001794	NP_001785	P55283	CADH4_HUMAN	cadherin 4, type 1 preproprotein	471	Cadherin 3.|Extracellular (Potential).				adherens junction organization|cell junction assembly		calcium ion binding			lung(3)|ovary(2)|skin(1)	6			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			TTCATGCTGACAGTGATGGTG	0.602												
CDH4	1002	broad.mit.edu	37	20	60509183	60509183	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr20:60509183C>T	uc002ybn.1	+	15	2463	c.2449C>T	c.(2449-2451)CGT>TGT	p.R817C	CDH4_uc002ybp.1_Missense_Mutation_p.R743C	NM_001794	NP_001785	P55283	CADH4_HUMAN	cadherin 4, type 1 preproprotein	817	Cytoplasmic (Potential).				adherens junction organization|cell junction assembly		calcium ion binding			lung(3)|ovary(2)|skin(1)	6			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			CCCTGGCGTGCGTCGCGTGGA	0.682												
LAMA5	3911	broad.mit.edu	37	20	60887787	60887787	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr20:60887787A>G	uc002ycq.2	-	67	9195	c.9128T>C	c.(9127-9129)GTG>GCG	p.V3043A		NM_005560	NP_005551	O15230	LAMA5_HUMAN	laminin alpha 5 precursor	3043	Laminin G-like 2.				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			ovary(1)|pancreas(1)|skin(1)	3	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GGCCCGCTCCACACGCACCAG	0.701												
COL20A1	57642	broad.mit.edu	37	20	61943318	61943318	+	Missense_Mutation	SNP	G	G	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr20:61943318G>T	uc011aau.1	+	14	1814	c.1714G>T	c.(1714-1716)GCG>TCG	p.A572S	COL20A1_uc011aav.1_Missense_Mutation_p.A393S	NM_020882	NP_065933	Q9P218	COKA1_HUMAN	collagen, type XX, alpha 1	572	Fibronectin type-III 4.				cell adhesion	collagen|extracellular space	structural molecule activity			central_nervous_system(1)	1	all_cancers(38;1.39e-10)					GAGCCACGACGCGGCACGAGT	0.677												
ZNF512B	57473	broad.mit.edu	37	20	62598853	62598853	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr20:62598853G>A	uc002yhl.1	-	3	199	c.145C>T	c.(145-147)CAG>TAG	p.Q49*		NM_020713	NP_065764	Q96KM6	Z512B_HUMAN	zinc finger protein 512B	49					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					GGCACTGTCTGTCCACCACGG	0.627												
OPRL1	4987	broad.mit.edu	37	20	62729410	62729410	+	Silent	SNP	G	G	A	rs141501506		TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr20:62729410G>A	uc002yic.2	+	4	891	c.489G>A	c.(487-489)ACG>ACA	p.T163T	OPRL1_uc002yid.2_Silent_p.T163T|OPRL1_uc002yif.3_Silent_p.T158T	NM_182647	NP_872588	P41146	OPRX_HUMAN	opiate receptor-like 1	163	Cytoplasmic (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)					ACGTCCGCACGTCCAGCAAAG	0.587												
NPBWR2	2832	broad.mit.edu	37	20	62738003	62738003	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr20:62738003G>A	uc011abt.1	-	1	182	c.182C>T	c.(181-183)ACT>ATT	p.T61I		NM_005286	NP_005277	P48146	NPBW2_HUMAN	neuropeptides B/W receptor 2	61	Helical; Name=1; (Potential).					plasma membrane	opioid receptor activity|protein binding			large_intestine(1)	1	all_cancers(38;2.58e-11)|all_epithelial(29;6.4e-13)|Lung NSC(23;1.25e-09)|all_lung(23;4.21e-09)					CGTGTTGCCAGTCAGCCCCAC	0.607												
MYT1	4661	broad.mit.edu	37	20	62839761	62839761	+	Silent	SNP	G	G	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr20:62839761G>A	uc002yii.2	+	7	1576	c.1212G>A	c.(1210-1212)GAG>GAA	p.E404E	MYT1_uc002yih.2_Intron|MYT1_uc002yij.2_Silent_p.E36E	NM_004535	NP_004526	Q01538	MYT1_HUMAN	myelin transcription factor 1	404					cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)	2	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					CGCCTGCCGAGCAGAGCCAGC	0.652												
MYT1	4661	broad.mit.edu	37	20	62871118	62871118	+	Silent	SNP	C	C	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr20:62871118C>A	uc002yii.2	+	22	3463	c.3099C>A	c.(3097-3099)TCC>TCA	p.S1033S	MYT1_uc002yij.2_Silent_p.S692S|MYT1_uc002yik.2_5'UTR	NM_004535	NP_004526	Q01538	MYT1_HUMAN	myelin transcription factor 1	1033					cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)	2	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					CACAGATCTCCTCCATGGAGA	0.587												
TPTE	7179	broad.mit.edu	37	21	10969127	10969127	+	Missense_Mutation	SNP	G	G	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr21:10969127G>T	uc002yip.1	-	7	489	c.121C>A	c.(121-123)CCA>ACA	p.P41T	TPTE_uc002yis.1_Intron|TPTE_uc002yiq.1_Intron|TPTE_uc002yir.1_Intron|TPTE_uc010gkv.1_Intron	NM_199261	NP_954870	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	41					signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			ovary(2)|lung(1)|breast(1)|skin(1)	5			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		CTTGTGTGTGGGCTAGAGGAT	0.269												
NCAM2	4685	broad.mit.edu	37	21	22664426	22664426	+	Silent	SNP	C	C	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr21:22664426C>A	uc002yld.1	+	5	733	c.484C>A	c.(484-486)CGG>AGG	p.R162R	NCAM2_uc011acb.1_Silent_p.R20R|NCAM2_uc011acc.1_Silent_p.R187R	NM_004540	NP_004531	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2 precursor	162	Ig-like C2-type 2.|Extracellular (Potential).				neuron cell-cell adhesion	integral to membrane|plasma membrane				ovary(4)	4		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		CTTTCCAGATCGGTTCGCTAT	0.403												
APP	351	broad.mit.edu	37	21	27394347	27394347	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr21:27394347A>G	uc002ylz.2	-	6	874	c.674T>C	c.(673-675)GTA>GCA	p.V225A	APP_uc010glk.2_Missense_Mutation_p.V220A|APP_uc002yma.2_Missense_Mutation_p.V225A|APP_uc011ach.1_Missense_Mutation_p.V169A|APP_uc002ymb.2_Missense_Mutation_p.V225A|APP_uc010glj.2_Missense_Mutation_p.V169A|APP_uc011aci.1_Missense_Mutation_p.V190A|APP_uc011acj.1_Missense_Mutation_p.V225A	NM_000484	NP_000475	P05067	A4_HUMAN	amyloid beta A4 protein isoform a precursor	225	Extracellular (Potential).				adult locomotory behavior|axon cargo transport|axon midline choice point recognition|cell adhesion|cellular copper ion homeostasis|collateral sprouting in absence of injury|dendrite development|endocytosis|extracellular matrix organization|G2 phase of mitotic cell cycle|innate immune response|ionotropic glutamate receptor signaling pathway|mating behavior|mRNA polyadenylation|neuron apoptosis|neuron remodeling|Notch signaling pathway|platelet activation|platelet degranulation|positive regulation of mitotic cell cycle|protein phosphorylation|regulation of epidermal growth factor receptor activity|regulation of multicellular organism growth|regulation of synapse structure and activity|regulation of translation|visual learning	axon|cell surface|coated pit|dendritic shaft|dendritic spine|extracellular region|Golgi apparatus|integral to plasma membrane|platelet alpha granule lumen	acetylcholine receptor binding|DNA binding|heparin binding|identical protein binding|metal ion binding|protein binding|protein binding|PTB domain binding|serine-type endopeptidase inhibitor activity			ovary(1)	1		Breast(209;0.00295)				tacttctactactttgtcttc	0.154												
CLDN17	26285	broad.mit.edu	37	21	31538742	31538742	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr21:31538742T>C	uc011acv.1	-	1	194	c.194A>G	c.(193-195)AAG>AGG	p.K65R		NM_012131	NP_036263	P56750	CLD17_HUMAN	claudin 17	65	Extracellular (Potential).				calcium-independent cell-cell adhesion|tight junction assembly	Golgi apparatus|integral to membrane|tight junction	identical protein binding|structural molecule activity			ovary(2)	2						GCTATAGAACTTGCATTGCAA	0.542												
KRTAP13-2	337959	broad.mit.edu	37	21	31744414	31744414	+	Missense_Mutation	SNP	G	G	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr21:31744414G>T	uc002ynz.3	-	1	144	c.118C>A	c.(118-120)CTC>ATC	p.L40I		NM_181621	NP_853652	Q52LG2	KR132_HUMAN	keratin associated protein 13-2	40						intermediate filament					0						GGAGAGCAGAGGTCAGTGCTG	0.592												
SYNJ1	8867	broad.mit.edu	37	21	34003306	34003306	+	Silent	SNP	T	T	C			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr21:34003306T>C	uc002yqh.2	-	32	4838	c.4838A>G	c.(4837-4839)TAA>TGA	p.*1613*	SYNJ1_uc011ads.1_3'UTR|SYNJ1_uc002yqf.2_3'UTR|SYNJ1_uc002yqg.2_Silent_p.*1527*|SYNJ1_uc002yqi.2_3'UTR|SYNJ1_uc002yqe.3_Silent_p.*199*	NM_003895	NP_003886	O43426	SYNJ1_HUMAN	synaptojanin 1 isoform a	1613							inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding			ovary(4)|skin(1)	5						TGCATGGCGTTATCTTTCTGT	0.478												
SYNJ1	8867	broad.mit.edu	37	21	34045776	34045776	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr21:34045776G>A	uc002yqh.2	-	14	1717	c.1717C>T	c.(1717-1719)CGA>TGA	p.R573*	SYNJ1_uc011ads.1_Nonsense_Mutation_p.R529*|SYNJ1_uc002yqf.2_Nonsense_Mutation_p.R534*|SYNJ1_uc002yqg.2_Nonsense_Mutation_p.R529*|SYNJ1_uc002yqi.2_Nonsense_Mutation_p.R573*	NM_003895	NP_003886	O43426	SYNJ1_HUMAN	synaptojanin 1 isoform a	534	Catalytic (Potential).						inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding			ovary(4)|skin(1)	5						ACACATACTCGAATTTTCTTA	0.388												
PRDM15	63977	broad.mit.edu	37	21	43248570	43248570	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr21:43248570A>G	uc002yzq.1	-	19	2695	c.2584T>C	c.(2584-2586)TTC>CTC	p.F862L	PRDM15_uc002yzo.2_Missense_Mutation_p.F533L|PRDM15_uc002yzp.2_Missense_Mutation_p.F553L|PRDM15_uc002yzr.1_Missense_Mutation_p.F553L	NM_022115	NP_071398	P57071	PRD15_HUMAN	PR domain containing 15 isoform 1	862	C2H2-type 5.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						TTGCGGTAGAACATCTTGCTG	0.602												
CBS	875	broad.mit.edu	37	21	44486452	44486452	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr21:44486452C>T	uc002zcu.2	-	5	597	c.352G>A	c.(352-354)GTG>ATG	p.V118M	CBS_uc002zcs.1_Missense_Mutation_p.V13M|CBS_uc002zct.2_Missense_Mutation_p.V118M|CBS_uc002zcw.3_Missense_Mutation_p.V118M|CBS_uc002zcv.2_Missense_Mutation_p.V118M	NM_000071	NP_000062	P35520	CBS_HUMAN	cystathionine-beta-synthase	118					cysteine biosynthetic process from serine|cysteine biosynthetic process via cystathionine|homocysteine catabolic process|hydrogen sulfide biosynthetic process|L-cysteine catabolic process|L-serine catabolic process	cytosol|nucleolus	cystathionine beta-synthase activity|heme binding|protein homodimerization activity|pyridoxal phosphate binding|ubiquitin protein ligase binding				0					L-Cysteine(DB00151)|L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)|S-Adenosylmethionine(DB00118)	CGGTCCTTCACGCTCCCGCCC	0.627												
PDXK	8566	broad.mit.edu	37	21	45163612	45163612	+	Silent	SNP	G	G	A	rs144786200		TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr21:45163612G>A	uc002zdm.3	+	4	453	c.255G>A	c.(253-255)ACG>ACA	p.T85T	PDXK_uc010gpj.2_Silent_p.T85T|PDXK_uc002zdn.3_Intron|PDXK_uc002zdq.3_Silent_p.T12T	NM_003681	NP_003672	O00764	PDXK_HUMAN	pyridoxal kinase	85					cell proliferation|pyridoxal 5'-phosphate salvage	cytosol	ATP binding|lithium ion binding|magnesium ion binding|potassium ion binding|protein homodimerization activity|pyridoxal kinase activity|pyridoxal phosphate binding|sodium ion binding|zinc ion binding				0				Colorectal(79;0.109)|READ - Rectum adenocarcinoma(84;0.161)|STAD - Stomach adenocarcinoma(101;0.18)	Pyridoxal(DB00147)|Pyridoxine(DB00165)	AAGGTTATACGAGGGACAAGT	0.572												
AGPAT3	56894	broad.mit.edu	37	21	45401009	45401009	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr21:45401009G>A	uc002zdv.2	+	9	1205	c.983G>A	c.(982-984)GGC>GAC	p.G328D	AGPAT3_uc002zdw.2_Missense_Mutation_p.G328D|AGPAT3_uc002zdx.2_Missense_Mutation_p.G415D|AGPAT3_uc002zdy.2_Missense_Mutation_p.G266D	NM_020132	NP_064517	Q9NRZ7	PLCC_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 3	328	Helical; (Potential).				phospholipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	1-acylglycerol-3-phosphate O-acyltransferase activity				0				STAD - Stomach adenocarcinoma(101;0.18)|Colorectal(79;0.24)		TTTGTCTTGGGCGTCTTTGCC	0.582												
C21orf29	54084	broad.mit.edu	37	21	45941887	45941887	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr21:45941887A>G	uc002zfe.1	-	9	1511	c.1445T>C	c.(1444-1446)TTC>TCC	p.F482S	C21orf29_uc010gpv.1_Missense_Mutation_p.F414S	NM_144991	NP_659428	Q8WU66	TSEAR_HUMAN	chromosome 21 open reading frame 29 precursor	482	EAR 4.				cell adhesion	extracellular region	structural molecule activity				0						CCCCACACTGAAGAACTCCCA	0.607												
MCM3AP	8888	broad.mit.edu	37	21	47695152	47695152	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr21:47695152C>T	uc002zir.1	-	6	1982	c.1946G>A	c.(1945-1947)CGG>CAG	p.R649Q		NM_003906	NP_003897	O60318	MCM3A_HUMAN	minichromosome maintenance complex component 3	649					DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding			large_intestine(2)|lung(1)|ovary(1)|skin(1)	5	Breast(49;0.112)					ACGGGTCTCCCGCATGTACCT	0.592												
CECR2	27443	broad.mit.edu	37	22	18022149	18022149	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr22:18022149G>A	uc010gqw.1	+	15	2377	c.2251G>A	c.(2251-2253)GTC>ATC	p.V751I	CECR2_uc010gqv.1_Missense_Mutation_p.V610I|CECR2_uc002zml.2_Missense_Mutation_p.V610I	NM_031413	NP_113601	Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2	793					chromatin modification|cytokinesis|cytoskeleton organization|DNA fragmentation involved in apoptotic nuclear change|vesicle-mediated transport		protein binding			ovary(1)|skin(1)	2		all_epithelial(15;0.139)		Lung(27;0.146)		ACACTCTGCCGTCTGGAATGG	0.587												
MICAL3	57553	broad.mit.edu	37	22	18347700	18347700	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr22:18347700G>A	uc002zng.3	-	19	2923	c.2570C>T	c.(2569-2571)GCC>GTC	p.A857V	MICAL3_uc011agl.1_Missense_Mutation_p.A857V|MICAL3_uc002znh.2_Missense_Mutation_p.A857V|MICAL3_uc002znj.1_Missense_Mutation_p.A585V|MICAL3_uc002znk.1_Missense_Mutation_p.A857V|MICAL3_uc002znl.1_Missense_Mutation_p.A490V|MICAL3_uc002znm.2_Missense_Mutation_p.A358V|MICAL3_uc010grf.2_Missense_Mutation_p.A981V	NM_015241	NP_056056	Q7RTP6	MICA3_HUMAN	microtubule associated monoxygenase, calponin	857						cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding				0		all_epithelial(15;0.198)		Lung(27;0.0427)		CACGGCGTTGGCCCGTCCGTT	0.587												
TUBA8	51807	broad.mit.edu	37	22	18604328	18604328	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr22:18604328G>A	uc002znv.1	+	2	159	c.86G>A	c.(85-87)GGC>GAC	p.G29D	TUBA8_uc002znr.2_5'UTR|TUBA8_uc002znw.1_Missense_Mutation_p.G53D|TUBA8_uc002znu.1_Missense_Mutation_p.G29D	NM_018943	NP_061816	Q9NY65	TBA8_HUMAN	tubulin, alpha 8	29					microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity				0						CTGGAACACGGCATCCAGGCA	0.552												
CLTCL1	8218	broad.mit.edu	37	22	19197931	19197931	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr22:19197931C>T	uc002zpb.2	-	20	3229	c.3154G>A	c.(3154-3156)GCA>ACA	p.A1052T	CLTCL1_uc011agv.1_Missense_Mutation_p.A1052T|CLTCL1_uc011agw.1_Missense_Mutation_p.A1052T|CLTCL1_uc011agt.1_5'Flank|CLTCL1_uc011agu.1_5'Flank|CLTCL1_uc010grm.1_5'Flank|CLTCL1_uc002zpe.2_Missense_Mutation_p.A12T|CLTCL1_uc002zpd.1_Missense_Mutation_p.A12T	NM_007098	NP_009029	P53675	CLH2_HUMAN	clathrin, heavy polypeptide-like 1 isoform 1	1052	Proximal segment.|Heavy chain arm.				anatomical structure morphogenesis|intracellular protein transport|mitosis|positive regulation of glucose import|receptor-mediated endocytosis	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|spindle|trans-Golgi network	protein binding|signal transducer activity|structural molecule activity			ovary(4)|central_nervous_system(1)	5	Colorectal(54;0.0993)					ATGTCCAGTGCGTCATAGTTG	0.537			T	?	ALCL							
PI4KA	5297	broad.mit.edu	37	22	21064220	21064220	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr22:21064220C>T	uc002zsz.3	-	53	6206	c.5975G>A	c.(5974-5976)CGC>CAC	p.R1992H	PI4KA_uc010gsp.2_Missense_Mutation_p.R383H|PI4KA_uc002zsy.3_Missense_Mutation_p.R802H	NM_058004	NP_477352	P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase type 3 alpha	1992	PI3K/PI4K.				phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission	Golgi-associated vesicle	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding			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)			TGTCTGGCCGCGAAAACAGGG	0.592												
LZTR1	8216	broad.mit.edu	37	22	21342386	21342386	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr22:21342386C>T	uc002zto.2	+	5	591	c.488C>T	c.(487-489)ACG>ATG	p.T163M	LZTR1_uc002ztn.2_Missense_Mutation_p.T122M|LZTR1_uc011ahy.1_Missense_Mutation_p.T144M|LZTR1_uc010gsr.1_Missense_Mutation_p.T34M	NM_006767	NP_006758	Q8N653	LZTR1_HUMAN	leucine-zipper-like transcription regulator 1	163	Kelch 2.				anatomical structure morphogenesis		sequence-specific DNA binding transcription factor activity			ovary(2)|lung(2)	4	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			GGCCAGTGGACGGAGTGGAAA	0.473												
CCDC116	164592	broad.mit.edu	37	22	21989291	21989291	+	Silent	SNP	G	G	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr22:21989291G>A	uc002zve.2	+	4	1032	c.939G>A	c.(937-939)CTG>CTA	p.L313L	CCDC116_uc011aih.1_Silent_p.L313L	NM_152612	NP_689825	Q8IYX3	CC116_HUMAN	coiled-coil domain containing 116	313										ovary(1)|skin(1)	2	Colorectal(54;0.105)					TCCCTGCCCTGCAAAGCGTGG	0.662												
PPIL2	23759	broad.mit.edu	37	22	22025326	22025326	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr22:22025326G>A	uc010gtj.1	+	4	285	c.169G>A	c.(169-171)GAT>AAT	p.D57N	PPIL2_uc002zvh.3_Missense_Mutation_p.D57N|PPIL2_uc002zvi.3_Missense_Mutation_p.D57N|PPIL2_uc002zvg.3_Missense_Mutation_p.D57N|PPIL2_uc011aij.1_Intron	NM_148175	NP_680480	Q13356	PPIL2_HUMAN	peptidylprolyl isomerase-like 2 isoform a	57	U-box.				blood coagulation|leukocyte migration|protein folding|protein polyubiquitination	Golgi lumen|nucleus|ubiquitin ligase complex	peptidyl-prolyl cis-trans isomerase activity|ubiquitin-ubiquitin ligase activity			ovary(2)	2	Colorectal(54;0.105)					CTGCACTCCCGATGGCATCGT	0.493												
SUSD2	56241	broad.mit.edu	37	22	24579170	24579170	+	Silent	SNP	C	C	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr22:24579170C>T	uc002zzn.1	+	2	266	c.222C>T	c.(220-222)GGC>GGT	p.G74G		NM_019601	NP_062547	Q9UGT4	SUSD2_HUMAN	sushi domain containing 2 precursor	74	Extracellular (Potential).				immune response	integral to membrane	polysaccharide binding|protein binding|scavenger receptor activity			skin(1)	1						CCATGATGGGCGGCAAGGACT	0.622												
C22orf36	388886	broad.mit.edu	37	22	24981946	24981946	+	Missense_Mutation	SNP	C	C	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr22:24981946C>A	uc003aaq.2	-	4	885	c.856G>T	c.(856-858)GGC>TGC	p.G286C	GGT1_uc003aan.1_Intron|C22orf36_uc003aao.2_RNA|C22orf36_uc003aap.2_RNA	NM_207644	NP_997527	Q2VPJ9	LRC6X_HUMAN	hypothetical protein LOC388886	286											0						GCCGCACTGCCCTCAGGCTCA	0.731												
PIWIL3	440822	broad.mit.edu	37	22	25150758	25150758	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr22:25150758G>A	uc003abd.1	-	7	1183	c.766C>T	c.(766-768)CGT>TGT	p.R256C	PIWIL3_uc011ajx.1_Missense_Mutation_p.R147C|PIWIL3_uc011ajy.1_Missense_Mutation_p.R147C|PIWIL3_uc010gut.1_Missense_Mutation_p.R256C	NM_001008496	NP_001008496	Q7Z3Z3	PIWL3_HUMAN	piwi-like 3	256					cell differentiation|gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatogenesis	cytoplasm	RNA binding			ovary(3)|central_nervous_system(1)	4						AACCCATGACGGTATAACTGA	0.338												
MYO18B	84700	broad.mit.edu	37	22	26423476	26423476	+	Silent	SNP	C	C	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr22:26423476C>T	uc003abz.1	+	43	7786	c.7536C>T	c.(7534-7536)TCC>TCT	p.S2512S	MYO18B_uc003aca.1_Silent_p.S2393S|MYO18B_uc010guy.1_Silent_p.S2394S|MYO18B_uc010guz.1_Silent_p.S2392S|MYO18B_uc011aka.1_Silent_p.S1666S|MYO18B_uc011akb.1_Silent_p.S2025S|MYO18B_uc010gva.1_Silent_p.S495S|MYO18B_uc010gvb.1_RNA	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	2512	Poly-Ser.					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			ovary(5)|central_nervous_system(3)|large_intestine(2)|breast(2)	12						CCTCATCCTCCGGCTCCATCG	0.582												
KREMEN1	83999	broad.mit.edu	37	22	29490351	29490351	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr22:29490351A>G	uc011akm.1	+	2	216	c.203A>G	c.(202-204)TAC>TGC	p.Y68C	KREMEN1_uc003ael.2_Missense_Mutation_p.Y68C|KREMEN1_uc011akn.1_Translation_Start_Site	NM_032045	NP_114434	Q96MU8	KREM1_HUMAN	kringle-containing transmembrane protein 1	66	Extracellular (Potential).|Kringle.				cell communication|regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane|membrane fraction	protein binding			ovary(3)|lung(2)	5						CAGCATCCATACAACACTCTG	0.483												
THOC5	8563	broad.mit.edu	37	22	29913074	29913074	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr22:29913074G>A	uc003afr.2	-	18	1960	c.1625C>T	c.(1624-1626)GCG>GTG	p.A542V	THOC5_uc003afq.2_Missense_Mutation_p.A203V|THOC5_uc003afs.2_Missense_Mutation_p.A542V|THOC5_uc003aft.2_Missense_Mutation_p.A542V|THOC5_uc003afu.2_Missense_Mutation_p.A542V|THOC5_uc010gvo.2_Missense_Mutation_p.A286V	NM_001002878	NP_001002878	Q13769	THOC5_HUMAN	THO complex 5	542					intronless viral mRNA export from host nucleus|monocyte differentiation|mRNA processing|primitive hemopoiesis|RNA splicing	cytoplasm|intermediate filament cytoskeleton|THO complex part of transcription export complex	protein binding|RNA binding			breast(3)	3						AGCCAGTCCCGCATCCACAAT	0.537												
MTMR3	8897	broad.mit.edu	37	22	30412615	30412615	+	Silent	SNP	T	T	C			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr22:30412615T>C	uc003agv.3	+	15	1930	c.1602T>C	c.(1600-1602)TGT>TGC	p.C534C	MTMR3_uc003agu.3_Silent_p.C534C|MTMR3_uc003agw.3_Silent_p.C534C	NM_021090	NP_066576	Q13615	MTMR3_HUMAN	myotubularin-related protein 3 isoform c	534	Myotubularin phosphatase.				phosphatidylinositol dephosphorylation	cytoplasm|membrane|membrane fraction|nucleus	metal ion binding|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity			breast(3)|ovary(1)|skin(1)	5			OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107)			AACGGACATGTTCCGTGTGGT	0.493												
LIF	3976	broad.mit.edu	37	22	30640888	30640888	+	Silent	SNP	T	T	C			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr22:30640888T>C	uc003agz.2	-	2	166	c.54A>G	c.(52-54)AAA>AAG	p.K18K	LIF_uc011aks.1_Intron|uc003aha.2_5'Flank	NM_002309	NP_002300	P15018	LIF_HUMAN	leukemia inhibitory factor (cholinergic	18					immune response|leukemia inhibitory factor signaling pathway|negative regulation of hormone secretion|positive regulation of cell proliferation|positive regulation of macrophage differentiation|positive regulation of MAPKKK cascade|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of peptidyl-serine phosphorylation of STAT protein|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tyrosine phosphorylation of Stat1 protein|positive regulation of tyrosine phosphorylation of Stat3 protein|regulation of metanephric nephron tubule epithelial cell differentiation		cytokine activity|growth factor activity|leukemia inhibitory factor receptor binding				0			Epithelial(10;0.171)			CCGCCCCATGTTTCCAGTGCA	0.592												
DUSP18	150290	broad.mit.edu	37	22	31059826	31059826	+	Missense_Mutation	SNP	C	C	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr22:31059826C>A	uc003aiu.2	-	2	666	c.165G>T	c.(163-165)GAG>GAT	p.E55D	SLC35E4_uc003ait.2_Intron|DUSP18_uc010gwa.1_RNA|DUSP18_uc003aiw.1_Missense_Mutation_p.E55D	NM_152511	NP_689724	Q8NEJ0	DUS18_HUMAN	dual specificity phosphatase 18	55						cytoplasm|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity				0						TGTTCACTACCTCCACTGAGA	0.483												
CARD10	29775	broad.mit.edu	37	22	37914037	37914037	+	Missense_Mutation	SNP	G	G	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr22:37914037G>T	uc003asx.1	-	2	317	c.314C>A	c.(313-315)CCC>CAC	p.P105H	CARD10_uc003ast.1_RNA|CARD10_uc003asy.1_Missense_Mutation_p.P105H	NM_014550	NP_055365	Q9BWT7	CAR10_HUMAN	caspase recruitment domain protein 10	105	CARD.				activation of NF-kappaB-inducing kinase activity|protein complex assembly|regulation of apoptosis	CBM complex	receptor signaling complex scaffold activity			upper_aerodigestive_tract(1)|lung(1)|breast(1)|ovary(1)|prostate(1)|kidney(1)	6	Melanoma(58;0.0574)					GAAGTGTTCGGGGTAGTAGAA	0.627												
SOX10	6663	broad.mit.edu	37	22	38369825	38369825	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr22:38369825T>C	uc003aun.1	-	4	1356	c.1078A>G	c.(1078-1080)ACC>GCC	p.T360A	POLR2F_uc003aum.2_Intron|SOX10_uc003auo.1_Missense_Mutation_p.T360A	NM_006941	NP_008872	P56693	SOX10_HUMAN	SRY (sex determining region Y)-box 10	360						cytoplasm|nucleus	DNA binding|identical protein binding|transcription coactivator activity				0	Melanoma(58;0.045)					GGCCCCGCGGTCTCTGTCTTC	0.662												
TMEM184B	25829	broad.mit.edu	37	22	38621482	38621482	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr22:38621482C>T	uc003avf.1	-	7	960	c.736G>A	c.(736-738)GTC>ATC	p.V246I	TMEM184B_uc003avg.1_Missense_Mutation_p.V246I|TMEM184B_uc003avh.1_Missense_Mutation_p.V180I|TMEM184B_uc010gxl.1_RNA	NM_012264	NP_036396	Q9Y519	T184B_HUMAN	transmembrane protein 184B	246						integral to membrane					0	Melanoma(58;0.045)					AACTTGAGGACGGGGCTGTAG	0.592												
CBX6	23466	broad.mit.edu	37	22	39262317	39262317	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr22:39262317G>A	uc003awl.2	-	5	1199	c.1136C>T	c.(1135-1137)ACG>ATG	p.T379M		NM_014292	NP_055107	O95503	CBX6_HUMAN	chromobox homolog 6	379					chromatin modification|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	PcG protein complex					0	Melanoma(58;0.04)					GATTGTGACCGTCAGGAGGTT	0.652												
TAB1	10454	broad.mit.edu	37	22	39772162	39772162	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr22:39772162G>A	uc003axr.2	+	2	2003	c.221G>A	c.(220-222)CGG>CAG	p.R74Q	SYNGR1_uc003axo.3_Missense_Mutation_p.R148Q|SYNGR1_uc003axp.3_Silent_p.P114P|SYNGR1_uc003axq.3_Missense_Mutation_p.R148Q|SYNGR1_uc003axs.3_Missense_Mutation_p.R149Q	NM_006116	NP_006107	Q15750	TAB1_HUMAN	mitogen-activated protein kinase kinase kinase 7	Error:Variant_position_missing_in_Q15750_after_alignment					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						GACGCAGCCCGGGCCGCCATC	0.622												
CACNA1I	8911	broad.mit.edu	37	22	40064344	40064344	+	Silent	SNP	C	C	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr22:40064344C>T	uc003ayc.2	+	24	4152	c.4152C>T	c.(4150-4152)AAC>AAT	p.N1384N	CACNA1I_uc003ayd.2_Silent_p.N1349N|CACNA1I_uc003aye.2_Silent_p.N1299N|CACNA1I_uc003ayf.2_Silent_p.N1264N	NM_021096	NP_066919	Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type,	1384	Extracellular (Potential).|III.				axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding			breast(1)|central_nervous_system(1)	2	Melanoma(58;0.0749)				Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)	GTTGGGTGAACATCATGTACA	0.572												
EP300	2033	broad.mit.edu	37	22	41574817	41574817	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr22:41574817G>A	uc003azl.3	+	31	7497	c.7102G>A	c.(7102-7104)GAC>AAC	p.D2368N		NM_001429	NP_001420	Q09472	EP300_HUMAN	E1A binding protein p300	2368					apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(22)|large_intestine(13)|breast(9)|central_nervous_system(5)|upper_aerodigestive_tract(4)|pancreas(4)|lung(3)|ovary(2)|stomach(1)|skin(1)	64						TGCCAGCCCGGACCAGAATTC	0.567			T| N|F|Mis|O	MLL|RUNXBP2	colorectal|breast|pancreatic|AML|ALL|DLBCL				Rubinstein-Taybi_syndrome			
PPARA	5465	broad.mit.edu	37	22	46611162	46611162	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr22:46611162G>A	uc003bgw.1	+	5	567	c.301G>A	c.(301-303)GAA>AAA	p.E101K	PPARA_uc003bgx.1_Missense_Mutation_p.E101K|PPARA_uc010hab.1_Missense_Mutation_p.E101K|PPARA_uc003bha.2_Missense_Mutation_p.E101K|PPARA_uc003bhb.1_Missense_Mutation_p.E101K|PPARA_uc010hac.1_5'UTR	NM_005036	NP_005027	Q07869	PPARA_HUMAN	peroxisome proliferative activated receptor,	101	Nuclear receptor.				fatty acid metabolic process|fatty acid transport|negative regulation of appetite|negative regulation of cholesterol storage|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|positive regulation of fatty acid beta-oxidation|regulation of cellular ketone metabolic process by positive regulation of transcription from an RNA polymerase II promoter|regulation of glycolysis by positive regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by positive regulation of transcription from an RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	drug binding|ligand-regulated transcription factor activity|lipid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|ubiquitin conjugating enzyme binding|zinc ion binding			ovary(1)|central_nervous_system(1)	2		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00522)	Atorvastatin(DB01076)|Bezafibrate(DB01393)|Clofibrate(DB00636)|Fenofibrate(DB01039)|Gemfibrozil(DB01241)|Simvastatin(DB00641)	ATTGAACATCGAATGTAGAAT	0.597												
CELSR1	9620	broad.mit.edu	37	22	46780469	46780469	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr22:46780469G>A	uc003bhw.1	-	20	6854	c.6854C>T	c.(6853-6855)GCC>GTC	p.A2285V	CELSR1_uc011arc.1_Missense_Mutation_p.A606V	NM_014246	NP_055061	Q9NYQ6	CELR1_HUMAN	cadherin EGF LAG seven-pass G-type receptor 1	2285	Extracellular (Potential).				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity			lung(4)|breast(4)|pancreas(2)|skin(1)	11		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		GAAGAAGTCGGCTGGGAAGGA	0.582												
SELO	83642	broad.mit.edu	37	22	50647139	50647139	+	Silent	SNP	C	C	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr22:50647139C>T	uc011arr.1	+	3	991	c.933C>T	c.(931-933)TTC>TTT	p.F311F	SELO_uc010hap.2_Silent_p.F122F|SELO_uc003bjy.2_5'UTR|SELO_uc003bjz.2_5'Flank	NM_031454	NP_113642	Q9BVL4	SELO_HUMAN	selenoprotein O	311											0		all_cancers(38;1.14e-10)|all_epithelial(38;2.12e-09)|all_lung(38;7.01e-05)|Breast(42;0.000523)|Lung NSC(38;0.0018)|Ovarian(80;0.0365)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.105)		CTGCCTTCTTCCGGGAGGTCA	0.607												
TUBGCP6	85378	broad.mit.edu	37	22	50682331	50682331	+	Silent	SNP	T	T	C			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr22:50682331T>C	uc003bkb.1	-	1	1070	c.558A>G	c.(556-558)CCA>CCG	p.P186P	TUBGCP6_uc010har.1_Silent_p.P186P|TUBGCP6_uc010has.1_RNA|TUBGCP6_uc010hau.1_Silent_p.P186P	NM_020461	NP_065194	Q96RT7	GCP6_HUMAN	tubulin, gamma complex associated protein 6	186					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)		GGCCAGTGCCTGGAGCAGCCT	0.557												
PLXNB2	23654	broad.mit.edu	37	22	50720088	50720088	+	Silent	SNP	C	C	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr22:50720088C>A	uc003bkv.3	-	21	3535	c.3429G>T	c.(3427-3429)ACG>ACT	p.T1143T	PLXNB2_uc003bkt.1_5'UTR|PLXNB2_uc003bku.1_Silent_p.T128T	NM_012401	NP_036533	O15031	PLXB2_HUMAN	plexin B2 precursor	1143	Extracellular (Potential).				regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity			ovary(4)|central_nervous_system(1)|skin(1)	6		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)		GGTCGGTCTCCGTCAGCGTCT	0.657												
SAPS2	9701	broad.mit.edu	37	22	50869710	50869710	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr22:50869710G>A	uc003blb.1	+	12	1656	c.1234G>A	c.(1234-1236)GGA>AGA	p.G412R	SAPS2_uc003bky.1_Missense_Mutation_p.G412R|SAPS2_uc003bkz.1_Missense_Mutation_p.G412R|SAPS2_uc003blc.2_Missense_Mutation_p.G412R|SAPS2_uc003bla.1_Missense_Mutation_p.G413R|SAPS2_uc003bld.1_5'UTR	NM_014678	NP_055493	O75170	PP6R2_HUMAN	SAPS domain family, member 2	412						cytoplasm|intracellular membrane-bounded organelle	protein binding				0		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.222)		AGAAGCCAGCGGATCCGAGAG	0.582												
KLHDC7B	113730	broad.mit.edu	37	22	50987578	50987578	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr22:50987578G>A	uc003bmi.2	+	1	1117	c.983G>A	c.(982-984)CGG>CAG	p.R328Q		NM_138433	NP_612442	Q96G42	KLD7B_HUMAN	kelch domain containing 7B	328	Kelch 1.									central_nervous_system(1)	1		all_cancers(38;1.53e-10)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		OV - Ovarian serous cystadenocarcinoma(4;7.49e-69)|all cancers(3;9.79e-66)|Epithelial(4;1.3e-63)|GBM - Glioblastoma multiforme(4;0.000399)|Lung(4;0.125)|BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		TTCAACCCCCGGGAGAACACC	0.716												
KLHDC7B	113730	broad.mit.edu	37	22	50987635	50987635	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr22:50987635G>A	uc003bmi.2	+	1	1174	c.1040G>A	c.(1039-1041)TGC>TAC	p.C347Y		NM_138433	NP_612442	Q96G42	KLD7B_HUMAN	kelch domain containing 7B	347	Kelch 1.									central_nervous_system(1)	1		all_cancers(38;1.53e-10)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		OV - Ovarian serous cystadenocarcinoma(4;7.49e-69)|all cancers(3;9.79e-66)|Epithelial(4;1.3e-63)|GBM - Glioblastoma multiforme(4;0.000399)|Lung(4;0.125)|BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CTTCGGGGCTGCGGTCTCTGC	0.662												
ATP2B2	491	broad.mit.edu	37	3	10452437	10452437	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr3:10452437G>A	uc003bvt.2	-	3	701	c.262C>T	c.(262-264)CCT>TCT	p.P88S	ATP2B2_uc003bvv.2_Missense_Mutation_p.P88S|ATP2B2_uc003bvw.2_Missense_Mutation_p.P88S|ATP2B2_uc010hdp.2_Missense_Mutation_p.P88S|ATP2B2_uc010hdo.2_5'UTR	NM_001001331	NP_001001331	Q01814	AT2B2_HUMAN	plasma membrane calcium ATPase 2 isoform 1	88	Cytoplasmic (Potential).				ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|ATP binding|calcium ion binding|calcium-transporting ATPase activity|calcium-transporting ATPase activity|calmodulin binding|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding			ovary(3)|skin(2)|central_nervous_system(1)	6						TTCTTTGGAGGTATAAAGTTT	0.557												
TBC1D5	9779	broad.mit.edu	37	3	17208262	17208262	+	Silent	SNP	T	T	C			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr3:17208262T>C	uc003cbf.2	-	21	3756	c.2091A>G	c.(2089-2091)AAA>AAG	p.K697K	TBC1D5_uc010heu.2_Silent_p.K284K|TBC1D5_uc010hev.2_Silent_p.K719K|TBC1D5_uc003cbe.2_Silent_p.K697K	NM_014744	NP_055559	Q92609	TBCD5_HUMAN	TBC1 domain family, member 5 isoform b	697						intracellular	protein binding|Rab GTPase activator activity			ovary(1)	1						TCTGTACCTGTTTAATGGCCC	0.483												
EFHB	151651	broad.mit.edu	37	3	19974823	19974823	+	Silent	SNP	T	T	G			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr3:19974823T>G	uc003cbl.3	-	1	884	c.688A>C	c.(688-690)AGA>CGA	p.R230R	EFHB_uc003cbm.2_Silent_p.R100R	NM_144715	NP_653316	Q8N7U6	EFHB_HUMAN	EF hand domain family, member B	230					signal transduction	proteinaceous extracellular matrix	calcium ion binding				0						GCCTCCTTTCTCTGTTCATGT	0.507												
THRB	7068	broad.mit.edu	37	3	24185077	24185077	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr3:24185077T>C	uc003ccx.3	-	8	1002	c.653A>G	c.(652-654)GAA>GGA	p.E218G	THRB_uc010hfe.2_Missense_Mutation_p.E218G|THRB_uc003ccy.3_Missense_Mutation_p.E218G|THRB_uc003ccz.3_Missense_Mutation_p.E213G	NM_001128176	NP_001121648	P10828	THB_HUMAN	thyroid hormone receptor, beta	218					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	enzyme binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription corepressor activity|zinc ion binding			skin(2)|pancreas(1)	3					Levothyroxine(DB00451)|Liothyronine(DB00279)	GAGCTCCCATTCCTCGTCTGT	0.567												
TRANK1	9881	broad.mit.edu	37	3	36873314	36873314	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr3:36873314C>T	uc003cgj.2	-	12	6280	c.5978G>A	c.(5977-5979)CGC>CAC	p.R1993H		NM_014831	NP_055646	O15050	TRNK1_HUMAN	lupus brain antigen 1	2543					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			ovary(1)|central_nervous_system(1)	2						CCGGAAGTGGCGATACAGGAG	0.592												
TRANK1	9881	broad.mit.edu	37	3	36875321	36875321	+	Missense_Mutation	SNP	T	T	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr3:36875321T>A	uc003cgj.2	-	12	4273	c.3971A>T	c.(3970-3972)TAT>TTT	p.Y1324F		NM_014831	NP_055646	O15050	TRNK1_HUMAN	lupus brain antigen 1	1874					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			ovary(1)|central_nervous_system(1)	2						TGCACTCAGATACTTTGCTGC	0.433												
DLEC1	9940	broad.mit.edu	37	3	38139378	38139378	+	Missense_Mutation	SNP	G	G	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr3:38139378G>T	uc003cho.1	+	18	2730	c.2709G>T	c.(2707-2709)CAG>CAT	p.Q903H	DLEC1_uc003chp.1_Missense_Mutation_p.Q903H|DLEC1_uc010hgv.1_Missense_Mutation_p.Q903H|DLEC1_uc003chr.1_Missense_Mutation_p.Q9H|DLEC1_uc010hgx.1_RNA	NM_007335	NP_031361	Q9Y238	DLEC1_HUMAN	deleted in lung and esophageal cancer 1 isoform	903					negative regulation of cell proliferation	cytoplasm				ovary(2)|pancreas(2)|central_nervous_system(2)|skin(2)|breast(1)	9				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		TCTCCCTCCAGGAAAGGCCTG	0.587												
OXSR1	9943	broad.mit.edu	37	3	38287635	38287635	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr3:38287635C>T	uc003chy.2	+	13	1522	c.1180C>T	c.(1180-1182)CAG>TAG	p.Q394*	OXSR1_uc010hhb.2_Nonsense_Mutation_p.Q328*	NM_005109	NP_005100	O95747	OXSR1_HUMAN	oxidative-stress responsive 1	394					intracellular protein kinase cascade|response to oxidative stress		ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity			skin(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		TCATCTACCTCAGCCAGCTGG	0.493												
WDR48	57599	broad.mit.edu	37	3	39107318	39107318	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr3:39107318C>T	uc003cit.2	+	3	216	c.206C>T	c.(205-207)GCA>GTA	p.A69V	WDR48_uc011ayt.1_Missense_Mutation_p.A69V|WDR48_uc011ayu.1_Intron|WDR48_uc011ayv.1_Intron|WDR48_uc003ciu.2_RNA	NM_020839	NP_065890	Q8TAF3	WDR48_HUMAN	WD repeat domain 48	69					interspecies interaction between organisms|protein deubiquitination	lysosome|nucleus	protein binding			ovary(1)|breast(1)	2				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		CCATATATAGCATCTATGGAA	0.289												
ZNF620	253639	broad.mit.edu	37	3	40557593	40557593	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr3:40557593T>C	uc003ckk.2	+	5	657	c.508T>C	c.(508-510)TTT>CTT	p.F170L	ZNF620_uc003ckl.2_Missense_Mutation_p.F56L	NM_175888	NP_787084	Q6ZNG0	ZN620_HUMAN	zinc finger protein 620	170					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.0519)|Kidney(284;0.0653)		TGGAGAGAAGTTTGAGAAATT	0.403												
C3orf39	84892	broad.mit.edu	37	3	43122150	43122150	+	Silent	SNP	G	G	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr3:43122150G>A	uc003cmq.1	-	2	915	c.774C>T	c.(772-774)CTC>CTT	p.L258L	C3orf39_uc003cmr.1_Silent_p.L258L	NM_032806	NP_116195	Q8NAT1	AGO61_HUMAN	glycosyltransferase precursor	258						extracellular region	transferase activity, transferring glycosyl groups			ovary(1)|skin(1)	2				KIRC - Kidney renal clear cell carcinoma(284;0.0571)|Kidney(284;0.0718)		TGCCTGAGACGAGGATGTTGG	0.562												
C3orf23	285343	broad.mit.edu	37	3	44434452	44434453	+	Nonsense_Mutation	DNP	GC	GC	TT			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr3:44434452_44434453GC>TT	uc010him.2	+	6	923_924	c.678_679GC>TT	c.(676-681)TTGCAA>TTTTAA	p.226_227LQ>F*	C3orf23_uc003cnd.3_Nonsense_Mutation_p.226_227LQ>F*|C3orf23_uc003cne.3_Nonsense_Mutation_p.82_83LQ>F*	NM_173826	NP_776187	Q8N3R3	CC023_HUMAN	hypothetical protein LOC285343 isoform 1	226_227						mitochondrion				upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3				KIRC - Kidney renal clear cell carcinoma(197;0.0468)|Kidney(197;0.0585)		CTCATCAATTGCAACTCTCAGA	0.322												
ZNF197	10168	broad.mit.edu	37	3	44683855	44683855	+	Silent	SNP	G	G	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr3:44683855G>A	uc003cnm.2	+	6	1439	c.1233G>A	c.(1231-1233)TCG>TCA	p.S411S	ZNF197_uc003cnn.2_Intron|ZNF197_uc003cno.2_Intron|ZNF197_uc003cnp.2_Intron	NM_006991	NP_008922	O14709	ZN197_HUMAN	zinc finger protein 197 isoform 1	411	C2H2-type 2.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(3)|skin(1)	4				KIRC - Kidney renal clear cell carcinoma(197;0.0478)|Kidney(197;0.0598)		TTCAGCGTTCGAGCCTTCTAA	0.373												
ZNF197	10168	broad.mit.edu	37	3	44684845	44684845	+	Missense_Mutation	SNP	G	G	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr3:44684845G>T	uc003cnm.2	+	6	2429	c.2223G>T	c.(2221-2223)AAG>AAT	p.K741N	ZNF197_uc003cnn.2_Intron|ZNF197_uc003cno.2_Intron|ZNF197_uc003cnp.2_Intron	NM_006991	NP_008922	O14709	ZN197_HUMAN	zinc finger protein 197 isoform 1	741	C2H2-type 14.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(3)|skin(1)	4				KIRC - Kidney renal clear cell carcinoma(197;0.0478)|Kidney(197;0.0598)		ATTGTGGGAAGGCTTTCAGTT	0.423												
ZNF502	91392	broad.mit.edu	37	3	44762936	44762936	+	Silent	SNP	A	A	G			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr3:44762936A>G	uc011baa.1	+	4	882	c.627A>G	c.(625-627)AAA>AAG	p.K209K	ZNF502_uc003cns.2_Silent_p.K209K|ZNF502_uc011bab.1_Silent_p.K209K|ZNF502_uc003cnt.2_Silent_p.K209K	NM_001134440	NP_001127912	Q8TBZ5	ZN502_HUMAN	zinc finger protein 502	209					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0				BRCA - Breast invasive adenocarcinoma(193;0.00855)|KIRC - Kidney renal clear cell carcinoma(197;0.0471)|Kidney(197;0.0589)		CTGGAGTGAAACCATATGGAT	0.408												
SMARCC1	6599	broad.mit.edu	37	3	47719787	47719787	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr3:47719787C>T	uc003crq.2	-	16	1590	c.1472G>A	c.(1471-1473)CGA>CAA	p.R491Q	SMARCC1_uc011bbc.1_RNA|SMARCC1_uc011bbd.1_Missense_Mutation_p.R382Q	NM_003074	NP_003065	Q92922	SMRC1_HUMAN	SWI/SNF-related matrix-associated	491	SWIRM.				chromatin remodeling|nervous system development|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex|WINAC complex	DNA binding|protein N-terminus binding|transcription coactivator activity			skin(2)|lung(1)	3				BRCA - Breast invasive adenocarcinoma(193;7.47e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)		CATAAAATTTCGATATGCCAA	0.388												
DHX30	22907	broad.mit.edu	37	3	47888976	47888976	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr3:47888976G>A	uc003cru.2	+	13	2486	c.2060G>A	c.(2059-2061)CGC>CAC	p.R687H	DHX30_uc003crt.2_Missense_Mutation_p.R648H|MIR1226_hsa-mir-1226|MI0006313_5'Flank	NM_138615	NP_619520	Q7L2E3	DHX30_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 30	687	Helicase C-terminal.					mitochondrial nucleoid	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding			ovary(2)|skin(2)	4				BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		GTGCAGCAGCGCCTCCAGGAG	0.627												
COL7A1	1294	broad.mit.edu	37	3	48628108	48628108	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr3:48628108C>T	uc003ctz.2	-	13	1779	c.1778G>A	c.(1777-1779)CGG>CAG	p.R593Q		NM_000094	NP_000085	Q02388	CO7A1_HUMAN	alpha 1 type VII collagen precursor	593	Fibronectin type-III 4.|Nonhelical region (NC1).				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)		GTACTCACCCCGGCGGACAGT	0.592												
COL7A1	1294	broad.mit.edu	37	3	48631901	48631901	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr3:48631901C>T	uc003ctz.2	-	2	167	c.166G>A	c.(166-168)GAG>AAG	p.E56K		NM_000094	NP_000085	Q02388	CO7A1_HUMAN	alpha 1 type VII collagen precursor	56	Nonhelical region (NC1).|VWFA 1.				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)		CTGCGGACCTCGCGGAAATTG	0.602												
UQCRC1	7384	broad.mit.edu	37	3	48636573	48636573	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr3:48636573C>T	uc003cub.1	-	13	1476	c.1431G>A	c.(1429-1431)TGG>TGA	p.W477*	UQCRC1_uc003cua.1_Nonsense_Mutation_p.W362*|UQCRC1_uc003cuc.1_Nonsense_Mutation_p.W478*|UQCRC1_uc003cud.1_Nonsense_Mutation_p.W476*	NM_003365	NP_003356	P31930	QCR1_HUMAN	ubiquinol-cytochrome c reductase core protein I	477					aerobic respiration|proteolysis		metalloendopeptidase activity|ubiquinol-cytochrome-c reductase activity|zinc ion binding				0				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)	Atovaquone(DB01117)	AGAAGCGCAGCCAGAACATGC	0.627												
CELSR3	1951	broad.mit.edu	37	3	48677916	48677916	+	Silent	SNP	T	T	G			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr3:48677916T>G	uc003cul.2	-	34	9383	c.9102A>C	c.(9100-9102)GCA>GCC	p.A3034A	CELSR3_uc003cuf.1_Silent_p.A3132A|CELSR3_uc010hkf.2_Silent_p.A324A|CELSR3_uc010hkg.2_Silent_p.A1017A	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN	cadherin EGF LAG seven-pass G-type receptor 3	3034	Cytoplasmic (Potential).				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			ovary(5)|upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)	11				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CCAAGGTGGCTGCACGGCACC	0.632												
AMT	275	broad.mit.edu	37	3	49459855	49459855	+	Missense_Mutation	SNP	C	C	T	rs150649086		TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr3:49459855C>T	uc003cww.2	-	1	158	c.29G>A	c.(28-30)CGT>CAT	p.R10H	AMT_uc011bcn.1_5'UTR|AMT_uc003cwx.2_Missense_Mutation_p.R10H|AMT_uc011bco.1_Missense_Mutation_p.R10H|AMT_uc003cwy.2_5'UTR|AMT_uc011bcp.1_5'UTR|AMT_uc011bcq.1_Missense_Mutation_p.R10H|NICN1_uc003cwz.1_3'UTR	NM_000481	NP_000472	P48728	GCST_HUMAN	aminomethyltransferase isoform 1 precursor	10					glycine catabolic process	mitochondrion	aminomethyltransferase activity|transaminase activity			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	NADH(DB00157)|Tetrahydrofolic acid(DB00116)	AAAGCCCAGACGGGCCACCAC	0.642												
BSN	8927	broad.mit.edu	37	3	49700719	49700719	+	Missense_Mutation	SNP	C	C	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr3:49700719C>A	uc003cxe.3	+	7	11242	c.11128C>A	c.(11128-11130)CGT>AGT	p.R3710S		NM_003458	NP_003449	Q9UPA5	BSN_HUMAN	bassoon protein	3710					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			ovary(5)|pancreas(1)|central_nervous_system(1)|skin(1)	8				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		ACAGCCATCCCGTGCTTCATC	0.632												
RNF123	63891	broad.mit.edu	37	3	49736480	49736480	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr3:49736480G>A	uc003cxh.2	+	10	792	c.706G>A	c.(706-708)GCC>ACC	p.A236T	RNF123_uc010hky.1_5'Flank|RNF123_uc003cxi.2_5'Flank	NM_022064	NP_071347	Q5XPI4	RN123_HUMAN	ring finger protein 123	236	B30.2/SPRY.					cytoplasm	ligase activity|protein binding|zinc ion binding			kidney(3)|ovary(1)|lung(1)|breast(1)|skin(1)	7				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255)		CTACTTCCCAGCCATCAGCCT	0.567												
C3orf54	389119	broad.mit.edu	37	3	49842011	49842011	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr3:49842011G>A	uc003cxq.1	+	2	588	c.455G>A	c.(454-456)CGG>CAG	p.R152Q		NM_203370	NP_976248	Q96EL1	CC054_HUMAN	hypothetical protein LOC389119	150											0				BRCA - Breast invasive adenocarcinoma(193;3.55e-06)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		CACCATCCACGGCCCAAGTCC	0.662												
GNAI2	2771	broad.mit.edu	37	3	50293689	50293689	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr3:50293689G>A	uc003cyq.1	+	5	651	c.530G>A	c.(529-531)CGG>CAG	p.R177Q	GNAI2_uc003cyo.1_Missense_Mutation_p.R161Q|GNAI2_uc003cyp.1_Missense_Mutation_p.R161Q|GNAI2_uc010hlg.1_Missense_Mutation_p.R96Q|GNAI2_uc011bdn.1_Missense_Mutation_p.R140Q|GNAI2_uc003cyr.1_Missense_Mutation_p.R96Q	NM_002070	NP_002061	P04899	GNAI2_HUMAN	guanine nucleotide binding protein (G protein),	177	GTP (By similarity).				adenosine receptor signaling pathway|cell cycle|cell division|gamma-aminobutyric acid signaling pathway|inhibition of adenylate cyclase activity by G-protein signaling pathway|negative regulation of calcium ion transport via voltage-gated calcium channel activity|platelet activation|response to nutrient|synaptic transmission	centrosome|heterotrimeric G-protein complex|midbody	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity			ovary(1)|central_nervous_system(1)|skin(1)	3				BRCA - Breast invasive adenocarcinoma(193;0.000288)|KIRC - Kidney renal clear cell carcinoma(197;0.00571)|Kidney(197;0.00651)		GATGTGCTACGGACCCGCGTA	0.597												
C3orf45	132228	broad.mit.edu	37	3	50316562	50316562	+	Silent	SNP	C	C	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr3:50316562C>T	uc003cyz.2	+	1	45	c.18C>T	c.(16-18)CCC>CCT	p.P6P		NM_153215	NP_694947	Q8N112	CC045_HUMAN	hypothetical protein LOC132228	6						integral to membrane				ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		CATTGGCCCCCGACTGCCCAC	0.602												
MAPKAPK3	7867	broad.mit.edu	37	3	50683670	50683670	+	Silent	SNP	T	T	C			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr3:50683670T>C	uc003day.1	+	10	1400	c.804T>C	c.(802-804)CCT>CCC	p.P268P	MAPKAPK3_uc003daz.1_Silent_p.P268P|MAPKAPK3_uc003dba.1_Silent_p.P268P|MAPKAPK3_uc010hlr.1_Silent_p.P268P	NM_004635	NP_004626	Q16644	MAPK3_HUMAN	mitogen-activated protein kinase-activated	268	Protein kinase.				activation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase kinase activity|protein serine/threonine kinase activity			ovary(1)|central_nervous_system(1)	2				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.0188)|Kidney(197;0.0223)		TCCCCAATCCTGAGTGGTCAG	0.547												
RBM15B	29890	broad.mit.edu	37	3	51430939	51430939	+	Silent	SNP	C	C	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr3:51430939C>T	uc003dbd.2	+	1	2209	c.2109C>T	c.(2107-2109)CAC>CAT	p.H703H		NM_013286	NP_037418	Q8NDT2	RB15B_HUMAN	RNA binding motif protein 15B	703					interspecies interaction between organisms|mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent	nucleoplasm	nucleotide binding|protein binding|RNA binding				0				BRCA - Breast invasive adenocarcinoma(193;0.000224)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		AGCCAAAACACGAGACCAAAA	0.542												
RAD54L2	23132	broad.mit.edu	37	3	51696633	51696633	+	Missense_Mutation	SNP	G	G	A	rs146832677	byFrequency	TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr3:51696633G>A	uc011bdt.1	+	22	3726	c.3601G>A	c.(3601-3603)GCC>ACC	p.A1201T	RAD54L2_uc003dbh.2_Missense_Mutation_p.A790T|RAD54L2_uc011bdu.1_Missense_Mutation_p.A895T|RAD54L2_uc003dbj.2_Missense_Mutation_p.A527T	NM_015106	NP_055921	Q9Y4B4	ARIP4_HUMAN	RAD54-like 2	1201						nucleus	ATP binding|DNA binding|helicase activity			ovary(3)	3				BRCA - Breast invasive adenocarcinoma(193;0.000102)|Kidney(197;0.000758)|KIRC - Kidney renal clear cell carcinoma(197;0.000896)		CACCAATGCCGCCCTGCCTGG	0.607												
GRM2	2912	broad.mit.edu	37	3	51751698	51751698	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr3:51751698G>A	uc010hlv.2	+	5	2649	c.2410G>A	c.(2410-2412)GTG>ATG	p.V804M	GRM2_uc003dbo.3_Missense_Mutation_p.V186M|GRM2_uc010hlu.2_RNA	NM_000839	NP_000830	Q14416	GRM2_HUMAN	glutamate receptor, metabotropic 2 isoform a	804	Helical; Name=7; (Potential).				synaptic transmission	integral to plasma membrane				lung(1)	1				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Acamprosate(DB00659)|Nicotine(DB00184)	CAGCGGCTCCGTGGTGCTTGG	0.627												
RRP9	9136	broad.mit.edu	37	3	51970485	51970485	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr3:51970485C>T	uc003dbw.1	-	7	643	c.604G>A	c.(604-606)GTC>ATC	p.V202I		NM_004704	NP_004695	O43818	U3IP2_HUMAN	RNA, U3 small nucleolar interacting protein 2	202	WD 2.				rRNA processing	nucleolus|small nuclear ribonucleoprotein complex|small nucleolar ribonucleoprotein complex	RNA binding			breast(2)|ovary(1)	3				BRCA - Breast invasive adenocarcinoma(193;8.04e-05)|Kidney(197;0.000553)|KIRC - Kidney renal clear cell carcinoma(197;0.000724)		ATGCAGAGGACGTGGCTGCTG	0.642												
PARP3	10039	broad.mit.edu	37	3	51980202	51980202	+	Silent	SNP	C	C	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr3:51980202C>T	uc003dby.2	+	9	1490	c.1119C>T	c.(1117-1119)CAC>CAT	p.H373H	PARP3_uc003dbz.2_Silent_p.H380H	NM_005485	NP_005476	Q9Y6F1	PARP3_HUMAN	poly (ADP-ribose) polymerase family, member 3	373	PARP catalytic.				DNA repair|protein ADP-ribosylation	centriole|nucleus	NAD+ ADP-ribosyltransferase activity|protein binding			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000541)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		TCCAGGCCCACTCCAAACTGG	0.587												
GPR62	118442	broad.mit.edu	37	3	51989789	51989789	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr3:51989789C>T	uc003dca.3	+	1	460	c.121C>T	c.(121-123)CGC>TGC	p.R41C		NM_080865	NP_543141	Q9BZJ7	GPR62_HUMAN	G protein-coupled receptor 62	41	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		CGTGGTGCTGCGCACGCCGGG	0.711												
TLR9	54106	broad.mit.edu	37	3	52255388	52255388	+	Missense_Mutation	SNP	G	G	A	rs142806370		TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr3:52255388G>A	uc003dda.1	-	2	3578	c.2944C>T	c.(2944-2946)CGG>TGG	p.R982W	TLR9_uc003ddb.2_Missense_Mutation_p.R1079W	NM_017442	NP_059138	Q9NR96	TLR9_HUMAN	toll-like receptor 9 isoform A precursor	982	TIR.|Cytoplasmic (Potential).				defense response to bacterium|fibroblast growth factor receptor signaling pathway|I-kappaB phosphorylation|inflammatory response|innate immune response|insulin receptor signaling pathway|maintenance of gastrointestinal epithelium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|response to molecule of bacterial origin	apical plasma membrane|basolateral plasma membrane|early phagosome|endoplasmic reticulum membrane|endosome membrane|extracellular region|integral to membrane|lysosome	interleukin-1 receptor binding|siRNA binding|transmembrane receptor activity			large_intestine(2)|skin(2)	4				BRCA - Breast invasive adenocarcinoma(193;2.41e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Chloroquine(DB00608)	TGGCGCAGCCGCACGTAGCGG	0.716												
PHF7	51533	broad.mit.edu	37	3	52453868	52453868	+	Missense_Mutation	SNP	C	C	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr3:52453868C>A	uc003ddy.2	+	5	1012	c.206C>A	c.(205-207)CCT>CAT	p.P69H	PHF7_uc003ddz.2_Missense_Mutation_p.P69H	NM_016483	NP_057567	Q9BWX1	PHF7_HUMAN	PHD finger protein 7 isoform 1	69						nucleus	zinc ion binding			breast(1)	1				BRCA - Breast invasive adenocarcinoma(193;1.71e-05)|Kidney(197;0.00178)|KIRC - Kidney renal clear cell carcinoma(197;0.00201)|OV - Ovarian serous cystadenocarcinoma(275;0.0275)		AGTAAGCTGCCTCAGAGGGGC	0.498												
GNL3	26354	broad.mit.edu	37	3	52723158	52723158	+	Silent	SNP	T	T	G			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr3:52723158T>G	uc003dfd.2	+	6	650	c.477T>G	c.(475-477)CCT>CCG	p.P159P	GNL3_uc011beh.1_RNA|GNL3_uc003dfe.2_Silent_p.P147P|GNL3_uc003dff.2_Silent_p.P147P|SNORD19_uc003dfg.1_5'Flank|SNORD19B_uc010hml.1_5'Flank	NM_014366	NP_055181	Q9BVP2	GNL3_HUMAN	guanine nucleotide binding protein-like 3	159					regulation of cell proliferation	nucleolus	GTP binding|protein binding				0				BRCA - Breast invasive adenocarcinoma(193;6.75e-05)|Kidney(197;0.000611)|KIRC - Kidney renal clear cell carcinoma(197;0.000773)|OV - Ovarian serous cystadenocarcinoma(275;0.048)		GCAGATGTCCTCAGGTAGAAG	0.428												
GLT8D1	55830	broad.mit.edu	37	3	52730046	52730046	+	Silent	SNP	A	A	G			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr3:52730046A>G	uc003dfi.3	-	7	682	c.543T>C	c.(541-543)CTT>CTC	p.L181L	GLT8D1_uc003dfj.2_Silent_p.L181L|GLT8D1_uc003dfk.2_Silent_p.L181L|GLT8D1_uc003dfl.2_Silent_p.L181L|GLT8D1_uc003dfm.2_Silent_p.L181L|GLT8D1_uc003dfn.2_Silent_p.L181L|GLT8D1_uc003dfo.1_Silent_p.L181L	NM_152932	NP_690909	Q68CQ7	GL8D1_HUMAN	glycosyltransferase 8 domain containing 1	181	Lumenal (Potential).					integral to membrane|mitochondrion	transferase activity, transferring glycosyl groups				0				BRCA - Breast invasive adenocarcinoma(193;6.78e-05)|Kidney(197;0.000618)|KIRC - Kidney renal clear cell carcinoma(197;0.000779)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		TGTAAAGGGCAAGAATATCAC	0.428												
NEK4	6787	broad.mit.edu	37	3	52786250	52786250	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr3:52786250T>C	uc003dfq.3	-	7	1255	c.1066A>G	c.(1066-1068)ACC>GCC	p.T356A	NEK4_uc011bej.1_Missense_Mutation_p.T267A|NEK4_uc003dfr.2_Missense_Mutation_p.T356A	NM_003157	NP_003148	P51957	NEK4_HUMAN	NIMA-related kinase 4	356					cell division|mitosis	nucleus	ATP binding|metal ion binding|protein serine/threonine kinase activity			large_intestine(1)	1				BRCA - Breast invasive adenocarcinoma(193;7.44e-05)|Kidney(197;0.000711)|KIRC - Kidney renal clear cell carcinoma(197;0.00086)|OV - Ovarian serous cystadenocarcinoma(275;0.0513)		AGTTCTGTGGTATTGCTCAAG	0.478												
CACNA1D	776	broad.mit.edu	37	3	53806910	53806910	+	Silent	SNP	G	G	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr3:53806910G>A	uc003dgv.3	+	33	4258	c.4095G>A	c.(4093-4095)GCG>GCA	p.A1365A	CACNA1D_uc003dgu.3_Silent_p.A1385A|CACNA1D_uc003dgy.3_Silent_p.A1350A|CACNA1D_uc003dgw.3_Silent_p.A1032A|CACNA1D_uc003dgx.1_Silent_p.A541A	NM_001128840	NP_001122312	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type,	1365	IV.|Helical; Name=S5 of repeat IV; (Potential).				axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			ovary(6)|upper_aerodigestive_tract(2)|liver(1)|central_nervous_system(1)|skin(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	TCATCTATGCGGTCATTGGCA	0.582												
WNT5A	7474	broad.mit.edu	37	3	55508419	55508419	+	Silent	SNP	G	G	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr3:55508419G>T	uc003dhn.2	-	4	948	c.630C>A	c.(628-630)TCC>TCA	p.S210S	WNT5A_uc003dhm.2_Silent_p.S195S|WNT5A_uc010hmw.2_Silent_p.S195S|WNT5A_uc010hmx.2_Silent_p.S121S	NM_003392	NP_003383	P41221	WNT5A_HUMAN	wingless-type MMTV integration site family,	210					activation of JUN kinase activity|activation of protein kinase B activity|axon guidance|cartilage development|cellular protein localization|cellular response to calcium ion|cellular response to interferon-gamma|cellular response to lipopolysaccharide|cellular response to retinoic acid|cellular response to transforming growth factor beta stimulus|cervix development|cochlea morphogenesis|convergent extension involved in organogenesis|dopaminergic neuron differentiation|dorsal/ventral axis specification|embryonic digit morphogenesis|embryonic skeletal system development|epithelial cell proliferation involved in mammary gland duct elongation|epithelial to mesenchymal transition|face development|genitalia development|heart looping|hemopoietic stem cell proliferation|keratinocyte differentiation|lateral sprouting involved in mammary gland duct morphogenesis|lens development in camera-type eye|male gonad development|mammary gland branching involved in thelarche|negative regulation of apoptosis|negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fat cell differentiation|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of mesenchymal cell proliferation|negative regulation of transcription, DNA-dependent|neural tube closure|olfactory bulb interneuron development|optic cup formation involved in camera-type eye development|palate development|positive regulation of angiogenesis|positive regulation of cartilage development|positive regulation of cGMP metabolic process|positive regulation of chemokine biosynthetic process|positive regulation of cytokine secretion involved in immune response|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of fibroblast proliferation|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of macrophage activation|positive regulation of macrophage cytokine production|positive regulation of mesenchymal cell proliferation|positive regulation of neuron projection development|positive regulation of NF-kappaB transcription factor activity|positive regulation of ossification|positive regulation of protein catabolic process|positive regulation of protein kinase C signaling cascade|positive regulation of T cell chemotaxis|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|primitive streak formation|regulation of branching involved in mammary gland duct morphogenesis|somitogenesis|tail morphogenesis|type B pancreatic cell development|urinary bladder development|uterus development|vagina development|Wnt receptor signaling pathway, calcium modulating pathway|wound healing	extracellular space|membrane fraction|plasma membrane|proteinaceous extracellular matrix	frizzled binding|frizzled-2 binding|receptor tyrosine kinase-like orphan receptor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding				0				KIRC - Kidney renal clear cell carcinoma(284;0.00377)|Kidney(284;0.00408)|OV - Ovarian serous cystadenocarcinoma(275;0.204)		CACTCTCGTAGGAGCCCTTGG	0.667												
KCTD6	200845	broad.mit.edu	37	3	58486884	58486884	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr3:58486884C>T	uc003dkj.3	+	3	356	c.239C>T	c.(238-240)CCG>CTG	p.P80L	KCTD6_uc003dki.3_Missense_Mutation_p.P80L|KCTD6_uc003dkk.3_Missense_Mutation_p.P80L	NM_001128214	NP_001121686	Q8NC69	KCTD6_HUMAN	potassium channel tetramerisation domain	80	BTB.					voltage-gated potassium channel complex	voltage-gated potassium channel activity			skin(1)	1				BRCA - Breast invasive adenocarcinoma(55;0.000177)|Kidney(10;0.00229)|KIRC - Kidney renal clear cell carcinoma(10;0.00258)|OV - Ovarian serous cystadenocarcinoma(275;0.148)		TTGACCTTACCGTTGGATTTT	0.418												
PRICKLE2	166336	broad.mit.edu	37	3	64184458	64184458	+	Splice_Site	SNP	A	A	G			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr3:64184458A>G	uc003dmf.2	-	2	730	c.144_splice	c.e2+1	p.Q48_splice		NM_198859	NP_942559	Q7Z3G6	PRIC2_HUMAN	prickle-like 2							cytoplasm|nuclear membrane	zinc ion binding			ovary(4)|skin(1)	5		Lung NSC(201;0.136)		BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497)		CCAGAATGGTACCTGTTCAGG	0.502												
LRIG1	26018	broad.mit.edu	37	3	66455662	66455662	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr3:66455662T>C	uc003dmx.2	-	9	1134	c.1120A>G	c.(1120-1122)ACG>GCG	p.T374A	LRIG1_uc011bfu.1_5'Flank|LRIG1_uc003dmw.2_Missense_Mutation_p.T40A|LRIG1_uc010hnz.2_Missense_Mutation_p.T114A|LRIG1_uc010hoa.2_Missense_Mutation_p.T374A	NM_015541	NP_056356	Q96JA1	LRIG1_HUMAN	leucine-rich repeats and immunoglobulin-like	374	Extracellular (Potential).|LRR 13.					integral to membrane				skin(3)|ovary(2)	5		Lung NSC(201;0.0101)		BRCA - Breast invasive adenocarcinoma(55;0.00047)		GCGCCGCTCGTGTCCTCTATT	0.612												
CNTN3	5067	broad.mit.edu	37	3	74350697	74350697	+	Silent	SNP	C	C	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr3:74350697C>T	uc003dpm.1	-	15	2027	c.1947G>A	c.(1945-1947)GTG>GTA	p.V649V		NM_020872	NP_065923	Q9P232	CNTN3_HUMAN	contactin 3 precursor	649	Fibronectin type-III 1.				cell adhesion	anchored to membrane|plasma membrane	protein binding			breast(3)|ovary(1)|skin(1)	5		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		TGACCTCAGGCACTACAAAGG	0.438												
OR5H1	26341	broad.mit.edu	37	3	97852151	97852151	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr3:97852151G>A	uc011bgt.1	+	1	610	c.610G>A	c.(610-612)GGT>AGT	p.G204S		NM_001005338	NP_001005338	A6NKK0	OR5H1_HUMAN	olfactory receptor, family 5, subfamily H,	204	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|breast(1)	2						TATTTTCTCAGGTTCAATTCA	0.313												
GPR128	84873	broad.mit.edu	37	3	100413713	100413713	+	Silent	SNP	G	G	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr3:100413713G>A	uc003duc.2	+	16	2530	c.2262G>A	c.(2260-2262)AGG>AGA	p.R754R	GPR128_uc011bhc.1_Silent_p.R455R|GPR128_uc003dud.2_Silent_p.R277R	NM_032787	NP_116176	Q96K78	GP128_HUMAN	G protein-coupled receptor 128 precursor	754	Cytoplasmic (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(3)|skin(1)	4						CGCGGCCGAGGCTGCGTGTAA	0.458												
SENP7	57337	broad.mit.edu	37	3	101136469	101136469	+	Silent	SNP	T	T	C			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr3:101136469T>C	uc003dut.2	-	5	561	c.450A>G	c.(448-450)GAA>GAG	p.E150E	SENP7_uc003duu.2_Silent_p.E150E|SENP7_uc003duv.2_Silent_p.E117E|SENP7_uc003duw.2_Intron|SENP7_uc003dux.2_Intron	NM_020654	NP_065705	Q9BQF6	SENP7_HUMAN	sentrin/SUMO-specific protease 7 isoform 1	150					proteolysis	nucleus	cysteine-type peptidase activity			ovary(3)|lung(2)	5						GGCGAAGAGGTTCTAATTTTT	0.368												
CEP97	79598	broad.mit.edu	37	3	101481356	101481356	+	Silent	SNP	T	T	C			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr3:101481356T>C	uc003dvk.1	+	10	1872	c.1845T>C	c.(1843-1845)CGT>CGC	p.R615R	CEP97_uc011bhf.1_Silent_p.R556R|CEP97_uc003dvl.1_Silent_p.R311R|CEP97_uc003dvm.1_Silent_p.R453R	NM_024548	NP_078824	Q8IW35	CEP97_HUMAN	centrosomal protein 97kDa	615	CEP110 binding.					centrosome|nucleus	protein binding			ovary(2)	2						ATGAAGAACGTATTAAAAAAT	0.333												
ALCAM	214	broad.mit.edu	37	3	105252520	105252520	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr3:105252520A>G	uc003dvx.2	+	5	1073	c.533A>G	c.(532-534)CAT>CGT	p.H178R	ALCAM_uc003dvw.1_Missense_Mutation_p.H178R|ALCAM_uc003dvy.2_Missense_Mutation_p.H178R|ALCAM_uc011bhh.1_Missense_Mutation_p.H127R|ALCAM_uc010hpp.2_5'UTR	NM_001627	NP_001618	Q13740	CD166_HUMAN	activated leukocyte cell adhesion molecule	178	Extracellular (Potential).|Ig-like V-type 2.				cell adhesion|signal transduction	integral to membrane	receptor binding			ovary(2)|breast(1)	3						AAAGTGCTACATCCCCTTGAA	0.413												
CBLB	868	broad.mit.edu	37	3	105470339	105470339	+	Silent	SNP	A	A	G			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr3:105470339A>G	uc003dwc.2	-	5	1012	c.690T>C	c.(688-690)GTT>GTC	p.V230V	CBLB_uc011bhi.1_Silent_p.V252V|CBLB_uc003dwd.1_Silent_p.V230V|CBLB_uc003dwe.1_Silent_p.V230V|CBLB_uc011bhj.1_RNA	NM_170662	NP_733762	Q13191	CBLB_HUMAN	Cas-Br-M (murine) ecotropic retroviral	230	Potential.|Cbl-PTB.|EF-hand-like.				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						CAAATTCAAAAACTGAAATGT	0.318			Mis S		AML							
HHLA2	11148	broad.mit.edu	37	3	108072520	108072520	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr3:108072520C>T	uc003dwy.3	+	4	478	c.311C>T	c.(310-312)GCG>GTG	p.A104V	HHLA2_uc011bhl.1_Intron|HHLA2_uc010hpu.2_Missense_Mutation_p.A104V|HHLA2_uc003dwz.2_Missense_Mutation_p.A104V	NM_007072	NP_009003	Q9UM44	HHLA2_HUMAN	HERV-H LTR-associating 2 precursor	104	Ig-like V-type 1.					integral to membrane				ovary(1)	1						AATGGGAATGCGTCGCTATTT	0.403												
PVRL3	25945	broad.mit.edu	37	3	110852716	110852716	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr3:110852716G>A	uc003dxt.1	+	6	1304	c.1304G>A	c.(1303-1305)CGT>CAT	p.R435H	PVRL3_uc003dxu.1_Intron	NM_015480	NP_056295	Q9NQS3	PVRL3_HUMAN	poliovirus receptor-related 3 precursor	435	Cytoplasmic (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane	cell adhesion molecule binding|protein homodimerization activity	p.R435C(1)		upper_aerodigestive_tract(2)	2						CGGACGTTTCGTGGAGACTAC	0.418												
BOC	91653	broad.mit.edu	37	3	112991451	112991451	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr3:112991451A>G	uc003dzx.2	+	7	1483	c.862A>G	c.(862-864)ACC>GCC	p.T288A	BOC_uc003dzy.2_Missense_Mutation_p.T288A|BOC_uc003dzz.2_Missense_Mutation_p.T288A|BOC_uc003eab.2_5'UTR	NM_033254	NP_150279	Q9BWV1	BOC_HUMAN	brother of CDO precursor	288	Ig-like C2-type 3.|Extracellular (Potential).				cell adhesion|muscle cell differentiation|positive regulation of myoblast differentiation	integral to membrane|plasma membrane	protein binding			ovary(3)|breast(1)|central_nervous_system(1)|pancreas(1)	6			Epithelial(53;0.227)			CCTCATCGACACCACCAGCGA	0.627												
CCDC52	152185	broad.mit.edu	37	3	113179491	113179491	+	Missense_Mutation	SNP	T	T	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr3:113179491T>A	uc003eag.3	-	12	1699	c.1408A>T	c.(1408-1410)ACA>TCA	p.T470S	CCDC52_uc003eaf.3_RNA|CCDC52_uc003eah.1_Missense_Mutation_p.T366S	NM_144718	NP_653319	Q8N0Z3	SPICE_HUMAN	coiled-coil domain containing 52	470					cell division|mitosis	centriole|spindle	protein binding				0						CTTCTACCTGTGGCTCCGCTT	0.413												
UPK1B	7348	broad.mit.edu	37	3	118909928	118909928	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr3:118909928A>G	uc003ecc.2	+	5	534	c.445A>G	c.(445-447)ACC>GCC	p.T149A	UPK1B_uc011bix.1_Missense_Mutation_p.T69A|UPK1B_uc003ecd.2_Missense_Mutation_p.T141A	NM_006952	NP_008883	O75841	UPK1B_HUMAN	uroplakin 1B	149	Extracellular (Potential).				epithelial cell differentiation	integral to membrane	structural molecule activity				0				GBM - Glioblastoma multiforme(114;0.222)		AGTCACCAAAACCTGGGACAG	0.493												
NR1I2	8856	broad.mit.edu	37	3	119531741	119531741	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr3:119531741T>C	uc003edj.2	+	5	2567	c.728T>C	c.(727-729)ATG>ACG	p.M243T	NR1I2_uc003edi.2_Missense_Mutation_p.M206T|NR1I2_uc003edk.2_Missense_Mutation_p.M282T|NR1I2_uc003edl.2_Missense_Mutation_p.M131T	NM_003889	NP_003880	O75469	NR1I2_HUMAN	nuclear receptor subfamily 1, group I, member 2	243	Ligand-binding.				drug export|exogenous drug catabolic process|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|steroid metabolic process|xenobiotic metabolic process|xenobiotic transport	nucleoplasm	drug binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding			ovary(2)	2				GBM - Glioblastoma multiforme(114;0.175)	Estradiol(DB00783)|Ethinyl Estradiol(DB00977)|Rifampin(DB01045)|Vitamin E(DB00163)	CTGCCCCACATGGCTGACATG	0.547												
POLQ	10721	broad.mit.edu	37	3	121206385	121206385	+	Missense_Mutation	SNP	G	G	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr3:121206385G>T	uc003eee.3	-	16	5522	c.5393C>A	c.(5392-5394)CCT>CAT	p.P1798H	POLQ_uc003eed.2_Missense_Mutation_p.P970H	NM_199420	NP_955452	O75417	DPOLQ_HUMAN	DNA polymerase theta	1798					DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity			ovary(4)|breast(3)|lung(2)|upper_aerodigestive_tract(1)|skin(1)	11				GBM - Glioblastoma multiforme(114;0.0915)		GTCACTAATAGGGCTGTTGTC	0.383								DNA_polymerases_(catalytic_subunits)				
POLQ	10721	broad.mit.edu	37	3	121260235	121260235	+	Silent	SNP	G	G	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr3:121260235G>T	uc003eee.3	-	3	564	c.435C>A	c.(433-435)CCC>CCA	p.P145P		NM_199420	NP_955452	O75417	DPOLQ_HUMAN	DNA polymerase theta	145	Helicase ATP-binding.				DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity			ovary(4)|breast(3)|lung(2)|upper_aerodigestive_tract(1)|skin(1)	11				GBM - Glioblastoma multiforme(114;0.0915)		CAGAAACAAAGGGAAGAATAA	0.373								DNA_polymerases_(catalytic_subunits)				
KPNA1	3836	broad.mit.edu	37	3	122146494	122146494	+	Silent	SNP	T	T	C			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr3:122146494T>C	uc003efd.1	-	13	1356	c.1320A>G	c.(1318-1320)GTA>GTG	p.V440V	KPNA1_uc003efb.1_Silent_p.V239V|KPNA1_uc003efc.1_Silent_p.V239V|KPNA1_uc011bjr.1_Silent_p.V239V|KPNA1_uc010hrh.2_Silent_p.V239V|KPNA1_uc003efe.2_Silent_p.V440V	NM_002264	NP_002255	P52294	IMA1_HUMAN	karyopherin alpha 1	440	ARM 9.				DNA fragmentation involved in apoptotic nuclear change|NLS-bearing substrate import into nucleus|regulation of DNA recombination|viral genome transport in host cell|viral infectious cycle	cytosol|nuclear pore|nucleoplasm	nuclear localization sequence binding|protein binding|protein transporter activity				0				GBM - Glioblastoma multiforme(114;0.0898)		GGGCAACCTGTACAATCTTAG	0.428												
ITGB5	3693	broad.mit.edu	37	3	124492710	124492710	+	Silent	SNP	G	G	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr3:124492710G>A	uc003eho.2	-	11	2040	c.1743C>T	c.(1741-1743)ATC>ATT	p.I581I	ITGB5_uc010hrx.2_RNA|ITGB5_uc003ehp.1_RNA	NM_002213	NP_002204	P18084	ITB5_HUMAN	integrin, beta 5 precursor	581	III.|Extracellular (Potential).|Cysteine-rich tandem repeats.				cell-matrix adhesion|integrin-mediated signaling pathway|multicellular organismal development|muscle contraction	integrin complex	receptor activity			skin(2)	2				GBM - Glioblastoma multiforme(114;0.163)		AGTTGTCCCCGATGTAACCTG	0.527												
CCDC37	348807	broad.mit.edu	37	3	126137587	126137587	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr3:126137587A>G	uc003eiu.1	+	7	719	c.620A>G	c.(619-621)AAT>AGT	p.N207S	CCDC37_uc010hsg.1_Missense_Mutation_p.N208S	NM_182628	NP_872434	Q494V2	CCD37_HUMAN	coiled-coil domain containing 37	207										ovary(1)|skin(1)	2				GBM - Glioblastoma multiforme(114;0.166)		GTCAGGGAGAATGACTGCAGC	0.667												
C3orf22	152065	broad.mit.edu	37	3	126268739	126268739	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr3:126268739G>A	uc003ejb.2	-	4	727	c.398C>T	c.(397-399)GCG>GTG	p.A133V		NM_152533	NP_689746	Q8N5N4	CC022_HUMAN	hypothetical protein LOC152065	133											0				GBM - Glioblastoma multiforme(114;0.147)		CAGCCCTGCCGCCTTGCTGGT	0.627												
MCM2	4171	broad.mit.edu	37	3	127339714	127339714	+	Missense_Mutation	SNP	C	C	G			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr3:127339714C>G	uc003ejp.2	+	14	2496	c.2439C>G	c.(2437-2439)AGC>AGG	p.S813R	MCM2_uc011bkm.1_Missense_Mutation_p.S683R|MCM2_uc010hsl.2_RNA|MCM2_uc011bkn.1_Missense_Mutation_p.S766R	NM_004526	NP_004517	P49736	MCM2_HUMAN	minichromosome maintenance complex component 2	813					cell cycle checkpoint|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	chromatin|MCM complex	ATP binding|helicase activity|metal ion binding			ovary(3)|skin(1)	4						TCATGCGCAGCATGCGCAAGG	0.597												
PIK3R4	30849	broad.mit.edu	37	3	130422668	130422668	+	Silent	SNP	A	A	G			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr3:130422668A>G	uc003enj.2	-	13	3578	c.2997T>C	c.(2995-2997)ATT>ATC	p.I999I		NM_014602	NP_055417	Q99570	PI3R4_HUMAN	phosphoinositide-3-kinase, regulatory subunit 4	999	WD 1.				fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway	cytosol	ATP binding|protein binding|protein serine/threonine kinase activity			ovary(3)|lung(2)|breast(2)|skin(2)|stomach(1)|central_nervous_system(1)|kidney(1)	12						CAGAGACTCTAATTCGATTCA	0.423												
PIK3R4	30849	broad.mit.edu	37	3	130463961	130463961	+	Silent	SNP	A	A	G			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr3:130463961A>G	uc003enj.2	-	2	683	c.102T>C	c.(100-102)AGT>AGC	p.S34S		NM_014602	NP_055417	Q99570	PI3R4_HUMAN	phosphoinositide-3-kinase, regulatory subunit 4	34	ATP (By similarity).|Protein kinase.				fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway	cytosol	ATP binding|protein binding|protein serine/threonine kinase activity			ovary(3)|lung(2)|breast(2)|skin(2)|stomach(1)|central_nervous_system(1)|kidney(1)	12						AAAACCGAGTACTCCCCAGGC	0.438												
ATP2C1	27032	broad.mit.edu	37	3	130717188	130717188	+	Silent	SNP	C	C	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr3:130717188C>T	uc003enl.2	+	26	2664	c.2442C>T	c.(2440-2442)TGC>TGT	p.C814C	ATP2C1_uc011blg.1_Silent_p.C848C|ATP2C1_uc011blh.1_Silent_p.C809C|ATP2C1_uc011bli.1_Silent_p.C848C|ATP2C1_uc003enk.2_Silent_p.C798C|ATP2C1_uc003enm.2_Silent_p.C814C|ATP2C1_uc003enn.2_Silent_p.C798C|ATP2C1_uc003eno.2_Silent_p.C814C|ATP2C1_uc003enp.2_Silent_p.C814C|ATP2C1_uc003enq.2_Silent_p.C814C|ATP2C1_uc003enr.2_Silent_p.C814C|ATP2C1_uc003ens.2_Silent_p.C814C|ATP2C1_uc003ent.2_Silent_p.C814C|ATP2C1_uc003enu.2_Silent_p.C492C	NM_014382	NP_055197	P98194	AT2C1_HUMAN	calcium-transporting ATPase 2C1 isoform 1a	814	Helical; Name=8; (By similarity).				actin cytoskeleton reorganization|ATP biosynthetic process|calcium-dependent cell-cell adhesion|cellular calcium ion homeostasis|cellular manganese ion homeostasis|epidermis development|Golgi calcium ion homeostasis|Golgi calcium ion transport|positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi apparatus|Golgi membrane|integral to membrane|trans-Golgi network	ATP binding|ATP binding|calcium ion binding|calcium-transporting ATPase activity|manganese ion binding|manganese-transporting ATPase activity|metal ion binding|signal transducer activity			skin(1)	1					Arsenic trioxide(DB01169)|Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Miconazole(DB01110)|Sevoflurane(DB01236)	CCTTCACATGCTTTGTGTTTT	0.388									Hailey-Hailey_disease			
ACPP	55	broad.mit.edu	37	3	132071668	132071668	+	Splice_Site	SNP	G	G	A	rs144833647		TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr3:132071668G>A	uc010htp.2	+	9	1058	c.968_splice	c.e9+1	p.G323_splice	ACPP_uc003eon.3_Splice_Site_p.G290_splice|ACPP_uc003eop.3_Splice_Site_p.G323_splice	NM_001099	NP_001090	P15309	PPAP_HUMAN	acid phosphatase, prostate short isoform							extracellular region|lysosomal membrane	5'-nucleotidase activity|acid phosphatase activity			ovary(1)	1						TTGAGAAGGGGTAAGTGACTA	0.428												
GRK7	131890	broad.mit.edu	37	3	141497368	141497368	+	Missense_Mutation	SNP	G	G	A	rs34429284	byFrequency	TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr3:141497368G>A	uc011bnd.1	+	1	326	c.242G>A	c.(241-243)CGC>CAC	p.R81H		NM_139209	NP_631948	Q8WTQ7	GRK7_HUMAN	G-protein-coupled receptor kinase 7 precursor	81	RGS.				visual perception	membrane	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity			lung(2)|stomach(1)|ovary(1)|skin(1)	5						CCCACGTTCCGCAAGGCGGCA	0.647												
CPA3	1359	broad.mit.edu	37	3	148597629	148597629	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr3:148597629G>A	uc003ewm.2	+	6	581	c.529G>A	c.(529-531)GCA>ACA	p.A177T		NM_001870	NP_001861	P15088	CBPA3_HUMAN	carboxypeptidase A3 precursor	177					proteolysis	stored secretory granule|transport vesicle	metallocarboxypeptidase activity|zinc ion binding			breast(1)|skin(1)	2			LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115)			TGGCATTCACGCACGAGAATG	0.413												
FAM194A	131831	broad.mit.edu	37	3	150421606	150421606	+	Missense_Mutation	SNP	T	T	A	rs140978408	byFrequency	TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr3:150421606T>A	uc003eyg.2	-	1	137	c.80A>T	c.(79-81)GAG>GTG	p.E27V	FAM194A_uc003eyh.2_5'UTR	NM_152394	NP_689607	Q7L0X2	F194A_HUMAN	hypothetical protein LOC131831	27	Glu-rich.									skin(2)|ovary(1)	3						ctcctcctcctcctctaactc	0.274												
FAM194A	131831	broad.mit.edu	37	3	150421612	150421613	+	Missense_Mutation	DNP	AA	AA	TC	rs144754399		TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr3:150421612_150421613AA>TC	uc003eyg.2	-	1	130_131	c.73_74TT>GA	c.(73-75)TTA>GAA	p.L25E	FAM194A_uc003eyh.2_5'UTR	NM_152394	NP_689607	Q7L0X2	F194A_HUMAN	hypothetical protein LOC131831	25	Glu-rich.									skin(2)|ovary(1)	3						ctcctcctctaactcctcctcT	0.297												
SIAH2	6478	broad.mit.edu	37	3	150460129	150460129	+	Silent	SNP	G	G	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr3:150460129G>A	uc003eyi.2	-	2	1401	c.774C>T	c.(772-774)GCC>GCT	p.A258A		NM_005067	NP_005058	O43255	SIAH2_HUMAN	seven in absentia homolog 2	258	SBD.				apoptosis|axon guidance|cell cycle|negative regulation of canonical Wnt receptor signaling pathway|small GTPase mediated signal transduction|ubiquitin-dependent protein catabolic process	cytosol|nucleus	transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)|lung(1)	2			LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			CAAAGTTCTCGGCTTGCTTGC	0.562												
MED12L	116931	broad.mit.edu	37	3	151129094	151129094	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr3:151129094G>A	uc003eyp.2	+	39	5872	c.5834G>A	c.(5833-5835)GGG>GAG	p.G1945E	MED12L_uc011bnz.1_Intron	NM_053002	NP_443728	Q86YW9	MD12L_HUMAN	mediator of RNA polymerase II transcription,	1945	Gln-rich.				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				ovary(4)|large_intestine(1)|central_nervous_system(1)|skin(1)	7			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			ACAATGTATGGGACACAGATG	0.512												
MME	4311	broad.mit.edu	37	3	154861271	154861271	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr3:154861271C>T	uc010hvr.1	+	13	1439	c.1228C>T	c.(1228-1230)CGT>TGT	p.R410C	MME_uc003fab.1_Missense_Mutation_p.R410C|MME_uc003fac.1_Missense_Mutation_p.R410C|MME_uc003fad.1_Missense_Mutation_p.R410C|MME_uc003fae.1_Missense_Mutation_p.R410C	NM_007289	NP_009220	P08473	NEP_HUMAN	membrane metallo-endopeptidase	410	Extracellular (Potential).				cell-cell signaling|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			ovary(2)|central_nervous_system(1)	3		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		Candoxatril(DB00616)	AACTTGGAGACGTTGTGCAAA	0.428												
ZBBX	79740	broad.mit.edu	37	3	167045770	167045770	+	Silent	SNP	A	A	G			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr3:167045770A>G	uc003fep.2	-	11	1145	c.822T>C	c.(820-822)CAT>CAC	p.H274H	ZBBX_uc011bpc.1_Silent_p.H274H|ZBBX_uc003feq.2_Silent_p.H245H	NM_024687	NP_078963	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing	274						intracellular	zinc ion binding			ovary(2)	2						TGTTGTCATCATGATTTCCGG	0.303												
PRKCI	5584	broad.mit.edu	37	3	170013723	170013723	+	Missense_Mutation	SNP	T	T	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr3:170013723T>A	uc003fgs.2	+	15	1680	c.1442T>A	c.(1441-1443)ATA>AAA	p.I481K	PRKCI_uc003fgt.2_Missense_Mutation_p.I36K	NM_002740	NP_002731	P41743	KPCI_HUMAN	protein kinase C, iota	481	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)			CAAATTCGCATACCACGTTCT	0.234												
FNDC3B	64778	broad.mit.edu	37	3	172061960	172061960	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr3:172061960A>G	uc003fhy.2	+	19	2334	c.2162A>G	c.(2161-2163)TAC>TGC	p.Y721C	FNDC3B_uc003fhz.3_Missense_Mutation_p.Y721C	NM_022763	NP_073600	Q53EP0	FND3B_HUMAN	fibronectin type III domain containing 3B	721	Fibronectin type-III 5.					endoplasmic reticulum|integral to membrane				ovary(2)|breast(1)	3	all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)	GBM - Glioblastoma multiforme(1;0.0494)		TCGGAAGTGTACCATGGCCCA	0.562												
GHSR	2693	broad.mit.edu	37	3	172165646	172165646	+	Silent	SNP	G	G	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr3:172165646G>A	uc003fib.1	-	1	558	c.558C>T	c.(556-558)CAC>CAT	p.H186H	GHSR_uc011bpv.1_Silent_p.H186H	NM_198407	NP_940799	Q92847	GHSR_HUMAN	growth hormone secretagogue receptor isoform 1a	186	Extracellular (Potential).				actin polymerization or depolymerization|adult feeding behavior|decidualization|growth hormone secretion|hormone-mediated signaling pathway|negative regulation of inflammatory response|negative regulation of interleukin-1 beta production|negative regulation of interleukin-6 biosynthetic process|negative regulation of tumor necrosis factor biosynthetic process|positive regulation of appetite|positive regulation of multicellular organism growth	cell surface|integral to membrane|membrane raft|neuron projection|plasma membrane	growth hormone secretagogue receptor activity|growth hormone-releasing hormone receptor activity			lung(3)|ovary(1)|central_nervous_system(1)	5	Ovarian(172;0.00143)|Breast(254;0.197)		Lung(28;3.93e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235)			TGCCGTTCTCGTGCTCCACCC	0.647												
PIK3CA	5290	broad.mit.edu	37	3	178952085	178952085	+	Missense_Mutation	SNP	A	A	G	rs121913279		TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr3:178952085A>G	uc003fjk.2	+	21	3297	c.3140A>G	c.(3139-3141)CAT>CGT	p.H1047R		NM_006218	NP_006209	P42336	PK3CA_HUMAN	phosphoinositide-3-kinase, catalytic, alpha	1047	PI3K/PI4K.		H -> L (in cancer).|H -> R (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; requires binding to p85 regulatory subunit to induce cellular transformation but not interaction with RAS; may mimic the conformatitonal change triggered by the interaction with RAS; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells; increases lipid kinase activity; may alter the interaction of the PI3K/ PI4K kinase domain with the cell membrane).|H -> Y (in cancer).		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.H1047R(1269)|p.H1047L(152)|p.H1047Y(31)|p.H1047Q(3)|p.H1047T(1)		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)			AATGATGCACATCATGGTGGC	0.378	H1047R(BT20_BREAST)|H1047R(NCIH1048_LUNG)|H1047R(MCAS_OVARY)|H1047R(HCC1954_BREAST)|H1047R(RKO_LARGE_INTESTINE)|H1047L(EFM19_BREAST)|H1047R(CAL33_UPPER_AERODIGESTIVE_TRACT)|H1047R(CAL29_URINARY_TRACT)|H1047R(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|H1047R(LS180_LARGE_INTESTINE)|H1047R(T47D_BREAST)|H1047R(HCT116_LARGE_INTESTINE)|H1047R(HSC2_UPPER_AERODIGESTIVE_TRACT)|H1047R(SKOV3_OVARY)|H1047R(MDAMB453_BREAST)	57	Mis		colorectal|gastric|gliobastoma|breast					HNSCC(19;0.045)|TSP Lung(28;0.18)		
GNB4	59345	broad.mit.edu	37	3	179123026	179123026	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr3:179123026C>T	uc003fjv.3	-	9	1148	c.868G>A	c.(868-870)GAT>AAT	p.D290N	GNB4_uc003fju.3_Intron	NM_021629	NP_067642	Q9HAV0	GBB4_HUMAN	guanine nucleotide-binding protein, beta-4	290	WD 6.				cellular response to glucagon stimulus|energy reserve metabolic process	plasma membrane	signal transducer activity			skin(2)	2	all_cancers(143;2.01e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.0169)|BRCA - Breast invasive adenocarcinoma(182;0.237)			TTAAAGTCATCGTAACCAGCC	0.398												
ATP11B	23200	broad.mit.edu	37	3	182583408	182583408	+	Silent	SNP	T	T	C			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr3:182583408T>C	uc003flb.2	+	13	1622	c.1365T>C	c.(1363-1365)AGT>AGC	p.S455S	ATP11B_uc003flc.2_Silent_p.S39S	NM_014616	NP_055431	Q9Y2G3	AT11B_HUMAN	ATPase, class VI, type 11B	455	Cytoplasmic (Potential).				aminophospholipid transport|ATP biosynthetic process	integral to membrane|nuclear inner membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			ovary(2)|pancreas(1)	3	all_cancers(143;9.04e-15)|Ovarian(172;0.0355)		all cancers(12;1.2e-42)|Epithelial(37;2.77e-36)|LUSC - Lung squamous cell carcinoma(7;7.58e-24)|Lung(8;4.66e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.35e-20)			ATCTTAGTAGTTTATCCCATC	0.338												
EIF4G1	1981	broad.mit.edu	37	3	184035509	184035509	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr3:184035509G>A	uc003fnp.2	+	6	527	c.329G>A	c.(328-330)CGT>CAT	p.R110H	EIF4G1_uc003fno.1_Missense_Mutation_p.R51H|EIF4G1_uc010hxw.1_Intron|EIF4G1_uc003fnt.2_5'UTR|EIF4G1_uc003fnq.2_Missense_Mutation_p.R23H|EIF4G1_uc003fnr.2_5'UTR|EIF4G1_uc010hxx.2_Missense_Mutation_p.R117H|EIF4G1_uc003fns.2_Missense_Mutation_p.R70H|EIF4G1_uc010hxy.2_Missense_Mutation_p.R117H|EIF4G1_uc010hxz.1_Missense_Mutation_p.R23H|EIF4G1_uc003fnv.3_Missense_Mutation_p.R110H|EIF4G1_uc003fnu.3_Missense_Mutation_p.R110H|EIF4G1_uc003fnw.2_Missense_Mutation_p.R117H|EIF4G1_uc003fnx.2_5'Flank|EIF4G1_uc003fny.3_5'Flank	NM_198241	NP_937884	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4	110					insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity			lung(2)|ovary(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	7	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CACCAGGGGCGTTCCACATAC	0.542												
EIF4G1	1981	broad.mit.edu	37	3	184042123	184042123	+	Silent	SNP	T	T	C			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr3:184042123T>C	uc003fnp.2	+	17	2805	c.2607T>C	c.(2605-2607)GAT>GAC	p.D869D	EIF4G1_uc003fno.1_Silent_p.D810D|EIF4G1_uc010hxw.1_Silent_p.D705D|EIF4G1_uc003fnt.2_Silent_p.D580D|EIF4G1_uc003fnq.2_Silent_p.D782D|EIF4G1_uc003fnr.2_Silent_p.D705D|EIF4G1_uc010hxx.2_Silent_p.D876D|EIF4G1_uc003fns.2_Silent_p.D829D|EIF4G1_uc010hxy.2_Silent_p.D876D|EIF4G1_uc003fnv.3_Silent_p.D870D|EIF4G1_uc003fnu.3_Silent_p.D869D|EIF4G1_uc003fnw.2_Silent_p.D876D|EIF4G1_uc003fnx.2_Silent_p.D674D|EIF4G1_uc003fny.3_Silent_p.D673D|SNORD66_uc003fnz.2_5'Flank	NM_198241	NP_937884	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4	869	eIF3/EIF4A-binding.				insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity			lung(2)|ovary(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	7	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			AAGAGATGGATGAAGCTGCTA	0.438												
CLCN2	1181	broad.mit.edu	37	3	184071569	184071569	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr3:184071569C>T	uc003foi.2	-	16	1860	c.1736G>A	c.(1735-1737)CGT>CAT	p.R579H	CLCN2_uc003foh.2_Missense_Mutation_p.R103H|CLCN2_uc010hya.1_Missense_Mutation_p.R562H|CLCN2_uc011brl.1_Missense_Mutation_p.R579H|CLCN2_uc011brm.1_Missense_Mutation_p.R535H	NM_004366	NP_004357	P51788	CLCN2_HUMAN	chloride channel 2	579	Cytoplasmic (By similarity).					chloride channel complex	voltage-gated chloride channel activity				0	all_cancers(143;6.66e-11)|Ovarian(172;0.0339)		Epithelial(37;2.22e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Lubiprostone(DB01046)	GTCCTCCACACGCACCCGGTA	0.642												
OPA1	4976	broad.mit.edu	37	3	193334982	193334982	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr3:193334982C>T	uc003ftm.2	+	4	698	c.464C>T	c.(463-465)GCC>GTC	p.A155V	OPA1_uc003ftg.2_Missense_Mutation_p.A155V|OPA1_uc003fth.2_Intron|OPA1_uc003fti.2_Missense_Mutation_p.A155V|OPA1_uc003ftj.2_Missense_Mutation_p.A155V|OPA1_uc003ftk.2_Intron|OPA1_uc003ftl.2_Intron|OPA1_uc003ftn.2_Intron	NM_015560	NP_056375	O60313	OPA1_HUMAN	optic atrophy 1 isoform 1	155	Mitochondrial intermembrane (By similarity).				apoptosis|axon transport of mitochondrion|inner mitochondrial membrane organization|mitochondrial fission|mitochondrial fusion|positive regulation of anti-apoptosis|response to stimulus|visual perception	dendrite|integral to membrane|mitochondrial crista|mitochondrial intermembrane space|mitochondrial outer membrane	GTP binding|GTPase activity|magnesium ion binding|protein binding				0	all_cancers(143;9.56e-09)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;9.19e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000162)		ATTAGAAAAGCCCTTCCTAGT	0.269												
CPN2	1370	broad.mit.edu	37	3	194062086	194062086	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr3:194062086C>T	uc003fts.2	-	2	1436	c.1346G>A	c.(1345-1347)CGG>CAG	p.R449Q		NM_001080513	NP_001073982	P22792	CPN2_HUMAN	carboxypeptidase N, polypeptide 2	449					protein stabilization	extracellular region	enzyme regulator activity			ovary(5)	5	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.65e-05)		CAAGTGGTCCCGGGTGACGGG	0.652												
ATP13A3	79572	broad.mit.edu	37	3	194169309	194169309	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr3:194169309C>A	uc003fty.3	-	11	1429	c.1027G>T	c.(1027-1029)GGA>TGA	p.G343*	ATP13A3_uc003ftz.1_Nonsense_Mutation_p.G49*	NM_024524	NP_078800	Q9H7F0	AT133_HUMAN	ATPase type 13A3	343					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			ovary(1)	1	all_cancers(143;6.01e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;5.98e-05)		TCTCCTATTCCTTTCACATCC	0.338												
RNF168	165918	broad.mit.edu	37	3	196199224	196199224	+	Silent	SNP	G	G	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr3:196199224G>T	uc003fwq.2	-	6	1720	c.1182C>A	c.(1180-1182)TCC>TCA	p.S394S	RNF168_uc010iah.2_Silent_p.S227S|uc010iag.1_5'Flank	NM_152617	NP_689830	Q8IYW5	RN168_HUMAN	ring finger protein 168	394					double-strand break repair|histone H2A K63-linked ubiquitination|positive regulation of DNA repair|response to ionizing radiation	nucleus|ubiquitin ligase complex	chromatin binding|histone binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding				0	all_cancers(143;1e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;5.25e-24)|all cancers(36;5.47e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00348)		CTGCTTCAAAGGAAGATTCTT	0.398												
MFI2	4241	broad.mit.edu	37	3	196748318	196748318	+	Silent	SNP	G	G	A	rs148913417	byFrequency	TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr3:196748318G>A	uc003fxk.3	-	6	782	c.669C>T	c.(667-669)GAC>GAT	p.D223D	MFI2_uc003fxl.3_Silent_p.D223D|MFI2_uc011bua.1_Missense_Mutation_p.T196M	NM_005929	NP_005920	P08582	TRFM_HUMAN	melanoma-associated antigen p97 isoform 1	223	Transferrin-like 1.				cellular iron ion homeostasis|iron ion transport	anchored to membrane|extracellular region|integral to plasma membrane	ferric iron binding|protein binding				0	all_cancers(143;3.95e-09)|Ovarian(172;0.0634)|Breast(254;0.0838)		Epithelial(36;4.55e-24)|all cancers(36;2.87e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00536)		CAAAAGCCACGTCCCCTGCCC	0.672												
ZNF718	255403	broad.mit.edu	37	4	155138	155138	+	Silent	SNP	T	T	C			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr4:155138T>C	uc003fzt.3	+	8	796	c.663T>C	c.(661-663)CAT>CAC	p.H221H	ZNF595_uc003fzu.1_Intron|ZNF718_uc010iaz.2_RNA|ZNF718_uc003fzw.3_Missense_Mutation_p.M1T	NM_001039127	NP_001034216	Q3SXZ3	ZN718_HUMAN	zinc finger protein 718	221	C2H2-type 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		all_cancers(4;0.0738)|all_epithelial(65;0.139)		Lung(54;0.0681)|Epithelial(2;0.0838)|all cancers(2;0.135)|LUSC - Lung squamous cell carcinoma(95;0.18)		AGAGAATTCATGCCAGAGAGA	0.383												
TMEM175	84286	broad.mit.edu	37	4	951976	951976	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr4:951976G>A	uc003gbq.2	+	11	1305	c.1207G>A	c.(1207-1209)GAG>AAG	p.E403K	TMEM175_uc003gbr.2_Missense_Mutation_p.E321K|TMEM175_uc003gbu.2_Missense_Mutation_p.E321K|TMEM175_uc003gbs.2_Missense_Mutation_p.E286K|TMEM175_uc003gbt.2_Missense_Mutation_p.E286K|TMEM175_uc003gbv.2_Missense_Mutation_p.E286K|TMEM175_uc010ibm.2_Missense_Mutation_p.E219K	NM_032326	NP_115702	Q9BSA9	TM175_HUMAN	transmembrane protein 175	403						integral to membrane					0			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			GCACCAGGCGGAGACGCTGCA	0.667												
TMEM175	84286	broad.mit.edu	37	4	952157	952157	+	Missense_Mutation	SNP	G	G	A	rs139453980		TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr4:952157G>A	uc003gbq.2	+	11	1486	c.1388G>A	c.(1387-1389)CGC>CAC	p.R463H	TMEM175_uc003gbr.2_Missense_Mutation_p.R381H|TMEM175_uc003gbu.2_Missense_Mutation_p.R381H|TMEM175_uc003gbs.2_Missense_Mutation_p.R346H|TMEM175_uc003gbt.2_Missense_Mutation_p.R346H|TMEM175_uc003gbv.2_Missense_Mutation_p.R346H|TMEM175_uc010ibm.2_Missense_Mutation_p.R279H	NM_032326	NP_115702	Q9BSA9	TM175_HUMAN	transmembrane protein 175	463	Helical; (Potential).					integral to membrane					0			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			CTGTTGCTGCGCCTGCTCGTG	0.721												
IDUA	3425	broad.mit.edu	37	4	995261	995261	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr4:995261T>C	uc003gby.2	+	5	587	c.499T>C	c.(499-501)TAC>CAC	p.Y167H	IDUA_uc003gbz.2_RNA|IDUA_uc003gca.2_Missense_Mutation_p.Y120H	NM_000203	NP_000194	P35475	IDUA_HUMAN	alpha-L-iduronidase precursor	167					disaccharide metabolic process	lysosome	cation binding|L-iduronidase activity				0			OV - Ovarian serous cystadenocarcinoma(23;0.0158)		Laronidase(DB00090)	TGCAGGTAGGTACGGACTGGC	0.582												
CRIPAK	285464	broad.mit.edu	37	4	1388791	1388791	+	Silent	SNP	G	G	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr4:1388791G>A	uc003gdf.2	+	1	3452	c.492G>A	c.(490-492)GTG>GTA	p.V164V		NM_175918	NP_787114	Q8N1N5	CRPAK_HUMAN	cysteine-rich PAK1 inhibitor	164					ER-nucleus signaling pathway|negative regulation of protein kinase activity|regulation of cytoskeleton organization|response to estrogen stimulus	endoplasmic reticulum|nucleus|plasma membrane	protein binding				0			OV - Ovarian serous cystadenocarcinoma(23;0.0106)			GTGCCGACGTGGAGTGCCCGC	0.687												
WHSC2	7469	broad.mit.edu	37	4	1993312	1993312	+	Missense_Mutation	SNP	T	T	G			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr4:1993312T>G	uc003gem.2	-	2	614	c.374A>C	c.(373-375)AAT>ACT	p.N125T	WHSC2_uc003gel.2_Missense_Mutation_p.N39T|WHSC2_uc003gen.2_Intron	NM_005663	NP_005654	Q9H3P2	NELFA_HUMAN	Wolf-Hirschhorn syndrome candidate 2 protein	114					multicellular organismal development|positive regulation of viral transcription|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm				skin(1)	1			OV - Ovarian serous cystadenocarcinoma(23;0.0155)			AACGTTGGGATTCTGCTCCTC	0.502												
POLN	353497	broad.mit.edu	37	4	2083454	2083454	+	Silent	SNP	G	G	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr4:2083454G>A	uc003ger.2	-	20	2214	c.2214C>T	c.(2212-2214)ATC>ATT	p.I738I	POLN_uc010icg.1_Silent_p.I186I|POLN_uc010ich.1_Silent_p.I270I	NM_181808	NP_861524	Q7Z5Q5	DPOLN_HUMAN	DNA-directed DNA polymerase nu	738					DNA repair|DNA replication	nucleus	DNA binding|DNA-directed DNA polymerase activity			kidney(2)|ovary(1)|skin(1)	4			OV - Ovarian serous cystadenocarcinoma(23;0.0955)			TTCTGCCCATGATGGACACCA	0.587								DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage				
SH3BP2	6452	broad.mit.edu	37	4	2831297	2831297	+	Silent	SNP	C	C	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr4:2831297C>A	uc003gfi.3	+	8	784	c.664C>A	c.(664-666)CGG>AGG	p.R222R	SH3BP2_uc011bvp.1_Silent_p.R250R|SH3BP2_uc003gfj.3_Silent_p.R279R|SH3BP2_uc003gfk.3_Silent_p.R222R|SH3BP2_uc003gfl.3_Silent_p.R155R|SH3BP2_uc003gfm.3_Silent_p.R197R	NM_001122681	NP_001116153	P78314	3BP2_HUMAN	SH3-domain binding protein 2 isoform a	222					signal transduction		SH3 domain binding|SH3/SH2 adaptor activity			central_nervous_system(1)	1				UCEC - Uterine corpus endometrioid carcinoma (64;0.164)		TGACATGCCCCGGGCCCACTC	0.667									Cherubism			
RGS12	6002	broad.mit.edu	37	4	3318198	3318198	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr4:3318198C>T	uc003ggw.2	+	2	1205	c.301C>T	c.(301-303)CGC>TGC	p.R101C	RGS12_uc003ggu.2_Missense_Mutation_p.R101C|RGS12_uc010ics.1_Intron|RGS12_uc011bvr.1_RNA|RGS12_uc003ggv.2_Missense_Mutation_p.R101C|RGS12_uc003ggx.1_Missense_Mutation_p.R101C	NM_198229	NP_937872	O14924	RGS12_HUMAN	regulator of G-protein signalling 12 isoform 1	101						condensed nuclear chromosome|cytoplasm|plasma membrane	GTPase activator activity|receptor signaling protein activity			skin(1)	1				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		AGGCGTCGGCCGCTTCGAATC	0.458												
RGS12	6002	broad.mit.edu	37	4	3425305	3425305	+	Silent	SNP	G	G	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr4:3425305G>A	uc003ggw.2	+	13	4075	c.3171G>A	c.(3169-3171)ACG>ACA	p.T1057T	RGS12_uc003ggv.2_Silent_p.T1057T|RGS12_uc003ggy.1_Silent_p.T455T|RGS12_uc003ggz.2_Silent_p.T409T|RGS12_uc010icu.1_Silent_p.T256T|RGS12_uc011bvs.1_Silent_p.T399T|RGS12_uc003gha.2_Silent_p.T399T|RGS12_uc010icv.2_Silent_p.T256T|RGS12_uc003ghb.2_Silent_p.T256T	NM_198229	NP_937872	O14924	RGS12_HUMAN	regulator of G-protein signalling 12 isoform 1	1057	RBD 2.					condensed nuclear chromosome|cytoplasm|plasma membrane	GTPase activator activity|receptor signaling protein activity			skin(1)	1				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		AGCCCGTCACGGAGGTGCTGC	0.622												
HGFAC	3083	broad.mit.edu	37	4	3444812	3444812	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr4:3444812T>C	uc003ghc.2	+	3	337	c.334T>C	c.(334-336)TTC>CTC	p.F112L	HGFAC_uc010icw.2_Missense_Mutation_p.F112L	NM_001528	NP_001519	Q04756	HGFA_HUMAN	HGF activator preproprotein	112	Fibronectin type-II.				proteolysis	extracellular space	protein binding|serine-type endopeptidase activity			central_nervous_system(2)	2				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		CAGGTTCCCCTTCCGCTACGG	0.716												
DOK7	285489	broad.mit.edu	37	4	3494914	3494914	+	Missense_Mutation	SNP	C	C	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr4:3494914C>A	uc003ghd.2	+	7	1271	c.1201C>A	c.(1201-1203)CTG>ATG	p.L401M	DOK7_uc003ghe.2_Missense_Mutation_p.L263M|DOK7_uc003ghf.2_Silent_p.P142P|DOK7_uc003ghg.1_Missense_Mutation_p.L91M	NM_173660	NP_775931	Q18PE1	DOK7_HUMAN	downstream of tyrosine kinase 7 isoform 1	401					positive regulation of protein tyrosine kinase activity	cell junction|synapse	insulin receptor binding|protein kinase binding			skin(1)	1				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		GCCCACCTCCCTGCGGGCCCA	0.697												
TMEM128	85013	broad.mit.edu	37	4	4239591	4239591	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr4:4239591A>G	uc003ghr.1	-	4	500	c.470T>C	c.(469-471)GTT>GCT	p.V157A	TMEM128_uc003ghq.1_Missense_Mutation_p.V133A|TMEM128_uc003ghs.2_3'UTR|TMEM128_uc011bvv.1_Missense_Mutation_p.V157A|TMEM128_uc011bvw.1_Intron	NM_032927	NP_116316	Q5BJH2	TM128_HUMAN	transmembrane protein 128	157	Helical; (Potential).					integral to membrane					0				UCEC - Uterine corpus endometrioid carcinoma (64;0.166)		AAACATGACAACCCCCATAAA	0.363												
CYTL1	54360	broad.mit.edu	37	4	5021035	5021035	+	Missense_Mutation	SNP	C	C	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr4:5021035C>A	uc003gig.2	-	1	163	c.138G>T	c.(136-138)CAG>CAT	p.Q46H		NM_018659	NP_061129	Q9NRR1	CYTL1_HUMAN	cytokine-like 1 precursor	46					signal transduction	extracellular space|soluble fraction	receptor binding			skin(1)	1				UCEC - Uterine corpus endometrioid carcinoma (64;0.164)		GCTCCGAGACCTGCAGGAGGT	0.647												
MAN2B2	23324	broad.mit.edu	37	4	6621751	6621751	+	Missense_Mutation	SNP	C	C	T	rs149521690	byFrequency	TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr4:6621751C>T	uc003gjf.1	+	18	2948	c.2912C>T	c.(2911-2913)ACG>ATG	p.T971M	MAN2B2_uc003gje.1_3'UTR|MAN2B2_uc011bwf.1_Missense_Mutation_p.T920M	NM_015274	NP_056089	Q9Y2E5	MA2B2_HUMAN	mannosidase, alpha, class 2B, member 2	971					mannose metabolic process	extracellular region	alpha-mannosidase activity|carbohydrate binding|zinc ion binding			ovary(2)	2						AGCTGGAGGACGGGGCCTGGC	0.677												
ABLIM2	84448	broad.mit.edu	37	4	7985021	7985021	+	Silent	SNP	C	C	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr4:7985021C>T	uc003gko.2	-	19	1835	c.1692G>A	c.(1690-1692)CTG>CTA	p.L564L	ABLIM2_uc003gkk.2_Silent_p.L189L|ABLIM2_uc003gkl.2_Silent_p.L292L|ABLIM2_uc003gkj.3_Silent_p.L598L|ABLIM2_uc003gkm.3_Silent_p.L512L|ABLIM2_uc003gkp.2_Silent_p.L484L|ABLIM2_uc003gkq.2_Silent_p.L525L|ABLIM2_uc003gkr.2_Silent_p.L474L|ABLIM2_uc003gki.2_RNA	NM_001130084	NP_001123556	Q6H8Q1	ABLM2_HUMAN	actin binding LIM protein family, member 2	564	HP.				axon guidance|cytoskeleton organization	actin cytoskeleton|cytoplasm|intermediate filament cytoskeleton|nucleus	actin binding|zinc ion binding			pancreas(3)	3						CGTCTTTGGGCAGTTTCACGC	0.587												
DRD5	1816	broad.mit.edu	37	4	9783796	9783796	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr4:9783796C>T	uc003gmb.3	+	1	539	c.143C>T	c.(142-144)ACC>ATC	p.T48I		NM_000798	NP_000789	P21918	DRD5_HUMAN	dopamine receptor D5	48	Helical; Name=1; (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)	TGCCTGCTGACCCTACTCATC	0.677												
BOD1L	259282	broad.mit.edu	37	4	13605418	13605418	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr4:13605418C>T	uc003gmz.1	-	10	3223	c.3106G>A	c.(3106-3108)GAC>AAC	p.D1036N	BOD1L_uc010idr.1_Missense_Mutation_p.D373N	NM_148894	NP_683692	Q8NFC6	BOD1L_HUMAN	biorientation of chromosomes in cell division	1036	Lys-rich.						DNA binding			ovary(5)|breast(1)	6						TTATTTTCGTCCTTCTTTTTT	0.378												
CPEB2	132864	broad.mit.edu	37	4	15055827	15055827	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr4:15055827A>G	uc003gni.1	+	7	1199	c.1112A>G	c.(1111-1113)TAT>TGT	p.Y371C	CPEB2_uc003gnj.1_Missense_Mutation_p.Y341C|CPEB2_uc003gnk.1_Missense_Mutation_p.Y379C|CPEB2_uc003gnl.1_Missense_Mutation_p.Y352C|CPEB2_uc003gnm.1_Missense_Mutation_p.Y349C|CPEB2_uc003gnn.1_Missense_Mutation_p.Y344C	NM_182485	NP_872291	Q7Z5Q1	CPEB2_HUMAN	cytoplasmic polyadenylation element binding	371	RRM 1.				regulation of translation	cytoplasm	nucleotide binding|RNA binding			skin(1)	1						AGCAAGTCCTATTTTCCACCA	0.343												
TAPT1	202018	broad.mit.edu	37	4	16165090	16165090	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr4:16165090T>C	uc010ied.1	-	14	1626	c.1545A>G	c.(1543-1545)ATA>ATG	p.I515M	TAPT1_uc011bxd.1_RNA|TAPT1_uc011bxe.1_Missense_Mutation_p.I404M	NM_153365	NP_699196	Q6NXT6	TAPT1_HUMAN	transmembrane anterior posterior transformation	515						integral to membrane	growth hormone-releasing hormone receptor activity				0						CAAGTAATGGTATGATATTTT	0.378												
SLIT2	9353	broad.mit.edu	37	4	20490474	20490474	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr4:20490474G>A	uc003gpr.1	+	8	848	c.644G>A	c.(643-645)TGC>TAC	p.C215Y	SLIT2_uc003gps.1_Missense_Mutation_p.C215Y	NM_004787	NP_004778	O94813	SLIT2_HUMAN	slit homolog 2 precursor	215	LRRCT 1.				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						TATTGTGACTGCCACCTGGCC	0.468												
PI4K2B	55300	broad.mit.edu	37	4	25270149	25270149	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr4:25270149A>G	uc003grk.2	+	8	1296	c.1163A>G	c.(1162-1164)GAC>GGC	p.D388G	PI4K2B_uc011bxs.1_Missense_Mutation_p.D292G	NM_018323	NP_060793	Q8TCG2	P4K2B_HUMAN	phosphatidylinositol 4-kinase type 2 beta	388	PI3K/PI4K.					cytoplasm|membrane	1-phosphatidylinositol 4-kinase activity|ATP binding			ovary(2)|skin(2)	4		Breast(46;0.173)				TATATTTCTGACATGAACTTT	0.303												
STIM2	57620	broad.mit.edu	37	4	27024487	27024487	+	Missense_Mutation	SNP	G	G	A	rs145387199		TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr4:27024487G>A	uc003gsh.3	+	13	2611	c.2395G>A	c.(2395-2397)GAC>AAC	p.D799N	STIM2_uc003gsg.3_Missense_Mutation_p.D791N|STIM2_uc010iex.2_3'UTR|STIM2_uc010iey.2_3'UTR	NM_020860	NP_065911	Q9P246	STIM2_HUMAN	stromal interaction molecule 2	704	Cytoplasmic (Potential).				activation of store-operated calcium channel activity|calcium ion transport|cellular calcium ion homeostasis|negative regulation of calcium ion transport via store-operated calcium channel activity	endoplasmic reticulum membrane|integral to membrane|plasma membrane	calcium channel regulator activity|calcium ion binding|protein binding			central_nervous_system(1)|skin(1)	2		Breast(46;0.0503)				AGCTGGCAACGACAGTAAACC	0.468												
N4BP2	55728	broad.mit.edu	37	4	40108561	40108561	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr4:40108561C>T	uc003guy.3	+	5	1753	c.1415C>T	c.(1414-1416)ACT>ATT	p.T472I	N4BP2_uc010ifq.2_Missense_Mutation_p.T392I|N4BP2_uc010ifr.2_Missense_Mutation_p.T392I	NM_018177	NP_060647	Q86UW6	N4BP2_HUMAN	Nedd4 binding protein 2	472						cytoplasm	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding			lung(3)|breast(2)|kidney(2)|ovary(1)	8						ATTCTTAGTACTGATGATTAT	0.318												
RHOH	399	broad.mit.edu	37	4	40244932	40244932	+	Translation_Start_Site	SNP	G	G	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr4:40244932G>A	uc003guz.2	+	3	650	c.-74G>A	c.(-76--72)GCGTG>GCATG			NM_004310	NP_004301	Q15669	RHOH_HUMAN	ras homolog gene family, member H precursor						negative regulation of I-kappaB kinase/NF-kappaB cascade|regulation of small GTPase mediated signal transduction|regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|T cell differentiation	cytosol|mitochondrion|plasma membrane	GTP binding|GTPase inhibitor activity|kinase inhibitor activity|Rho GTPase binding			ovary(1)|lung(1)	2						GCTGAATGGCGTGTGCTGCAG	0.557												
LIMCH1	22998	broad.mit.edu	37	4	41607973	41607973	+	Silent	SNP	G	G	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr4:41607973G>A	uc003gvu.3	+	6	492	c.438G>A	c.(436-438)ACG>ACA	p.T146T	LIMCH1_uc003gvt.1_5'UTR|LIMCH1_uc003gvv.3_Silent_p.T146T|LIMCH1_uc003gvw.3_Silent_p.T146T|LIMCH1_uc003gvx.3_Silent_p.T146T|LIMCH1_uc003gwe.3_Silent_p.T146T|LIMCH1_uc003gvy.3_5'UTR|LIMCH1_uc003gwa.3_5'UTR|LIMCH1_uc003gvz.3_5'UTR	NM_014988	NP_055803	Q9UPQ0	LIMC1_HUMAN	LIM and calponin homology domains 1 isoform a	146					actomyosin structure organization		actin binding|zinc ion binding			ovary(2)|pancreas(1)|skin(1)	4						ACAGCGGAACGACACTAAACC	0.448												
GUF1	60558	broad.mit.edu	37	4	44699434	44699434	+	Silent	SNP	C	C	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr4:44699434C>T	uc003gww.3	+	16	2052	c.1845C>T	c.(1843-1845)GCC>GCT	p.A615A	GUF1_uc011bza.1_Silent_p.A22A	NM_021927	NP_068746	Q8N442	GUF1_HUMAN	GUF1 GTPase homolog	615					translation	mitochondrial inner membrane	GTP binding|GTPase activity			upper_aerodigestive_tract(1)	1						GTGTGAAAGCCTATAGGAAAA	0.299												
SLAIN2	57606	broad.mit.edu	37	4	48384616	48384616	+	Silent	SNP	T	T	C			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr4:48384616T>C	uc003gya.3	+	5	1038	c.894T>C	c.(892-894)TCT>TCC	p.S298S	SLAIN2_uc003gyb.1_5'UTR	NM_020846	NP_065897	Q9P270	SLAI2_HUMAN	SLAIN motif family, member 2	298						centrosome					0						CCACCACGTCTCGGCGCAGTT	0.338												
FRYL	285527	broad.mit.edu	37	4	48588687	48588687	+	Silent	SNP	A	A	G			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr4:48588687A>G	uc003gyh.1	-	19	2304	c.1699T>C	c.(1699-1701)TTG>CTG	p.L567L	FRYL_uc003gyk.2_Silent_p.L567L	NM_015030	NP_055845	O94915	FRYL_HUMAN	furry-like	567					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			skin(1)	1						TCAGGAATCAACCTTGGAATC	0.343												
FRYL	285527	broad.mit.edu	37	4	48622719	48622719	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr4:48622719C>T	uc003gyh.1	-	6	856	c.251G>A	c.(250-252)CGC>CAC	p.R84H	FRYL_uc003gyk.2_Missense_Mutation_p.R84H|FRYL_uc003gyl.1_Missense_Mutation_p.R135H|FRYL_uc003gym.1_Missense_Mutation_p.R84H	NM_015030	NP_055845	O94915	FRYL_HUMAN	furry-like	84					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			skin(1)	1						TCCATTTTGGCGTCTGTACCA	0.418												
LRRC66	339977	broad.mit.edu	37	4	52883364	52883364	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr4:52883364T>C	uc003gzi.2	-	1	429	c.416A>G	c.(415-417)CAC>CGC	p.H139R		NM_001024611	NP_001019782	Q68CR7	LRC66_HUMAN	leucine rich repeat containing 66	139						integral to membrane				ovary(1)|central_nervous_system(1)|skin(1)	3						GCTGCTTCTGTGGCGTTTCAC	0.433												
SPATA18	132671	broad.mit.edu	37	4	52943136	52943136	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr4:52943136C>T	uc003gzl.2	+	7	1228	c.950C>T	c.(949-951)GCG>GTG	p.A317V	SPATA18_uc010igl.1_RNA|SPATA18_uc011bzq.1_Missense_Mutation_p.A285V|SPATA18_uc003gzk.1_Missense_Mutation_p.A317V	NM_145263	NP_660306	Q8TC71	MIEAP_HUMAN	spermatogenesis associated 18 homolog	317					mitochondrial protein catabolic process|mitochondrion degradation by induced vacuole formation|response to DNA damage stimulus	mitochondrial outer membrane	protein binding			ovary(2)|skin(2)	4			GBM - Glioblastoma multiforme(4;1.77e-13)|LUSC - Lung squamous cell carcinoma(32;0.00204)			CGCCTGGACGCGCAGTGCCTG	0.642												
FIP1L1	81608	broad.mit.edu	37	4	54325484	54325484	+	Silent	SNP	C	C	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr4:54325484C>T	uc003gzy.2	+	18	1839	c.1653C>T	c.(1651-1653)CGC>CGT	p.R551R	PDGFRA_uc003haa.2_Intron|FIP1L1_uc011bzu.1_Silent_p.R545R|FIP1L1_uc003gzz.2_Silent_p.R477R|FIP1L1_uc003hab.2_Silent_p.R516R|FIP1L1_uc003hac.2_Silent_p.R305R|FIP1L1_uc010ign.2_RNA|FIP1L1_uc003had.2_Missense_Mutation_p.A136V|FIP1L1_uc003hae.2_Missense_Mutation_p.A139V	NM_030917	NP_112179	Q6UN15	FIP1_HUMAN	FIP1 like 1 isoform 1	551	Arg-rich.|Sufficient for interaction with CPSF1 and CSTF3.|Glu-rich.				mRNA processing	nucleus	RNA binding			ovary(1)|skin(1)	2			GBM - Glioblastoma multiforme(3;3.31e-36)|LUSC - Lung squamous cell carcinoma(32;0.0134)			GTAGACGTCGCCATGAAAGTG	0.373			T	PDGFRA	idiopathic hypereosinophilic syndrome							
CDKL2	8999	broad.mit.edu	37	4	76522205	76522205	+	Silent	SNP	A	A	G			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr4:76522205A>G	uc003hiq.2	-	9	1761	c.1236T>C	c.(1234-1236)ATT>ATC	p.I412I	CDKL2_uc011cbp.1_Silent_p.I412I	NM_003948	NP_003939	Q92772	CDKL2_HUMAN	cyclin-dependent kinase-like 2	412					sex differentiation|signal transduction	cytoplasm|nucleus	ATP binding|cyclin-dependent protein kinase activity			ovary(2)|stomach(2)|breast(2)|skin(1)	7			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)			TAAGTGGGGGAATTGCCACGC	0.453												
SHROOM3	57619	broad.mit.edu	37	4	77662420	77662420	+	Missense_Mutation	SNP	G	G	A	rs151102508		TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr4:77662420G>A	uc011cbx.1	+	5	4047	c.3094G>A	c.(3094-3096)GTG>ATG	p.V1032M	SHROOM3_uc011cbz.1_Missense_Mutation_p.V856M|SHROOM3_uc003hkf.1_Missense_Mutation_p.V907M|SHROOM3_uc003hkg.2_Missense_Mutation_p.V810M	NM_020859	NP_065910	Q8TF72	SHRM3_HUMAN	shroom family member 3 protein	1032					apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding			skin(2)|ovary(1)	3			Lung(101;0.0903)			GGTGGGGATCGTGGAGGAGGC	0.697												
PRDM8	56978	broad.mit.edu	37	4	81124490	81124490	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr4:81124490A>G	uc010ijo.2	+	8	2713	c.1874A>G	c.(1873-1875)AAC>AGC	p.N625S	PRDM8_uc003hmb.3_Missense_Mutation_p.N625S|PRDM8_uc003hmc.3_Missense_Mutation_p.N625S	NM_020226	NP_064611	Q9NQV8	PRDM8_HUMAN	PR domain containing 8	625	C2H2-type 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(1)	1						CCCGCGCAGAACTGGTGCGCC	0.388												
HNRPDL	9987	broad.mit.edu	37	4	83348411	83348411	+	Missense_Mutation	SNP	T	T	G			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr4:83348411T>G	uc003hmr.2	-	5	1488	c.953A>C	c.(952-954)CAG>CCG	p.Q318P	HNRPDL_uc003hmq.2_RNA|HNRPDL_uc003hms.2_RNA|HNRPDL_uc003hmt.2_Missense_Mutation_p.Q318P	NM_031372	NP_112740	O14979	HNRDL_HUMAN	heterogeneous nuclear ribonucleoprotein D-like	318	Poly-Gln.				regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	cytoplasm|heterogeneous nuclear ribonucleoprotein complex	double-stranded DNA binding|nucleotide binding|poly(A) RNA binding|protein binding|single-stranded DNA binding			skin(1)	1		Hepatocellular(203;0.114)				TTGTTGTTGCTGTTGCTGCCT	0.413												
SEC31A	22872	broad.mit.edu	37	4	83770124	83770124	+	Missense_Mutation	SNP	T	T	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr4:83770124T>A	uc003hnf.2	-	20	2499	c.2335A>T	c.(2335-2337)ATC>TTC	p.I779F	SEC31A_uc003hne.2_Missense_Mutation_p.I512F|SEC31A_uc011ccl.1_Missense_Mutation_p.I740F|SEC31A_uc003hnl.2_Missense_Mutation_p.I740F|SEC31A_uc003hng.2_Missense_Mutation_p.I779F|SEC31A_uc003hnh.2_Missense_Mutation_p.I779F|SEC31A_uc003hni.2_Missense_Mutation_p.I779F|SEC31A_uc003hnj.2_Missense_Mutation_p.I740F|SEC31A_uc011ccm.1_Missense_Mutation_p.I774F|SEC31A_uc011ccn.1_Missense_Mutation_p.I779F|SEC31A_uc003hnk.2_Missense_Mutation_p.I740F|SEC31A_uc003hnm.2_Missense_Mutation_p.I779F|SEC31A_uc003hnn.1_Missense_Mutation_p.I779F	NM_001077207	NP_001070675	O94979	SC31A_HUMAN	SEC31 homolog A isoform 1	779					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)				AGCTGCATGATATTTGGCTAA	0.413												
COPS4	51138	broad.mit.edu	37	4	83978203	83978203	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr4:83978203A>G	uc003hoa.2	+	5	674	c.535A>G	c.(535-537)ACC>GCC	p.T179A	COPS4_uc003hob.2_Missense_Mutation_p.T179A|COPS4_uc010ijw.2_Missense_Mutation_p.T179A|COPS4_uc010ijx.2_Missense_Mutation_p.T179A	NM_016129	NP_057213	Q9BT78	CSN4_HUMAN	COP9 signalosome subunit 4	179					cullin deneddylation	cytoplasm|signalosome	protein binding			kidney(1)	1		Hepatocellular(203;0.114)				GAATGAATCAACCAATGAACA	0.373												
PLAC8	51316	broad.mit.edu	37	4	84015872	84015872	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr4:84015872T>C	uc003hoe.2	-	4	477	c.316A>G	c.(316-318)ATC>GTC	p.I106V	PLAC8_uc011cco.1_Missense_Mutation_p.I106V|PLAC8_uc010ijy.2_RNA|PLAC8_uc010ijz.2_RNA|PLAC8_uc003hod.2_Missense_Mutation_p.I106V	NM_001130716	NP_001124188	Q9NZF1	PLAC8_HUMAN	placenta-specific 8	106										ovary(1)	1		Hepatocellular(203;0.114)				CTTCTGTTGATATCTCTCTTG	0.363												
FAM175A	84142	broad.mit.edu	37	4	84383916	84383916	+	Missense_Mutation	SNP	G	G	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr4:84383916G>T	uc003hou.2	-	9	1001	c.936C>A	c.(934-936)AAC>AAA	p.N312K	MRPS18C_uc011ccu.1_Intron|FAM175A_uc003hot.2_Missense_Mutation_p.N140K|FAM175A_uc003hov.2_Missense_Mutation_p.N203K	NM_139076	NP_620775	Q6UWZ7	F175A_HUMAN	coiled-coil domain containing 98	312					chromatin modification|double-strand break repair|G2/M transition DNA damage checkpoint|positive regulation of DNA repair|response to ionizing radiation	BRCA1-A complex	polyubiquitin binding			kidney(1)	1						GGTGGTTGTAGTTACAGCTAC	0.363												
WDFY3	23001	broad.mit.edu	37	4	85708820	85708820	+	Missense_Mutation	SNP	G	G	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr4:85708820G>T	uc003hpd.2	-	23	4124	c.3716C>A	c.(3715-3717)CCA>CAA	p.P1239Q		NM_014991	NP_055806	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3 isoform	1239						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			ovary(2)|central_nervous_system(1)	3		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		CACCACTGGTGGATTTGCCGA	0.493												
SPP1	6696	broad.mit.edu	37	4	88902839	88902839	+	Silent	SNP	C	C	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr4:88902839C>T	uc003hra.2	+	6	594	c.429C>T	c.(427-429)ACC>ACT	p.T143T	SPP1_uc003hrb.2_Silent_p.T116T|SPP1_uc003hrc.2_Silent_p.T129T|SPP1_uc011cde.1_Silent_p.T156T|SPP1_uc003hrd.2_Silent_p.T102T	NM_001040058	NP_001035147	P10451	OSTP_HUMAN	secreted phosphoprotein 1 isoform a	143					biomineral tissue development|cell adhesion|decidualization|embryo implantation|ossification|response to vitamin D	extracellular space	cytokine activity			ovary(1)	1		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-05)		TGCCAGCAACCGAAGTTTTCA	0.458												
ABCG2	9429	broad.mit.edu	37	4	89052253	89052253	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr4:89052253A>G	uc003hrg.2	-	5	984	c.491T>C	c.(490-492)GTC>GCC	p.V164A	ABCG2_uc003hrh.2_Missense_Mutation_p.V164A|ABCG2_uc003hrf.2_Missense_Mutation_p.V34A	NM_004827	NP_004818	Q9UNQ0	ABCG2_HUMAN	ATP-binding cassette, sub-family G, member 2	164	ABC transporter.|Cytoplasmic (Potential).				cellular iron ion homeostasis|urate metabolic process	integral to membrane|plasma membrane	ATP binding|heme transporter activity|protein homodimerization activity|xenobiotic-transporting ATPase activity			central_nervous_system(1)	1		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;7.02e-05)	Imatinib(DB00619)|Mitoxantrone(DB01204)|Nicardipine(DB00622)|Nitrendipine(DB01054)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Topotecan(DB01030)	CTCTTGAATGACCCTGTTAAT	0.433												
HERC3	8916	broad.mit.edu	37	4	89589160	89589160	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr4:89589160T>C	uc003hrw.1	+	14	1727	c.1561T>C	c.(1561-1563)TAT>CAT	p.Y521H	HERC3_uc011cdn.1_Missense_Mutation_p.Y403H|HERC3_uc011cdo.1_Intron	NM_014606	NP_055421	Q15034	HERC3_HUMAN	hect domain and RLD 3	521					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasmic membrane-bounded vesicle	ubiquitin-protein ligase activity			lung(2)|prostate(1)|skin(1)	4				OV - Ovarian serous cystadenocarcinoma(123;0.000319)		GGATTCCAAGTATTATATAAC	0.428												
GRID2	2895	broad.mit.edu	37	4	94316827	94316827	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr4:94316827C>T	uc011cdt.1	+	9	1573	c.1315C>T	c.(1315-1317)CGT>TGT	p.R439C	GRID2_uc011cdu.1_Missense_Mutation_p.R344C	NM_001510	NP_001501	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	439	Extracellular (Potential).				glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			ovary(3)|skin(2)|large_intestine(1)	6		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)	GAATAACATGCGTGGAGTGGT	0.393												
BANK1	55024	broad.mit.edu	37	4	102951225	102951225	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr4:102951225A>G	uc003hvy.3	+	10	1977	c.1703A>G	c.(1702-1704)GAA>GGA	p.E568G	BANK1_uc003hvx.3_Missense_Mutation_p.E553G|BANK1_uc010ill.2_Missense_Mutation_p.E435G|BANK1_uc003hvz.3_Missense_Mutation_p.E538G	NM_017935	NP_060405	Q8NDB2	BANK1_HUMAN	B-cell scaffold protein with ankyrin repeats 1	568					B cell activation					ovary(2)|skin(1)	3		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;2.7e-07)		aaagaagaggaaaaagagcag	0.294												
TACR3	6870	broad.mit.edu	37	4	104640758	104640758	+	Silent	SNP	G	G	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr4:104640758G>A	uc003hxe.1	-	1	218	c.75C>T	c.(73-75)ACC>ACT	p.T25T		NM_001059	NP_001050	P29371	NK3R_HUMAN	tachykinin receptor 3	25	Extracellular (Potential).					integral to plasma membrane	tachykinin receptor activity			ovary(3)|lung(2)|breast(1)|skin(1)	7		Hepatocellular(203;0.217)		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)		CTAGCGAGGCGGTCAGGTTCA	0.687												
GSTCD	79807	broad.mit.edu	37	4	106755632	106755632	+	Silent	SNP	T	T	C			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr4:106755632T>C	uc003hxz.3	+	9	1617	c.1545T>C	c.(1543-1545)GCT>GCC	p.A515A	GSTCD_uc003hxy.3_Silent_p.A428A|GSTCD_uc011cfb.1_Silent_p.A138A	NM_001031720	NP_001026890	Q8NEC7	GSTCD_HUMAN	glutathione S-transferase, C-terminal domain	515						cytoplasm	rRNA methyltransferase activity			breast(1)|central_nervous_system(1)	2		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;3.15e-07)|READ - Rectum adenocarcinoma(30;0.139)		CATTGCATGCTTGTGGAGTGG	0.423												
SEC24B	10427	broad.mit.edu	37	4	110459743	110459743	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr4:110459743A>G	uc003hzk.2	+	23	3738	c.3683A>G	c.(3682-3684)CAC>CGC	p.H1228R	SEC24B_uc003hzl.2_Missense_Mutation_p.H1193R|SEC24B_uc011cfp.1_Missense_Mutation_p.H1258R|SEC24B_uc011cfq.1_Missense_Mutation_p.H1227R|SEC24B_uc011cfr.1_Missense_Mutation_p.H1192R	NM_006323	NP_006314	O95487	SC24B_HUMAN	SEC24 (S. cerevisiae) homolog B isoform a	1228					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)		CCAATCCTTCACATAGTAAAG	0.363												
C4orf21	55345	broad.mit.edu	37	4	113539998	113539998	+	Missense_Mutation	SNP	C	C	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr4:113539998C>A	uc003iau.2	-	6	1411	c.1200G>T	c.(1198-1200)CAG>CAT	p.Q400H	C4orf21_uc003iaw.2_Missense_Mutation_p.Q400H	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)		ATTTTACTTCCTGATTCCAGG	0.343												
ARSJ	79642	broad.mit.edu	37	4	114824636	114824636	+	Silent	SNP	A	A	G			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr4:114824636A>G	uc003ibq.1	-	2	1482	c.594T>C	c.(592-594)GGT>GGC	p.G198G	ARSJ_uc010imu.1_Silent_p.G198G|ARSJ_uc010imv.1_Silent_p.G26G	NM_024590	NP_078866	Q5FYB0	ARSJ_HUMAN	arylsulfatase J precursor	198						extracellular region	arylsulfatase activity|metal ion binding			ovary(1)	1		Ovarian(17;0.0035)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00194)		CCAAAAGGGAACCAAAAAAGG	0.438												
SYNPO2	171024	broad.mit.edu	37	4	119951132	119951132	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr4:119951132G>A	uc003icm.3	+	4	1398	c.1202G>A	c.(1201-1203)CGT>CAT	p.R401H	SYNPO2_uc010ina.2_Missense_Mutation_p.R401H|SYNPO2_uc010inb.2_Missense_Mutation_p.R401H|SYNPO2_uc011cgh.1_Intron|SYNPO2_uc010inc.2_Missense_Mutation_p.R329H	NM_001128933	NP_001122405	Q9UMS6	SYNP2_HUMAN	synaptopodin 2 isoform b	401	Poly-Arg.					nucleus|Z disc	14-3-3 protein binding|actin binding|muscle alpha-actinin binding			ovary(2)	2						AAGAAGCGACGTCGGAGGGCC	0.507												
PDE5A	8654	broad.mit.edu	37	4	120427073	120427073	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr4:120427073A>G	uc003idh.2	-	17	2359	c.2204T>C	c.(2203-2205)TTT>TCT	p.F735S	uc003ide.3_Intron|PDE5A_uc003idf.2_Missense_Mutation_p.F693S|PDE5A_uc003idg.2_Missense_Mutation_p.F683S	NM_001083	NP_001074	O76074	PDE5A_HUMAN	phosphodiesterase 5A isoform 1	735	Catalytic (By similarity).				platelet activation|signal transduction	cytosol	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|zinc ion binding				0					Dipyridamole(DB00975)|Pentoxifylline(DB00806)|Sildenafil(DB00203)|Tadalafil(DB00820)|Theophylline(DB00277)|Vardenafil(DB00862)	AAGTTCAAAAAATTCTCCTCG	0.308												
TNIP3	79931	broad.mit.edu	37	4	122075732	122075732	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr4:122075732C>T	uc010ing.2	-	5	662	c.466G>A	c.(466-468)GAA>AAA	p.E156K	TNIP3_uc010inh.2_Missense_Mutation_p.E156K|TNIP3_uc011cgj.1_Missense_Mutation_p.E214K|TNIP3_uc010ini.2_Missense_Mutation_p.E156K	NM_024873	NP_079149	Q96KP6	TNIP3_HUMAN	TNFAIP3 interacting protein 3	156	Potential.									ovary(1)	1						ATTTCACATTCGTAATGTTCC	0.358												
TMEM155	132332	broad.mit.edu	37	4	122682762	122682762	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr4:122682762G>A	uc003idx.1	-	5	702	c.143C>T	c.(142-144)GCT>GTT	p.A48V	TMEM155_uc003idy.1_Missense_Mutation_p.A48V	NM_152399	NP_689612	Q4W5P6	TM155_HUMAN	transmembrane protein 155 precursor	48						extracellular region					0						TCCCAGAAAAGCCAGTGCATG	0.423												
TRPC3	7222	broad.mit.edu	37	4	122853842	122853842	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr4:122853842C>T	uc003ieg.2	-	2	645	c.571G>A	c.(571-573)GTA>ATA	p.V191I	TRPC3_uc010inr.2_Missense_Mutation_p.V118I|TRPC3_uc003ief.2_Missense_Mutation_p.V118I|TRPC3_uc011cgl.1_5'UTR	NM_001130698	NP_001124170	Q13507	TRPC3_HUMAN	transient receptor potential cation channel,	106	Cytoplasmic (Potential).|ANK 3.				axon guidance|phototransduction|platelet activation	integral to plasma membrane	protein binding|store-operated calcium channel activity			ovary(2)	2						ATGGCCTCTACGATGCGCACG	0.632												
FAT4	79633	broad.mit.edu	37	4	126239277	126239277	+	Missense_Mutation	SNP	A	A	C			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr4:126239277A>C	uc003ifj.3	+	1	1711	c.1711A>C	c.(1711-1713)ACT>CCT	p.T571P		NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	FAT tumor suppressor homolog 4 precursor	571	Cadherin 5.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						GCTTGTAGTAACTCTCCTAGA	0.502											OREG0016317	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
FAT4	79633	broad.mit.edu	37	4	126371710	126371710	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr4:126371710T>C	uc003ifj.3	+	9	9539	c.9539T>C	c.(9538-9540)GTG>GCG	p.V3180A	FAT4_uc011cgp.1_Missense_Mutation_p.V1478A|FAT4_uc003ifi.1_Missense_Mutation_p.V658A	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	FAT tumor suppressor homolog 4 precursor	3180	Cadherin 30.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						TACTGCAGTGTGACCGTAAAT	0.413												
FAT4	79633	broad.mit.edu	37	4	126373095	126373095	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr4:126373095G>A	uc003ifj.3	+	9	10924	c.10924G>A	c.(10924-10926)GAT>AAT	p.D3642N	FAT4_uc011cgp.1_Missense_Mutation_p.D1940N|FAT4_uc003ifi.1_Missense_Mutation_p.D1120N	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	FAT tumor suppressor homolog 4 precursor	3642	Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						ACAGGATCCAGATGTGTTAGA	0.473												
PLK4	10733	broad.mit.edu	37	4	128814517	128814517	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr4:128814517A>G	uc003ifo.2	+	11	2511	c.2266A>G	c.(2266-2268)AGT>GGT	p.S756G	PLK4_uc011cgs.1_Missense_Mutation_p.S724G|PLK4_uc011cgt.1_Missense_Mutation_p.S715G	NM_014264	NP_055079	O00444	PLK4_HUMAN	polo-like kinase 4	756					G2/M transition of mitotic cell cycle|positive regulation of centriole replication|trophoblast giant cell differentiation	centriole|cleavage furrow|cytosol|nucleolus	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity				0						AAAAAGTGAAAGTGAAGTTAA	0.294												
PCDH10	57575	broad.mit.edu	37	4	134072897	134072897	+	Silent	SNP	G	G	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr4:134072897G>A	uc003iha.2	+	1	2428	c.1602G>A	c.(1600-1602)GAG>GAA	p.E534E	uc003igy.2_5'Flank|PCDH10_uc003igz.2_Silent_p.E534E	NM_032961	NP_116586	Q9P2E7	PCD10_HUMAN	protocadherin 10 isoform 1 precursor	534	Extracellular (Potential).|Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)	2				LUSC - Lung squamous cell carcinoma(193;0.227)		TCGACTATGAGCAGCTGAAGG	0.557												
MAML3	55534	broad.mit.edu	37	4	140641268	140641268	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr4:140641268T>C	uc003ihz.1	-	7	3363	c.2611A>G	c.(2611-2613)ACA>GCA	p.T871A	MGST2_uc010ioi.1_Intron|MAML3_uc011chd.1_Missense_Mutation_p.T339A	NM_018717	NP_061187	Q96JK9	MAML3_HUMAN	mastermind-like 3	872	Gln-rich.				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity			ovary(1)	1	all_hematologic(180;0.162)					GTCATGCCTGTGCTCATATTG	0.582												
ANAPC10	10393	broad.mit.edu	37	4	145916687	145916687	+	Silent	SNP	A	A	G			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr4:145916687A>G	uc003iju.3	-	6	551	c.396T>C	c.(394-396)ACT>ACC	p.T132T	ANAPC10_uc003ijv.3_Silent_p.T132T|ANAPC10_uc003ijw.3_Silent_p.T132T	NM_014885	NP_055700	Q9UM13	APC10_HUMAN	anaphase promoting complex subunit 10	132	DOC.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G2/M transition of mitotic cell cycle|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm	ubiquitin-protein ligase activity				0	all_hematologic(180;0.151)					TGAATGTACGAGTTGGCTTCT	0.398												
TMEM184C	55751	broad.mit.edu	37	4	148555054	148555054	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr4:148555054A>G	uc003ila.3	+	9	1587	c.1018A>G	c.(1018-1020)AGA>GGA	p.R340G		NM_018241	NP_060711	Q9NVA4	T184C_HUMAN	transmembrane protein 184C	340						integral to membrane					0						CTCAGATATTAGAGATGATAT	0.383												
FHDC1	85462	broad.mit.edu	37	4	153897218	153897218	+	Silent	SNP	G	G	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr4:153897218G>T	uc003inf.2	+	11	2850	c.2775G>T	c.(2773-2775)CGG>CGT	p.R925R		NM_033393	NP_203751	Q9C0D6	FHDC1_HUMAN	FH2 domain containing 1	925					actin cytoskeleton organization		actin binding			large_intestine(1)|ovary(1)	2	all_hematologic(180;0.093)					TGTCATCCCGGGGGCCCTCCC	0.667												
TLR2	7097	broad.mit.edu	37	4	154625490	154625490	+	Silent	SNP	G	G	A	rs150700268		TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr4:154625490G>A	uc003inq.2	+	3	1650	c.1431G>A	c.(1429-1431)CCG>CCA	p.P477P	TLR2_uc003inr.2_Silent_p.P477P|TLR2_uc003ins.2_Silent_p.P477P	NM_003264	NP_003255	O60603	TLR2_HUMAN	toll-like receptor 2 precursor	477	LRR 13.|Extracellular (Potential).				cellular response to diacyl bacterial lipopeptide|cellular response to lipoteichoic acid|cellular response to triacyl bacterial lipopeptide|detection of diacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|I-kappaB phosphorylation|induction of apoptosis|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of interferon-beta production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of Wnt receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytoplasm|integral to plasma membrane|Toll-like receptor 1-Toll-like receptor 2 protein complex	Gram-positive bacterial cell surface binding|lipopolysaccharide receptor activity|peptidoglycan binding|protein heterodimerization activity|transmembrane receptor activity|triacyl lipopeptide binding			ovary(1)|lung(1)|breast(1)	3	all_hematologic(180;0.093)	Renal(120;0.117)				TGAATTTGCCGCAACTCAAAG	0.373												
DCHS2	54798	broad.mit.edu	37	4	155163886	155163886	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr4:155163886A>G	uc003inw.2	-	22	5615	c.5615T>C	c.(5614-5616)CTT>CCT	p.L1872P		NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN	dachsous 2 isoform 1	1872	Cadherin 16.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|pancreas(1)	4	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		CGTATTAGAAAGCCTGGGCAT	0.398												
KLHL2	11275	broad.mit.edu	37	4	166218824	166218824	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr4:166218824C>T	uc003irb.2	+	7	977	c.718C>T	c.(718-720)CGA>TGA	p.R240*	KLHL2_uc011cjm.1_Nonsense_Mutation_p.R244*|KLHL2_uc003irc.2_Nonsense_Mutation_p.R152*|KLHL2_uc010ira.2_5'UTR	NM_007246	NP_009177	O95198	KLHL2_HUMAN	kelch-like 2, Mayven isoform 1	240					intracellular protein transport	actin cytoskeleton|cytoplasm	actin binding|transporter activity				0	all_hematologic(180;0.221)			GBM - Glioblastoma multiforme(119;2.94e-27)|COAD - Colon adenocarcinoma(41;1.4e-05)|Kidney(143;4.95e-05)|KIRC - Kidney renal clear cell carcinoma(143;0.000927)		GTTTATGGCCCGACTGATGGA	0.398												
KLHL2	11275	broad.mit.edu	37	4	166231869	166231869	+	Silent	SNP	T	T	C			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr4:166231869T>C	uc003irb.2	+	10	1463	c.1204T>C	c.(1204-1206)TTA>CTA	p.L402L	KLHL2_uc011cjm.1_Silent_p.L406L|KLHL2_uc003irc.2_Silent_p.L314L|KLHL2_uc010ira.2_Silent_p.L55L	NM_007246	NP_009177	O95198	KLHL2_HUMAN	kelch-like 2, Mayven isoform 1	402	Kelch 3.				intracellular protein transport	actin cytoskeleton|cytoplasm	actin binding|transporter activity				0	all_hematologic(180;0.221)			GBM - Glioblastoma multiforme(119;2.94e-27)|COAD - Colon adenocarcinoma(41;1.4e-05)|Kidney(143;4.95e-05)|KIRC - Kidney renal clear cell carcinoma(143;0.000927)		AAATGGATTATTATACGCTGT	0.423												
GALNTL6	442117	broad.mit.edu	37	4	173730604	173730604	+	Missense_Mutation	SNP	C	C	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr4:173730604C>A	uc003isv.2	+	6	1382	c.646C>A	c.(646-648)CGT>AGT	p.R216S		NM_001034845	NP_001030017	Q49A17	GLTL6_HUMAN	N-acetylgalactosaminyltransferase-like 6	216	Catalytic subdomain A.|Lumenal (Potential).					Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(2)|ovary(1)|skin(1)	4						CATCCGGACCCGTCTCCTGGG	0.517												
SPCS3	60559	broad.mit.edu	37	4	177241279	177241279	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr4:177241279G>A	uc003iur.3	+	1	190	c.52G>A	c.(52-54)GTG>ATG	p.V18M		NM_021928	NP_068747	P61009	SPCS3_HUMAN	signal peptidase complex subunit 3	18	Helical; Signal-anchor for type II membrane protein; (Potential).				energy reserve metabolic process|regulation of insulin secretion|signal peptide processing	integral to membrane|microsome|signal peptidase complex	peptidase activity			ovary(1)	1		Breast(14;0.0011)|Prostate(90;0.0129)|Melanoma(52;0.0133)|Renal(120;0.0376)|all_hematologic(60;0.124)		all cancers(43;2.43e-19)|Epithelial(43;1.84e-16)|OV - Ovarian serous cystadenocarcinoma(60;4.51e-09)|GBM - Glioblastoma multiforme(59;0.000142)|STAD - Stomach adenocarcinoma(60;0.00279)|LUSC - Lung squamous cell carcinoma(193;0.0319)		CTCGCTGAGCGTGATGGCGGC	0.637												
ODZ3	55714	broad.mit.edu	37	4	183664526	183664526	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr4:183664526C>T	uc003ivd.1	+	18	3620	c.3583C>T	c.(3583-3585)CGG>TGG	p.R1195W	ODZ3_uc003ive.1_Missense_Mutation_p.R601W	NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	odz, odd Oz/ten-m homolog 3	1195	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)		CAACTATGTGCGGCGGATATT	0.453												
ODZ3	55714	broad.mit.edu	37	4	183696226	183696226	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr4:183696226A>G	uc003ivd.1	+	23	5261	c.5224A>G	c.(5224-5226)AAC>GAC	p.N1742D		NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	odz, odd Oz/ten-m homolog 3	1742	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)		GCCTGGCGAGAACGGTCAAAA	0.542												
C4orf41	60684	broad.mit.edu	37	4	184614802	184614802	+	Silent	SNP	T	T	C			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr4:184614802T>C	uc003ivx.2	+	21	2474	c.2298T>C	c.(2296-2298)ACT>ACC	p.T766T	C4orf41_uc003ivw.2_Silent_p.T766T|C4orf41_uc010isc.2_Silent_p.T110T|C4orf41_uc003ivy.2_Silent_p.T372T	NM_021942	NP_068761	Q7Z392	CD041_HUMAN	hypothetical protein LOC60684 isoform a	766											0		all_lung(41;4.4e-14)|Lung NSC(41;1.03e-13)|Colorectal(36;0.00139)|all_hematologic(60;0.00756)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_neural(102;0.202)		all cancers(43;1.39e-26)|Epithelial(43;2.42e-22)|OV - Ovarian serous cystadenocarcinoma(60;6.85e-10)|GBM - Glioblastoma multiforme(59;6.71e-06)|Colorectal(24;9.67e-06)|STAD - Stomach adenocarcinoma(60;2.36e-05)|COAD - Colon adenocarcinoma(29;7.07e-05)|LUSC - Lung squamous cell carcinoma(40;0.00984)|READ - Rectum adenocarcinoma(43;0.171)		CTGCACTGACTAATGAAATGT	0.403												
PDLIM3	27295	broad.mit.edu	37	4	186423511	186423511	+	Silent	SNP	G	G	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr4:186423511G>A	uc003ixw.3	-	8	1156	c.1032C>T	c.(1030-1032)CAC>CAT	p.H344H	PDLIM3_uc003ixx.3_Silent_p.H296H|PDLIM3_uc010isi.2_RNA	NM_014476	NP_055291	Q53GG5	PDLI3_HUMAN	PDZ and LIM domain protein 3 isoform a	344	LIM zinc-binding.					sarcomere	zinc ion binding			ovary(2)	2		all_lung(41;1.03e-13)|Lung NSC(41;2.49e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.00996)|Colorectal(36;0.0161)|all_hematologic(60;0.0592)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.4e-10)|BRCA - Breast invasive adenocarcinoma(30;8.64e-05)|GBM - Glioblastoma multiforme(59;0.000167)|STAD - Stomach adenocarcinoma(60;0.000828)|LUSC - Lung squamous cell carcinoma(40;0.00984)|COAD - Colon adenocarcinoma(29;0.0115)|READ - Rectum adenocarcinoma(43;0.171)		GGGCTCTTGCGTGGGTTTCGC	0.498												
MTNR1A	4543	broad.mit.edu	37	4	187454877	187454877	+	Missense_Mutation	SNP	G	G	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr4:187454877G>T	uc003izd.1	-	2	1037	c.1019C>A	c.(1018-1020)ACC>AAC	p.T340N		NM_005958	NP_005949	P48039	MTR1A_HUMAN	melatonin receptor 1A	340	Cytoplasmic (Potential).				circadian rhythm|G-protein signaling, coupled to cyclic nucleotide second messenger|mating behavior	integral to plasma membrane	melatonin receptor activity			ovary(1)|skin(1)|breast(1)|central_nervous_system(1)|pancreas(1)	5		all_cancers(14;6.39e-56)|all_epithelial(14;1.48e-41)|all_lung(41;2.45e-15)|Lung NSC(41;7.26e-15)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00335)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|Renal(120;0.0183)|all_neural(102;0.202)		OV - Ovarian serous cystadenocarcinoma(60;7.63e-12)|BRCA - Breast invasive adenocarcinoma(30;6.68e-07)|GBM - Glioblastoma multiforme(59;3.44e-05)|LUSC - Lung squamous cell carcinoma(40;0.000106)|STAD - Stomach adenocarcinoma(60;0.000279)|READ - Rectum adenocarcinoma(43;0.159)	Melatonin(DB01065)|Ramelteon(DB00980)	ATTATTGTTGGTCATCAGTGG	0.502												
FAT1	2195	broad.mit.edu	37	4	187510305	187510305	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr4:187510305T>C	uc003izf.2	-	27	13396	c.13208A>G	c.(13207-13209)TAT>TGT	p.Y4403C	FAT1_uc010isn.2_Missense_Mutation_p.Y50C|FAT1_uc003ize.2_Missense_Mutation_p.Y294C	NM_005245	NP_005236	Q14517	FAT1_HUMAN	FAT tumor suppressor 1 precursor	4403	Cytoplasmic (Potential).				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			ovary(10)|central_nervous_system(1)|pancreas(1)	12						AATCACCTCATAGTTGGGGAA	0.483										HNSCC(5;0.00058)		
FAT1	2195	broad.mit.edu	37	4	187530973	187530973	+	Silent	SNP	A	A	G			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr4:187530973A>G	uc003izf.2	-	15	10238	c.10050T>C	c.(10048-10050)CTT>CTC	p.L3350L		NM_005245	NP_005236	Q14517	FAT1_HUMAN	FAT tumor suppressor 1 precursor	3350	Extracellular (Potential).|Cadherin 31.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			ovary(10)|central_nervous_system(1)|pancreas(1)	12						CAGACTGCTCAAGAACGGCAT	0.398										HNSCC(5;0.00058)		
FAT1	2195	broad.mit.edu	37	4	187628465	187628465	+	Silent	SNP	A	A	G			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr4:187628465A>G	uc003izf.2	-	2	2705	c.2517T>C	c.(2515-2517)AGT>AGC	p.S839S	FAT1_uc010iso.1_Silent_p.S839S	NM_005245	NP_005236	Q14517	FAT1_HUMAN	FAT tumor suppressor 1 precursor	839	Extracellular (Potential).|Cadherin 7.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			ovary(10)|central_nervous_system(1)|pancreas(1)	12						GGATGATTTCACTATGTACCT	0.453										HNSCC(5;0.00058)		
SLC9A3	6550	broad.mit.edu	37	5	475020	475020	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr5:475020C>T	uc003jbe.2	-	16	2591	c.2479G>A	c.(2479-2481)GCC>ACC	p.A827T	SLC9A3_uc011clx.1_Missense_Mutation_p.A818T|LOC25845_uc003jbd.2_5'Flank|LOC25845_uc010itb.1_5'Flank	NM_004174	NP_004165	P48764	SL9A3_HUMAN	solute carrier family 9 (sodium/hydrogen	827	Cytoplasmic (Potential).					cell surface|integral to membrane	sodium:hydrogen antiporter activity				0			Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)			TCGGGGAGGGCGGCGGGGGGC	0.592												
ADAMTS16	170690	broad.mit.edu	37	5	5146476	5146476	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr5:5146476C>T	uc003jdl.2	+	3	547	c.409C>T	c.(409-411)CAG>TAG	p.Q137*	ADAMTS16_uc003jdk.1_Nonsense_Mutation_p.Q137*|ADAMTS16_uc003jdj.1_Nonsense_Mutation_p.Q137*	NM_139056	NP_620687	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1	137					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(3)|lung(2)|large_intestine(1)|breast(1)|pancreas(1)	8						TAAGTCTGTGCAGACTTTACC	0.522												
CTNND2	1501	broad.mit.edu	37	5	11159846	11159846	+	Silent	SNP	G	G	A	rs149766664	byFrequency	TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr5:11159846G>A	uc003jfa.1	-	12	2146	c.2001C>T	c.(1999-2001)TGC>TGT	p.C667C	CTNND2_uc010itt.2_Silent_p.C576C|CTNND2_uc011cmy.1_Silent_p.C330C|CTNND2_uc011cmz.1_Silent_p.C234C|CTNND2_uc010itu.1_RNA|CTNND2_uc011cmx.1_Silent_p.C234C	NM_001332	NP_001323	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	667					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			large_intestine(2)|ovary(2)|skin(2)|pancreas(1)|lung(1)	8						TGAGTGCATCGCATGAGGAGA	0.483												
DNAH5	1767	broad.mit.edu	37	5	13876895	13876895	+	Silent	SNP	G	G	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr5:13876895G>T	uc003jfd.2	-	22	3336	c.3294C>A	c.(3292-3294)CCC>CCA	p.P1098P		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1098	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1)	31	Lung NSC(4;0.00476)					GCACGGGAATGGGTAAATTTA	0.328									Kartagener_syndrome			
TRIO	7204	broad.mit.edu	37	5	14378154	14378154	+	Missense_Mutation	SNP	G	G	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr5:14378154G>T	uc003jff.2	+	20	3371	c.3365G>T	c.(3364-3366)AGG>ATG	p.R1122M	TRIO_uc003jfg.2_RNA|TRIO_uc011cna.1_Missense_Mutation_p.R1073M|TRIO_uc003jfh.1_Missense_Mutation_p.R771M	NM_007118	NP_009049	O75962	TRIO_HUMAN	triple functional domain (PTPRF interacting)	1122	Spectrin 4.				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)					CGGGAGAACAGGGTATTGCAT	0.458												
TRIO	7204	broad.mit.edu	37	5	14498693	14498693	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr5:14498693G>A	uc003jff.2	+	53	8282	c.8276G>A	c.(8275-8277)TGC>TAC	p.C2759Y	TRIO_uc003jfg.2_RNA	NM_007118	NP_009049	O75962	TRIO_HUMAN	triple functional domain (PTPRF interacting)	2759	Ig-like C2-type.				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)					ATCTACACGTGCATCGCTGTC	0.587												
PRDM9	56979	broad.mit.edu	37	5	23527575	23527575	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr5:23527575G>A	uc003jgo.2	+	11	2560	c.2378G>A	c.(2377-2379)AGT>AAT	p.S793N		NM_020227	NP_064612	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	793	C2H2-type 11.				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			ovary(3)|large_intestine(2)|pancreas(1)	6						AACCTCCTCAGTCACCAGAGG	0.562										HNSCC(3;0.000094)		
RNASEN	29102	broad.mit.edu	37	5	31449427	31449427	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr5:31449427C>T	uc003jhg.2	-	21	3141	c.2782G>A	c.(2782-2784)GGA>AGA	p.G928R	RNASEN_uc003jhh.2_Missense_Mutation_p.G891R|RNASEN_uc003jhi.2_Missense_Mutation_p.G891R	NM_013235	NP_037367	Q9NRR4	RNC_HUMAN	ribonuclease III, nuclear isoform 1	928	Necessary for interaction with DGCR8 and pri-miRNA processing activity.|RNase III 1.				gene silencing by RNA|ribosome biogenesis|RNA processing	nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity				0						TTTCTGTCTCCGTATTTGGGC	0.398												
PDZD2	23037	broad.mit.edu	37	5	31983706	31983706	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr5:31983706C>T	uc003jhl.2	+	3	1310	c.922C>T	c.(922-924)CGC>TGC	p.R308C	PDZD2_uc003jhm.2_Missense_Mutation_p.R308C|PDZD2_uc011cnx.1_Missense_Mutation_p.R134C	NM_178140	NP_835260	O15018	PDZD2_HUMAN	PDZ domain containing 2	308					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				central_nervous_system(4)|ovary(2)|skin(2)|large_intestine(1)	9						CAATGACAAACGCCGCTTCTC	0.493												
TARS	6897	broad.mit.edu	37	5	33467736	33467736	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr5:33467736C>T	uc003jhy.2	+	19	2390	c.2095C>T	c.(2095-2097)CGC>TGC	p.R699C	TARS_uc011cob.1_Missense_Mutation_p.R687C|TARS_uc011coc.1_Missense_Mutation_p.R720C|TARS_uc003jhz.2_Missense_Mutation_p.R595C|TARS_uc011cod.1_Missense_Mutation_p.R578C	NM_152295	NP_689508	P26639	SYTC_HUMAN	threonyl-tRNA synthetase	699					threonyl-tRNA aminoacylation	cytosol	ATP binding|protein homodimerization activity|threonine-tRNA ligase activity			ovary(2)	2					L-Threonine(DB00156)	CCACGGGGAACGCACCATTTC	0.418												
PLCXD3	345557	broad.mit.edu	37	5	41382376	41382376	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr5:41382376T>C	uc003jmm.1	-	2	466	c.364A>G	c.(364-366)AAT>GAT	p.N122D		NM_001005473	NP_001005473	Q63HM9	PLCX3_HUMAN	phosphatidylinositol-specific phospholipase C, X	122	PI-PLC X-box.				intracellular signal transduction|lipid catabolic process		phospholipase C activity|signal transducer activity			skin(2)|urinary_tract(1)|ovary(1)|lung(1)|central_nervous_system(1)	6						AGGCCTTCATTGACTTTGGCA	0.433												
NNT	23530	broad.mit.edu	37	5	43659315	43659315	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr5:43659315G>A	uc003joe.2	+	17	2752	c.2497G>A	c.(2497-2499)GTC>ATC	p.V833I	NNT_uc003jof.2_Missense_Mutation_p.V833I	NM_012343	NP_036475	Q13423	NNTM_HUMAN	nicotinamide nucleotide transhydrogenase	833	Helical; (Potential).				tricarboxylic acid cycle	integral to membrane|mitochondrial respiratory chain	NAD binding|NAD(P)+ transhydrogenase (AB-specific) activity|NAD(P)+ transhydrogenase (B-specific) activity|NADP binding			ovary(2)|central_nervous_system(1)	3	Lung NSC(6;2.58e-06)				NADH(DB00157)	TGACATGCCCGTCGTTATCAC	0.473												
PARP8	79668	broad.mit.edu	37	5	50057724	50057724	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr5:50057724G>A	uc003jon.3	+	7	597	c.415G>A	c.(415-417)GGA>AGA	p.G139R	PARP8_uc011cpz.1_Missense_Mutation_p.G31R|PARP8_uc003joo.2_Missense_Mutation_p.G139R|PARP8_uc003jop.2_Missense_Mutation_p.G139R	NM_024615	NP_078891	Q8N3A8	PARP8_HUMAN	poly (ADP-ribose) polymerase family, member 8	139						intracellular	NAD+ ADP-ribosyltransferase activity			lung(3)|large_intestine(1)|ovary(1)	5		Lung NSC(810;0.0305)|Breast(144;0.222)				ATTTTATTACGGAGGGCAGGT	0.373												
DHX29	54505	broad.mit.edu	37	5	54579187	54579187	+	Silent	SNP	A	A	G			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr5:54579187A>G	uc003jpx.2	-	11	1929	c.1809T>C	c.(1807-1809)ACT>ACC	p.T603T	DHX29_uc010ivw.2_RNA	NM_019030	NP_061903	Q7Z478	DHX29_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 29	603	Helicase ATP-binding.						ATP binding|ATP-dependent helicase activity|translation initiation factor activity			ovary(2)|central_nervous_system(1)|skin(1)	4		Lung NSC(810;4.08e-05)|Breast(144;0.0544)|Prostate(74;0.183)				GTGGTACCTGAGTACTTTTAC	0.413												
GCNT4	51301	broad.mit.edu	37	5	74324987	74324987	+	Silent	SNP	G	G	C			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr5:74324987G>C	uc003kdn.2	-	1	1738	c.876C>G	c.(874-876)CCC>CCG	p.P292P		NM_016591	NP_057675	Q9P109	GCNT4_HUMAN	core 2 beta-1,6-N-acetylglucosaminyltransferase	292	Lumenal (Potential).				protein O-linked glycosylation	Golgi membrane|integral to membrane	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity|N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity			ovary(2)|skin(1)	3		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;8.44e-57)		TGTTATGGGGGGGTGCTTCCT	0.358												
HMGCR	3156	broad.mit.edu	37	5	74643031	74643031	+	Silent	SNP	T	T	C			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr5:74643031T>C	uc003kdp.2	+	6	609	c.453T>C	c.(451-453)GAT>GAC	p.D151D	HMGCR_uc011cst.1_Silent_p.D171D|HMGCR_uc003kdq.2_Silent_p.D151D|HMGCR_uc010izn.1_5'UTR	NM_000859	NP_000850	P04035	HMDH_HUMAN	3-hydroxy-3-methylglutaryl-Coenzyme A reductase	151					cholesterol biosynthetic process|coenzyme A metabolic process|germ cell migration|gonad development|isoprenoid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|peroxisomal membrane	hydroxymethylglutaryl-CoA reductase (NADPH) activity|NADP binding			ovary(1)	1		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174)		OV - Ovarian serous cystadenocarcinoma(47;2.24e-54)	Atorvastatin(DB01076)|Bezafibrate(DB01393)|Cerivastatin(DB00439)|Fluvastatin(DB01095)|Lovastatin(DB00227)|NADH(DB00157)|Pravastatin(DB00175)|Rosuvastatin(DB01098)|Simvastatin(DB00641)	TGTTTTAGGATGAAGTAAGGG	0.358												
ATP6AP1L	92270	broad.mit.edu	37	5	81613882	81613882	+	Silent	SNP	G	G	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr5:81613882G>A	uc003khv.2	+	10	1763	c.438G>A	c.(436-438)TCG>TCA	p.S146S	ATP6AP1L_uc003khw.2_Silent_p.S146S	NM_001017971	NP_001017971	Q52LC2	VAS1L_HUMAN	ATPase, H+ transporting, lysosomal accessory	146					ATP hydrolysis coupled proton transport	integral to membrane|proton-transporting V-type ATPase, V1 domain	hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism				0						CCTCCTTCTCGCCAGCTTTTC	0.537												
RASA1	5921	broad.mit.edu	37	5	86645084	86645084	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr5:86645084T>C	uc003kiw.2	+	8	1274	c.1156T>C	c.(1156-1158)TAT>CAT	p.Y386H	RASA1_uc010jav.2_RNA|RASA1_uc003kix.2_Missense_Mutation_p.Y209H|RASA1_uc011ctv.1_Missense_Mutation_p.Y219H|RASA1_uc011ctw.1_Missense_Mutation_p.Y220H|RASA1_uc010jaw.2_Missense_Mutation_p.Y208H	NM_002890	NP_002881	P20936	RASA1_HUMAN	RAS p21 protein activator 1 isoform 1	386	SH2 2.				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)		TCCTGGCGATTATTCACTTTA	0.358												
POLR3G	10622	broad.mit.edu	37	5	89783832	89783832	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr5:89783832C>T	uc003kjq.2	+	3	333	c.133C>T	c.(133-135)CCA>TCA	p.P45S	POLR3G_uc011cuc.1_Missense_Mutation_p.P45S	NM_006467	NP_006458	O15318	RPC7_HUMAN	polymerase (RNA) III (DNA directed) polypeptide	45					innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|regulation of transcription from RNA polymerase III promoter|response to virus	DNA-directed RNA polymerase III complex	DNA-directed RNA polymerase activity				0		all_cancers(142;5.03e-09)|all_epithelial(76;1.23e-11)|Lung NSC(167;2.46e-05)|all_lung(232;3.25e-05)|Ovarian(174;0.00832)|Colorectal(57;0.122)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(54;2.74e-31)|Epithelial(54;8.2e-26)|all cancers(79;3.86e-22)		AGATTATAAACCAGTGCCACT	0.303												
RFESD	317671	broad.mit.edu	37	5	94991908	94991908	+	Silent	SNP	A	A	G			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr5:94991908A>G	uc003klf.2	+	5	1761	c.369A>G	c.(367-369)ACA>ACG	p.T123T	RFESD_uc003klg.2_Silent_p.T176T|RFESD_uc011cun.1_Silent_p.T176T|SPATA9_uc010jbh.1_Intron|SPATA9_uc003klh.1_Intron|SPATA9_uc003kli.1_Intron	NM_173362	NP_775498	Q8TAC1	RFESD_HUMAN	Rieske (Fe-S) domain containing isoform 2	123	Rieske 2.						2 iron, 2 sulfur cluster binding|metal ion binding|oxidoreductase activity				0		all_cancers(142;0.000215)|all_epithelial(76;7.43e-07)|all_lung(232;0.0318)|Lung NSC(167;0.041)|Ovarian(225;0.051)|Colorectal(57;0.162)		all cancers(79;5.94e-17)		ACACAGTGACAGTAGACAACG	0.383												
ERAP2	64167	broad.mit.edu	37	5	96239120	96239120	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr5:96239120T>C	uc003kmq.2	+	13	2578	c.1868T>C	c.(1867-1869)TTT>TCT	p.F623S	uc003kmo.1_Intron|ERAP2_uc003kmt.2_Missense_Mutation_p.F623S|ERAP2_uc003kmr.2_RNA|ERAP2_uc003kms.2_Missense_Mutation_p.F572S|ERAP2_uc003kmu.2_RNA	NM_022350	NP_071745	Q6P179	ERAP2_HUMAN	endoplasmic reticulum aminopeptidase 2	623	Lumenal (Potential).				antigen processing and presentation of endogenous peptide antigen via MHC class I|proteolysis|regulation of blood pressure	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding				0		all_cancers(142;0.000311)|all_epithelial(76;1.54e-06)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0596)|Ovarian(225;0.105)		COAD - Colon adenocarcinoma(37;0.0703)		TGGGTGAAATTTAATGTGGAC	0.398												
ERAP2	64167	broad.mit.edu	37	5	96253217	96253217	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr5:96253217T>C	uc003kmq.2	+	19	3501	c.2791T>C	c.(2791-2793)TTT>CTT	p.F931L	uc003kmo.1_Intron|ERAP2_uc003kmt.2_Missense_Mutation_p.F931L|ERAP2_uc003kmr.2_RNA|ERAP2_uc003kms.2_Missense_Mutation_p.F880L|ERAP2_uc003kmu.2_RNA	NM_022350	NP_071745	Q6P179	ERAP2_HUMAN	endoplasmic reticulum aminopeptidase 2	931	Lumenal (Potential).				antigen processing and presentation of endogenous peptide antigen via MHC class I|proteolysis|regulation of blood pressure	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding				0		all_cancers(142;0.000311)|all_epithelial(76;1.54e-06)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0596)|Ovarian(225;0.105)		COAD - Colon adenocarcinoma(37;0.0703)		TCTGGATATTTTTCAAACTGT	0.313												
LNPEP	4012	broad.mit.edu	37	5	96362455	96362455	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr5:96362455T>C	uc003kmv.1	+	16	3372	c.2858T>C	c.(2857-2859)GTA>GCA	p.V953A	LNPEP_uc003kmw.1_Missense_Mutation_p.V939A	NM_005575	NP_005566	Q9UIQ6	LCAP_HUMAN	leucyl/cystinyl aminopeptidase isoform 1	953	Extracellular (Potential).				cell-cell signaling|female pregnancy|proteolysis	extracellular region|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			ovary(3)|breast(1)	4		all_cancers(142;7e-07)|all_epithelial(76;9.52e-10)|all_lung(232;0.00101)|Lung NSC(167;0.00137)|Ovarian(225;0.024)|Colorectal(57;0.0269)|Breast(839;0.244)		COAD - Colon adenocarcinoma(37;0.072)		AATAAGCTTGTACAGAAGTAA	0.378												
ST8SIA4	7903	broad.mit.edu	37	5	100191913	100191913	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr5:100191913T>C	uc003knk.2	-	4	1019	c.691A>G	c.(691-693)AAA>GAA	p.K231E		NM_005668	NP_005659	Q92187	SIA8D_HUMAN	ST8 alpha-N-acetyl-neuraminide	231	Lumenal (Potential).				axon guidance|N-glycan processing	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			large_intestine(1)|central_nervous_system(1)	2		all_cancers(142;1.5e-07)|all_epithelial(76;1.43e-10)|Prostate(80;0.000644)|Lung NSC(167;0.0059)|all_lung(232;0.00914)|Ovarian(225;0.024)|Colorectal(57;0.09)|Breast(839;0.203)		COAD - Colon adenocarcinoma(37;0.00402)		TCTCCTCCTTTGACCATGAAA	0.418												
SLCO6A1	133482	broad.mit.edu	37	5	101834428	101834428	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr5:101834428A>G	uc003knn.2	-	1	293	c.121T>C	c.(121-123)TCC>CCC	p.S41P	SLCO6A1_uc003kno.2_Missense_Mutation_p.S41P|SLCO6A1_uc003knp.2_Missense_Mutation_p.S41P|SLCO6A1_uc003knq.2_Missense_Mutation_p.S41P	NM_173488	NP_775759	Q86UG4	SO6A1_HUMAN	solute carrier organic anion transporter family,	41	Cytoplasmic (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)		GGCTTCGAGGACTTCGGGGTT	0.582												
GIN1	54826	broad.mit.edu	37	5	102423850	102423850	+	Missense_Mutation	SNP	C	C	G			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr5:102423850C>G	uc003koa.1	-	8	1403	c.1321G>C	c.(1321-1323)GTA>CTA	p.V441L	GIN1_uc003kob.1_Missense_Mutation_p.V294L|GIN1_uc003koc.1_Missense_Mutation_p.Q222H	NM_017676	NP_060146	Q9NXP7	GIN1_HUMAN	zinc finger, H2C2 domain containing	441					DNA integration		DNA binding			ovary(1)|skin(1)	2		all_cancers(142;3.23e-07)|all_epithelial(76;3.64e-10)|Prostate(80;0.00914)|Ovarian(225;0.0139)|Lung NSC(167;0.0212)|Colorectal(57;0.0249)|all_lung(232;0.0283)		Epithelial(69;3.57e-14)|COAD - Colon adenocarcinoma(37;0.00794)		TCTGCCACTACTGAACCTTGC	0.289												
PPIP5K2	23262	broad.mit.edu	37	5	102519007	102519007	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr5:102519007A>G	uc003kod.3	+	25	3514	c.2995A>G	c.(2995-2997)ACT>GCT	p.T999A	PPIP5K2_uc011cva.1_RNA|PPIP5K2_uc003koe.2_Missense_Mutation_p.T999A|PPIP5K2_uc003kof.2_Intron	NM_015216	NP_056031	O43314	VIP2_HUMAN	Histidine acid phosphatase domain containing 1	999					inositol metabolic process	cytosol	acid phosphatase activity|ATP binding|diphosphoinositol-pentakisphosphate kinase activity|inositol 1,3,4,5,6-pentakisphosphate kinase activity|inositol hexakisphosphate 5-kinase activity			ovary(1)|skin(1)	2						TGGTGTGGGTACTGGGCGTCG	0.512												
FER	2241	broad.mit.edu	37	5	108294945	108294945	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr5:108294945G>A	uc003kop.1	+	13	1937	c.1553G>A	c.(1552-1554)GGC>GAC	p.G518D	FER_uc011cvf.1_RNA|FER_uc011cvg.1_Missense_Mutation_p.G343D	NM_005246	NP_005237	P16591	FER_HUMAN	fer (fps/fes related) tyrosine kinase	518	SH2.				intracellular signal transduction|peptidyl-tyrosine phosphorylation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity			lung(2)|stomach(1)|ovary(1)|kidney(1)	5		all_cancers(142;2.86e-06)|all_epithelial(76;9.81e-08)|Prostate(80;0.00972)|Lung NSC(167;0.039)|Ovarian(225;0.0448)|all_lung(232;0.0496)|Colorectal(57;0.0986)|Breast(839;0.152)		OV - Ovarian serous cystadenocarcinoma(64;6.77e-10)|Epithelial(69;4.13e-08)|COAD - Colon adenocarcinoma(37;0.0174)		CGATTCGAGGGCACTGGGTTT	0.348												
APC	324	broad.mit.edu	37	5	112178834	112178834	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr5:112178834A>G	uc010jby.2	+	16	7923	c.7543A>G	c.(7543-7545)ATA>GTA	p.I2515V	APC_uc011cvt.1_Missense_Mutation_p.I2497V|APC_uc003kpz.3_Missense_Mutation_p.I2515V|APC_uc003kpy.3_Missense_Mutation_p.I2515V|APC_uc010jbz.2_Missense_Mutation_p.I2232V|APC_uc010jca.2_Missense_Mutation_p.I1815V	NM_001127511	NP_001120983	P25054	APC_HUMAN	adenomatous polyposis coli	2515	Ser-rich.				canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	p.?(1)		large_intestine(2123)|stomach(123)|soft_tissue(55)|small_intestine(34)|breast(26)|pancreas(25)|urinary_tract(20)|lung(19)|thyroid(18)|liver(13)|central_nervous_system(10)|ovary(9)|skin(7)|upper_aerodigestive_tract(6)|adrenal_gland(6)|bone(6)|NS(5)|prostate(4)|endometrium(3)|kidney(1)|oesophagus(1)|biliary_tract(1)	2515		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		CAGTCCCACTATAGAGTATAA	0.453		12	D|Mis|N|F|S		colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS	colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS			Hereditary_Desmoid_Disease|Familial_Adenomatous_Polyposis|Turcot_syndrome	TSP Lung(16;0.13)		
FEM1C	56929	broad.mit.edu	37	5	114861055	114861055	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr5:114861055G>T	uc003krb.1	-	3	1366	c.804C>A	c.(802-804)TAC>TAA	p.Y268*		NM_020177	NP_064562	Q96JP0	FEM1C_HUMAN	feminization 1 homolog a	268	TPR 1.					cytoplasm				breast(2)|ovary(1)	3		all_cancers(142;0.000575)|all_epithelial(76;9.98e-06)|Prostate(80;0.00955)|Ovarian(225;0.0443)|all_lung(232;0.132)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;2.5e-07)|Epithelial(69;2.66e-07)|all cancers(49;1.39e-05)		CCTTTTTCCAGTATTTCAAAG	0.398												
FBN2	2201	broad.mit.edu	37	5	127670530	127670530	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr5:127670530T>C	uc003kuu.2	-	31	4419	c.3980A>G	c.(3979-3981)AAT>AGT	p.N1327S	FBN2_uc003kuv.2_Missense_Mutation_p.N1294S	NM_001999	NP_001990	P35556	FBN2_HUMAN	fibrillin 2 precursor	1327	EGF-like 21; calcium-binding.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			ovary(8)|large_intestine(4)|pancreas(1)|kidney(1)|skin(1)	15		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		GTCACATTCATTGACATCTAG	0.348												
ADAMTS19	171019	broad.mit.edu	37	5	128977572	128977572	+	Silent	SNP	A	A	G			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr5:128977572A>G	uc003kvb.1	+	11	1773	c.1773A>G	c.(1771-1773)TTA>TTG	p.L591L	ADAMTS19_uc010jdh.1_RNA	NM_133638	NP_598377	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1	591	Disintegrin.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(5)|breast(2)|lung(1)|skin(1)	9		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		GCACAGGATTATGGTGCAAGG	0.393												
RAPGEF6	51735	broad.mit.edu	37	5	130897705	130897705	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr5:130897705T>C	uc003kvn.1	-	5	523	c.317A>G	c.(316-318)GAT>GGT	p.D106G	RAPGEF6_uc003kvp.1_Missense_Mutation_p.D156G|RAPGEF6_uc003kvo.1_Missense_Mutation_p.D106G|RAPGEF6_uc010jdi.1_Missense_Mutation_p.D106G|RAPGEF6_uc010jdj.1_Missense_Mutation_p.D106G|RAPGEF6_uc003kvr.2_Missense_Mutation_p.D106G|RAPGEF6_uc011cxe.1_RNA|RAPGEF6_uc010jdk.2_Missense_Mutation_p.D106G	NM_016340	NP_057424	Q8TEU7	RPGF6_HUMAN	PDZ domain-containing guanine nucleotide	106					Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction	cytoplasm|plasma membrane	GTP-dependent protein binding|guanyl-nucleotide exchange factor activity|Ras GTPase binding			ovary(1)|lung(1)|central_nervous_system(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		TACAAGACAATCACATCCTCT	0.279												
AFF4	27125	broad.mit.edu	37	5	132216839	132216839	+	Missense_Mutation	SNP	A	A	C			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr5:132216839A>C	uc003kyd.2	-	21	3812	c.3404T>G	c.(3403-3405)ATC>AGC	p.I1135S	AFF4_uc011cxk.1_Missense_Mutation_p.I813S	NM_014423	NP_055238	Q9UHB7	AFF4_HUMAN	ALL1 fused gene from 5q31	1135					transcription from RNA polymerase II promoter	mitochondrion|nucleolus	protein binding|sequence-specific DNA binding transcription factor activity			ovary(2)|kidney(2)|skin(1)	5		all_cancers(142;0.145)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TGCATTAAAGATGAGAGGGCC	0.383												
HSPA4	3308	broad.mit.edu	37	5	132424849	132424849	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr5:132424849T>C	uc003kyj.2	+	10	1521	c.1240T>C	c.(1240-1242)TCA>CCA	p.S414P		NM_002154	NP_002145	P34932	HSP74_HUMAN	heat shock 70kDa protein 4	414					cellular chaperone-mediated protein complex assembly|protein import into mitochondrial outer membrane|response to unfolded protein	cytoplasm|nucleus	ATP binding			lung(1)|breast(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TGAAGAAGGGTCAAGGTATCA	0.328												
PHF15	23338	broad.mit.edu	37	5	133914438	133914438	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr5:133914438G>A	uc003kzo.1	+	11	1983	c.1804G>A	c.(1804-1806)GCC>ACC	p.A602T	PHF15_uc011cxt.1_Missense_Mutation_p.A646T|PHF15_uc003kzk.2_Missense_Mutation_p.A662T|PHF15_uc003kzl.2_3'UTR|PHF15_uc003kzm.2_Missense_Mutation_p.A603T|PHF15_uc003kzn.2_3'UTR	NM_015288	NP_056103	Q9NQC1	JADE2_HUMAN	PHD finger protein 15	602	Pro-rich.				histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation	histone acetyltransferase complex	zinc ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CCGCCTGCCTGCCAAGAAGAA	0.657												
DND1	373863	broad.mit.edu	37	5	140052333	140052333	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr5:140052333C>T	uc003lgt.2	-	3	345	c.301G>A	c.(301-303)GCC>ACC	p.A101T		NM_194249	NP_919225	Q8IYX4	DND1_HUMAN	dead end homolog 1	101	RRM 1.				multicellular organismal development|negative regulation of gene silencing by miRNA	cytoplasm|nucleus	AU-rich element binding|nucleotide binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGGGCATAGGCGAAGCCGCGG	0.692												
PCDHA1	56147	broad.mit.edu	37	5	140167327	140167327	+	Silent	SNP	G	G	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr5:140167327G>A	uc003lhb.2	+	1	1452	c.1452G>A	c.(1450-1452)GCG>GCA	p.A484A	PCDHA1_uc003lha.2_Silent_p.A484A|PCDHA1_uc003lgz.2_Silent_p.A484A	NM_018900	NP_061723	Q9Y5I3	PCDA1_HUMAN	protocadherin alpha 1 isoform 1 precursor	484	Cadherin 5.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding			skin(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACGCGGACGCGCAGGAGAACG	0.662												
PCDHA1	56147	broad.mit.edu	37	5	140167916	140167916	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr5:140167916C>T	uc003lhb.2	+	1	2041	c.2041C>T	c.(2041-2043)CGG>TGG	p.R681W	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lgz.2_Missense_Mutation_p.R681W	NM_018900	NP_061723	Q9Y5I3	PCDA1_HUMAN	protocadherin alpha 1 isoform 1 precursor	681	Extracellular (Potential).				homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding			skin(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCGTCTTCGCGGGCGTCGGT	0.657												
PCDHA8	56140	broad.mit.edu	37	5	140222665	140222665	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr5:140222665G>A	uc003lhs.2	+	1	1759	c.1759G>A	c.(1759-1761)GCG>ACG	p.A587T	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhr.1_Missense_Mutation_p.A587T	NM_018911	NP_061734	Q9Y5H6	PCDA8_HUMAN	protocadherin alpha 8 isoform 1 precursor	587	Cadherin 6.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			upper_aerodigestive_tract(1)|ovary(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTCTGTGGGCGCGGGCCACGT	0.677												
PCDHA8	56140	broad.mit.edu	37	5	140223022	140223022	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr5:140223022G>A	uc003lhs.2	+	1	2116	c.2116G>A	c.(2116-2118)GCG>ACG	p.A706T	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhr.1_Missense_Mutation_p.A706T	NM_018911	NP_061734	Q9Y5H6	PCDA8_HUMAN	protocadherin alpha 8 isoform 1 precursor	706	Helical; (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			upper_aerodigestive_tract(1)|ovary(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCCATCTGCGCGGTATCCAG	0.657												
PCDHA11	56138	broad.mit.edu	37	5	140249146	140249146	+	Missense_Mutation	SNP	C	C	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr5:140249146C>A	uc003lia.2	+	1	1316	c.458C>A	c.(457-459)CCA>CAA	p.P153Q	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.P153Q	NM_018902	NP_061725	Q9Y5I1	PCDAB_HUMAN	protocadherin alpha 11 isoform 1 precursor	153	Extracellular (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)			TCGCGTTTTCCACTAGAGGGA	0.443												
PCDHA12	56137	broad.mit.edu	37	5	140256640	140256640	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr5:140256640T>C	uc003lic.2	+	1	1710	c.1583T>C	c.(1582-1584)CTG>CCG	p.L528P	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc011daf.1_Missense_Mutation_p.L528P	NM_018903	NP_061726	Q9UN75	PCDAC_HUMAN	protocadherin alpha 12 isoform 1 precursor	528	Cadherin 5.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CACGAGGAGCTGGAGCTGCTG	0.687												
PCDHA12	56137	broad.mit.edu	37	5	140256803	140256803	+	Silent	SNP	G	G	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr5:140256803G>A	uc003lic.2	+	1	1873	c.1746G>A	c.(1744-1746)CCG>CCA	p.P582P	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc011daf.1_Silent_p.P582P	NM_018903	NP_061726	Q9UN75	PCDAC_HUMAN	protocadherin alpha 12 isoform 1 precursor	582	Cadherin 6.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGTTGGTACCGCGGTCGGTGG	0.677												
PCDHB6	56130	broad.mit.edu	37	5	140531520	140531520	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr5:140531520A>G	uc003lir.2	+	1	1682	c.1682A>G	c.(1681-1683)TAC>TGC	p.Y561C	PCDHB6_uc011dah.1_Missense_Mutation_p.Y425C	NM_018939	NP_061762	Q9Y5E3	PCDB6_HUMAN	protocadherin beta 6 precursor	561	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)			TTCGTGTTGTACCCGCTGCAG	0.726												
PCDHB7	56129	broad.mit.edu	37	5	140554460	140554460	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr5:140554460A>G	uc003lit.2	+	1	2218	c.2044A>G	c.(2044-2046)AAC>GAC	p.N682D	PCDHB8_uc011dai.1_5'Flank	NM_018940	NP_061763	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7 precursor	682	Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|central_nervous_system(1)|skin(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGACCAGGCCAACTCGCTCAC	0.706												
PCDHB7	56129	broad.mit.edu	37	5	140554465	140554465	+	Silent	SNP	G	G	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr5:140554465G>T	uc003lit.2	+	1	2223	c.2049G>T	c.(2047-2049)TCG>TCT	p.S683S	PCDHB8_uc011dai.1_5'Flank	NM_018940	NP_061763	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7 precursor	683	Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|central_nervous_system(1)|skin(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGGCCAACTCGCTCACCGTCT	0.706												
PCDHB7	56129	broad.mit.edu	37	5	140554522	140554522	+	Silent	SNP	G	G	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr5:140554522G>A	uc003lit.2	+	1	2280	c.2106G>A	c.(2104-2106)TCG>TCA	p.S702S	PCDHB8_uc011dai.1_5'Flank	NM_018940	NP_061763	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7 precursor	702	Helical; (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|central_nervous_system(1)|skin(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCCTCCTCTCGGTGCTCCTGT	0.701												
PCDHB8	56128	broad.mit.edu	37	5	140559519	140559519	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr5:140559519A>G	uc011dai.1	+	1	2090	c.1904A>G	c.(1903-1905)GAC>GGC	p.D635G	PCDHB16_uc003liv.2_5'Flank|PCDHB16_uc010jfw.1_5'Flank	NM_019120	NP_061993	Q9UN66	PCDB8_HUMAN	protocadherin beta 8 precursor	635	Cadherin 6.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			skin(4)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGCGAGCGCGACGCGGCCAAG	0.687												
PCDHB11	56125	broad.mit.edu	37	5	140581561	140581561	+	Silent	SNP	C	C	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr5:140581561C>T	uc003liy.2	+	1	2214	c.2214C>T	c.(2212-2214)GAC>GAT	p.D738D	PCDHB11_uc011daj.1_Silent_p.D373D	NM_018931	NP_061754	Q9Y5F2	PCDBB_HUMAN	protocadherin beta 11 precursor	738	Cytoplasmic (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			skin(3)|ovary(2)|upper_aerodigestive_tract(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ATCTGGTGGACGTGAGCGGCA	0.612												
PCDHB14	56122	broad.mit.edu	37	5	140605248	140605248	+	Missense_Mutation	SNP	G	G	A	rs142658705		TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr5:140605248G>A	uc003ljb.2	+	1	2171	c.2171G>A	c.(2170-2172)CGC>CAC	p.R724H	PCDHB14_uc011dal.1_Missense_Mutation_p.R571H	NM_018934	NP_061757	Q9Y5E9	PCDBE_HUMAN	protocadherin beta 14 precursor	724	Cytoplasmic (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCGGTGGGTCGCTGCTCGGTG	0.662												
PCDHGA6	56109	broad.mit.edu	37	5	140755541	140755541	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr5:140755541G>A	uc003ljy.1	+	1	1891	c.1891G>A	c.(1891-1893)GCC>ACC	p.A631T	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_uc011dau.1_Missense_Mutation_p.A631T	NM_018919	NP_061742	Q9Y5G7	PCDG6_HUMAN	protocadherin gamma subfamily A, 6 isoform 1	631	Extracellular (Potential).|Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CACGGCGCGCGCCCTGCTGGA	0.697												
PCDHGB6	56100	broad.mit.edu	37	5	140788117	140788117	+	Silent	SNP	T	T	C			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr5:140788117T>C	uc003lkj.1	+	1	348	c.348T>C	c.(346-348)ATT>ATC	p.I116I	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_uc003lki.1_Silent_p.I116I	NM_018926	NP_061749	Q9Y5F9	PCDGI_HUMAN	protocadherin gamma subfamily B, 6 isoform 1	116	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)			CTTTAAATATTTTTCATGTCA	0.373												
PCDHGC3	5098	broad.mit.edu	37	5	140857618	140857618	+	Silent	SNP	G	G	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr5:140857618G>A	uc003lkv.1	+	1	2050	c.1935G>A	c.(1933-1935)ACG>ACA	p.T645T	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkn.1_Intron|PCDHGA11_uc003lkp.1_Intron|PCDHGA11_uc003lkq.1_Intron|PCDHGA12_uc003lkt.1_Intron|PCDHGC3_uc003lku.1_Silent_p.T645T|PCDHGC3_uc003lkw.1_Intron	NM_002588	NP_002579	Q9UN70	PCDGK_HUMAN	protocadherin gamma subfamily C, 3 isoform 1	645	Extracellular (Potential).|Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(1)|skin(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGACTCTCACGGTCTTGATCA	0.557											OREG0016865	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
PCDH12	51294	broad.mit.edu	37	5	141331071	141331071	+	Missense_Mutation	SNP	G	G	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr5:141331071G>T	uc003llx.2	-	2	4176	c.2965C>A	c.(2965-2967)CCA>ACA	p.P989T		NM_016580	NP_057664	Q9NPG4	PCD12_HUMAN	protocadherin 12 precursor	989	Cytoplasmic (Potential).				neuron recognition	integral to plasma membrane	calcium ion binding			ovary(3)	3		all_hematologic(541;0.0999)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGCCTCCTGGCTTGGCCAAG	0.567											OREG0016877	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
RNF14	9604	broad.mit.edu	37	5	141354463	141354463	+	Nonsense_Mutation	SNP	T	T	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr5:141354463T>A	uc003lly.2	+	3	288	c.249T>A	c.(247-249)TAT>TAA	p.Y83*	RNF14_uc003llz.2_Nonsense_Mutation_p.Y83*|RNF14_uc003lma.2_Nonsense_Mutation_p.Y83*|RNF14_uc003lmb.2_Intron|RNF14_uc003lmc.2_Nonsense_Mutation_p.Y83*|RNF14_uc011dbg.1_Nonsense_Mutation_p.Y83*|RNF14_uc011dbh.1_Intron|RNF14_uc003lmd.2_Nonsense_Mutation_p.Y83*	NM_183399	NP_899646	Q9UBS8	RNF14_HUMAN	ring finger protein 14 isoform 1	83	RWD.				androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|protein ubiquitination|regulation of androgen receptor signaling pathway|regulation of transcription from RNA polymerase II promoter|response to estradiol stimulus|transcription, DNA-dependent	cytoplasm|nucleus	androgen receptor binding|small conjugating protein ligase activity|transcription coactivator activity|zinc ion binding				0		all_hematologic(541;0.0536)|Ovarian(839;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.0407)		CACCAGATTATCCATCCTCTT	0.413												
POU4F3	5459	broad.mit.edu	37	5	145719546	145719546	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr5:145719546G>A	uc003loa.2	+	2	645	c.556G>A	c.(556-558)GAG>AAG	p.E186K		NM_002700	NP_002691	Q15319	PO4F3_HUMAN	POU class 4 homeobox 3	186	POU-specific.				sensory perception of sound|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AGACCCGCGCGAGCTGGAAGC	0.682												
STK32A	202374	broad.mit.edu	37	5	146750335	146750335	+	Splice_Site	SNP	T	T	C			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr5:146750335T>C	uc010jgn.1	+	9	1057	c.777_splice	c.e9+2	p.K259_splice	STK32A_uc003lom.2_Splice_Site_p.K259_splice|STK32A_uc011dbw.1_Splice_Site_p.K259_splice	NM_001112724	NP_001106195	Q8WU08	ST32A_HUMAN	serine/threonine kinase 32A isoform 1								ATP binding|metal ion binding|protein serine/threonine kinase activity			lung(2)|skin(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTTAAAAAGGTAAGAAGGAAG	0.418												
AFAP1L1	134265	broad.mit.edu	37	5	148687114	148687114	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr5:148687114C>T	uc003lqh.2	+	7	816	c.685C>T	c.(685-687)CGG>TGG	p.R229W	AFAP1L1_uc003lqg.3_Missense_Mutation_p.R229W|AFAP1L1_uc010jgy.2_Missense_Mutation_p.R229W	NM_152406	NP_689619	Q8TED9	AF1L1_HUMAN	actin filament associated protein 1-like 1	229	PH 1.						protein binding			breast(1)|pancreas(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTTCCTGCTGCGGAAAAAGCG	0.632												
NDST1	3340	broad.mit.edu	37	5	149907475	149907475	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr5:149907475A>G	uc003lsk.3	+	3	1125	c.623A>G	c.(622-624)TAC>TGC	p.Y208C	NDST1_uc011dcj.1_Missense_Mutation_p.Y208C|NDST1_uc003lsl.2_Missense_Mutation_p.Y208C	NM_001543	NP_001534	P52848	NDST1_HUMAN	N-deacetylase/N-sulfotransferase (heparan	208	Heparan sulfate N-deacetylase 1.|Lumenal (Potential).				heparan sulfate proteoglycan biosynthetic process|inflammatory response	Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			breast(1)|skin(1)	2		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCGCTGCTCTACGTGACGCGA	0.607												
SYNPO	11346	broad.mit.edu	37	5	150029196	150029196	+	Silent	SNP	C	C	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr5:150029196C>A	uc003lsn.2	+	3	2465	c.2091C>A	c.(2089-2091)GCC>GCA	p.A697A	SYNPO_uc003lso.3_Silent_p.A453A|SYNPO_uc003lsp.2_Silent_p.A453A	NM_001109974	NP_001103444	Q8N3V7	SYNPO_HUMAN	synaptopodin isoform B	697					positive regulation of actin filament bundle assembly|regulation of stress fiber assembly	actin cytoskeleton|cytoplasm|dendritic spine|perikaryon|postsynaptic density|postsynaptic membrane|tight junction	actin binding|protein binding			large_intestine(1)	1		Medulloblastoma(196;0.134)|all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CAGAGTGGGCCTCCTGCCTCA	0.687												
SLC36A2	153201	broad.mit.edu	37	5	150696535	150696535	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr5:150696535T>C	uc003lty.2	-	10	1425	c.1295A>G	c.(1294-1296)TAC>TGC	p.Y432C	GM2A_uc011dcs.1_Intron|SLC36A2_uc003ltz.2_RNA|SLC36A2_uc003lua.2_Missense_Mutation_p.Y234C	NM_181776	NP_861441	Q495M3	S36A2_HUMAN	solute carrier family 36, member 2	432	Cytoplasmic (Potential).				cellular nitrogen compound metabolic process	cytoplasm|integral to membrane|plasma membrane	glycine transmembrane transporter activity			ovary(1)|central_nervous_system(1)	2		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GCCCTCTGAGTAGAACGTGGT	0.647												
FAT2	2196	broad.mit.edu	37	5	150948143	150948143	+	Missense_Mutation	SNP	A	A	C	rs34180611		TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr5:150948143A>C	uc003lue.3	-	1	363	c.350T>G	c.(349-351)CTC>CGC	p.L117R	GM2A_uc011dcs.1_Intron|FAT2_uc010jhx.1_Missense_Mutation_p.L117R	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	FAT tumor suppressor 2 precursor	117	Extracellular (Potential).|Cadherin 1.				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)			TTGGATGATGAGGGTGTAGCT	0.512												
GABRG2	2566	broad.mit.edu	37	5	161522524	161522524	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr5:161522524G>A	uc003lyz.3	+	3	641	c.283G>A	c.(283-285)GAC>AAC	p.D95N	GABRG2_uc010jjc.2_Missense_Mutation_p.D95N|GABRG2_uc003lyy.3_Missense_Mutation_p.D95N|GABRG2_uc011dej.1_5'UTR	NM_000816	NP_000807	P18507	GBRG2_HUMAN	gamma-aminobutyric acid A receptor, gamma 2	95	Extracellular (Probable).				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding			ovary(4)|skin(1)	5	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)		AATTCACACAGACATGTATGT	0.328												
CCDC99	54908	broad.mit.edu	37	5	169023668	169023669	+	Missense_Mutation	DNP	AT	AT	GC			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr5:169023668_169023669AT>GC	uc003mae.3	+	8	1274_1275	c.995_996AT>GC	c.(994-996)CAT>CGC	p.H332R	CCDC99_uc010jjj.2_Missense_Mutation_p.H261R|CCDC99_uc011deq.1_Missense_Mutation_p.H149R|CCDC99_uc010jjk.2_Missense_Mutation_p.H58R	NM_017785	NP_060255	Q96EA4	SPDLY_HUMAN	coiled-coil domain containing 99	332	Potential.				cell division|establishment of mitotic spindle orientation|mitotic metaphase plate congression|mitotic prometaphase|protein localization to kinetochore	condensed chromosome outer kinetochore|cytosol|microtubule organizing center|nucleus|spindle pole	kinetochore binding|protein binding			ovary(1)|liver(1)	2	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GAAATAAAACATCTTTTAGGTG	0.337												
TLX3	30012	broad.mit.edu	37	5	170736470	170736470	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr5:170736470C>T	uc003mbf.2	+	1	183	c.101C>T	c.(100-102)GCC>GTC	p.A34V	uc003mbe.1_5'Flank	NM_021025	NP_066305	O43711	TLX3_HUMAN	T-cell leukemia homeobox 3	34						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)	1	Renal(175;0.000159)|Lung NSC(126;0.00576)|all_lung(126;0.00963)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			AGCGCACCCGCCCCGCGGGGC	0.756			T	BCL11B	T-ALL							
STC2	8614	broad.mit.edu	37	5	172750372	172750372	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr5:172750372C>T	uc003mco.1	-	3	1666	c.356G>A	c.(355-357)GGC>GAC	p.G119D	STC2_uc003mcn.1_Missense_Mutation_p.G34D	NM_003714	NP_003705	O76061	STC2_HUMAN	stanniocalcin 2 precursor	119					cell surface receptor linked signaling pathway|cell-cell signaling	extracellular region	hormone activity			skin(2)|ovary(1)	3	Renal(175;0.000159)|Lung NSC(126;0.00229)|all_lung(126;0.004)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|Ovarian(839;0.223)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			GCTTATGCAGCCGAACCTGTG	0.602												
FAF2	23197	broad.mit.edu	37	5	175923649	175923649	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr5:175923649C>T	uc003mej.3	+	8	877	c.824C>T	c.(823-825)TCA>TTA	p.S275L		NM_014613	NP_055428	Q96CS3	FAF2_HUMAN	UBX domain containing 8	275	Potential.				response to unfolded protein	endoplasmic reticulum|lipid particle	protein binding			ovary(1)	1						TACCTGGTGTCAGAACGCCTA	0.488												
NSD1	64324	broad.mit.edu	37	5	176638979	176638979	+	Silent	SNP	T	T	C			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr5:176638979T>C	uc003mfr.3	+	5	3717	c.3579T>C	c.(3577-3579)AGT>AGC	p.S1193S	NSD1_uc003mft.3_Silent_p.S924S|NSD1_uc003mfs.1_Silent_p.S1090S|NSD1_uc011dfx.1_Silent_p.S841S	NM_022455	NP_071900	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	1193					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			ovary(2)|kidney(1)	3	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	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;0.198)	Kidney(146;0.235)		TACTTCCTAGTGACCCTGTGC	0.478			T	NUP98	AML		Sotos Syndrome		Beckwith-Wiedemann_syndrome|Sotos_syndrome|Weaver_syndrome	HNSCC(47;0.14)		
PDLIM7	9260	broad.mit.edu	37	5	176919648	176919648	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr5:176919648C>T	uc003mhc.1	-	3	212	c.127G>A	c.(127-129)GGA>AGA	p.G43R	PDLIM7_uc003mha.1_5'Flank|PDLIM7_uc003mhb.1_Missense_Mutation_p.G43R|PDLIM7_uc003mhd.1_5'UTR|PDLIM7_uc003mhe.1_RNA|PDLIM7_uc003mhf.2_Missense_Mutation_p.G43R|PDLIM7_uc003mhg.1_Missense_Mutation_p.G43R	NM_005451	NP_005442	Q9NR12	PDLI7_HUMAN	PDZ and LIM domain 7 isoform 1	43	PDZ.				cell differentiation|multicellular organismal development|ossification|receptor-mediated endocytosis	cytoplasm|focal adhesion	protein binding|zinc ion binding			breast(1)	1	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)			ACGGCCACTCCGGCCTGCGCC	0.642												
ZNF354A	6940	broad.mit.edu	37	5	178152390	178152390	+	Silent	SNP	G	G	A	rs113512483	byFrequency	TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr5:178152390G>A	uc003mjj.2	-	4	441	c.243C>T	c.(241-243)GGC>GGT	p.G81G		NM_005649	NP_005640	O60765	Z354A_HUMAN	zinc finger protein 354A	81	KRAB.				regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)|skin(1)	3	all_cancers(89;0.000536)|Renal(175;0.000159)|all_epithelial(37;0.000221)|Lung NSC(126;0.00308)|all_lung(126;0.00536)	all_cancers(40;0.0452)|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;0.185)		GAGAGGAGACGCCAGAACCGT	0.522												
TBC1D9B	23061	broad.mit.edu	37	5	179321503	179321503	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr5:179321503C>T	uc003mlh.2	-	4	497	c.460G>A	c.(460-462)GAG>AAG	p.E154K	TBC1D9B_uc003mli.2_Missense_Mutation_p.E154K|TBC1D9B_uc003mlj.2_Missense_Mutation_p.E154K	NM_198868	NP_942568	Q66K14	TBC9B_HUMAN	TBC1 domain family, member 9B (with GRAM domain)	154	GRAM 1.					integral to membrane|intracellular	calcium ion binding|Rab GTPase activator activity			breast(1)|skin(1)	2	all_cancers(89;0.000197)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0236)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ACCAGCTTCTCGCCCTCAGGC	0.592												
FLT4	2324	broad.mit.edu	37	5	180057235	180057235	+	Missense_Mutation	SNP	G	G	A	rs148392893		TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr5:180057235G>A	uc003mma.3	-	4	582	c.503C>T	c.(502-504)ACG>ATG	p.T168M	FLT4_uc003mlz.3_Missense_Mutation_p.T168M|FLT4_uc003mmb.1_5'Flank|FLT4_uc011dgy.1_Missense_Mutation_p.T168M|FLT4_uc011dgz.1_Missense_Mutation_p.T168M|FLT4_uc011dha.1_Missense_Mutation_p.R152C	NM_002020	NP_002011	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4 isoform 2	168	Ig-like C2-type 2.|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)	CGAGCGCAGCGTGACATTGAG	0.642									Congenital_Hereditary_Lymphedema			
BTNL8	79908	broad.mit.edu	37	5	180338563	180338563	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr5:180338563A>G	uc003mmp.2	+	3	856	c.622A>G	c.(622-624)ATG>GTG	p.M208V	BTNL8_uc003mmq.2_Missense_Mutation_p.M208V|BTNL8_uc011dhg.1_Missense_Mutation_p.M83V|BTNL8_uc010jll.2_Missense_Mutation_p.M208V|BTNL8_uc010jlm.2_Missense_Mutation_p.M92V|BTNL8_uc011dhh.1_Missense_Mutation_p.M24V	NM_001040462	NP_001035552	Q6UX41	BTNL8_HUMAN	butyrophilin-like 8 isoform 2 precursor	208	Ig-like V-type 2.|Extracellular (Potential).					integral to membrane				upper_aerodigestive_tract(1)|skin(1)	2	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ATCCTGTTCCATGCGGCATGC	0.542												
RREB1	6239	broad.mit.edu	37	6	7226755	7226755	+	Missense_Mutation	SNP	G	G	A	rs138181401	byFrequency	TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr6:7226755G>A	uc003mxc.2	+	9	1153	c.763G>A	c.(763-765)GCG>ACG	p.A255T	RREB1_uc003mxb.2_Missense_Mutation_p.A255T|RREB1_uc010jnx.2_Missense_Mutation_p.A255T	NM_001003698	NP_001003698	Q92766	RREB1_HUMAN	ras responsive element binding protein 1 isoform	255	C2H2-type 5.				multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding			ovary(4)|large_intestine(2)|pancreas(2)|skin(2)|breast(1)	11	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				GCGTCACAACGCGCTTGTCCA	0.493												
DSP	1832	broad.mit.edu	37	6	7558359	7558359	+	Missense_Mutation	SNP	A	A	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr6:7558359A>T	uc003mxp.1	+	3	563	c.284A>T	c.(283-285)TAT>TTT	p.Y95F	DSP_uc003mxq.1_Missense_Mutation_p.Y95F	NM_004415	NP_004406	P15924	DESP_HUMAN	desmoplakin isoform I	95	Globular 1.|Interacts with plakophilin 1 and junction plakoglobin.				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)		GAATTGAAGTATGGAGATGGA	0.428												
PHACTR1	221692	broad.mit.edu	37	6	13230285	13230285	+	Silent	SNP	G	G	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr6:13230285G>A	uc010jpc.2	+	10	1583	c.1251G>A	c.(1249-1251)AAG>AAA	p.K417K	PHACTR1_uc011dir.1_Silent_p.K486K|PHACTR1_uc003nag.1_Silent_p.K417K|PHACTR1_uc003nah.1_Silent_p.K417K	NM_030948	NP_112210	Q9C0D0	PHAR1_HUMAN	phosphatase and actin regulator 1	417						cell junction|cytoplasm|synapse	actin binding|protein phosphatase inhibitor activity				0	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)			TGGCCATGAAGGTCTGCAGGA	0.532												
GFOD1	54438	broad.mit.edu	37	6	13365589	13365589	+	Missense_Mutation	SNP	G	G	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr6:13365589G>T	uc003nat.1	-	2	1224	c.559C>A	c.(559-561)CTC>ATC	p.L187I	GFOD1_uc003nas.1_Missense_Mutation_p.L84I	NM_018988	NP_061861	Q9NXC2	GFOD1_HUMAN	glucose-fructose oxidoreductase domain	187						extracellular region	binding|oxidoreductase activity			ovary(2)	2	Breast(50;0.0296)|Ovarian(93;0.0454)	all_hematologic(90;0.135)	Epithelial(50;0.0348)|BRCA - Breast invasive adenocarcinoma(129;0.1)|all cancers(50;0.108)			TGGCCGGTGAGGAAGGTGAGC	0.602												
KIF13A	63971	broad.mit.edu	37	6	17764503	17764503	+	Missense_Mutation	SNP	A	A	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr6:17764503A>T	uc003ncg.3	-	39	5361	c.5256T>A	c.(5254-5256)GAT>GAA	p.D1752E	KIF13A_uc003ncf.2_Missense_Mutation_p.D1704E|KIF13A_uc003nch.3_Missense_Mutation_p.D1717E|KIF13A_uc003nci.3_Missense_Mutation_p.D1704E|KIF13A_uc003nce.1_Missense_Mutation_p.D303E	NM_022113	NP_071396	Q9H1H9	KI13A_HUMAN	kinesin family member 13A isoform a	1752					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)			CAGCAGAAGAATCTGTCAAAC	0.493												
KIF13A	63971	broad.mit.edu	37	6	17764689	17764689	+	Silent	SNP	G	G	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr6:17764689G>A	uc003ncg.3	-	39	5175	c.5070C>T	c.(5068-5070)TCC>TCT	p.S1690S	KIF13A_uc003ncf.2_Silent_p.S1642S|KIF13A_uc003nch.3_Silent_p.S1655S|KIF13A_uc003nci.3_Silent_p.S1642S|KIF13A_uc003nce.1_Silent_p.S241S	NM_022113	NP_071396	Q9H1H9	KI13A_HUMAN	kinesin family member 13A isoform a	1690					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)			ACAGTGATTTGGAGTTTTTCT	0.522												
NHLRC1	378884	broad.mit.edu	37	6	18122645	18122645	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr6:18122645C>T	uc003ncl.1	-	1	207	c.193G>A	c.(193-195)GCC>ACC	p.A65T		NM_198586	NP_940988	Q6VVB1	NHLC1_HUMAN	NHL repeat containing 1	65	RING-type.				proteasomal ubiquitin-dependent protein catabolic process|protein polyubiquitination	endoplasmic reticulum|nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding				0	Ovarian(93;0.016)|Breast(50;0.0245)	all_hematologic(90;0.165)	all cancers(50;0.0451)|Epithelial(50;0.0493)			CACTCGAGGGCCAGAGTGCGC	0.716												
KDM1B	221656	broad.mit.edu	37	6	18208394	18208394	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr6:18208394T>C	uc003nco.1	+	10	1289	c.1214T>C	c.(1213-1215)GTG>GCG	p.V405A	KDM1B_uc003ncn.1_Missense_Mutation_p.V376A	NM_153042	NP_694587	Q8NB78	KDM1B_HUMAN	amine oxidase (flavin containing) domain 1	608					multicellular organismal development|regulation of DNA methylation|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-monomethyl-K4 specific)|oxidoreductase activity|zinc ion binding			skin(1)	1						GGAGATGAAGTGCAGGTTACC	0.468												
TDP2	51567	broad.mit.edu	37	6	24651211	24651211	+	Silent	SNP	A	A	G			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr6:24651211A>G	uc003nej.2	-	7	919	c.894T>C	c.(892-894)GAT>GAC	p.D298D	TDP2_uc003nei.2_Silent_p.D186D	NM_016614	NP_057698	O95551	TYDP2_HUMAN	TRAF and TNF receptor-associated protein	298					cell surface receptor linked signaling pathway|double-strand break repair	PML body	5'-tyrosyl-DNA phosphodiesterase activity|magnesium ion binding|nuclease activity|protein binding|transcription corepressor activity			ovary(1)|lung(1)	2						TCATTTGTGTATCCCATGTAT	0.408								Direct_reversal_of_damage|Editing_and_processing_nucleases				
HIST1H4A	8359	broad.mit.edu	37	6	26022123	26022123	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr6:26022123T>C	uc003nfq.2	+	1	217	c.217T>C	c.(217-219)TAT>CAT	p.Y73H		NM_003538	NP_003529	P62805	H4_HUMAN	histone cluster 1, H4a	73					CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding				0						CGCTGTCACCTATACGGAGCA	0.587												
HIST1H4G	8369	broad.mit.edu	37	6	26246947	26246947	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr6:26246947C>T	uc003nhf.2	-	1	259	c.259G>A	c.(259-261)GTG>ATG	p.V87M		NM_003547	NP_003538	Q99525	H4G_HUMAN	histone cluster 1, H4g	87					nucleosome assembly	nucleosome|nucleus	DNA binding				0		all_hematologic(11;0.0945)|Acute lymphoblastic leukemia(11;0.167)				ACGTAGACCACGGCCATGGCG	0.572												
ABT1	29777	broad.mit.edu	37	6	26598259	26598259	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr6:26598259G>A	uc003nii.2	+	2	390	c.359G>A	c.(358-360)CGC>CAC	p.R120H		NM_013375	NP_037507	Q9ULW3	ABT1_HUMAN	activator of basal transcription 1	120	RRM.				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleolus	DNA binding|nucleotide binding|protein binding|RNA binding|transcription coactivator activity			ovary(1)	1						ATAGCCAAGCGCGTGGCGGCC	0.567												
HIST1H4I	8294	broad.mit.edu	37	6	27107159	27107159	+	Silent	SNP	C	C	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr6:27107159C>T	uc003niy.1	+	1	72	c.72C>T	c.(70-72)CGC>CGT	p.R24R	HIST1H2BK_uc003nix.1_Intron	NM_003495	NP_003486	P62805	H4_HUMAN	histone cluster 1, H4i	24					CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding			lung(1)	1						AGGTGCTGCGCGACAACATCC	0.617			T	BCL6	NHL							
HIST1H2BK	85236	broad.mit.edu	37	6	27114460	27114460	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr6:27114460C>T	uc003nix.1	-	1	160	c.118G>A	c.(118-120)GTA>ATA	p.V40I	HIST1H2AH_uc003niz.2_5'Flank|hsa-mir-3143|MI0014167_5'Flank	NM_080593	NP_542160	O60814	H2B1K_HUMAN	histone cluster 1, H2bk	40					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding				0						TACACGTATACGGAGTAGCTC	0.582												
ZKSCAN3	80317	broad.mit.edu	37	6	28333883	28333883	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr6:28333883T>C	uc003nle.3	+	6	1654	c.1438T>C	c.(1438-1440)TAT>CAT	p.Y480H	ZKSCAN3_uc010jrc.2_Missense_Mutation_p.Y480H|ZKSCAN3_uc003nlf.3_Missense_Mutation_p.Y332H|uc010jrd.2_5'Flank	NM_024493	NP_077819	Q9BRR0	ZKSC3_HUMAN	zinc finger with KRAB and SCAN domains 3	480	C2H2-type 6.				positive regulation of transcription, DNA-dependent|viral reproduction	nucleus	chromatin binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			skin(2)	2						TCCCATGTCTTATAAATGTAA	0.418												
SCAND3	114821	broad.mit.edu	37	6	28540949	28540949	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr6:28540949C>T	uc003nlo.2	-	4	3335	c.2717G>A	c.(2716-2718)TGC>TAC	p.C906Y		NM_052923	NP_443155	Q6R2W3	SCND3_HUMAN	SCAN domain containing 3	906					DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			ovary(1)	1						aatatctctgcattcatcaag	0												
OR14J1	442191	broad.mit.edu	37	6	29274633	29274633	+	Missense_Mutation	SNP	C	C	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr6:29274633C>A	uc011dln.1	+	1	167	c.167C>A	c.(166-168)CCC>CAC	p.P56H		NM_030946	NP_112208	Q9UGF5	O14J1_HUMAN	olfactory receptor, family 5, subfamily U member	56	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1						CTCCATTCCCCCATGTATTAC	0.468												
TRIM39	56658	broad.mit.edu	37	6	30297302	30297302	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr6:30297302C>T	uc010jrz.2	+	3	520	c.208C>T	c.(208-210)CGA>TGA	p.R70*	HCG18_uc003npx.2_5'Flank|HCG18_uc003npy.2_5'Flank|TRIM39_uc003npz.2_Nonsense_Mutation_p.R70*|TRIM39_uc003nqb.2_Nonsense_Mutation_p.R70*|TRIM39_uc003nqc.2_Nonsense_Mutation_p.R70*|TRIM39_uc010jsa.1_Nonsense_Mutation_p.R70*	NM_021253	NP_067076	Q9HCM9	TRI39_HUMAN	tripartite motif-containing 39 isoform 1	70	RING-type.				apoptosis	cytosol|mitochondrion	identical protein binding|zinc ion binding			ovary(3)	3						TCCTGTCTGTCGAAAGACATC	0.557												
HLA-E	3133	broad.mit.edu	37	6	30459108	30459108	+	Missense_Mutation	SNP	G	G	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr6:30459108G>T	uc003nqg.2	+	4	843	c.805G>T	c.(805-807)GTG>TTG	p.V269L	HLA-E_uc011dmg.1_RNA|HLA-E_uc011dmh.1_Missense_Mutation_p.V310L	NM_005516	NP_005507	P13747	HLAE_HUMAN	major histocompatibility complex, class I, E	269	Ig-like C1-type.|Alpha-3.|Extracellular (Potential).				antigen processing and presentation of peptide antigen via MHC class I|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			central_nervous_system(4)|ovary(1)	5						GGCAGCTGTGGTGGTGCCTTC	0.627												
PSORS1C2	170680	broad.mit.edu	37	6	31105997	31105997	+	Missense_Mutation	SNP	G	G	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr6:31105997G>T	uc003nso.3	-	2	466	c.142C>A	c.(142-144)CCA>ACA	p.P48T	PSORS1C1_uc003nsl.1_Intron|PSORS1C1_uc010jsj.1_Intron|PSORS1C1_uc003nsn.1_Intron	NM_014069	NP_054788	Q9UIG4	PS1C2_HUMAN	SPR1 protein precursor	48						extracellular region					0						CCGGGGACTGGGGGGCCCTGA	0.657												
SLC44A4	80736	broad.mit.edu	37	6	31838664	31838664	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr6:31838664C>T	uc010jti.2	-	10	928	c.862G>A	c.(862-864)GCC>ACC	p.A288T	SLC44A4_uc011dol.1_Missense_Mutation_p.A212T|SLC44A4_uc011dom.1_Missense_Mutation_p.A246T	NM_025257	NP_079533	Q53GD3	CTL4_HUMAN	choline transporter-like protein 4	288	Extracellular (Potential).					integral to membrane|plasma membrane	choline transmembrane transporter activity			large_intestine(2)|ovary(1)|central_nervous_system(1)	4					Choline(DB00122)	GAGATGGAGGCGCCCTTGTCC	0.657												
SLC44A4	80736	broad.mit.edu	37	6	31838702	31838702	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr6:31838702T>C	uc010jti.2	-	10	890	c.824A>G	c.(823-825)TAC>TGC	p.Y275C	SLC44A4_uc011dol.1_Missense_Mutation_p.Y199C|SLC44A4_uc011dom.1_Missense_Mutation_p.Y233C	NM_025257	NP_079533	Q53GD3	CTL4_HUMAN	choline transporter-like protein 4	275	Extracellular (Potential).					integral to membrane|plasma membrane	choline transmembrane transporter activity			large_intestine(2)|ovary(1)|central_nervous_system(1)	4					Choline(DB00122)	CTCCCAGCAGTAGTAGATGCC	0.617												
CFB	629	broad.mit.edu	37	6	31916154	31916154	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr6:31916154G>A	uc003nyj.3	+	7	1179	c.901G>A	c.(901-903)GCA>ACA	p.A301T	CFB_uc011dor.1_Missense_Mutation_p.A803T|CFB_uc003nyi.2_Missense_Mutation_p.A301T	NM_001710	NP_001701	P00751	CFAB_HUMAN	complement factor B preproprotein	301	VWFA.				complement activation, alternative pathway|proteolysis	extracellular region|plasma membrane	complement binding|serine-type endopeptidase activity			skin(1)	1						CCCACAGGTGGCAAGTTATGG	0.473												
TNXB	7148	broad.mit.edu	37	6	32015707	32015707	+	Silent	SNP	C	C	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr6:32015707C>A	uc003nzl.2	-	30	10324	c.10122G>T	c.(10120-10122)ACG>ACT	p.T3374T	TNXB_uc003nzg.1_5'Flank|TNXB_uc003nzh.1_5'Flank	NM_019105	NP_061978	P22105	TENX_HUMAN	tenascin XB isoform 1 precursor	3421	Fibronectin type-III 26.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding				0						CCTCAGGGACCGTCCACGAGA	0.632												
SLC39A7	7922	broad.mit.edu	37	6	33170162	33170162	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr6:33170162G>A	uc003odf.2	+	5	874	c.757G>A	c.(757-759)GCT>ACT	p.A253T	RXRB_uc003odb.2_5'Flank|RXRB_uc003odc.2_5'Flank|RXRB_uc003odd.2_5'Flank|RXRB_uc011dqr.1_5'Flank|RXRB_uc011dqs.1_5'Flank|RXRB_uc011dqt.1_5'Flank|RXRB_uc011dqu.1_5'Flank|SLC39A7_uc003odg.2_Missense_Mutation_p.A253T|SLC39A7_uc011dqv.1_Missense_Mutation_p.A128T|SLC39A7_uc003odh.2_5'UTR|HSD17B8_uc003odi.1_5'Flank	NM_001077516	NP_001070984	Q92504	S39A7_HUMAN	solute carrier family 39, member 7	253	His-rich.					endoplasmic reticulum membrane|integral to membrane|membrane fraction	protein binding|zinc ion transmembrane transporter activity			large_intestine(1)	1						ACATGGACACGCTCACAGTCA	0.493												
CPNE5	57699	broad.mit.edu	37	6	36710137	36710137	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr6:36710137G>A	uc003omr.1	-	21	1757	c.1690C>T	c.(1690-1692)CGC>TGC	p.R564C	CPNE5_uc003omp.1_Missense_Mutation_p.R272C|CPNE5_uc010jwn.1_Missense_Mutation_p.R214C|CPNE5_uc003omq.1_Missense_Mutation_p.R214C	NM_020939	NP_065990	Q9HCH3	CPNE5_HUMAN	copine V	564										skin(1)	1						GGACGCGGGCGAATGCCCTGT	0.687												
KCNK5	8645	broad.mit.edu	37	6	39159204	39159204	+	Missense_Mutation	SNP	G	G	A	rs145388113		TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr6:39159204G>A	uc003oon.2	-	5	1326	c.962C>T	c.(961-963)ACG>ATG	p.T321M		NM_003740	NP_003731	O95279	KCNK5_HUMAN	potassium channel, subfamily K, member 5	321	Cytoplasmic (Potential).				excretion	integral to plasma membrane	potassium channel activity|voltage-gated ion channel activity			central_nervous_system(1)|skin(1)	2						GCCCGGGCCCGTCTCCCCACC	0.622												
TRERF1	55809	broad.mit.edu	37	6	42236421	42236421	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr6:42236421G>A	uc003osd.2	-	5	1471	c.908C>T	c.(907-909)CCG>CTG	p.P303L	TRERF1_uc011duq.1_Missense_Mutation_p.P303L|TRERF1_uc003osb.2_Missense_Mutation_p.P142L|TRERF1_uc003osc.2_Missense_Mutation_p.P142L|TRERF1_uc003ose.2_Missense_Mutation_p.P303L	NM_033502	NP_277037	Q96PN7	TREF1_HUMAN	transcriptional regulating factor 1	303	Gln-rich.				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)			ctgctgTGGCGGCGGCTGTGG	0.438												
TRERF1	55809	broad.mit.edu	37	6	42237177	42237177	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr6:42237177G>A	uc003osd.2	-	5	715	c.152C>T	c.(151-153)TCG>TTG	p.S51L	TRERF1_uc011duq.1_Missense_Mutation_p.S51L|TRERF1_uc003osb.2_Intron|TRERF1_uc003osc.2_Intron|TRERF1_uc003ose.2_Missense_Mutation_p.S51L	NM_033502	NP_277037	Q96PN7	TREF1_HUMAN	transcriptional regulating factor 1	51					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)			GGAGATTGGCGAGGCCTGAGG	0.577												
KLC4	89953	broad.mit.edu	37	6	43034086	43034086	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr6:43034086A>G	uc003otv.1	+	5	691	c.614A>G	c.(613-615)TAT>TGT	p.Y205C	KLC4_uc003otr.1_RNA|KLC4_uc011dvd.1_Missense_Mutation_p.Y128C|KLC4_uc003otu.2_Missense_Mutation_p.Y205C|KLC4_uc003otw.1_Missense_Mutation_p.Y223C|KLC4_uc003otx.1_Missense_Mutation_p.Y205C|KLC4_uc003oty.1_Missense_Mutation_p.Y205C|KLC4_uc003otz.1_Missense_Mutation_p.Y205C	NM_201521	NP_958929	Q9NSK0	KLC4_HUMAN	kinesin-like 8 isoform a	205						cytoplasm|kinesin complex|microtubule	microtubule motor activity|protein binding			skin(3)|ovary(1)	4			all cancers(41;0.00169)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0376)|KIRC - Kidney renal clear cell carcinoma(2;0.0453)			CAGGGTGGATATGAGATCCCA	0.547												
ZNF318	24149	broad.mit.edu	37	6	43325431	43325431	+	Silent	SNP	G	G	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr6:43325431G>A	uc003oux.2	-	3	699	c.621C>T	c.(619-621)TCC>TCT	p.S207S	ZNF318_uc003ouw.2_RNA	NM_014345	NP_055160	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	207					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding			ovary(3)|breast(2)|central_nervous_system(1)|skin(1)	7			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			CTTCCTCCTGGGAAATATATC	0.473												
GPR116	221395	broad.mit.edu	37	6	46826498	46826498	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr6:46826498A>G	uc003oyo.3	-	17	3431	c.3142T>C	c.(3142-3144)TAT>CAT	p.Y1048H	GPR116_uc011dwj.1_Missense_Mutation_p.Y603H|GPR116_uc011dwk.1_Missense_Mutation_p.Y477H|GPR116_uc003oyp.3_Missense_Mutation_p.Y906H|GPR116_uc003oyq.3_Missense_Mutation_p.Y1048H|GPR116_uc010jzi.1_Missense_Mutation_p.Y720H	NM_001098518	NP_001091988	Q8IZF2	GP116_HUMAN	G-protein coupled receptor 116 precursor	1048	Cytoplasmic (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|skin(1)	2			Lung(136;0.192)			TGGCGCATATAAGAAGTCCGG	0.507												
GPR115	221393	broad.mit.edu	37	6	47682692	47682692	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr6:47682692G>A	uc003oza.1	+	6	1969	c.1711G>A	c.(1711-1713)GCT>ACT	p.A571T	GPR115_uc003oyz.1_Missense_Mutation_p.A628T|GPR115_uc003ozb.1_Missense_Mutation_p.A569T	NM_153838	NP_722580	Q8IZF3	GP115_HUMAN	G-protein coupled receptor 115 precursor	571	Helical; Name=5; (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(3)|skin(3)|upper_aerodigestive_tract(1)|breast(1)	8						CGTCATTGTGGCTGTAAATCT	0.478												
TINAG	27283	broad.mit.edu	37	6	54214656	54214656	+	Missense_Mutation	SNP	A	A	G	rs149134126		TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr6:54214656A>G	uc003pcj.2	+	7	1188	c.1042A>G	c.(1042-1044)ATC>GTC	p.I348V	TINAG_uc010jzt.2_RNA	NM_014464	NP_055279	Q9UJW2	TINAG_HUMAN	tubulointerstitial nephritis antigen	348					cell adhesion|immune response|Malpighian tubule morphogenesis|proteolysis	basement membrane	cysteine-type endopeptidase activity|nucleotide binding|polysaccharide binding|scavenger receptor activity			ovary(3)|central_nervous_system(1)	4	Lung NSC(77;0.0518)		LUSC - Lung squamous cell carcinoma(124;0.246)			ATCTAACAGGATCTATCAATG	0.433												
BMP5	653	broad.mit.edu	37	6	55620351	55620351	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr6:55620351G>A	uc003pcq.2	-	7	2057	c.1345C>T	c.(1345-1347)CGC>TGC	p.R449C	BMP5_uc011dxf.1_Missense_Mutation_p.R412C	NM_021073	NP_066551	P22003	BMP5_HUMAN	bone morphogenetic protein 5 preproprotein	449					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)			CCACATGAGCGTACTACCATA	0.328												
DST	667	broad.mit.edu	37	6	56358915	56358915	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr6:56358915G>A	uc003pdf.2	-	77	13958	c.13930C>T	c.(13930-13932)CAG>TAG	p.Q4644*	DST_uc003pcz.3_Nonsense_Mutation_p.Q4466*|DST_uc011dxj.1_Nonsense_Mutation_p.Q4495*|DST_uc011dxk.1_Nonsense_Mutation_p.Q4506*|DST_uc003pcy.3_Nonsense_Mutation_p.Q4140*|DST_uc003pda.3_5'Flank	NM_001144769	NP_001138241	Q03001	DYST_HUMAN	dystonin isoform 2	6552	Spectrin 16.				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)			GCAAGCATCTGCTGGCCTTTC	0.378												
DST	667	broad.mit.edu	37	6	56362821	56362821	+	Missense_Mutation	SNP	A	A	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr6:56362821A>T	uc003pdf.2	-	75	13598	c.13570T>A	c.(13570-13572)TCC>ACC	p.S4524T	DST_uc003pcz.3_Missense_Mutation_p.S4346T|DST_uc011dxj.1_Missense_Mutation_p.S4375T|DST_uc011dxk.1_Missense_Mutation_p.S4386T|DST_uc003pcy.3_Missense_Mutation_p.S4020T	NM_001144769	NP_001138241	Q03001	DYST_HUMAN	dystonin isoform 2	6432	Spectrin 15.				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)			TCCACTGTGGACTGATGGGCT	0.353												
ZNF451	26036	broad.mit.edu	37	6	57012429	57012429	+	Missense_Mutation	SNP	C	C	T	rs113698145		TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr6:57012429C>T	uc003pdm.1	+	10	1770	c.1546C>T	c.(1546-1548)CAC>TAC	p.H516Y	ZNF451_uc003pdl.2_Missense_Mutation_p.H516Y|ZNF451_uc003pdn.1_Missense_Mutation_p.H516Y|uc003pdq.1_Intron|ZNF451_uc003pdk.1_Missense_Mutation_p.H516Y	NM_001031623	NP_001026794	Q9Y4E5	ZN451_HUMAN	zinc finger protein 451 isoform 1	516	C2H2-type 5.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			ovary(1)|pancreas(1)	2	Lung NSC(77;0.145)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			CATTCGTTTACACATGAGCCG	0.408												
PRIM2	5558	broad.mit.edu	37	6	57190736	57190736	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr6:57190736C>T	uc003pdx.2	+	5	439	c.352C>T	c.(352-354)CGC>TGC	p.R118C	PRIM2_uc003pdv.1_Missense_Mutation_p.R118C|PRIM2_uc003pdw.2_Missense_Mutation_p.R118C	NM_000947	NP_000938	P49643	PRI2_HUMAN	DNA primase polypeptide 2	118					DNA replication, synthesis of RNA primer|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|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	alpha DNA polymerase:primase complex|nucleoplasm	4 iron, 4 sulfur cluster binding|DNA binding|DNA primase activity|metal ion binding				0				Colorectal(6;0.041)|READ - Rectum adenocarcinoma(7;0.193)		AGAACTTAGACGCTGGTTCAT	0.289												
KHDRBS2	202559	broad.mit.edu	37	6	62604724	62604724	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr6:62604724G>A	uc003peg.2	-	6	873	c.626C>T	c.(625-627)GCC>GTC	p.A209V		NM_152688	NP_689901	Q5VWX1	KHDR2_HUMAN	KH domain-containing, RNA-binding, signal	209					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	SH3 domain binding			skin(7)|ovary(3)|liver(1)	11				BRCA - Breast invasive adenocarcinoma(397;0.149)		AGGAGGAATGGCACCCCCACG	0.542												
FAM135A	57579	broad.mit.edu	37	6	71233735	71233735	+	Missense_Mutation	SNP	C	C	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr6:71233735C>A	uc003pfj.2	+	12	1302	c.1169C>A	c.(1168-1170)CCC>CAC	p.P390H	FAM135A_uc003pfi.2_Missense_Mutation_p.P390H|FAM135A_uc003pfh.2_Missense_Mutation_p.P373H|FAM135A_uc003pfk.2_Missense_Mutation_p.P416H|FAM135A_uc003pfl.2_Missense_Mutation_p.P253H|FAM135A_uc003pfn.2_Missense_Mutation_p.P16H|FAM135A_uc003pfo.1_5'Flank	NM_001162529	NP_001156001	Q9P2D6	F135A_HUMAN	hypothetical protein LOC57579 isoform c	390										central_nervous_system(1)	1						TCTCTTCCACCCTTACCTATT	0.343												
B3GAT2	135152	broad.mit.edu	37	6	71603902	71603902	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr6:71603902A>G	uc003pfv.2	-	2	1321	c.665T>C	c.(664-666)GTG>GCG	p.V222A	B3GAT2_uc011dxz.1_RNA|B3GAT2_uc003pfw.2_Missense_Mutation_p.V222A	NM_080742	NP_542780	Q9NPZ5	B3GA2_HUMAN	beta-1,3-glucuronyltransferase 2	222	Lumenal (Potential).				carbohydrate biosynthetic process	Golgi membrane|integral to membrane	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity|metal ion binding			ovary(2)|haematopoietic_and_lymphoid_tissue(1)	3						GCCGTTTTCCACCAGCGGACG	0.557												
OGFRL1	79627	broad.mit.edu	37	6	72003284	72003284	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr6:72003284T>C	uc003pfx.1	+	3	533	c.370T>C	c.(370-372)TAT>CAT	p.Y124H		NM_024576	NP_078852	Q5TC84	OGRL1_HUMAN	opioid growth factor receptor-like 1	124						membrane	receptor activity				0						TCTTCGTTTTTATAAGAATAA	0.299												
C6orf221	154288	broad.mit.edu	37	6	74073542	74073542	+	Silent	SNP	C	C	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr6:74073542C>A	uc003pgt.3	+	3	666	c.613C>A	c.(613-615)CGG>AGG	p.R205R		NM_001017361	NP_001017361	Q587J8	ECAT1_HUMAN	hypothetical protein LOC154288	205										skin(2)	2						AGTGACCCAGCGGTTTCGCGA	0.617												
COL12A1	1303	broad.mit.edu	37	6	75799923	75799923	+	Silent	SNP	T	T	C			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr6:75799923T>C	uc003phs.2	-	63	9010	c.8844A>G	c.(8842-8844)GGA>GGG	p.G2948G	COL12A1_uc003pht.2_Silent_p.G1784G	NM_004370	NP_004361	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1 long isoform	2948	Triple-helical region (COL1) with 2 imperfections.				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						TACCAGGAGGTCCCGGTGGAC	0.617												
COL12A1	1303	broad.mit.edu	37	6	75833999	75833999	+	Silent	SNP	G	G	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr6:75833999G>T	uc003phs.2	-	41	6862	c.6696C>A	c.(6694-6696)TCC>TCA	p.S2232S	COL12A1_uc003pht.2_Silent_p.S1068S	NM_004370	NP_004361	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1 long isoform	2232	Fibronectin type-III 18.				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						TTAGCCTGTAGGAGGTGGCTG	0.368												
PHIP	55023	broad.mit.edu	37	6	79675723	79675723	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr6:79675723C>T	uc003pir.2	-	28	3482	c.3256G>A	c.(3256-3258)GAA>AAA	p.E1086K	PHIP_uc003piq.2_Missense_Mutation_p.E110K|PHIP_uc011dyp.1_Missense_Mutation_p.E1085K|PHIP_uc003pio.3_5'UTR	NM_017934	NP_060404	Q8WWQ0	PHIP_HUMAN	pleckstrin homology domain interacting protein	1086	Mediates interaction with IRS1 (By similarity).				insulin receptor signaling pathway|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis	nucleus	insulin receptor binding			large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)|ovary(1)	6		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)		BRCA - Breast invasive adenocarcinoma(397;0.231)		TCCTGGCTTTCGATTGTTCCA	0.418												
IBTK	25998	broad.mit.edu	37	6	82883120	82883120	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr6:82883120T>C	uc003pjl.1	-	27	4288	c.3761A>G	c.(3760-3762)AAC>AGC	p.N1254S	IBTK_uc011dyu.1_Missense_Mutation_p.N205S|IBTK_uc011dyv.1_Missense_Mutation_p.N1239S|IBTK_uc011dyw.1_Missense_Mutation_p.N1053S|IBTK_uc010kbi.1_Missense_Mutation_p.N948S	NM_015525	NP_056340	Q9P2D0	IBTK_HUMAN	inhibitor of Bruton's tyrosine kinase	1254					negative regulation of protein phosphorylation|release of sequestered calcium ion into cytosol	cytoplasm|membrane|nucleus	protein kinase binding|protein tyrosine kinase inhibitor activity			ovary(2)|central_nervous_system(2)	4		all_cancers(76;3.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.0037)		BRCA - Breast invasive adenocarcinoma(397;0.0901)		TGAAATATGGTTGCCTTCTGG	0.368												
DOPEY1	23033	broad.mit.edu	37	6	83847804	83847804	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr6:83847804A>G	uc003pjs.1	+	21	4303	c.4043A>G	c.(4042-4044)GAC>GGC	p.D1348G	DOPEY1_uc011dyy.1_Missense_Mutation_p.D1339G|DOPEY1_uc010kbl.1_Missense_Mutation_p.D1339G|DOPEY1_uc003pjt.2_RNA	NM_015018	NP_055833	Q5JWR5	DOP1_HUMAN	dopey family member 1	1348					protein transport					ovary(2)|breast(1)|central_nervous_system(1)	4		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		ATTGAGAGTGACATGGGTTCT	0.408												
TBX18	9096	broad.mit.edu	37	6	85446535	85446535	+	Silent	SNP	C	C	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr6:85446535C>A	uc003pkl.1	-	8	1692	c.1692G>T	c.(1690-1692)ACG>ACT	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												
ZNF292	23036	broad.mit.edu	37	6	87964552	87964552	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr6:87964552C>T	uc003plm.3	+	8	1246	c.1205C>T	c.(1204-1206)GCG>GTG	p.A402V		NM_015021	NP_055836	O60281	ZN292_HUMAN	zinc finger protein 292	402					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(4)	4		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		ACAGTAGATGCGTATTATGCT	0.368												
ANKRD6	22881	broad.mit.edu	37	6	90312801	90312801	+	Silent	SNP	C	C	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr6:90312801C>T	uc003pni.3	+	4	614	c.273C>T	c.(271-273)ATC>ATT	p.I91I	ANKRD6_uc003pne.3_Silent_p.I91I|ANKRD6_uc003pnf.3_Silent_p.I91I|ANKRD6_uc011dzy.1_Silent_p.I91I|ANKRD6_uc010kcd.2_Silent_p.I91I|LYRM2_uc010kce.1_Intron|LYRM2_uc003png.2_RNA|ANKRD6_uc003pnh.3_5'UTR	NM_014942	NP_055757	Q9Y2G4	ANKR6_HUMAN	ankyrin repeat domain 6	91	ANK 3.						protein binding			ovary(2)|pancreas(1)	3		all_cancers(76;1.22e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.79e-07)|all_epithelial(107;1.83e-05)|Lung NSC(302;0.239)		BRCA - Breast invasive adenocarcinoma(108;0.0209)		CGGAGATCATCGCGGCGCTCA	0.612												
MDN1	23195	broad.mit.edu	37	6	90380703	90380703	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr6:90380703T>C	uc003pnn.1	-	83	14007	c.13891A>G	c.(13891-13893)ACT>GCT	p.T4631A		NM_014611	NP_055426	Q9NU22	MDN1_HUMAN	MDN1, midasin homolog	4631					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)		CTACGGTGAGTTGCTAAAGAC	0.537												
MDN1	23195	broad.mit.edu	37	6	90394665	90394665	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr6:90394665T>C	uc003pnn.1	-	71	11875	c.11759A>G	c.(11758-11760)TAC>TGC	p.Y3920C		NM_014611	NP_055426	Q9NU22	MDN1_HUMAN	MDN1, midasin homolog	3920					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)		GAATTGCTTGTAATAATGGTA	0.408												
BACH2	60468	broad.mit.edu	37	6	90659999	90659999	+	Missense_Mutation	SNP	C	C	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr6:90659999C>A	uc011eab.1	-	7	2635	c.1826G>T	c.(1825-1827)AGG>ATG	p.R609M	BACH2_uc003pnw.2_Missense_Mutation_p.R609M|BACH2_uc010kch.2_Missense_Mutation_p.R609M	NM_021813	NP_068585	Q9BYV9	BACH2_HUMAN	BTB and CNC homology 1, basic leucine zipper	609						nucleus	protein dimerization activity|sequence-specific DNA binding			ovary(3)|pancreas(1)|lung(1)|skin(1)	6		all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063)		BRCA - Breast invasive adenocarcinoma(108;0.0799)		CTCCTGGCCCCTGTCCTGCAC	0.537												
BACH2	60468	broad.mit.edu	37	6	90660239	90660239	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr6:90660239G>A	uc011eab.1	-	7	2395	c.1586C>T	c.(1585-1587)GCG>GTG	p.A529V	BACH2_uc003pnw.2_Missense_Mutation_p.A529V|BACH2_uc010kch.2_Missense_Mutation_p.A529V	NM_021813	NP_068585	Q9BYV9	BACH2_HUMAN	BTB and CNC homology 1, basic leucine zipper	529						nucleus	protein dimerization activity|sequence-specific DNA binding			ovary(3)|pancreas(1)|lung(1)|skin(1)	6		all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063)		BRCA - Breast invasive adenocarcinoma(108;0.0799)		CCCGTCCTCCGCGTAGGAATA	0.622												
SFRS18	25957	broad.mit.edu	37	6	99849046	99849046	+	Missense_Mutation	SNP	T	T	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr6:99849046T>A	uc003ppo.3	-	12	2016	c.1788A>T	c.(1786-1788)AGA>AGT	p.R596S	SFRS18_uc003ppl.2_Missense_Mutation_p.R142S|SFRS18_uc003ppp.3_Missense_Mutation_p.R596S|SFRS18_uc011eag.1_Missense_Mutation_p.R596S	NM_032870	NP_116259	Q8TF01	PNISR_HUMAN	splicing factor, arginine/serine-rich 130	596						nuclear speck					0		all_cancers(76;1.24e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.00716)|Colorectal(196;0.0691)|Lung NSC(302;0.186)		BRCA - Breast invasive adenocarcinoma(108;0.0631)		TTCTATTAGATCTCCTTCTAT	0.423												
MICAL1	64780	broad.mit.edu	37	6	109771647	109771647	+	Silent	SNP	T	T	C			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr6:109771647T>C	uc003ptj.2	-	7	1301	c.1047A>G	c.(1045-1047)CTA>CTG	p.L349L	MICAL1_uc003ptk.2_Silent_p.L349L|MICAL1_uc010kdr.2_Intron|MICAL1_uc011eaq.1_Silent_p.L368L	NM_022765	NP_073602	Q8TDZ2	MICA1_HUMAN	microtubule associated monoxygenase, calponin	349					cytoskeleton organization|signal transduction	cytoplasm|intermediate filament	SH3 domain binding|zinc ion binding			breast(2)|ovary(1)	3		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)		Epithelial(106;0.0142)|all cancers(137;0.0197)|OV - Ovarian serous cystadenocarcinoma(136;0.0233)|BRCA - Breast invasive adenocarcinoma(108;0.0574)		GGGCAAACTCTAGTTTCCCGA	0.592												
GPR6	2830	broad.mit.edu	37	6	110300985	110300985	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr6:110300985C>T	uc011eaw.1	+	2	850	c.670C>T	c.(670-672)CGC>TGC	p.R224C	GPR6_uc011eav.1_Missense_Mutation_p.R239C|GPR6_uc003ptu.2_Missense_Mutation_p.R224C	NM_005284	NP_005275	P46095	GPR6_HUMAN	G protein-coupled receptor 6	224	Extracellular (Potential).					integral to plasma membrane					0		all_cancers(87;1.64e-05)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;2.83e-05)|all_lung(197;0.00016)|Lung NSC(302;0.000318)|Colorectal(196;0.0488)		BRCA - Breast invasive adenocarcinoma(108;8.01e-05)|Epithelial(106;8.76e-05)|all cancers(137;0.000197)|OV - Ovarian serous cystadenocarcinoma(136;0.0307)		CCCGCTGGCGCGCAGCCACGT	0.701												
AMD1	262	broad.mit.edu	37	6	111210137	111210137	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr6:111210137T>C	uc003puk.1	+	3	597	c.275T>C	c.(274-276)GTT>GCT	p.V92A	AMD1_uc011eay.1_Missense_Mutation_p.V23A|AMD1_uc011eaz.1_Missense_Mutation_p.V63A|AMD1_uc011eba.1_Intron|AMD1_uc003pul.1_Intron	NM_001634	NP_001625	P17707	DCAM_HUMAN	adenosylmethionine decarboxylase 1 isoform 1	92					spermidine biosynthetic process|spermine biosynthetic process	cytosol	adenosylmethionine decarboxylase activity			upper_aerodigestive_tract(1)	1		all_cancers(87;3.83e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00225)|Colorectal(196;0.0209)		OV - Ovarian serous cystadenocarcinoma(136;0.0522)|Epithelial(106;0.111)|all cancers(137;0.143)	S-Adenosylmethionine(DB00118)	AAAGCACTGGTTCCCCTGTTG	0.393												
ROS1	6098	broad.mit.edu	37	6	117710733	117710733	+	Silent	SNP	A	A	G			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr6:117710733A>G	uc003pxp.1	-	12	1738	c.1539T>C	c.(1537-1539)GAT>GAC	p.D513D	ROS1_uc011ebi.1_RNA|GOPC_uc003pxq.1_Intron	NM_002944	NP_002935	P08922	ROS_HUMAN	proto-oncogene c-ros-1 protein precursor	513	Extracellular (Potential).				transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity			lung(8)|ovary(6)|central_nervous_system(3)|skin(3)|stomach(2)|breast(2)|large_intestine(1)	25		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		TGACCTTGCCATCTGTGACAA	0.423			T	GOPC|ROS1	glioblastoma|NSCLC							
GJA1	2697	broad.mit.edu	37	6	121768887	121768887	+	Silent	SNP	C	C	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr6:121768887C>T	uc003pyr.2	+	2	1144	c.894C>T	c.(892-894)TGC>TGT	p.C298C	GJA1_uc011ebo.1_Silent_p.C199C|GJA1_uc011ebp.1_Silent_p.C86C	NM_000165	NP_000156	P17302	CXA1_HUMAN	connexin 43	298	Cytoplasmic (Potential).				cell-cell signaling|cellular membrane organization|gap junction assembly|heart development|muscle contraction|positive regulation of I-kappaB kinase/NF-kappaB cascade	connexon complex|Golgi-associated vesicle membrane|integral to plasma membrane|membrane raft	ion transmembrane transporter activity|signal transducer activity			ovary(2)	2				GBM - Glioblastoma multiforme(226;0.00252)	Carvedilol(DB01136)	ATTCTTCTTGCCGCAATTACA	0.498												
TPD52L1	7164	broad.mit.edu	37	6	125541281	125541281	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr6:125541281A>G	uc003pzu.1	+	2	296	c.77A>G	c.(76-78)GAC>GGC	p.D26G	TPD52L1_uc003pzv.1_Missense_Mutation_p.D26G|TPD52L1_uc003pzw.1_Missense_Mutation_p.D26G|TPD52L1_uc003pzx.1_5'UTR|TPD52L1_uc003pzy.1_5'UTR|TPD52L1_uc003pzz.1_5'UTR	NM_003287	NP_003278	Q16890	TPD53_HUMAN	tumor protein D52-like 1 isoform 1	26	Potential.				DNA fragmentation involved in apoptotic nuclear change|G2/M transition of mitotic cell cycle|induction of apoptosis|positive regulation of JNK cascade|positive regulation of MAP kinase activity	perinuclear region of cytoplasm	caspase activator activity|protein heterodimerization activity|protein homodimerization activity				0			LUSC - Lung squamous cell carcinoma(4;0.0263)|Lung(4;0.0828)	GBM - Glioblastoma multiforme(226;0.0265)		GCCAGTGCTGACTTCTCTAGC	0.393												
LAMA2	3908	broad.mit.edu	37	6	129636721	129636721	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr6:129636721C>T	uc003qbn.2	+	25	3761	c.3656C>T	c.(3655-3657)GCC>GTC	p.A1219V	LAMA2_uc003qbo.2_Missense_Mutation_p.A1219V	NM_000426	NP_000417	P24043	LAMA2_HUMAN	laminin alpha 2 subunit isoform a precursor	1219	Laminin IV type A 2.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			ovary(8)|breast(1)|skin(1)	10				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		GAGATTGTTGCCCACATGGAC	0.448												
ARHGAP18	93663	broad.mit.edu	37	6	129959541	129959541	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr6:129959541T>C	uc003qbr.2	-	3	639	c.550A>G	c.(550-552)ACA>GCA	p.T184A	ARHGAP18_uc011ebw.1_Missense_Mutation_p.T184A	NM_033515	NP_277050	Q8N392	RHG18_HUMAN	Rho GTPase activating protein 18	184					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding			ovary(2)|skin(1)	3				OV - Ovarian serous cystadenocarcinoma(136;0.0621)|GBM - Glioblastoma multiforme(226;0.0638)|all cancers(137;0.074)		AAACCTACTGTTTCTTTTGAT	0.318												
EPB41L2	2037	broad.mit.edu	37	6	131179333	131179333	+	Silent	SNP	C	C	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr6:131179333C>T	uc003qch.2	-	19	3143	c.2961G>A	c.(2959-2961)TCG>TCA	p.S987S	EPB41L2_uc003qce.1_Silent_p.S365S|EPB41L2_uc003qcf.1_RNA|EPB41L2_uc003qcg.1_Silent_p.S729S|EPB41L2_uc011eby.1_Silent_p.S655S|EPB41L2_uc003qci.2_Silent_p.S834S|EPB41L2_uc010kfk.2_Silent_p.S655S|EPB41L2_uc003qcd.1_Silent_p.S148S	NM_001431	NP_001422	O43491	E41L2_HUMAN	erythrocyte membrane protein band 4.1-like 2	987	Carboxyl-terminal (CTD).				cortical actin cytoskeleton organization	extrinsic to membrane|plasma membrane|spectrin	actin binding|structural molecule activity			central_nervous_system(1)|skin(1)	2	Breast(56;0.0639)			OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)		CTCTTGTGACCGACATGTCAG	0.552												
MED23	9439	broad.mit.edu	37	6	131919553	131919553	+	Silent	SNP	T	T	G			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr6:131919553T>G	uc003qcs.1	-	20	2655	c.2481A>C	c.(2479-2481)GCA>GCC	p.A827A	MED23_uc003qcq.2_Silent_p.A833A|MED23_uc011eca.1_Silent_p.A468A|MED23_uc003qct.1_Silent_p.A833A	NM_004830	NP_004821	Q9ULK4	MED23_HUMAN	mediator complex subunit 23 isoform a	827					regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor complex	protein binding|transcription coactivator activity			ovary(1)|kidney(1)|central_nervous_system(1)	3	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608)		CCAGGAAATCTGCAAATGTCC	0.398												
TCF21	6943	broad.mit.edu	37	6	134210668	134210668	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr6:134210668G>A	uc003qei.3	+	1	409	c.133G>A	c.(133-135)GAG>AAG	p.E45K	uc003qeg.1_5'Flank|TCF21_uc003qej.2_Missense_Mutation_p.E45K	NM_003206	NP_003197	O43680	TCF21_HUMAN	transcription factor 21	45					branching involved in ureteric bud morphogenesis|mesoderm development|negative regulation of androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent	nucleus	androgen receptor binding|E-box binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity				0	Colorectal(23;0.221)|Breast(56;0.247)			GBM - Glioblastoma multiforme(68;0.00518)|OV - Ovarian serous cystadenocarcinoma(155;0.00783)		CTCCAACTGCGAGAATGGGTC	0.592												
KATNA1	11104	broad.mit.edu	37	6	149918302	149918302	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr6:149918302G>A	uc003qmr.1	-	9	1219	c.1174C>T	c.(1174-1176)CGA>TGA	p.R392*	KATNA1_uc003qms.2_Nonsense_Mutation_p.R392*|KATNA1_uc003qmt.2_Intron	NM_007044	NP_008975	O75449	KTNA1_HUMAN	katanin p60 subunit A 1	392					cell division|interphase of mitotic cell cycle|mitosis	microtubule|microtubule organizing center|spindle pole	ATP binding|microtubule binding|microtubule-severing ATPase activity|protein heterodimerization activity			skin(1)	1		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;2.95e-12)|GBM - Glioblastoma multiforme(68;0.173)		AGACTTATTCGTAATAGCTCC	0.388												
PLEKHG1	57480	broad.mit.edu	37	6	151153335	151153335	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr6:151153335G>A	uc003qny.1	+	16	3400	c.3088G>A	c.(3088-3090)GCC>ACC	p.A1030T	PLEKHG1_uc011eel.1_Missense_Mutation_p.A1070T|PLEKHG1_uc011eem.1_Missense_Mutation_p.A1089T|PLEKHG1_uc003qnz.2_Missense_Mutation_p.A1030T	NM_001029884	NP_001025055	Q9ULL1	PKHG1_HUMAN	pleckstrin homology domain containing, family G	1030					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)		AGGAGGGCCCGCCATTGGTAT	0.527												
TIAM2	26230	broad.mit.edu	37	6	155498051	155498051	+	Silent	SNP	A	A	G			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr6:155498051A>G	uc003qqb.2	+	12	3736	c.2463A>G	c.(2461-2463)GGA>GGG	p.G821G	TIAM2_uc003qqe.2_Silent_p.G821G|TIAM2_uc010kjj.2_Silent_p.G354G|TIAM2_uc003qqf.2_Silent_p.G197G|TIAM2_uc011efl.1_Silent_p.G157G|TIAM2_uc003qqg.2_Silent_p.G133G	NM_012454	NP_036586	Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	821	RBD.				apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			ovary(3)|breast(1)	4		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		ACAATCACGGAGTTACTGTAG	0.413												
TIAM2	26230	broad.mit.edu	37	6	155498077	155498077	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr6:155498077A>G	uc003qqb.2	+	12	3762	c.2489A>G	c.(2488-2490)CAC>CGC	p.H830R	TIAM2_uc003qqe.2_Missense_Mutation_p.H830R|TIAM2_uc010kjj.2_Missense_Mutation_p.H363R|TIAM2_uc003qqf.2_Missense_Mutation_p.H206R|TIAM2_uc011efl.1_Missense_Mutation_p.H166R|TIAM2_uc003qqg.2_Missense_Mutation_p.H142R	NM_012454	NP_036586	Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	830	RBD.				apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			ovary(3)|breast(1)	4		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		AAGCCAGAGCACAGAGTAGAA	0.403												
RSPH3	83861	broad.mit.edu	37	6	159404767	159404767	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr6:159404767T>C	uc003qrx.2	-	4	1035	c.845A>G	c.(844-846)GAC>GGC	p.D282G	RSPH3_uc010kju.2_Intron|RSPH3_uc003qry.1_Missense_Mutation_p.D282G	NM_031924	NP_114130	Q86UC2	RSPH3_HUMAN	radial spoke 3 homolog	282										ovary(1)|skin(1)	2		Breast(66;0.00519)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;2.36e-16)|BRCA - Breast invasive adenocarcinoma(81;5.92e-06)		TGGTGGTCTGTCCAAAAATGC	0.398												
IGF2R	3482	broad.mit.edu	37	6	160461669	160461669	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr6:160461669G>A	uc003qta.2	+	11	1541	c.1393G>A	c.(1393-1395)GCC>ACC	p.A465T		NM_000876	NP_000867	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor precursor	465	Lumenal (Potential).|3.				receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity			ovary(3)	3		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)		CACGGAATACGCCTGTGTTAA	0.547												
T	6862	broad.mit.edu	37	6	166571837	166571837	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr6:166571837G>A	uc003quu.1	-	9	1767	c.1274C>T	c.(1273-1275)GCC>GTC	p.A425V	T_uc003qut.1_Missense_Mutation_p.A426V|T_uc003quv.1_Missense_Mutation_p.A367V	NM_003181	NP_003172	O15178	BRAC_HUMAN	transcription factor T	425					anterior/posterior axis specification, embryo|mesoderm development|primitive streak formation	nucleus	sequence-specific DNA binding transcription factor activity			ovary(1)|pancreas(1)	2		Prostate(117;4.48e-07)|Ovarian(120;1.78e-06)|Breast(66;2.54e-06)|Lung SC(201;0.0225)|Esophageal squamous(34;0.0559)		OV - Ovarian serous cystadenocarcinoma(33;1.09e-113)|GBM - Glioblastoma multiforme(31;1.51e-108)|BRCA - Breast invasive adenocarcinoma(81;8.45e-09)|LUAD - Lung adenocarcinoma(999;0.0407)		TGTCCATGAGGCTATGAGGCG	0.627									Chordoma_Familial_Clustering_of			
MLLT4	4301	broad.mit.edu	37	6	168271129	168271129	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr6:168271129G>A	uc003qwd.2	+	3	507	c.365G>A	c.(364-366)CGG>CAG	p.R122Q	MLLT4_uc003qwb.1_Missense_Mutation_p.R122Q|MLLT4_uc003qwc.1_Missense_Mutation_p.R122Q	NM_001040001	NP_001035090	P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia	122	Ras-associating 1.				adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction	adherens junction|cell-cell junction|cytosol|nucleus	protein C-terminus binding			ovary(2)|lung(1)|kidney(1)|central_nervous_system(1)	5		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		AAAGATGATCGGGAAGGCAGA	0.393			T	MLL	AL							
MAD1L1	8379	broad.mit.edu	37	7	2108876	2108876	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr7:2108876C>T	uc003slh.1	-	12	1437	c.1171G>A	c.(1171-1173)GAG>AAG	p.E391K	MAD1L1_uc003sle.1_Missense_Mutation_p.E120K|MAD1L1_uc003slf.1_Missense_Mutation_p.E391K|MAD1L1_uc003slg.1_Missense_Mutation_p.E391K|MAD1L1_uc010ksh.1_Missense_Mutation_p.E391K|MAD1L1_uc003sli.1_Missense_Mutation_p.E299K|MAD1L1_uc010ksi.1_Missense_Mutation_p.E344K|MAD1L1_uc010ksj.2_Missense_Mutation_p.E391K	NM_001013836	NP_001013858	Q9Y6D9	MD1L1_HUMAN	MAD1-like 1 protein	391	Necessary for interaction with NEK2.|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)		GCCAGCGCCTCGTGGGTCTCG	0.657												
FTSJ2	29960	broad.mit.edu	37	7	2279284	2279284	+	Missense_Mutation	SNP	G	G	A	rs138187457	byFrequency	TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr7:2279284G>A	uc003slm.2	-	2	96	c.67C>T	c.(67-69)CGC>TGC	p.R23C	FTSJ2_uc003slk.2_5'UTR|FTSJ2_uc003sll.2_5'UTR|FTSJ2_uc003sln.2_RNA|FTSJ2_uc003slo.2_5'UTR|NUDT1_uc003slp.1_5'Flank|NUDT1_uc003slq.1_5'Flank|NUDT1_uc003slr.1_5'Flank|NUDT1_uc003sls.1_5'Flank|NUDT1_uc003slt.1_5'Flank	NM_013393	NP_037525	Q9UI43	RRMJ2_HUMAN	FtsJ homolog 2	23					cell proliferation	mitochondrion|nucleolus	nucleic acid binding|rRNA (uridine-2'-O-)-methyltransferase activity			ovary(1)	1		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0822)|OV - Ovarian serous cystadenocarcinoma(56;2.7e-14)		TTCTTGCAGCGACTCCCAACA	0.552												
SNX8	29886	broad.mit.edu	37	7	2297420	2297420	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr7:2297420C>T	uc003slw.2	-	8	977	c.934G>A	c.(934-936)GAC>AAC	p.D312N		NM_013321	NP_037453	Q9Y5X2	SNX8_HUMAN	sorting nexin 8	312					cell communication|early endosome to Golgi transport|intracellular protein transport	early endosome membrane	phosphatidylinositol binding|protein binding			large_intestine(1)|ovary(1)	2		Ovarian(82;0.11)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0853)|OV - Ovarian serous cystadenocarcinoma(56;3.79e-14)		TCCACCACGTCGTTCTCTTCC	0.592												
C7orf27	221927	broad.mit.edu	37	7	2583343	2583343	+	Silent	SNP	G	G	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr7:2583343G>A	uc003smi.2	-	5	726	c.684C>T	c.(682-684)TGC>TGT	p.C228C	C7orf27_uc003smh.3_5'Flank|C7orf27_uc003smj.1_Silent_p.C228C	NM_152743	NP_689956	Q6PJG6	BRAT1_HUMAN	hypothetical protein LOC221927 precursor	228					response to ionizing radiation	nucleus	protein binding				0		Ovarian(82;0.0779)		OV - Ovarian serous cystadenocarcinoma(56;2.91e-14)		AGGGGCTCTGGCAGCGCCCGA	0.662												
CARD11	84433	broad.mit.edu	37	7	2974156	2974156	+	Silent	SNP	T	T	C			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr7:2974156T>C	uc003smv.2	-	10	1853	c.1449A>G	c.(1447-1449)TCA>TCG	p.S483S		NM_032415	NP_115791	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	483					positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity			haematopoietic_and_lymphoid_tissue(43)|ovary(2)|kidney(2)|skin(2)|central_nervous_system(1)	50		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		TGTCTTCAGGTGACTCCTCCG	0.592			Mis		DLBCL							
CARD11	84433	broad.mit.edu	37	7	2984023	2984023	+	Silent	SNP	C	C	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr7:2984023C>T	uc003smv.2	-	5	911	c.507G>A	c.(505-507)ACG>ACA	p.T169T		NM_032415	NP_115791	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	169	Potential.				positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity			haematopoietic_and_lymphoid_tissue(43)|ovary(2)|kidney(2)|skin(2)|central_nervous_system(1)	50		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		GCTCCACGCGCGTCAGCGTCA	0.572			Mis		DLBCL							
RNF216	54476	broad.mit.edu	37	7	5662491	5662491	+	Nonstop_Mutation	SNP	T	T	C			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr7:5662491T>C	uc003soy.1	-	17	2791	c.2601A>G	c.(2599-2601)TGA>TGG	p.*867W	RNF216_uc010ksz.1_Nonstop_Mutation_p.*489W|RNF216_uc010kta.1_Nonstop_Mutation_p.*489W|RNF216_uc011jwj.1_Nonstop_Mutation_p.*489W|RNF216_uc003sox.1_Nonstop_Mutation_p.*924W	NM_207116	NP_996999	Q9NWF9	RN216_HUMAN	ring finger protein 216 isoform b	867					apoptosis|interspecies interaction between organisms|proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked ubiquitination|regulation of defense response to virus by host|regulation of interferon-beta production	cytoplasm|nucleus|nucleus	ligase activity|protein binding|protein binding|zinc ion binding			ovary(3)|breast(2)	5		Ovarian(82;0.07)		UCEC - Uterine corpus endometrioid carcinoma (126;0.135)|OV - Ovarian serous cystadenocarcinoma(56;2.69e-13)		TTCGGGGCCATCAGAAGCGAT	0.597												
C7orf26	79034	broad.mit.edu	37	7	6634210	6634210	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr7:6634210G>A	uc003sqo.1	+	3	559	c.559G>A	c.(559-561)GCG>ACG	p.A187T	C7orf26_uc003sqp.1_Missense_Mutation_p.A168T|C7orf26_uc003sqq.1_Intron	NM_024067	NP_076972	Q96N11	CG026_HUMAN	hypothetical protein LOC79034	187										ovary(1)	1		Ovarian(82;0.232)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)		CTCCGTTACCGCGCTCTATGA	0.463												
HDAC9	9734	broad.mit.edu	37	7	18767320	18767320	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr7:18767320G>A	uc003suh.2	+	12	1881	c.1840G>A	c.(1840-1842)GCT>ACT	p.A614T	HDAC9_uc003sue.2_Missense_Mutation_p.A614T|HDAC9_uc011jyd.1_Missense_Mutation_p.A614T|HDAC9_uc003sui.2_Missense_Mutation_p.A617T|HDAC9_uc003suj.2_Missense_Mutation_p.A573T|HDAC9_uc003sua.1_Missense_Mutation_p.A592T|HDAC9_uc010kue.1_Missense_Mutation_p.A269T	NM_058176	NP_478056	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9 isoform 1	614					B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|histone deacetylase binding|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 binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity			lung(2)|central_nervous_system(2)|kidney(1)	5	all_lung(11;0.187)				Valproic Acid(DB00313)	CTCTTCCCCTGCTGCCTCTGT	0.572												
TMEM196	256130	broad.mit.edu	37	7	19765163	19765163	+	Missense_Mutation	SNP	G	G	C			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr7:19765163G>C	uc011jyg.1	-	3	518	c.433C>G	c.(433-435)CAT>GAT	p.H145D	TMEM196_uc003sur.2_RNA	NM_152774	NP_689987	Q5HYL7	TM196_HUMAN	transmembrane protein 196	151						integral to membrane					0						TGAGAGTGATGCAGGGAATGC	0.488												
NFE2L3	9603	broad.mit.edu	37	7	26217597	26217597	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr7:26217597T>C	uc003sxq.2	+	2	877	c.605T>C	c.(604-606)GTG>GCG	p.V202A		NM_004289	NP_004280	Q9Y4A8	NF2L3_HUMAN	nuclear factor erythroid 2-like 3	202					transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			skin(3)|ovary(1)	4						CACGAAGCTGTGGATCATAGT	0.388												
HOXA3	3200	broad.mit.edu	37	7	27150193	27150193	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr7:27150193C>T	uc011jzl.1	-	2	267	c.67G>A	c.(67-69)GGG>AGG	p.G23R	HOXA3_uc011jzk.1_Intron|HOXA3_uc003syk.2_Missense_Mutation_p.G23R	NM_030661	NP_109377	O43365	HXA3_HUMAN	homeobox A3 isoform a	23					angiogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)	2						TAAGCGAACCCGTTGGCTGCC	0.612												
DPY19L1	23333	broad.mit.edu	37	7	35009088	35009088	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr7:35009088A>G	uc003tem.3	-	9	897	c.752T>C	c.(751-753)TTC>TCC	p.F251S		NM_015283	NP_056098	Q2PZI1	D19L1_HUMAN	dpy-19-like 1	251	Helical; (Potential).					integral to membrane					0						AGGAAGCATGAAAAATACATT	0.343												
C7orf10	79783	broad.mit.edu	37	7	40900065	40900065	+	Missense_Mutation	SNP	A	A	C			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr7:40900065A>C	uc003thn.1	+	14	1349	c.1304A>C	c.(1303-1305)CAT>CCT	p.H435P	C7orf10_uc003thm.1_Missense_Mutation_p.H431P|C7orf10_uc003tho.1_Missense_Mutation_p.H387P|C7orf10_uc003thp.1_RNA	NM_024728	NP_079004	Q9HAC7	CG010_HUMAN	dermal papilla derived protein 13	442							transferase activity			ovary(2)	2						GTGGACCAACATGAAACTCAC	0.552												
GLI3	2737	broad.mit.edu	37	7	42005281	42005281	+	Silent	SNP	G	G	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr7:42005281G>A	uc011kbh.1	-	15	3481	c.3390C>T	c.(3388-3390)GAC>GAT	p.D1130D	GLI3_uc011kbg.1_Silent_p.D1071D	NM_000168	NP_000159	P10071	GLI3_HUMAN	GLI-Kruppel family member GLI3	1130					negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			lung(11)|ovary(3)|large_intestine(2)|central_nervous_system(1)|kidney(1)|pancreas(1)	19						GCCCGGGCGCGTCAAAGTCAC	0.642									Greig_Cephalopolysyndactyly|Pallister-Hall_syndrome			
NPC1L1	29881	broad.mit.edu	37	7	44579719	44579719	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr7:44579719C>T	uc003tlb.2	-	2	333	c.277G>A	c.(277-279)GCC>ACC	p.A93T	NPC1L1_uc003tlc.2_Missense_Mutation_p.A93T|NPC1L1_uc011kbw.1_Missense_Mutation_p.A93T|NPC1L1_uc003tld.2_Missense_Mutation_p.A93T	NM_013389	NP_037521	Q9UHC9	NPCL1_HUMAN	Niemann-Pick C1-like protein 1 isoform 1	93	Extracellular (Potential).				cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding			ovary(3)|central_nervous_system(1)|skin(1)	5					Ezetimibe(DB00973)	AGCTGCTTGGCGGAGCAGCAG	0.597												
TBRG4	9238	broad.mit.edu	37	7	45148709	45148709	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr7:45148709G>A	uc003tmv.2	-	2	254	c.128C>T	c.(127-129)GCC>GTC	p.A43V	TBRG4_uc003tmu.2_5'Flank|TBRG4_uc003tmw.2_Missense_Mutation_p.A43V|TBRG4_uc003tmx.2_Missense_Mutation_p.A43V|TBRG4_uc011kcd.1_Missense_Mutation_p.A54V	NM_004749	NP_004740	Q969Z0	TBRG4_HUMAN	cell cycle progression 2 protein isoform 1	43					apoptosis|cell cycle arrest|cellular respiration|G1 phase of mitotic cell cycle|positive regulation of cell proliferation	mitochondrion	ATP binding|protein binding|protein kinase activity				0						GGGTGAGGTGGCTGAGGAAGT	0.582												
PKD1L1	168507	broad.mit.edu	37	7	47851503	47851503	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr7:47851503G>A	uc003tny.1	-	50	7493	c.7493C>T	c.(7492-7494)ACG>ATG	p.T2498M	C7orf69_uc003tnz.3_Intron|C7orf69_uc003toa.1_Intron|PKD1L1_uc003tob.2_Missense_Mutation_p.T225M	NM_138295	NP_612152	Q8TDX9	PK1L1_HUMAN	polycystin-1L1	2498	Extracellular (Potential).				cell-cell adhesion	integral to membrane				ovary(8)|upper_aerodigestive_tract(2)|breast(1)	11						GAGACTCCCCGTAGGGAGGAT	0.582												
PKD1L1	168507	broad.mit.edu	37	7	47942044	47942044	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr7:47942044G>A	uc003tny.1	-	13	1996	c.1996C>T	c.(1996-1998)CAA>TAA	p.Q666*		NM_138295	NP_612152	Q8TDX9	PK1L1_HUMAN	polycystin-1L1	666	Extracellular (Potential).|PKD 2.				cell-cell adhesion	integral to membrane				ovary(8)|upper_aerodigestive_tract(2)|breast(1)	11						ATGAAAAGTTGCTGTCTTAGA	0.522												
ZNF107	51427	broad.mit.edu	37	7	64167799	64167799	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr7:64167799G>A	uc003ttd.2	+	7	1903	c.1117G>A	c.(1117-1119)GAA>AAA	p.E373K	ZNF107_uc003tte.2_Missense_Mutation_p.E373K	NM_016220	NP_057304	Q9UII5	ZN107_HUMAN	zinc finger protein 107	373	C2H2-type 11.				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)				AAACCTTACTGAACATAAGAA	0.323												
ZNF107	51427	broad.mit.edu	37	7	64168521	64168521	+	Silent	SNP	T	T	C			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr7:64168521T>C	uc003ttd.2	+	7	2625	c.1839T>C	c.(1837-1839)TGT>TGC	p.C613C	ZNF107_uc003tte.2_Silent_p.C613C	NM_016220	NP_057304	Q9UII5	ZN107_HUMAN	zinc finger protein 107	613	C2H2-type 20.				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)				GTGAAGAATGTGGAAAAGCTT	0.343												
BAZ1B	9031	broad.mit.edu	37	7	72892140	72892140	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr7:72892140G>A	uc003tyc.2	-	7	1996	c.1651C>T	c.(1651-1653)CGG>TGG	p.R551W		NM_032408	NP_115784	Q9UIG0	BAZ1B_HUMAN	bromodomain adjacent to zinc finger domain, 1B	551	Potential.|Lys-rich.				ATP-dependent chromatin remodeling|chromatin-mediated maintenance of transcription|DNA replication-dependent nucleosome disassembly|double-strand break repair|heart morphogenesis|transcription, DNA-dependent	WINAC complex	ATP binding|chromatin binding|histone acetyl-lysine binding|histone kinase activity|non-membrane spanning protein tyrosine kinase activity|protein complex scaffold|vitamin D receptor activator activity|vitamin D receptor binding|zinc ion binding			ovary(4)|upper_aerodigestive_tract(1)|breast(1)|skin(1)	7		Lung NSC(55;0.0659)|all_lung(88;0.152)				AGCTCCTCCCGTTTCTTTTTC	0.388												
SEMA3E	9723	broad.mit.edu	37	7	83277761	83277761	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr7:83277761A>G	uc003uhy.1	-	1	564	c.98T>C	c.(97-99)TTA>TCA	p.L33S		NM_012431	NP_036563	O15041	SEM3E_HUMAN	semaphorin 3E precursor	33	Sema.				axon guidance	extracellular space|membrane	receptor activity			ovary(3)	3		Medulloblastoma(109;0.109)				TGACAGGCGTAACCGGGGGTG	0.398												
ABCB1	5243	broad.mit.edu	37	7	87183250	87183250	+	Splice_Site	SNP	T	T	C			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr7:87183250T>C	uc003uiz.1	-	10	1246	c.828_splice	c.e10-1	p.R276_splice	ABCB1_uc011khc.1_Splice_Site_p.R212_splice	NM_000927	NP_000918	P08183	MDR1_HUMAN	ATP-binding cassette, subfamily B, member 1						G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity			ovary(4)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	7	Esophageal squamous(14;0.00164)				Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)	TTGTTGTACCTGAGAAAAAGA	0.259												
C7orf63	79846	broad.mit.edu	37	7	89936277	89936277	+	Silent	SNP	T	T	C			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr7:89936277T>C	uc010lep.2	+	20	2579	c.2328T>C	c.(2326-2328)ACT>ACC	p.T776T	C7orf63_uc011khj.1_Silent_p.T758T|C7orf63_uc011khk.1_Silent_p.T292T	NM_001039706	NP_001034795	A5D8W1	CG063_HUMAN	hypothetical protein LOC79846 isoform 1	776							binding			ovary(1)	1						GACCAGTCACTACAGATAAAA	0.294												
CDK14	5218	broad.mit.edu	37	7	90747392	90747392	+	Missense_Mutation	SNP	T	T	G			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr7:90747392T>G	uc003uky.2	+	14	1529	c.1307T>G	c.(1306-1308)TTT>TGT	p.F436C	CDK14_uc003ukz.1_Missense_Mutation_p.F418C|CDK14_uc010les.1_Missense_Mutation_p.F390C|CDK14_uc011khl.1_Missense_Mutation_p.F307C	NM_012395	NP_036527	O94921	CDK14_HUMAN	PFTAIRE protein kinase 1	436					cell division|G2/M transition of mitotic cell cycle|regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	cytoplasmic cyclin-dependent protein kinase holoenzyme complex|nucleus|plasma membrane	ATP binding|cyclin binding|cyclin-dependent protein kinase activity			lung(3)|ovary(1)	4						TCTTCTATTTTTACTGTCCCA	0.318												
AKAP9	10142	broad.mit.edu	37	7	91645473	91645473	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr7:91645473A>G	uc003ulg.2	+	11	3868	c.3643A>G	c.(3643-3645)ACT>GCT	p.T1215A	AKAP9_uc003ule.2_Missense_Mutation_p.T1227A|AKAP9_uc003ulf.2_Missense_Mutation_p.T1215A|AKAP9_uc003uli.2_Missense_Mutation_p.T840A	NM_005751	NP_005742	Q99996	AKAP9_HUMAN	A-kinase anchor protein 9 isoform 2	1227					G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			breast(7)|ovary(6)|lung(5)|skin(3)|large_intestine(2)|prostate(2)|central_nervous_system(1)	26	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			TGAATATTATACTCCTGCTTT	0.279			T	BRAF	papillary thyroid							
SAMD9	54809	broad.mit.edu	37	7	92734173	92734173	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr7:92734173T>C	uc003umf.2	-	3	1494	c.1238A>G	c.(1237-1239)TAC>TGC	p.Y413C	SAMD9_uc003umg.2_Missense_Mutation_p.Y413C	NM_017654	NP_060124	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	413						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)			TACAAGAATGTACTGTTCATA	0.318												
SAMD9L	219285	broad.mit.edu	37	7	92761679	92761679	+	Silent	SNP	T	T	C			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr7:92761679T>C	uc003umh.1	-	5	4822	c.3606A>G	c.(3604-3606)GAA>GAG	p.E1202E	SAMD9L_uc003umj.1_Silent_p.E1202E|SAMD9L_uc003umi.1_Silent_p.E1202E|SAMD9L_uc010lfb.1_Silent_p.E1202E|SAMD9L_uc003umk.1_Silent_p.E1202E|SAMD9L_uc010lfc.1_Silent_p.E1202E|SAMD9L_uc010lfd.1_Silent_p.E1202E|SAMD9L_uc011khx.1_Intron	NM_152703	NP_689916	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	1202										ovary(4)	4	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			AAAGACCAACTTCTATTTCAC	0.363												
PPP1R9A	55607	broad.mit.edu	37	7	94750077	94750077	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr7:94750077G>A	uc003unp.2	+	4	1864	c.1582G>A	c.(1582-1584)GGA>AGA	p.G528R	PPP1R9A_uc010lfj.2_Missense_Mutation_p.G528R|PPP1R9A_uc011kif.1_Missense_Mutation_p.G528R|PPP1R9A_uc003unq.2_Missense_Mutation_p.G528R|PPP1R9A_uc011kig.1_Missense_Mutation_p.G528R	NM_017650	NP_060120	Q9ULJ8	NEB1_HUMAN	protein phosphatase 1, regulatory (inhibitor)	528	PDZ.					cell junction|synapse|synaptosome	actin binding			ovary(2)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	4	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		STAD - Stomach adenocarcinoma(171;0.0031)			AGCAGATGCTGGACTTGAAAA	0.388										HNSCC(28;0.073)		
DYNC1I1	1780	broad.mit.edu	37	7	95726809	95726809	+	Silent	SNP	C	C	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr7:95726809C>T	uc003uoc.3	+	17	2119	c.1842C>T	c.(1840-1842)CAC>CAT	p.H614H	DYNC1I1_uc003uod.3_Silent_p.H597H|DYNC1I1_uc003uob.2_Silent_p.H577H|DYNC1I1_uc003uoe.3_Silent_p.H594H|DYNC1I1_uc010lfl.2_Silent_p.H603H	NM_004411	NP_004402	O14576	DC1I1_HUMAN	dynein, cytoplasmic 1, intermediate chain 1	614	WD 7.				vesicle transport along microtubule	condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|perinuclear region of cytoplasm|spindle pole|vesicle	microtubule binding|microtubule motor activity			ovary(3)|kidney(1)	4	all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191)		STAD - Stomach adenocarcinoma(171;0.0957)			CAGTTCCCCACAATGATGAAT	0.468												
ASNS	440	broad.mit.edu	37	7	97493592	97493592	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr7:97493592C>T	uc003uot.3	-	4	972	c.466G>A	c.(466-468)GCT>ACT	p.A156T	ASNS_uc011kin.1_Missense_Mutation_p.A73T|ASNS_uc003uou.3_Missense_Mutation_p.A156T|ASNS_uc003uov.3_Missense_Mutation_p.A156T|ASNS_uc011kio.1_Missense_Mutation_p.A135T|ASNS_uc003uow.3_Missense_Mutation_p.A135T|ASNS_uc003uox.3_Missense_Mutation_p.A73T	NM_133436	NP_597680	P08243	ASNS_HUMAN	asparagine synthetase	156	Glutamine amidotransferase type-2.				cellular response to glucose starvation|glutamine metabolic process|negative regulation of apoptosis|positive regulation of mitotic cell cycle	cytosol|soluble fraction	asparagine synthase (glutamine-hydrolyzing) activity|ATP binding			ovary(1)	1	all_cancers(62;6.64e-09)|all_epithelial(64;1.58e-09)|Esophageal squamous(72;0.00448)|Lung NSC(181;0.0342)|all_lung(186;0.0369)				Adenosine triphosphate(DB00171)|L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	GAACATACAGCCAAAAATCCA	0.299												
BAIAP2L1	55971	broad.mit.edu	37	7	97944915	97944915	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr7:97944915T>C	uc003upj.2	-	7	759	c.496A>G	c.(496-498)ACC>GCC	p.T166A		NM_018842	NP_061330	Q9UHR4	BI2L1_HUMAN	BAI1-associated protein 2-like 1	166	IMD.				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)			GAAGTAACGGTCTCCACATAC	0.378												
TRRAP	8295	broad.mit.edu	37	7	98533290	98533290	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr7:98533290C>T	uc003upp.2	+	28	4312	c.4103C>T	c.(4102-4104)GCG>GTG	p.A1368V	TRRAP_uc011kis.1_Missense_Mutation_p.A1368V|TRRAP_uc003upr.2_Missense_Mutation_p.A1060V	NM_003496	NP_003487	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated	1368					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)			TTACGAATTGCGGCATTAAGT	0.393												
TRRAP	8295	broad.mit.edu	37	7	98608823	98608823	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr7:98608823C>T	uc003upp.2	+	70	11254	c.11045C>T	c.(11044-11046)GCG>GTG	p.A3682V	TRRAP_uc011kis.1_Missense_Mutation_p.A3653V|TRRAP_uc003upr.2_Missense_Mutation_p.A3388V|TRRAP_uc003ups.2_5'Flank	NM_003496	NP_003487	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated	3682	PI3K/PI4K.				histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			ovary(9)|large_intestine(8)|central_nervous_system(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(1)|lung(1)|liver(1)	37	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			ATAGGCTTCGCGGAATTCGTC	0.537												
ZNF655	79027	broad.mit.edu	37	7	99170016	99170016	+	Missense_Mutation	SNP	A	A	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr7:99170016A>T	uc003urh.2	+	3	678	c.285A>T	c.(283-285)AGA>AGT	p.R95S	ZNF655_uc010lga.2_Missense_Mutation_p.R130S|ZNF655_uc010lgc.2_Missense_Mutation_p.R130S|ZNF655_uc003urj.2_Missense_Mutation_p.R95S|ZNF655_uc003urk.2_5'UTR|ZNF655_uc010lgd.2_5'UTR	NM_138494	NP_612503	Q8N720	ZN655_HUMAN	zinc finger protein 655 isoform a	95					G1 phase|regulation of mitotic cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding|zinc ion binding			ovary(1)	1	all_epithelial(64;3.19e-09)|Lung NSC(181;0.0066)|all_lung(186;0.011)|Esophageal squamous(72;0.0166)					CTGAGGACAGATTAGAAAGAC	0.393												
MUC17	140453	broad.mit.edu	37	7	100681299	100681299	+	Missense_Mutation	SNP	C	C	G			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr7:100681299C>G	uc003uxp.1	+	3	6655	c.6602C>G	c.(6601-6603)TCT>TGT	p.S2201C	MUC17_uc010lho.1_RNA	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	mucin 17 precursor	2201	Extracellular (Potential).|35.|59 X approximate tandem repeats.|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)					GCCCGTTCATCTCCTACAACT	0.507												
PMPCB	9512	broad.mit.edu	37	7	102940681	102940681	+	Silent	SNP	T	T	G			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr7:102940681T>G	uc003vbl.2	+	4	418	c.384T>G	c.(382-384)GCT>GCG	p.A128A	PMPCB_uc010liu.1_Silent_p.A128A|PMPCB_uc003vbk.1_Silent_p.A128A|PMPCB_uc003vbm.2_Silent_p.A37A|PMPCB_uc010liv.2_Silent_p.A34A|PMPCB_uc010liw.2_Silent_p.A37A|PMPCB_uc011kll.1_Silent_p.A23A|PMPCB_uc011klm.1_Silent_p.A3A	NM_004279	NP_004270	O75439	MPPB_HUMAN	mitochondrial processing peptidase beta subunit	128					proteolysis	mitochondrial matrix	metalloendopeptidase activity|zinc ion binding			ovary(4)	4						ATATGGGTGCTCATCTCAATG	0.378												
SLC26A5	375611	broad.mit.edu	37	7	103030877	103030877	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr7:103030877T>C	uc003vbz.2	-	12	1546	c.1310A>G	c.(1309-1311)CAG>CGG	p.Q437R	SLC26A5_uc003vbt.1_Missense_Mutation_p.Q437R|SLC26A5_uc003vbu.1_Missense_Mutation_p.Q437R|SLC26A5_uc003vbv.1_Intron|SLC26A5_uc003vbw.2_RNA|SLC26A5_uc003vbx.2_Missense_Mutation_p.Q437R|SLC26A5_uc003vby.2_RNA|SLC26A5_uc010liy.2_Intron	NM_198999	NP_945350	P58743	S26A5_HUMAN	prestin isoform a	437	Cytoplasmic (Potential).				regulation of cell shape|sensory perception of sound	integral to membrane	secondary active sulfate transmembrane transporter activity			ovary(1)	1						TACACACACCTGGGGCAATGA	0.373												
SLC26A5	375611	broad.mit.edu	37	7	103050937	103050937	+	Silent	SNP	G	G	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr7:103050937G>A	uc003vbz.2	-	7	866	c.630C>T	c.(628-630)GTC>GTT	p.V210V	SLC26A5_uc003vbt.1_Silent_p.V210V|SLC26A5_uc003vbu.1_Silent_p.V210V|SLC26A5_uc003vbv.1_Silent_p.V210V|SLC26A5_uc003vbw.2_RNA|SLC26A5_uc003vbx.2_Silent_p.V210V|SLC26A5_uc003vby.2_RNA|SLC26A5_uc010liy.2_RNA	NM_198999	NP_945350	P58743	S26A5_HUMAN	prestin isoform a	210	Cytoplasmic (Potential).				regulation of cell shape|sensory perception of sound	integral to membrane	secondary active sulfate transmembrane transporter activity			ovary(1)	1						TAAACCCACGGACCAGAGGCT	0.413												
MLL5	55904	broad.mit.edu	37	7	104753406	104753406	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr7:104753406T>C	uc003vcm.2	+	27	5737	c.5203T>C	c.(5203-5205)TCA>CCA	p.S1735P	MLL5_uc010ljc.2_Missense_Mutation_p.S1735P|MLL5_uc010ljf.1_Intron|MLL5_uc010ljg.2_Missense_Mutation_p.S469P	NM_182931	NP_891847	Q8IZD2	MLL5_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 5	1735	Pro-rich.				cell cycle arrest|cellular response to retinoic acid|DNA methylation|erythrocyte differentiation|neutrophil activation|neutrophil mediated immunity|positive regulation of granulocyte differentiation|positive regulation of transcription, DNA-dependent|retinoic acid receptor signaling pathway|transcription, DNA-dependent	MLL5-L complex|nuclear speck	enzyme binding|histone methyltransferase activity (H3-K4 specific)|transcription coactivator activity|zinc ion binding			ovary(2)|pancreas(1)	3						TCATACCACATCAGCTCAAGC	0.527												
MLL5	55904	broad.mit.edu	37	7	104753622	104753622	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr7:104753622A>G	uc003vcm.2	+	27	5953	c.5419A>G	c.(5419-5421)ACT>GCT	p.T1807A	MLL5_uc010ljc.2_Missense_Mutation_p.T1807A|MLL5_uc010ljf.1_RNA|MLL5_uc010ljg.2_Missense_Mutation_p.T541A	NM_182931	NP_891847	Q8IZD2	MLL5_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 5	1807	Pro-rich.				cell cycle arrest|cellular response to retinoic acid|DNA methylation|erythrocyte differentiation|neutrophil activation|neutrophil mediated immunity|positive regulation of granulocyte differentiation|positive regulation of transcription, DNA-dependent|retinoic acid receptor signaling pathway|transcription, DNA-dependent	MLL5-L complex|nuclear speck	enzyme binding|histone methyltransferase activity (H3-K4 specific)|transcription coactivator activity|zinc ion binding			ovary(2)|pancreas(1)	3						TCCAACACCTACTGCTTCAGG	0.562												
PNPLA8	50640	broad.mit.edu	37	7	108155211	108155211	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr7:108155211T>C	uc003vff.1	-	4	1132	c.725A>G	c.(724-726)GAA>GGA	p.E242G	PNPLA8_uc003vfg.1_RNA|PNPLA8_uc003vfh.1_Missense_Mutation_p.E242G|PNPLA8_uc003vfi.1_Missense_Mutation_p.E142G|PNPLA8_uc003vfj.1_Missense_Mutation_p.E242G|PNPLA8_uc003vfk.1_Missense_Mutation_p.E142G	NM_015723	NP_056538	Q9NP80	PLPL8_HUMAN	patatin-like phospholipase domain containing 8	242					fatty acid metabolic process|lipid catabolic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|membrane fraction|perinuclear region of cytoplasm|peroxisomal membrane	ATP binding|calcium-independent phospholipase A2 activity|lysophospholipase activity			breast(2)	2						TTTCCCCTCTTCTACCTTTTT	0.383												
FOXP2	93986	broad.mit.edu	37	7	114268597	114268597	+	Silent	SNP	G	G	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr7:114268597G>A	uc003vhb.2	+	4	635	c.261G>A	c.(259-261)GTG>GTA	p.V87V	FOXP2_uc003vgu.2_RNA|FOXP2_uc003vgz.2_Silent_p.V112V|FOXP2_uc003vha.2_5'UTR|FOXP2_uc011kmu.1_Silent_p.V87V|FOXP2_uc011kmv.1_Silent_p.V87V|FOXP2_uc010ljz.1_5'UTR|FOXP2_uc003vgt.1_RNA|FOXP2_uc003vgv.1_Silent_p.V87V|FOXP2_uc003vgw.2_Silent_p.V112V|FOXP2_uc003vgx.2_Silent_p.V87V|FOXP2_uc003vhd.2_Silent_p.V87V|FOXP2_uc003vhc.2_Silent_p.V112V	NM_014491	NP_055306	O15409	FOXP2_HUMAN	forkhead box P2 isoform I	87	Gln-rich.				camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	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(4)|pancreas(1)|lung(1)|breast(1)|skin(1)	8						TGTGCAAGGTGCCTGTGTCAG	0.423												
SLC13A1	6561	broad.mit.edu	37	7	122809232	122809232	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr7:122809232C>T	uc003vkm.2	-	4	548	c.523G>A	c.(523-525)GGA>AGA	p.G175R	SLC13A1_uc010lks.2_5'UTR	NM_022444	NP_071889	Q9BZW2	S13A1_HUMAN	solute carrier family 13 (sodium/sulfate	175						integral to membrane|plasma membrane	sodium:sulfate symporter activity			ovary(2)	2					Succinic acid(DB00139)	TTGGTTGATCCGTTGAAGTAA	0.473												
PAX4	5078	broad.mit.edu	37	7	127255747	127255747	+	Translation_Start_Site	SNP	T	T	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr7:127255747T>A	uc010lld.1	-	1	34	c.-172A>T	c.(-174--170)AAAGC>AATGC		PAX4_uc003vmf.2_5'Flank|PAX4_uc003vmg.1_Intron|PAX4_uc003vmh.2_5'Flank	NM_006193	NP_006184	O43316	PAX4_HUMAN	paired box 4						cell differentiation|endocrine pancreas development|organ morphogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1						CGCAAGCTGCTTTCTTTGAGA	0.602												
SND1	27044	broad.mit.edu	37	7	127447559	127447559	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr7:127447559C>T	uc003vmi.2	+	11	1400	c.1174C>T	c.(1174-1176)CCC>TCC	p.P392S	SND1_uc010lle.2_Missense_Mutation_p.P45S	NM_014390	NP_055205	Q7KZF4	SND1_HUMAN	staphylococcal nuclease domain containing 1	392	Nuclear localization signal (Potential).|TNase-like 3.				gene silencing by RNA|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	melanosome|nucleus|RNA-induced silencing complex	nuclease activity|nucleic acid binding|protein binding|transcription cofactor activity			ovary(2)|central_nervous_system(1)	3						GAAACTGCGTCCCCTGTATGA	0.353												
CCDC136	64753	broad.mit.edu	37	7	128452101	128452101	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr7:128452101G>A	uc003vnv.1	+	13	2643	c.2276G>A	c.(2275-2277)CGC>CAC	p.R759H	CCDC136_uc003vnu.1_Intron|CCDC136_uc003vnw.1_Intron|CCDC136_uc003vnx.1_Missense_Mutation_p.R575H|CCDC136_uc010llq.1_Missense_Mutation_p.R128H|CCDC136_uc003vny.1_Missense_Mutation_p.R369H	NM_022742	NP_073579	Q96JN2	CC136_HUMAN	coiled-coil domain containing 136	759						integral to membrane	protein binding			ovary(2)	2						GAGAACTGTCGCAAGACTTAT	0.478												
FLNC	2318	broad.mit.edu	37	7	128470849	128470849	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr7:128470849T>C	uc003vnz.3	+	1	367	c.158T>C	c.(157-159)GTG>GCG	p.V53A	FLNC_uc003voa.3_Missense_Mutation_p.V53A	NM_001458	NP_001449	Q14315	FLNC_HUMAN	gamma filamin isoform a	53	CH 1.|Actin-binding.				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			breast(5)|large_intestine(3)|ovary(2)|central_nervous_system(1)|skin(1)	12						CTCAAGTGCGTGGGCAAGCGC	0.642												
PLXNA4	91584	broad.mit.edu	37	7	131831339	131831339	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr7:131831339T>C	uc003vra.3	-	28	5214	c.4985A>G	c.(4984-4986)GAC>GGC	p.D1662G	PLXNA4_uc003vqz.3_5'Flank	NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN	plexin A4 isoform 1	1662	Cytoplasmic (Potential).					integral to membrane|intracellular|plasma membrane				ovary(1)	1						CTCCTTCTGGTCTCCGTGCTC	0.587												
NUP205	23165	broad.mit.edu	37	7	135292023	135292023	+	Silent	SNP	T	T	C			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr7:135292023T>C	uc003vsw.2	+	22	3130	c.3099T>C	c.(3097-3099)CTT>CTC	p.L1033L		NM_015135	NP_055950	Q92621	NU205_HUMAN	nucleoporin 205kDa	1033					carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			ovary(3)|breast(1)|central_nervous_system(1)|skin(1)	6						GGACATGCCTTCACGCCATTC	0.458												
CHRM2	1129	broad.mit.edu	37	7	136700105	136700105	+	Missense_Mutation	SNP	A	A	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr7:136700105A>T	uc003vtf.1	+	4	1116	c.493A>T	c.(493-495)ATT>TTT	p.I165F	CHRM2_uc003vtg.1_Missense_Mutation_p.I165F|CHRM2_uc003vtj.1_Missense_Mutation_p.I165F|CHRM2_uc003vtk.1_Missense_Mutation_p.I165F|CHRM2_uc003vtl.1_Missense_Mutation_p.I165F|CHRM2_uc003vtm.1_Missense_Mutation_p.I165F|CHRM2_uc003vti.1_Missense_Mutation_p.I165F|CHRM2_uc003vto.1_Missense_Mutation_p.I165F|CHRM2_uc003vtn.1_Missense_Mutation_p.I165F|uc003vtp.1_Intron	NM_001006630	NP_001006631	P08172	ACM2_HUMAN	cholinergic receptor, muscarinic 2	165	Extracellular (By similarity).				activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|nervous system development|regulation of heart contraction|response to virus	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|protein binding			ovary(4)|central_nervous_system(1)	5					Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium(DB01334)|Doxacurium chloride(DB01135)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508)	CTGGCAGTTCATTGTAGGGGT	0.507												
SVOPL	136306	broad.mit.edu	37	7	138312947	138312947	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr7:138312947G>A	uc011kqh.1	-	10	1025	c.1025C>T	c.(1024-1026)TCT>TTT	p.S342F	SVOPL_uc003vue.2_Missense_Mutation_p.S190F	NM_001139456	NP_001132928	Q8N434	SVOPL_HUMAN	SVOP-like isoform 1	342						integral to membrane	transmembrane transporter activity				0						CCGATAGTCAGAGGGTGCAAA	0.552												
JHDM1D	80853	broad.mit.edu	37	7	139826486	139826486	+	Missense_Mutation	SNP	T	T	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr7:139826486T>A	uc003vvm.2	-	6	843	c.839A>T	c.(838-840)GAT>GTT	p.D280V		NM_030647	NP_085150	Q6ZMT4	KDM7_HUMAN	jumonji C domain containing histone demethylase	280	JmjC.				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)					AATGTGGAAATCTGTATAGCT	0.403												
KIAA1147	57189	broad.mit.edu	37	7	141365032	141365032	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr7:141365032C>T	uc003vwk.2	-	6	907	c.907G>A	c.(907-909)GTG>ATG	p.V303M		NM_001080392	NP_001073861	A4D1U4	LCHN_HUMAN	hypothetical protein LOC57189	303										ovary(1)	1	Melanoma(164;0.0171)					ATGTCAGCCACGTTCACGTAG	0.597												
WEE2	494551	broad.mit.edu	37	7	141408668	141408668	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr7:141408668C>T	uc003vwn.2	+	1	516	c.110C>T	c.(109-111)TCG>TTG	p.S37L	FLJ40852_uc011krh.1_Intron|FLJ40852_uc010lnm.2_Intron|FLJ40852_uc010lnn.2_Intron|FLJ40852_uc003vwm.3_Intron|FLJ40852_uc010lno.2_Intron	NM_001105558	NP_001099028	P0C1S8	WEE2_HUMAN	WEE1 homolog 2	37					egg activation|female meiosis|female pronucleus assembly|meiotic metaphase II|meiotic prophase I|mitosis|negative regulation of oocyte development|regulation of meiosis I	centrosome|nucleus	ATP binding|magnesium ion binding|non-membrane spanning protein tyrosine kinase activity|protein serine/threonine kinase activity			ovary(1)|stomach(1)	2	Melanoma(164;0.0171)					AGGGAGGCTTCGAGCCAAACC	0.468												
OR2F2	135948	broad.mit.edu	37	7	143632813	143632813	+	Missense_Mutation	SNP	C	C	G			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr7:143632813C>G	uc011ktv.1	+	1	488	c.488C>G	c.(487-489)ACC>AGC	p.T163S		NM_001004685	NP_001004685	O95006	OR2F2_HUMAN	olfactory receptor, family 2, subfamily F,	163	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(3)|skin(1)	4	Melanoma(164;0.0903)					ACTGCTATCACCTTTCAGCTG	0.522												
CUL1	8454	broad.mit.edu	37	7	148464776	148464776	+	Missense_Mutation	SNP	T	T	G			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr7:148464776T>G	uc010lpg.2	+	9	1544	c.1018T>G	c.(1018-1020)TTG>GTG	p.L340V	CUL1_uc003wey.2_Missense_Mutation_p.L340V|CUL1_uc003wez.2_Missense_Mutation_p.L230V	NM_003592	NP_003583	Q13616	CUL1_HUMAN	cullin 1	340					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein ubiquitination|S phase of mitotic cell cycle|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	cytosol|nucleoplasm|SCF ubiquitin ligase complex	ubiquitin protein ligase binding			lung(1)	1	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00291)			GAAAAAACTGTTGGAGACACA	0.393												
ABP1	26	broad.mit.edu	37	7	150554663	150554663	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr7:150554663A>G	uc003why.1	+	3	5323	c.1105A>G	c.(1105-1107)ACC>GCC	p.T369A	ABP1_uc003whz.1_Missense_Mutation_p.T369A|ABP1_uc003wia.1_Missense_Mutation_p.T369A	NM_001091	NP_001082	P19801	ABP1_HUMAN	amiloride binding protein 1 precursor	369					amine metabolic process	extracellular space|peroxisome	copper ion binding|diamine oxidase activity|heparin binding|histamine oxidase activity|methylputrescine oxidase activity|primary amine oxidase activity|propane-1,3-diamine oxidase activity|quinone binding			ovary(2)|breast(2)|skin(2)	6	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Amiloride(DB00594)|Spermine(DB00127)	AGGCATGCAGACCAAGTACCT	0.622												
ACCN3	9311	broad.mit.edu	37	7	150747861	150747861	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr7:150747861C>T	uc003win.2	+	4	1198	c.830C>T	c.(829-831)CCG>CTG	p.P277L	ACCN3_uc003wio.2_Missense_Mutation_p.P277L|ACCN3_uc003wip.2_Missense_Mutation_p.P277L|ACCN3_uc003wiq.2_RNA	NM_004769	NP_004760	Q9UHC3	ACCN3_HUMAN	amiloride-sensitive cation channel 3 isoform a	277	Extracellular (Potential).				sensory perception|signal transduction	cytoplasm|integral to plasma membrane	ligand-gated sodium channel activity	p.P277S(1)		ovary(1)|central_nervous_system(1)	2			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TTCCTGCCACCGCCCTGGGGC	0.557												
MLL3	58508	broad.mit.edu	37	7	151891595	151891595	+	Silent	SNP	A	A	G			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr7:151891595A>G	uc003wla.2	-	29	4656	c.4437T>C	c.(4435-4437)AGT>AGC	p.S1479S	MLL3_uc003wkz.2_Silent_p.S540S	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 3	1479					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)		ATGGTCGTGAACTCTGATTGA	0.393			N		medulloblastoma							
HTR5A	3361	broad.mit.edu	37	7	154863162	154863162	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr7:154863162T>C	uc003wlu.1	+	1	617	c.553T>C	c.(553-555)TAC>CAC	p.Y185H	uc011kvt.1_5'UTR|uc003wlt.2_5'UTR	NM_024012	NP_076917	P47898	5HT5A_HUMAN	5-hydroxytryptamine receptor 5A	185	Extracellular (By similarity).					integral to plasma membrane	serotonin receptor activity			ovary(2)|large_intestine(1)	3	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)		GGGAGAGACGTACTCTGAGGG	0.632												
NOM1	64434	broad.mit.edu	37	7	156745292	156745292	+	Missense_Mutation	SNP	G	G	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr7:156745292G>T	uc003wmy.2	+	2	1127	c.1112G>T	c.(1111-1113)AGG>ATG	p.R371M		NM_138400	NP_612409	Q5C9Z4	NOM1_HUMAN	nucleolar protein with MIF4G domain 1	371	MIF4G.				RNA metabolic process	nucleolus	protein binding				0	Ovarian(565;0.218)	all_hematologic(28;0.0749)	OV - Ovarian serous cystadenocarcinoma(82;0.00301)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)		CTACTTAACAGGTGACCTTGT	0.413												
WDR60	55112	broad.mit.edu	37	7	158711457	158711457	+	Silent	SNP	T	T	C			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr7:158711457T>C	uc003woe.3	+	15	1976	c.1818T>C	c.(1816-1818)GAT>GAC	p.D606D	WDR60_uc010lqv.2_RNA|WDR60_uc010lqw.2_Silent_p.D238D	NM_018051	NP_060521	Q8WVS4	WDR60_HUMAN	WD repeat domain 60	606										ovary(2)|breast(1)|central_nervous_system(1)	4	Ovarian(565;0.152)	all_cancers(7;1.25e-09)|all_epithelial(9;0.000894)|all_hematologic(28;0.00603)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)|STAD - Stomach adenocarcinoma(7;0.18)		TGGAAGAGGATCGCTTGGCAG	0.428												
ZNF596	169270	broad.mit.edu	37	8	195403	195403	+	Missense_Mutation	SNP	A	A	C			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr8:195403A>C	uc003wot.2	+	6	844	c.556A>C	c.(556-558)AGT>CGT	p.S186R	ZNF596_uc003wou.2_Missense_Mutation_p.S85R|ZNF596_uc003wov.2_Missense_Mutation_p.S186R|ZNF596_uc003wow.2_Missense_Mutation_p.S186R	NM_173539	NP_775810	Q8TC21	ZN596_HUMAN	zinc finger protein 596	186					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		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)		TAGACCACACAGTGTGACTCA	0.378												
DLGAP2	9228	broad.mit.edu	37	8	1649527	1649527	+	Silent	SNP	G	G	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr8:1649527G>A	uc003wpl.2	+	12	2980	c.2883G>A	c.(2881-2883)GCG>GCA	p.A961A	DLGAP2_uc003wpm.2_Silent_p.A947A	NM_004745	NP_004736	Q9P1A6	DLGP2_HUMAN	discs large-associated protein 2	1040					neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding				0		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		CCGAGCGCGCGGACAGCATCG	0.701												
MYOM2	9172	broad.mit.edu	37	8	2044108	2044108	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr8:2044108G>A	uc003wpx.3	+	18	2285	c.2147G>A	c.(2146-2148)GGG>GAG	p.G716E	MYOM2_uc011kwi.1_Missense_Mutation_p.G141E	NM_003970	NP_003961	P54296	MYOM2_HUMAN	myomesin 2	716	Fibronectin type-III 4.				muscle contraction	myosin filament	structural constituent of muscle			ovary(4)|central_nervous_system(1)|skin(1)	6		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		CATCCTTATGGGATTACGCTC	0.617												
MFHAS1	9258	broad.mit.edu	37	8	8749149	8749149	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr8:8749149T>C	uc003wsj.1	-	1	1983	c.1420A>G	c.(1420-1422)ATC>GTC	p.I474V		NM_004225	NP_004216	Q9Y4C4	MFHA1_HUMAN	malignant fibrous histiocytoma amplified	474	Roc.										0		Hepatocellular(245;0.217)		COAD - Colon adenocarcinoma(149;0.124)		TCATACACGATGAACCGCAGG	0.602												
PSD3	23362	broad.mit.edu	37	8	18729499	18729499	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr8:18729499C>T	uc003wza.2	-	3	978	c.875G>A	c.(874-876)CGC>CAC	p.R292H		NM_015310	NP_056125	Q9NYI0	PSD3_HUMAN	ADP-ribosylation factor guanine nucleotide	292					regulation of ARF protein signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	ARF guanyl-nucleotide exchange factor activity			ovary(3)	3				Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)		CCGGCCTGGGCGTCCCATGGA	0.527												
LZTS1	11178	broad.mit.edu	37	8	20110461	20110461	+	Silent	SNP	C	C	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr8:20110461C>T	uc003wzr.2	-	2	1092	c.981G>A	c.(979-981)GCG>GCA	p.A327A	LZTS1_uc010ltg.1_Silent_p.A327A	NM_021020	NP_066300	Q9Y250	LZTS1_HUMAN	leucine zipper, putative tumor suppressor 1	327	Potential.				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)		GGACCTGCTGCGCGCGCTGGC	0.677												
LZTS1	11178	broad.mit.edu	37	8	20110845	20110845	+	Silent	SNP	G	G	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr8:20110845G>T	uc003wzr.2	-	2	708	c.597C>A	c.(595-597)CCC>CCA	p.P199P	LZTS1_uc010ltg.1_Silent_p.P199P	NM_021020	NP_066300	Q9Y250	LZTS1_HUMAN	leucine zipper, putative tumor suppressor 1	199					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)		TGGGTCCCACGGGTGTGACCA	0.632												
XPO7	23039	broad.mit.edu	37	8	21835279	21835279	+	Splice_Site	SNP	A	A	G			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr8:21835279A>G	uc003xaa.3	+	8	866	c.764_splice	c.e8-2	p.A255_splice	XPO7_uc010lti.2_Splice_Site_p.A264_splice|XPO7_uc010ltk.2_Splice_Site_p.A256_splice	NM_015024	NP_055839	Q9UIA9	XPO7_HUMAN	exportin 7 isoform b						mRNA transport|protein export from nucleus|transmembrane transport	cytoplasm|nuclear pore	nuclear export signal receptor activity|protein transporter activity			ovary(1)|kidney(1)|breast(1)|central_nervous_system(1)|pancreas(1)	5				Colorectal(74;0.0187)|COAD - Colon adenocarcinoma(73;0.0724)		TTTCTTCCCCAGCCTTCTTAG	0.428												
XPO7	23039	broad.mit.edu	37	8	21846547	21846547	+	Silent	SNP	A	A	G			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr8:21846547A>G	uc003xaa.3	+	16	1923	c.1821A>G	c.(1819-1821)GAA>GAG	p.E607E	XPO7_uc010lti.2_Silent_p.E616E|XPO7_uc010ltk.2_Silent_p.E608E	NM_015024	NP_055839	Q9UIA9	XPO7_HUMAN	exportin 7 isoform b	607					mRNA transport|protein export from nucleus|transmembrane transport	cytoplasm|nuclear pore	nuclear export signal receptor activity|protein transporter activity			ovary(1)|kidney(1)|breast(1)|central_nervous_system(1)|pancreas(1)	5				Colorectal(74;0.0187)|COAD - Colon adenocarcinoma(73;0.0724)		GCCGTTGTGAACCAATCACCT	0.458												
HR	55806	broad.mit.edu	37	8	21973915	21973915	+	Silent	SNP	G	G	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr8:21973915G>A	uc003xas.2	-	18	4070	c.3405C>T	c.(3403-3405)AGC>AGT	p.S1135S	HR_uc003xat.2_Silent_p.S1080S	NM_005144	NP_005135	O43593	HAIR_HUMAN	hairless protein isoform a	1135	JmjC.						DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|ovary(1)	2		Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116)		KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)		GCTGAGTGACGCTGACTGTGC	0.627												
TNFRSF10A	8797	broad.mit.edu	37	8	23058108	23058108	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr8:23058108C>A	uc003xda.2	-	6	774	c.709G>T	c.(709-711)GGA>TGA	p.G237*		NM_003844	NP_003835	O00220	TR10A_HUMAN	tumor necrosis factor receptor superfamily,	237	Extracellular (Potential).				activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors		caspase activator activity|death receptor activity|TRAIL binding|transcription factor binding			central_nervous_system(3)|ovary(2)|skin(1)	6		Prostate(55;0.0421)|Breast(100;0.14)		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)		ATATTATGTCCATTGCCTGAG	0.512												
ADAM7	8756	broad.mit.edu	37	8	24323272	24323272	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr8:24323272A>G	uc003xeb.2	+	5	486	c.373A>G	c.(373-375)ACG>GCG	p.T125A	ADAM7_uc003xea.1_Missense_Mutation_p.T125A	NM_003817	NP_003808	Q9H2U9	ADAM7_HUMAN	a disintegrin and metalloproteinase domain 7	125	Extracellular (Potential).				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			skin(3)|ovary(1)|kidney(1)	5		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		CAGTATCAGTACGTGTAATGG	0.299												
DOCK5	80005	broad.mit.edu	37	8	25154129	25154129	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr8:25154129T>C	uc003xeg.2	+	7	708	c.571T>C	c.(571-573)TCC>CCC	p.S191P	DOCK5_uc010luf.1_RNA|DOCK5_uc003xeh.1_5'UTR|DOCK5_uc003xef.2_Missense_Mutation_p.S191P	NM_024940	NP_079216	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5	191						cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			ovary(3)	3		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		TGAGGTGGCCTCCAAAAGGAT	0.468												
GNRH1	2796	broad.mit.edu	37	8	25280721	25280721	+	Silent	SNP	A	A	G			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr8:25280721A>G	uc003xem.3	-	2	967	c.126T>C	c.(124-126)ATT>ATC	p.I42I	PPP2R2A_uc003xek.2_Intron|GNRH1_uc003xen.3_Silent_p.I42I	NM_001083111	NP_001076580	P01148	GON1_HUMAN	gonadotropin-releasing hormone 1 precursor	42					cell-cell signaling|multicellular organismal development|negative regulation of cell proliferation|signal transduction	soluble fraction	gonadotropin hormone-releasing hormone activity			large_intestine(1)	1		all_cancers(63;0.0423)|Ovarian(32;0.000626)|all_epithelial(46;0.0186)|Hepatocellular(4;0.114)|Breast(100;0.14)|Prostate(55;0.191)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0201)|Epithelial(17;1.25e-12)|Colorectal(74;0.0113)|COAD - Colon adenocarcinoma(73;0.0385)		GGAAAGAATCAATCAAATTTT	0.423												
CDCA2	157313	broad.mit.edu	37	8	25364904	25364904	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr8:25364904A>G	uc003xep.1	+	15	3201	c.2722A>G	c.(2722-2724)ATT>GTT	p.I908V	PPP2R2A_uc003xek.2_Intron|CDCA2_uc011lae.1_3'UTR|CDCA2_uc003xeq.1_Missense_Mutation_p.I893V|CDCA2_uc003xer.1_Missense_Mutation_p.I571V	NM_152562	NP_689775	Q69YH5	CDCA2_HUMAN	cell division cycle associated 2	908					cell division|mitosis	cytoplasm|nucleus					0		all_cancers(63;0.0378)|Ovarian(32;0.000878)|all_epithelial(46;0.0162)|Breast(100;0.0164)|Prostate(55;0.191)		UCEC - Uterine corpus endometrioid carcinoma (27;0.022)|Epithelial(17;1.37e-11)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0443)		TCTTGTATGGATTTCACTTCC	0.403												
PTK2B	2185	broad.mit.edu	37	8	27287640	27287640	+	Silent	SNP	A	A	G			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr8:27287640A>G	uc003xfn.1	+	11	1390	c.582A>G	c.(580-582)GCA>GCG	p.A194A	PTK2B_uc003xfo.1_Silent_p.A194A|PTK2B_uc003xfp.1_Silent_p.A194A|PTK2B_uc003xfq.1_Silent_p.A194A|PTK2B_uc010luq.1_5'Flank|PTK2B_uc003xfr.1_5'Flank	NM_173174	NP_775266	Q14289	FAK2_HUMAN	PTK2B protein tyrosine kinase 2 beta isoform a	194	FERM.				apoptosis|bone resorption|positive regulation of cell proliferation|signal complex assembly	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|signal transducer activity			lung(3)|ovary(1)|skin(1)	5		Ovarian(32;2.72e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229)		CCCACAATGCACTTGACAAGA	0.537												
EXTL3	2137	broad.mit.edu	37	8	28575031	28575031	+	Silent	SNP	G	G	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr8:28575031G>A	uc003xgz.1	+	3	2048	c.1455G>A	c.(1453-1455)GTG>GTA	p.V485V		NM_001440	NP_001431	O43909	EXTL3_HUMAN	exostoses-like 3	485	Lumenal (Potential).					integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|metal ion binding|protein binding			skin(2)	2		Ovarian(32;0.069)		KIRC - Kidney renal clear cell carcinoma(542;0.107)|Kidney(114;0.129)|Colorectal(74;0.228)		CCCTGGTGGTGCCAAAGCCTC	0.617												
TEX15	56154	broad.mit.edu	37	8	30702068	30702068	+	Missense_Mutation	SNP	T	T	G			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr8:30702068T>G	uc003xil.2	-	1	4466	c.4466A>C	c.(4465-4467)TAC>TCC	p.Y1489S		NM_031271	NP_112561	Q9BXT5	TEX15_HUMAN	testis expressed 15	1489										ovary(3)|upper_aerodigestive_tract(2)|skin(2)	7				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		TTGATTTTTGTACTCAGTATT	0.333												
WHSC1L1	54904	broad.mit.edu	37	8	38205098	38205098	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr8:38205098T>C	uc003xli.2	-	2	1110	c.592A>G	c.(592-594)AAA>GAA	p.K198E	WHSC1L1_uc011lbm.1_Missense_Mutation_p.K198E|WHSC1L1_uc010lwe.2_Missense_Mutation_p.K198E|WHSC1L1_uc003xlj.2_Missense_Mutation_p.K198E	NM_023034	NP_075447	Q9BZ95	NSD3_HUMAN	WHSC1L1 protein isoform long	198					cell differentiation|cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome	histone-lysine N-methyltransferase activity|zinc ion binding			breast(1)	1	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)			TTGCTTTTTTTCCTCTTTTCT	0.393			T	NUP98	AML							
PRKDC	5591	broad.mit.edu	37	8	48740750	48740750	+	Silent	SNP	T	T	C			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr8:48740750T>C	uc003xqi.2	-	63	8613	c.8556A>G	c.(8554-8556)CCA>CCG	p.P2852P	PRKDC_uc003xqj.2_Silent_p.P2852P|PRKDC_uc011ldh.1_Intron	NM_006904	NP_008835	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic	2852	KIP-binding.				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)				AGACAAAGGGTGGAAAGAAAG	0.368								NHEJ				
PRKDC	5591	broad.mit.edu	37	8	48761849	48761849	+	Silent	SNP	C	C	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr8:48761849C>T	uc003xqi.2	-	55	7203	c.7146G>A	c.(7144-7146)GTG>GTA	p.V2382V	PRKDC_uc003xqj.2_Silent_p.V2382V|PRKDC_uc011ldh.1_Intron	NM_006904	NP_008835	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic	2382					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)				GCAGAAAGAACACAGCATTCA	0.527								NHEJ				
MCM4	4173	broad.mit.edu	37	8	48888391	48888391	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr8:48888391C>T	uc003xqk.1	+	16	2577	c.2482C>T	c.(2482-2484)CGG>TGG	p.R828W	MCM4_uc003xql.1_Missense_Mutation_p.R828W|MCM4_uc011ldi.1_Missense_Mutation_p.R815W	NM_182746	NP_877423	P33991	MCM4_HUMAN	minichromosome maintenance complex component 4	828					cell cycle checkpoint|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	MCM complex	ATP binding|DNA binding|helicase activity|protein binding			ovary(2)|skin(2)	4		all_cancers(86;0.026)|all_epithelial(80;0.000748)|Lung NSC(129;0.00327)|all_lung(136;0.00354)				TGAAGATATTCGGGGACAATC	0.308												
ST18	9705	broad.mit.edu	37	8	53126792	53126792	+	Missense_Mutation	SNP	G	G	A	rs145495470		TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr8:53126792G>A	uc003xqz.2	-	2	182	c.26C>T	c.(25-27)ACG>ATG	p.T9M	ST18_uc011ldq.1_Translation_Start_Site|ST18_uc011ldr.1_Translation_Start_Site|ST18_uc011lds.1_Translation_Start_Site|ST18_uc003xra.2_Missense_Mutation_p.T9M|ST18_uc003xrb.2_Missense_Mutation_p.T9M|ST18_uc010lyb.2_RNA	NM_014682	NP_055497	O60284	ST18_HUMAN	suppression of tumorigenicity 18	9						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(4)|skin(1)	5		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				AGTACGCAGCGTTTTATCTTC	0.428												
RB1CC1	9821	broad.mit.edu	37	8	53569170	53569170	+	Silent	SNP	T	T	C			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr8:53569170T>C	uc003xre.3	-	15	3777	c.3219A>G	c.(3217-3219)GAA>GAG	p.E1073E	RB1CC1_uc003xrf.3_Silent_p.E1073E	NM_014781	NP_055596	Q8TDY2	RBCC1_HUMAN	Rb1-inducible coiled coil protein 1 isoform 1	1073	Potential.				autophagy|cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	protein binding			ovary(8)|upper_aerodigestive_tract(1)|large_intestine(1)|skin(1)	11		all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023)				AAATTTTTATTTCATCAGTTT	0.368												
TGS1	96764	broad.mit.edu	37	8	56699432	56699432	+	Silent	SNP	A	A	G			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr8:56699432A>G	uc003xsj.3	+	4	1362	c.975A>G	c.(973-975)AAA>AAG	p.K325K	TGS1_uc010lyh.2_Silent_p.K229K	NM_024831	NP_079107	Q96RS0	TGS1_HUMAN	trimethylguanosine synthase homolog	325					cellular lipid metabolic process|ncRNA metabolic process|regulation of transcription, DNA-dependent|RNA capping|spliceosomal snRNP assembly|transcription, DNA-dependent	Cajal body|cytosol	RNA trimethylguanosine synthase activity			ovary(1)|lung(1)|breast(1)	3		all_lung(136;0.119)|all_epithelial(80;0.125)|Lung NSC(129;0.147)	Epithelial(17;0.00027)|all cancers(17;0.00251)			GTAACATAAAACTGAATTCAG	0.363												
FAM110B	90362	broad.mit.edu	37	8	59059811	59059811	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr8:59059811G>A	uc003xtj.1	+	5	1902	c.1022G>A	c.(1021-1023)GGC>GAC	p.G341D		NM_147189	NP_671722	Q8TC76	F110B_HUMAN	hypothetical protein LOC90362	341						microtubule organizing center|mitochondrion|nucleus				large_intestine(1)	1		all_epithelial(80;0.025)|all_lung(136;0.0274)|Lung NSC(129;0.0355)				GTGCCGTATGGCATTTCTGCC	0.468												
NSMAF	8439	broad.mit.edu	37	8	59502072	59502072	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr8:59502072A>G	uc003xtt.2	-	26	2364	c.2150T>C	c.(2149-2151)GTT>GCT	p.V717A	NSMAF_uc011lee.1_Missense_Mutation_p.V748A	NM_003580	NP_003571	Q92636	FAN_HUMAN	neutral sphingomyelinase (N-SMase) activation	717	WD 3.				ceramide metabolic process	cytoplasm|soluble fraction	protein binding|receptor signaling protein activity			ovary(1)	1		all_lung(136;0.174)|Lung NSC(129;0.2)				GATCTTACTAACAGCATCATC	0.368												
TOX	9760	broad.mit.edu	37	8	59739434	59739434	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr8:59739434T>C	uc003xtw.1	-	6	1173	c.952A>G	c.(952-954)AAG>GAG	p.K318E		NM_014729	NP_055544	O94900	TOX_HUMAN	thymus high mobility group box protein TOX	318	HMG box.					nucleus	DNA binding			kidney(2)|lung(1)|skin(1)	4		all_cancers(86;0.165)|Myeloproliferative disorder(644;0.00452)|all_lung(136;0.036)|Lung NSC(129;0.0464)|all_epithelial(80;0.0607)				TACTCCTTCTTCGCAGCCTCG	0.423												
CHD7	55636	broad.mit.edu	37	8	61654743	61654743	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr8:61654743A>G	uc003xue.2	+	2	1229	c.752A>G	c.(751-753)CAC>CGC	p.H251R		NM_017780	NP_060250	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	251					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)			TCCTTGCGTCACTCGGTGCAG	0.587												
BHLHE22	27319	broad.mit.edu	37	8	65494211	65494211	+	Silent	SNP	C	C	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr8:65494211C>T	uc003xvi.2	+	1	1398	c.864C>T	c.(862-864)CTC>CTT	p.L288L	LOC401463_uc003xvh.2_Intron	NM_152414	NP_689627	Q8NFJ8	BHE22_HUMAN	basic helix-loop-helix domain containing, class	288	Helix-loop-helix motif.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus					0						CGCTGCTGCTCGCCAAGAACT	0.667												
C8orf46	254778	broad.mit.edu	37	8	67405952	67405952	+	Missense_Mutation	SNP	G	G	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr8:67405952G>T	uc003xwg.2	+	1	462	c.69G>T	c.(67-69)AAG>AAT	p.K23N	C8orf46_uc003xwh.2_RNA|C8orf46_uc011let.1_Missense_Mutation_p.K23N	NM_152765	NP_689978	Q8TAG6	CH046_HUMAN	hypothetical protein LOC254778	23										skin(2)	2			Epithelial(68;0.0224)|BRCA - Breast invasive adenocarcinoma(89;0.0508)|all cancers(69;0.0558)|OV - Ovarian serous cystadenocarcinoma(28;0.226)			TTCCTTCCAAGGGTGAGTGAA	0.498												
C8orf45	157777	broad.mit.edu	37	8	67796162	67796162	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr8:67796162C>T	uc003xwz.3	+	9	1177	c.1006C>T	c.(1006-1008)CGT>TGT	p.R336C	C8orf45_uc003xwv.2_Missense_Mutation_p.R336C|C8orf45_uc011lev.1_Missense_Mutation_p.R336C|C8orf45_uc011lew.1_Missense_Mutation_p.R267C|C8orf45_uc011lex.1_Missense_Mutation_p.R94C|C8orf45_uc003xwy.3_Missense_Mutation_p.R336C	NM_173518	NP_775789	Q4G0Z9	CH045_HUMAN	minichromosome maintenance complex	336					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)			GACAACTGACCGTAACAAGGA	0.353												
C8orf45	157777	broad.mit.edu	37	8	67803170	67803170	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr8:67803170A>G	uc003xwz.3	+	10	1315	c.1144A>G	c.(1144-1146)ACT>GCT	p.T382A	C8orf45_uc011lev.1_Missense_Mutation_p.T382A|C8orf45_uc011lew.1_Missense_Mutation_p.T313A|C8orf45_uc011lex.1_Missense_Mutation_p.T140A|C8orf45_uc003xwy.3_Missense_Mutation_p.T382A	NM_173518	NP_775789	Q4G0Z9	CH045_HUMAN	minichromosome maintenance complex	382					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)			AATTTTTCCCACTCTATCCAG	0.408												
LRRC67	286187	broad.mit.edu	37	8	67922971	67922971	+	Silent	SNP	G	G	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr8:67922971G>A	uc003xxc.2	-	5	676	c.531C>T	c.(529-531)GAC>GAT	p.D177D		NM_001013626	NP_001013648	Q7Z4L9	LRC67_HUMAN	leucine rich repeat containing 67	177	LRR 7.										0						GAAGTTGGTTGTCAACGGCTA	0.279												
SLCO5A1	81796	broad.mit.edu	37	8	70744467	70744467	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr8:70744467A>G	uc003xyl.2	-	2	1149	c.442T>C	c.(442-444)TAC>CAC	p.Y148H	SLCO5A1_uc010lzb.2_Missense_Mutation_p.Y148H|SLCO5A1_uc011lfa.1_RNA|SLCO5A1_uc003xyk.2_Missense_Mutation_p.Y148H|SLCO5A1_uc010lzc.2_Missense_Mutation_p.Y148H	NM_030958	NP_112220	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family,	148	Helical; Name=1; (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)			CTGCTCAGGTACCCAGAGACC	0.552											OREG0018815	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
TRPA1	8989	broad.mit.edu	37	8	72967924	72967924	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr8:72967924G>A	uc003xza.2	-	11	1536	c.1361C>T	c.(1360-1362)GCC>GTC	p.A454V		NM_007332	NP_015628	O75762	TRPA1_HUMAN	ankyrin-like protein 1	454	ANK 11.|Cytoplasmic (Potential).					integral to plasma membrane				ovary(4)|lung(1)|kidney(1)	6			Epithelial(68;0.223)		Menthol(DB00825)	CCCTTACCTGGCTGCAAAATG	0.383												
TRPA1	8989	broad.mit.edu	37	8	72981394	72981394	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr8:72981394T>C	uc003xza.2	-	3	483	c.308A>G	c.(307-309)CAT>CGT	p.H103R		NM_007332	NP_015628	O75762	TRPA1_HUMAN	ankyrin-like protein 1	103	Cytoplasmic (Potential).|ANK 2.					integral to plasma membrane				ovary(4)|lung(1)|kidney(1)	6			Epithelial(68;0.223)		Menthol(DB00825)	TACAGCACAATGCAGAGGGGT	0.393												
KCNB2	9312	broad.mit.edu	37	8	73849583	73849583	+	Missense_Mutation	SNP	G	G	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr8:73849583G>T	uc003xzb.2	+	3	2581	c.1993G>T	c.(1993-1995)GGC>TGC	p.G665C		NM_004770	NP_004761	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related	665	Cytoplasmic (Potential).				regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			skin(3)|large_intestine(1)|pancreas(1)|ovary(1)|central_nervous_system(1)	7	Breast(64;0.137)		Epithelial(68;0.105)			TGCCAGGGATGGCACGCTGGA	0.562												
PI15	51050	broad.mit.edu	37	8	75737657	75737657	+	Missense_Mutation	SNP	G	G	A	rs141788887	byFrequency	TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr8:75737657G>A	uc003yal.2	+	2	352	c.173G>A	c.(172-174)CGG>CAG	p.R58Q	uc003yak.1_Intron|PI15_uc003yam.2_Missense_Mutation_p.R58Q	NM_015886	NP_056970	O43692	PI15_HUMAN	protease inhibitor 15 preproprotein	58						extracellular region	peptidase inhibitor activity			central_nervous_system(2)|ovary(1)	3	Breast(64;0.137)		BRCA - Breast invasive adenocarcinoma(89;0.104)|Epithelial(68;0.118)			AAAGCCAGGCGGAAGCGCTAC	0.448												
ZFHX4	79776	broad.mit.edu	37	8	77768496	77768496	+	Silent	SNP	C	C	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr8:77768496C>T	uc003yav.2	+	10	9591	c.9204C>T	c.(9202-9204)AAC>AAT	p.N3068N	ZFHX4_uc003yau.1_Silent_p.N3113N|ZFHX4_uc003yaw.1_Silent_p.N3068N	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	zinc finger homeodomain 4	3068	Pro-rich.					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)			CCGGAATGAACGGTCCATCCT	0.517										HNSCC(33;0.089)		
PEX2	5828	broad.mit.edu	37	8	77896243	77896243	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr8:77896243C>T	uc003yax.2	-	4	630	c.172G>A	c.(172-174)GCG>ACG	p.A58T	PEX2_uc003yay.2_Missense_Mutation_p.A58T|PEX2_uc003yaz.2_Missense_Mutation_p.A58T	NM_000318	NP_000309	P28328	PEX2_HUMAN	peroxin 2	58					peroxisome organization	integral to peroxisomal membrane	protein binding|zinc ion binding			ovary(1)	1						CATAAGCACGCTTTCACCTCT	0.438												
WWP1	11059	broad.mit.edu	37	8	87393036	87393036	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr8:87393036C>T	uc003ydt.2	+	4	432	c.152C>T	c.(151-153)ACG>ATG	p.T51M	WWP1_uc010mai.2_Translation_Start_Site	NM_007013	NP_008944	Q9H0M0	WWP1_HUMAN	WW domain containing E3 ubiquitin protein ligase	51	C2.				central nervous system development|entry of virus into host cell|negative regulation of transcription, DNA-dependent|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|signal transduction	cytoplasm|nucleus|plasma membrane|ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			lung(1)|liver(1)	2						GGAGAAATTACGAAAACAGCA	0.343												
CNGB3	54714	broad.mit.edu	37	8	87591466	87591466	+	Missense_Mutation	SNP	C	C	G			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr8:87591466C>G	uc003ydx.2	-	16	1842	c.1796G>C	c.(1795-1797)GGA>GCA	p.G599A	CNGB3_uc010maj.2_Missense_Mutation_p.G456A	NM_019098	NP_061971	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3	599	Cytoplasmic (Potential).|cGMP (By similarity).				signal transduction|visual perception	integral to membrane	cGMP binding			ovary(2)|pancreas(1)	3						GTTTCCTCCTCCTGCTGCTAG	0.413												
RIPK2	8767	broad.mit.edu	37	8	90784971	90784971	+	Silent	SNP	A	A	G			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr8:90784971A>G	uc003yee.2	+	6	1082	c.768A>G	c.(766-768)CCA>CCG	p.P256P	RIPK2_uc003yef.2_Silent_p.P119P	NM_003821	NP_003812	O43353	RIPK2_HUMAN	receptor-interacting serine-threonine kinase 2	256	Protein kinase.				activation of MAPK activity|anti-apoptosis|apoptosis|inflammatory response|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein ubiquitination|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|CARD domain binding|LIM domain binding|protein homodimerization activity|protein serine/threonine kinase activity|signal transducer activity			ovary(2)	2			BRCA - Breast invasive adenocarcinoma(11;0.0474)			AAAGTTTGCCATATGATATAC	0.363												
CDH17	1015	broad.mit.edu	37	8	95142918	95142918	+	Missense_Mutation	SNP	G	G	T	rs141222335	by1000genomes	TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr8:95142918G>T	uc003ygh.2	-	17	2459	c.2334C>A	c.(2332-2334)CAC>CAA	p.H778Q	CDH17_uc011lgo.1_Intron|CDH17_uc011lgp.1_Missense_Mutation_p.H778Q	NM_004063	NP_004054	Q12864	CAD17_HUMAN	cadherin 17 precursor	778	Extracellular (Potential).					integral to membrane	calcium ion binding			ovary(5)|skin(1)	6	Breast(36;4.65e-06)		BRCA - Breast invasive adenocarcinoma(8;0.00691)			TCCCAGTCTGGTGACCTGCTG	0.448												
RAD54B	25788	broad.mit.edu	37	8	95384421	95384421	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr8:95384421T>C	uc003ygk.2	-	15	2808	c.2710A>G	c.(2710-2712)ACC>GCC	p.T904A		NM_012415	NP_036547	O95073	FSBP_HUMAN	RAD54 homolog B	Error:Variant_position_missing_in_O95073_after_alignment					double-strand break repair via homologous recombination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA translocase activity|protein binding			kidney(2)|lung(1)|skin(1)	4	Breast(36;4.5e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00217)			GCTTGAGTGGTTATATTCTGA	0.299								Direct_reversal_of_damage|Homologous_recombination				
ESRP1	54845	broad.mit.edu	37	8	95680231	95680231	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr8:95680231G>A	uc003ygq.3	+	10	1169	c.986G>A	c.(985-987)CGC>CAC	p.R329H	ESRP1_uc003ygr.3_Missense_Mutation_p.R329H|ESRP1_uc003ygs.3_Missense_Mutation_p.R329H|ESRP1_uc003ygt.3_Missense_Mutation_p.R329H|ESRP1_uc003ygu.3_Missense_Mutation_p.R329H|ESRP1_uc003ygv.2_Missense_Mutation_p.R169H|ESRP1_uc003ygw.2_Missense_Mutation_p.R169H	NM_017697	NP_060167	Q6NXG1	ESRP1_HUMAN	RNA binding motif protein 35A isoform 1	329	RRM 2.				mRNA processing|regulation of RNA splicing|RNA splicing	nucleus|plasma membrane	mRNA binding|nucleotide binding		ESRP1/RAF1(4)	prostate(4)	4						GTCATTGTCCGCATGCGGGGG	0.488												
DPY19L4	286148	broad.mit.edu	37	8	95800209	95800209	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr8:95800209G>A	uc003ygx.2	+	18	2060	c.1936G>A	c.(1936-1938)GCT>ACT	p.A646T		NM_181787	NP_861452	Q7Z388	D19L4_HUMAN	dpy-19-like 4	646						integral to membrane				ovary(2)	2	Breast(36;3.85e-06)					TGTAGAGGATGCTATCTGCAA	0.348												
POP1	10940	broad.mit.edu	37	8	99170251	99170251	+	Missense_Mutation	SNP	C	C	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr8:99170251C>A	uc003yij.3	+	16	2927	c.2827C>A	c.(2827-2829)CTG>ATG	p.L943M	POP1_uc011lgv.1_Missense_Mutation_p.L943M|POP1_uc003yik.2_Missense_Mutation_p.L943M	NM_001145860	NP_001139332	Q99575	POP1_HUMAN	processing of precursor 1	943					tRNA 5'-leader removal|tRNA catabolic process	nucleolar ribonuclease P complex|ribonuclease MRP complex	identical protein binding|ribonuclease MRP activity|ribonuclease P activity			ovary(1)|breast(1)	2	Breast(36;1.78e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.145)			GCAGGAAGCTCTGACTCTAGG	0.493												
KCNS2	3788	broad.mit.edu	37	8	99440298	99440298	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr8:99440298C>T	uc003yin.2	+	2	441	c.91C>T	c.(91-93)CGC>TGC	p.R31C		NM_020697	NP_065748	Q9ULS6	KCNS2_HUMAN	potassium voltage-gated channel,	31	Cytoplasmic (Potential).					voltage-gated potassium channel complex	voltage-gated potassium channel activity			ovary(1)	1	Breast(36;2.4e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.0448)			GAGGAGGCTGCGCTCGCACAC	0.647												
VPS13B	157680	broad.mit.edu	37	8	100108587	100108587	+	Silent	SNP	T	T	C			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr8:100108587T>C	uc003yiv.2	+	4	450	c.339T>C	c.(337-339)GCT>GCC	p.A113A	VPS13B_uc003yiw.2_Silent_p.A113A|VPS13B_uc003yit.2_Silent_p.A113A|VPS13B_uc003yiu.1_Silent_p.A113A|VPS13B_uc003yis.2_Silent_p.A113A|VPS13B_uc011lgy.1_5'UTR	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13B isoform 5	113					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)			GTAGTACTGCTGAGAGCACAA	0.393												
VPS13B	157680	broad.mit.edu	37	8	100133550	100133550	+	Silent	SNP	T	T	C			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr8:100133550T>C	uc003yiv.2	+	8	1194	c.1083T>C	c.(1081-1083)GAT>GAC	p.D361D	VPS13B_uc003yiw.2_Silent_p.D361D|VPS13B_uc003yit.2_Silent_p.D361D|VPS13B_uc003yiu.1_Silent_p.D361D|VPS13B_uc003yis.2_Silent_p.D361D|VPS13B_uc011lgy.1_Silent_p.D237D	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13B isoform 5	361					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)			GTTATGACGATGGCGAGGAAG	0.443												
UBR5	51366	broad.mit.edu	37	8	103292631	103292631	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr8:103292631T>C	uc003ykr.1	-	42	6025	c.5992A>G	c.(5992-5994)ACC>GCC	p.T1998A	UBR5_uc003yks.1_Missense_Mutation_p.T1998A	NM_015902	NP_056986	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin	1998					cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding			lung(16)|ovary(4)|large_intestine(3)|breast(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)	28	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			CTTTGATTGGTGTCATCATCA	0.358												
SYBU	55638	broad.mit.edu	37	8	110656869	110656869	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr8:110656869C>T	uc003ynj.3	-	1	183	c.20G>A	c.(19-21)AGC>AAC	p.S7N	SYBU_uc003yni.3_5'Flank|SYBU_uc003ynk.3_5'UTR|SYBU_uc010mco.2_Missense_Mutation_p.S7N|SYBU_uc003ynl.3_Missense_Mutation_p.S7N|SYBU_uc010mcp.2_Missense_Mutation_p.S7N|SYBU_uc010mcq.2_Missense_Mutation_p.S7N|SYBU_uc003yno.3_Intron|SYBU_uc010mcr.2_Missense_Mutation_p.S7N|SYBU_uc003ynm.3_Missense_Mutation_p.S7N|SYBU_uc003ynn.3_Missense_Mutation_p.S7N|SYBU_uc010mcs.2_Intron|SYBU_uc010mct.2_Missense_Mutation_p.S7N|SYBU_uc010mcu.2_Missense_Mutation_p.S7N|SYBU_uc003ynp.3_Intron|SYBU_uc010mcv.2_Missense_Mutation_p.S7N|uc003ynq.1_Intron	NM_001099754	NP_001093224	Q9NX95	SYBU_HUMAN	Golgi-localized syntaphilin-related protein	7	Sufficient for interaction with KIF5B.					cytoplasmic membrane-bounded vesicle|cytoskeleton|Golgi membrane|integral to membrane				ovary(1)	1						CCTTACCTTGCTCTCGCGGAG	0.736												
TRPS1	7227	broad.mit.edu	37	8	116430589	116430589	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr8:116430589T>C	uc003ynz.2	-	5	3212	c.2753A>G	c.(2752-2754)AAC>AGC	p.N918S	TRPS1_uc011lhy.1_Missense_Mutation_p.N922S|TRPS1_uc003yny.2_Missense_Mutation_p.N931S|TRPS1_uc010mcy.2_Missense_Mutation_p.N918S	NM_014112	NP_054831	Q9UHF7	TRPS1_HUMAN	zinc finger transcription factor TRPS1	918	GATA-type.				negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)|skin(2)|pancreas(1)|lung(1)|kidney(1)	7	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			GCCACACGCGTTGCATACATA	0.483									Langer-Giedion_syndrome			
TAF2	6873	broad.mit.edu	37	8	120795639	120795639	+	Silent	SNP	A	A	G			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr8:120795639A>G	uc003you.2	-	16	2364	c.2094T>C	c.(2092-2094)GCT>GCC	p.A698A		NM_003184	NP_003175	Q6P1X5	TAF2_HUMAN	TBP-associated factor 2	698					G2/M transition of mitotic cell cycle|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor TFIID complex|transcription factor TFTC complex	metallopeptidase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			large_intestine(2)|ovary(2)|kidney(1)|skin(1)	6	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			GACAGAAGCAAGCTGACATTC	0.353												
TAF2	6873	broad.mit.edu	37	8	120818521	120818521	+	Splice_Site	SNP	A	A	G			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr8:120818521A>G	uc003you.2	-	4	688	c.418_splice	c.e4+1	p.E140_splice		NM_003184	NP_003175	Q6P1X5	TAF2_HUMAN	TBP-associated factor 2						G2/M transition of mitotic cell cycle|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor TFIID complex|transcription factor TFTC complex	metallopeptidase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			large_intestine(2)|ovary(2)|kidney(1)|skin(1)	6	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			TTGGTGCTTTACCATCAACGT	0.368												
SNTB1	6641	broad.mit.edu	37	8	121554212	121554212	+	Silent	SNP	A	A	G			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr8:121554212A>G	uc010mdg.2	-	6	1588	c.1362T>C	c.(1360-1362)CGT>CGC	p.R454R		NM_021021	NP_066301	Q13884	SNTB1_HUMAN	basic beta 1 syntrophin	454					muscle contraction	cell junction|cytoplasm|cytoskeleton|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|calmodulin binding			skin(5)	5	Lung NSC(37;4.46e-09)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)		STAD - Stomach adenocarcinoma(47;0.00503)			GTATGGTCAAACGGCACTCCT	0.418												
HAS2	3037	broad.mit.edu	37	8	122641434	122641434	+	Silent	SNP	A	A	G			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr8:122641434A>G	uc003yph.2	-	2	685	c.147T>C	c.(145-147)TAT>TAC	p.Y49Y		NM_005328	NP_005319	Q92819	HAS2_HUMAN	hyaluronan synthase 2	49	Helical; Name=2; (Potential).					integral to plasma membrane	hyaluronan synthase activity		HAS2/PLAG1(10)	soft_tissue(10)|ovary(5)	15	Lung NSC(37;3.12e-08)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)|all_neural(195;0.142)		STAD - Stomach adenocarcinoma(47;0.00503)			AAAAGGCACCATACAGTCCAA	0.413												
ZHX2	22882	broad.mit.edu	37	8	123964129	123964129	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr8:123964129G>A	uc003ypk.1	+	3	946	c.379G>A	c.(379-381)GAC>AAC	p.D127N		NM_014943	NP_055758	Q9Y6X8	ZHX2_HUMAN	zinc fingers and homeoboxes 2	127	C2H2-type 2.					cytoplasm|nucleus|plasma membrane	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|skin(1)	2	Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105)		STAD - Stomach adenocarcinoma(47;0.00527)			CTCCCTATCCGACCACAACTC	0.478												
FAM83A	84985	broad.mit.edu	37	8	124204041	124204041	+	Splice_Site	SNP	A	A	G			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr8:124204041A>G	uc003ypv.2	+	3	2495	c.481_splice	c.e3-2	p.V161_splice	FAM83A_uc003ypw.2_Splice_Site_p.V161_splice|FAM83A_uc003ypy.2_Intron|FAM83A_uc003ypx.2_Splice_Site_p.V161_splice|FAM83A_uc003ypz.2_Splice_Site_p.V161_splice	NM_032899	NP_116288	Q86UY5	FA83A_HUMAN	hypothetical protein LOC84985 isoform a											ovary(3)|skin(1)	4	Lung NSC(37;1.55e-09)|Ovarian(258;0.0205)		STAD - Stomach adenocarcinoma(47;0.00527)			GCCCTGGCCCAGGTCCTGGTC	0.562												
ZHX1	11244	broad.mit.edu	37	8	124266020	124266020	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr8:124266020A>G	uc003yqe.2	-	3	2597	c.2167T>C	c.(2167-2169)TAC>CAC	p.Y723H	C8orf76_uc003yqd.2_Intron|ZHX1_uc003yqf.2_Missense_Mutation_p.Y723H|ZHX1_uc003yqg.2_Intron|ZHX1_uc010mdi.2_Missense_Mutation_p.Y723H	NM_007222	NP_009153	Q9UKY1	ZHX1_HUMAN	zinc fingers and homeoboxes 1	723					negative regulation of transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1	Lung NSC(37;1.25e-09)|Ovarian(258;0.0154)		STAD - Stomach adenocarcinoma(47;0.00527)			TAGTAGTAGTACCATTTCAAG	0.468												
ATAD2	29028	broad.mit.edu	37	8	124340720	124340720	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr8:124340720G>A	uc003yqh.3	-	25	3686	c.3578C>T	c.(3577-3579)GCC>GTC	p.A1193V	ATAD2_uc011lii.1_Missense_Mutation_p.A984V|ATAD2_uc003yqi.3_RNA	NM_014109	NP_054828	Q6PL18	ATAD2_HUMAN	ATPase family, AAA domain containing 2	1193					regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleus	ATP binding|ATPase activity			ovary(2)	2	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			GTGATCTATGGCATTCTGGCT	0.408												
FER1L6	654463	broad.mit.edu	37	8	125131154	125131154	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr8:125131154C>T	uc003yqw.2	+	40	5565	c.5359C>T	c.(5359-5361)CGA>TGA	p.R1787*	uc003yqy.1_Intron	NM_001039112	NP_001034201	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6	1787	Cytoplasmic (Potential).					integral to membrane				ovary(5)|skin(5)|central_nervous_system(1)	11	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			TGGAAAAGCCCGAAAGGAGCC	0.498												
SQLE	6713	broad.mit.edu	37	8	126011817	126011817	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr8:126011817C>T	uc011liq.1	+	1	1098	c.172C>T	c.(172-174)CAG>TAG	p.Q58*		NM_003129	NP_003120	Q14534	ERG1_HUMAN	squalene epoxidase	58				Q -> R (in Ref. 1; BAA22372).	cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome	flavin adenine dinucleotide binding|squalene monooxygenase activity			ovary(1)|breast(1)	2	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)		Butenafine(DB01091)|Naftifine(DB00735)|Terbinafine(DB00857)	CGGGCGCCAGCAGAGCGGCTC	0.602												
SQLE	6713	broad.mit.edu	37	8	126021227	126021227	+	Silent	SNP	A	A	G			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr8:126021227A>G	uc011liq.1	+	5	1763	c.837A>G	c.(835-837)CCA>CCG	p.P279P		NM_003129	NP_003120	Q14534	ERG1_HUMAN	squalene epoxidase	279					cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome	flavin adenine dinucleotide binding|squalene monooxygenase activity			ovary(1)|breast(1)	2	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)		Butenafine(DB01091)|Naftifine(DB00735)|Terbinafine(DB00857)	TCCATGCTCCACTGACTGTTG	0.383												
FAM49B	51571	broad.mit.edu	37	8	130861526	130861526	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr8:130861526T>C	uc003yss.2	-	13	1352	c.803A>G	c.(802-804)CAT>CGT	p.H268R	FAM49B_uc003yst.2_Missense_Mutation_p.H268R|FAM49B_uc003ysu.2_Missense_Mutation_p.H268R|FAM49B_uc003ysv.2_Missense_Mutation_p.H122R|FAM49B_uc003ysw.2_Missense_Mutation_p.H268R|FAM49B_uc003ysx.2_Missense_Mutation_p.H268R|FAM49B_uc003ysy.1_Missense_Mutation_p.H268R	NM_016623	NP_057707	Q9NUQ9	FA49B_HUMAN	hypothetical protein LOC51571	268											0	Ovarian(5;0.000567)|Esophageal squamous(12;0.00693)|Acute lymphoblastic leukemia(118;0.155)		LUAD - Lung adenocarcinoma(14;0.0989)			TCCCACTGGATGTACGTGGTC	0.358												
ASAP1	50807	broad.mit.edu	37	8	131124450	131124450	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr8:131124450C>T	uc003yta.1	-	23	2319	c.2291G>A	c.(2290-2292)CGG>CAG	p.R764Q	ASAP1_uc003ysz.1_Missense_Mutation_p.R575Q|ASAP1_uc011liw.1_Missense_Mutation_p.R757Q	NM_018482	NP_060952	Q9ULH1	ASAP1_HUMAN	development and differentiation enhancing factor	764					cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction	cytoplasm|membrane	ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding			ovary(4)	4						ATAGGAGAGCCGCTGTTTGTC	0.597												
ASAP1	50807	broad.mit.edu	37	8	131172152	131172152	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr8:131172152T>C	uc003yta.1	-	11	996	c.968A>G	c.(967-969)TAT>TGT	p.Y323C	ASAP1_uc003ysz.1_Missense_Mutation_p.Y134C|ASAP1_uc011liw.1_Missense_Mutation_p.Y316C	NM_018482	NP_060952	Q9ULH1	ASAP1_HUMAN	development and differentiation enhancing factor	323					cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction	cytoplasm|membrane	ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding			ovary(4)	4						TTCACTGCCATATTCCTTATT	0.438												
ASAP1	50807	broad.mit.edu	37	8	131226861	131226861	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr8:131226861T>C	uc003yta.1	-	4	374	c.346A>G	c.(346-348)ACC>GCC	p.T116A	ASAP1_uc011liw.1_Missense_Mutation_p.T109A	NM_018482	NP_060952	Q9ULH1	ASAP1_HUMAN	development and differentiation enhancing factor	116					cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction	cytoplasm|membrane	ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding			ovary(4)	4						ACAAACGCGGTGCCAAGGTCG	0.353												
KCNQ3	3786	broad.mit.edu	37	8	133142242	133142242	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr8:133142242A>G	uc003ytj.2	-	15	2111	c.1886T>C	c.(1885-1887)GTT>GCT	p.V629A	KCNQ3_uc010mdt.2_Missense_Mutation_p.V617A	NM_004519	NP_004510	O43525	KCNQ3_HUMAN	potassium voltage-gated channel KQT-like protein	629					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)			CATGTCCTGAACCTGGAAAAT	0.443												
ST3GAL1	6482	broad.mit.edu	37	8	134477028	134477028	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr8:134477028T>C	uc003yuk.2	-	7	1505	c.676A>G	c.(676-678)ATT>GTT	p.I226V	ST3GAL1_uc003yum.2_Missense_Mutation_p.I226V	NM_173344	NP_775479	Q11201	SIA4A_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase	226	Lumenal (Potential).				protein glycosylation	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,3-sialyltransferase activity				0	all_epithelial(106;1.53e-23)|Lung NSC(106;3.15e-07)|all_lung(105;1.26e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.00721)			CACTGGGAAATGGTGCCCGTG	0.642												
PSCA	8000	broad.mit.edu	37	8	143763436	143763436	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr8:143763436C>A	uc003ywu.2	+	3	313	c.258C>A	c.(256-258)TGC>TGA	p.C86*	uc003ywt.1_5'Flank	NM_005672	NP_005663	O43653	PSCA_HUMAN	prostate stem cell antigen preproprotein	77											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)					ACATCACGTGCTGTGACACCG	0.627												
ZC3H3	23144	broad.mit.edu	37	8	144620193	144620193	+	Silent	SNP	G	G	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr8:144620193G>T	uc003yyd.2	-	2	1373	c.1344C>A	c.(1342-1344)ATC>ATA	p.I448I		NM_015117	NP_055932	Q8IXZ2	ZC3H3_HUMAN	zinc finger CCCH-type containing 3	448					mRNA polyadenylation|poly(A)+ mRNA export from nucleus|regulation of mRNA export from nucleus	nucleus	nucleic acid binding|zinc ion binding			skin(1)	1	all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107)			TGCGTCTCCGGATGATCTTGG	0.617												
FAM83H	286077	broad.mit.edu	37	8	144811260	144811260	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr8:144811260A>G	uc003yzk.2	-	4	683	c.614T>C	c.(613-615)TTC>TCC	p.F205S	FAM83H_uc010mfk.1_5'Flank	NM_198488	NP_940890	Q6ZRV2	FA83H_HUMAN	FAM83H	205					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)			TACGCGCAGGAACTGGGGAGG	0.627												
SCRIB	23513	broad.mit.edu	37	8	144891811	144891811	+	Silent	SNP	G	G	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr8:144891811G>A	uc003yzp.1	-	14	1615	c.1608C>T	c.(1606-1608)CCC>CCT	p.P536P	SCRIB_uc003yzo.1_Silent_p.P536P	NM_015356	NP_056171	Q14160	SCRIB_HUMAN	scribble isoform b	536	Sufficient for targeting to adherens junction and to inhibit cell proliferation.				activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction	cell-cell adherens junction|Scrib-APC-beta-catenin complex	protein binding			urinary_tract(1)|ovary(1)|kidney(1)|central_nervous_system(1)|pancreas(1)	5	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;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			ACGGGCCCTCGGGCTCAGCCT	0.662												
PLEC	5339	broad.mit.edu	37	8	144993053	144993053	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr8:144993053G>A	uc003zaf.1	-	32	11517	c.11347C>T	c.(11347-11349)CGC>TGC	p.R3783C	PLEC_uc003zab.1_Missense_Mutation_p.R3646C|PLEC_uc003zac.1_Missense_Mutation_p.R3650C|PLEC_uc003zad.2_Missense_Mutation_p.R3646C|PLEC_uc003zae.1_Missense_Mutation_p.R3614C|PLEC_uc003zag.1_Missense_Mutation_p.R3624C|PLEC_uc003zah.2_Missense_Mutation_p.R3632C|PLEC_uc003zaj.2_Missense_Mutation_p.R3673C	NM_201380	NP_958782	Q15149	PLEC_HUMAN	plectin isoform 1	3783	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						GCCGTGAGGCGGCGGCGCACG	0.602												
PLEC	5339	broad.mit.edu	37	8	144994803	144994803	+	Silent	SNP	G	G	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr8:144994803G>T	uc003zaf.1	-	32	9767	c.9597C>A	c.(9595-9597)GCC>GCA	p.A3199A	PLEC_uc003zab.1_Silent_p.A3062A|PLEC_uc003zac.1_Silent_p.A3066A|PLEC_uc003zad.2_Silent_p.A3062A|PLEC_uc003zae.1_Silent_p.A3030A|PLEC_uc003zag.1_Silent_p.A3040A|PLEC_uc003zah.2_Silent_p.A3048A|PLEC_uc003zaj.2_Silent_p.A3089A	NM_201380	NP_958782	Q15149	PLEC_HUMAN	plectin isoform 1	3199	Globular 2.|Plectin 8.				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						GCCCGGTGCCGGCCTGGGCTT	0.652												
PLEC	5339	broad.mit.edu	37	8	144999422	144999422	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr8:144999422G>A	uc003zaf.1	-	31	5256	c.5086C>T	c.(5086-5088)CGA>TGA	p.R1696*	PLEC_uc003zab.1_Nonsense_Mutation_p.R1559*|PLEC_uc003zac.1_Nonsense_Mutation_p.R1563*|PLEC_uc003zad.2_Nonsense_Mutation_p.R1559*|PLEC_uc003zae.1_Nonsense_Mutation_p.R1527*|PLEC_uc003zag.1_Nonsense_Mutation_p.R1537*|PLEC_uc003zah.2_Nonsense_Mutation_p.R1545*|PLEC_uc003zaj.2_Nonsense_Mutation_p.R1586*	NM_201380	NP_958782	Q15149	PLEC_HUMAN	plectin isoform 1	1696	Central fibrous rod domain.|Potential.				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						TGCCGCGCTCGCTCCACCTCG	0.741												
GRINA	2907	broad.mit.edu	37	8	145066963	145066963	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr8:145066963A>G	uc003zan.1	+	7	1236	c.1070A>G	c.(1069-1071)AAC>AGC	p.N357S	GRINA_uc003zao.1_Missense_Mutation_p.N357S|GRINA_uc003zap.1_Missense_Mutation_p.N357S	NM_001009184	NP_001009184	Q7Z429	GRINA_HUMAN	glutamate receptor, ionotropic, N-methyl	357	Helical; (Potential).					integral to membrane				central_nervous_system(1)	1	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.31e-40)|Epithelial(56;1.16e-39)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GACATCATCAACATCTTCCTG	0.597												
OPLAH	26873	broad.mit.edu	37	8	145107485	145107485	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr8:145107485A>G	uc003zar.3	-	23	3252	c.3170T>C	c.(3169-3171)GTG>GCG	p.V1057A		NM_017570	NP_060040	O14841	OPLA_HUMAN	5-oxoprolinase (ATP-hydrolysing)	1057							5-oxoprolinase (ATP-hydrolyzing) activity|ATP binding				0	all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		L-Glutamic Acid(DB00142)	GACCACGCGCACTGGCGCCAG	0.731												
COMMD5	28991	broad.mit.edu	37	8	146076258	146076258	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr8:146076258G>A	uc003zem.2	-	2	597	c.466C>T	c.(466-468)CGG>TGG	p.R156W	COMMD5_uc003zel.1_RNA|COMMD5_uc003zen.2_Missense_Mutation_p.R156W|COMMD5_uc003zeo.3_Missense_Mutation_p.R156W|COMMD5_uc010mgf.2_Missense_Mutation_p.R156W	NM_001081004	NP_001074473	Q9GZQ3	COMD5_HUMAN	COMM domain containing 5	156	COMM.					nucleus	protein binding			ovary(1)	1	all_cancers(97;1.14e-11)|all_epithelial(106;7.74e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		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)			ACCCGCCACCGAAAGTCAGCA	0.637												
DOCK8	81704	broad.mit.edu	37	9	382611	382611	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr9:382611A>G	uc003zgf.2	+	22	2816	c.2704A>G	c.(2704-2706)AGC>GGC	p.S902G	DOCK8_uc010mgu.2_Missense_Mutation_p.S204G|DOCK8_uc010mgv.2_Missense_Mutation_p.S834G|DOCK8_uc010mgw.1_Missense_Mutation_p.S204G|DOCK8_uc003zgk.2_Missense_Mutation_p.S360G	NM_203447	NP_982272	Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	902					blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			ovary(3)|central_nervous_system(3)	6		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		CCGGGTGATGAGCAGCAGTAA	0.577												
KANK1	23189	broad.mit.edu	37	9	711872	711872	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr9:711872A>G	uc003zgl.1	+	7	1755	c.1106A>G	c.(1105-1107)CAA>CGA	p.Q369R	KANK1_uc003zgm.2_Missense_Mutation_p.Q369R|KANK1_uc003zgn.1_Missense_Mutation_p.Q369R|KANK1_uc003zgo.1_Missense_Mutation_p.Q369R|KANK1_uc003zgp.1_Missense_Mutation_p.Q369R|KANK1_uc003zgq.2_Missense_Mutation_p.Q211R|KANK1_uc003zgr.1_Missense_Mutation_p.Q211R|KANK1_uc003zgs.1_Missense_Mutation_p.Q211R	NM_015158	NP_055973	Q14678	KANK1_HUMAN	KN motif and ankyrin repeat domains 1 isoform a	369	Potential.				negative regulation of actin filament polymerization	cytoplasm				ovary(2)|central_nervous_system(1)|pancreas(1)	4		Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128)		Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222)		GAGTTCCGGCAACTTACAGCA	0.552												
SMARCA2	6595	broad.mit.edu	37	9	2123850	2123850	+	Silent	SNP	A	A	G	rs141291951		TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr9:2123850A>G	uc003zhc.2	+	27	3993	c.3894A>G	c.(3892-3894)GAA>GAG	p.E1298E	SMARCA2_uc003zhd.2_Silent_p.E1298E|SMARCA2_uc010mha.2_Silent_p.E1231E	NM_003070	NP_003061	P51531	SMCA2_HUMAN	SWI/SNF-related matrix-associated	1298	Poly-Glu.				chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development	intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex	ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding			ovary(2)|central_nervous_system(1)	3		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		CCTGTGAAGAAGAGGAGGAGA	0.562												
RANBP6	26953	broad.mit.edu	37	9	6014994	6014994	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr9:6014994G>A	uc003zjr.2	-	1	625	c.614C>T	c.(613-615)GCA>GTA	p.A205V	RANBP6_uc011lmf.1_Intron|RANBP6_uc003zjs.2_Intron	NM_012416	NP_036548	O60518	RNBP6_HUMAN	RAN binding protein 6	205	Poly-Ala.				protein transport	cytoplasm|nucleus	binding			ovary(3)	3		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00522)|Lung(218;0.101)		AAATGCAGCTGCAGCTCTAGC	0.423												
GLDC	2731	broad.mit.edu	37	9	6645245	6645245	+	Silent	SNP	C	C	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr9:6645245C>T	uc003zkc.2	-	1	448	c.255G>A	c.(253-255)GCG>GCA	p.A85A		NM_000170	NP_000161	P23378	GCSP_HUMAN	glycine dehydrogenase (decarboxylating)	85					glycine catabolic process	mitochondrion	electron carrier activity|glycine dehydrogenase (decarboxylating) activity|lyase activity|pyridoxal phosphate binding			ovary(2)	2		Acute lymphoblastic leukemia(23;0.161)		GBM - Glioblastoma multiforme(50;0.0421)|Lung(218;0.134)	Glycine(DB00145)|Pyridoxal Phosphate(DB00114)	AGGTCCTTACCGCCAGCCCCA	0.706												
IFNA7	3444	broad.mit.edu	37	9	21201793	21201793	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr9:21201793T>C	uc003zop.1	-	1	412	c.372A>G	c.(370-372)ATA>ATG	p.I124M	IFNA14_uc003zoo.1_Intron	NM_021057	NP_066401	P01567	IFNA7_HUMAN	interferon, alpha 7 precursor	124					blood coagulation|cell-cell signaling|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|interferon-alpha/beta receptor binding				0				GBM - Glioblastoma multiforme(5;4.75e-197)|Lung(24;1.26e-23)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		CAACCTCCTGTATCACACATG	0.458												
CDKN2A	1029	broad.mit.edu	37	9	21971106	21971106	+	Silent	SNP	G	G	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr9:21971106G>A	uc003zpk.2	-	2	464	c.252C>T	c.(250-252)GAC>GAT	p.D84D	MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.2_3'UTR|CDKN2A_uc010miu.2_RNA|CDKN2A_uc003zpl.2_Missense_Mutation_p.R140C	NM_000077	NP_000068	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A isoform 1	84	ANK 3.		D -> E (in a bladder tumor).|D -> N (in an esophagus, a head and neck and a lung tumor).|D -> H (in non-small cell lung carcinoma).		cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein binding|protein kinase binding	p.0?(1112)|p.?(13)|p.D84Y(9)|p.D84V(4)|p.D84N(3)|p.D84fs*63(2)|p.D84G(2)|p.D84H(2)|p.H83fs*2(2)|p.D84_F90del(1)|p.D84D(1)|p.V82_E88del(1)|p.V82_G89>G(1)|p.D84fs*0(1)|p.E61_L94del(1)|p.D84fs*36(1)|p.R137fs*48(1)|p.A68fs*3(1)|p.P81_A85del(1)|p.R80fs*34(1)		haematopoietic_and_lymphoid_tissue(647)|skin(419)|upper_aerodigestive_tract(414)|central_nervous_system(381)|lung(325)|pancreas(244)|oesophagus(230)|urinary_tract(225)|pleura(94)|liver(91)|soft_tissue(79)|bone(77)|ovary(76)|biliary_tract(71)|stomach(46)|breast(46)|kidney(39)|NS(28)|thyroid(24)|cervix(23)|meninges(18)|genital_tract(15)|endometrium(13)|prostate(11)|autonomic_ganglia(10)|salivary_gland(10)|large_intestine(9)|adrenal_gland(6)|eye(4)|vulva(2)|small_intestine(1)	3678		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		CCCGGGCAGCGTCGTGCACGG	0.741		17							Uveal_Melanoma_Familial|Familial_Malignant_Melanoma_and_Tumors_of_the_Nervous_System|Hereditary_Melanoma	HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)		
LRRC19	64922	broad.mit.edu	37	9	26995768	26995768	+	Silent	SNP	A	A	G			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr9:26995768A>G	uc003zqh.2	-	5	975	c.864T>C	c.(862-864)TTT>TTC	p.F288F	IFT74_uc010mja.2_Intron|IFT74_uc010mjb.2_Intron|IFT74_uc003zqf.3_Intron|IFT74_uc003zqg.3_Intron	NM_022901	NP_075052	Q9H756	LRC19_HUMAN	leucine rich repeat containing 19 precursor	288	Helical; (Potential).					integral to membrane					0		all_neural(11;1.81e-09)		Lung(218;1.06e-05)|LUSC - Lung squamous cell carcinoma(38;0.0001)		TGATAGCAATAAAAATGAGAA	0.373												
KIF24	347240	broad.mit.edu	37	9	34297077	34297077	+	Silent	SNP	C	C	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr9:34297077C>T	uc003zua.3	-	4	969	c.849G>A	c.(847-849)GCG>GCA	p.A283A	KIF24_uc010mkb.2_Silent_p.A314A	NM_194313	NP_919289	Q5T7B8	KIF24_HUMAN	kinesin family member 24	283	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			central_nervous_system(1)	1			LUSC - Lung squamous cell carcinoma(29;0.0107)			GATTGGTGCACGCCTCACCAA	0.308												
IL11RA	3590	broad.mit.edu	37	9	34658640	34658640	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr9:34658640G>A	uc003zvi.2	+	8	2126	c.770G>A	c.(769-771)CGT>CAT	p.R257H	IL11RA_uc011loq.1_Missense_Mutation_p.R257H|IL11RA_uc003zvj.2_Missense_Mutation_p.R257H|IL11RA_uc003zvk.2_Missense_Mutation_p.R257H|IL11RA_uc010mke.2_Missense_Mutation_p.R139H|IL11RA_uc003zvl.2_RNA	NM_004512	NP_004503	Q14626	I11RA_HUMAN	interleukin 11 receptor, alpha isoform 1	257	Extracellular (Potential).|Fibronectin type-III 2.					integral to plasma membrane	cytokine receptor activity			skin(1)	1	all_epithelial(49;0.102)		STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.174)	Oprelvekin(DB00038)	CTCAAGTTCCGTTTGCAGTAC	0.642												
UNC13B	10497	broad.mit.edu	37	9	35380612	35380612	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr9:35380612G>A	uc003zwq.2	+	17	2396	c.2104G>A	c.(2104-2106)GAG>AAG	p.E702K	UNC13B_uc003zwr.2_Missense_Mutation_p.E702K	NM_006377	NP_006368	O14795	UN13B_HUMAN	UNC13 (C. elegans)-like	702					excretion|induction of apoptosis|intracellular signal transduction	cell junction|Golgi apparatus|synapse	metal ion binding|receptor activity			ovary(3)|large_intestine(1)|skin(1)	5	all_epithelial(49;0.212)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)			CCTAAGTGGCGAGATGGACGT	0.488												
UNC13B	10497	broad.mit.edu	37	9	35381108	35381108	+	Missense_Mutation	SNP	G	G	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr9:35381108G>T	uc003zwq.2	+	18	2432	c.2140G>T	c.(2140-2142)GAC>TAC	p.D714Y	UNC13B_uc003zwr.2_Missense_Mutation_p.D714Y	NM_006377	NP_006368	O14795	UN13B_HUMAN	UNC13 (C. elegans)-like	714					excretion|induction of apoptosis|intracellular signal transduction	cell junction|Golgi apparatus|synapse	metal ion binding|receptor activity			ovary(3)|large_intestine(1)|skin(1)	5	all_epithelial(49;0.212)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)			GAAGAGGACAGACAAATCAGC	0.483												
CLTA	1211	broad.mit.edu	37	9	36199078	36199078	+	Missense_Mutation	SNP	C	C	T	rs138031703		TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr9:36199078C>T	uc003zzc.2	+	3	520	c.358C>T	c.(358-360)CGC>TGC	p.R120C	CLTA_uc003zzd.2_Missense_Mutation_p.R120C|CLTA_uc003zze.2_Missense_Mutation_p.R120C|CLTA_uc011lpk.1_Missense_Mutation_p.R120C|CLTA_uc003zzf.1_RNA	NM_007096	NP_009027	P09496	CLCA_HUMAN	clathrin, light polypeptide A isoform b	120	Involved in binding clathrin heavy chain.				axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|cytosol	structural molecule activity			central_nervous_system(1)	1			STAD - Stomach adenocarcinoma(86;0.228)			ACAAATGGAACGCTTGGAAGC	0.423												
GNE	10020	broad.mit.edu	37	9	36249330	36249330	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr9:36249330C>T	uc010mlh.2	-	2	238	c.23G>A	c.(22-24)CGA>CAA	p.R8Q	CLTA_uc003zzf.1_Intron|GNE_uc010mlg.2_Missense_Mutation_p.R8Q|GNE_uc011lpl.1_Intron|GNE_uc010mli.2_Missense_Mutation_p.R39Q|GNE_uc010mlj.2_Intron	NM_005476	NP_005467	Q9Y223	GLCNE_HUMAN	UDP-N-acetylglucosamine-2-epimerase/N-	8	UDP-N-acetylglucosamine 2-epimerase.				cell adhesion|lipopolysaccharide biosynthetic process|N-acetylneuraminate metabolic process|UDP-N-acetylglucosamine metabolic process		ATP binding|N-acylmannosamine kinase activity|UDP-N-acetylglucosamine 2-epimerase activity				0			STAD - Stomach adenocarcinoma(86;0.228)			CCGCAGCTTTCGGTTATTTCC	0.363												
MELK	9833	broad.mit.edu	37	9	36589562	36589562	+	Silent	SNP	T	T	C			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr9:36589562T>C	uc003zzn.2	+	4	312	c.174T>C	c.(172-174)ATT>ATC	p.I58I	MELK_uc011lpm.1_5'UTR|MELK_uc011lpn.1_Silent_p.I58I|MELK_uc011lpo.1_5'UTR|MELK_uc010mll.2_Silent_p.I26I|MELK_uc011lpp.1_Silent_p.I58I|MELK_uc010mlm.2_Intron|MELK_uc011lpq.1_5'UTR|MELK_uc011lpr.1_Silent_p.I58I|MELK_uc011lps.1_Silent_p.I26I	NM_014791	NP_055606	Q14680	MELK_HUMAN	maternal embryonic leucine zipper kinase	58	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)			AAACGGAGATTGAGGCCTTGA	0.408												
ZBTB5	9925	broad.mit.edu	37	9	37441103	37441103	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr9:37441103C>T	uc003zzx.2	-	2	1646	c.1446G>A	c.(1444-1446)ATG>ATA	p.M482I		NM_014872	NP_055687	O15062	ZBTB5_HUMAN	zinc finger and BTB domain containing 5	482					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2				GBM - Glioblastoma multiforme(29;0.00733)|Lung(182;0.226)		TCACCTCCTGCATAGGCCTGA	0.592												
ZBTB5	9925	broad.mit.edu	37	9	37441822	37441822	+	Missense_Mutation	SNP	T	T	C	rs139375543	byFrequency	TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr9:37441822T>C	uc003zzx.2	-	2	927	c.727A>G	c.(727-729)AAT>GAT	p.N243D		NM_014872	NP_055687	O15062	ZBTB5_HUMAN	zinc finger and BTB domain containing 5	243					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2				GBM - Glioblastoma multiforme(29;0.00733)|Lung(182;0.226)		GCTTTAGGATTATCCACAATT	0.463												
APBA1	320	broad.mit.edu	37	9	72056032	72056032	+	Splice_Site	SNP	C	C	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr9:72056032C>A	uc004ahh.2	-	11	2458	c.2182_splice	c.e11-1	p.G728_splice		NM_001163	NP_001154	Q02410	APBA1_HUMAN	amyloid beta A4 precursor protein-binding,						axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission	synaptic vesicle				lung(1)	1						TCTTTAAGCCCTTAAACATGA	0.473												
PRUNE2	158471	broad.mit.edu	37	9	79318675	79318675	+	Silent	SNP	G	G	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr9:79318675G>A	uc010mpk.2	-	9	7978	c.7854C>T	c.(7852-7854)AGC>AGT	p.S2618S	PRUNE2_uc004akj.3_Silent_p.S71S|PRUNE2_uc010mpl.1_Silent_p.S71S	NM_015225	NP_056040	Q8WUY3	PRUN2_HUMAN	prune homolog 2	2618				S -> G (in Ref. 4; BAD93351 and 6; BAA20822).	apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity				0						ATCTCGTATCGCTTTTAGAAG	0.483												
GNA14	9630	broad.mit.edu	37	9	80046287	80046287	+	Silent	SNP	G	G	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr9:80046287G>T	uc004aku.2	-	4	1066	c.543C>A	c.(541-543)CCC>CCA	p.P181P		NM_004297	NP_004288	O95837	GNA14_HUMAN	G alpha 14	181	GTP (By similarity).				activation of phospholipase C activity by dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation	heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity			ovary(2)	2						TGCCGGTGGTGGGCACTCGGA	0.488												
SLC28A3	64078	broad.mit.edu	37	9	86924587	86924587	+	Silent	SNP	T	T	G			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr9:86924587T>G	uc010mpz.2	-	3	324	c.199A>C	c.(199-201)AGA>CGA	p.R67R	SLC28A3_uc011lsy.1_5'UTR|SLC28A3_uc004anu.1_Silent_p.R67R|SLC28A3_uc010mqb.2_5'UTR	NM_022127	NP_071410	Q9HAS3	S28A3_HUMAN	concentrative Na+-nucleoside cotransporter	67	Cytoplasmic (Potential).		R -> K.		nucleobase, nucleoside and nucleotide metabolic process	integral to membrane|plasma membrane	nucleoside binding			upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)|skin(1)	4						ATGTGTTCTCTGTTTCTTGGA	0.428												
DAPK1	1612	broad.mit.edu	37	9	90283523	90283523	+	Silent	SNP	G	G	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr9:90283523G>A	uc004apc.2	+	19	2073	c.1935G>A	c.(1933-1935)ACG>ACA	p.T645T	DAPK1_uc004apd.2_Silent_p.T645T|DAPK1_uc011ltg.1_Silent_p.T645T|DAPK1_uc011lth.1_Silent_p.T382T|DAPK1_uc004apf.1_Silent_p.T199T	NM_004938	NP_004929	P53355	DAPK1_HUMAN	death-associated protein kinase 1	645					apoptosis|induction of apoptosis by extracellular signals|intracellular protein kinase cascade	actin cytoskeleton|cytoplasm	ATP binding|calmodulin binding|protein serine/threonine kinase activity			ovary(1)|breast(1)	2						ACGGAAAGACGGCAGAAGATC	0.463									Chronic_Lymphocytic_Leukemia_Familial_Clustering_of			
CDK20	23552	broad.mit.edu	37	9	90589317	90589317	+	Silent	SNP	G	G	A	rs138136908		TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr9:90589317G>A	uc004apr.2	-	1	351	c.45C>T	c.(43-45)CAC>CAT	p.H15H	CDK20_uc004aps.2_Silent_p.H15H|CDK20_uc004apt.2_Silent_p.H15H|CDK20_uc004apu.2_Silent_p.H15H	NM_001039803	NP_001034892	Q8IZL9	CDK20_HUMAN	cell cycle related kinase isoform 3	15	Protein kinase.|ATP (By similarity).				cell division|multicellular organismal development	cilium|mitochondrion|nucleus	ATP binding|cyclin-dependent protein kinase activity			skin(1)	1						AGACGATGCCGTGGGCGCCCT	0.682												
S1PR3	1903	broad.mit.edu	37	9	91617003	91617003	+	Silent	SNP	C	C	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr9:91617003C>T	uc004aqe.2	+	2	1284	c.888C>T	c.(886-888)GTC>GTT	p.V296V		NM_005226	NP_005217	Q99500	S1PR3_HUMAN	sphingosine-1-phosphate receptor 3	296	Helical; Name=7; (By similarity).				anatomical structure morphogenesis|elevation of cytosolic calcium ion concentration|inflammatory response|positive regulation of cell proliferation	integral to plasma membrane	lipid binding|lysosphingolipid and lysophosphatidic acid receptor activity			ovary(2)|lung(1)|central_nervous_system(1)|skin(1)	5						TGAACCCGGTCATCTACACGC	0.637												
SEMA4D	10507	broad.mit.edu	37	9	91994223	91994223	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr9:91994223T>C	uc004aqo.1	-	18	2557	c.1985A>G	c.(1984-1986)CAG>CGG	p.Q662R	SEMA4D_uc011ltm.1_Intron|SEMA4D_uc011ltn.1_Intron|SEMA4D_uc011lto.1_Intron|SEMA4D_uc004aqp.1_Missense_Mutation_p.Q660R	NM_006378	NP_006369	Q92854	SEM4D_HUMAN	semaphorin 4D isoform 1	662	Extracellular (Potential).				anti-apoptosis|axon guidance|cell adhesion|immune response	integral to membrane|plasma membrane	receptor activity|receptor binding			ovary(1)|pancreas(1)	2						ACCTTCTGTCTGAACAACTGA	0.577												
NOL8	55035	broad.mit.edu	37	9	95077286	95077286	+	Missense_Mutation	SNP	G	G	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr9:95077286G>T	uc004arv.2	-	7	1958	c.1621C>A	c.(1621-1623)CCT>ACT	p.P541T	NOL8_uc010mqw.2_RNA|NOL8_uc004arw.2_Intron|NOL8_uc011ltw.1_Missense_Mutation_p.P473T	NM_017948	NP_060418	Q76FK4	NOL8_HUMAN	nucleolar protein 8	541					DNA replication|positive regulation of cell growth	nucleolus	nucleotide binding|protein binding|RNA binding			ovary(1)	1						ATCTCCGCAGGACGAATACAC	0.502												
BICD2	23299	broad.mit.edu	37	9	95482718	95482718	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr9:95482718G>A	uc004aso.1	-	4	983	c.926C>T	c.(925-927)GCC>GTC	p.A309V	BICD2_uc004asp.1_Missense_Mutation_p.A309V	NM_015250	NP_056065	Q8TD16	BICD2_HUMAN	bicaudal D homolog 2 isoform 2	309					microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule	cytoplasmic vesicle|cytoskeleton|Golgi apparatus|plasma membrane	Rab GTPase binding			skin(1)	1						TGGCAGCTTGGCCAGGCCGCC	0.627												
FGD3	89846	broad.mit.edu	37	9	95780428	95780428	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr9:95780428T>C	uc004asw.2	+	11	1914	c.1286T>C	c.(1285-1287)ATC>ACC	p.I429T	FGD3_uc004asx.2_Missense_Mutation_p.I429T|FGD3_uc004asz.2_Missense_Mutation_p.I429T|FGD3_uc004ata.2_Missense_Mutation_p.I232T|FGD3_uc011luc.1_Missense_Mutation_p.I32T	NM_001083536	NP_001077005	Q5JSP0	FGD3_HUMAN	FYVE, RhoGEF and PH domain containing 3	429	PH 1.				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			ovary(1)|breast(1)	2						GTGCAGGATATCGTCAAGCCA	0.463												
ZNF367	195828	broad.mit.edu	37	9	99160512	99160512	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr9:99160512A>G	uc004awf.2	-	2	860	c.505T>C	c.(505-507)TGT>CGT	p.C169R	ZNF367_uc004awg.2_Missense_Mutation_p.C169R	NM_153695	NP_710162	Q7RTV3	ZN367_HUMAN	zinc finger protein 367	169	C2H2-type 1.				regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		Acute lymphoblastic leukemia(62;0.0167)				CAGATGTTACAACGGATTCTG	0.433												
KIAA1529	57653	broad.mit.edu	37	9	100077196	100077196	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr9:100077196G>A	uc011lut.1	+	20	2085	c.1312G>A	c.(1312-1314)GAA>AAA	p.E438K	KIAA1529_uc004axe.1_Missense_Mutation_p.E438K|KIAA1529_uc004axg.1_Missense_Mutation_p.E299K|KIAA1529_uc011lus.1_Missense_Mutation_p.E256K|KIAA1529_uc010msm.1_RNA|KIAA1529_uc004axf.2_Missense_Mutation_p.E299K|KIAA1529_uc011luv.1_Missense_Mutation_p.E296K	NM_020893	NP_065944			hypothetical protein LOC57653											ovary(4)|large_intestine(2)|skin(1)	7		Acute lymphoblastic leukemia(62;0.154)				CATGCGGCCCGAAGTGTACAG	0.498												
NANS	54187	broad.mit.edu	37	9	100840602	100840602	+	Silent	SNP	T	T	C			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr9:100840602T>C	uc004ayb.2	+	5	1218	c.576T>C	c.(574-576)CCT>CCC	p.P192P	NANS_uc004ayc.2_Silent_p.P192P|TRIM14_uc004ayd.2_Intron|NANS_uc004aye.1_Silent_p.P40P	NM_018946	NP_061819	Q9NR45	SIAS_HUMAN	N-acetylneuraminic acid phosphate synthase	192					lipopolysaccharide biosynthetic process	cytoplasm	N-acetylneuraminate synthase activity|N-acylneuraminate cytidylyltransferase activity|N-acylneuraminate-9-phosphate synthase activity			skin(1)	1		Acute lymphoblastic leukemia(62;0.0559)				CGCTCCAGCCTGAGGACGTCA	0.527												
SLC44A1	23446	broad.mit.edu	37	9	108097858	108097858	+	Nonsense_Mutation	SNP	T	T	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr9:108097858T>A	uc004bcn.2	+	4	505	c.284T>A	c.(283-285)TTG>TAG	p.L95*	SLC44A1_uc010mtk.1_Nonsense_Mutation_p.L95*	NM_080546	NP_536856	Q8WWI5	CTL1_HUMAN	CDW92 antigen	95	Mitochondrial intermembrane (Potential).					integral to membrane|mitochondrial outer membrane|plasma membrane	choline transmembrane transporter activity			breast(3)|ovary(1)	4					Choline(DB00122)	GTATTCTTTTTGGATCCATGC	0.403												
ZNF462	58499	broad.mit.edu	37	9	109690181	109690181	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr9:109690181C>T	uc004bcz.2	+	3	4277	c.3988C>T	c.(3988-3990)CAT>TAT	p.H1330Y	ZNF462_uc010mto.2_Missense_Mutation_p.H1178Y|ZNF462_uc004bda.2_Missense_Mutation_p.H1178Y	NM_021224	NP_067047	Q96JM2	ZN462_HUMAN	zinc finger protein 462	1330					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(5)	5						TTTGCTCCTGCATTACCAACG	0.532												
C9orf5	23731	broad.mit.edu	37	9	111853258	111853258	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr9:111853258A>G	uc004bdt.3	-	5	1126	c.1094T>C	c.(1093-1095)GTC>GCC	p.V365A	C9orf5_uc004bds.3_RNA|C9orf5_uc004bdr.3_Missense_Mutation_p.V365A	NM_032012	NP_114401	Q9H330	CI005_HUMAN	hypothetical protein LOC23731	365	Helical; (Potential).					integral to membrane				central_nervous_system(1)	1		Myeloproliferative disorder(63;0.204)		OV - Ovarian serous cystadenocarcinoma(323;3.08e-05)|STAD - Stomach adenocarcinoma(157;0.0823)		GATCTGCATGACGACAATGGC	0.453												
EPB41L4B	54566	broad.mit.edu	37	9	111956600	111956600	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr9:111956600G>A	uc004bdz.1	-	21	2418	c.2123C>T	c.(2122-2124)GCC>GTC	p.A708V		NM_019114	NP_061987	Q9H329	E41LB_HUMAN	erythrocyte membrane protein band 4.1 like 4B	708						cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|structural constituent of cytoskeleton			ovary(1)|central_nervous_system(1)|skin(1)	3						TTGTGTGGCGGCCGTTGTGGT	0.592												
PALM2-AKAP2	445815	broad.mit.edu	37	9	112705214	112705214	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr9:112705214C>T	uc004bei.2	+	7	937	c.745C>T	c.(745-747)CAC>TAC	p.H249Y	PALM2_uc004bef.2_Missense_Mutation_p.H251Y|PALM2_uc004beg.2_Missense_Mutation_p.H217Y|PALM2_uc004beh.3_Missense_Mutation_p.H249Y|PALM2-AKAP2_uc004bek.3_Intron|PALM2-AKAP2_uc004bej.3_Intron|PALM2-AKAP2_uc004bel.1_Intron	NM_001136562	NP_001130034	Q9Y2D5	AKAP2_HUMAN	A kinase (PRKA) anchor protein 2 isoform 2	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment							enzyme binding			ovary(3)|central_nervous_system(2)|skin(1)	6						AGGAGGAGGGCACGTGTCTGA	0.463												
SUSD1	64420	broad.mit.edu	37	9	114840897	114840897	+	Silent	SNP	C	C	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr9:114840897C>T	uc004bfu.2	-	12	1715	c.1674G>A	c.(1672-1674)CCG>CCA	p.P558P	SUSD1_uc010mui.2_Silent_p.P558P|SUSD1_uc010muj.2_Silent_p.P558P	NM_022486	NP_071931	Q6UWL2	SUSD1_HUMAN	sushi domain containing 1 precursor	558	Extracellular (Potential).					integral to membrane	calcium ion binding				0						AGTTGGTACCCGGACGTAGGT	0.493												
KIAA1958	158405	broad.mit.edu	37	9	115337189	115337189	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr9:115337189T>C	uc004bgf.1	+	2	1004	c.829T>C	c.(829-831)TCC>CCC	p.S277P	KIAA1958_uc011lwx.1_Missense_Mutation_p.S277P	NM_133465	NP_597722	Q8N8K9	K1958_HUMAN	hypothetical protein LOC158405	277										skin(1)	1						CTCTGTGATCTCCAGACCAAT	0.537												
PRPF4	9128	broad.mit.edu	37	9	116053805	116053805	+	Silent	SNP	G	G	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr9:116053805G>A	uc004bgx.2	+	14	1484	c.1434G>A	c.(1432-1434)ACG>ACA	p.T478T	PRPF4_uc004bgy.2_Silent_p.T477T	NM_004697	NP_004688	O43172	PRP4_HUMAN	PRP4 pre-mRNA processing factor 4 homolog	478	WD 6.					Cajal body|nuclear speck|spliceosomal complex|U4/U6 snRNP	protein binding			ovary(2)|pancreas(1)	3						AGATCTGGACGCACCCAGGCT	0.512												
HDHD3	81932	broad.mit.edu	37	9	116136584	116136584	+	Silent	SNP	C	C	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr9:116136584C>T	uc004bhi.1	-	2	835	c.51G>A	c.(49-51)ACG>ACA	p.T17T	HDHD3_uc004bhj.2_Silent_p.T17T|HDHD3_uc004bhk.2_Silent_p.T17T	NM_031219	NP_112496	Q9BSH5	HDHD3_HUMAN	haloacid dehalogenase-like hydrolase domain	17							phosphoglycolate phosphatase activity|protein binding				0						GCCTGAGCAGCGTGTCCTTCA	0.662												
ZNF618	114991	broad.mit.edu	37	9	116812206	116812206	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr9:116812206A>G	uc004bid.2	+	15	2723	c.2624A>G	c.(2623-2625)TAC>TGC	p.Y875C	ZNF618_uc004bic.2_Missense_Mutation_p.Y782C|ZNF618_uc011lxi.1_Missense_Mutation_p.Y842C|ZNF618_uc011lxj.1_Missense_Mutation_p.Y843C|ZNF618_uc010mvb.2_Missense_Mutation_p.Y465C	NM_133374	NP_588615	Q5T7W0	ZN618_HUMAN	zinc finger protein 618	875					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						AATGAAGTGTACGATTACCTG	0.582												
C5	727	broad.mit.edu	37	9	123737105	123737105	+	Silent	SNP	T	T	C			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr9:123737105T>C	uc004bkv.2	-	30	3999	c.3969A>G	c.(3967-3969)TTA>TTG	p.L1323L		NM_001735	NP_001726	P01031	CO5_HUMAN	complement component 5 preproprotein	1323					activation of MAPK activity|chemotaxis|complement activation, alternative pathway|complement activation, classical pathway|cytolysis|G-protein coupled receptor protein signaling pathway|inflammatory response|negative regulation of macrophage chemotaxis|positive regulation of chemokine secretion|positive regulation vascular endothelial growth factor production	extracellular space|membrane attack complex	chemokine activity|endopeptidase inhibitor activity			ovary(2)	2				OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242)	Eculizumab(DB01257)	TATAATTATGTAAGGCACCTT	0.388												
C5	727	broad.mit.edu	37	9	123776151	123776151	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr9:123776151G>A	uc004bkv.2	-	17	2287	c.2257C>T	c.(2257-2259)CAC>TAC	p.H753Y	C5_uc010mvm.1_Missense_Mutation_p.H753Y	NM_001735	NP_001726	P01031	CO5_HUMAN	complement component 5 preproprotein	753					activation of MAPK activity|chemotaxis|complement activation, alternative pathway|complement activation, classical pathway|cytolysis|G-protein coupled receptor protein signaling pathway|inflammatory response|negative regulation of macrophage chemotaxis|positive regulation of chemokine secretion|positive regulation vascular endothelial growth factor production	extracellular space|membrane attack complex	chemokine activity|endopeptidase inhibitor activity			ovary(2)	2				OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242)	Eculizumab(DB01257)	TCATACTTACGTAGCCTTCCC	0.383												
DAB2IP	153090	broad.mit.edu	37	9	124535261	124535261	+	Silent	SNP	C	C	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr9:124535261C>T	uc004bln.2	+	12	2439	c.2370C>T	c.(2368-2370)GGC>GGT	p.G790G	DAB2IP_uc004blo.2_Silent_p.G694G|DAB2IP_uc004blp.2_Silent_p.G223G	NM_032552	NP_115941	Q5VWQ8	DAB2P_HUMAN	disabled homolog 2 interacting protein isoform	818					activation of JUN kinase activity|apoptosis in response to endoplasmic reticulum stress|cellular response to epidermal growth factor stimulus|cellular response to tumor necrosis factor|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast proliferation|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of Ras GTPase activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|intrinsic to internal side of plasma membrane	14-3-3 protein binding|death receptor binding|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity|protein phosphatase 2A binding|Ras GTPase activator activity|signaling adaptor activity			ovary(1)|central_nervous_system(1)	2						GCGCGCCAGGCCGGCCCCAGC	0.721												
LHX6	26468	broad.mit.edu	37	9	124979348	124979348	+	Silent	SNP	G	G	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr9:124979348G>A	uc010mvw.2	-	4	703	c.594C>T	c.(592-594)AAC>AAT	p.N198N	LHX6_uc004blx.3_Silent_p.N227N|LHX6_uc004bly.3_Silent_p.N227N	NM_014368	NP_055183	Q9UPM6	LHX6_HUMAN	LIM homeobox protein 6 isoform 1	198					cell maturation|cerebral cortex GABAergic interneuron migration|cerebral cortex radially oriented cell migration|cerebral cortex tangential migration	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0						GTTGGGTACCGTTCTCGGCGG	0.637												
ZBTB26	57684	broad.mit.edu	37	9	125681320	125681320	+	Silent	SNP	A	A	G			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr9:125681320A>G	uc004bnj.2	-	2	1106	c.894T>C	c.(892-894)TTT>TTC	p.F298F	ZBTB26_uc004bnk.2_Silent_p.F298F	NM_020924	NP_065975	Q9HCK0	ZBT26_HUMAN	zinc finger and BTB domain containing 26	298	C2H2-type 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						GTAGACACATAAAGAGTTTGT	0.463												
LHX2	9355	broad.mit.edu	37	9	126794732	126794732	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr9:126794732C>T	uc004boe.1	+	5	1706	c.967C>T	c.(967-969)CGC>TGC	p.R323C	LHX2_uc010mwi.1_Missense_Mutation_p.R331C	NM_004789	NP_004780	P50458	LHX2_HUMAN	LIM homeobox protein 2	323	Homeobox.|Nuclear localization signal (Potential).					nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding				0						CAAGTTCAGGCGCAACCTCTT	0.667												
NAIF1	203245	broad.mit.edu	37	9	130825856	130825856	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr9:130825856G>A	uc004bta.2	-	2	1054	c.835C>T	c.(835-837)CAG>TAG	p.Q279*	NAIF1_uc004bsz.2_RNA	NM_197956	NP_931045	Q69YI7	NAIF1_HUMAN	nuclear apoptosis inducing factor 1	279					apoptosis|induction of apoptosis	nucleus					0						AGGGCAGCCTGTGTGCCCTCC	0.642												
PTGES2	80142	broad.mit.edu	37	9	130884681	130884681	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr9:130884681C>T	uc004bti.2	-	6	1443	c.965G>A	c.(964-966)CGG>CAG	p.R322Q	PTGES2_uc004btj.2_RNA|PTGES2_uc004btk.2_Missense_Mutation_p.R131Q|PTGES2_uc004btl.2_Missense_Mutation_p.R131Q|PTGES2_uc004btm.2_RNA	NM_025072	NP_079348	Q9H7Z7	PGES2_HUMAN	prostaglandin E synthase 2	322	GST C-terminal.|Cytoplasmic (Potential).				cell redox homeostasis|prostaglandin biosynthetic process	Golgi membrane|integral to membrane|mitochondrion|perinuclear region of cytoplasm	electron carrier activity|prostaglandin-E synthase activity|protein binding|protein disulfide oxidoreductase activity				0						CATGAAGGGCCGGTCCTTGCC	0.647												
GOLGA2	2801	broad.mit.edu	37	9	131020067	131020067	+	Splice_Site	SNP	A	A	G	rs112572208		TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr9:131020067A>G	uc011maw.1	-	23	2543	c.2530_splice	c.e23+1	p.G844_splice	GOLGA2_uc010mxw.2_Splice_Site_p.G167_splice|GOLGA2_uc004buh.2_Intron	NM_004486	NP_004477	Q08379	GOGA2_HUMAN	Golgi autoantigen, golgin subfamily a, 2							Golgi cisterna membrane	protein binding			ovary(1)	1						CCTCCCACTCACCAATGGTGT	0.587												
TOR1A	1861	broad.mit.edu	37	9	132580879	132580879	+	Missense_Mutation	SNP	C	C	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr9:132580879C>A	uc004byl.2	-	4	745	c.668G>T	c.(667-669)AGG>ATG	p.R223M	TOR1A_uc004bym.2_RNA	NM_000113	NP_000104	O14656	TOR1A_HUMAN	torsin A precursor	223					chaperone mediated protein folding requiring cofactor|response to unfolded protein	endoplasmic reticulum lumen|nuclear membrane	ATP binding|serine-type endopeptidase activity|unfolded protein binding			central_nervous_system(1)	1		Ovarian(14;0.00556)				CTTTCCACTCCTCCAGAAATC	0.493												
LAMC3	10319	broad.mit.edu	37	9	133911697	133911697	+	Silent	SNP	C	C	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr9:133911697C>A	uc004caa.1	+	4	1052	c.954C>A	c.(952-954)GCC>GCA	p.A318A		NM_006059	NP_006050	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3 precursor	318	Laminin EGF-like 1.				cell adhesion	basement membrane|membrane	structural molecule activity			ovary(2)|pancreas(1)	3	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		GGGGCACCGCCGAGGCTGCCC	0.672												
PPAPDC3	84814	broad.mit.edu	37	9	134165682	134165682	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr9:134165682G>A	uc004cal.2	+	1	602	c.298G>A	c.(298-300)GCT>ACT	p.A100T		NM_032728	NP_116117	Q8NBV4	PPAC3_HUMAN	phosphatidic acid phosphatase type 2 domain	100	Cytoplasmic (Potential).					endoplasmic reticulum membrane|integral to membrane|nuclear envelope	hydrolase activity			breast(1)	1	all_hematologic(7;0.0119)			OV - Ovarian serous cystadenocarcinoma(145;1.22e-05)|Epithelial(140;0.000173)		GGGGGTGTGCGCTGGCCGGGC	0.647												
RAPGEF1	2889	broad.mit.edu	37	9	134471743	134471743	+	Silent	SNP	G	G	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr9:134471743G>A	uc004cbc.2	-	14	2203	c.2073C>T	c.(2071-2073)GAC>GAT	p.D691D	RAPGEF1_uc004cbb.2_Silent_p.D709D|RAPGEF1_uc010mzm.2_RNA|RAPGEF1_uc010mzn.2_Silent_p.D866D|RAPGEF1_uc004cbd.2_Silent_p.D696D	NM_005312	NP_005303	Q13905	RPGF1_HUMAN	guanine nucleotide-releasing factor 2 isoform a	691	N-terminal Ras-GEF.				activation of MAPKK activity|nerve growth factor receptor signaling pathway|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|endosome	guanyl-nucleotide exchange factor activity|SH3 domain binding			lung(3)|ovary(2)|breast(1)|skin(1)	7		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.19e-05)|Epithelial(140;0.000364)		CTCCGCGGACGTCCGGCCCGT	0.537												
SETX	23064	broad.mit.edu	37	9	135202213	135202213	+	Missense_Mutation	SNP	G	G	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr9:135202213G>T	uc004cbk.2	-	10	4955	c.4772C>A	c.(4771-4773)CCT>CAT	p.P1591H	SETX_uc004cbj.2_Missense_Mutation_p.P1210H|SETX_uc010mzt.2_Missense_Mutation_p.P1210H	NM_015046	NP_055861	Q7Z333	SETX_HUMAN	senataxin	1591					cell death|double-strand break repair|RNA processing	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity			ovary(2)|skin(1)	3		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		AGGTCTCAAAGGTTTAGATGC	0.413												
SETX	23064	broad.mit.edu	37	9	135203957	135203957	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr9:135203957G>A	uc004cbk.2	-	10	3211	c.3028C>T	c.(3028-3030)CGT>TGT	p.R1010C	SETX_uc004cbj.2_Missense_Mutation_p.R629C|SETX_uc010mzt.2_Missense_Mutation_p.R629C	NM_015046	NP_055861	Q7Z333	SETX_HUMAN	senataxin	1010					cell death|double-strand break repair|RNA processing	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity			ovary(2)|skin(1)	3		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		ACCTGTCCACGGGAGGTATCT	0.388												
BARHL1	56751	broad.mit.edu	37	9	135462862	135462862	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr9:135462862G>A	uc004cbp.1	+	2	805	c.613G>A	c.(613-615)GTG>ATG	p.V205M		NM_020064	NP_064448	Q9BZE3	BARH1_HUMAN	BarH-like homeobox 1	205	Homeobox.					nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0				OV - Ovarian serous cystadenocarcinoma(145;1.79e-06)|Epithelial(140;3.12e-05)		GTACCTGAGCGTGCAGGACCG	0.667												
SARDH	1757	broad.mit.edu	37	9	136596526	136596526	+	Silent	SNP	G	G	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr9:136596526G>A	uc004cep.3	-	4	725	c.591C>T	c.(589-591)GAC>GAT	p.D197D	SARDH_uc004ceo.2_Silent_p.D197D|SARDH_uc011mdn.1_Silent_p.D197D|SARDH_uc011mdo.1_Silent_p.D29D	NM_001134707	NP_001128179	Q9UL12	SARDH_HUMAN	sarcosine dehydrogenase precursor	197					glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|sarcosine dehydrogenase activity				0				OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)		CGTAGAGGTCGTCCACATTCA	0.642												
COL5A1	1289	broad.mit.edu	37	9	137717721	137717721	+	Missense_Mutation	SNP	T	T	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr9:137717721T>A	uc004cfe.2	+	63	5420	c.5038T>A	c.(5038-5040)TGC>AGC	p.C1680S	uc004cff.2_Intron	NM_000093	NP_000084	P20908	CO5A1_HUMAN	alpha 1 type V collagen preproprotein	1680	Fibrillar collagen NC1.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|kidney(1)	11		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		GGGGTCGACATGCGTCTTCCC	0.582												
C9orf116	138162	broad.mit.edu	37	9	138387441	138387441	+	Silent	SNP	C	C	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr9:138387441C>T	uc004cft.1	-	3	307	c.243G>A	c.(241-243)TCG>TCA	p.S81S	C9orf116_uc004cfs.1_Intron|C9orf116_uc004cfu.1_Intron	NM_001048265	NP_001041730	Q5BN46	CI116_HUMAN	hypothetical protein LOC138162 isoform 1	81											0				OV - Ovarian serous cystadenocarcinoma(145;7.39e-08)|Epithelial(140;5.19e-07)|all cancers(34;1.04e-05)		AAAATTTATTCGAATTTGGAT	0.363												
OBP2A	29991	broad.mit.edu	37	9	138440623	138440623	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr9:138440623C>T	uc004cgb.2	+	5	500	c.458C>T	c.(457-459)TCG>TTG	p.S153L	OBP2A_uc004cgc.2_Missense_Mutation_p.R175W|OBP2A_uc010nau.2_RNA|OBP2A_uc010nav.2_Missense_Mutation_p.S130L	NM_014582	NP_055397	Q9NY56	OBP2A_HUMAN	odorant binding protein 2A precursor	153					response to stimulus|sensory perception of smell	extracellular region	odorant binding|transporter activity				0				OV - Ovarian serous cystadenocarcinoma(145;3.39e-07)|Epithelial(140;1.11e-06)|all cancers(34;2.04e-05)		AAGGGACTCTCGGAGGAGGAC	0.562												
SNAPC4	6621	broad.mit.edu	37	9	139288730	139288730	+	Silent	SNP	C	C	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr9:139288730C>T	uc004chh.2	-	6	612	c.603G>A	c.(601-603)CTG>CTA	p.L201L		NM_003086	NP_003077	Q5SXM2	SNPC4_HUMAN	small nuclear RNA activating complex,	201					snRNA transcription from RNA polymerase II promoter|snRNA transcription from RNA polymerase III promoter	snRNA-activating protein complex	DNA binding|sequence-specific DNA binding transcription factor activity				0		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06)		GCAATCGCTGCAGGCGGTCAC	0.413												
NOTCH1	4851	broad.mit.edu	37	9	139395128	139395128	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr9:139395128C>T	uc004chz.2	-	31	5810	c.5810G>A	c.(5809-5811)CGC>CAC	p.R1937H		NM_017617	NP_060087	P46531	NOTC1_HUMAN	notch1 preproprotein	1937	Cytoplasmic (Potential).|ANK 1.				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)		GCGTGAGTAGCGGGCGGCCAG	0.677			T|Mis|O	TRB@	T-ALL					HNSCC(8;0.001)		
NOTCH1	4851	broad.mit.edu	37	9	139412608	139412608	+	Silent	SNP	G	G	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr9:139412608G>A	uc004chz.2	-	7	1236	c.1236C>T	c.(1234-1236)GAC>GAT	p.D412D		NM_017617	NP_060087	P46531	NOTC1_HUMAN	notch1 preproprotein	412	Extracellular (Potential).|EGF-like 11; calcium-binding (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)		ACTCATCCACGTCCTGGCTGC	0.657			T|Mis|O	TRB@	T-ALL					HNSCC(8;0.001)		
MAMDC4	158056	broad.mit.edu	37	9	139749902	139749902	+	Silent	SNP	G	G	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr9:139749902G>A	uc004cjs.2	+	12	1352	c.1302G>A	c.(1300-1302)CCG>CCA	p.P434P	MAMDC4_uc011mej.1_Intron	NM_206920	NP_996803	Q6UXC1	AEGP_HUMAN	apical early endosomal glycoprotein precursor	434	Extracellular (Potential).				protein transport	integral to membrane				breast(4)|upper_aerodigestive_tract(2)|central_nervous_system(1)	7	all_cancers(76;0.0763)|all_epithelial(76;0.198)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171)		CCCTGCAGCCGCTGCCTCCTG	0.706												
ENTPD8	377841	broad.mit.edu	37	9	140331377	140331377	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr9:140331377C>T	uc004cmw.2	-	5	683	c.499G>A	c.(499-501)GCC>ACC	p.A167T	C9orf167_uc011mew.1_Intron|ENTPD8_uc004cmx.2_Missense_Mutation_p.A167T|ENTPD8_uc004cmy.2_3'UTR	NM_001033113	NP_001028285	Q5MY95	ENTP8_HUMAN	ectonucleoside triphosphate diphosphohydrolase 8	167	Extracellular (Potential).					integral to membrane|plasma membrane	ATP binding			skin(1)	1	all_cancers(76;0.0926)			OV - Ovarian serous cystadenocarcinoma(145;0.000224)|Epithelial(140;0.000898)		GCACCTTCGGCCTGCCCGGCC	0.652												
ENTPD8	377841	broad.mit.edu	37	9	140331675	140331675	+	Missense_Mutation	SNP	G	G	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr9:140331675G>T	uc004cmw.2	-	4	515	c.331C>A	c.(331-333)CCA>ACA	p.P111T	C9orf167_uc011mew.1_Intron|ENTPD8_uc004cmx.2_Missense_Mutation_p.P111T|ENTPD8_uc004cmy.2_Missense_Mutation_p.P111T	NM_001033113	NP_001028285	Q5MY95	ENTP8_HUMAN	ectonucleoside triphosphate diphosphohydrolase 8	111	Extracellular (Potential).					integral to membrane|plasma membrane	ATP binding			skin(1)	1	all_cancers(76;0.0926)			OV - Ovarian serous cystadenocarcinoma(145;0.000224)|Epithelial(140;0.000898)		TGGGCCTCTGGGATCAGCACC	0.637												
ZMYND19	116225	broad.mit.edu	37	9	140481464	140481464	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr9:140481464G>A	uc004cno.1	-	4	536	c.314C>T	c.(313-315)CCG>CTG	p.P105L		NM_138462	NP_612471	Q96E35	ZMY19_HUMAN	zinc finger, MYND domain containing 19	105						Golgi apparatus|plasma membrane	zinc ion binding			skin(1)	1	all_cancers(76;0.106)			OV - Ovarian serous cystadenocarcinoma(145;0.000275)|Epithelial(140;0.00047)		CCAGCCCCACGGCACCAGTTG	0.672												
ASMTL	8623	broad.mit.edu	37	X	1546952	1546952	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chrX:1546952C>T	uc004cpx.1	-	7	683	c.572G>A	c.(571-573)GGG>GAG	p.G191E	ASMTL_uc011mhe.1_Missense_Mutation_p.G115E|ASMTL_uc004cpy.1_Missense_Mutation_p.G175E|ASMTL_uc011mhf.1_Missense_Mutation_p.G133E	NM_004192	NP_004183	O95671	ASML_HUMAN	acetylserotonin O-methyltransferase-like	191	MAF-like.				melatonin biosynthetic process	cytoplasm	acetylserotonin O-methyltransferase 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)				CAGAAAGTCCCCGTGTACGGA	0.637												
ASMTL	8623	broad.mit.edu	37	X	1561150	1561150	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chrX:1561150C>T	uc004cpx.1	-	2	265	c.154G>A	c.(154-156)GCT>ACT	p.A52T	ASMTL_uc011mhe.1_5'UTR|ASMTL_uc004cpy.1_Missense_Mutation_p.A52T|ASMTL_uc011mhf.1_5'UTR	NM_004192	NP_004183	O95671	ASML_HUMAN	acetylserotonin O-methyltransferase-like	52	MAF-like.				melatonin biosynthetic process	cytoplasm	acetylserotonin O-methyltransferase 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)				TACGGAGTAGCGAAGGAGGCT	0.572												
DHRSX	207063	broad.mit.edu	37	X	2343345	2343345	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chrX:2343345A>G	uc004cqf.3	-	2	159	c.110T>C	c.(109-111)GTT>GCT	p.V37A		NM_145177	NP_660160	Q8N5I4	DHRSX_HUMAN	dehydrogenase/reductase (SDR family) X-linked	37							binding|oxidoreductase activity				0		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				TGGGGGGAAAACTGAAAAAGA	0.458												
MXRA5	25878	broad.mit.edu	37	X	3248316	3248316	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chrX:3248316G>A	uc004crg.3	-	4	609	c.452C>T	c.(451-453)ACG>ATG	p.T151M		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	adlican precursor	151						extracellular region				ovary(5)|lung(1)|central_nervous_system(1)|skin(1)	8		all_lung(23;0.00031)|Lung NSC(23;0.000946)				CCTCAGAGACGTTAAGCCGTT	0.488												
DCAF8L1	139425	broad.mit.edu	37	X	27999203	27999203	+	Silent	SNP	G	G	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chrX:27999203G>A	uc004dbx.1	-	1	364	c.249C>T	c.(247-249)AGC>AGT	p.S83S		NM_001017930	NP_001017930	A6NGE4	DC8L1_HUMAN	DDB1 and CUL4 associated factor 8-like 1	83	Glu-rich.									ovary(3)|skin(1)	4						CTTCACCCATGCTTTCAAGTT	0.358												
FAM47A	158724	broad.mit.edu	37	X	34150286	34150286	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chrX:34150286C>T	uc004ddg.2	-	1	143	c.110G>A	c.(109-111)CGC>CAC	p.R37H		NM_203408	NP_981953	Q5JRC9	FA47A_HUMAN	hypothetical protein LOC158724	37										ovary(4)|central_nervous_system(1)	5						GAACCTCAGGCGCCTGTGCTT	0.592												
TMEM47	83604	broad.mit.edu	37	X	34657419	34657419	+	Silent	SNP	G	G	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chrX:34657419G>A	uc004ddh.2	-	2	571	c.312C>T	c.(310-312)TGC>TGT	p.C104C	TMEM47_uc010ngs.2_RNA	NM_031442	NP_113630	Q9BQJ4	TMM47_HUMAN	transmembrane protein 47	104						integral to membrane				lung(1)	1						GAGATCCCACGCAGATAGAAA	0.433												
BCOR	54880	broad.mit.edu	37	X	39931850	39931850	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chrX:39931850T>C	uc004den.3	-	4	3041	c.2749A>G	c.(2749-2751)ACC>GCC	p.T917A	BCOR_uc004dep.3_Missense_Mutation_p.T917A|BCOR_uc004deo.3_Missense_Mutation_p.T917A|BCOR_uc004dem.3_Missense_Mutation_p.T917A|BCOR_uc004deq.3_Missense_Mutation_p.T917A	NM_001123385	NP_001116857	Q6W2J9	BCOR_HUMAN	BCL-6 interacting corepressor isoform c	917					heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			ovary(2)|kidney(1)|central_nervous_system(1)	4						TCCTCTTGGGTTTTACCAAAA	0.527												
ARAF	369	broad.mit.edu	37	X	47430395	47430395	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chrX:47430395G>A	uc011mlq.1	+	15	1803	c.1670G>A	c.(1669-1671)CGG>CAG	p.R557Q		NM_001654	NP_001645	P10398	ARAF_HUMAN	v-raf murine sarcoma 3611 viral oncogene	557	Protein kinase.				intracellular signal transduction|negative regulation of apoptosis|positive regulation of peptidyl-serine phosphorylation		ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|receptor signaling protein activity			large_intestine(3)|lung(2)|ovary(1)|skin(1)	7					Adenosine triphosphate(DB00171)	CGGGAGGAGCGGCCCCTCTTC	0.612												
SLC38A5	92745	broad.mit.edu	37	X	48319469	48319469	+	Silent	SNP	G	G	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chrX:48319469G>A	uc010nid.2	-	13	1033	c.855C>T	c.(853-855)CCC>CCT	p.P285P	SLC38A5_uc004djk.3_Silent_p.P234P	NM_033518	NP_277053	Q8WUX1	S38A5_HUMAN	solute carrier family 38, member 5	285	Cytoplasmic (Potential).				cellular nitrogen compound metabolic process|ion transport	integral to membrane|plasma membrane				ovary(3)	3						TGCGCTTGGAGGGCCTGAGGT	0.597												
TBC1D25	4943	broad.mit.edu	37	X	48417659	48417659	+	Silent	SNP	C	C	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chrX:48417659C>T	uc004dka.1	+	5	741	c.630C>T	c.(628-630)CAC>CAT	p.H210H	TBC1D25_uc011mly.1_Silent_p.H152H|TBC1D25_uc004dkb.1_Translation_Start_Site|TBC1D25_uc011mlz.1_Translation_Start_Site|TBC1D25_uc011mma.1_Translation_Start_Site|TBC1D25_uc004dkc.1_Translation_Start_Site|TBC1D25_uc011mmb.1_Silent_p.H214H|TBC1D25_uc011mmc.1_Translation_Start_Site|TBC1D25_uc011mmd.1_Translation_Start_Site	NM_002536	NP_002527	Q3MII6	TBC25_HUMAN	TBC1 domain family, member 25	210						intracellular	Rab GTPase activator activity			ovary(1)	1						ACCTGAACCACGAGGGCCAGC	0.582												
KDM5C	8242	broad.mit.edu	37	X	53226001	53226001	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chrX:53226001T>C	uc004drz.2	-	19	3381	c.2848A>G	c.(2848-2850)ATG>GTG	p.M950V	KDM5C_uc011moc.1_RNA|KDM5C_uc011mod.1_Missense_Mutation_p.M883V|KDM5C_uc004dsa.2_Missense_Mutation_p.M949V	NM_004187	NP_004178	P41229	KDM5C_HUMAN	jumonji, AT rich interactive domain 1C isoform	950					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			kidney(9)|ovary(5)|salivary_gland(1)|autonomic_ganglia(1)|haematopoietic_and_lymphoid_tissue(1)|oesophagus(1)	18						AGTCCTCGCATGACAGCCAAG	0.642			N|F|S		clear cell renal carcinoma							
KDM5C	8242	broad.mit.edu	37	X	53230892	53230892	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chrX:53230892C>T	uc004drz.2	-	14	2434	c.1901G>A	c.(1900-1902)CGC>CAC	p.R634H	KDM5C_uc011moc.1_RNA|KDM5C_uc011mod.1_Missense_Mutation_p.R567H|KDM5C_uc004dsa.2_Missense_Mutation_p.R633H	NM_004187	NP_004178	P41229	KDM5C_HUMAN	jumonji, AT rich interactive domain 1C isoform	634	JmjC.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			kidney(9)|ovary(5)|salivary_gland(1)|autonomic_ganglia(1)|haematopoietic_and_lymphoid_tissue(1)|oesophagus(1)	18						CCGGAGCCGGCGGTAGTGCTC	0.587			N|F|S		clear cell renal carcinoma							
SMC1A	8243	broad.mit.edu	37	X	53440338	53440338	+	Silent	SNP	A	A	G			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chrX:53440338A>G	uc004dsg.2	-	4	528	c.459T>C	c.(457-459)GCT>GCC	p.A153A	SMC1A_uc011moe.1_Silent_p.A131A|SMC1A_uc011mof.1_Intron|SMC1A_uc004dsi.1_Silent_p.A19A	NM_006306	NP_006297	Q14683	SMC1A_HUMAN	structural maintenance of chromosomes 1A	153					cell cycle checkpoint|cell division|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic sister chromatid cohesion|mitotic spindle organization|negative regulation of DNA endoreduplication|nuclear mRNA splicing, via spliceosome|response to radiation|signal transduction in response to DNA damage	cohesin core heterodimer|condensed chromosome kinetochore|condensed nuclear chromosome|cytoplasm|meiotic cohesin complex|nucleoplasm	ATP binding|chromatin binding|microtubule motor activity|protein heterodimerization activity			ovary(5)|central_nervous_system(1)	6						CTTCAAATAGAGCTGTCCTCT	0.483												
WNK3	65267	broad.mit.edu	37	X	54359575	54359575	+	Missense_Mutation	SNP	G	G	C			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chrX:54359575G>C	uc004dtd.1	-	2	971	c.532C>G	c.(532-534)CTG>GTG	p.L178V	WNK3_uc004dtc.1_Missense_Mutation_p.L178V	NM_001002838	NP_001002838	Q9BYP7	WNK3_HUMAN	WNK lysine deficient protein kinase 3 isoform 2	178	Protein kinase.				intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation	adherens junction|tight junction	ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity			lung(4)|ovary(3)|kidney(2)|central_nervous_system(2)	11						CCTACCTGCAGCTCACACCAA	0.373												
FOXR2	139628	broad.mit.edu	37	X	55650330	55650330	+	Silent	SNP	G	G	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chrX:55650330G>A	uc004duo.2	+	1	498	c.186G>A	c.(184-186)AAG>AAA	p.K62K		NM_198451	NP_940853	Q6PJQ5	FOXR2_HUMAN	forkhead box R2	62					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			lung(2)|central_nervous_system(1)	3						TGCCTCAGAAGAGGAGACCCA	0.537												
AWAT2	158835	broad.mit.edu	37	X	69261725	69261725	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chrX:69261725C>T	uc004dxt.1	-	7	941	c.935G>A	c.(934-936)CGT>CAT	p.R312H		NM_001002254	NP_001002254	Q6E213	AWAT2_HUMAN	wax synthase 2	312						endoplasmic reticulum membrane|integral to membrane	long-chain-alcohol O-fatty-acyltransferase activity				0						AAACAGTTTACGTAGGGCATC	0.498												
GLA	2717	broad.mit.edu	37	X	100653412	100653412	+	Silent	SNP	G	G	A	rs151208856	byFrequency	TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chrX:100653412G>A	uc004ehl.1	-	6	1055	c.945C>T	c.(943-945)GAC>GAT	p.D315D		NM_000169	NP_000160	P06280	AGAL_HUMAN	alpha-galactosidase A precursor	315					glycoside catabolic process|glycosphingolipid catabolic process|glycosylceramide catabolic process|negative regulation of nitric oxide biosynthetic process|negative regulation of nitric-oxide synthase activity|oligosaccharide metabolic process	extracellular region|Golgi apparatus|lysosome	cation binding|protein homodimerization activity|raffinose alpha-galactosidase activity|receptor binding				0					Agalsidase beta(DB00103)	TGGCAATTACGTCCTTATCCT	0.458												
TMSB15B	286527	broad.mit.edu	37	X	103220136	103220136	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chrX:103220136T>C	uc010noz.2	+	3	239	c.125T>C	c.(124-126)GTT>GCT	p.V42A	TMSB15B_uc004elo.3_RNA|TMSB15B_uc004elq.3_RNA	NM_194324	NP_919305	P0CG34	TB15A_HUMAN	thymosin beta15b	42					actin cytoskeleton organization|sequestering of actin monomers	cytoplasm|cytoskeleton	actin binding			skin(1)	1						AAAGAGTGTGTTCAAACATCA	0.383												
IL1RAPL2	26280	broad.mit.edu	37	X	104999178	104999178	+	Missense_Mutation	SNP	G	G	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chrX:104999178G>T	uc004elz.1	+	10	1956	c.1200G>T	c.(1198-1200)AAG>AAT	p.K400N		NM_017416	NP_059112	Q9NP60	IRPL2_HUMAN	interleukin 1 receptor accessory protein-like 2	400	Cytoplasmic (Potential).|TIR.				central nervous system development|innate immune response	integral to membrane	interleukin-1, Type II, blocking receptor activity			breast(2)|ovary(1)	3						AAGACAACAAGGAATATGATG	0.383												
CXorf57	55086	broad.mit.edu	37	X	105905498	105905498	+	Silent	SNP	C	C	T	rs140805762	byFrequency	TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chrX:105905498C>T	uc004emi.3	+	12	2383	c.2232C>T	c.(2230-2232)AGC>AGT	p.S744S	CXorf57_uc004emj.3_Silent_p.S647S	NM_018015	NP_060485	Q6NSI4	CX057_HUMAN	hypothetical protein LOC55086	744										ovary(1)|lung(1)|breast(1)	3						ATTTTAAGAGCGCCCGAAGCC	0.358												
CXorf57	55086	broad.mit.edu	37	X	105912413	105912413	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chrX:105912413A>G	uc004emi.3	+	13	2441	c.2290A>G	c.(2290-2292)ATC>GTC	p.I764V	CXorf57_uc004emj.3_Missense_Mutation_p.I667V	NM_018015	NP_060485	Q6NSI4	CX057_HUMAN	hypothetical protein LOC55086	764										ovary(1)|lung(1)|breast(1)	3						TGAGATAGCAATCGATGTTGC	0.284												
TSC22D3	1831	broad.mit.edu	37	X	106960004	106960004	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chrX:106960004G>A	uc004eng.2	-	1	288	c.38C>T	c.(37-39)GCG>GTG	p.A13V	TSC22D3_uc004enf.2_5'Flank|TSC22D3_uc004enh.2_Intron|TSC22D3_uc004eni.2_Intron|TSC22D3_uc004enj.2_Intron	NM_004089	NP_004080	Q99576	T22D3_HUMAN	TSC22 domain family, member 3 isoform 2	13	AP1-binding (By similarity).						sequence-specific DNA binding transcription factor activity				0						CTGGTAGACCGCCACCTCCAT	0.483												
VSIG1	340547	broad.mit.edu	37	X	107319359	107319359	+	Silent	SNP	C	C	T	rs150102865	byFrequency	TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chrX:107319359C>T	uc004eno.2	+	6	902	c.741C>T	c.(739-741)GCC>GCT	p.A247A	VSIG1_uc011msk.1_Silent_p.A283A	NM_182607	NP_872413	Q86XK7	VSIG1_HUMAN	V-set and immunoglobulin domain containing 1	247	Helical; (Potential).					integral to membrane				upper_aerodigestive_tract(1)|ovary(1)	2						TGGTAGGTGCCGCCATCATCA	0.428												
HTR2C	3358	broad.mit.edu	37	X	114141262	114141262	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chrX:114141262G>A	uc004epu.1	+	6	1389	c.661G>A	c.(661-663)GTA>ATA	p.V221I	HTR2C_uc010nqc.1_Missense_Mutation_p.V221I|HTR2C_uc004epv.1_Missense_Mutation_p.R189H	NM_000868	NP_000859	P28335	5HT2C_HUMAN	5-hydroxytryptamine (serotonin) receptor 2C	221	Helical; Name=5; (By similarity).				cGMP biosynthetic process|ERK1 and ERK2 cascade|feeding behavior|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission	cytoplasm|integral to membrane|nucleus|plasma membrane	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|protein binding|serotonin binding|serotonin receptor activity			ovary(3)	3					Chlorprothixene(DB01239)|Clozapine(DB00363)|Dexfenfluramine(DB01191)|Fenfluramine(DB00574)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Tramadol(DB00193)|Ziprasidone(DB00246)	TGGGTCCTTCGTAGCTTTCTT	0.493												
IL13RA2	3598	broad.mit.edu	37	X	114249138	114249138	+	Splice_Site	SNP	C	C	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chrX:114249138C>T	uc004epx.2	-	4	372	c.247_splice	c.e4-1	p.T83_splice	IL13RA2_uc010nqd.1_Splice_Site_p.T83_splice	NM_000640	NP_000631	Q14627	I13R2_HUMAN	interleukin 13 receptor, alpha 2 precursor							extracellular space|integral to membrane|soluble fraction	cytokine receptor activity			upper_aerodigestive_tract(1)|ovary(1)|lung(1)	3						TAATGATGGTCTGTTTGACAA	0.358												
ZNF449	203523	broad.mit.edu	37	X	134494750	134494750	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chrX:134494750A>G	uc004eys.2	+	5	1471	c.1306A>G	c.(1306-1308)AGA>GGA	p.R436G	ZNF449_uc004eyt.2_Missense_Mutation_p.R316G|ZNF449_uc004eyu.2_Missense_Mutation_p.R242G	NM_152695	NP_689908	Q6P9G9	ZN449_HUMAN	zinc finger protein 449	436	C2H2-type 5.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)	2	Acute lymphoblastic leukemia(192;6.56e-05)					AAAACCTCATAGATGTCATAA	0.353												
SPANXC	64663	broad.mit.edu	37	X	140336551	140336551	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chrX:140336551C>T	uc004fbk.2	-	1	96	c.40G>A	c.(40-42)GTC>ATC	p.V14I	SPANXC_uc004fbl.2_Intron	NM_022661	NP_073152	Q9NY87	SPNXC_HUMAN	sperm protein associated with the nucleus, X	14						cytoplasm|nucleus					0	Acute lymphoblastic leukemia(192;7.65e-05)					TCACAGGGGACGCTCCTCTTC	0.338												
MAGEA4	4103	broad.mit.edu	37	X	151092878	151092878	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chrX:151092878A>G	uc004fez.2	+	3	898	c.742A>G	c.(742-744)ACC>GCC	p.T248A	MAGEA4_uc004ffa.2_Missense_Mutation_p.T248A|MAGEA4_uc004ffb.2_Missense_Mutation_p.T248A|MAGEA4_uc004ffc.2_Missense_Mutation_p.T248A|MAGEA4_uc004ffd.2_Missense_Mutation_p.T248A	NM_002362	NP_002353	P43358	MAGA4_HUMAN	melanoma antigen family A, 4	248	MAGE.						protein binding			ovary(1)|breast(1)|central_nervous_system(1)	3	Acute lymphoblastic leukemia(192;6.56e-05)					GAAACTGCTCACCCAAGATTG	0.592												
PNMA3	29944	broad.mit.edu	37	X	152226568	152226568	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chrX:152226568C>T	uc004fhc.2	+	2	1492	c.1156C>T	c.(1156-1158)CGG>TGG	p.R386W	PNMA5_uc004fha.3_5'Flank|PNMA3_uc004fhd.2_5'Flank	NM_013364	NP_037496	Q9UL41	PNMA3_HUMAN	paraneoplastic cancer-testis-brain antigen	386	Arg-rich.				apoptosis	nucleolus	nucleic acid binding|zinc ion binding			skin(2)|large_intestine(1)	3	Acute lymphoblastic leukemia(192;6.56e-05)					CTACCGGCGCCGGAGGGGCAG	0.622												
ARHGAP4	393	broad.mit.edu	37	X	153175819	153175819	+	Silent	SNP	G	G	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chrX:153175819G>A	uc004fjk.1	-	17	2004	c.1962C>T	c.(1960-1962)TAC>TAT	p.Y654Y	ARHGAP4_uc004fjj.1_Silent_p.Y5Y|ARHGAP4_uc011mzf.1_Silent_p.Y631Y|ARHGAP4_uc004fjl.1_Silent_p.Y694Y|ARHGAP4_uc010nup.1_Intron	NM_001666	NP_001657	P98171	RHG04_HUMAN	Rho GTPase activating protein 4 isoform 2	654	Rho-GAP.				apoptosis|cytoskeleton organization|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|Rho protein signal transduction	cytosol|focal adhesion|nucleus	Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			central_nervous_system(1)	1	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CGGCCAGGTTGTAGGGGTCCA	0.682												
FLNA	2316	broad.mit.edu	37	X	153583313	153583313	+	Missense_Mutation	SNP	G	G	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chrX:153583313G>T	uc004fkk.2	-	31	5346	c.5097C>A	c.(5095-5097)GAC>GAA	p.D1699E	FLNA_uc004fki.2_5'Flank|FLNA_uc011mzn.1_5'UTR|FLNA_uc010nuu.1_Missense_Mutation_p.D1691E	NM_001110556	NP_001104026	P21333	FLNA_HUMAN	filamin A, alpha isoform 2	1699	Filamin 15.				actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TCTCCACCACGTCCACATCCA	0.597											OREG0003595	type=REGULATORY REGION|Gene=FLNA|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay
MPP1	4354	broad.mit.edu	37	X	154020457	154020457	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chrX:154020457A>G	uc004fmp.1	-	2	321	c.206T>C	c.(205-207)GTG>GCG	p.V69A	MPP1_uc010nvg.1_Missense_Mutation_p.V69A|MPP1_uc011mzv.1_Missense_Mutation_p.V39A|MPP1_uc004fmq.1_Missense_Mutation_p.V23A|MPP1_uc011mzw.1_Intron|MPP1_uc010nvh.1_Intron	NM_002436	NP_002427	Q00013	EM55_HUMAN	palmitoylated membrane protein 1	69					regulation of neutrophil chemotaxis|signal transduction	integral to plasma membrane|membrane fraction|stereocilium	guanylate kinase activity|protein binding			ovary(2)|central_nervous_system(1)	3	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					TATGAGTCGCACTTTCCGCAC	0.557												
TBCEL	219899	broad.mit.edu	37	11	120930796	120930797	+	Splice_Site	INS	-	-	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr11:120930796_120930797insA	uc009zay.2	+	7	1034	c.956_splice	c.e7+2	p.R319_splice	TBCEL_uc001pxo.2_Splice_Site_p.R319_splice|TBCEL_uc001pxp.2_Splice_Site_p.R175_splice|TBCEL_uc001pxq.2_Splice_Site	NM_001130047	NP_001123519	Q5QJ74	TBCEL_HUMAN	tubulin folding cofactor E-like							cytoplasm|cytoskeleton				skin(1)	1		Breast(109;0.00526)|Medulloblastoma(222;0.0523)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;5.89e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.121)		GCCATTCAGGTAAAAAATTCCC	0.391												
ABCC1	4363	broad.mit.edu	37	16	16165586	16165587	+	Splice_Site	INS	-	-	GT			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr16:16165586_16165587insGT	uc010bvi.2	+	14	2087	c.1912_splice	c.e14+1	p.G638_splice	ABCC1_uc010bvj.2_Splice_Site_p.G638_splice|ABCC1_uc010bvk.2_Splice_Site_p.G638_splice|ABCC1_uc010bvl.2_Splice_Site_p.G638_splice|ABCC1_uc010bvm.2_Splice_Site_p.G638_splice|ABCC1_uc002del.3_Splice_Site_p.G522_splice	NM_004996	NP_004987	P33527	MRP1_HUMAN	ATP-binding cassette, sub-family C, member 1						hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug	Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus	ATP binding|ATPase activity, coupled to transmembrane movement of substances			ovary(4)	4					Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)	TGTCAAAGACGGTGTGTGTGTG	0.569												
CASZ1	54897	broad.mit.edu	37	1	10719759	10719760	+	Splice_Site	INS	-	-	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr1:10719758_10719759C>CT	uc001aro.3	-	6	1660	c.1340_splice	c.e6+1	p.K447_splice	CASZ1_uc001arp.1_Splice_Site_p.K447_splice|CASZ1_uc009vmx.2_Splice_Site_p.K471_splice|CASZ1_uc001arq.1_Splice_Site_p.K306_splice	NM_001079843	NP_001073312	Q86V15	CASZ1_HUMAN	Homo sapiens castor zinc finger 1 (CASZ1), transcript variant 1, mRNA.	447					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		GAGCGCCTTACTTGACAGTGGA	0.604												
CACNA1S	779	broad.mit.edu	37	1	201035447	201035447	+	Splice_Site	DEL	G	G	-			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr1:201035446_201035446TG>T	uc001gvv.3	-	21	2885	c.2658_splice	c.e21-1	p.E886_splice		NM_000069	NP_000060	Q13698	CAC1S_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1S subunit (CACNA1S), mRNA.	886					axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	GCACTGGACCTGGGGGGCGGC	0.647												
ARID4B	51742	broad.mit.edu	37	1	235394506	235394507	+	Splice_Site	DEL	TA	TA	-			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr1:235394505_235394506CTA>C	uc021pks.1	-	10	1043	c.666_splice	c.e10-1	p.F222_splice	ARID4B_uc001hwq.3_Splice_Site_p.F222_splice|ARID4B_uc001hwr.3_Splice_Site_p.F222_splice|ARID4B_uc001hws.4_Splice_Site_p.F222_splice|ARID4B_uc001hwu.1_Splice_Site_p.F222_splice|ARID4B_uc001hwt.4_Splice_Site	NM_001206794	NP_001193723	Q4LE39	ARI4B_HUMAN	Homo sapiens AT rich interactive domain 4B (RBP1-like) (ARID4B), transcript variant 3, mRNA.	222					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding			NS(1)|breast(2)|large_intestine(2)|lung(1)|ovary(2)	8	Ovarian(103;0.0473)|Breast(184;0.23)	all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)			AACTGAAGTACtatatattttt	0.292												
SLC8A1	6546	broad.mit.edu	37	2	40401985	40401985	+	Splice_Site	DEL	A	A	-			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr2:40401984_40401984TA>T	uc002rrx.3	-	4	1961	c.1937_splice	c.e4-1	p.G646_splice	LOC100128590_uc002rrw.3_Intron|SLC8A1_uc002rry.3_Splice_Site_p.G646_splice|SLC8A1_uc002rsb.2_Splice_Site_p.G638_splice|SLC8A1_uc002rrz.3_Splice_Site_p.G638_splice|SLC8A1_uc002rsa.3_Splice_Site_p.G638_splice|SLC8A1_uc002rsd.4_Splice_Site_p.G638_splice	NM_021097	NP_066920	P32418	NAC1_HUMAN	Homo sapiens solute carrier family 8 (sodium/calcium exchanger), member 1 (SLC8A1), transcript variant A, mRNA.	646					cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding			NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	TGAAGCCACCTAAAAAAGAAA	0.333												
ACTR8	93973	broad.mit.edu	37	3	53910110	53910111	+	Splice_Site	INS	-	-	G			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr3:53910109_53910110T>TG	uc003dhd.3	-	7	880	c.779_splice	c.e7-1	p.G260_splice	ACTR8_uc003dhb.3_Splice_Site_p.G10_splice|ACTR8_uc003dhc.3_Splice_Site_p.G149_splice	NM_022899	NP_075050	Q9H981	ARP8_HUMAN	Homo sapiens ARP8 actin-related protein 8 homolog (yeast) (ACTR8), mRNA.	260					DNA recombination|DNA repair|cell division|mitosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ino80 complex	protein binding			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.000143)|KIRC - Kidney renal clear cell carcinoma(284;0.00544)|Kidney(284;0.00607)|OV - Ovarian serous cystadenocarcinoma(275;0.111)		CCACAATCCCTGGGGGGGGAAA	0.515												
ATG3	64422	broad.mit.edu	37	3	112277267	112277267	+	Splice_Site	DEL	A	A	-			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr3:112277266_112277266TA>T	uc003dzd.3	-	2	183	c.73_splice	c.e2-1	p.E25_splice	ATG3_uc003dzc.3_Splice_Site_p.E25_splice|ATG3_uc010hqe.3_Splice_Site_p.E25_splice	NM_022488	NP_071933	Q9NT62	ATG3_HUMAN	Homo sapiens ATG3 autophagy related 3 homolog (S. cerevisiae) (ATG3), mRNA.	25					autophagic vacuole assembly|mitochondrial fragmentation involved in apoptosis|protein targeting to membrane|protein ubiquitination	cytoplasmic ubiquitin ligase complex|cytosol	Atg12 ligase activity|Atg8 ligase activity|enzyme binding			breast(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(3)	9						CTTTGATTCCTAAAAAAAGCA	0.323												
STAG1	10274	broad.mit.edu	37	3	136240262	136240263	+	Splice_Site	INS	-	-	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr3:136240261_136240262T>TA	uc003era.1	-	7	764	c.472_splice	c.e7-1	p.D158_splice	STAG1_uc003erb.1_Splice_Site_p.D158_splice|STAG1_uc003erc.1_Splice_Site|STAG1_uc010hua.1_Splice_Site_p.D21_splice|STAG1_uc003ere.3_Splice_Site_p.D158_splice	NM_005862	NP_005853	Q8WVM7	STAG1_HUMAN	Homo sapiens stromal antigen 1 (STAG1), mRNA.	158					cell division|chromosome segregation|mitotic metaphase/anaphase transition|mitotic prometaphase	cell junction|chromatin|chromosome, centromeric region|nucleoplasm	protein binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						ACCACTGTCCTAAAAAACAGAA	0.361												
IGFBP7	3490	broad.mit.edu	37	4	57898593	57898593	+	Splice_Site	DEL	T	T	-			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr4:57898592_57898592CT>C	uc003hcn.3	-	4	863	c.829_splice	c.e4+1	p.G277_splice	IGFBP7_uc011cag.2_Frame_Shift_Del_p.G277fs	NM_001553	NP_001544	Q16270	IBP7_HUMAN	Homo sapiens insulin-like growth factor binding protein 7 (IGFBP7), transcript variant 1, mRNA.	277				PVKKGEGAEL -> ASEKR (in Ref. 1; AAA16187).	cell adhesion|negative regulation of cell proliferation|regulation of cell growth	extracellular space	insulin-like growth factor binding			central_nervous_system(1)|endometrium(1)|lung(3)	5	Glioma(25;0.08)|all_neural(26;0.181)				Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TATTGTGTACCTTTTTTCACT	0.358												
COL4A3BP	10087	broad.mit.edu	37	5	74696125	74696125	+	Splice_Site	DEL	A	A	-			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr5:74696124_74696124TA>T	uc011csu.2	-	10	1440	c.1018_splice	c.e10-1	p.S340_splice	COL4A3BP_uc003kds.3_Splice_Site_p.S340_splice|COL4A3BP_uc003kdt.3_Splice_Site_p.S468_splice|COL4A3BP_uc003kdu.2_Splice_Site_p.S340_splice	NM_005713	NP_005704	Q9Y5P4	C43BP_HUMAN	Homo sapiens collagen, type IV, alpha 3 (Goodpasture antigen) binding protein (COL4A3BP), transcript variant 1, mRNA.	340					ER to Golgi ceramide transport|immune response	Golgi apparatus|cytosol|endoplasmic reticulum membrane	ceramide binding|phosphatidylinositol-4-phosphate binding|protein binding|protein kinase activity			breast(1)|kidney(1)|large_intestine(5)|lung(4)|skin(3)|stomach(1)|urinary_tract(1)	16		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174)		OV - Ovarian serous cystadenocarcinoma(47;1e-53)		ACTCTGTGACTAAAAAAACAT	0.368												
GLRX	2745	broad.mit.edu	37	5	95152333	95152333	+	Splice_Site	DEL	A	A	-			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr5:95152332_95152332TA>T	uc021ybn.1	-	2	419	c.208_splice	c.e2-1	p.V70_splice	GLRX_uc003kln.4_Splice_Site_p.V70_splice|GLRX_uc003klo.4_Splice_Site_p.V70_splice|GLRX_uc021ybo.1_Splice_Site_p.V70_splice	NM_001243659	NP_001230588	P35754	GLRX1_HUMAN	Homo sapiens glutaredoxin (thioltransferase) (GLRX), transcript variant 4, mRNA.	70	Glutaredoxin.				cell redox homeostasis|electron transport chain|nucleobase, nucleoside and nucleotide interconversion|transport	cytosol	electron carrier activity|glutathione disulfide oxidoreductase activity|protein N-terminus binding|protein disulfide oxidoreductase activity			endometrium(3)|large_intestine(1)|lung(1)	5		all_cancers(142;3.38e-06)|all_epithelial(76;5.66e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0164)|Colorectal(57;0.0846)|Breast(839;0.198)		all cancers(79;2.62e-16)	Glutathione(DB00143)	TCGAGGCACCTAAAAAAGCAC	0.413												
SLCO6A1	133482	broad.mit.edu	37	5	101755728	101755728	+	Splice_Site	DEL	A	A	-			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr5:101755727_101755727TA>T	uc003knn.3	-	8	1449	c.1277_splice	c.e8-1	p.G426_splice	SLCO6A1_uc003kno.3_Intron|SLCO6A1_uc003knp.3_Splice_Site_p.G426_splice|SLCO6A1_uc003knq.3_Splice_Site_p.G364_splice	NM_173488	NP_775759	Q86UG4	SO6A1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 6A1 (SLCO6A1), mRNA.	426						integral to membrane|plasma membrane	transporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60		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)		AAACAAGTCCTAAAAAAAAGG	0.343												
MLL3	58508	broad.mit.edu	37	7	151836879	151836879	+	Splice_Site	DEL	A	A	-			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr7:151836878_151836878TA>T	uc003wla.3	-	56	14563	c.14344_splice	c.e56-1	p.G4782_splice	MLL3_uc003wkz.3_Splice_Site_p.G3896_splice|MLL3_uc003wkx.3_Splice_Site_p.G940_splice|MLL3_uc003wky.3_Splice_Site_p.G2342_splice	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 3 (MLL3), mRNA.	4782	SET.				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			NS(6)|biliary_tract(9)|breast(24)|central_nervous_system(18)|cervix(6)|endometrium(31)|haematopoietic_and_lymphoid_tissue(1)|kidney(26)|large_intestine(52)|liver(1)|lung(102)|ovary(10)|pancreas(17)|prostate(15)|skin(20)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(8)|urinary_tract(15)	365	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)		GCCCAGCCCCTAAAAAAAAGT	0.413			N		medulloblastoma							
C9orf80	58493	broad.mit.edu	37	9	115456516	115456516	+	Splice_Site	DEL	A	A	-			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr9:115456515_115456515TA>T	uc004bgg.3	-	3	203	c.26_splice	c.e3-1	p.G9_splice	C9orf80_uc010muk.3_Splice_Site	NM_021218	NP_067041	Q9NRY2	SOSSC_HUMAN	Homo sapiens chromosome 9 open reading frame 80 (C9orf80), mRNA.	9					DNA repair|response to ionizing radiation	SOSS complex	protein binding	p.?(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)	4						TTTGAAAACCTAAAAAAAAGA	0.348												
ZFP91	80829	broad.mit.edu	37	11	58377810	58377811	+	Splice_Site	INS	-	-	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr11:58377809_58377810T>TA	uc001nmx.4	+	4	785	c.617_splice	c.e4+2	p.S206_splice	ZFP91_uc001nmy.4_Splice_Site_p.S206_splice|CNTF_uc010rkm.2_Splice_Site	NM_053023	NP_444251	Q96JP5	ZFP91_HUMAN	Homo sapiens zinc finger protein 91 homolog (mouse) (ZFP91), transcript variant 1, mRNA.	206	Glu-rich.			Missing (in Ref. 4; AAH51743).	activation of NF-kappaB-inducing kinase activity|protein K63-linked ubiquitination	nucleus	nucleic acid binding|ubiquitin-protein ligase activity|zinc ion binding			cervix(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	26		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)				TGGCATTAGGTAAAAAAAACAT	0.312												
PGR	5241	broad.mit.edu	37	11	100962610	100962610	+	Splice_Site	DEL	A	A	-			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr11:100962609_100962609TA>T	uc001pgh.2	-	3	2533	c.1790_splice	c.e3-1	p.G597_splice	PGR_uc001pgi.2_Splice_Site_p.G597_splice|PGR_uc009yww.1_Splice_Site|PGR_uc001pgj.2_Splice_Site|PGR_uc009ywx.1_Intron	NM_000926	NP_000917	P06401	PRGR_HUMAN	Homo sapiens progesterone receptor (PGR), transcript variant 2, mRNA.	597					cell-cell signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	enzyme binding|receptor binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	36		Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014)		LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164)	Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Mifepristone(DB00834)|Norethindrone(DB00717)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)	TGTGCTGCCCTAAAAAAACAA	0.378												
TBCEL	219899	broad.mit.edu	37	11	120930797	120930798	+	Splice_Site	INS	-	-	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr11:120930796_120930797T>TA	uc001pxo.3	+	7	1161	c.956_splice	c.e7+2	p.R319_splice	TBCEL_uc009zay.3_Splice_Site_p.R319_splice|TBCEL_uc001pxp.3_Splice_Site_p.R175_splice|TBCEL_uc001pxq.3_Splice_Site	NM_152715	NP_689928	Q5QJ74	TBCEL_HUMAN	Homo sapiens tubulin folding cofactor E-like (TBCEL), transcript variant 1, mRNA.	319						cytoplasm|cytoskeleton			TECTA/TBCEL(2)	endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14		Breast(109;0.00526)|Medulloblastoma(222;0.0523)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;5.89e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.121)		GCCATTCAGGTAAAAAATTCCC	0.391												
MYO5C	55930	broad.mit.edu	37	15	52564923	52564923	+	Splice_Site	DEL	A	A	-			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr15:52564922_52564922TA>T	uc010bff.3	-	6	769	c.607_splice	c.e6-1	p.A203_splice	MYO5C_uc010uga.2_Splice_Site|MYO5C_uc010ugb.2_Splice_Site|MYO5C_uc010ugc.2_Splice_Site_p.A166_splice	NM_018728	NP_061198	Q9NQX4	MYO5C_HUMAN	Homo sapiens myosin VC (MYO5C), mRNA.	203	Myosin head-like.					myosin complex	ATP binding|actin binding|calmodulin binding|motor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66				all cancers(107;0.0137)		TCCAACGGCCTAAAAAAAATA	0.363												
ABCC1	4363	broad.mit.edu	37	16	16165587	16165588	+	Splice_Site	INS	-	-	GT			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr16:16165586_16165587G>GGT	uc010bvi.3	+	14	2087	c.1912_splice	c.e14+1	p.G638_splice	ABCC1_uc010bvj.3_Splice_Site_p.G638_splice|ABCC1_uc010bvk.3_Splice_Site_p.G638_splice|ABCC1_uc010bvl.3_Splice_Site_p.G638_splice|ABCC1_uc010bvm.3_Splice_Site_p.G638_splice|ABCC1_uc002del.4_Splice_Site_p.G522_splice|ABCC1_uc021tdq.1_Intron|ABCC1_uc021tdr.1_Splice_Site_p.G95_splice	NM_004996	NP_004987	P33527	MRP1_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 1 (ABCC1), transcript variant 1, mRNA.	638					hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug	Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3)	56					Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)	TGTCAAAGACGGTGTGTGTGTG	0.569												
SPAG7	9552	broad.mit.edu	37	17	4864151	4864151	+	Splice_Site	DEL	G	G	-			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr17:4864150_4864150TG>T	uc002gae.3	-	2	119	c.86_splice	c.e2-1	p.E29_splice	SPAG7_uc002gaf.3_Splice_Site_p.E29_splice	NM_004890	NP_004881	O75391	SPAG7_HUMAN	Homo sapiens sperm associated antigen 7 (SPAG7), mRNA.	29						nucleus	nucleic acid binding|protein binding			central_nervous_system(1)|endometrium(1)|kidney(2)|lung(3)|ovary(2)|urinary_tract(1)	10						CGGCCTGTTCTGGGGGTGAGA	0.512												
CACNB1	782	broad.mit.edu	37	17	37341120	37341120	+	Splice_Site	DEL	G	G	-			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr17:37341119_37341119TG>T	uc002hrm.2	-	8	857	c.649_splice	c.e8-1	p.T217_splice	CACNB1_uc002hrl.1_Splice_Site|CACNB1_uc002hrn.3_Splice_Site_p.T217_splice|CACNB1_uc002hro.3_Splice_Site_p.T262_splice|CACNB1_uc002hrp.2_Intron	NM_000723	NP_000714	Q02641	CACB1_HUMAN	Homo sapiens calcium channel, voltage-dependent, beta 1 subunit (CACNB1), transcript variant 1, mRNA.	217				T -> S (in Ref. 3; AAA36167).	axon guidance	voltage-gated calcium channel complex				breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	16					Ibutilide(DB00308)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Verapamil(DB00661)	ATGCTCTGTCTGGGGGGGGAA	0.627												
SERPINB8	5271	broad.mit.edu	37	18	61652328	61652328	+	Splice_Site	DEL	A	A	-			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr18:61652327_61652327GA>G	uc002ljv.3	+	6	737	c.568_splice	c.e6-1	p.E190_splice	SERPINB8_uc002ljt.3_Splice_Site_p.E190_splice|SERPINB8_uc002lju.3_Splice_Site_p.E190_splice|SERPINB8_uc010xex.2_Splice_Site_p.E8_splice	NM_198833	NP_942130	P50452	SPB8_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 8 (SERPINB8), transcript variant 2, mRNA.	190					regulation of proteolysis	cytosol	protein binding|serine-type endopeptidase inhibitor activity			breast(2)|kidney(1)|large_intestine(4)|lung(9)|skin(1)	17		Esophageal squamous(42;0.129)				TTTCCGTTAGGAAAAAAAGAC	0.373												
VWA1	64856	broad.mit.edu	37	1	1372689	1372689	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr1:1372689delC	uc001afs.2	+	2	676	c.456delC	c.(454-456)GGCfs	p.G152fs	VWA1_uc001afr.2_Intron	NM_022834	NP_073745	Q6PCB0	VWA1_HUMAN	von Willebrand factor A domain containing 1	152	VWFA.					basement membrane					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;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		ACCCTGTGGGCCCCCCCATGC	0.647												
RERE	473	broad.mit.edu	37	1	8420317	8420318	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr1:8420317_8420318insC	uc001ape.2	-	19	4059_4060	c.3249_3250insG	c.(3247-3252)GGGTCGfs	p.G1083fs	RERE_uc001apf.2_Frame_Shift_Ins_p.G1083fs|RERE_uc010nzx.1_Frame_Shift_Ins_p.G815fs|RERE_uc001apd.2_Frame_Shift_Ins_p.G529fs	NM_012102	NP_036234	Q9P2R6	RERE_HUMAN	atrophin-1 like protein isoform a	1083_1084	Pro-rich.				multicellular organismal development|NLS-bearing substrate import into nucleus	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		GGGCAGGACGACCCCCCCGCTA	0.718												
UBR4	23352	broad.mit.edu	37	1	19467923	19467923	+	Frame_Shift_Del	DEL	G	G	-	rs145307465		TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr1:19467923delG	uc001bbi.2	-	57	8410	c.8406delC	c.(8404-8406)CCCfs	p.P2802fs	UBR4_uc001bbk.1_Frame_Shift_Del_p.P484fs	NM_020765	NP_065816	Q5T4S7	UBR4_HUMAN	retinoblastoma-associated factor 600	2802					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			kidney(10)|ovary(7)|breast(4)|pancreas(2)|skin(2)	25		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		TGTCCAGCATGGGGGGGAAGC	0.587												
ARID1A	8289	broad.mit.edu	37	1	27023769	27023769	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr1:27023769delC	uc001bmv.1	+	1	1248	c.875delC	c.(874-876)ACCfs	p.T292fs	ARID1A_uc001bmt.1_Frame_Shift_Del_p.T292fs|ARID1A_uc001bmu.1_Frame_Shift_Del_p.T292fs	NM_006015	NP_006006	O14497	ARI1A_HUMAN	AT rich interactive domain 1A isoform a	292					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding			ovary(124)|pancreas(5)|central_nervous_system(3)|endometrium(3)|kidney(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	142		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		CCCACCGCCACCCCCACCCTC	0.761			Mis|N|F|S|D		clear cell ovarian carcinoma|RCC							
TRIT1	54802	broad.mit.edu	37	1	40312897	40312897	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr1:40312897delA	uc010oiz.1	-	8	1015	c.1001delT	c.(1000-1002)TTGfs	p.L334fs	TRIT1_uc001cec.3_RNA|TRIT1_uc001ced.3_Frame_Shift_Del_p.L30fs|TRIT1_uc001cee.3_RNA|TRIT1_uc001cef.3_RNA|TRIT1_uc001ceg.3_Frame_Shift_Del_p.L88fs|TRIT1_uc001ceh.3_Frame_Shift_Del_p.L88fs|TRIT1_uc009vvv.2_Intron|TRIT1_uc001cei.3_Frame_Shift_Del_p.L88fs|TRIT1_uc001ceq.2_Frame_Shift_Del_p.L30fs|TRIT1_uc001cek.2_Frame_Shift_Del_p.L30fs|TRIT1_uc009vvx.2_Intron|TRIT1_uc001cel.2_Intron|TRIT1_uc001cem.2_Frame_Shift_Del_p.L252fs|TRIT1_uc001cen.2_Frame_Shift_Del_p.L88fs|TRIT1_uc001ceo.2_Frame_Shift_Del_p.L88fs|TRIT1_uc001cep.2_Frame_Shift_Del_p.L88fs	NM_017646	NP_060116	Q9H3H1	MOD5_HUMAN	tRNA isopentenyltransferase 1 precursor	334					tRNA processing	mitochondrion	ATP binding|metal ion binding|tRNA dimethylallyltransferase activity			ovary(1)	1	all_cancers(7;4.55e-14)|all_lung(5;1.23e-16)|all_epithelial(6;2.17e-16)|Lung NSC(20;7.03e-07)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;3.29e-18)|Epithelial(16;3.07e-17)|all cancers(16;6.21e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			CTTACTGCTCAAAAAACGGTT	0.368												
CTSK	1513	broad.mit.edu	37	1	150778663	150778663	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr1:150778663delT	uc001evp.1	-	3	282	c.158delA	c.(157-159)AACfs	p.N53fs	CTSK_uc001evq.1_5'UTR|CTSK_uc009wma.1_RNA	NM_000396	NP_000387	P43235	CATK_HUMAN	cathepsin K preproprotein	53					proteolysis	lysosome	cysteine-type endopeptidase activity|protein binding			skin(1)	1	all_cancers(9;2.32e-51)|all_epithelial(9;3.89e-42)|all_lung(15;4.59e-35)|Lung NSC(24;1.7e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Colorectal(459;0.171)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0485)|BRCA - Breast invasive adenocarcinoma(12;0.00606)|LUSC - Lung squamous cell carcinoma(543;0.211)			ATACTTCAGGTTTTTTTCCCA	0.393												
ASH1L	55870	broad.mit.edu	37	1	155448019	155448019	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr1:155448019delT	uc009wqq.2	-	3	5122	c.4642delA	c.(4642-4644)AGCfs	p.S1548fs	ASH1L_uc001fkt.2_Frame_Shift_Del_p.S1548fs|ASH1L_uc009wqr.1_Frame_Shift_Del_p.S1548fs	NM_018489	NP_060959	Q9NR48	ASH1L_HUMAN	absent, small, or homeotic 1-like	1548					cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			skin(5)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	11	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			TTTATTAAGCTTTTTGAAGGA	0.458												
ADCY10	55811	broad.mit.edu	37	1	167865906	167865906	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr1:167865906delG	uc001ger.2	-	7	964	c.666delC	c.(664-666)CCCfs	p.P222fs	ADCY10_uc009wvk.2_Frame_Shift_Del_p.P130fs|ADCY10_uc010plj.1_Frame_Shift_Del_p.P69fs|ADCY10_uc009wvl.2_Frame_Shift_Del_p.P221fs|ADCY10_uc009wvm.2_RNA	NM_018417	NP_060887	Q96PN6	ADCYA_HUMAN	adenylate cyclase 10	222					intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	adenylate cyclase activity|ATP binding|magnesium ion binding			central_nervous_system(2)|ovary(1)	3						AATTAAAATTGGGGGGTGGTT	0.333												
BLZF1	8548	broad.mit.edu	37	1	169351458	169351458	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr1:169351458delA	uc001gfx.1	+	6	1393	c.956delA	c.(955-957)CAAfs	p.Q319fs	BLZF1_uc001gfy.2_Frame_Shift_Del_p.Q319fs|BLZF1_uc009wvp.1_Intron	NM_003666	NP_003657	Q9H2G9	GO45_HUMAN	basic leucine zipper nuclear factor 1	319					cell proliferation|Golgi organization|Golgi to plasma membrane protein transport|regulation of cell growth|regulation of transcription from RNA polymerase II promoter	Golgi lumen|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|ubiquitin protein ligase binding			skin(1)	1	all_hematologic(923;0.208)					ATTAACAATCAAAAAAAGATT	0.383												
CD55	1604	broad.mit.edu	37	1	207495788	207495788	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr1:207495788delT	uc001hfq.3	+	2	456	c.162delT	c.(160-162)AGTfs	p.S54fs	CD55_uc001hfp.3_Frame_Shift_Del_p.S54fs|CD55_uc001hfr.3_Frame_Shift_Del_p.S54fs|CD55_uc010psf.1_RNA|CD55_uc009xcf.2_Frame_Shift_Del_p.S54fs|CD55_uc009xce.2_Frame_Shift_Del_p.S54fs	NM_000574	NP_000565	P08174	DAF_HUMAN	decay accelerating factor for complement isoform	54	Sushi 1.				complement activation, classical pathway|elevation of cytosolic calcium ion concentration|innate immune response|respiratory burst	anchored to membrane|extracellular region|integral to plasma membrane|membrane raft|soluble fraction	receptor activity			ovary(1)	1					Chloramphenicol(DB00446)	GCCGTACAAGTTTTCCCGAGG	0.468												
PLXNA2	5362	broad.mit.edu	37	1	208391087	208391087	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr1:208391087delC	uc001hgz.2	-	2	939	c.181delG	c.(181-183)GCCfs	p.A61fs	PLXNA2_uc001hha.3_Frame_Shift_Del_p.A115fs	NM_025179	NP_079455	O75051	PLXA2_HUMAN	plexin A2 precursor	61	Extracellular (Potential).|Sema.				axon guidance	integral to membrane|intracellular|plasma membrane				ovary(2)|central_nervous_system(1)	3				OV - Ovarian serous cystadenocarcinoma(81;0.199)		ACATAGACGGCCCCCGTCCCT	0.592												
LAMB3	3914	broad.mit.edu	37	1	209803202	209803202	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr1:209803202delC	uc001hhg.2	-	9	1402	c.1012delG	c.(1012-1014)GCAfs	p.A338fs	LAMB3_uc009xco.2_Frame_Shift_Del_p.A338fs|LAMB3_uc001hhh.2_Frame_Shift_Del_p.A338fs|LAMB3_uc010psl.1_RNA	NM_001017402	NP_001017402	Q13751	LAMB3_HUMAN	laminin, beta 3 precursor	338	Laminin EGF-like 2.				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)		CCTCCATATGCCCCCTGGCTG	0.567												
GPATCH2	55105	broad.mit.edu	37	1	217793264	217793264	+	Frame_Shift_Del	DEL	T	T	-	rs71763020		TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr1:217793264delT	uc001hlf.1	-	2	730	c.634delA	c.(634-636)AGAfs	p.R212fs	GPATCH2_uc001hlg.3_Frame_Shift_Del_p.R212fs	NM_018040	NP_060510	Q9NW75	GPTC2_HUMAN	G patch domain containing 2	212						intracellular	nucleic acid binding			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(81;0.0397)|all cancers(67;0.0744)|GBM - Glioblastoma multiforme(131;0.0872)		TTCAACTTTCTTTTTTTGACT	0.398												
ZNF124	7678	broad.mit.edu	37	1	247319909	247319909	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr1:247319909delT	uc001ick.2	-	4	1154	c.1015delA	c.(1015-1017)ACTfs	p.T339fs	ZNF124_uc001ici.2_Intron|ZNF124_uc001icj.1_Frame_Shift_Del_p.T277fs	NM_003431	NP_003422	Q15973	ZN124_HUMAN	zinc finger protein 124	339	C2H2-type 8.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)	1	all_cancers(71;5.07e-05)|all_epithelial(71;8.72e-06)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0488)|Lung NSC(105;0.053)		OV - Ovarian serous cystadenocarcinoma(106;0.00739)			CCAGTATGAGTTTTTTTATGC	0.368												
DCLRE1C	64421	broad.mit.edu	37	10	14950433	14950433	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr10:14950433delT	uc001inn.2	-	14	2138	c.2053delA	c.(2053-2055)AGAfs	p.R685fs	DCLRE1C_uc010qbx.1_Intron|DCLRE1C_uc001ink.2_Frame_Shift_Del_p.R338fs|DCLRE1C_uc001inl.2_Frame_Shift_Del_p.R565fs|DCLRE1C_uc009xji.2_Frame_Shift_Del_p.R570fs|DCLRE1C_uc001inm.2_Frame_Shift_Del_p.R565fs|DCLRE1C_uc001ino.2_Frame_Shift_Del_p.R570fs|DCLRE1C_uc009xjh.2_RNA|DCLRE1C_uc001inp.2_Frame_Shift_Del_p.R565fs|DCLRE1C_uc001inq.2_Frame_Shift_Del_p.R565fs|DCLRE1C_uc001inr.2_Frame_Shift_Del_p.R570fs	NM_001033855	NP_001029027	Q96SD1	DCR1C_HUMAN	artemis protein isoform a	685					DNA recombination	nucleus	5'-3' exonuclease activity|single-stranded DNA specific endodeoxyribonuclease activity			ovary(1)	1						GAGCATTTTCTTTTTTTGACT	0.269								Involved_in_tolerance_or_repair_of_DNA_crosslinks|NHEJ				
MYO3A	53904	broad.mit.edu	37	10	26457756	26457756	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr10:26457756delA	uc001isn.2	+	28	3587	c.3227delA	c.(3226-3228)CAAfs	p.Q1076fs	MYO3A_uc009xkp.1_RNA|MYO3A_uc009xkq.1_Intron	NM_017433	NP_059129	Q8NEV4	MYO3A_HUMAN	myosin IIIA	1076	IQ 1.				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			ovary(6)|stomach(3)|lung(3)|central_nervous_system(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	18						AGAAGATACCAAAAAATACAG	0.323												
AGAP7	653268	broad.mit.edu	37	10	51465538	51465538	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr10:51465538delT	uc001jio.2	-	7	1044	c.918delA	c.(916-918)AAAfs	p.K306fs	PARG_uc001jih.2_Intron|uc010qha.1_Intron|uc001jin.2_Intron|uc010qhb.1_Intron|uc010qhc.1_Intron	NM_001077685	NP_001071153	Q5VUJ5	AGAP7_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH	306	PH.				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding				0						GGTCAATCTCTTTTTTATGAA	0.443												
MYPN	84665	broad.mit.edu	37	10	69926167	69926167	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr10:69926167delC	uc001jnm.3	+	11	1902	c.1717delC	c.(1717-1719)CCCfs	p.P573fs	MYPN_uc001jnl.1_Frame_Shift_Del_p.P573fs|MYPN_uc001jnn.3_Frame_Shift_Del_p.P298fs|MYPN_uc001jno.3_Frame_Shift_Del_p.P573fs|MYPN_uc009xps.2_Frame_Shift_Del_p.P573fs|MYPN_uc009xpt.2_Frame_Shift_Del_p.P573fs|MYPN_uc010qit.1_Frame_Shift_Del_p.P279fs|MYPN_uc010qiu.1_RNA	NM_032578	NP_115967	Q86TC9	MYPN_HUMAN	myopalladin	573						nucleus|sarcomere	actin binding			ovary(3)|skin(2)	5						TGTGGAACAACCCCCCAAACC	0.577												
NDST2	8509	broad.mit.edu	37	10	75567574	75567575	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr10:75567574_75567575insA	uc001jvk.2	-	3	1376_1377	c.572_573insT	c.(571-573)TTAfs	p.L191fs	NDST2_uc010qks.1_5'Flank|NDST2_uc010qkt.1_Frame_Shift_Ins_p.L68fs|NDST2_uc009xro.2_5'Flank|NDST2_uc010qku.1_Frame_Shift_Ins_p.L68fs	NM_003635	NP_003626	P52849	NDST2_HUMAN	heparan glucosaminyl	191	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)					AGTTTGAGTGTAAAAAAAGGGG	0.589												
TLX1	3195	broad.mit.edu	37	10	102893955	102893955	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr10:102893955delC	uc001ksw.2	+	2	830	c.592delC	c.(592-594)CCCfs	p.P198fs		NM_005521	NP_005512	P31314	TLX1_HUMAN	T-cell leukemia homeobox 1	198						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)	1				Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)		GAACCGGACGCCCCCCAAGAA	0.627			T	TRB@|TRD@	T-ALL							
ADRA2A	150	broad.mit.edu	37	10	112839027	112839029	+	In_Frame_Del	DEL	TTC	TTC	-			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr10:112839027_112839029delTTC	uc001kzo.2	+	1	2238_2240	c.1273_1275delTTC	c.(1273-1275)TTCdel	p.F427del		NM_000681	NP_000672	P08913	ADA2A_HUMAN	alpha-2A-adrenergic receptor	412	Helical; Name=7; (By similarity).			F->N: 350-fold reduced affinity for alpha-2 antagonist yohimbine, 3000-fold increase for beta-antagonist alprenolol.	actin cytoskeleton organization|activation of MAPK activity by adrenergic receptor signaling pathway|activation of phospholipase C activity by adrenergic receptor signaling pathway|activation of protein kinase B activity|blood coagulation|cellular component movement|cellular response to hormone stimulus|energy reserve metabolic process|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|glucose homeostasis|inhibition of adenylate cyclase activity by adrenergic receptor signaling pathway|intestinal absorption|negative regulation of adrenergic receptor signaling pathway|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of cAMP biosynthetic process|negative regulation of epinephrine secretion|negative regulation of insulin secretion involved in cellular response to glucose stimulus|negative regulation of lipid catabolic process|negative regulation of norepinephrine secretion|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of cytokine production|positive regulation of membrane protein ectodomain proteolysis|positive regulation of potassium ion transport|positive regulation of wound healing|Rho protein signal transduction	basolateral plasma membrane|cytoplasm|integral to plasma membrane|receptor complex	alpha-1B adrenergic receptor binding|alpha-2C adrenergic receptor binding|alpha2-adrenergic receptor activity|epinephrine binding|heterotrimeric G-protein binding|norepinephrine binding|protein heterodimerization activity|protein homodimerization activity|protein kinase binding|thioesterase binding				0		Breast(234;0.0735)|Lung NSC(174;0.238)		Epithelial(162;0.000316)|all cancers(201;0.00501)|BRCA - Breast invasive adenocarcinoma(275;0.118)	Amitriptyline(DB00321)|Amphetamine(DB00182)|Apraclonidine(DB00964)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Brimonidine(DB00484)|Clonidine(DB00575)|Debrisoquin(DB04840)|Dexmedetomidine(DB00633)|Dipivefrin(DB00449)|Epinastine(DB00751)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Guanabenz(DB00629)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Guanfacine(DB01018)|Lofexidine(DB04948)|Methyldopa(DB00968)|Mianserin(DB06148)|Mirtazapine(DB00370)|Norepinephrine(DB00368)|Oxymetazoline(DB00935)|Phentolamine(DB00692)|Phenylpropanolamine(DB00397)|Pseudoephedrine(DB00852)|Tizanidine(DB00697)|Trazodone(DB00656)|Yohimbine(DB01392)	GCTCTTCAAATTCTTCTTCTGGT	0.576												
TACC2	10579	broad.mit.edu	37	10	123842738	123842738	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr10:123842738delG	uc001lfv.2	+	4	1083	c.723delG	c.(721-723)CAGfs	p.Q241fs	TACC2_uc001lfw.2_Intron|TACC2_uc009xzx.2_Frame_Shift_Del_p.Q241fs|TACC2_uc010qtv.1_Frame_Shift_Del_p.Q241fs	NM_206862	NP_996744	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing	241						microtubule organizing center|nucleus	nuclear hormone receptor binding			ovary(4)|breast(3)|skin(2)|central_nervous_system(1)	10		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				AGTCCAGGCAGGGGGTGGCTT	0.617												
DOCK1	1793	broad.mit.edu	37	10	129237392	129237392	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr10:129237392delA	uc001ljt.2	+	49	5163	c.5099delA	c.(5098-5100)GAAfs	p.E1700fs	DOCK1_uc010qun.1_Frame_Shift_Del_p.E1721fs|DOCK1_uc009yaq.2_Frame_Shift_Del_p.E695fs	NM_001380	NP_001371	Q14185	DOCK1_HUMAN	dedicator of cytokinesis 1	1700					apoptosis|axon guidance|blood coagulation|integrin-mediated signaling pathway|phagocytosis, engulfment|small GTPase mediated signal transduction	cytosol|membrane	GTP binding|GTPase activator activity|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding			central_nervous_system(4)|ovary(2)|lung(1)|breast(1)|kidney(1)	9		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)		aagaagaaggaaaaaaggaaC	0.393												
PAX6	5080	broad.mit.edu	37	11	31812317	31812317	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr11:31812317delG	uc001mtd.3	-	11	2014	c.1124delC	c.(1123-1125)CCAfs	p.P375fs	PAX6_uc001mte.3_Frame_Shift_Del_p.P375fs|PAX6_uc001mtg.3_Frame_Shift_Del_p.P389fs|PAX6_uc001mtf.3_Frame_Shift_Del_p.P375fs|PAX6_uc001mth.3_Frame_Shift_Del_p.P375fs|PAX6_uc009yjr.2_Frame_Shift_Del_p.P375fs	NM_001127612	NP_001121084	P26367	PAX6_HUMAN	paired box gene 6 isoform a	375	Pro/Ser/Thr-rich.		P -> Q (in AN; reduced DNA binding ability).		blood vessel development|central nervous system development|cornea development in camera-type eye|glucose homeostasis|iris morphogenesis|negative regulation of neurogenesis|neuron fate commitment|pancreatic A cell development|positive regulation of transcription, DNA-dependent|response to wounding|visual perception	cytoplasm|nuclear chromatin	R-SMAD binding|RNA polymerase II core promoter sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity|ubiquitin-protein ligase activity			lung(4)|ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	9	Lung SC(675;0.225)					CTGCATATGTGGGGGGGTGTA	0.587									Wilms_tumor-Aniridia-ambiguous_Genitals-mental_Retardation			
OR5M3	219482	broad.mit.edu	37	11	56237709	56237709	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr11:56237709delT	uc010rjk.1	-	1	265	c.265delA	c.(265-267)ACAfs	p.T89fs		NM_001004742	NP_001004742	Q8NGP4	OR5M3_HUMAN	olfactory receptor, family 5, subfamily M,	89	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2	Esophageal squamous(21;0.00448)					TAAGTAATTGTTTTTTTATCT	0.363												
SMTNL1	219537	broad.mit.edu	37	11	57310315	57310316	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr11:57310315_57310316insG	uc009ymh.1	+	2	254_255	c.254_255insG	c.(253-255)CAGfs	p.Q85fs		NM_001105565	NP_001099035	E9PPJ3	E9PPJ3_HUMAN	smoothelin-like 1	67										ovary(1)	1						GCAGAACTCCAGGGGGAAGCAA	0.535												
OR5B3	441608	broad.mit.edu	37	11	58170465	58170466	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr11:58170465_58170466delCA	uc010rkf.1	-	1	417_418	c.417_418delTG	c.(415-420)TGTGCTfs	p.C139fs		NM_001005469	NP_001005469	Q8NH48	OR5B3_HUMAN	olfactory receptor, family 5, subfamily B,	139_140	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				GCCAGACGAGCACACACAGTTG	0.495												
GPR137	56834	broad.mit.edu	37	11	64055217	64055217	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr11:64055217delG	uc001nzg.1	+	4	740	c.432delG	c.(430-432)GTGfs	p.V144fs	GPR137_uc009ypj.1_Frame_Shift_Del_p.V150fs|GPR137_uc010rni.1_Frame_Shift_Del_p.V202fs|GPR137_uc001nze.1_Frame_Shift_Del_p.V144fs|GPR137_uc001nzf.2_Frame_Shift_Del_p.V144fs|GPR137_uc001nzh.1_Frame_Shift_Del_p.V144fs|GPR137_uc001nzi.2_Frame_Shift_Del_p.V144fs|GPR137_uc010rnj.1_Frame_Shift_Del_p.V144fs	NM_020155	NP_064540	Q96N19	G137A_HUMAN	G protein-coupled receptor 137	144	Helical; (Potential).					integral to membrane				central_nervous_system(1)	1						GGGCCTTTGTGGGGGCCTCGC	0.677												
NADSYN1	55191	broad.mit.edu	37	11	71192975	71192975	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr11:71192975delT	uc001oqn.2	+	13	1180	c.1054delT	c.(1054-1056)TTTfs	p.F352fs	NADSYN1_uc001oqo.2_Frame_Shift_Del_p.F92fs|NADSYN1_uc001oqp.2_5'UTR	NM_018161	NP_060631	Q6IA69	NADE_HUMAN	NAD synthetase 1	352	Ligase (By similarity).				NAD biosynthetic process|water-soluble vitamin metabolic process	cytosol	ATP binding|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds|NAD+ synthase (glutamine-hydrolyzing) activity|protein binding			ovary(2)	2					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	CCAGGCAGGGTTTTTGCTGCC	0.612												
RSF1	51773	broad.mit.edu	37	11	77413116	77413116	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr11:77413116delT	uc001oyn.2	-	6	1278	c.1158delA	c.(1156-1158)AAAfs	p.K386fs	RSF1_uc001oym.2_Frame_Shift_Del_p.K134fs	NM_016578	NP_057662	Q96T23	RSF1_HUMAN	remodeling and spacing factor 1	386					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)			TAATTTCTCGTTTTTTTAGTG	0.338												
DDX6	1656	broad.mit.edu	37	11	118629513	118629513	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr11:118629513delT	uc001pub.2	-	9	1324	c.963delA	c.(961-963)AAAfs	p.K321fs	DDX6_uc001pua.2_Frame_Shift_Del_p.K21fs|DDX6_uc001puc.2_Frame_Shift_Del_p.K321fs	NM_004397	NP_004388	P26196	DDX6_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 6	321	Helicase C-terminal.				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol|RNA-induced silencing complex|stress granule	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding|RNA helicase activity			ovary(1)	1	all_hematologic(175;0.0839)	Renal(330;0.0183)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)|Hepatocellular(160;0.0893)|Breast(348;0.0979)|all_hematologic(192;0.103)		OV - Ovarian serous cystadenocarcinoma(223;3.39e-06)|BRCA - Breast invasive adenocarcinoma(274;3.4e-05)|Colorectal(284;0.0377)		GGCAGTGTACTTTTTGGCGCT	0.413			T	IGH@	B-NHL							
TBCEL	219899	broad.mit.edu	37	11	120930796	120930797	+	Splice_Site	INS	-	-	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr11:120930796_120930797insA	uc009zay.2	+	7	1034	c.956_splice	c.e7+2	p.R319_splice	TBCEL_uc001pxo.2_Splice_Site_p.R319_splice|TBCEL_uc001pxp.2_Splice_Site_p.R175_splice|TBCEL_uc001pxq.2_Splice_Site	NM_001130047	NP_001123519	Q5QJ74	TBCEL_HUMAN	tubulin folding cofactor E-like							cytoplasm|cytoskeleton				skin(1)	1		Breast(109;0.00526)|Medulloblastoma(222;0.0523)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;5.89e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.121)		GCCATTCAGGTAAAAAATTCCC	0.391												
C1R	715	broad.mit.edu	37	12	7187997	7187997	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr12:7187997delC	uc010sfy.1	-	10	2016	c.1957delG	c.(1957-1959)GATfs	p.D653fs		NM_001733	NP_001724	P00736	C1R_HUMAN	complement component 1, r subcomponent	653	Peptidase S1.				complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity				0					Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	CCCCCACTATCCCCCTGGCAG	0.577												
C1R	715	broad.mit.edu	37	12	7242010	7242010	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr12:7242010delG	uc010sfy.1	-	5	706	c.647delC	c.(646-648)CCTfs	p.P216fs	C1R_uc010sfz.1_Frame_Shift_Del_p.P230fs|C1R_uc010sga.1_Frame_Shift_Del_p.P182fs	NM_001733	NP_001724	P00736	C1R_HUMAN	complement component 1, r subcomponent	216	CUB 2.				complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity				0					Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	GCGCAGGTCAGGGGGGTAGGA	0.597												
ATF7IP	55729	broad.mit.edu	37	12	14577801	14577802	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr12:14577801_14577802insA	uc001rbw.2	+	2	1110_1111	c.952_953insA	c.(952-954)GAAfs	p.E318fs	ATF7IP_uc010shs.1_Frame_Shift_Ins_p.E318fs|ATF7IP_uc001rbu.2_Frame_Shift_Ins_p.E318fs|ATF7IP_uc001rbv.1_Frame_Shift_Ins_p.E318fs|ATF7IP_uc001rbx.2_Frame_Shift_Ins_p.E318fs|ATF7IP_uc010sht.1_Frame_Shift_Ins_p.E318fs|ATF7IP_uc001rby.3_Frame_Shift_Ins_p.E318fs|ATF7IP_uc001rbz.1_Frame_Shift_Ins_p.E318fs|ATF7IP_uc001rca.2_Frame_Shift_Ins_p.E318fs|ATF7IP_uc001rcb.2_5'Flank	NM_018179	NP_060649	Q6VMQ6	MCAF1_HUMAN	activating transcription factor 7 interacting	318					DNA methylation|interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|regulation of RNA polymerase II transcriptional preinitiation complex assembly|transcription, DNA-dependent		protein binding			lung(3)|ovary(1)|skin(1)	5						TGATTTTCTTGAAAAAAATGGA	0.317												
ART4	420	broad.mit.edu	37	12	14993875	14993876	+	Frame_Shift_Del	DEL	GT	GT	-	rs144350521	by1000genomes	TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr12:14993875_14993876delGT	uc001rcl.1	-	2	722_723	c.356_357delAC	c.(355-357)CACfs	p.H119fs	ART4_uc009zid.1_Intron|ART4_uc009zie.1_Intron|ART4_uc001rcm.1_Frame_Shift_Del_p.H119fs	NM_021071	NP_066549	Q93070	NAR4_HUMAN	ADP-ribosyltransferase 4 precursor	119					arginine metabolic process|protein ADP-ribosylation	anchored to membrane|plasma membrane	NAD(P)+-protein-arginine ADP-ribosyltransferase activity				0						TAGCCACAGCGTGTGTGGTAGT	0.436												
MLL2	8085	broad.mit.edu	37	12	49443667	49443667	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr12:49443667delC	uc001rta.3	-	11	3704	c.3704delG	c.(3703-3705)GGTfs	p.G1235fs		NM_003482	NP_003473	O14686	MLL2_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 2	1235					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						CAGGGAGCCACCCCCCTCCGG	0.592			N|F|Mis		medulloblastoma|renal					HNSCC(34;0.089)		
MLL2	8085	broad.mit.edu	37	12	49448408	49448408	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr12:49448408delC	uc001rta.3	-	3	303	c.303delG	c.(301-303)GGGfs	p.G101fs		NM_003482	NP_003473	O14686	MLL2_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 2	101					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						GCCCTGGGCTCCCCCCAGGGG	0.622			N|F|Mis		medulloblastoma|renal					HNSCC(34;0.089)		
SRGAP1	57522	broad.mit.edu	37	12	64377821	64377821	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr12:64377821delA	uc010ssp.1	+	2	218	c.162delA	c.(160-162)CGAfs	p.R54fs	SRGAP1_uc001srt.2_Frame_Shift_Del_p.R54fs|SRGAP1_uc001srv.2_Frame_Shift_Del_p.R14fs	NM_020762	NP_065813	Q7Z6B7	SRGP1_HUMAN	SLIT-ROBO Rho GTPase activating protein 1	54	FCH.				axon guidance	cytosol				ovary(2)|central_nervous_system(2)	4			GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)		ATTTCTTCCGAAAAAAAGCTG	0.418												
HMGA2	8091	broad.mit.edu	37	12	66221835	66221835	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr12:66221835delA	uc001ssx.2	+	2	977	c.166delA	c.(166-168)AAAfs	p.K56fs	RPSAP52_uc001sso.2_5'Flank|HMGA2_uc001ssw.1_Frame_Shift_Del_p.K56fs|HMGA2_uc001ssp.1_RNA|HMGA2_uc010ssv.1_RNA|HMGA2_uc001sss.1_RNA|HMGA2_uc001sst.1_Frame_Shift_Del_p.K56fs|HMGA2_uc001ssu.1_Frame_Shift_Del_p.K56fs|HMGA2_uc001ssv.2_Frame_Shift_Del_p.K56fs	NM_003483	NP_003474	P52926	HMGA2_HUMAN	high mobility group AT-hook 2 isoform a	56	Interaction with E4F1.				cell division|chromatin organization|mitosis|multicellular organismal development|regulation of growth|transcription, DNA-dependent	chromatin	AT DNA binding		HMGA2/LPP(161)|HMGA2/WIF1_ENST00000286574(14)|HMGA2/RAD51B(11)|HMGA2/NFIB_ENST00000397581(8)|HMGA2/FHIT_ENST00000476844(4)|HMGA2/CCNB1IP1(2)|HMGA2/ALDH2_ENST00000261733(2)|HMGA2/EBF1(2)|HMGA2/LHFP(2)|HMGA2/COX6C(2)	soft_tissue(159)|bone(27)|salivary_gland(22)	208	all_cancers(1;5.78e-46)		GBM - Glioblastoma multiforme(1;0.00179)|LUSC - Lung squamous cell carcinoma(43;0.156)	GBM - Glioblastoma multiforme(28;0.0386)		CAAAGGCAGCAAAAACAAGAG	0.463			T	LHFP|RAD51L1|LPP|HEI10|COX6C|CMKOR1|NFIB|ALDH2|CCNB1IP1|EBF1|WIF1|FHIT	lipoma|leiomyoma|pleiomorphic salivary gland adenoma							
BBS10	79738	broad.mit.edu	37	12	76740960	76740960	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr12:76740960delA	uc001syd.1	-	2	889	c.805delT	c.(805-807)TCCfs	p.S269fs		NM_024685	NP_078961	Q8TAM1	BBS10_HUMAN	Bardet-Biedl syndrome 10	269					cellular protein metabolic process|nonmotile primary cilium assembly|photoreceptor cell maintenance|response to stimulus|retina homeostasis	cilium	ATP binding			ovary(1)|skin(1)	2						CCAGAAGTGGAAAAAAGAGGC	0.383									Bardet-Biedl_syndrome			
LRRIQ1	84125	broad.mit.edu	37	12	85449618	85449618	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr12:85449618delA	uc001tac.2	+	8	1158	c.1047delA	c.(1045-1047)AGAfs	p.R349fs	LRRIQ1_uc001tab.1_Frame_Shift_Del_p.R349fs|LRRIQ1_uc001taa.1_Frame_Shift_Del_p.R324fs	NM_001079910	NP_001073379	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	349	Glu-rich.									ovary(4)|central_nervous_system(1)|skin(1)	6				GBM - Glioblastoma multiforme(134;0.212)		aagaagagagaaaaaagcaaa	0.070												
MVK	4598	broad.mit.edu	37	12	110019240	110019240	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr12:110019240delC	uc001toy.3	+	5	596	c.412delC	c.(412-414)CCCfs	p.P138fs	MVK_uc009zvk.2_Frame_Shift_Del_p.P138fs|MVK_uc010sxr.1_Intron|MVK_uc001toz.3_Intron|MVK_uc001tpc.3_RNA	NM_001114185	NP_001107657	Q03426	KIME_HUMAN	mevalonate kinase	138	ATP (By similarity).				cholesterol biosynthetic process|isoprenoid biosynthetic process	cytosol|peroxisome	ATP binding|identical protein binding|mevalonate kinase activity				0						GTCGGAGCTGCCCCCCGGGGC	0.667												
WSB2	55884	broad.mit.edu	37	12	118481123	118481123	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr12:118481123delC	uc001twr.2	-	3	340	c.242delG	c.(241-243)GGCfs	p.G81fs	WSB2_uc010sza.1_5'UTR|WSB2_uc010szb.1_Intron|WSB2_uc009zws.1_Frame_Shift_Del_p.G81fs	NM_018639	NP_061109	Q9NYS7	WSB2_HUMAN	WD SOCS-box protein 2	81					intracellular signal transduction					ovary(1)	1	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TTTTGGGCTGCCCCGCCCTTT	0.542												
PARP4	143	broad.mit.edu	37	13	25030500	25030500	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr13:25030500delT	uc001upl.2	-	21	2647	c.2541delA	c.(2539-2541)AAAfs	p.K847fs	PARP4_uc010tdc.1_Frame_Shift_Del_p.K847fs	NM_006437	NP_006428	Q9UKK3	PARP4_HUMAN	poly (ADP-ribose) polymerase family, member 4	847					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)		TTTCTGGATGTTTTTCAACCC	0.398												
WASF3	10810	broad.mit.edu	37	13	27246073	27246074	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr13:27246073_27246074insA	uc001uqv.2	+	6	712_713	c.487_488insA	c.(487-489)GAAfs	p.E163fs	WASF3_uc001uqw.2_Frame_Shift_Ins_p.E163fs	NM_006646	NP_006637	Q9UPY6	WASF3_HUMAN	WAS protein family, member 3	163	Potential.				actin filament polymerization	cytoplasm|cytoskeleton	actin binding			pancreas(1)	1	Colorectal(5;0.000247)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.0114)|Epithelial(112;0.046)|OV - Ovarian serous cystadenocarcinoma(117;0.0547)|Lung(94;0.105)|LUSC - Lung squamous cell carcinoma(192;0.155)		CCTCTGGAAAGAAAAAATGCTA	0.371												
FLT3	2322	broad.mit.edu	37	13	28601359	28601359	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr13:28601359delA	uc001urw.2	-	17	2155	c.2073delT	c.(2071-2073)TTTfs	p.F691fs	FLT3_uc010aao.2_RNA|FLT3_uc010tdn.1_Frame_Shift_Del_p.F691fs	NM_004119	NP_004110	P36888	FLT3_HUMAN	fms-related tyrosine kinase 3 precursor	691	Protein kinase.|Cytoplasmic (Potential).				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|vascular endothelial growth factor receptor activity			haematopoietic_and_lymphoid_tissue(8536)|lung(7)|ovary(3)|stomach(1)|central_nervous_system(1)|skin(1)	8549	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Sorafenib(DB00398)|Sunitinib(DB01268)	AACAGTATTCAAAAATCAAGT	0.328			Mis|O		AML|ALL							
ZC3H13	23091	broad.mit.edu	37	13	46577338	46577338	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr13:46577338delT	uc010tfw.1	-	7	886	c.880delA	c.(880-882)ACAfs	p.T294fs	ZC3H13_uc001vas.1_Frame_Shift_Del_p.T294fs|ZC3H13_uc001vat.1_Frame_Shift_Del_p.T294fs	NM_015070	NP_055885	Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	294							nucleic acid binding|zinc ion binding			ovary(1)|lung(1)	2		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|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;4.18e-05)		CCATCTCTTGTTTTTTCTTCT	0.368												
MYCBP2	23077	broad.mit.edu	37	13	77765900	77765900	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr13:77765900delC	uc001vkf.2	-	29	3961	c.3870delG	c.(3868-3870)GGGfs	p.G1290fs	MYCBP2_uc010aev.2_Frame_Shift_Del_p.G694fs	NM_015057	NP_055872	O75592	MYCB2_HUMAN	MYC binding protein 2	1290					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			ovary(4)|breast(4)|skin(3)|lung(2)|pancreas(1)	14		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		CATACCACCACCCAGCTTGCA	0.443												
NYNRIN	57523	broad.mit.edu	37	14	24877215	24877215	+	Frame_Shift_Del	DEL	C	C	-	rs10148781	by1000genomes	TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr14:24877215delC	uc001wpf.3	+	3	657	c.339delC	c.(337-339)GGCfs	p.G113fs		NM_025081	NP_079357	Q9P2P1	NYNRI_HUMAN	hypothetical protein LOC57523	113					DNA integration	integral to membrane	DNA binding			ovary(2)|central_nervous_system(1)	3						TGGTGCCTGGCCCCCCTGGCT	0.657												
ARHGAP5	394	broad.mit.edu	37	14	32562545	32562545	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr14:32562545delT	uc001wrl.2	+	2	2909	c.2670delT	c.(2668-2670)GATfs	p.D890fs	ARHGAP5_uc001wrm.2_Frame_Shift_Del_p.D890fs|ARHGAP5_uc001wrn.2_Frame_Shift_Del_p.D890fs|ARHGAP5_uc001wro.2_Intron|ARHGAP5_uc001wrp.2_Intron	NM_001173	NP_001025226	Q13017	RHG05_HUMAN	Rho GTPase activating protein 5 isoform b	890					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)		GCCAAGCAGATTTTTTTGAAA	0.403												
ARHGAP5	394	broad.mit.edu	37	14	32562675	32562675	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr14:32562675delT	uc001wrl.2	+	2	3039	c.2800delT	c.(2800-2802)TTTfs	p.F934fs	ARHGAP5_uc001wrm.2_Frame_Shift_Del_p.F934fs|ARHGAP5_uc001wrn.2_Frame_Shift_Del_p.F934fs|ARHGAP5_uc001wro.2_Intron|ARHGAP5_uc001wrp.2_Intron	NM_001173	NP_001025226	Q13017	RHG05_HUMAN	Rho GTPase activating protein 5 isoform b	934					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)		CTTTACTCTGTTTTTTAGTGA	0.333												
KIF26A	26153	broad.mit.edu	37	14	104633326	104633326	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr14:104633326delC	uc001yos.3	+	5	1054	c.1054delC	c.(1054-1056)CCCfs	p.P352fs		NM_015656	NP_056471	Q9ULI4	KI26A_HUMAN	kinesin family member 26A	352					blood coagulation|enteric nervous system development|microtubule-based movement|negative regulation of signal transduction|regulation of cell growth by extracellular stimulus	cytosol|microtubule	ATP binding|microtubule binding|microtubule motor activity			pancreas(1)	1		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767)	Epithelial(46;0.152)	Epithelial(152;0.161)		GCCCCCGGCGCCCCCCTGCCT	0.731												
MTA1	9112	broad.mit.edu	37	14	105930432	105930432	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr14:105930432delG	uc001yqx.2	+	13	1327	c.1140delG	c.(1138-1140)ACGfs	p.T380fs	MTA1_uc001yqy.2_RNA|MTA1_uc001yrb.2_Frame_Shift_Del_p.T141fs	NM_004689	NP_004680	Q13330	MTA1_HUMAN	metastasis associated protein	380					signal transduction	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)	2		all_cancers(154;0.0293)|all_epithelial(191;0.128)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00897)|Epithelial(46;0.026)	Epithelial(152;0.19)		TGAACGGCACGGGGGCGCCGG	0.642												
MFAP1	4236	broad.mit.edu	37	15	44106833	44106834	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr15:44106833_44106834insT	uc001zth.1	-	4	666_667	c.482_483insA	c.(481-483)AATfs	p.N161fs		NM_005926	NP_005917	P55081	MFAP1_HUMAN	microfibrillar-associated protein 1	161						microfibril				skin(1)	1		all_cancers(109;7.57e-15)|all_epithelial(112;3.51e-12)|Lung NSC(122;4.72e-08)|all_lung(180;4.9e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.33e-07)		CCATCTCTTCATTTTTTCTCTC	0.460												
PIGB	9488	broad.mit.edu	37	15	55611484	55611484	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr15:55611484delG	uc002act.2	+	1	352	c.36delG	c.(34-36)CCGfs	p.P12fs	uc002acs.2_5'Flank|PIGB_uc010ugg.1_5'UTR	NM_004855	NP_004846	Q92521	PIGB_HUMAN	phosphatidylinositol glycan, class B	12					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	integral to membrane|intrinsic to endoplasmic reticulum membrane	glycolipid mannosyltransferase activity				0				all cancers(107;0.0255)		GAATGGAGCCGGGGGGCGGAG	0.577												
LOXL1	4016	broad.mit.edu	37	15	74235283	74235285	+	In_Frame_Del	DEL	GGA	GGA	-			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr15:74235283_74235285delGGA	uc002awc.1	+	2	1527_1529	c.1191_1193delGGA	c.(1189-1194)GCGGAG>GCG	p.E399del		NM_005576	NP_005567	Q08397	LOXL1_HUMAN	lysyl oxidase-like 1 preproprotein	399	Lysyl-oxidase like.				protein deamination	extracellular space	copper ion binding				0						GCTGTGCTGCGGAGGAGAAGTGT	0.596												
ABCC1	4363	broad.mit.edu	37	16	16165586	16165587	+	Splice_Site	INS	-	-	GT			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr16:16165586_16165587insGT	uc010bvi.2	+	14	2087	c.1912_splice	c.e14+1	p.G638_splice	ABCC1_uc010bvj.2_Splice_Site_p.G638_splice|ABCC1_uc010bvk.2_Splice_Site_p.G638_splice|ABCC1_uc010bvl.2_Splice_Site_p.G638_splice|ABCC1_uc010bvm.2_Splice_Site_p.G638_splice|ABCC1_uc002del.3_Splice_Site_p.G522_splice	NM_004996	NP_004987	P33527	MRP1_HUMAN	ATP-binding cassette, sub-family C, member 1						hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug	Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus	ATP binding|ATPase activity, coupled to transmembrane movement of substances			ovary(4)	4					Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)	TGTCAAAGACGGTGTGTGTGTG	0.569												
APOB48R	55911	broad.mit.edu	37	16	28508985	28508985	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr16:28508985delG	uc002dqb.1	+	3	2606	c.2596delG	c.(2596-2598)GGGfs	p.G866fs	uc010vct.1_Intron|APOB48R_uc010byg.1_Frame_Shift_Del_p.G404fs	NM_018690	NP_061160	Q0VD83	APOBR_HUMAN	apolipoprotein B48 receptor	866	Glu-rich.				cholesterol metabolic process|lipid transport	chylomicron|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle					0						GGTGGAGGCTGGGGGGCTTCT	0.627												
ZNF48	197407	broad.mit.edu	37	16	30409310	30409310	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr16:30409310delC	uc002dya.1	+	2	798	c.739delC	c.(739-741)CCCfs	p.P247fs	ZNF48_uc002dxz.1_Frame_Shift_Del_p.P124fs	NM_152652	NP_689865	Q96MX3	ZNF48_HUMAN	zinc finger protein 48	247					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						GGGGGAGCAGCCCCCCCGACC	0.637												
PRSS36	146547	broad.mit.edu	37	16	31151942	31151942	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr16:31151942delG	uc002ebd.2	-	13	2097	c.2038delC	c.(2038-2040)CTGfs	p.L680fs	PRSS36_uc010vff.1_Frame_Shift_Del_p.L455fs|PRSS36_uc010vfg.1_Frame_Shift_Del_p.L675fs|PRSS36_uc010vfh.1_Intron	NM_173502	NP_775773	Q5K4E3	POLS2_HUMAN	protease, serine, 36 precursor	680	Peptidase S1 3.				proteolysis	cytoplasm|proteinaceous extracellular matrix	serine-type endopeptidase activity			ovary(1)	1						AGGAGGGCCAGGGGGGGCCTG	0.726												
IRX3	79191	broad.mit.edu	37	16	54319087	54319087	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr16:54319087delC	uc002eht.1	-	2	1122	c.706delG	c.(706-708)GAGfs	p.E236fs		NM_024336	NP_077312	P78415	IRX3_HUMAN	iroquois homeobox 3	236	Asp/Glu-rich (acidic).				multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0						tcctcctcctcccccccgagc	0.284												
CX3CL1	6376	broad.mit.edu	37	16	57416105	57416105	+	Frame_Shift_Del	DEL	G	G	-	rs147669719		TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr16:57416105delG	uc002eli.2	+	3	422	c.355delG	c.(355-357)GGGfs	p.G119fs		NM_002996	NP_002987	P78423	X3CL1_HUMAN	chemokine (C-X3-C motif) ligand 1 precursor	119	Mucin-like stalk.|Extracellular (Potential).				cell adhesion|cytokine-mediated signaling pathway|defense response|immune response|leukocyte adhesive activation|positive regulation of calcium-independent cell-cell adhesion|positive regulation of inflammatory response	cell surface|extracellular space|integral to membrane|plasma membrane	chemokine activity				0						CCCTGCCGCCGGGGGAATGGA	0.647												
PLA2G15	23659	broad.mit.edu	37	16	68279440	68279440	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr16:68279440delC	uc002evr.2	+	1	194	c.111delC	c.(109-111)CACfs	p.H37fs	PLA2G15_uc010vld.1_Frame_Shift_Del_p.H37fs|PLA2G15_uc010vle.1_Frame_Shift_Del_p.H37fs|PLA2G15_uc010vlf.1_Frame_Shift_Del_p.H37fs	NM_012320	NP_036452	Q8NCC3	PAG15_HUMAN	lysophospholipase 3 (lysosomal phospholipase A2)	37					fatty acid catabolic process	extracellular region|lysosome	lysophospholipase activity|phosphatidylcholine-sterol O-acyltransferase activity|phospholipid binding			ovary(1)	1						CCGGACGTCACCCCCCAGTGG	0.711												
SNTB2	6645	broad.mit.edu	37	16	69317980	69317980	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr16:69317980delC	uc002ewu.2	+	5	1198	c.1178delC	c.(1177-1179)TCCfs	p.S393fs		NM_006750	NP_006741	Q13425	SNTB2_HUMAN	basic beta 2 syntrophin	393	PH 2.					cell junction|dystrophin-associated glycoprotein complex|membrane fraction|microtubule|transport vesicle membrane	actin binding|calmodulin binding|protein binding				0		Ovarian(137;0.101)		OV - Ovarian serous cystadenocarcinoma(108;0.208)		GGATGTCGATCCCCCTCCCTT	0.483												
ZDHHC7	55625	broad.mit.edu	37	16	85010039	85010039	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr16:85010039delG	uc002fiq.2	-	8	1190	c.837delC	c.(835-837)CCCfs	p.P279fs	ZDHHC7_uc010voi.1_Frame_Shift_Del_p.P316fs|ZDHHC7_uc002fir.1_RNA	NM_017740	NP_060210	Q9NXF8	ZDHC7_HUMAN	zinc finger, DHHC-type containing 7 isoform 2	279						integral to membrane	acyltransferase activity|protein binding|zinc ion binding			large_intestine(1)	1						AGAGGAGTGAGGGGGGCCCCC	0.587												
PER1	5187	broad.mit.edu	37	17	8050889	8050889	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr17:8050889delG	uc002gkd.2	-	12	1634	c.1396delC	c.(1396-1398)CTGfs	p.L466fs	PER1_uc010vuq.1_RNA|PER1_uc010vur.1_Frame_Shift_Del_p.L450fs	NM_002616	NP_002607	O15534	PER1_HUMAN	period 1	466					circadian rhythm|entrainment of circadian clock|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity			lung(2)|breast(2)|skin(2)|large_intestine(1)|ovary(1)|kidney(1)	9						TCCTCATTCAGGGGGGCCCTG	0.657			T	ETV6	AML|CMML			Other_conserved_DNA_damage_response_genes				
SEZ6	124925	broad.mit.edu	37	17	27296914	27296914	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr17:27296914delC	uc002hdp.2	-	4	1109	c.915delG	c.(913-915)GGGfs	p.G305fs	SEZ6_uc002hdm.2_RNA|SEZ6_uc010cry.1_Frame_Shift_Del_p.G305fs|SEZ6_uc002hdq.1_Frame_Shift_Del_p.G180fs|SEZ6_uc010crz.1_Frame_Shift_Del_p.G305fs	NM_178860	NP_849191	Q53EL9	SEZ6_HUMAN	seizure related 6 homolog isoform 1	305	Extracellular (Potential).					integral to membrane|plasma membrane				large_intestine(1)|central_nervous_system(1)	2	Lung NSC(42;0.0137)		Epithelial(11;4.73e-06)|all cancers(11;2.91e-05)|BRCA - Breast invasive adenocarcinoma(11;8.06e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.111)			GTGGGTCAGGCCCCCCCAGGC	0.612												
SRCIN1	80725	broad.mit.edu	37	17	36707452	36707452	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr17:36707452delG	uc002hqd.2	-	15	3126	c.2901delC	c.(2899-2901)CCCfs	p.P967fs	SRCIN1_uc002hqf.1_Frame_Shift_Del_p.P839fs|SRCIN1_uc002hqe.2_Frame_Shift_Del_p.P821fs	NM_025248	NP_079524	Q9C0H9	SRCN1_HUMAN	SNAP25-interacting protein	839	Pro-rich.				exocytosis|negative regulation of protein tyrosine kinase activity|positive regulation of protein tyrosine kinase activity|regulation of cell migration|regulation of dendritic spine morphogenesis|substrate adhesion-dependent cell spreading	actin cytoskeleton|axon|cell junction|cytoplasm|dendrite|postsynaptic density|postsynaptic membrane	protein kinase binding				0						GGGGGGCCTTGGGGGGCTTGT	0.672												
ABCA10	10349	broad.mit.edu	37	17	67189694	67189694	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr17:67189694delT	uc010dfa.1	-	15	2460	c.1581delA	c.(1579-1581)AAAfs	p.K527fs	ABCA10_uc010wqt.1_RNA|ABCA10_uc010dfb.1_Frame_Shift_Del_p.K128fs	NM_080282	NP_525021	Q8WWZ4	ABCAA_HUMAN	ATP-binding cassette, sub-family A, member 10	527	ABC transporter 1.				transport	integral to membrane	ATP binding|ATPase activity			ovary(2)|central_nervous_system(1)|skin(1)	4	Breast(10;6.95e-12)					CACCACTTAATTTTTTAGCAA	0.289												
RECQL5	9400	broad.mit.edu	37	17	73625328	73625328	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr17:73625328delC	uc010dgl.2	-	16	2331	c.2175delG	c.(2173-2175)GGGfs	p.G725fs	RECQL5_uc010dgk.2_Frame_Shift_Del_p.G698fs|RECQL5_uc002jot.3_5'Flank	NM_004259	NP_004250	O94762	RECQ5_HUMAN	RecQ protein-like 5 isoform 1	725					DNA recombination|DNA repair	cytoplasm|nuclear membrane|nucleolus|nucleoplasm	ATP binding|ATP-dependent helicase activity|DNA helicase activity|nucleic acid binding			kidney(3)	3	all_cancers(13;2.73e-08)|Breast(9;6.04e-09)|all_epithelial(9;6.79e-09)		all cancers(21;1.15e-06)|Epithelial(20;2.19e-06)|Lung(188;0.101)|LUSC - Lung squamous cell carcinoma(166;0.112)			CAGGGGAGGGCCCCCCATAGT	0.672								Other_identified_genes_with_known_or_suspected_DNA_repair_function				
MYL12A	10627	broad.mit.edu	37	18	3255845	3255845	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr18:3255845delA	uc002klr.2	+	4	840	c.445delA	c.(445-447)AAAfs	p.K149fs	MYL12A_uc002kls.2_Frame_Shift_Del_p.K155fs	NM_006471	NP_006462	P19105	ML12A_HUMAN	myosin, light chain 12A, regulatory,	149	EF-hand 3.					myosin complex	calcium ion binding|protein binding				0						ACCTATTGATAAAAAGGGGAA	0.433												
TSHZ1	10194	broad.mit.edu	37	18	72998443	72998443	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr18:72998443delC	uc002lly.2	+	2	1509	c.946delC	c.(946-948)CCCfs	p.P316fs		NM_005786	NP_005777	Q6ZSZ6	TSH1_HUMAN	teashirt family zinc finger 1	361						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)		GGACCTGGCGCCCCCCTGCTC	0.597												
PARD6G	84552	broad.mit.edu	37	18	77918406	77918406	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr18:77918406delG	uc002lny.2	-	3	545	c.379delC	c.(379-381)CGGfs	p.R127fs	LOC100130522_uc002lnx.2_Intron|LOC100130522_uc010xfn.1_Intron|LOC100130522_uc010xfo.1_Intron	NM_032510	NP_115899	Q9BYG4	PAR6G_HUMAN	PAR-6 gamma protein	127	Interaction with PARD3 and CDC42 (By similarity).				cell cycle|cell division|tight junction assembly	cytosol|tight junction	protein binding				0		all_cancers(4;5.63e-22)|all_epithelial(4;5.86e-15)|all_lung(4;1.32e-05)|Ovarian(4;1.33e-05)|Lung NSC(4;2.77e-05)|Esophageal squamous(42;0.0157)|all_hematologic(56;0.13)|Melanoma(33;0.144)		Epithelial(2;1.48e-13)|all cancers(1;5.77e-13)|OV - Ovarian serous cystadenocarcinoma(15;2.74e-10)|BRCA - Breast invasive adenocarcinoma(31;0.00166)|STAD - Stomach adenocarcinoma(84;0.18)|Lung(128;0.23)		GCACGCCGCCGGGGTCCTTCA	0.726												
C19orf26	255057	broad.mit.edu	37	19	1231206	1231206	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr19:1231206delC	uc002lrm.2	-	9	1305	c.1030delG	c.(1030-1032)GATfs	p.D344fs		NM_152769	NP_689982	Q8N350	DOS_HUMAN	downstream of Stk11	370						integral to membrane					0		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|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)		TGGGGGGCATCCCCCTCCTCC	0.711										HNSCC(14;0.022)		
SAFB	6294	broad.mit.edu	37	19	5667115	5667115	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr19:5667115delG	uc002mcf.2	+	18	2446	c.2393delG	c.(2392-2394)TGGfs	p.W798fs	SAFB_uc002mcg.2_Frame_Shift_Del_p.W798fs|SAFB_uc002mce.3_Frame_Shift_Del_p.W797fs|SAFB_uc010xir.1_Frame_Shift_Del_p.W797fs|SAFB_uc010xis.1_Frame_Shift_Del_p.W729fs|SAFB_uc010xit.1_Frame_Shift_Del_p.W640fs|SAFB_uc010xiu.1_Frame_Shift_Del_p.W597fs	NM_002967	NP_002958	Q15424	SAFB1_HUMAN	scaffold attachment factor B	798	Interaction with SAFB2.|Arg-rich.|Gly-rich.				chromatin organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	double-stranded DNA binding|nucleotide binding|protein binding|RNA binding			ovary(1)|liver(1)|skin(1)	3				UCEC - Uterine corpus endometrioid carcinoma (162;0.000222)		CGCGATGGCTGGGGGGGCTAT	0.642												
TMEM146	257062	broad.mit.edu	37	19	5754227	5754227	+	Frame_Shift_Del	DEL	C	C	-	rs116784915	by1000genomes	TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr19:5754227delC	uc002mda.2	+	13	1310	c.1249delC	c.(1249-1251)CCCfs	p.P417fs	TMEM146_uc010duj.1_Frame_Shift_Del_p.P75fs	NM_152784	NP_689997	Q86XM0	TM146_HUMAN	transmembrane protein 146 precursor	417	Extracellular (Potential).					integral to membrane				ovary(1)|central_nervous_system(1)|pancreas(1)	3						TTCGTTGATACCCCAGCCAGG	0.458												
OR7G2	390882	broad.mit.edu	37	19	9213598	9213599	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr19:9213598_9213599insA	uc010xkk.1	-	1	384_385	c.384_385insT	c.(382-387)TTTGCTfs	p.F128fs		NM_001005193	NP_001005193	Q8NG99	OR7G2_HUMAN	olfactory receptor, family 7, subfamily G,	107_108	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1						TCCAAGCCAGCAAAAAACAAGA	0.510												
CACNA1A	773	broad.mit.edu	37	19	13373629	13373629	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr19:13373629delT	uc010dze.2	-	25	4247	c.4011delA	c.(4009-4011)AAAfs	p.K1337fs	CACNA1A_uc010xnd.1_Frame_Shift_Del_p.K42fs|CACNA1A_uc002mwx.3_Frame_Shift_Del_p.K42fs|CACNA1A_uc010dzc.2_Frame_Shift_Del_p.K862fs|CACNA1A_uc002mwy.3_Frame_Shift_Del_p.K1336fs|CACNA1A_uc010xne.1_Frame_Shift_Del_p.K865fs	NM_001127221	NP_001120693	O00555	CAC1A_HUMAN	calcium channel, alpha 1A subunit isoform 3	1337	III.|Extracellular (Potential).				cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			large_intestine(2)	2			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	TGTTGATGTCTTTTCCTTTGC	0.527											OREG0025294	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
KCNN1	3780	broad.mit.edu	37	19	18084793	18084793	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr19:18084793delC	uc002nht.2	+	3	406	c.96delC	c.(94-96)CACfs	p.H32fs	KCNN1_uc010xqa.1_Frame_Shift_Del_p.H32fs	NM_002248	NP_002239	Q92952	KCNN1_HUMAN	potassium intermediate/small conductance	32					synaptic transmission	voltage-gated potassium channel complex	calmodulin binding|small conductance calcium-activated potassium channel activity				0						AGGCCGGCCACCCCCCACAAC	0.746												
ELL	8178	broad.mit.edu	37	19	18561518	18561519	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr19:18561518_18561519delCA	uc002njh.2	-	8	1305_1306	c.1233_1234delTG	c.(1231-1236)TGTGAGfs	p.C411fs	ELL_uc010ebq.2_Frame_Shift_Del_p.C354fs|ELL_uc002njg.2_Frame_Shift_Del_p.C278fs	NM_006532	NP_006523	P55199	ELL_HUMAN	elongation factor RNA polymerase II	411_412					positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	Cajal body|nuclear speck|transcription elongation factor complex	protein binding			lung(1)	1				GBM - Glioblastoma multiforme(1328;7.81e-07)		TCTCCGTGCTCACAGTCTCGGC	0.738			T	MLL	AL							
FKBP8	23770	broad.mit.edu	37	19	18649226	18649226	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr19:18649226delG	uc002njk.1	-	5	682	c.569delC	c.(568-570)CCGfs	p.P190fs	FKBP8_uc002nji.1_Frame_Shift_Del_p.P28fs|FKBP8_uc010xqi.1_Frame_Shift_Del_p.P219fs|FKBP8_uc002njj.1_Frame_Shift_Del_p.P191fs|FKBP8_uc002njl.1_Frame_Shift_Del_p.P191fs|FKBP8_uc002njm.1_Frame_Shift_Del_p.P190fs|FKBP8_uc010ebr.1_Frame_Shift_Del_p.P29fs|FKBP8_uc002njn.2_RNA	NM_012181	NP_036313	Q14318	FKBP8_HUMAN	FK506-binding protein 8	190	PPIase FKBP-type.				apoptosis|interspecies interaction between organisms|intracellular signal transduction|protein folding	integral to endoplasmic reticulum membrane|mitochondrial membrane	FK506 binding|peptidyl-prolyl cis-trans isomerase activity|protein binding			ovary(1)	1						GGCCGCGTGCGGGGGGATGTA	0.682												
MLL4	9757	broad.mit.edu	37	19	36223002	36223002	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr19:36223002delG	uc010eei.2	+	28	5631	c.5631delG	c.(5629-5631)TTGfs	p.L1877fs		NM_014727	NP_055542	Q9UMN6	MLL4_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 4	1877					chromatin-mediated maintenance of transcription		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(6)|breast(2)|ovary(1)|kidney(1)|skin(1)	11	all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GGAGGCCCTTGGGGGGTGTCT	0.672												
SIPA1L3	23094	broad.mit.edu	37	19	38610300	38610300	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr19:38610300delG	uc002ohk.2	+	9	3155	c.2646delG	c.(2644-2646)CAGfs	p.Q882fs		NM_015073	NP_055888	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like	882					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			ovary(1)|central_nervous_system(1)	2			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			ACTACGCCCAGGGGGTGGAAA	0.572												
RELB	5971	broad.mit.edu	37	19	45515357	45515357	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr19:45515357delC	uc002paj.1	+	5	453	c.327delC	c.(325-327)TGCfs	p.C109fs		NM_006509	NP_006500	Q01201	RELB_HUMAN	reticuloendotheliosis viral oncogene homolog B	109						nucleus	protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			ovary(1)	1		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00986)		CTTGGGGCTGCCCCCTGGGCC	0.766												
FBXO46	23403	broad.mit.edu	37	19	46216274	46216274	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr19:46216274delG	uc002pcy.2	-	2	605	c.480delC	c.(478-480)CCCfs	p.P160fs	FBXO46_uc002pcz.2_Frame_Shift_Del_p.P160fs	NM_001080469	NP_001073938	Q6PJ61	FBX46_HUMAN	F-box protein 46	160							protein binding			ovary(1)|lung(1)|breast(1)	3		Ovarian(192;0.179)|all_neural(266;0.224)		OV - Ovarian serous cystadenocarcinoma(262;0.00568)|GBM - Glioblastoma multiforme(486;0.0844)|Epithelial(262;0.201)		CGGCTGAGGCGGGGCCCTCCT	0.706												
IRF2BP1	26145	broad.mit.edu	37	19	46388666	46388666	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr19:46388666delG	uc002pds.1	-	1	711	c.367delC	c.(367-369)CTGfs	p.L123fs		NM_015649	NP_056464	Q8IU81	I2BP1_HUMAN	interferon regulatory factor 2 binding protein	123					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus					0		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.00442)|GBM - Glioblastoma multiforme(486;0.0402)|Epithelial(262;0.231)		GGCGAGGGCAGGGGGAGGCGG	0.751												
CABP5	56344	broad.mit.edu	37	19	48537535	48537535	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr19:48537535delG	uc002phu.1	-	5	558	c.433delC	c.(433-435)CGGfs	p.R145fs		NM_019855	NP_062829	Q9NP86	CABP5_HUMAN	calcium binding protein 5	145	EF-hand 4.				signal transduction	cytoplasm	calcium ion binding			skin(1)	1		all_cancers(25;1.86e-08)|all_lung(116;1.14e-06)|all_epithelial(76;1.16e-06)|Lung NSC(112;2.54e-06)|all_neural(266;0.0138)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;4.09e-05)|all cancers(93;0.000322)|Epithelial(262;0.01)|GBM - Glioblastoma multiforme(486;0.058)		GAGATCTCCCGGGGGGTGAGC	0.592												
SPHK2	56848	broad.mit.edu	37	19	49131529	49131530	+	Frame_Shift_Ins	INS	-	-	G	rs142182513	byFrequency	TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr19:49131529_49131530insG	uc002pjr.2	+	6	1233_1234	c.867_868insG	c.(865-870)CACGGGfs	p.H289fs	SPHK2_uc010xzt.1_Frame_Shift_Ins_p.H230fs|SPHK2_uc002pjs.2_Frame_Shift_Ins_p.H289fs|SPHK2_uc002pjt.2_Frame_Shift_Ins_p.H83fs|SPHK2_uc002pju.2_Frame_Shift_Ins_p.H253fs|SPHK2_uc002pjv.2_Frame_Shift_Ins_p.H253fs|SPHK2_uc002pjw.2_Frame_Shift_Ins_p.H351fs|SPHK2_uc010xzu.1_Frame_Shift_Ins_p.H253fs	NM_020126	NP_064511	Q9NRA0	SPHK2_HUMAN	sphingosine kinase 2	289_290	DAGKc.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis|cell proliferation|sphinganine-1-phosphate biosynthetic process	cytosol|lysosomal membrane|membrane fraction	ATP binding|D-erythro-sphingosine kinase activity|diacylglycerol kinase activity|Ras GTPase binding|sphinganine kinase activity			lung(1)	1		all_lung(116;0.000125)|Lung NSC(112;0.000202)|all_epithelial(76;0.000283)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158)		TGAACCAGCACGGGGGGTAGGT	0.624												
ZNF264	9422	broad.mit.edu	37	19	57724155	57724155	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr19:57724155delA	uc002qob.2	+	4	2103	c.1690delA	c.(1690-1692)AAAfs	p.K564fs		NM_003417	NP_003408	O43296	ZN264_HUMAN	zinc finger protein 264	564					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0135)		GCATACTGGGAAAAATCCCAT	0.443												
SPTBN1	6711	broad.mit.edu	37	2	54895695	54895695	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr2:54895695delA	uc002rxu.2	+	36	7333	c.7084delA	c.(7084-7086)AAAfs	p.K2362fs	SPTBN1_uc010you.1_Frame_Shift_Del_p.K352fs	NM_003128	NP_003119	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1 isoform 1	2362					actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton			ovary(3)|breast(2)|central_nervous_system(2)|skin(1)	8			Lung(47;0.24)			CCTTTTTGGCAAAAAGAAATG	0.502												
CCDC88A	55704	broad.mit.edu	37	2	55561924	55561925	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr2:55561924_55561925insT	uc002ryv.2	-	15	2874_2875	c.2032_2033insA	c.(2032-2034)ACAfs	p.T678fs	CCDC88A_uc010yoz.1_Frame_Shift_Ins_p.T678fs|CCDC88A_uc010ypa.1_Frame_Shift_Ins_p.T678fs|CCDC88A_uc010ypb.1_Frame_Shift_Ins_p.T580fs|CCDC88A_uc002ryu.2_5'UTR|CCDC88A_uc002ryw.2_5'UTR	NM_001135597	NP_001129069	Q3V6T2	GRDN_HUMAN	coiled-coil domain containing 88A isoform 1	678	Potential.				activation of protein kinase B activity|cell migration|cellular membrane organization|DNA replication|lamellipodium assembly|microtubule cytoskeleton organization|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of DNA replication|regulation of neuron projection development|TOR signaling cascade	cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|Golgi apparatus|lamellipodium|plasma membrane	actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding			ovary(2)|skin(2)	4						GCTATCCAATGTTTTTTTTAAT	0.287												
EHBP1	23301	broad.mit.edu	37	2	63176204	63176205	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr2:63176204_63176205insA	uc002sby.2	+	14	2810_2811	c.2328_2329insA	c.(2326-2331)AAGAAAfs	p.K776fs	EHBP1_uc010fcp.2_Frame_Shift_Ins_p.K741fs|EHBP1_uc002sbz.2_Frame_Shift_Ins_p.K741fs|EHBP1_uc002scb.2_Frame_Shift_Ins_p.K741fs	NM_015252	NP_056067	Q8NDI1	EHBP1_HUMAN	EH domain binding protein 1 isoform 1	776_777						cytoplasm|membrane				ovary(1)|breast(1)	2	Lung NSC(7;0.0951)|all_lung(7;0.169)		LUSC - Lung squamous cell carcinoma(7;7.74e-05)|Epithelial(17;0.189)			ACCTTGCTAAGAAAAAACATGC	0.376									Hereditary_Prostate_Cancer			
ADD2	119	broad.mit.edu	37	2	70933540	70933540	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr2:70933540delT	uc002sgz.2	-	3	466	c.1delA	c.(1-3)ATGfs	p.M1fs	ADD2_uc010fds.1_RNA|ADD2_uc002sgy.2_Frame_Shift_Del_p.M1fs|ADD2_uc002sha.2_Frame_Shift_Del_p.M1fs|ADD2_uc002sgx.2_Frame_Shift_Del_p.M1fs|ADD2_uc010fdt.1_Frame_Shift_Del_p.M1fs|ADD2_uc002shc.1_Frame_Shift_Del_p.M1fs|ADD2_uc002shd.1_Frame_Shift_Del_p.M1fs|ADD2_uc010fdu.1_Frame_Shift_Del_p.M17fs	NM_001617	NP_001608	P35612	ADDB_HUMAN	adducin 2 isoform a	1					actin filament bundle assembly|barbed-end actin filament capping|positive regulation of protein binding	cytoplasm|F-actin capping protein complex|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding			ovary(2)|pancreas(1)	3						TCTTCGCTCATTTTCCCGGTG	0.617												
DQX1	165545	broad.mit.edu	37	2	74747154	74747155	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr2:74747154_74747155insG	uc010yrw.1	-	9	1667_1668	c.1502_1503insC	c.(1501-1503)CCTfs	p.P501fs	DQX1_uc002smc.2_Frame_Shift_Ins_p.P62fs	NM_133637	NP_598376	Q8TE96	DQX1_HUMAN	DEAQ box polypeptide 1 (RNA-dependent ATPase)	501						nucleus	ATP binding|helicase activity|nucleic acid binding			ovary(2)	2						GGGTAAACCCAGGGGCAGCTGG	0.540												
LRP1B	53353	broad.mit.edu	37	2	141115624	141115624	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr2:141115624delT	uc002tvj.1	-	74	12291	c.11319delA	c.(11317-11319)AAAfs	p.K3773fs		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	3773	Extracellular (Potential).|LDL-receptor class A 32.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TAGGGATGCATTTTTTATTAC	0.388										TSP Lung(27;0.18)		
KYNU	8942	broad.mit.edu	37	2	143798151	143798151	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr2:143798151delG	uc002tvl.2	+	13	1326	c.1196delG	c.(1195-1197)CGGfs	p.R399fs	KYNU_uc010fnm.2_Frame_Shift_Del_p.R399fs	NM_003937	NP_003928	Q16719	KYNU_HUMAN	kynureninase (L-kynurenine hydrolase) isoform a	399					anthranilate metabolic process|NAD biosynthetic process|quinolinate biosynthetic process|response to interferon-gamma|response to vitamin B6	cytosol|mitochondrion|soluble fraction	kynureninase activity|protein homodimerization activity			skin(2)	2				BRCA - Breast invasive adenocarcinoma(221;0.072)	L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)	GTAGAGGAGCGGGGGTGCCAG	0.408												
KIF5C	3800	broad.mit.edu	37	2	149861973	149861973	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr2:149861973delA	uc010zbu.1	+	22	2808	c.2440delA	c.(2440-2442)AAAfs	p.K814fs	KIF5C_uc002tws.1_RNA|KIF5C_uc002twu.1_Frame_Shift_Del_p.K96fs	NM_004522	NP_004513	O60282	KIF5C_HUMAN	kinesin family member 5C	814					microtubule-based movement|organelle organization	cytoplasm|kinesin complex|microtubule	ATP binding|microtubule motor activity			skin(1)	1				BRCA - Breast invasive adenocarcinoma(221;0.108)		CACCCGAGTTAAAAAAGTGAG	0.423												
ITGA6	3655	broad.mit.edu	37	2	173338908	173338910	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr2:173338908_173338910delCTC	uc002uhp.1	+	6	1104_1106	c.901_903delCTC	c.(901-903)CTCdel	p.L302del	ITGA6_uc010fqk.1_In_Frame_Del_p.L188del|ITGA6_uc010zdy.1_In_Frame_Del_p.L183del|ITGA6_uc002uho.1_In_Frame_Del_p.L302del|ITGA6_uc010fqm.1_5'Flank	NM_001079818	NP_001073286	P23229	ITA6_HUMAN	integrin alpha chain, alpha 6 isoform a	341	FG-GAP 5.|Extracellular (Potential).				blood coagulation|cell adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|positive regulation of apoptosis|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter	integrin complex	protein binding|receptor activity			ovary(1)|lung(1)	2			OV - Ovarian serous cystadenocarcinoma(117;0.0979)			GTCTGCACATCTCCTCCCTGAGC	0.488												
UBE2E3	10477	broad.mit.edu	37	2	181846888	181846890	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr2:181846888_181846890delCTT	uc002unq.1	+	3	338_340	c.119_121delCTT	c.(118-123)CCTTCT>CCT	p.S41del	UBE2E3_uc002unr.1_In_Frame_Del_p.S41del|UBE2E3_uc010fri.1_In_Frame_Del_p.S41del	NM_182678	NP_872619	Q969T4	UB2E3_HUMAN	ubiquitin-conjugating enzyme E2E 3	41					protein K11-linked ubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|regulation of growth	cytoplasm|nucleolus	ATP binding|protein binding|ubiquitin-protein ligase activity			ovary(1)	1						GAAAGAAAACCTTCTGCCACCCA	0.502												
CERKL	375298	broad.mit.edu	37	2	182468750	182468751	+	Frame_Shift_Del	DEL	AT	AT	-			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr2:182468750_182468751delAT	uc002unx.2	-	2	395_396	c.294_295delAT	c.(292-297)ATATTCfs	p.I98fs	CERKL_uc002uny.2_Frame_Shift_Del_p.I98fs|CERKL_uc010zfm.1_Frame_Shift_Del_p.I98fs|CERKL_uc002unz.2_5'UTR|CERKL_uc002uoa.2_Frame_Shift_Del_p.I98fs|CERKL_uc002uob.2_5'UTR|CERKL_uc002uoc.2_Frame_Shift_Del_p.I98fs|CERKL_uc010frk.2_RNA|CERKL_uc002uod.1_5'UTR|CERKL_uc002uoe.2_Frame_Shift_Del_p.I98fs	NM_001030311	NP_001025482	Q49MI3	CERKL_HUMAN	ceramide kinase-like isoform b	98_99					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis	endoplasmic reticulum|endoplasmic reticulum|Golgi apparatus|Golgi apparatus|nucleolus|nucleolus	diacylglycerol kinase activity			ovary(2)|kidney(1)|skin(1)	4			OV - Ovarian serous cystadenocarcinoma(117;0.088)			TTCACAGAGAATATGTCTTTGA	0.302												
ADAM23	8745	broad.mit.edu	37	2	207308784	207308784	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr2:207308784delG	uc002vbq.2	+	1	417	c.194delG	c.(193-195)TGGfs	p.W65fs	ADAM23_uc010ziv.1_5'Flank	NM_003812	NP_003803	O75077	ADA23_HUMAN	ADAM metallopeptidase domain 23 preproprotein	65					cell adhesion|central nervous system development|proteolysis	extracellular region|integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			skin(2)|ovary(1)	3				LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205)		CCCCGCGCCTGGGGGGCTGCT	0.761												
ADAM23	8745	broad.mit.edu	37	2	207310055	207310055	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr2:207310055delA	uc002vbq.2	+	2	462	c.239delA	c.(238-240)GAAfs	p.E80fs	ADAM23_uc010ziv.1_RNA	NM_003812	NP_003803	O75077	ADA23_HUMAN	ADAM metallopeptidase domain 23 preproprotein	80					cell adhesion|central nervous system development|proteolysis	extracellular region|integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			skin(2)|ovary(1)	3				LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205)		GAAACTGCAGAAAAAAATTTG	0.418												
FAM119A	151194	broad.mit.edu	37	2	208477876	208477878	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr2:208477876_208477878delAAG	uc002vcf.2	-	4	709_711	c.549_551delCTT	c.(547-552)TTCTTA>TTA	p.F183del	FAM119A_uc002vce.2_Intron|FAM119A_uc010fuk.1_In_Frame_Del_p.F183del|FAM119A_uc002vcg.3_In_Frame_Del_p.F183del	NM_145280	NP_660323	Q8WXB1	MT21A_HUMAN	hypothetical protein LOC151194	183						integral to membrane	methyltransferase activity				0				LUSC - Lung squamous cell carcinoma(261;0.0705)|Epithelial(149;0.131)|Lung(261;0.135)		CAGCATTGCTAAGAAGTTGTTAT	0.409												
CCDC108	255101	broad.mit.edu	37	2	219892637	219892637	+	Frame_Shift_Del	DEL	G	G	-	rs144433350		TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr2:219892637delG	uc002vjl.1	-	13	2030	c.1946delC	c.(1945-1947)CCGfs	p.P649fs	CCDC108_uc010fwa.1_Frame_Shift_Del_p.P92fs|CCDC108_uc010zkp.1_Frame_Shift_Del_p.P638fs|CCDC108_uc010zkq.1_Frame_Shift_Del_p.P584fs	NM_194302	NP_919278	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108 isoform 1	649						integral to membrane	structural molecule activity			ovary(2)|upper_aerodigestive_tract(1)|pancreas(1)	4		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		ACTGATGGGCGGGGGGAAGAT	0.617												
PPP1R7	5510	broad.mit.edu	37	2	242092999	242092999	+	Frame_Shift_Del	DEL	G	G	-	rs140300724		TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr2:242092999delG	uc002wat.1	+	2	176	c.161delG	c.(160-162)CGGfs	p.R54fs	PPP1R7_uc010fzm.1_Frame_Shift_Del_p.R38fs|PPP1R7_uc002war.2_Frame_Shift_Del_p.R54fs|PPP1R7_uc002was.2_Frame_Shift_Del_p.R54fs|PPP1R7_uc002wau.1_Intron|PPP1R7_uc002wav.1_5'UTR	NM_002712	NP_002703	Q15435	PP1R7_HUMAN	protein phosphatase 1, regulatory subunit 7	54						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)		GGGGAGGAGCGGGGGGAGGAG	0.627												
OXT	5020	broad.mit.edu	37	20	3052728	3052728	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr20:3052728delC	uc002wht.1	+	2	162	c.126delC	c.(124-126)CTCfs	p.L42fs		NM_000915	NP_000906	P01178	NEU1_HUMAN	oxytocin-neurophysin I preproprotein	42					signal transduction		neurohypophyseal hormone activity				0					Oxytocin(DB00107)	CGCAGTGCCTCCCCTGCGGCC	0.766												
PLCB1	23236	broad.mit.edu	37	20	8703048	8703048	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr20:8703048delA	uc002wnb.2	+	15	1564	c.1561delA	c.(1561-1563)AAAfs	p.K521fs	PLCB1_uc010zrb.1_Frame_Shift_Del_p.K420fs|PLCB1_uc002wna.2_Frame_Shift_Del_p.K521fs|PLCB1_uc002wnc.1_Frame_Shift_Del_p.K420fs|PLCB1_uc002wnd.1_Frame_Shift_Del_p.K98fs	NM_015192	NP_056007	Q9NQ66	PLCB1_HUMAN	phosphoinositide-specific phospholipase C beta 1	521					activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity			ovary(4)|breast(3)|upper_aerodigestive_tract(2)|skin(2)|lung(1)	12						TGATGACTGTAAAAAATCTTC	0.433												
GZF1	64412	broad.mit.edu	37	20	23345195	23345195	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr20:23345195delT	uc010gdb.2	+	3	349	c.175delT	c.(175-177)TTTfs	p.F59fs	GZF1_uc002wsy.2_Frame_Shift_Del_p.F59fs|GZF1_uc010zsq.1_Intron|GZF1_uc010zsr.1_Intron|GZF1_uc002wsz.2_Frame_Shift_Del_p.F59fs	NM_022482	NP_071927	Q9H116	GZF1_HUMAN	GDNF-inducible zinc finger protein 1	59	BTB.				transcription, DNA-dependent	nucleolus|nucleoplasm	sequence-specific DNA binding|zinc ion binding			kidney(1)	1	Lung NSC(19;0.0605)|Colorectal(13;0.0993)|all_lung(19;0.135)					CACCAGCAAGTTTTTTAAGGA	0.483												
ASXL1	171023	broad.mit.edu	37	20	31017181	31017182	+	Frame_Shift_Del	DEL	GA	GA	-			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr20:31017181_31017182delGA	uc002wxs.2	+	6	938_939	c.512_513delGA	c.(511-513)CGAfs	p.R171fs	ASXL1_uc010geb.2_Frame_Shift_Del_p.R113fs	NM_015338	NP_056153	Q8IXJ9	ASXL1_HUMAN	additional sex combs like 1 isoform 1	171					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PR-DUB complex	metal ion binding|protein binding			haematopoietic_and_lymphoid_tissue(239)|large_intestine(6)|central_nervous_system(2)|ovary(1)	248						ATGCTGCCTCGAGTTGTCCTGA	0.495			F|N|Mis		MDS|CMML							
KIAA0406	9675	broad.mit.edu	37	20	36627613	36627613	+	Frame_Shift_Del	DEL	G	G	-	rs149568606		TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr20:36627613delG	uc002xhl.2	-	6	2979	c.2770delC	c.(2770-2772)CTGfs	p.L924fs	KIAA0406_uc002xhm.2_Frame_Shift_Del_p.L924fs	NM_014657	NP_055472	O43156	TTI1_HUMAN	hypothetical protein LOC9675	924							binding				0		Myeloproliferative disorder(115;0.00874)				AGCACTGCCAGGGGGGCGTCC	0.577												
SYCP2	10388	broad.mit.edu	37	20	58467740	58467741	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr20:58467740_58467741insT	uc002yaz.2	-	22	1948_1949	c.1809_1810insA	c.(1807-1812)TTAGACfs	p.L603fs		NM_014258	NP_055073	Q9BX26	SYCP2_HUMAN	synaptonemal complex protein 2	603_604					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)			CAGATGTTGTCTAAAACACCAG	0.332												
DNMT3L	29947	broad.mit.edu	37	21	45666330	45666330	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr21:45666330delG	uc002zeg.1	-	12	1595	c.1111delC	c.(1111-1113)CTAfs	p.L371fs	DNMT3L_uc002zeh.1_Frame_Shift_Del_p.L372fs	NM_175867	NP_787063	Q9UJW3	DNM3L_HUMAN	cytosine-5-methyltransferase 3-like protein	371					DNA methylation|negative regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|spermatogenesis	cytosol	enzyme activator activity|enzyme binding|metal ion binding			skin(2)	2				Colorectal(79;0.0165)|READ - Rectum adenocarcinoma(84;0.0781)		TATTCTCTTAGGGGGAGAAAG	0.448												
KRTAP10-1	386677	broad.mit.edu	37	21	45959500	45959500	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr21:45959500delG	uc002zfh.1	-	1	579	c.534delC	c.(532-534)CCCfs	p.P178fs	C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron	NM_198691	NP_941964	P60331	KR101_HUMAN	keratin associated protein 10-1	178	24 X 5 AA repeats of C-C-X(3).					keratin filament				skin(1)	1						CCTGCTGGCAGGGGGAGGAGG	0.617												
BAIAP2L2	80115	broad.mit.edu	37	22	38503898	38503899	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr22:38503898_38503899delAG	uc003auw.2	-	4	380_381	c.236_237delCT	c.(235-237)TCTfs	p.S79fs		NM_025045	NP_079321	Q6UXY1	BI2L2_HUMAN	BAI1-associated protein 2-like 2	79	IMD.				filopodium assembly|signal transduction		cytoskeletal adaptor activity|SH3 domain binding			pancreas(1)	1	Melanoma(58;0.045)					GCTGGGTGTCAGACATCTGCAC	0.619												
EP300	2033	broad.mit.edu	37	22	41545781	41545782	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr22:41545781_41545782insT	uc003azl.3	+	14	2791_2792	c.2396_2397insT	c.(2395-2397)TCTfs	p.S799fs		NM_001429	NP_001420	Q09472	EP300_HUMAN	E1A binding protein p300	799	Poly-Ser.				apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(22)|large_intestine(13)|breast(9)|central_nervous_system(5)|upper_aerodigestive_tract(4)|pancreas(4)|lung(3)|ovary(2)|stomach(1)|skin(1)	64						ATGTCTAGTTCTTCCTGCCCGG	0.416			T| N|F|Mis|O	MLL|RUNXBP2	colorectal|breast|pancreatic|AML|ALL|DLBCL				Rubinstein-Taybi_syndrome			
ZBED4	9889	broad.mit.edu	37	22	50280682	50280682	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr22:50280682delC	uc003bix.2	+	2	3842	c.3372delC	c.(3370-3372)TGCfs	p.C1124fs		NM_014838	NP_055653	O75132	ZBED4_HUMAN	zinc finger, BED-type containing 4	1124						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)		TTTTGGGCTGCCCCCCAAGCA	0.552												
RAD18	56852	broad.mit.edu	37	3	8944121	8944121	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr3:8944121delT	uc003brd.2	-	10	1188	c.1111delA	c.(1111-1113)ACAfs	p.T371fs	RAD18_uc003bre.2_RNA	NM_020165	NP_064550	Q9NS91	RAD18_HUMAN	postreplication repair protein hRAD18p	371					DNA repair	nucleus|replication fork	damaged DNA binding|ligase activity|ubiquitin protein ligase binding|Y-form DNA binding|zinc ion binding			skin(3)|ovary(2)	5				OV - Ovarian serous cystadenocarcinoma(96;0.0552)		ATTGTTACTGTTTTTTGTGAC	0.318								Rad6_pathway				
PTPN23	25930	broad.mit.edu	37	3	47451532	47451532	+	Frame_Shift_Del	DEL	C	C	-	rs77776224	byFrequency	TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr3:47451532delC	uc003crf.1	+	20	2340	c.2244delC	c.(2242-2244)CTCfs	p.L748fs	PTPN23_uc011baw.1_Frame_Shift_Del_p.L713fs|PTPN23_uc011bax.1_Intron|PTPN23_uc011bay.1_Frame_Shift_Del_p.L618fs	NM_015466	NP_056281	Q9H3S7	PTN23_HUMAN	protein tyrosine phosphatase, non-receptor type	748	Pro-rich.				cilium morphogenesis	cilium|cytoplasmic membrane-bounded vesicle|microtubule basal body	protein tyrosine phosphatase activity			breast(1)|central_nervous_system(1)|skin(1)	3				BRCA - Breast invasive adenocarcinoma(193;0.000271)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		TGCGCAGCCTCCCCCCTGACA	0.701												
APEH	327	broad.mit.edu	37	3	49714427	49714427	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr3:49714427delC	uc003cxf.2	+	10	1369	c.969delC	c.(967-969)ATCfs	p.I323fs	APEH_uc010hkw.1_Frame_Shift_Del_p.I323fs	NM_001640	NP_001631	P13798	ACPH_HUMAN	N-acylaminoacyl-peptide hydrolase	323					proteolysis	cytoplasm|nuclear membrane	serine-type endopeptidase activity			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		CATCTCTGATCCCCCATCACC	0.602												
FAM116A	201627	broad.mit.edu	37	3	57619023	57619023	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr3:57619023delA	uc003dja.2	-	15	1393	c.1322delT	c.(1321-1323)TTGfs	p.L441fs		NM_152678	NP_689891	Q8IWF6	F116A_HUMAN	hypothetical protein LOC201627	441										pancreas(1)	1				BRCA - Breast invasive adenocarcinoma(55;0.000621)|KIRC - Kidney renal clear cell carcinoma(284;0.0485)|Kidney(284;0.0607)		TGTCAGTTCCAAAAAATAGCG	0.328												
ZBTB20	26137	broad.mit.edu	37	3	114058003	114058003	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr3:114058003delG	uc003ebi.2	-	5	2255	c.2075delC	c.(2074-2076)CCTfs	p.P692fs	ZBTB20_uc003ebj.2_Frame_Shift_Del_p.P619fs|ZBTB20_uc010hqp.2_Frame_Shift_Del_p.P619fs|ZBTB20_uc003ebk.2_Frame_Shift_Del_p.P619fs|ZBTB20_uc003ebl.2_Frame_Shift_Del_p.P619fs|ZBTB20_uc003ebm.2_Frame_Shift_Del_p.P619fs|ZBTB20_uc003ebn.2_Frame_Shift_Del_p.P619fs	NM_015642	NP_056457	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20 isoform	692					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)		TGTGCCTGCAGGGGGGGTCCC	0.632												
FBXO40	51725	broad.mit.edu	37	3	121340411	121340412	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr3:121340411_121340412insT	uc003eeg.2	+	3	345_346	c.135_136insT	c.(133-138)ACCTTCfs	p.T45fs		NM_016298	NP_057382	Q9UH90	FBX40_HUMAN	F-box protein 40	45_46					muscle cell differentiation	centrosome|nucleus	ubiquitin-protein ligase activity|zinc ion binding			ovary(2)|lung(1)|breast(1)|central_nervous_system(1)	5				GBM - Glioblastoma multiforme(114;0.189)		GTGGTGCCACCTTCCACATGTG	0.574												
MSL2	55167	broad.mit.edu	37	3	135871342	135871344	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr3:135871342_135871344delAGA	uc003eqx.1	-	2	1112_1114	c.379_381delTCT	c.(379-381)TCTdel	p.S127del	MSL2_uc011bmb.1_In_Frame_Del_p.S53del	NM_018133	NP_060603	Q9HCI7	MSL2_HUMAN	ring finger protein 184 isoform 1	127					histone H4-K16 acetylation	MSL complex	zinc ion binding			central_nervous_system(1)	1						CCAAAATATCAGAAGAACAGTCA	0.384												
P2RY12	64805	broad.mit.edu	37	3	151055936	151055936	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr3:151055936delT	uc003eyw.1	-	2	914	c.698delA	c.(697-699)AAGfs	p.K233fs	MED12L_uc011bnz.1_Intron|MED12L_uc003eyp.2_Intron|P2RY12_uc011boa.1_3'UTR|P2RY12_uc003eyx.1_Frame_Shift_Del_p.K233fs	NM_176876	NP_795345	Q9H244	P2Y12_HUMAN	purinergic receptor P2Y12	233	Cytoplasmic (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)	GACGTTCACCTTTTTCCTGGG	0.373												
NMD3	51068	broad.mit.edu	37	3	160964183	160964183	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr3:160964183delT	uc003feb.1	+	12	1196	c.1077delT	c.(1075-1077)TATfs	p.Y359fs	NMD3_uc003fec.2_Frame_Shift_Del_p.Y359fs|NMD3_uc003fed.1_Frame_Shift_Del_p.Y359fs|NMD3_uc010hwh.2_Frame_Shift_Del_p.Y179fs	NM_015938	NP_057022	Q96D46	NMD3_HUMAN	NMD3 homolog	359					protein transport	cytoplasm|nucleolus|nucleoplasm				ovary(1)	1			Lung(72;0.00111)|LUSC - Lung squamous cell carcinoma(72;0.00156)			ATAAACAGTATTTTTGTCGTA	0.353												
USP13	8975	broad.mit.edu	37	3	179472611	179472611	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr3:179472611delC	uc003fkh.2	+	15	1971	c.1890delC	c.(1888-1890)AGCfs	p.S630fs	USP13_uc003fkf.2_Frame_Shift_Del_p.A558fs	NM_003940	NP_003931	Q92995	UBP13_HUMAN	ubiquitin thiolesterase 13	630					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)			CAGACATCAGCCCCCCCATAG	0.483												
POLN	353497	broad.mit.edu	37	4	2200403	2200403	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr4:2200403delT	uc003ger.2	-	4	756	c.756delA	c.(754-756)AAAfs	p.K252fs	POLN_uc010ich.1_5'UTR|POLN_uc011bvi.1_Frame_Shift_Del_p.K252fs	NM_181808	NP_861524	Q7Z5Q5	DPOLN_HUMAN	DNA-directed DNA polymerase nu	252					DNA repair|DNA replication	nucleus	DNA binding|DNA-directed DNA polymerase activity			kidney(2)|ovary(1)|skin(1)	4			OV - Ovarian serous cystadenocarcinoma(23;0.0955)			CTGCTTGGCGTTTTACTAACA	0.458								DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage				
DOK7	285489	broad.mit.edu	37	4	3494970	3494970	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr4:3494970delC	uc003ghd.2	+	7	1327	c.1257delC	c.(1255-1257)AGCfs	p.S419fs	DOK7_uc003ghe.2_Frame_Shift_Del_p.S281fs|DOK7_uc003ghf.2_Frame_Shift_Del_p.A161fs|DOK7_uc003ghg.1_Frame_Shift_Del_p.S109fs	NM_173660	NP_775931	Q18PE1	DOK7_HUMAN	downstream of tyrosine kinase 7 isoform 1	419					positive regulation of protein tyrosine kinase activity	cell junction|synapse	insulin receptor binding|protein kinase binding			skin(1)	1				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		GAGACCACAGCCCCCCCTCAC	0.711												
SLAIN2	57606	broad.mit.edu	37	4	48371975	48371975	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr4:48371975delA	uc003gya.3	+	2	643	c.499delA	c.(499-501)AAAfs	p.K167fs		NM_020846	NP_065897	Q9P270	SLAI2_HUMAN	SLAIN motif family, member 2	167						centrosome					0						TGAGTGTGCTAAAAAATCTCT	0.343												
STAP1	26228	broad.mit.edu	37	4	68456664	68456664	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr4:68456664delA	uc003hde.3	+	7	804	c.722delA	c.(721-723)GAAfs	p.E241fs	STAP1_uc003hdf.2_Frame_Shift_Del_p.E241fs	NM_012108	NP_036240	Q9ULZ2	STAP1_HUMAN	signal transducing adaptor family member 1	241	SH2.				cellular membrane fusion|intracellular protein transport	cytoplasm					0						ATTGAACTGGAAAAACCTGTA	0.383												
EREG	2069	broad.mit.edu	37	4	75246761	75246762	+	Frame_Shift_Del	DEL	AA	AA	-	rs145916659	byFrequency	TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr4:75246761_75246762delAA	uc003hie.1	+	3	351_352	c.185_186delAA	c.(184-186)CAAfs	p.Q62fs	EREG_uc003hid.2_Frame_Shift_Del_p.Q56fs	NM_001432	NP_001423	O14944	EREG_HUMAN	epiregulin preproprotein	62	Extracellular (Potential).				angiogenesis|cell-cell signaling|cytokine-mediated signaling pathway|epidermal growth factor receptor signaling pathway|female meiosis|keratinocyte differentiation|keratinocyte proliferation|luteinizing hormone signaling pathway|mRNA transcription|negative regulation of epithelial cell proliferation|negative regulation of smooth muscle cell differentiation|negative regulation of transcription, DNA-dependent|oocyte maturation|organ morphogenesis|ovarian cumulus expansion|ovulation|positive regulation of cell division|positive regulation of cytokine production|positive regulation of DNA replication|positive regulation of epidermal growth factor receptor activity|positive regulation of fibroblast proliferation|positive regulation of innate immune response|positive regulation of interleukin-6 biosynthetic process|positive regulation of mitosis|positive regulation of phosphorylation|positive regulation of smooth muscle cell proliferation|primary follicle stage|wound healing	extracellular space|integral to plasma membrane	epidermal growth factor receptor binding|growth factor activity			breast(1)|skin(1)	2			Lung(101;0.196)			CGTGTGGCTCAAGTGTCAATAA	0.396												
BMP3	651	broad.mit.edu	37	4	81967644	81967644	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr4:81967644delA	uc003hmg.3	+	2	1389	c.1069delA	c.(1069-1071)AAAfs	p.K357fs		NM_001201	NP_001192	P12645	BMP3_HUMAN	bone morphogenetic protein 3 preproprotein	357					cartilage development|cell differentiation|cell-cell signaling|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity			ovary(4)|central_nervous_system(1)	5						GCAGACCCTGAAAAAGGCAAG	0.478												
PKD2	5311	broad.mit.edu	37	4	88979251	88979251	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr4:88979251delT	uc003hre.2	+	9	2081	c.2015delT	c.(2014-2016)CTTfs	p.L672fs	PKD2_uc011cdf.1_Frame_Shift_Del_p.L90fs|PKD2_uc011cdg.1_Intron|PKD2_uc011cdh.1_Intron	NM_000297	NP_000288	Q13563	PKD2_HUMAN	polycystin 2	672	Helical; (Potential).					basal cortex|basal plasma membrane|endoplasmic reticulum|integral to membrane|lamellipodium|microtubule basal body	calcium ion binding|cytoskeletal protein binding|voltage-gated chloride channel activity|voltage-gated sodium channel activity			skin(1)	1		Hepatocellular(203;0.114)|Acute lymphoblastic leukemia(40;0.221)		OV - Ovarian serous cystadenocarcinoma(123;9.98e-10)|COAD - Colon adenocarcinoma(81;0.0237)		TTCTTCATTCTTTTGGTATGT	0.308												
GPRIN3	285513	broad.mit.edu	37	4	90170454	90170454	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr4:90170454delG	uc003hsm.1	-	2	1327	c.808delC	c.(808-810)CTCfs	p.L270fs		NM_198281	NP_938022	Q6ZVF9	GRIN3_HUMAN	G protein-regulated inducer of neurite outgrowth	270										ovary(3)	3		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;5.67e-05)		TCGCTAGTGAGGGGGGTTGGT	0.557												
TRAM1L1	133022	broad.mit.edu	37	4	118005517	118005517	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr4:118005517delT	uc003ibv.3	-	1	1220	c.1033delA	c.(1033-1035)AGAfs	p.R345fs		NM_152402	NP_689615	Q8N609	TR1L1_HUMAN	translocation associated membrane protein 1-like	345	Cytoplasmic (Potential).				protein transport|transmembrane transport	endoplasmic reticulum membrane|integral to membrane				central_nervous_system(1)	1						TTTTCTGTTCTTTTTTTAGAA	0.383												
SPATA5	166378	broad.mit.edu	37	4	123859335	123859335	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr4:123859335delG	uc003iez.3	+	8	1462	c.1389delG	c.(1387-1389)GAGfs	p.E463fs	SPATA5_uc003iey.2_Frame_Shift_Del_p.E462fs	NM_145207	NP_660208	Q8NB90	SPAT5_HUMAN	spermatogenesis associated 5	463					cell differentiation|multicellular organismal development|spermatogenesis	mitochondrion	ATP binding|nucleoside-triphosphatase activity				0						CGAAAAGAGAGGGGGCCCAGA	0.363												
HHIP	64399	broad.mit.edu	37	4	145627734	145627734	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr4:145627734delA	uc003ijs.1	+	5	1538	c.883delA	c.(883-885)AAAfs	p.K295fs		NM_022475	NP_071920	Q96QV1	HHIP_HUMAN	hedgehog-interacting protein precursor	295						cytoplasm|extracellular region	catalytic activity|protein binding|zinc ion binding			ovary(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	6	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0185)		CAATTACAAGAAAAATGGAAA	0.418												
ABCE1	6059	broad.mit.edu	37	4	146041093	146041093	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr4:146041093delT	uc003ijx.2	+	11	1372	c.932delT	c.(931-933)ATTfs	p.I311fs	ABCE1_uc003ijy.2_Frame_Shift_Del_p.I311fs|ABCE1_uc010iot.2_RNA	NM_001040876	NP_001035809	P61221	ABCE1_HUMAN	ATP-binding cassette, sub-family E, member 1	311	ABC transporter 1.				interspecies interaction between organisms|response to virus|RNA catabolic process	mitochondrion	ATP binding|ATPase activity|electron carrier activity|iron-sulfur cluster binding|ribonuclease inhibitor activity			skin(1)	1	all_hematologic(180;0.151)					GGCATAAACATTTTTTTGGAT	0.358												
RBM46	166863	broad.mit.edu	37	4	155720146	155720146	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr4:155720146delT	uc003ioo.2	+	4	1005	c.832delT	c.(832-834)TTTfs	p.F278fs	RBM46_uc011cim.1_Frame_Shift_Del_p.F278fs|RBM46_uc003iop.1_Frame_Shift_Del_p.F278fs	NM_144979	NP_659416	Q8TBY0	RBM46_HUMAN	RNA binding motif protein 46	278	RRM 3.						nucleotide binding|RNA binding			central_nervous_system(1)|skin(1)	2	all_hematologic(180;0.24)	Renal(120;0.0854)				TTTTGTTCACTTTTTCAACCG	0.368												
DNAH5	1767	broad.mit.edu	37	5	13845086	13845087	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr5:13845086_13845087insT	uc003jfd.2	-	32	5172_5173	c.5130_5131insA	c.(5128-5133)AAACGAfs	p.K1710fs		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1710_1711	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1)	31	Lung NSC(4;0.00476)					AAGCACAGTCGTTTTTTCTCCA	0.460									Kartagener_syndrome			
RAI14	26064	broad.mit.edu	37	5	34814751	34814751	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr5:34814751delT	uc003jir.2	+	12	1112	c.916delT	c.(916-918)TTTfs	p.F306fs	RAI14_uc010iur.2_Frame_Shift_Del_p.F277fs|RAI14_uc011coj.1_Frame_Shift_Del_p.F306fs|RAI14_uc010ius.1_Frame_Shift_Del_p.F235fs|RAI14_uc003jis.2_Frame_Shift_Del_p.F309fs|RAI14_uc003jit.2_Frame_Shift_Del_p.F306fs|RAI14_uc011cok.1_Frame_Shift_Del_p.F298fs	NM_015577	NP_056392	Q9P0K7	RAI14_HUMAN	retinoic acid induced 14 isoform a	306						cell cortex|cytoskeleton	protein binding			ovary(1)	1	all_lung(31;0.000191)					GGAATCGGTATTTTTTGCTGA	0.323												
C5orf42	65250	broad.mit.edu	37	5	37162611	37162611	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr5:37162611delT	uc011cpa.1	-	38	7877	c.7646delA	c.(7645-7647)AAGfs	p.K2549fs	C5orf42_uc011coy.1_Frame_Shift_Del_p.K1049fs|C5orf42_uc003jks.2_RNA|C5orf42_uc011coz.1_Frame_Shift_Del_p.K1624fs	NM_023073	NP_075561	E9PH94	E9PH94_HUMAN	hypothetical protein LOC65250	2549										ovary(4)|breast(2)|skin(1)	7	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			TATAGCTTTCTTTTTTACAGA	0.284												
ANKRD32	84250	broad.mit.edu	37	5	94030769	94030769	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr5:94030769delA	uc003kkr.3	+	21	3009	c.2929delA	c.(2929-2931)ATTfs	p.I977fs	ANKRD32_uc003kks.2_Frame_Shift_Del_p.I341fs	NM_032290	NP_115666	Q9BQI6	ANR32_HUMAN	ankyrin repeat domain 32	977										ovary(2)	2		all_cancers(142;1.51e-09)|all_epithelial(76;4.68e-12)|all_lung(232;5.94e-05)|Ovarian(174;0.000953)|Lung NSC(167;0.00105)|Colorectal(57;0.122)|Lung SC(612;0.152)		all cancers(79;3.88e-18)		TTCAGAGTTCATTTTAGCTTC	0.333												
GALNT10	55568	broad.mit.edu	37	5	153674402	153674403	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr5:153674402_153674403insT	uc003lvh.2	+	2	318_319	c.186_187insT	c.(184-189)ACGTTTfs	p.T62fs	GALNT10_uc003lvg.1_Frame_Shift_Ins_p.T62fs|GALNT10_uc010jic.2_RNA	NM_198321	NP_938080	Q86SR1	GLT10_HUMAN	GalNAc transferase 10 isoform a	62_63	Lumenal (Potential).					Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			skin(2)	2	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)|all_hematologic(541;0.21)	Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577)			AAAAGAAAACGTTTTTCTTGGG	0.495												
NSD1	64324	broad.mit.edu	37	5	176673750	176673750	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr5:176673750delA	uc003mfr.3	+	10	4588	c.4450delA	c.(4450-4452)AAAfs	p.K1484fs	NSD1_uc003mft.3_Frame_Shift_Del_p.K1215fs|NSD1_uc003mfs.1_Frame_Shift_Del_p.K1381fs|NSD1_uc011dfx.1_Frame_Shift_Del_p.K1132fs	NM_022455	NP_071900	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	1484					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			ovary(2)|kidney(1)	3	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	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;0.198)	Kidney(146;0.235)		GATGCAGTGTAAAAAAGTGAA	0.418			T	NUP98	AML		Sotos Syndrome		Beckwith-Wiedemann_syndrome|Sotos_syndrome|Weaver_syndrome	HNSCC(47;0.14)		
DBN1	1627	broad.mit.edu	37	5	176885163	176885163	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr5:176885163delG	uc003mgy.2	-	12	1844	c.1672delC	c.(1672-1674)CAGfs	p.Q558fs	DBN1_uc011dga.1_Frame_Shift_Del_p.Q290fs|DBN1_uc003mgx.2_Frame_Shift_Del_p.Q560fs|DBN1_uc010jkn.1_Frame_Shift_Del_p.Q508fs|DBN1_uc003mgz.1_Frame_Shift_Del_p.Q541fs	NM_004395	NP_004386	Q16643	DREB_HUMAN	drebrin 1 isoform a	558					actin filament organization|regulation of dendrite development|regulation of neuronal synaptic plasticity	actomyosin|cytoplasm|dendrite	actin binding|profilin binding			breast(3)|ovary(1)|lung(1)|skin(1)	6	all_cancers(89;2.17e-05)|Renal(175;0.000269)|Lung NSC(126;0.0014)|all_lung(126;0.0025)	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)			GTTGGGGTCTGGGGGGCAGCC	0.637												
CNOT6	57472	broad.mit.edu	37	5	179994114	179994114	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr5:179994114delT	uc003mlx.2	+	8	1093	c.744delT	c.(742-744)AGTfs	p.S248fs	CNOT6_uc010jld.2_Frame_Shift_Del_p.S248fs|CNOT6_uc010jle.2_Frame_Shift_Del_p.S243fs	NM_015455	NP_056270	Q9ULM6	CNOT6_HUMAN	CCR4-NOT transcription complex, subunit 6	248					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	exonuclease activity|metal ion binding|protein binding|RNA binding				0	all_cancers(89;3.3e-05)|all_epithelial(37;7.38e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00543)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	OV - Ovarian serous cystadenocarcinoma(192;0.023)		AGTATTACAGTTTTTTTCTGG	0.348												
JARID2	3720	broad.mit.edu	37	6	15508639	15508639	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr6:15508639delC	uc003nbj.2	+	12	3044	c.2800delC	c.(2800-2802)CACfs	p.H934fs	JARID2_uc011div.1_Frame_Shift_Del_p.H762fs|JARID2_uc011diw.1_Frame_Shift_Del_p.H896fs	NM_004973	NP_004964	Q92833	JARD2_HUMAN	jumonji, AT rich interactive domain 2 protein	934	JmjC.				central nervous system development|chromatin modification|negative regulation of histone methylation|positive regulation of histone H3-K9 methylation|stem cell differentiation|transcription, DNA-dependent		chromatin binding			ovary(2)|lung(1)|pancreas(1)	4	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)				AGACCAAAATCACCTTCCATA	0.458												
TAP2	6891	broad.mit.edu	37	6	32805788	32805788	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr6:32805788delG	uc003occ.2	-	1	254	c.223delC	c.(223-225)CTGfs	p.L75fs	TAP2_uc011dqf.1_Frame_Shift_Del_p.L75fs|TAP2_uc003ocb.1_Frame_Shift_Del_p.L75fs|TAP2_uc003ocd.2_Frame_Shift_Del_p.L75fs	NM_018833	NP_061313	Q03519	TAP2_HUMAN	transporter 2, ATP-binding cassette, sub-family	75	Helical; Name=2; (Potential).				antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent|cytosol to ER transport|intracellular transport of viral proteins in host cell|peptide antigen transport|positive regulation of antigen processing and presentation of peptide antigen via MHC class I|positive regulation of T cell mediated cytotoxicity	nucleus|plasma membrane|TAP complex	ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|peptide antigen-transporting ATPase activity|TAP1 binding|TAP2 binding|tapasin binding				0						GAGACAGTCAGGGGGGTGGCC	0.692												
DNAH8	1769	broad.mit.edu	37	6	38885823	38885824	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr6:38885823_38885824insA	uc003ooe.1	+	68	10380_10381	c.9780_9781insA	c.(9778-9783)GCCAAAfs	p.A3260fs	uc003oof.1_Intron	NM_001371	NP_001362			dynein, axonemal, heavy polypeptide 8											skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	21						TTGAAAGTGCCAAAAAAGTCTG	0.396												
C6orf223	221416	broad.mit.edu	37	6	43969836	43969836	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr6:43969836delC	uc003own.2	+	3	273	c.255delC	c.(253-255)CACfs	p.H85fs	uc003owm.1_Intron|C6orf223_uc003owo.2_Frame_Shift_Del_p.H65fs	NM_153246	NP_694978	Q8N319	CF223_HUMAN	hypothetical protein LOC221416	85											0	all_cancers(18;2.28e-07)|all_epithelial(2;1.62e-08)|Lung NSC(15;0.000172)|all_lung(25;0.000533)|Hepatocellular(11;0.00309)|Ovarian(13;0.0437)		all cancers(41;0.00141)|Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.217)			AGAGAGGACACCCCCTCCACC	0.438												
C6orf138	442213	broad.mit.edu	37	6	47846151	47846151	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr6:47846151delA	uc011dwm.1	-	3	2463	c.2378delT	c.(2377-2379)TTCfs	p.F793fs	C6orf138_uc011dwn.1_Frame_Shift_Del_p.F557fs	NM_001013732	NP_001013754	Q6ZW05	CF138_HUMAN	hypothetical protein LOC442213	810						integral to membrane	hedgehog receptor activity			central_nervous_system(1)	1						GGAAGGGGGGAAAAACGTTAG	0.453												
BEND3	57673	broad.mit.edu	37	6	107391602	107391602	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr6:107391602delC	uc003prs.2	-	5	1443	c.793delG	c.(793-795)GACfs	p.D265fs		NM_001080450	NP_001073919	Q5T5X7	BEND3_HUMAN	BEN domain containing 3	265	BEN 1.									ovary(3)	3						CAGGCCAGGTCCCCCCCTGAC	0.652												
MYB	4602	broad.mit.edu	37	6	135520107	135520107	+	Frame_Shift_Del	DEL	C	C	-	rs66549477		TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr6:135520107delC	uc003qfc.2	+	10	1464	c.1265delC	c.(1264-1266)ACCfs	p.T422fs	MYB_uc003qfh.2_Frame_Shift_Del_p.T543fs|MYB_uc003qfi.2_Frame_Shift_Del_p.T527fs|MYB_uc010kgi.2_Frame_Shift_Del_p.T422fs|MYB_uc003qfq.2_Frame_Shift_Del_p.T540fs|MYB_uc010kgj.2_Frame_Shift_Del_p.T387fs|MYB_uc003qfo.2_Frame_Shift_Del_p.T337fs|MYB_uc003qfu.2_Frame_Shift_Del_p.T419fs|MYB_uc003qfl.2_RNA|MYB_uc003qfv.2_RNA|MYB_uc003qfz.2_RNA|MYB_uc003qfx.2_RNA|MYB_uc003qga.2_RNA|MYB_uc003qgb.2_RNA|MYB_uc010kgk.2_RNA|MYB_uc003qfd.2_RNA|MYB_uc003qfe.2_RNA|MYB_uc003qfg.2_RNA|MYB_uc003qff.2_RNA|MYB_uc003qfj.2_RNA|MYB_uc003qfm.2_RNA|MYB_uc003qfp.2_RNA|MYB_uc003qfn.2_RNA|MYB_uc003qfk.2_RNA|MYB_uc003qfr.2_RNA|MYB_uc003qfs.2_Frame_Shift_Del_p.T48fs|MYB_uc003qft.2_RNA|MYB_uc003qfw.2_Frame_Shift_Del_p.T234fs|MYB_uc003qfy.2_RNA|MYB_uc003qgc.2_RNA|MYB_uc003qfb.1_Frame_Shift_Del_p.T422fs	NM_005375	NP_005366	P10242	MYB_HUMAN	v-myb myeloblastosis viral oncogene homolog	422	Negative regulatory domain (By similarity).				blood coagulation|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of histone H3-K4 methylation|positive regulation of histone H3-K9 methylation|positive regulation of T-helper cell differentiation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear matrix	DNA binding|protein binding			lung(1)	1	all_epithelial(2;0.109)|Breast(56;0.158)|Colorectal(23;0.221)	Lung NSC(302;3.08e-05)|Ovarian(999;0.208)		OV - Ovarian serous cystadenocarcinoma(155;0.0079)|GBM - Glioblastoma multiforme(68;0.0117)		TTAACTTCCACCCCCCTCATT	0.363			T	NFIB	adenoid cystic carcinoma							
CITED2	10370	broad.mit.edu	37	6	139694831	139694831	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr6:139694831delG	uc003qip.1	-	2	495	c.251delC	c.(250-252)CCGfs	p.P84fs		NM_006079	NP_006070	Q99967	CITE2_HUMAN	Cbp/p300-interacting transactivator, with	84					adrenal cortex formation|anti-apoptosis|cell proliferation|determination of left/right symmetry|heart development|liver development|negative regulation of cell migration|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cell cycle|positive regulation of cell-cell adhesion|positive regulation of male gonad development|positive regulation of peroxisome proliferator activated receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of organ formation|response to estrogen stimulus|response to fluid shear stress|response to hypoxia|sex determination	cytoplasm|nuclear chromatin|nucleus	chromatin binding|LBD domain binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity				0	Breast(32;0.226)			GBM - Glioblastoma multiforme(68;0.000171)|OV - Ovarian serous cystadenocarcinoma(155;0.00134)		CAGCGCGCTCGGGGGGTGCCC	0.682												
SASH1	23328	broad.mit.edu	37	6	148865376	148865376	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr6:148865376delC	uc003qme.1	+	18	3245	c.2770delC	c.(2770-2772)CCCfs	p.P924fs	SASH1_uc011eeb.1_Frame_Shift_Del_p.P685fs|SASH1_uc003qmf.1_Frame_Shift_Del_p.P334fs	NM_015278	NP_056093	O94885	SASH1_HUMAN	SAM and SH3 domain containing 1	924							protein binding			central_nervous_system(1)	1		Ovarian(120;0.0169)		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)		CGGCCTGTCACCCCCTCAGTG	0.517												
ITGB8	3696	broad.mit.edu	37	7	20449395	20449395	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr7:20449395delA	uc003suu.2	+	13	2886	c.2181delA	c.(2179-2181)TCAfs	p.S727fs	ITGB8_uc011jyh.1_Frame_Shift_Del_p.S592fs	NM_002214	NP_002205	P26012	ITB8_HUMAN	integrin, beta 8 precursor	727	Cytoplasmic (Potential).				cell-matrix adhesion|integrin-mediated signaling pathway|placenta blood vessel development	integrin complex	protein binding|receptor activity			skin(3)	3						TGTCAGCCTCAAAAAAGGTCA	0.318												
HOXA2	3199	broad.mit.edu	37	7	27140390	27140390	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr7:27140390delA	uc003syh.2	-	2	1361	c.1086delT	c.(1084-1086)TTTfs	p.F362fs		NM_006735	NP_006726	O43364	HXA2_HUMAN	homeobox A2	362						nucleus	sequence-specific DNA binding transcription factor activity			ovary(1)|skin(1)	2						GTGTGTCTGTAAAAAAGTCTA	0.438												
OGDH	4967	broad.mit.edu	37	7	44747227	44747228	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr7:44747227_44747228insC	uc003tln.2	+	22	2952_2953	c.2843_2844insC	c.(2842-2844)TACfs	p.Y948fs	OGDH_uc011kbx.1_Frame_Shift_Ins_p.Y944fs|OGDH_uc011kby.1_Frame_Shift_Ins_p.Y798fs|OGDH_uc003tlp.2_Frame_Shift_Ins_p.Y959fs|OGDH_uc011kbz.1_Frame_Shift_Ins_p.Y743fs	NM_002541	NP_002532	Q02218	ODO1_HUMAN	oxoglutarate dehydrogenase isoform 1 precursor	948					glycolysis|lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|mitochondrial membrane	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			upper_aerodigestive_tract(1)|ovary(1)	2					NADH(DB00157)	GTGCAGAAGTACCCCAATGCTG	0.564												
POM121	9883	broad.mit.edu	37	7	72397426	72397427	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr7:72397426_72397427insC	uc003twk.2	+	3	947_948	c.947_948insC	c.(946-948)CTCfs	p.L316fs	POM121_uc003twj.2_Frame_Shift_Ins_p.L51fs|POM121_uc010lam.1_Frame_Shift_Ins_p.L51fs	NM_172020	NP_742017	Q96HA1	P121A_HUMAN	nuclear pore membrane protein 121	316	Pore side (Potential).				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore					0		Lung NSC(55;0.163)				CTGAGTGCCCTCAAAGAGAAGG	0.460												
PCLO	27445	broad.mit.edu	37	7	82582694	82582694	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr7:82582694delT	uc003uhx.2	-	5	7864	c.7575delA	c.(7573-7575)AAAfs	p.K2525fs	PCLO_uc003uhv.2_Frame_Shift_Del_p.K2525fs|PCLO_uc010lec.2_5'Flank	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	piccolo isoform 1	2456	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						TATCTGTTGGTTTTTGTGTAG	0.433												
PCLO	27445	broad.mit.edu	37	7	82585204	82585204	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr7:82585204delT	uc003uhx.2	-	5	5354	c.5065delA	c.(5065-5067)ACAfs	p.T1689fs	PCLO_uc003uhv.2_Frame_Shift_Del_p.T1689fs	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	piccolo isoform 1	1620					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			ovary(7)	7						TACAAACTTGTTTTTTTCTGT	0.428												
AP4M1	9179	broad.mit.edu	37	7	99701731	99701731	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr7:99701731delT	uc003utb.3	+	7	768	c.560delT	c.(559-561)GTTfs	p.V187fs	MCM7_uc003usw.1_5'Flank|MCM7_uc003usx.1_5'Flank|AP4M1_uc011kjg.1_Frame_Shift_Del_p.V141fs|AP4M1_uc010lgl.1_Frame_Shift_Del_p.V187fs|AP4M1_uc003utc.3_Frame_Shift_Del_p.V194fs|AP4M1_uc010lgm.2_Frame_Shift_Del_p.V59fs|AP4M1_uc003utd.2_Frame_Shift_Del_p.V187fs|AP4M1_uc011kjh.1_Frame_Shift_Del_p.V139fs|AP4M1_uc003ute.3_5'UTR|AP4M1_uc003utf.3_Frame_Shift_Del_p.V59fs	NM_004722	NP_004713	O00189	AP4M1_HUMAN	adaptor-related protein complex 4, mu 1 subunit	187	MHD.				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)					AAGAATGAAGTTTTTTTGGAT	0.438												
NUP205	23165	broad.mit.edu	37	7	135287555	135287555	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr7:135287555delA	uc003vsw.2	+	18	2546	c.2515delA	c.(2515-2517)AAAfs	p.K839fs		NM_015135	NP_055950	Q92621	NU205_HUMAN	nucleoporin 205kDa	839					carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			ovary(3)|breast(1)|central_nervous_system(1)|skin(1)	6						GTTGATAGGGAAAAAACACCT	0.328												
MLL3	58508	broad.mit.edu	37	7	151945528	151945530	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr7:151945528_151945530delTGC	uc003wla.2	-	14	2208_2210	c.1989_1991delGCA	c.(1987-1992)CAGCAA>CAA	p.663_664QQ>Q		NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 3	663_664	Potential.				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)		CAGTTGTTCTTGCTGCACAGTGA	0.404			N		medulloblastoma							
KIF13B	23303	broad.mit.edu	37	8	28929788	28929788	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr8:28929788delC	uc003xhh.3	-	39	4626	c.4567delG	c.(4567-4569)GCCfs	p.A1523fs	KIF13B_uc011laz.1_Frame_Shift_Del_p.A42fs	NM_015254	NP_056069	Q9NQT8	KI13B_HUMAN	kinesin family member 13B	1523					microtubule-based movement|protein targeting|signal transduction|T cell activation	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein kinase binding				0		Ovarian(32;0.000536)		KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)		AAGGCCGGGGCCCCCATCGTC	0.637												
CHD7	55636	broad.mit.edu	37	8	61778454	61778454	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr8:61778454delG	uc003xue.2	+	38	9433	c.8956delG	c.(8956-8958)GGGfs	p.G2986fs		NM_017780	NP_060250	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	2986					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)			CTCACTTGATGGGGGGGATGA	0.443												
RRS1	23212	broad.mit.edu	37	8	67341501	67341501	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr8:67341501delC	uc003xwa.2	+	1	239	c.135delC	c.(133-135)AACfs	p.N45fs		NM_015169	NP_055984	Q15050	RRS1_HUMAN	homolog of yeast ribosome biogenesis regulatory	45					mitotic metaphase plate congression|ribosome biogenesis	condensed nuclear chromosome|nucleolus					0		Lung NSC(129;0.197)	Epithelial(68;0.0391)|all cancers(69;0.0898)|BRCA - Breast invasive adenocarcinoma(89;0.111)|OV - Ovarian serous cystadenocarcinoma(28;0.226)			CGGACCGGAACCCCCCGACCG	0.672											OREG0018806	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
MPDZ	8777	broad.mit.edu	37	9	13125277	13125277	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr9:13125277delT	uc010mia.1	-	34	4802	c.4745delA	c.(4744-4746)AAGfs	p.K1582fs	MPDZ_uc003zky.3_Frame_Shift_Del_p.K144fs|MPDZ_uc010mib.2_Frame_Shift_Del_p.K287fs|MPDZ_uc010mhx.2_Frame_Shift_Del_p.K404fs|MPDZ_uc011lmm.1_Frame_Shift_Del_p.K441fs|MPDZ_uc003zkz.3_Frame_Shift_Del_p.K275fs|MPDZ_uc010mhy.2_Frame_Shift_Del_p.K1582fs|MPDZ_uc010mhz.2_Frame_Shift_Del_p.K1549fs|MPDZ_uc011lmn.1_Frame_Shift_Del_p.K1549fs|MPDZ_uc003zlb.3_Frame_Shift_Del_p.K1582fs	NM_003829	NP_003820	O75970	MPDZ_HUMAN	multiple PDZ domain protein	1582					interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding			ovary(5)|central_nervous_system(1)	6				GBM - Glioblastoma multiforme(50;2.03e-06)		GGAGCTGTTCTTTTTTTCTCC	0.517												
FAM122A	116224	broad.mit.edu	37	9	71395787	71395788	+	Frame_Shift_Del	DEL	GT	GT	-			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr9:71395787_71395788delGT	uc004agw.1	+	1	824_825	c.707_708delGT	c.(706-708)GGTfs	p.G236fs	PIP5K1B_uc004agu.2_Intron|PIP5K1B_uc011lrq.1_Intron|PIP5K1B_uc004agv.2_Intron	NM_138333	NP_612206	Q96E09	F122A_HUMAN	hypothetical protein LOC116224	236											0						TCAGATCCTGGTGTGTGTGTAT	0.460												
VPS13A	23230	broad.mit.edu	37	9	79897181	79897181	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr9:79897181delA	uc004akr.2	+	29	3369	c.3109delA	c.(3109-3111)AAAfs	p.K1037fs	VPS13A_uc004akp.3_Frame_Shift_Del_p.K1037fs|VPS13A_uc004akq.3_Frame_Shift_Del_p.K1037fs|VPS13A_uc004aks.2_Frame_Shift_Del_p.K1037fs	NM_033305	NP_150648	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13A isoform A	1037					Golgi to endosome transport|protein transport	intracellular	protein binding			pancreas(3)|skin(3)|ovary(2)|large_intestine(1)|central_nervous_system(1)	10						AGATGTCATTAAAAAATTAGG	0.299												
COL15A1	1306	broad.mit.edu	37	9	101806909	101806909	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr9:101806909delG	uc004azb.1	+	25	2840	c.2634delG	c.(2632-2634)ATGfs	p.M878fs		NM_001855	NP_001846	P39059	COFA1_HUMAN	alpha 1 type XV collagen precursor	878	Nonhelical region 5 (NC5).				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding			ovary(6)	6		Acute lymphoblastic leukemia(62;0.0562)				AAAGGCTGATGGGGAAAAAGG	0.493												
KIAA0649	9858	broad.mit.edu	37	9	138378961	138378961	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr9:138378961delG	uc004cfr.1	+	4	3154	c.2605delG	c.(2605-2607)GGGfs	p.G869fs		NM_014811	NP_055626	Q5T8A7	K0649_HUMAN	1A6/DRIM (down-regulated in metastasis)	869						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)		TCTTGGGACAGGGGGCCCAGC	0.637												
GRIN1	2902	broad.mit.edu	37	9	140036496	140036496	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr9:140036496delC	uc004clk.2	+	2	620	c.290delC	c.(289-291)ACCfs	p.T97fs	GRIN1_uc004cli.1_5'UTR|GRIN1_uc004clj.1_Frame_Shift_Del_p.T94fs|GRIN1_uc004cll.2_Frame_Shift_Del_p.T97fs|GRIN1_uc004clm.2_Frame_Shift_Del_p.T97fs|GRIN1_uc004cln.2_Frame_Shift_Del_p.T94fs|GRIN1_uc004clo.2_Frame_Shift_Del_p.T94fs	NM_007327	NP_015566	Q05586	NMDZ1_HUMAN	NMDA receptor 1 isoform NR1-3 precursor	97	Extracellular (Potential).				ionotropic glutamate receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|regulation of excitatory postsynaptic membrane potential|response to ethanol|visual learning	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane|synaptic vesicle|synaptosome	calcium ion binding|calmodulin binding|extracellular-glutamate-gated ion channel activity|glutamate binding|glycine binding			skin(1)	1	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;6.87e-05)|Epithelial(140;0.00095)	L-Glutamic Acid(DB00142)|Orphenadrine(DB01173)	CATCCACCTACCCCCAACGAC	0.592												
RNF208	727800	broad.mit.edu	37	9	140115502	140115502	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr9:140115502delG	uc004clz.1	-	1	274	c.163delC	c.(163-165)CGGfs	p.R55fs		NM_031297	NP_112587	Q9H0X6	RN208_HUMAN	ring finger protein 208	55							zinc ion binding				0	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)		GGGGTGGGCCGGGGAGCAGGC	0.627												
NOXA1	10811	broad.mit.edu	37	9	140327669	140327670	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr9:140327669_140327670insG	uc004cmv.2	+	10	998_999	c.863_864insG	c.(862-864)ATGfs	p.M288fs	C9orf167_uc011mew.1_Intron|NOXA1_uc004cmu.2_Frame_Shift_Ins_p.M288fs|NOXA1_uc010nch.2_Frame_Shift_Ins_p.M232fs	NM_006647	NP_006638	Q86UR1	NOXA1_HUMAN	NADPH oxidase activator 1	288			Missing (in NOXA1truncated, a cDNA isolated from Caco-2 cells treated with butyrate).		regulation of hydrogen peroxide metabolic process|regulation of respiratory burst|superoxide metabolic process	cytoplasm|NADPH oxidase complex	Rac GTPase binding|superoxide-generating NADPH oxidase activator activity				0	all_cancers(76;0.0926)			OV - Ovarian serous cystadenocarcinoma(145;0.000238)|Epithelial(140;0.000982)		CTGCCGGCAATGGGGGGGCCTG	0.668												
RAI2	10742	broad.mit.edu	37	X	17819461	17819461	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chrX:17819461delG	uc004cyf.2	-	3	1240	c.670delC	c.(670-672)CTGfs	p.L224fs	RAI2_uc004cyg.2_Frame_Shift_Del_p.L224fs|RAI2_uc010nfa.2_Frame_Shift_Del_p.L224fs|RAI2_uc004cyh.3_Frame_Shift_Del_p.L224fs|RAI2_uc011miy.1_Frame_Shift_Del_p.L174fs	NM_021785	NP_068557	Q9Y5P3	RAI2_HUMAN	retinoic acid induced 2	224	Pro-rich.				embryo development					ovary(1)|breast(1)	2	Hepatocellular(33;0.183)					GGTGGGACCAGGGGGGACAAG	0.627												
DMD	1756	broad.mit.edu	37	X	31222117	31222118	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chrX:31222117_31222118insC	uc004dda.1	-	67	10011_10012	c.9767_9768insG	c.(9766-9768)GGCfs	p.G3256fs	DMD_uc004dcq.1_Frame_Shift_Ins_p.G527fs|DMD_uc004dcr.1_Frame_Shift_Ins_p.G796fs|DMD_uc004dcs.1_Frame_Shift_Ins_p.G796fs|DMD_uc004dct.1_Frame_Shift_Ins_p.G796fs|DMD_uc004dcu.1_Frame_Shift_Ins_p.G796fs|DMD_uc004dcv.1_Frame_Shift_Ins_p.G796fs|DMD_uc004dcw.2_Frame_Shift_Ins_p.G1912fs|DMD_uc004dcx.2_Frame_Shift_Ins_p.G1915fs|DMD_uc004dcz.2_Frame_Shift_Ins_p.G3133fs|DMD_uc004dcy.1_Frame_Shift_Ins_p.G3252fs|DMD_uc004ddb.1_Frame_Shift_Ins_p.G3248fs|DMD_uc004dcm.1_Frame_Shift_Ins_p.G188fs|DMD_uc004dcn.1_Frame_Shift_Ins_p.G188fs|DMD_uc004dco.1_Frame_Shift_Ins_p.G188fs|DMD_uc004dcp.1_Frame_Shift_Ins_p.G188fs|DMD_uc011mkb.1_Frame_Shift_Ins_p.G188fs|DMD_uc010ngm.2_Frame_Shift_Ins_p.G188fs	NM_004006	NP_003997	P11532	DMD_HUMAN	dystrophin Dp427m isoform	3256	Interaction with SYNM (By similarity).				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			ovary(3)|pancreas(2)|large_intestine(1)	6		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				CAATGTTACTGCCCCCAAAGGA	0.406												
STAG2	10735	broad.mit.edu	37	X	123179073	123179073	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chrX:123179073delT	uc004etz.3	+	7	861	c.522delT	c.(520-522)AGTfs	p.S174fs	STAG2_uc004eua.2_Frame_Shift_Del_p.S174fs|STAG2_uc004eub.2_Frame_Shift_Del_p.S174fs|STAG2_uc004euc.2_Frame_Shift_Del_p.S174fs|STAG2_uc004eud.2_Frame_Shift_Del_p.S174fs|STAG2_uc004eue.2_Frame_Shift_Del_p.S174fs	NM_006603	NP_006594	Q8N3U4	STAG2_HUMAN	stromal antigen 2 isoform b	174					cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding			ovary(4)|skin(1)	5						TCAAATCCAGTTTTTGTGAAT	0.343												
ARHGEF6	9459	broad.mit.edu	37	X	135764121	135764121	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chrX:135764121delT	uc004fab.2	-	14	1948	c.1486delA	c.(1486-1488)ATAfs	p.I496fs	ARHGEF6_uc011mwd.1_Frame_Shift_Del_p.I369fs|ARHGEF6_uc011mwe.1_Frame_Shift_Del_p.I342fs	NM_004840	NP_004831	Q15052	ARHG6_HUMAN	Rac/Cdc42 guanine nucleotide exchange factor 6	496	PH.				apoptosis|cell junction assembly|induction of apoptosis by extracellular signals|JNK cascade|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity				0	Acute lymphoblastic leukemia(192;0.000127)					GCTATTGGTATTTTTCCCTAT	0.353												
F8	2157	broad.mit.edu	37	X	154091467	154091467	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chrX:154091467delT	uc004fmt.2	-	23	6636	c.6465delA	c.(6463-6465)AAAfs	p.K2155fs	F8_uc004fms.2_Frame_Shift_Del_p.K20fs	NM_000132	NP_000123	P00451	FA8_HUMAN	coagulation factor VIII isoform a precursor	2155	F5/8 type C 1.				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			ovary(5)|large_intestine(2)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	11	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	AAATATTGTGTTTTATCCCAG	0.398												
AJAP1	55966	broad.mit.edu	37	1	4829992	4829993	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr1:4829991_4829992T>TA	uc001alm.1	+	2	1289_1290	c.908_909T>TA	c.(907-909)ttafs	p.L303fs	AJAP1_uc001aln.3_Frame_Shift_Ins_p.L303fs	NM_001042478	NP_061324	Q9UKB5	AJAP1_HUMAN	Homo sapiens adherens junctions associated protein 1 (AJAP1), transcript variant 2, mRNA.	303	Targeting signals.				cell adhesion	adherens junction|apical plasma membrane|basolateral plasma membrane|integral to membrane				endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	24	all_cancers(77;0.071)|Ovarian(185;0.0721)	all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215)		Epithelial(90;3.89e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.97e-19)|GBM - Glioblastoma multiforme(42;3.71e-19)|Colorectal(212;4.57e-06)|COAD - Colon adenocarcinoma(227;0.00019)|Kidney(185;0.000969)|BRCA - Breast invasive adenocarcinoma(365;0.00122)|STAD - Stomach adenocarcinoma(132;0.00578)|KIRC - Kidney renal clear cell carcinoma(229;0.0126)|READ - Rectum adenocarcinoma(331;0.0689)		ACTCTTGTCTTAAAAAATTGGT	0.510												
CASZ1	54897	broad.mit.edu	37	1	10719759	10719760	+	Splice_Site	INS	-	-	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr1:10719758_10719759C>CT	uc001aro.3	-	6	1660	c.1340_splice	c.e6+1	p.K447_splice	CASZ1_uc001arp.1_Splice_Site_p.K447_splice|CASZ1_uc009vmx.2_Splice_Site_p.K471_splice|CASZ1_uc001arq.1_Splice_Site_p.K306_splice	NM_001079843	NP_001073312	Q86V15	CASZ1_HUMAN	Homo sapiens castor zinc finger 1 (CASZ1), transcript variant 1, mRNA.	447					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		GAGCGCCTTACTTGACAGTGGA	0.604												
CSMD2	114784	broad.mit.edu	37	1	34166229	34166229	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr1:34166228_34166228TA>T	uc001bxm.1	-	22	3799	c.3622_3622TA>A	c.(3622-3624)agcfs	p.S1208fs	CSMD2_uc001bxn.1_Frame_Shift_Del_p.S1168fs|CSMD2_uc001bxo.1_Frame_Shift_Del_p.S81fs	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	1168						integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				TCAGAATGGCTAAAAACTCCC	0.493												
ZC3H12A	80149	broad.mit.edu	37	1	37948445	37948445	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr1:37948444_37948444AC>A	uc001cbb.4	+	5	1182	c.1032_1032AC>A	c.(1030-1032)tcafs	p.S344fs	ZC3H12A_uc001cbc.1_Frame_Shift_Del_p.S139fs	NM_025079	NP_079355	Q5D1E8	ZC12A_HUMAN	Homo sapiens zinc finger CCCH-type containing 12A (ZC3H12A), mRNA.	344					angiogenesis|apoptosis|cell differentiation	cytoplasm|nucleus|plasma membrane	endonuclease activity|metal ion binding	p.S344P(1)		NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CTCTCCTCTCACCCCCCAGAG	0.597												
PRKAA2	5563	broad.mit.edu	37	1	57173341	57173341	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr1:57173340_57173340AT>A	uc001cyk.4	+	8	1684	c.1613_1613AT>A	c.(1612-1614)gatfs	p.D538fs		NM_006252	NP_006243	P54646	AAPK2_HUMAN	Homo sapiens protein kinase, AMP-activated, alpha 2 catalytic subunit (PRKAA2), mRNA.	538					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	p.E541fs*1(2)		breast(6)|endometrium(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|stomach(1)	23						CACACCATGGATTTTTTTGAA	0.423												
ARNT	405	broad.mit.edu	37	1	150789283	150789283	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr1:150789282_150789282CG>C	uc001evr.2	-	17	1985	c.1784_1784CG>G	c.(1783-1785)cggfs	p.R595fs	ARNT_uc010pck.2_Frame_Shift_Del_p.R84fs|ARNT_uc001evs.2_Frame_Shift_Del_p.R580fs|ARNT_uc009wmd.2_Frame_Shift_Del_p.R580fs|ARNT_uc009wmb.2_Frame_Shift_Del_p.R581fs|ARNT_uc009wmc.2_Frame_Shift_Del_p.R595fs	NM_001668	NP_001659	P27540	ARNT_HUMAN	Homo sapiens aryl hydrocarbon receptor nuclear translocator (ARNT), transcript variant 1, mRNA.	595					positive regulation of hormone biosynthetic process|positive regulation vascular endothelial growth factor production|regulation of transcription from RNA polymerase II promoter in response to oxidative stress|response to hypoxia		aryl hydrocarbon receptor binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|prostate(2)|skin(4)|stomach(1)	34	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.02)|BRCA - Breast invasive adenocarcinoma(12;0.00606)|LUSC - Lung squamous cell carcinoma(543;0.211)			CTCTGCCGGCCGGGGGGTAGG	0.522			T	ETV6	AML							
CGN	57530	broad.mit.edu	37	1	151502544	151502545	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr1:151502543_151502544T>TG	uc009wmw.3	+	11	2409_2410	c.2265_2266T>TG	c.(2263-2268)ggtgggfs	p.G755fs		NM_020770	NP_065821	Q9P2M7	CING_HUMAN	Homo sapiens cingulin (CGN), mRNA.	749	Glu-rich.					myosin complex|tight junction	actin binding|motor activity			NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			TGGTGGATGGTGGGGAAGCGGT	0.619												
SLC27A3	11000	broad.mit.edu	37	1	153751860	153751860	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr1:153751859_153751859TC>T	uc001fcz.3	+	8	1991	c.1926_1926TC>T	c.(1924-1926)cgtfs	p.R642fs	SLC27A3_uc009won.3_Non-coding_Transcript	NM_024330	NP_077306	Q5K4L6	S27A3_HUMAN	Homo sapiens solute carrier family 27 (fatty acid transporter), member 3 (SLC27A3), mRNA.	642					fatty acid metabolic process	integral to membrane|mitochondrial membrane	ligase activity|nucleotide binding			NS(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	14	all_lung(78;6.47e-32)|Lung NSC(65;2.52e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			TAGTTCTGCGTCCCCCCCACG	0.622												
BCAN	63827	broad.mit.edu	37	1	156627543	156627543	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr1:156627542_156627542TC>T	uc001fpp.3	+	10	2621	c.2285_2285TC>T	c.(2284-2286)gtcfs	p.V762fs		NM_021948	NP_068767	Q96GW7	PGCB_HUMAN	Homo sapiens brevican (BCAN), transcript variant 1, mRNA.	762	C-type lectin.				cell adhesion	anchored to membrane|proteinaceous extracellular matrix	hyaluronic acid binding|sugar binding			cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	55	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TCGGATGGCGTCCCCCTGGTG	0.622											OREG0013880	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
PIGC	5279	broad.mit.edu	37	1	172411516	172411516	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr1:172411515_172411515TG>T	uc021pey.1	-	0	248	c.248_248CA>A	c.(247-249)catfs	p.H83fs	PIGC_uc001gii.1_Intron|C1orf105_uc001gik.3_Intron|PIGC_uc001gin.3_Frame_Shift_Del_p.H83fs|PIGC_uc001gio.3_Frame_Shift_Del_p.H83fs	NM_153747	NP_714969	Q92535	PIGC_HUMAN	Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class C (PIGC), transcript variant 1, mRNA.	83					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex|integral to membrane	phosphatidylinositol N-acetylglucosaminyltransferase activity			breast(1)|endometrium(1)|kidney(1)|lung(1)	4						TAAAAGCCAATGGGGGGCCAG	0.502												
CACNA1S	779	broad.mit.edu	37	1	201035447	201035447	+	Splice_Site	DEL	G	G	-			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr1:201035446_201035446TG>T	uc001gvv.3	-	21	2885	c.2658_splice	c.e21-1	p.E886_splice		NM_000069	NP_000060	Q13698	CAC1S_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1S subunit (CACNA1S), mRNA.	886					axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	GCACTGGACCTGGGGGGCGGC	0.647												
ITPKB	3707	broad.mit.edu	37	1	226923855	226923855	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr1:226923854_226923854GC>G	uc010pvo.2	-	1	1646	c.1306_1306GC>C	c.(1306-1308)cgtfs	p.R436fs	ITPKB_uc001hqh.3_Frame_Shift_Del_p.R436fs	NM_002221	NP_002212	P27987	IP3KB_HUMAN	Homo sapiens inositol-trisphosphate 3-kinase B (ITPKB), mRNA.	436							ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity	p.T435S(1)		central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(1)	30		Prostate(94;0.0773)				AGCTGCCAACGCCCCCCGCCC	0.721												
PCNXL2	80003	broad.mit.edu	37	1	233394590	233394591	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr1:233394589_233394590T>TC	uc001hvl.2	-	4	1253_1254	c.1018_1019A>GA	c.(1018-1020)gacfs	p.D340fs	PCNXL2_uc009xfu.3_Non-coding_Transcript|PCNXL2_uc009xfv.1_Non-coding_Transcript	NM_014801	NP_055616	A6NKB5	PCX2_HUMAN	Homo sapiens pecanex-like 2 (Drosophila) (PCNXL2), transcript variant 1, mRNA.	340						integral to membrane		p.D340N(2)		NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				CAAGGGCAGGTCCCCCTGGCAG	0.574												
ARID4B	51742	broad.mit.edu	37	1	235394506	235394507	+	Splice_Site	DEL	TA	TA	-			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr1:235394505_235394506CTA>C	uc021pks.1	-	10	1043	c.666_splice	c.e10-1	p.F222_splice	ARID4B_uc001hwq.3_Splice_Site_p.F222_splice|ARID4B_uc001hwr.3_Splice_Site_p.F222_splice|ARID4B_uc001hws.4_Splice_Site_p.F222_splice|ARID4B_uc001hwu.1_Splice_Site_p.F222_splice|ARID4B_uc001hwt.4_Splice_Site	NM_001206794	NP_001193723	Q4LE39	ARI4B_HUMAN	Homo sapiens AT rich interactive domain 4B (RBP1-like) (ARID4B), transcript variant 3, mRNA.	222					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding			NS(1)|breast(2)|large_intestine(2)|lung(1)|ovary(2)	8	Ovarian(103;0.0473)|Breast(184;0.23)	all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)			AACTGAAGTACtatatattttt	0.292												
RNF144A	9781	broad.mit.edu	37	2	7160688	7160689	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr2:7160687_7160688A>AC	uc002qys.3	+	5	827_828	c.385_386A>AC	c.(385-387)accfs	p.T129fs		NM_014746	NP_055561	P50876	R144A_HUMAN	Homo sapiens ring finger protein 144A (RNF144A), mRNA.	129						Golgi apparatus|integral to membrane	ligase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)	25	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)	all_cancers(51;0.226)		OV - Ovarian serous cystadenocarcinoma(76;0.195)		GGGGCTGCAGACCCCCCAGCCA	0.629												
SLC8A1	6546	broad.mit.edu	37	2	40401985	40401985	+	Splice_Site	DEL	A	A	-			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr2:40401984_40401984TA>T	uc002rrx.3	-	4	1961	c.1937_splice	c.e4-1	p.G646_splice	LOC100128590_uc002rrw.3_Intron|SLC8A1_uc002rry.3_Splice_Site_p.G646_splice|SLC8A1_uc002rsb.2_Splice_Site_p.G638_splice|SLC8A1_uc002rrz.3_Splice_Site_p.G638_splice|SLC8A1_uc002rsa.3_Splice_Site_p.G638_splice|SLC8A1_uc002rsd.4_Splice_Site_p.G638_splice	NM_021097	NP_066920	P32418	NAC1_HUMAN	Homo sapiens solute carrier family 8 (sodium/calcium exchanger), member 1 (SLC8A1), transcript variant A, mRNA.	646					cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding			NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	TGAAGCCACCTAAAAAAGAAA	0.333												
CCDC88A	55704	broad.mit.edu	37	2	55561925	55561926	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr2:55561924_55561925G>GT	uc002ryv.2	-	14	2874_2875	c.2032_2033C>AC	c.(2032-2034)acafs	p.T678fs	CCDC88A_uc010ypa.1_Frame_Shift_Ins_p.T678fs|CCDC88A_uc010yoz.1_Frame_Shift_Ins_p.T678fs|CCDC88A_uc010ypb.1_Frame_Shift_Ins_p.T580fs|CCDC88A_uc002ryu.2_5'UTR|CCDC88A_uc002ryw.3_5'UTR	NM_001135597	NP_001129069	Q3V6T2	GRDN_HUMAN	Homo sapiens coiled-coil domain containing 88A (CCDC88A), transcript variant 1, mRNA.	678					DNA replication|TOR signaling cascade|activation of protein kinase B activity|cell migration|cellular membrane organization|lamellipodium assembly|microtubule cytoskeleton organization|regulation of DNA replication|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of neuron projection development	Golgi apparatus|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|lamellipodium|plasma membrane	actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	69						GCTATCCAATGTTTTTTTTAAT	0.287												
EHBP1	23301	broad.mit.edu	37	2	63176205	63176206	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr2:63176204_63176205G>GA	uc002sby.3	+	13	2810_2811	c.2328_2329G>GA	c.(2326-2331)aagaaafs	p.K776fs	EHBP1_uc010fcp.3_Frame_Shift_Ins_p.K741fs|EHBP1_uc002sbz.3_Frame_Shift_Ins_p.K741fs|EHBP1_uc002scb.3_Frame_Shift_Ins_p.K741fs	NM_015252	NP_056067	Q8NDI1	EHBP1_HUMAN	Homo sapiens EH domain binding protein 1 (EHBP1), transcript variant 1, mRNA.	776						cytoplasm|membrane		p.K776K(2)		biliary_tract(1)|breast(3)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(22)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	47	Lung NSC(7;0.0951)|all_lung(7;0.169)		LUSC - Lung squamous cell carcinoma(7;7.74e-05)|Epithelial(17;0.189)			ACCTTGCTAAGAAAAAACATGC	0.376												
AFTPH	54812	broad.mit.edu	37	2	64779844	64779844	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr2:64779843_64779843TA>T	uc002sdc.3	+	0	1267	c.1235_1235TA>T	c.(1234-1236)gtafs	p.V412fs	AFTPH_uc002scz.3_Frame_Shift_Del_p.V412fs|AFTPH_uc002sda.3_Frame_Shift_Del_p.V412fs|AFTPH_uc002sdb.3_Frame_Shift_Del_p.V412fs	NM_203437	NP_982261	Q6ULP2	AFTIN_HUMAN	Homo sapiens aftiphilin (AFTPH), transcript variant 1, mRNA.	412					protein transport	AP-1 adaptor complex|cytosol|nucleus	clathrin binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	35						TCTTTAAGTGTAAAAAATGGT	0.363												
FBXO48	554251	broad.mit.edu	37	2	68692195	68692195	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr2:68692194_68692194AT>A	uc002seo.3	-	2	492	c.84_84AT>T	c.(82-84)aatfs	p.N28fs	APLF_uc010fdf.2_5'Flank|APLF_uc002sep.3_5'Flank	NM_001024680	NP_001019851	Q5FWF7	FBX48_HUMAN	Homo sapiens F-box protein 48 (FBXO48), mRNA.	28										endometrium(1)|large_intestine(1)|lung(1)|urinary_tract(1)	4						TTTGACTCTCATTTTTTTCCT	0.368												
ACTG2	72	broad.mit.edu	37	2	74128518	74128519	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr2:74128517_74128518G>GC	uc002sjw.3	+	1	201_202	c.79_80G>GC	c.(79-81)gccfs	p.A27fs	ACTG2_uc010fex.1_Frame_Shift_Ins_p.A27fs|ACTG2_uc010yrn.2_Frame_Shift_Ins_p.A27fs|ACTG2_uc010fey.3_Frame_Shift_Ins_p.A27fs	NM_001615	NP_001606	P63267	ACTH_HUMAN	Homo sapiens actin, gamma 2, smooth muscle, enteric (ACTG2), transcript variant 1, mRNA.	27					muscle contraction	cytoskeleton|cytosol	ATP binding			large_intestine(3)|lung(14)|skin(1)	18						AGGAGATGATGCCCCCCGGGCT	0.619												
TET3	200424	broad.mit.edu	37	2	74274090	74274090	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr2:74274089_74274089GA>G	uc002skb.4	+	0	640	c.640_640GA>G	c.(640-642)gaafs	p.E214fs	TET3_uc010fez.2_Frame_Shift_Del_p.E214fs	NM_144993	NP_659430	O43151	TET3_HUMAN	Homo sapiens tet methylcytosine dioxygenase 3 (TET3), mRNA.	214							metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CATTGCCAAGGAAAAAAACAT	0.612												
DQX1	165545	broad.mit.edu	37	2	74747155	74747156	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr2:74747154_74747155A>AG	uc010yrw.2	-	8	1667_1668	c.1502_1503T>CT	c.(1501-1503)cctfs	p.P501fs	DQX1_uc002smc.3_Frame_Shift_Ins_p.P62fs	NM_133637	NP_598376	Q8TE96	DQX1_HUMAN	Homo sapiens DEAQ box RNA-dependent ATPase 1 (DQX1), mRNA.	501						nucleus	ATP binding|helicase activity|nucleic acid binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	18						GGGTAAACCCAGGGGCAGCTGG	0.540												
UNC50	25972	broad.mit.edu	37	2	99232795	99232795	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr2:99232794_99232794CT>C	uc010yvl.2	+	3	811	c.577_577CT>C	c.(577-579)cttfs	p.L193fs	UNC50_uc002szc.4_Frame_Shift_Del_p.L176fs|UNC50_uc002szb.3_Frame_Shift_Del_p.L176fs	NM_014044	NP_054763	Q53HI1	UNC50_HUMAN	Homo sapiens unc-50 homolog (C. elegans) (UNC50), mRNA.	176					protein transport	Golgi membrane|integral to membrane|nuclear inner membrane	RNA binding			breast(1)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(1)	10						TTTTATCCAGCTTTTTTTCAT	0.413												
FAM168B	130074	broad.mit.edu	37	2	131812907	131812907	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr2:131812906_131812906AG>A	uc002tsd.3	-	4	643	c.414_414CT>T	c.(412-414)cctfs	p.P138fs		NM_001009993	NP_001009993	A1KXE4	F168B_HUMAN	Homo sapiens family with sequence similarity 168, member B (FAM168B), mRNA.	138										endometrium(3)|lung(2)	5						TGCCTCTAGGAGGGGGGATGG	0.622												
RIF1	55183	broad.mit.edu	37	2	152285379	152285379	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr2:152285378_152285378TA>T	uc002txm.3	+	8	1028	c.867_867TA>T	c.(865-867)attfs	p.I289fs	RIF1_uc010fnv.2_Frame_Shift_Del_p.I253fs|RIF1_uc002txn.3_Frame_Shift_Del_p.I289fs|RIF1_uc002txl.3_Frame_Shift_Del_p.I289fs|RIF1_uc002txo.3_Frame_Shift_Del_p.I289fs|RIF1_uc010zby.1_Non-coding_Transcript	NM_018151	NP_060621	Q5UIP0	RIF1_HUMAN	Homo sapiens RAP1 interacting factor homolog (yeast) (RIF1), transcript variant 1, mRNA.	289					cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding	p.M288I(1)		NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		CACCCATGATTAAAAAGATAG	0.318												
STAT1	6772	broad.mit.edu	37	2	191847230	191847232	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr2:191847229_191847231GGAA>G	uc010fse.2	-	16	1892_1894	c.1460_1462TTCC>C	c.(1459-1464)ttcctg>tCtg	p.487_488FL>S	STAT1_uc021vue.1_In_Frame_Del_p.299_300FL>S|STAT1_uc002usj.2_In_Frame_Del_p.487_488FL>S|STAT1_uc002usk.2_In_Frame_Del_p.487_488FL>S|STAT1_uc002usl.2_In_Frame_Del_p.489_490FL>S|STAT1_uc010fsf.1_In_Frame_Del_p.299_300FL>S	NM_007315	NP_009330	P42224	STAT1_HUMAN	Homo sapiens signal transducer and activator of transcription 1, 91kDa (STAT1), transcript variant alpha, mRNA.	487					I-kappaB kinase/NF-kappaB cascade|activation of caspase activity|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway|tyrosine phosphorylation of STAT protein	cytosol|nucleolus|nucleoplasm	RNA polymerase II core promoter sequence-specific DNA binding|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity|calcium ion binding|protein binding|signal transducer activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			OV - Ovarian serous cystadenocarcinoma(117;0.00434)|Epithelial(96;0.0555)|all cancers(119;0.141)		Fludarabine(DB01073)	GGTGGAGTCAGGAAGAAGGACAG	0.453												
TREX1	11277	broad.mit.edu	37	3	48508192	48508193	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr3:48508191_48508192G>GC	uc003ctj.3	+	1	1559_1560	c.302_303G>GC	c.(301-303)agcfs	p.S101fs	TREX1_uc010hjy.3_Frame_Shift_Ins_p.S46fs|TREX1_uc010hjz.3_Frame_Shift_Ins_p.S46fs|TREX1_uc003ctk.3_5'UTR|TREX1_uc010hka.3_Frame_Shift_Ins_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)		GCCCTGGAGAGCCCCCCCACCT	0.644												
TMEM89	440955	broad.mit.edu	37	3	48659073	48659073	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr3:48659072_48659072AC>A	uc011bbo.2	-	0	118	c.118_118GT>T	c.(118-120)tgtfs	p.C40fs		NM_001008269	NP_001008270	A2RUT3	TMM89_HUMAN	Homo sapiens transmembrane protein 89 (TMEM89), mRNA.	40						integral to membrane				breast(1)|lung(1)|stomach(1)	3				BRCA - Breast invasive adenocarcinoma(193;0.000286)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		TTTGGCTGACACCCCCAGGGC	0.662												
RBM6	10180	broad.mit.edu	37	3	50005145	50005145	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr3:50005144_50005144AG>A	uc003cyc.3	+	2	534	c.286_286AG>A	c.(286-288)aggfs	p.R96fs	RBM6_uc011bdh.2_Non-coding_Transcript|RBM6_uc010hlc.2_Intron|RBM6_uc003cyd.3_Intron|RBM6_uc011bdi.2_Intron|RBM6_uc003cye.3_Intron|RBM6_uc010hlf.2_Intron|RBM6_uc010hld.2_Intron|RBM6_uc010hle.2_Intron	NM_005777	NP_001161054	P78332	RBM6_HUMAN	Homo sapiens RNA binding motif protein 6 (RBM6), transcript variant 1, mRNA.	96					RNA processing	nucleus	DNA binding|RNA binding|nucleotide binding|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|skin(4)|urinary_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;6.81e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0084)|Kidney(197;0.00977)		ACATGATTTCAGGGGGGGAGA	0.498												
VPRBP	9730	broad.mit.edu	37	3	51457448	51457449	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr3:51457447_51457448G>GT	uc003dbe.2	-	13	3002_3003	c.2817_2818C>AC	c.(2815-2820)aaacagfs	p.K939fs	VPRBP_uc021wys.1_Frame_Shift_Ins_p.K938fs|VPRBP_uc003dbf.1_Frame_Shift_Ins_p.K268fs	NM_014703	NP_055518	Q9Y4B6	VPRBP_HUMAN	Homo sapiens Vpr (HIV-1) binding protein (VPRBP), transcript variant 1, mRNA.	992					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)		CTGTCCAGCTGTTTTTTTATGG	0.500												
STAB1	23166	broad.mit.edu	37	3	52543930	52543931	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr3:52543929_52543930T>TG	uc003dej.3	+	22	2465_2466	c.2391_2392T>TG	c.(2389-2394)agtgggfs	p.S797fs		NM_015136	NP_055951	Q9NY15	STAB1_HUMAN	Homo sapiens stabilin 1 (STAB1), mRNA.	797					cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		GCCCAGGCAGTGGGGGGGTGTG	0.653												
ACTR8	93973	broad.mit.edu	37	3	53910110	53910111	+	Splice_Site	INS	-	-	G			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr3:53910109_53910110T>TG	uc003dhd.3	-	7	880	c.779_splice	c.e7-1	p.G260_splice	ACTR8_uc003dhb.3_Splice_Site_p.G10_splice|ACTR8_uc003dhc.3_Splice_Site_p.G149_splice	NM_022899	NP_075050	Q9H981	ARP8_HUMAN	Homo sapiens ARP8 actin-related protein 8 homolog (yeast) (ACTR8), mRNA.	260					DNA recombination|DNA repair|cell division|mitosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ino80 complex	protein binding			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.000143)|KIRC - Kidney renal clear cell carcinoma(284;0.00544)|Kidney(284;0.00607)|OV - Ovarian serous cystadenocarcinoma(275;0.111)		CCACAATCCCTGGGGGGGGAAA	0.515												
ROBO2	6092	broad.mit.edu	37	3	77147335	77147335	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr3:77147334_77147334TC>T	uc011bgk.2	+	1	874	c.231_231TC>T	c.(229-231)gatfs	p.D77fs	ROBO2_uc021xat.1_Frame_Shift_Del_p.D93fs|ROBO2_uc003dpy.4_Frame_Shift_Del_p.D77fs|ROBO2_uc003dpz.3_Frame_Shift_Del_p.D77fs|ROBO2_uc011bgj.2_Non-coding_Transcript	NM_002942	NP_002933	Q9HCK4	ROBO2_HUMAN	Homo sapiens roundabout, axon guidance receptor, homolog 2 (Drosophila) (ROBO2), transcript variant 2, mRNA.	77	Ig-like C2-type 1.				apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		ACAAGGACGATCCCCGGTCCC	0.592												
FILIP1L	11259	broad.mit.edu	37	3	99568273	99568273	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr3:99568272_99568272GT>G	uc003dtm.3	-	4	2711	c.2248_2248AC>C	c.(2248-2250)ctafs	p.L750fs	MIR548G_uc021xbq.1_Intron|C3orf26_uc003dtk.2_Intron|C3orf26_uc003dtl.3_Intron|FILIP1L_uc003dto.3_Frame_Shift_Del_p.L750fs|FILIP1L_uc010hpf.3_Frame_Shift_Del_p.L326fs|FILIP1L_uc010hpg.3_Frame_Shift_Del_p.L510fs|FILIP1L_uc003dtn.3_Frame_Shift_Del_p.L510fs|FILIP1L_uc021xbr.1_Frame_Shift_Del_p.L510fs|FILIP1L_uc003dtp.1_Frame_Shift_Del_p.L510fs	NM_182909	NP_878913	Q4L180	FIL1L_HUMAN	Homo sapiens filamin A interacting protein 1-like (FILIP1L), transcript variant 1, mRNA.	750						cytoplasm|membrane|myosin complex|nucleus				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	35						TGTTGATTTAGTTTTTTTTGC	0.403												
ATG3	64422	broad.mit.edu	37	3	112277267	112277267	+	Splice_Site	DEL	A	A	-			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr3:112277266_112277266TA>T	uc003dzd.3	-	2	183	c.73_splice	c.e2-1	p.E25_splice	ATG3_uc003dzc.3_Splice_Site_p.E25_splice|ATG3_uc010hqe.3_Splice_Site_p.E25_splice	NM_022488	NP_071933	Q9NT62	ATG3_HUMAN	Homo sapiens ATG3 autophagy related 3 homolog (S. cerevisiae) (ATG3), mRNA.	25					autophagic vacuole assembly|mitochondrial fragmentation involved in apoptosis|protein targeting to membrane|protein ubiquitination	cytoplasmic ubiquitin ligase complex|cytosol	Atg12 ligase activity|Atg8 ligase activity|enzyme binding			breast(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(3)	9						CTTTGATTCCTAAAAAAAGCA	0.323												
C3orf30	152405	broad.mit.edu	37	3	118866406	118866406	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr3:118866405_118866405GA>G	uc003ecb.1	+	0	1409	c.1369_1369GA>G	c.(1369-1371)gaafs	p.E457fs	IGSF11_uc003eby.3_5'Flank|IGSF11_uc003ebz.3_5'Flank|IGSF11_uc010hqs.3_5'Flank|C3orf30_uc011biw.1_Frame_Shift_Del_p.E457fs	NM_152539	NP_689752	Q96M34	CC030_HUMAN	Homo sapiens chromosome 3 open reading frame 30 (C3orf30), mRNA.	457										NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(20)|ovary(2)|prostate(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(114;0.222)		CAGCAGTCAAGAAAAAACTCA	0.423												
FBXO40	51725	broad.mit.edu	37	3	121340412	121340413	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr3:121340411_121340412C>CT	uc003eeg.2	+	2	345_346	c.135_136C>CT	c.(133-138)accttcfs	p.T45fs		NM_016298	NP_057382	Q9UH90	FBX40_HUMAN	Homo sapiens F-box protein 40 (FBXO40), mRNA.	45				T -> A (in Ref. 1; AAF17085).	muscle cell differentiation	centrosome|nucleus	ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(11)|lung(19)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	46				GBM - Glioblastoma multiforme(114;0.189)		GTGGTGCCACCTTCCACATGTG	0.574												
TF	7018	broad.mit.edu	37	3	133476714	133476714	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr3:133476713_133476713TC>T	uc003epu.2	+	12	2699	c.971_971TC>T	c.(970-972)gtcfs	p.V324fs	TF_uc011blt.2_Frame_Shift_Del_p.V197fs|TF_uc003epw.2_Intron|TF_uc003epv.2_Frame_Shift_Del_p.V324fs	NM_001063	NP_001054	P02787	TRFE_HUMAN	Homo sapiens transferrin (TF), mRNA.	324	Transferrin-like 1.				cellular iron ion homeostasis|platelet activation|platelet degranulation|transferrin transport|transmembrane transport	apical plasma membrane|basal plasma membrane|coated pit|early endosome|endocytic vesicle|endosome membrane|extracellular region|late endosome|perinuclear region of cytoplasm|recycling endosome|stored secretory granule	ferric iron binding			NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(7)|large_intestine(13)|liver(2)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49					Aluminium(DB01370)|Bismuth(DB01402)|Iron Dextran(DB00893)	TTTTTAAAAGTCCCCCCCAGG	0.488												
STAG1	10274	broad.mit.edu	37	3	136240262	136240263	+	Splice_Site	INS	-	-	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr3:136240261_136240262T>TA	uc003era.1	-	7	764	c.472_splice	c.e7-1	p.D158_splice	STAG1_uc003erb.1_Splice_Site_p.D158_splice|STAG1_uc003erc.1_Splice_Site|STAG1_uc010hua.1_Splice_Site_p.D21_splice|STAG1_uc003ere.3_Splice_Site_p.D158_splice	NM_005862	NP_005853	Q8WVM7	STAG1_HUMAN	Homo sapiens stromal antigen 1 (STAG1), mRNA.	158					cell division|chromosome segregation|mitotic metaphase/anaphase transition|mitotic prometaphase	cell junction|chromatin|chromosome, centromeric region|nucleoplasm	protein binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						ACCACTGTCCTAAAAAACAGAA	0.361												
CLCN2	1181	broad.mit.edu	37	3	184073510	184073510	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr3:184073509_184073509AG>A	uc003foi.3	-	10	1267	c.1143_1143CT>T	c.(1141-1143)cctfs	p.P381fs	CLCN2_uc003foh.3_5'UTR|CLCN2_uc010hya.2_Frame_Shift_Del_p.P381fs|CLCN2_uc011brl.2_Frame_Shift_Del_p.P381fs|CLCN2_uc011brm.2_Frame_Shift_Del_p.P337fs|CLCN2_uc011brn.1_Frame_Shift_Del_p.P381fs	NM_004366	NP_004357	P51788	CLCN2_HUMAN	Homo sapiens chloride channel 2 (CLCN2), transcript variant 1, mRNA.	381						chloride channel complex	voltage-gated chloride channel activity			breast(2)|central_nervous_system(4)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	27	all_cancers(143;6.66e-11)|Ovarian(172;0.0339)		Epithelial(37;2.22e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Lubiprostone(DB01046)	GTCCAAAGCCAGGGGGGAAGG	0.572												
GAK	2580	broad.mit.edu	37	4	845556	845556	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr4:845555_845555AC>A	uc003gbm.4	-	24	3690	c.3491_3491GT>T	c.(3490-3492)gtcfs	p.V1164fs	GAK_uc003gbn.4_Frame_Shift_Del_p.V1085fs|GAK_uc010ibj.3_Non-coding_Transcript|GAK_uc003gbl.4_Frame_Shift_Del_p.V1017fs	NM_005255	NP_005246	O14976	GAK_HUMAN	Homo sapiens cyclin G associated kinase (GAK), mRNA.	1164					cell cycle	Golgi apparatus|focal adhesion|perinuclear region of cytoplasm	ATP binding|heat shock protein binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2)	39				Colorectal(103;0.219)		GGGTGCGCGGACCCCCCGCTC	0.597												
SLC26A1	10861	broad.mit.edu	37	4	982997	982998	+	Frame_Shift_Ins	INS	-	-	C	rs113951266	byFrequency	TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr4:982996_982997G>GC	uc003gcb.3	-	3	2108_2109	c.1730_1731C>GC	c.(1729-1731)ggcfs	p.G577fs	SLC26A1_uc003gbx.3_Intron|IDUA_uc003gby.3_Intron|IDUA_uc003gbz.3_Intron|IDUA_uc003gca.3_Intron|SLC26A1_uc003gcc.3_Frame_Shift_Ins_p.G577fs	NM_213613	NP_998778	Q9H2B4	S26A1_HUMAN	Homo sapiens solute carrier family 26 (sulfate transporter), member 1 (SLC26A1), transcript variant 3, mRNA.	577	STAS.					integral to membrane|plasma membrane	secondary active sulfate transmembrane transporter activity			central_nervous_system(1)|endometrium(4)|pancreas(1)|prostate(1)|skin(1)	8			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			CCGTCTCTGAGCCCCCCTCCTT	0.688												
FAM193A	8603	broad.mit.edu	37	4	2661593	2661594	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr4:2661592_2661593A>AC	uc010ick.3	+	8	1284_1285	c.1283_1284A>AC	c.(1282-1284)gacfs	p.D428fs	FAM193A_uc003gfd.3_Frame_Shift_Ins_p.D228fs|FAM193A_uc011bvm.2_Frame_Shift_Ins_p.D252fs|FAM193A_uc011bvn.2_Frame_Shift_Ins_p.D228fs|FAM193A_uc010icl.3_Frame_Shift_Ins_p.D228fs|FAM193A_uc011bvo.2_Non-coding_Transcript|FAM193A_uc010icm.3_Non-coding_Transcript|FAM193A_uc003gfe.2_Frame_Shift_Ins_p.D82fs	NM_003704	NP_003695	P78312	F193A_HUMAN	Homo sapiens family with sequence similarity 193, member A (FAM193A), mRNA.	228										NS(2)|breast(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(12)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	40						GGTATCATGGACCCCCCCGTCA	0.525												
QDPR	5860	broad.mit.edu	37	4	17513588	17513588	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr4:17513587_17513587GA>G	uc003gpd.3	-	0	271	c.91_91TC>C	c.(91-93)cggfs	p.R31fs	QDPR_uc021xmo.1_Non-coding_Transcript|QDPR_uc003gpe.3_Frame_Shift_Del_p.R31fs	NM_000320	NP_000311	P09417	DHPR_HUMAN	Homo sapiens quinoid dihydropteridine reductase (QDPR), mRNA.	31					L-phenylalanine catabolic process|dihydrobiopterin metabolic process|tetrahydrobiopterin biosynthetic process	cytosol	6,7-dihydropteridine reductase activity|binding|electron carrier activity	p.R31R(2)		autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	13					NADH(DB00157)	TTGCGGGCCCGAAAAGCCTGC	0.731												
IGFBP7	3490	broad.mit.edu	37	4	57898593	57898593	+	Splice_Site	DEL	T	T	-			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr4:57898592_57898592CT>C	uc003hcn.3	-	4	863	c.829_splice	c.e4+1	p.G277_splice	IGFBP7_uc011cag.2_Frame_Shift_Del_p.G277fs	NM_001553	NP_001544	Q16270	IBP7_HUMAN	Homo sapiens insulin-like growth factor binding protein 7 (IGFBP7), transcript variant 1, mRNA.	277				PVKKGEGAEL -> ASEKR (in Ref. 1; AAA16187).	cell adhesion|negative regulation of cell proliferation|regulation of cell growth	extracellular space	insulin-like growth factor binding			central_nervous_system(1)|endometrium(1)|lung(3)	5	Glioma(25;0.08)|all_neural(26;0.181)				Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TATTGTGTACCTTTTTTCACT	0.358												
GK2	2712	broad.mit.edu	37	4	80327750	80327751	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr4:80327749_80327750T>TA	uc003hlu.3	-	0	1623_1624	c.1605_1606A>TA	c.(1603-1608)tttatafs	p.F535fs		NM_033214	NP_149991	Q14410	GLPK2_HUMAN	Homo sapiens glycerol kinase 2 (GK2), mRNA.	535					glycerol-3-phosphate metabolic process	mitochondrial outer membrane	ATP binding|glycerol kinase activity			autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	39						CTACTCACTATAAAAAATCCCA	0.406												
SCLT1	132320	broad.mit.edu	37	4	129878248	129878250	+	In_Frame_Del	DEL	TCT	TCT	-			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr4:129878247_129878249GTCT>G	uc003igp.2	-	12	1584_1586	c.1078_1080AGAC>C	c.(1078-1080)gac>C	p.D360del	SCLT1_uc003ign.2_In_Frame_Del_p.D24del|SCLT1_uc003igo.2_5'UTR|SCLT1_uc003igq.2_Intron|SCLT1_uc010iob.1_Intron	NM_144643	NP_653244	Q96NL6	SCLT1_HUMAN	Homo sapiens sodium channel and clathrin linker 1 (SCLT1), mRNA.	360						centrosome				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	29						TTTTCTCTATGTCTTCTTCTTTT	0.286												
TBC1D9	23158	broad.mit.edu	37	4	141598226	141598231	+	In_Frame_Del	DEL	CTCTCA	CTCTCA	-			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr4:141598225_141598230TCTCTCA>T	uc010ioj.3	-	5	1149_1154	c.877_882TGAGAGA>A	c.(877-882)gagaga>A	p.ER293del		NM_015130	NP_055945	Q6ZT07	TBCD9_HUMAN	Homo sapiens TBC1 domain family, member 9 (with GRAM domain) (TBC1D9), mRNA.	293	GRAM 2.					intracellular	Rab GTPase activator activity|calcium ion binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	31	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)				GTGCACGGTATCTCTCACTCTTTGCC	0.422												
SMARCA5	8467	broad.mit.edu	37	4	144467118	144467118	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr4:144467117_144467117CA>C	uc003ijg.3	+	18	2899	c.2437_2437CA>C	c.(2437-2439)caafs	p.Q813fs		NM_003601	NP_003592	O60264	SMCA5_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5 (SMARCA5), mRNA.	813					CenH3-containing nucleosome assembly at centromere|nucleosome positioning|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	NURF complex|RSF complex|condensed chromosome|nucleolus|nucleoplasm	ATP binding|ATPase activity|DNA binding|helicase activity|nucleosome binding|protein binding		EWSR1/SMARCA5(2)	endometrium(2)|kidney(2)|large_intestine(9)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_hematologic(180;0.158)					AGCACAGGCACAAAAAGAAGA	0.363												
SLC12A7	10723	broad.mit.edu	37	5	1074698	1074698	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr5:1074697_1074697TG>T	uc003jbu.3	-	15	2123	c.2057_2057CA>A	c.(2056-2058)cacfs	p.H686fs		NM_006598	NP_006589	Q9Y666	S12A7_HUMAN	Homo sapiens solute carrier family 12 (potassium/chloride transporters), member 7 (SLC12A7), mRNA.	686					potassium ion transport|sodium ion transport	integral to plasma membrane	potassium:chloride symporter activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	32	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		Potassium Chloride(DB00761)	GTTCTTGGTGTGGGGGGGACC	0.647												
DNAH5	1767	broad.mit.edu	37	5	13845087	13845088	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr5:13845086_13845087G>GT	uc003jfd.2	-	31	5172_5173	c.5130_5131C>AC	c.(5128-5133)aaacgafs	p.K1710fs		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	1710	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.R1711Q(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)					AAGCACAGTCGTTTTTTCTCCA	0.460									Kartagener syndrome			
CENPH	64946	broad.mit.edu	37	5	68491598	68491599	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr5:68491597_68491598T>TA	uc003jvp.3	+	3	380_381	c.293_294T>TA	c.(292-294)atafs	p.I98fs	CENPH_uc010ixc.3_Frame_Shift_Ins_p.I98fs	NM_022909	NP_075060	Q9H3R5	CENPH_HUMAN	Homo sapiens centromere protein H (CENPH), mRNA.	98					CenH3-containing nucleosome assembly at centromere|cell division|chromosome segregation|kinetochore organization|mitotic prometaphase	condensed chromosome kinetochore|cytosol|nucleoplasm	kinetochore binding|protein binding			kidney(15)|large_intestine(2)|lung(3)	20		Lung NSC(167;5.51e-05)|Prostate(74;0.00634)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.41e-56)|Epithelial(20;1.29e-52)|all cancers(19;3.15e-48)|Lung(70;0.0178)		GCTTTTGAGATAAAAAAGCTTG	0.312												
COL4A3BP	10087	broad.mit.edu	37	5	74696125	74696125	+	Splice_Site	DEL	A	A	-			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr5:74696124_74696124TA>T	uc011csu.2	-	10	1440	c.1018_splice	c.e10-1	p.S340_splice	COL4A3BP_uc003kds.3_Splice_Site_p.S340_splice|COL4A3BP_uc003kdt.3_Splice_Site_p.S468_splice|COL4A3BP_uc003kdu.2_Splice_Site_p.S340_splice	NM_005713	NP_005704	Q9Y5P4	C43BP_HUMAN	Homo sapiens collagen, type IV, alpha 3 (Goodpasture antigen) binding protein (COL4A3BP), transcript variant 1, mRNA.	340					ER to Golgi ceramide transport|immune response	Golgi apparatus|cytosol|endoplasmic reticulum membrane	ceramide binding|phosphatidylinositol-4-phosphate binding|protein binding|protein kinase activity			breast(1)|kidney(1)|large_intestine(5)|lung(4)|skin(3)|stomach(1)|urinary_tract(1)	16		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174)		OV - Ovarian serous cystadenocarcinoma(47;1e-53)		ACTCTGTGACTAAAAAAACAT	0.368												
GLRX	2745	broad.mit.edu	37	5	95152333	95152333	+	Splice_Site	DEL	A	A	-			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr5:95152332_95152332TA>T	uc021ybn.1	-	2	419	c.208_splice	c.e2-1	p.V70_splice	GLRX_uc003kln.4_Splice_Site_p.V70_splice|GLRX_uc003klo.4_Splice_Site_p.V70_splice|GLRX_uc021ybo.1_Splice_Site_p.V70_splice	NM_001243659	NP_001230588	P35754	GLRX1_HUMAN	Homo sapiens glutaredoxin (thioltransferase) (GLRX), transcript variant 4, mRNA.	70	Glutaredoxin.				cell redox homeostasis|electron transport chain|nucleobase, nucleoside and nucleotide interconversion|transport	cytosol	electron carrier activity|glutathione disulfide oxidoreductase activity|protein N-terminus binding|protein disulfide oxidoreductase activity			endometrium(3)|large_intestine(1)|lung(1)	5		all_cancers(142;3.38e-06)|all_epithelial(76;5.66e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0164)|Colorectal(57;0.0846)|Breast(839;0.198)		all cancers(79;2.62e-16)	Glutathione(DB00143)	TCGAGGCACCTAAAAAAGCAC	0.413												
FBN2	2201	broad.mit.edu	37	5	127744418	127744418	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr5:127744417_127744417CA>C	uc003kuu.3	-	7	1467	c.1028_1028TG>G	c.(1027-1029)tgtfs	p.C343fs	FBN2_uc003kuv.2_Frame_Shift_Del_p.C310fs	NM_001999	NP_001990	P35556	FBN2_HUMAN	Homo sapiens fibrillin 2 (FBN2), mRNA.	343	EGF-like 5; calcium-binding.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		TGGACAAACACAAAAATAGCT	0.433												
IK	3550	broad.mit.edu	37	5	140032593	140032594	+	Frame_Shift_Ins	INS	-	-	GA			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr5:140032592_140032593T>TGA	uc003lgq.3	+	4	377_378	c.267_268T>TGA	c.(265-270)attgagfs	p.I89fs	IK_uc011czk.1_Frame_Shift_Ins_p.I89fs|IK_uc021yen.1_Frame_Shift_Ins_p.I30fs	NM_006083	NP_006074	Q13123	RED_HUMAN	Homo sapiens IK cytokine, down-regulator of HLA II (IK), mRNA.	89					cell-cell signaling|immune response	extracellular space|nucleus|soluble fraction				large_intestine(1)	1		all_hematologic(541;4.8e-07)|all_lung(500;0.000434)|Lung NSC(810;0.00161)|Breast(839;0.128)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AACAAGAAATTGAGAGAGAGAG	0.465												
FAT2	2196	broad.mit.edu	37	5	150886794	150886795	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr5:150886793_150886794T>TG	uc003lue.4	-	21	12451_12452	c.12438_12439A>CA	c.(12436-12441)cccagafs	p.P4146fs	FAT2_uc003lud.4_Frame_Shift_Ins_p.P753fs	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	Homo sapiens FAT tumor suppressor homolog 2 (Drosophila) (FAT2), mRNA.	4146					epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGCGGGAGTCTGGGGGGCACAC	0.559												
GALNT10	55568	broad.mit.edu	37	5	153674403	153674404	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr5:153674402_153674403G>GT	uc003lvh.3	+	1	318_319	c.186_187G>GT	c.(184-189)acgtttfs	p.T62fs	GALNT10_uc003lvg.1_Frame_Shift_Ins_p.T62fs|GALNT10_uc010jic.3_Non-coding_Transcript	NM_198321	NP_938080	Q86SR1	GLT10_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 10 (GalNAc-T10) (GALNT10), mRNA.	62						Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	32	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)|all_hematologic(541;0.21)	Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577)			AAAAGAAAACGTTTTTCTTGGG	0.495												
HLA-C	3107	broad.mit.edu	37	6	31323363	31323363	+	Frame_Shift_Del	DEL	G	G	-	rs77061046		TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr6:31323362_31323362TG>T	uc003nth.2	-	3	681	c.627_627CA>A	c.(625-627)ccafs	p.P209fs	HLA-C_uc003ntf.2_Intron|HLA-C_uc003ntg.1_Frame_Shift_Del_p.P88fs|HLA-C_uc003nti.1_Non-coding_Transcript|HLA-C_uc010jsn.1_Non-coding_Transcript|HLA-C_uc010jso.2_3'UTR|HLA-C_uc021yum.1_3'UTR	NM_005514	NP_005505	Q9TNN7	1C05_HUMAN	Homo sapiens major histocompatibility complex, class I, B (HLA-B), mRNA.	209	Alpha-3.|Ig-like C1-type.				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	MHC class I protein complex|integral to membrane				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	17						CGTGTGTCTTTGGGGGGTCTG	0.577												
SKIV2L	6499	broad.mit.edu	37	6	31934881	31934881	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr6:31934880_31934880TG>T	uc003nyn.1	+	19	2829	c.2440_2440TG>T	c.(2440-2442)tggfs	p.W814fs	SKIV2L_uc011dou.1_Frame_Shift_Del_p.W656fs|SKIV2L_uc011dov.1_Frame_Shift_Del_p.W621fs	NM_006929	NP_008860	Q15477	SKIV2_HUMAN	Homo sapiens superkiller viralicidic activity 2-like (S. cerevisiae) (SKIV2L), mRNA.	814						nucleus	ATP binding|ATP-dependent RNA helicase activity|RNA binding|protein binding			breast(1)|central_nervous_system(1)|large_intestine(1)|ovary(1)	4						ATATTACAGCTGGGGGGAGGA	0.552												
STK38	11329	broad.mit.edu	37	6	36465583	36465584	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr6:36465582_36465583C>CA	uc003omg.3	-	10	1734_1735	c.1146_1147G>TG	c.(1144-1149)tttgaafs	p.F382fs	STK38_uc003omh.3_Frame_Shift_Ins_p.F382fs|STK38_uc003omi.3_Frame_Shift_Ins_p.F382fs	NM_007271	NP_009202	Q15208	STK38_HUMAN	Homo sapiens serine/threonine kinase 38 (STK38), mRNA.	382	Protein kinase.				intracellular protein kinase cascade|negative regulation of MAP kinase activity	MLL5-L complex|cytoplasm	ATP binding|magnesium ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine kinase activity			NS(1)|endometrium(4)|large_intestine(2)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TCAACGCCTTCAAAAAAAGAGT	0.366												
DNAH8	1769	broad.mit.edu	37	6	38885824	38885825	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr6:38885823_38885824C>CA	uc021yzh.1	+	69	10540_10541	c.10431_10432C>CA	c.(10429-10434)gccaaafs	p.A3477fs	DNAH8_uc003ooe.2_Frame_Shift_Ins_p.A3260fs|LOC100131047_uc003oof.2_Intron	NM_001206927	NP_001193856			Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TTGAAAGTGCCAAAAAAGTCTG	0.396												
IBTK	25998	broad.mit.edu	37	6	82891683	82891683	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr6:82891682_82891682CT>C	uc003pjl.1	-	25	4166	c.3639_3639AG>G	c.(3637-3639)aagfs	p.K1213fs	IBTK_uc011dyu.1_Frame_Shift_Del_p.K164fs|IBTK_uc011dyv.1_Frame_Shift_Del_p.K1198fs|IBTK_uc011dyw.1_Frame_Shift_Del_p.K1012fs|IBTK_uc010kbi.1_Frame_Shift_Del_p.K907fs	NM_015525	NP_056340	Q9P2D0	IBTK_HUMAN	Homo sapiens inhibitor of Bruton agammaglobulinemia tyrosine kinase (IBTK), mRNA.	1213					negative regulation of protein phosphorylation|release of sequestered calcium ion into cytosol	cytoplasm|membrane|nucleus	protein kinase binding|protein tyrosine kinase inhibitor activity			central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(10)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	54		all_cancers(76;3.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.0037)		BRCA - Breast invasive adenocarcinoma(397;0.0901)		TAGTAACAGACTTTTTTTCTT	0.348												
ASCC3	10973	broad.mit.edu	37	6	101091910	101091910	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr6:101091909_101091909GT>G	uc003pqk.3	-	22	4059	c.3730_3730AC>C	c.(3730-3732)caafs	p.Q1244fs		NM_006828	NP_006819	Q8N3C0	HELC1_HUMAN	Homo sapiens activating signal cointegrator 1 complex subunit 3 (ASCC3), transcript variant 1, mRNA.	1244	SEC63 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton	ATP binding|ATP-dependent helicase activity|nucleic acid binding	p.Q1244H(1)		breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	92		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)		ACACTTACTTGTTTTTTTAGA	0.289												
SLC22A1	6580	broad.mit.edu	37	6	160557287	160557287	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr6:160557286_160557286CA>C	uc003qtc.3	+	4	979	c.874_874CA>C	c.(874-876)caafs	p.Q292fs	SLC22A1_uc003qtd.3_Frame_Shift_Del_p.Q292fs	NM_003057	NP_003048	O15245	S22A1_HUMAN	Homo sapiens solute carrier family 22 (organic cation transporter), member 1 (SLC22A1), transcript variant 1, mRNA.	292						basolateral plasma membrane|integral to plasma membrane|membrane fraction	organic cation transmembrane transporter activity|protein binding		SLC22A1/CUTA(2)	breast(1)|endometrium(3)|large_intestine(3)|lung(13)|upper_aerodigestive_tract(1)	21		Breast(66;0.000776)|Ovarian(120;0.00556)		OV - Ovarian serous cystadenocarcinoma(65;2.73e-17)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)		GCTGTTATCACAAAAAAGAAA	0.488												
PRKAR1B	5575	broad.mit.edu	37	7	720281	720281	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr7:720280_720280CG>C	uc003siu.2	-	2	394	c.261_261CG>G	c.(259-261)ccgfs	p.P87fs	PRKAR1B_uc021zyi.1_Frame_Shift_Del_p.P87fs|PRKAR1B_uc003siv.3_Frame_Shift_Del_p.P87fs|PRKAR1B_uc021zyj.1_Frame_Shift_Del_p.P87fs|PRKAR1B_uc021zyk.1_Frame_Shift_Del_p.P87fs|PRKAR1B_uc003siw.2_Frame_Shift_Del_p.P87fs	NM_002735	NP_002726	P31321	KAP1_HUMAN	Homo sapiens protein kinase, cAMP-dependent, regulatory, type I, beta (PRKAR1B), transcript variant 2, mRNA.	87	Dimerization and phosphorylation.				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|protein phosphorylation|regulation of insulin secretion|transmembrane transport|water transport	cAMP-dependent protein kinase complex|cytosol	cAMP binding|cAMP-dependent protein kinase regulator activity	p.P87T(1)		endometrium(4)|large_intestine(1)|liver(1)|lung(10)|prostate(1)	17		Ovarian(82;0.0779)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|Epithelial(4;5.75e-19)|OV - Ovarian serous cystadenocarcinoma(56;2.01e-18)|all cancers(6;3.96e-16)|BRCA - Breast invasive adenocarcinoma(126;0.152)		CCACAGGGTTCGGGGGGGTGG	0.622												
POLM	27434	broad.mit.edu	37	7	44120414	44120415	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr7:44120413_44120414T>TG	uc003tjt.3	-	1	382_383	c.290_291A>CA	c.(289-291)ccafs	p.P97fs	POLM_uc003tju.3_Frame_Shift_Ins_p.P97fs|POLM_uc003tjv.3_Non-coding_Transcript|POLM_uc003tjx.2_Frame_Shift_Ins_p.P97fs|POLM_uc011kbt.1_5'UTR|POLM_uc003tjz.4_Frame_Shift_Ins_p.P97fs|POLM_uc003tka.1_5'Flank|POLM_uc011kbu.1_Frame_Shift_Ins_p.P97fs|POLM_uc010kxy.2_Frame_Shift_Ins_p.P97fs	NM_013284	NP_037416	Q9NP87	DPOLM_HUMAN	Homo sapiens polymerase (DNA directed), mu (POLM), mRNA.	97	BRCT.				DNA recombination|DNA repair	nucleus	DNA binding|DNA nucleotidylexotransferase activity|DNA-directed DNA polymerase activity|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(6)|ovary(3)|skin(2)	22						CCAGCAGAGCTGGGGGGGTGCA	0.634								DNA polymerases (catalytic subunits)				
OGDH	4967	broad.mit.edu	37	7	44747228	44747229	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr7:44747227_44747228A>AC	uc003tln.3	+	21	3002_3003	c.2843_2844A>AC	c.(2842-2844)tacfs	p.Y948fs	OGDH_uc011kbx.2_Frame_Shift_Ins_p.Y944fs|OGDH_uc011kby.2_Frame_Shift_Ins_p.Y798fs|OGDH_uc003tlp.3_Frame_Shift_Ins_p.Y959fs|OGDH_uc011kbz.2_Frame_Shift_Ins_p.Y743fs	NM_002541	NP_002532	Q02218	ODO1_HUMAN	Homo sapiens oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide) (OGDH), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	948					glycolysis|lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|mitochondrial membrane	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	36					NADH(DB00157)	GTGCAGAAGTACCCCAATGCTG	0.564												
POM121	9883	broad.mit.edu	37	7	72397427	72397428	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr7:72397426_72397427T>TC	uc003twk.2	+	2	947_948	c.947_948T>TC	c.(946-948)ctcfs	p.L316fs	POM121_uc003twj.3_Frame_Shift_Ins_p.L51fs|POM121_uc010lam.1_Frame_Shift_Ins_p.L51fs	NM_172020	NP_742017	Q96HA1	P121A_HUMAN	Homo sapiens POM121 membrane glycoprotein (POM121), mRNA.	316	Pore side (Potential).				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Lung NSC(55;0.163)				CTGAGTGCCCTCAAAGAGAAGG	0.460												
ABCB1	5243	broad.mit.edu	37	7	87178807	87178808	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr7:87178806_87178807CCT>C	uc003uiz.2	-	14	2075_2076	c.1582_1583AGG>G	c.(1582-1584)gggfs	p.G528fs	ABCB1_uc011khc.2_Frame_Shift_Del_p.G464fs	NM_000927	NP_000918	P08183	MDR1_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 1 (ABCB1), mRNA.	528	ABC transporter 1.				G2/M transition of mitotic cell cycle|stem cell proliferation	Golgi membrane|apical plasma membrane|cell surface|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)	CAACTGGGCCCCTCTCTCTCCA	0.505												
LAMB1	3912	broad.mit.edu	37	7	107638926	107638926	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr7:107638925_107638925AT>A	uc003vev.2	-	1	459	c.298_298AT>T	c.(298-300)tgcfs	p.C100fs	LAMB1_uc003vew.2_Frame_Shift_Del_p.C76fs|LAMB1_uc003vex.3_Frame_Shift_Del_p.C76fs|LAMB1_uc010ljn.1_Frame_Shift_Del_p.C162fs	NM_002291	NP_002282	P07942	LAMB1_HUMAN	Homo sapiens laminin, beta 1 (LAMB1), mRNA.	76	Laminin N-terminal.				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)	CATATGAAGCATTTTTTGTCC	0.363												
WNT16	51384	broad.mit.edu	37	7	120971879	120971879	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr7:120971878_120971878TG>T	uc003vjw.3	+	2	750	c.493_493TG>T	c.(493-495)tggfs	p.W165fs	WNT16_uc003vjv.3_Frame_Shift_Del_p.W155fs|WNT16_uc010lkl.3_Intron	NM_057168	NP_476509	Q9UBV4	WNT16_HUMAN	Homo sapiens wingless-type MMTV integration site family, member 16 (WNT16), transcript variant 1, mRNA.	165					Wnt receptor signaling pathway, calcium modulating pathway|anterior/posterior pattern formation|axis specification|axonogenesis|canonical Wnt receptor signaling pathway|keratinocyte differentiation|keratinocyte proliferation|negative regulation of cell death|optic cup formation involved in camera-type eye development|oxidative stress-induced premature senescence|positive regulation of JNK cascade|positive regulation of gene expression|positive regulation of phosphatidylinositol 3-kinase cascade|replicative senescence	cytoplasm|extracellular space|plasma membrane|proteinaceous extracellular matrix	frizzled binding|signal transducer activity	p.C168fs*4(2)|p.H164P(1)		breast(1)|large_intestine(4)|lung(9)|ovary(3)|prostate(1)	18	all_neural(327;0.117)					AGGCTGGCACTGGGGGGGCTG	0.537												
JHDM1D	80853	broad.mit.edu	37	7	139833448	139833448	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr7:139833447_139833447CT>C	uc003vvm.3	-	2	294	c.290_290AG>G	c.(289-291)aggfs	p.R97fs		NM_030647	NP_085150	Q6ZMT4	KDM7_HUMAN	Homo sapiens jumonji C domain containing histone demethylase 1 homolog D (S. cerevisiae) (JHDM1D), mRNA.	97	Linker.				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			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)	22	Melanoma(164;0.0142)					CCAGTTCCTCCTTTTTTTCAC	0.338												
NOBOX	135935	broad.mit.edu	37	7	144096175	144096176	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr7:144096174_144096175T>TG	uc022aoj.1	-	7	1337_1338	c.1337_1338A>CA	c.(1336-1338)ccafs	p.P446fs		NM_001080413	NP_001073882	O60393	NOBOX_HUMAN	Homo sapiens NOBOX oogenesis homeobox (NOBOX), mRNA.	446	Pro-rich.				cell differentiation|oogenesis	nucleus	sequence-specific DNA binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)	26	Melanoma(164;0.14)					TTCGCACAGGTGGGGGGCTGAA	0.629												
NOS3	4846	broad.mit.edu	37	7	150698398	150698399	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr7:150698397_150698398A>AG	uc003wif.3	+	10	1608_1609	c.1312_1313A>AG	c.(1312-1314)aggfs	p.R438fs	NOS3_uc011kuy.2_Frame_Shift_Ins_p.R232fs|NOS3_uc011kva.2_Frame_Shift_Ins_p.R438fs|NOS3_uc011kuz.2_Frame_Shift_Ins_p.R438fs|NOS3_uc011kvb.2_Frame_Shift_Ins_p.R438fs	NM_000603	NP_000594	P29474	NOS3_HUMAN	Homo sapiens nitric oxide synthase 3 (endothelial cell) (NOS3), transcript variant 1, mRNA.	438	Interaction with NOSIP.				anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia	Golgi membrane|caveola|cytoskeleton|cytosol	FMN binding|NADP binding|actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|heme binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360)	GCAGAAGGCCAGGGGGGGCTGC	0.614												
CHRNA6	8973	broad.mit.edu	37	8	42611529	42611529	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr8:42611528_42611528CT>C	uc003xpj.3	-	4	1170	c.814_814AG>G	c.(814-816)gtgfs	p.V272fs	CHRNA6_uc011lcw.2_Frame_Shift_Del_p.V257fs	NM_004198	NP_004189	Q15825	ACHA6_HUMAN	Homo sapiens cholinergic receptor, nicotinic, alpha 6 (CHRNA6), transcript variant 1, mRNA.	272						cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			endometrium(2)|large_intestine(3)|liver(1)|lung(15)|ovary(1)	22	all_lung(13;3.33e-12)|Lung NSC(13;9.17e-11)|Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00439)|Lung NSC(58;0.0124)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	Lung(22;0.0252)|LUSC - Lung squamous cell carcinoma(45;0.0869)			CAAAGCGTCACTTTTTCACCA	0.438												
CHCHD7	79145	broad.mit.edu	37	8	57129070	57129070	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr8:57129069_57129069CA>C	uc003xsv.3	+	3	378	c.207_207CA>C	c.(205-207)tacfs	p.Y69fs	CHCHD7_uc003xsu.3_Frame_Shift_Del_p.Y56fs|CHCHD7_uc003xss.3_3'UTR|CHCHD7_uc003xst.3_3'UTR|CHCHD7_uc003xsx.3_Frame_Shift_Del_p.Y44fs|CHCHD7_uc003xsw.3_3'UTR	NM_001011668	NP_001011671	Q9BUK0	CHCH7_HUMAN	Homo sapiens coiled-coil-helix-coiled-coil-helix domain containing 7 (CHCHD7), transcript variant 2, mRNA.	44									CHCHD7/PLAG1(12)	endometrium(1)	1		all_lung(136;0.0548)|Lung NSC(129;0.0718)|all_epithelial(80;0.125)	Epithelial(17;0.00159)|all cancers(17;0.0112)			TCTTGAGGTACAAAAACTGCC	0.418			T	PLAG1	salivary adenoma							
NSMAF	8439	broad.mit.edu	37	8	59548060	59548061	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr8:59548059_59548060C>CA	uc011lee.2	-	2	349_350	c.288_289G>TG	c.(286-291)tttgaafs	p.F96fs	NSMAF_uc003xtt.3_Frame_Shift_Ins_p.F65fs	NM_001144772	NP_001138244	Q92636	FAN_HUMAN	Homo sapiens neutral sphingomyelinase (N-SMase) activation associated factor (NSMAF), transcript variant 2, mRNA.	65					ceramide metabolic process	cytoplasm|soluble fraction	protein binding|receptor signaling protein activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	38		all_lung(136;0.174)|Lung NSC(129;0.2)				GAATCTGGTTCAAAAATCACCG	0.317												
PREX2	80243	broad.mit.edu	37	8	68992721	68992722	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr8:68992720_68992721G>GT	uc003xxv.1	+	15	1712_1713	c.1685_1686G>GT	c.(1684-1686)cgtfs	p.R562fs	PREX2_uc003xxu.1_Frame_Shift_Ins_p.R562fs|PREX2_uc011lez.1_Frame_Shift_Ins_p.R497fs	NM_024870	NP_079146	Q70Z35	PREX2_HUMAN	Homo sapiens phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 (PREX2), transcript variant 1, mRNA.	562	DEP 2.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity|protein binding			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						CTACTTTTCCGTTTTTTTTCGG	0.332												
KCNB2	9312	broad.mit.edu	37	8	73480397	73480398	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr8:73480396_73480397C>CA	uc003xzb.3	+	1	1015_1016	c.427_428C>CA	c.(427-429)caafs	p.Q143fs		NM_004770	NP_004761	Q92953	KCNB2_HUMAN	Homo sapiens potassium voltage-gated channel, Shab-related subfamily, member 2 (KCNB2), mRNA.	143					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding	p.Q143K(2)|p.E146fs*3(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			CAGATATCATCAAAAAAAAGAA	0.446												
ZFHX4	79776	broad.mit.edu	37	8	77617547	77617548	+	Frame_Shift_Ins	INS	-	-	G	rs13252403		TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr8:77617546_77617547T>TG	uc003yau.2	+	1	1610_1611	c.1223_1224T>TG	c.(1222-1224)ctgfs	p.L408fs	ZFHX4_uc003yat.1_Frame_Shift_Ins_p.L408fs|ZFHX4_uc003yaw.1_Frame_Shift_Ins_p.L408fs	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA.	408						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			GAAGTGAATCTGGGGGGGCTGT	0.535										HNSCC(33;0.089)		
ZFHX4	79776	broad.mit.edu	37	8	77775799	77775799	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr8:77775798_77775798AG>A	uc003yau.2	+	10	10235	c.9848_9848AG>A	c.(9847-9849)cagfs	p.Q3283fs		NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA.	3234						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			GGAACAGTGCAGGGGGGATAC	0.532										HNSCC(33;0.089)		
RGS22	26166	broad.mit.edu	37	8	101076179	101076181	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr8:101076178_101076180CCTT>C	uc003yjb.1	-	7	1011_1013	c.816_818AAGG>G	c.(814-819)gaagga>gaGa	p.G273del	RGS22_uc003yja.1_In_Frame_Del_p.G92del|RGS22_uc003yjc.1_In_Frame_Del_p.G261del|RGS22_uc011lgz.1_Non-coding_Transcript|RGS22_uc010mbo.1_Non-coding_Transcript|RGS22_uc022azh.1_In_Frame_Del_p.G177del	NM_015668	NP_056483	Q8NE09	RGS22_HUMAN	Homo sapiens regulator of G-protein signaling 22 (RGS22), mRNA.	273	Poly-Glu.				negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity		RGS22/SYCP1(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			ttcttcttctccttcttcttctt	0.369												
RIMS2	9699	broad.mit.edu	37	8	104898446	104898446	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr8:104898445_104898445GA>G	uc003yls.3	+	1	1193	c.952_952GA>G	c.(952-954)gaafs	p.E318fs	RIMS2_uc003ylp.3_Frame_Shift_Del_p.E540fs|RIMS2_uc003ylw.2_Frame_Shift_Del_p.E348fs|RIMS2_uc003ylq.3_Frame_Shift_Del_p.E348fs|RIMS2_uc003ylr.3_Frame_Shift_Del_p.E348fs	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	Homo sapiens regulating synaptic membrane exocytosis 2 (RIMS2), transcript variant 2, mRNA.	571					intracellular protein transport	cell junction|presynaptic membrane	Rab GTPase binding|metal ion binding			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			GAGTGTAAGTGAAAAAGGTAA	0.343										HNSCC(12;0.0054)		
FER1L6	654463	broad.mit.edu	37	8	125080031	125080032	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr8:125080030_125080031G>GA	uc003yqw.3	+	27	3907_3908	c.3701_3702G>GA	c.(3700-3702)ggafs	p.G1234fs	AK057332_uc003yqy.1_Intron	NM_001039112	NP_001034201	Q2WGJ9	FR1L6_HUMAN	Homo sapiens fer-1-like 6 (C. elegans) (FER1L6), mRNA.	1234						integral to membrane				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			AATCCCAAGGGAAAAAAAGGCA	0.391												
UBAP2	55833	broad.mit.edu	37	9	33948391	33948397	+	Frame_Shift_Del	DEL	GGACTGG	GGACTGG	-			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr9:33948390_33948396AGGACTGG>A	uc003ztq.1	-	12	1359_1365	c.1246_1252CCAGTCCT>T	c.(1246-1254)cagtcctcafs	p.Q416fs	UBAP2_uc011loc.1_Frame_Shift_Del_p.Q325fs|UBAP2_uc011lod.1_Frame_Shift_Del_p.Q149fs|UBAP2_uc011loe.1_Frame_Shift_Del_p.Q171fs|UBAP2_uc011lof.1_Frame_Shift_Del_p.Q341fs|UBAP2_uc011log.1_Frame_Shift_Del_p.Q362fs|UBAP2_uc003ztr.2_Frame_Shift_Del_p.Q288fs|UBAP2_uc003zts.3_Frame_Shift_Del_p.Q49fs	NM_018449	NP_060919	Q5T6F2	UBAP2_HUMAN	Homo sapiens ubiquitin associated protein 2 (UBAP2), mRNA.	416										endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(13)|ovary(3)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(29;0.00575)	GBM - Glioblastoma multiforme(74;0.168)		CTGAGGACTGAGGACTGGGATGTTGGG	0.483												
C9orf80	58493	broad.mit.edu	37	9	115456516	115456516	+	Splice_Site	DEL	A	A	-			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr9:115456515_115456515TA>T	uc004bgg.3	-	3	203	c.26_splice	c.e3-1	p.G9_splice	C9orf80_uc010muk.3_Splice_Site	NM_021218	NP_067041	Q9NRY2	SOSSC_HUMAN	Homo sapiens chromosome 9 open reading frame 80 (C9orf80), mRNA.	9					DNA repair|response to ionizing radiation	SOSS complex	protein binding	p.?(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)	4						TTTGAAAACCTAAAAAAAAGA	0.348												
RABGAP1	23637	broad.mit.edu	37	9	125861042	125861043	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr9:125861041_125861042T>TA	uc011lzh.2	+	22	2915_2916	c.2781_2782T>TA	c.(2779-2784)attaaafs	p.I927fs	RABGAP1_uc004bnl.4_Non-coding_Transcript|RABGAP1_uc011lzj.2_Frame_Shift_Ins_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						AATCTGAGATTAAAAAAAACAG	0.396												
NUP214	8021	broad.mit.edu	37	9	134007993	134007994	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr9:134007992_134007993G>GA	uc004cag.3	+	5	784_785	c.673_674G>GA	c.(673-675)gaafs	p.E225fs	NUP214_uc004cah.3_Frame_Shift_Ins_p.E225fs|NUP214_uc004caf.1_Frame_Shift_Ins_p.E225fs	NM_005085	NP_005076	P35658	NU214_HUMAN	Homo sapiens nucleoporin 214kDa (NUP214), mRNA.	225					carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore|nucleoplasm	protein binding			NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)		GACTTTGCAGGAAAAAAAAGTC	0.361			T	"""DEK, SET, ABL1"""	"""AML, T-ALL"""							
BRD3	8019	broad.mit.edu	37	9	136918529	136918530	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr9:136918528_136918529C>CG	uc004cew.3	-	1	259_260	c.71_72G>CG	c.(70-72)ccgfs	p.P24fs	BRD3_uc004cex.2_Frame_Shift_Ins_p.P24fs	NM_007371	NP_031397	Q15059	BRD3_HUMAN	Homo sapiens bromodomain containing 3 (BRD3), mRNA.	24						nucleus	protein binding	p.P24fs*24(1)	BRD3/C15orf55(3)	kidney(1)|skin(1)|stomach(4)	6				OV - Ovarian serous cystadenocarcinoma(145;1.43e-08)|Epithelial(140;8.41e-08)|all cancers(34;5.21e-07)		TGGAGACCTCCGGGGGGGGTGG	0.658			T	C15orf55	lethal midline carcinoma of young people							
COL5A1	1289	broad.mit.edu	37	9	137693829	137693830	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr9:137693828_137693829G>GC	uc004cfe.3	+	37	3363_3364	c.2981_2982G>GC	c.(2980-2982)ggcfs	p.G994fs		NM_000093	NP_000084	P20908	CO5A1_HUMAN	Homo sapiens collagen, type V, alpha 1 (COL5A1), mRNA.	994	Triple-helical region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding	p.G997fs*17(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		GGCCCTCCAGGCCCCCCCGGCG	0.658												
OPTN	10133	broad.mit.edu	37	10	13151192	13151192	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr10:13151191_13151191AC>A	uc001ilu.1	+	3	507	c.69_69AC>A	c.(67-69)ggafs	p.G23fs	OPTN_uc001ilv.1_Frame_Shift_Del_p.G23fs|OPTN_uc001ilw.1_Frame_Shift_Del_p.G23fs|OPTN_uc001ilx.1_Frame_Shift_Del_p.G23fs|OPTN_uc001ily.1_Frame_Shift_Del_p.G23fs|OPTN_uc010qbr.1_5'UTR	NM_001008213	NP_068815	Q96CV9	OPTN_HUMAN	Homo sapiens optineurin (OPTN), transcript variant 4, mRNA.	23					Golgi ribbon formation|Golgi to plasma membrane protein transport|cell death|protein targeting to Golgi|signal transduction	perinuclear region of cytoplasm|trans-Golgi network	protein C-terminus binding			breast(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22						CAGGAAATGGACCCCCCCACC	0.562												
NDST2	8509	broad.mit.edu	37	10	75567575	75567576	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr10:75567574_75567575T>TA	uc001jvk.2	-	2	1376_1377	c.572_573A>TA	c.(571-573)ttafs	p.L191fs	NDST2_uc010qks.1_5'Flank|NDST2_uc010qkt.1_Frame_Shift_Ins_p.L68fs|NDST2_uc009xro.2_5'Flank|NDST2_uc010qku.1_Frame_Shift_Ins_p.L68fs	NM_003635	NP_003626	P52849	NDST2_HUMAN	Homo sapiens N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 2 (NDST2), mRNA.	191	Heparan sulfate N-deacetylase 2.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity	p.L191fs*12(2)		cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	30	Prostate(51;0.0112)					AGTTTGAGTGTAAAAAAAGGGG	0.589												
PANK1	53354	broad.mit.edu	37	10	91359120	91359120	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr10:91359119_91359119CT>C	uc001kgp.2	-	2	1470	c.1200_1200AG>G	c.(1198-1200)aagfs	p.K400fs	PANK1_uc001kgn.2_Frame_Shift_Del_p.K175fs|PANK1_uc001kgo.2_Frame_Shift_Del_p.K175fs|PANK1_uc009xtu.2_Frame_Shift_Del_p.K202fs	NM_148977	NP_683878	Q8TE04	PANK1_HUMAN	Homo sapiens pantothenate kinase 1 (PANK1), transcript variant alpha, mRNA.	400					coenzyme A biosynthetic process|pantothenate metabolic process	cytosol|nucleus	ATP binding|pantothenate kinase activity			cervix(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)	11					Bezafibrate(DB01393)	GGCAGTACGGCTTTTTTTGAC	0.433												
BTRC	8945	broad.mit.edu	37	10	103310573	103310573	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr10:103310572_103310572AC>A	uc001kta.3	+	13	1886	c.1773_1773AC>A	c.(1771-1773)gaafs	p.E591fs	BTRC_uc001ktb.3_Frame_Shift_Del_p.E555fs|BTRC_uc001ktc.3_Frame_Shift_Del_p.E565fs	NM_033637	NP_378663	Q9Y297	FBW1A_HUMAN	Homo sapiens beta-transducin repeat containing (BTRC), transcript variant 1, mRNA.	591					Wnt receptor signaling pathway|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|positive regulation of proteolysis|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein destabilization|viral reproduction	SCF ubiquitin ligase complex|cytosol|nucleus				endometrium(4)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	27		Colorectal(252;0.234)		Epithelial(162;1.05e-08)|all cancers(201;6.59e-07)		CCCAAGCTGAACCCCCCCGTT	0.433												
C10orf120	399814	broad.mit.edu	37	10	124457553	124457554	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr10:124457552_124457553G>GT	uc001lgn.3	-	2	736_737	c.704_705C>AC	c.(703-705)aacfs	p.N235fs		NM_001010912	NP_001010912	Q5SQS8	CJ120_HUMAN	Homo sapiens chromosome 10 open reading frame 120 (C10orf120), mRNA.	235										endometrium(1)|kidney(1)|large_intestine(6)|lung(9)|skin(2)|stomach(1)|urinary_tract(1)	21		all_neural(114;0.169)|Glioma(114;0.222)				GTCTTTTTGTGTTTTTTCCCTC	0.371												
SYT8	90019	broad.mit.edu	37	11	1857151	1857151	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr11:1857150_1857150CG>C	uc001lue.1	+	3	463	c.335_335CG>C	c.(334-336)ccgfs	p.P112fs	SYT8_uc010qxb.1_Frame_Shift_Del_p.P98fs|SYT8_uc001lud.2_Frame_Shift_Del_p.P112fs	NM_138567	NP_612634	Q8NBV8	SYT8_HUMAN	Homo sapiens synaptotagmin VIII (SYT8), mRNA.	112						acrosomal vesicle|integral to membrane|plasma membrane|synaptic vesicle	transporter activity			breast(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	6		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		GAGTCCAGCCCGGGGGATGCT	0.642												
ART1	417	broad.mit.edu	37	11	3681478	3681478	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr11:3681477_3681477TC>T	uc001lye.1	+	2	829	c.728_728TC>T	c.(727-729)atcfs	p.I243fs	ART1_uc009yeb.1_Frame_Shift_Del_p.I243fs	NM_004314	NP_004305	P52961	NAR1_HUMAN	Homo sapiens ADP-ribosyltransferase 1 (ART1), mRNA.	243					protein ADP-ribosylation	anchored to membrane|integral to plasma membrane|sarcoplasmic reticulum membrane	NAD(P)+-protein-arginine ADP-ribosyltransferase activity|NAD+ ADP-ribosyltransferase activity			endometrium(1)|large_intestine(2)|liver(1)|lung(3)|skin(1)	8		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0351)|LUSC - Lung squamous cell carcinoma(625;0.195)	Becaplermin(DB00102)	GAGGTGCTGATCCCCCCCTTT	0.612												
SMTNL1	219537	broad.mit.edu	37	11	57310316	57310317	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr11:57310315_57310316A>AG	uc021qjh.1	+	0	202_203	c.200_201A>AG	c.(199-201)cagfs	p.Q67fs		NM_001105565	NP_001099035	E9PPJ3	E9PPJ3_HUMAN	Homo sapiens smoothelin-like 1 (SMTNL1), mRNA.	67								p.T66I(1)		endometrium(2)|large_intestine(1)|lung(4)|ovary(1)	8						GCAGAACTCCAGGGGGAAGCAA	0.535												
ZFP91	80829	broad.mit.edu	37	11	58377810	58377811	+	Splice_Site	INS	-	-	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr11:58377809_58377810T>TA	uc001nmx.4	+	4	785	c.617_splice	c.e4+2	p.S206_splice	ZFP91_uc001nmy.4_Splice_Site_p.S206_splice|CNTF_uc010rkm.2_Splice_Site	NM_053023	NP_444251	Q96JP5	ZFP91_HUMAN	Homo sapiens zinc finger protein 91 homolog (mouse) (ZFP91), transcript variant 1, mRNA.	206	Glu-rich.			Missing (in Ref. 4; AAH51743).	activation of NF-kappaB-inducing kinase activity|protein K63-linked ubiquitination	nucleus	nucleic acid binding|ubiquitin-protein ligase activity|zinc ion binding			cervix(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	26		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)				TGGCATTAGGTAAAAAAAACAT	0.312												
YIF1A	10897	broad.mit.edu	37	11	66055105	66055105	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr11:66055104_66055104CG>C	uc001ohk.4	-	3	574	c.392_392CG>G	c.(391-393)cggfs	p.R131fs	YIF1A_uc009yrc.3_Frame_Shift_Del_p.R96fs	NM_020470	NP_065203	O95070	YIF1A_HUMAN	Homo sapiens Yip1 interacting factor homolog A (S. cerevisiae) (YIF1A), mRNA.	131					protein transport|vesicle-mediated transport	ER-Golgi intermediate compartment|Golgi membrane|centrosome|endoplasmic reticulum membrane|integral to membrane		p.R131L(2)|p.P130P(1)|p.P130R(1)		endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|skin(2)|stomach(1)	9						GAGGTCTTGCCGGGGGGGCAG	0.622												
INPPL1	3636	broad.mit.edu	37	11	71948209	71948209	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr11:71948208_71948208GC>G	uc001osf.3	+	25	3067	c.2920_2920GC>G	c.(2920-2922)gccfs	p.A974fs	INPPL1_uc001osg.3_Frame_Shift_Del_p.A732fs	NM_001567	NP_001558	O15357	SHIP2_HUMAN	Homo sapiens inositol polyphosphate phosphatase-like 1 (INPPL1), mRNA.	974	Pro-rich.				actin filament organization|cell adhesion|endocytosis	actin cortical patch|cytosol	SH2 domain binding|SH3 domain binding|actin binding	p.P977fs*7(1)		breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						AGGGGTGGCGGCCCCCCCACC	0.632												
ARHGEF17	9828	broad.mit.edu	37	11	73021527	73021527	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr11:73021526_73021526GC>G	uc001otu.3	+	0	1864	c.1843_1843GC>G	c.(1843-1845)gccfs	p.A615fs		NM_014786	NP_055601	Q96PE2	ARHGH_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 17 (ARHGEF17), mRNA.	615					actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						TGGAAGCGATGCCCCCCCTGG	0.617												
FAT3	120114	broad.mit.edu	37	11	92258089	92258090	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr11:92258088_92258089A>AT	uc001pdj.4	+	1	3598_3599	c.3581_3582A>AT	c.(3580-3582)aatfs	p.N1194fs		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	1194	Cadherin 11.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				AATCCTCAGAATTTTTTTGCCA	0.381										TCGA Ovarian(4;0.039)		
PGR	5241	broad.mit.edu	37	11	100962610	100962610	+	Splice_Site	DEL	A	A	-			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr11:100962609_100962609TA>T	uc001pgh.2	-	3	2533	c.1790_splice	c.e3-1	p.G597_splice	PGR_uc001pgi.2_Splice_Site_p.G597_splice|PGR_uc009yww.1_Splice_Site|PGR_uc001pgj.2_Splice_Site|PGR_uc009ywx.1_Intron	NM_000926	NP_000917	P06401	PRGR_HUMAN	Homo sapiens progesterone receptor (PGR), transcript variant 2, mRNA.	597					cell-cell signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	enzyme binding|receptor binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	36		Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014)		LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164)	Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Mifepristone(DB00834)|Norethindrone(DB00717)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)	TGTGCTGCCCTAAAAAAACAA	0.378												
DYNC2H1	79659	broad.mit.edu	37	11	102984302	102984302	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr11:102984301_102984301GT>G	uc001phn.1	+	1	375	c.231_231GT>G	c.(229-231)gtgfs	p.V77fs	DYNC2H1_uc009yxe.1_Frame_Shift_Del_p.V77fs|DYNC2H1_uc001pho.2_Frame_Shift_Del_p.V77fs	NM_001080463	NP_001073932	Q8NCM8	DYHC2_HUMAN	Homo sapiens dynein, cytoplasmic 2, heavy chain 1 (DYNC2H1), transcript variant 2, mRNA.	77	Stem (By similarity).				Golgi organization|cell projection organization|microtubule-based movement|multicellular organismal development	Golgi apparatus|cilium axoneme|dynein complex|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		AAGTGCTGGTGTTTTTCAAGC	0.294												
BCL9L	283149	broad.mit.edu	37	11	118770652	118770653	+	Frame_Shift_Ins	INS	-	-	G	rs139987150		TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr11:118770651_118770652T>TG	uc001pug.3	-	6	4345_4346	c.3380_3381A>CA	c.(3379-3381)ccafs	p.P1127fs	BCL9L_uc009zal.3_Frame_Shift_Ins_p.P1122fs	NM_182557	NP_872363	Q86UU0	BCL9L_HUMAN	Homo sapiens B-cell CLL/lymphoma 9-like (BCL9L), mRNA.	1127	Pro-rich.				negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		transcription coactivator activity			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	56	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)		GCGGTGGTGGTGGGGGGGGCAG	0.703												
CCDC153	283152	broad.mit.edu	37	11	119061043	119061044	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr11:119061042_119061043A>AG	uc010rze.2	-	6	813_814	c.599_600T>CT	c.(598-600)cctfs	p.P200fs		NM_001145018	NP_001138490	Q494R4	CC153_HUMAN	Homo sapiens coiled-coil domain containing 153 (CCDC153), mRNA.	200										lung(3)|stomach(1)	4						TCAAAGATCCAGGGGGGGTGAG	0.569												
TBCEL	219899	broad.mit.edu	37	11	120930797	120930798	+	Splice_Site	INS	-	-	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr11:120930796_120930797T>TA	uc001pxo.3	+	7	1161	c.956_splice	c.e7+2	p.R319_splice	TBCEL_uc009zay.3_Splice_Site_p.R319_splice|TBCEL_uc001pxp.3_Splice_Site_p.R175_splice|TBCEL_uc001pxq.3_Splice_Site	NM_152715	NP_689928	Q5QJ74	TBCEL_HUMAN	Homo sapiens tubulin folding cofactor E-like (TBCEL), transcript variant 1, mRNA.	319						cytoplasm|cytoskeleton			TECTA/TBCEL(2)	endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14		Breast(109;0.00526)|Medulloblastoma(222;0.0523)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;5.89e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.121)		GCCATTCAGGTAAAAAATTCCC	0.391												
TAS2R14	50840	broad.mit.edu	37	12	11091566	11091567	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr12:11091565_11091566A>AT	uc010shi.2	-	0	241_242	c.241_242T>AT	c.(241-243)atgfs	p.M81fs	PRH1_uc001qzb.4_Intron|TAS2R14_uc021qve.1_Intron|PRH1_uc021qvg.1_Intron|PRB4_uc001qzf.1_Intron|TAS2R14_uc001qzj.3_Intron	NM_023922	NP_076411	Q9NYV8	T2R14_HUMAN	Homo sapiens taste receptor, type 2, member 14 (TAS2R14), mRNA.	81					detection of chemical stimulus involved in sensory perception of bitter taste		bitter taste receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	8						CATTCTGAACATTTTTTCAGTG	0.391												
ATF7IP	55729	broad.mit.edu	37	12	14577802	14577803	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr12:14577801_14577802G>GA	uc001rbw.3	+	1	1110_1111	c.952_953G>GA	c.(952-954)gaafs	p.E318fs	ATF7IP_uc010shs.1_Frame_Shift_Ins_p.E318fs|ATF7IP_uc001rbu.3_Frame_Shift_Ins_p.E318fs|ATF7IP_uc001rbv.1_Frame_Shift_Ins_p.E318fs|ATF7IP_uc001rbx.3_Frame_Shift_Ins_p.E318fs|ATF7IP_uc010sht.1_Frame_Shift_Ins_p.E318fs|ATF7IP_uc001rby.4_Frame_Shift_Ins_p.E318fs|ATF7IP_uc001rbz.1_Frame_Shift_Ins_p.E318fs|ATF7IP_uc001rca.3_Frame_Shift_Ins_p.E318fs|ATF7IP_uc001rcb.3_5'Flank	NM_018179	NP_060649	Q6VMQ6	MCAF1_HUMAN	Homo sapiens activating transcription factor 7 interacting protein (ATF7IP), mRNA.	318					DNA methylation|interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|regulation of RNA polymerase II transcriptional preinitiation complex assembly|transcription, DNA-dependent		protein binding			cervix(1)|endometrium(7)|kidney(5)|large_intestine(10)|liver(2)|lung(22)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	54						TGATTTTCTTGAAAAAAATGGA	0.317												
OR6C70	390327	broad.mit.edu	37	12	55863619	55863620	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr12:55863618_55863619T>TA	uc010spn.2	-	0	304_305	c.304_305A>TA	c.(304-306)tacfs	p.Y102fs		NM_001005499	NP_001005499	A6NIJ9	O6C70_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 70 (OR6C70), mRNA.	102					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	18						CAAGAATATGTAAAAAAACAAC	0.391												
GLI1	2735	broad.mit.edu	37	12	57860075	57860075	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr12:57860074_57860074TG>T	uc001snx.3	+	7	908	c.814_814TG>T	c.(814-816)tggfs	p.W272fs	GLI1_uc021qzi.1_Frame_Shift_Del_p.W231fs|GLI1_uc009zpq.3_Frame_Shift_Del_p.W144fs	NM_005269	NP_001153517	P08151	GLI1_HUMAN	Homo sapiens GLI family zinc finger 1 (GLI1), transcript variant 1, mRNA.	272					epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69			GBM - Glioblastoma multiforme(3;3.99e-32)			CGTGTGCCACTGGGGGGGCTG	0.597												
MBD6	114785	broad.mit.edu	37	12	57921401	57921402	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr12:57921400_57921401A>AC	uc001soj.1	+	7	2417_2418	c.2193_2194A>AC	c.(2191-2196)agacccfs	p.R731fs	MBD6_uc001sok.1_Frame_Shift_Ins_p.R598fs|MBD6_uc001sol.1_Non-coding_Transcript	NM_052897	NP_443129	Q96DN6	MBD6_HUMAN	Homo sapiens methyl-CpG binding domain protein 6 (MBD6), mRNA.	731	Pro-rich.					chromosome|nucleus	DNA binding|chromatin binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|urinary_tract(1)	31						ACTCAGGGAGACCCCCCCAACT	0.599												
MBD6	114785	broad.mit.edu	37	12	57921732	57921733	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr12:57921731_57921732T>TG	uc001soj.1	+	8	2561_2562	c.2337_2338T>TG	c.(2335-2340)cctgggfs	p.P779fs	MBD6_uc001sok.1_Frame_Shift_Ins_p.P646fs|MBD6_uc001sol.1_Non-coding_Transcript	NM_052897	NP_443129	Q96DN6	MBD6_HUMAN	Homo sapiens methyl-CpG binding domain protein 6 (MBD6), mRNA.	779	Pro-rich.					chromosome|nucleus	DNA binding|chromatin binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|urinary_tract(1)	31						AGCTCCTCCCTGGGGGGGGAGC	0.629												
USP15	9958	broad.mit.edu	37	12	62786091	62786091	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr12:62786090_62786090TA>T	uc001src.2	+	17	2418	c.2343_2343TA>T	c.(2341-2343)cctfs	p.P781fs	USP15_uc001srb.2_Frame_Shift_Del_p.P752fs	NM_001252078	NP_001239007	Q9Y4E8	UBP15_HUMAN	Homo sapiens ubiquitin specific peptidase 15 (USP15), transcript variant 1, mRNA.	781					protein deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(15)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	37			GBM - Glioblastoma multiforme(1;0.000276)	GBM - Glioblastoma multiforme(28;0.0622)		ATAAACCTCCTAAAAAACCCT	0.303												
CUX2	23316	broad.mit.edu	37	12	111785948	111785949	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr12:111785947_111785948G>GC	uc001tsa.2	+	21	4433_4434	c.4279_4280G>GC	c.(4279-4281)gccfs	p.A1427fs		NM_015267	NP_056082	O14529	CUX2_HUMAN	Homo sapiens cut-like homeobox 2 (CUX2), mRNA.	1427	Pro-rich.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.A1427T(2)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						CCCACCTGGCGCCCCCCCTGCC	0.658												
PIWIL1	9271	broad.mit.edu	37	12	130855728	130855729	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr12:130855727_130855728C>CT	uc001uik.3	+	19	2599_2600	c.2328_2329C>CT	c.(2326-2331)gactttfs	p.D776fs	PIWIL1_uc001uij.2_Frame_Shift_Ins_p.D776fs	NM_004764	NP_004755	Q96J94	PIWL1_HUMAN	Homo sapiens piwi-like 1 (Drosophila) (PIWIL1), transcript variant 1, mRNA.	776	Piwi.				gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatid development	P granule|chromatoid body	mRNA binding|piRNA binding|protein binding			breast(6)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(26)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	57	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)		CCAGGTATGACTTTTTTATCGT	0.436												
WASF3	10810	broad.mit.edu	37	13	27246074	27246075	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr13:27246073_27246074G>GA	uc001uqv.3	+	5	712_713	c.487_488G>GA	c.(487-489)gaafs	p.E163fs	WASF3_uc001uqw.3_Frame_Shift_Ins_p.E163fs	NM_006646	NP_006637	Q9UPY6	WASF3_HUMAN	Homo sapiens WAS protein family, member 3 (WASF3), mRNA.	163					actin filament polymerization	cytoplasm|cytoskeleton	actin binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|pancreas(1)|prostate(2)|skin(2)	22	Colorectal(5;0.000247)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.0114)|Epithelial(112;0.046)|OV - Ovarian serous cystadenocarcinoma(117;0.0547)|Lung(94;0.105)|LUSC - Lung squamous cell carcinoma(192;0.155)		CCTCTGGAAAGAAAAAATGCTA	0.371												
ZC3H13	23091	broad.mit.edu	37	13	46543398	46543399	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr13:46543397_46543398A>AG	uc010tfw.1	-	12	3287_3288	c.3281_3282T>CT	c.(3280-3282)cctfs	p.P1094fs	ZC3H13_uc001vaq.2_5'Flank|ZC3H13_uc001vas.1_Frame_Shift_Ins_p.P1094fs|ZC3H13_uc001vat.1_Frame_Shift_Ins_p.P1094fs	NM_015070	NP_055885	Q5T200	ZC3HD_HUMAN	Homo sapiens zinc finger CCCH-type containing 13 (ZC3H13), mRNA.	1094							nucleic acid binding|zinc ion binding			cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|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;4.18e-05)		ATAGAGGAGAAGGGGTACTACC	0.559												
ITM2B	9445	broad.mit.edu	37	13	48830433	48830434	+	In_Frame_Ins	INS	-	-	GAA			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr13:48830432_48830433T>TGAA	uc001vbz.3	+	2	589_590	c.366_367T>TGAA	c.(364-369)tttgaa>ttTGAAaa	p.122_123FE>FE		NM_021999	NP_068839	Q9Y287	ITM2B_HUMAN	Homo sapiens integral membrane protein 2B (ITM2B), mRNA.	122					nervous system development	Golgi membrane|integral to membrane|nucleus|plasma membrane	beta-amyloid binding	p.I121I(1)		endometrium(1)|large_intestine(2)|lung(3)	6		all_cancers(8;2.2e-31)|all_epithelial(8;6.77e-15)|all_lung(13;9.67e-07)|all_hematologic(8;9.72e-06)|Lung NSC(96;8.3e-05)|Breast(56;0.000141)|Acute lymphoblastic leukemia(8;0.00045)|Prostate(109;0.000669)|Myeloproliferative disorder(33;0.039)|Hepatocellular(98;0.0556)|Lung SC(185;0.102)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(144;1.97e-06)		TTAAAATCTTTGAAGAAGAAGA	0.401												
EDNRB	1910	broad.mit.edu	37	13	78474004	78474004	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr13:78474003_78474003GT>G	uc001vkp.1	-	6	1608	c.1455_1455AC>C	c.(1453-1455)aacfs	p.N485fs	EDNRB_uc001vkq.1_Frame_Shift_Del_p.N395fs|BC031243_uc001vkn.1_Intron|EDNRB_uc001vko.2_Frame_Shift_Del_p.N395fs|EDNRB_uc010aez.1_Frame_Shift_Del_p.N395fs	NM_001201397	NP_001188326	P24530	EDNRB_HUMAN	Homo sapiens endothelin receptor type B (EDNRB), transcript variant 4, mRNA.	395					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|enteric nervous system development|enteric smooth muscle cell differentiation|macrophage chemotaxis|negative regulation of adenylate cyclase activity|negative regulation of cellular protein metabolic process|negative regulation of neuron maturation|negative regulation of transcription from RNA polymerase II promoter|vein smooth muscle contraction	integral to plasma membrane	endothelin-B receptor activity|peptide hormone binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(18)|lung(16)|skin(3)	42		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0933)	Bosentan(DB00559)	CCTTAAAGCAGTTTTTGAATC	0.338												
CBLN3	643866	broad.mit.edu	37	14	24898055	24898055	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr14:24898054_24898054AG>A	uc001wpg.4	-	0	678	c.207_207CT>T	c.(205-207)cctfs	p.P69fs	KHNYN_uc010tpc.2_5'Flank|KHNYN_uc001wph.4_5'Flank|KHNYN_uc010alw.3_5'Flank	NM_001039771	NP_001034860	Q6UW01	CBLN3_HUMAN	Homo sapiens cerebellin 3 precursor (CBLN3), mRNA.	69	C1q.					cell junction|extracellular region|synapse				central_nervous_system(1)|lung(3)	4				GBM - Glioblastoma multiforme(265;0.00159)		CCACTCGCCCAGGGGGTGCCT	0.682												
EML5	161436	broad.mit.edu	37	14	89082574	89082575	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr14:89082573_89082574C>CT	uc021ryf.1	-	41	6058_6059	c.5809_5810G>AG	c.(5809-5811)aggfs	p.R1937fs	EML5_uc001xxf.3_Frame_Shift_Ins_p.R724fs|EML5_uc021ryg.1_Frame_Shift_Ins_p.R1937fs|EML5_uc001xxd.3_Frame_Shift_Ins_p.R102fs|EML5_uc001xxe.3_Frame_Shift_Ins_p.R286fs	NM_183387	NP_899243	Q05BV3	EMAL5_HUMAN	Homo sapiens echinoderm microtubule associated protein like 5 (EML5), mRNA.	1929						cytoplasm|microtubule				breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						ACCCAAGAACCTTTTGTGTTTT	0.416												
CLMN	79789	broad.mit.edu	37	14	95669231	95669231	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr14:95669230_95669230TG>T	uc001yef.2	-	8	2572	c.2456_2456CA>A	c.(2455-2457)catfs	p.H819fs		NM_024734	NP_079010	Q96JQ2	CLMN_HUMAN	Homo sapiens calmin (calponin-like, transmembrane) (CLMN), mRNA.	819						integral to membrane	actin binding			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(17)|prostate(3)|skin(3)	44				Epithelial(152;0.193)		GTGGTCCTCATGGGGGGCCAG	0.612												
HERC2	8924	broad.mit.edu	37	15	28474843	28474844	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr15:28474842_28474843A>AT	uc001zbj.3	-	31	5066_5067	c.4960_4961T>AT	c.(4960-4962)atgfs	p.M1654fs		NM_004667	NP_004658	O95714	HERC2_HUMAN	Homo sapiens hect domain and RLD 2 (HERC2), mRNA.	1654					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			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		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)		GCACTTTCTCATTTTTTCCACA	0.396												
MFAP1	4236	broad.mit.edu	37	15	44106834	44106835	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr15:44106833_44106834A>AT	uc001zth.1	-	3	666_667	c.482_483T>AT	c.(481-483)aatfs	p.N161fs		NM_005926	NP_005917	P55081	MFAP1_HUMAN	Homo sapiens microfibrillar-associated protein 1 (MFAP1), mRNA.	161						microfibril				breast(2)|endometrium(1)|kidney(1)|lung(6)|skin(2)|upper_aerodigestive_tract(3)	15		all_cancers(109;7.57e-15)|all_epithelial(112;3.51e-12)|Lung NSC(122;4.72e-08)|all_lung(180;4.9e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.33e-07)		CCATCTCTTCATTTTTTCTCTC	0.460												
WDR90	197335	broad.mit.edu	37	16	715973	715973	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr16:715972_715972GC>G	uc002cii.1	+	35	4511	c.4457_4457GC>G	c.(4456-4458)agcfs	p.S1486fs	WDR90_uc002cij.1_Intron|WDR90_uc002cil.1_Non-coding_Transcript|WDR90_uc002cin.1_Frame_Shift_Del_p.S101fs|WDR90_uc002cio.1_Frame_Shift_Del_p.S85fs|WDR90_uc010bqx.1_Frame_Shift_Del_p.S85fs|RHOT2_uc010uum.2_5'Flank|RHOT2_uc002cip.3_5'Flank|RHOT2_uc002ciq.3_5'Flank	NM_145294	NP_660337	Q96KV7	WDR90_HUMAN	Homo sapiens WD repeat domain 90 (WDR90), mRNA.	1486										endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37		Hepatocellular(780;0.0218)				CTGGCATGGAGCCCCCCGTGC	0.692												
C16orf42	115939	broad.mit.edu	37	16	1399497	1399497	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr16:1399496_1399496GC>G	uc002cll.3	-	5	949	c.881_881GC>C	c.(880-882)gctfs	p.A294fs	GNPTG_uc002clm.3_5'Flank	NM_001001410	NP_001001410	Q9UJK0	TSR3_HUMAN	Homo sapiens chromosome 16 open reading frame 42 (C16orf42), mRNA.	294					rRNA processing					endometrium(1)|kidney(1)|lung(2)	4		Hepatocellular(780;0.0893)				CCTGGCCTCAGCCCCCCGTCC	0.602												
TRAF7	84231	broad.mit.edu	37	16	2225924	2225927	+	Frame_Shift_Del	DEL	TGTC	TGTC	-			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr16:2225923_2225926TTGTC>T	uc002cow.3	+	17	1814_1817	c.1715_1718TTGTC>T	c.(1714-1719)attgtcfs	p.I572fs		NM_032271	NP_115647	Q6Q0C0	TRAF7_HUMAN	Homo sapiens TNF receptor-associated factor 7 (TRAF7), mRNA.	572					activation of MAPKKK activity|apoptosis|regulation of apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic membrane-bounded vesicle|ubiquitin ligase complex	identical protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	23						AATCACCACATTGTCTGTGGCACC	0.564												
AMDHD2	51005	broad.mit.edu	37	16	2578619	2578620	+	Frame_Shift_Ins	INS	-	-	C	rs142686134		TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr16:2578618_2578619A>AC	uc010uwc.2	+	7	1125_1126	c.1028_1029A>AC	c.(1027-1029)gacfs	p.D343fs	AMDHD2_uc002cqp.3_Frame_Shift_Ins_p.D343fs|AMDHD2_uc002cqq.3_Intron|AMDHD2_uc010uwd.2_Frame_Shift_Ins_p.D107fs	NM_001145815	NP_001139287	Q9Y303	NAGA_HUMAN	Homo sapiens amidohydrolase domain containing 2 (AMDHD2), transcript variant 2, mRNA.	323					N-acetylglucosamine metabolic process		N-acetylglucosamine-6-phosphate deacetylase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(3)|skin(2)|urinary_tract(2)	19						GTGGCCCACGACCCCCCCAGAG	0.663												
GLYR1	84656	broad.mit.edu	37	16	4862229	4862230	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr16:4862228_4862229G>GC	uc002cxx.4	-	12	1177_1178	c.1140_1141C>GC	c.(1138-1143)gggcgcfs	p.G380fs	GLYR1_uc002cxy.3_Non-coding_Transcript|GLYR1_uc002cxz.1_Frame_Shift_Ins_p.G294fs|GLYR1_uc002cya.2_Frame_Shift_Ins_p.G374fs|GLYR1_uc010uxv.1_Frame_Shift_Ins_p.G299fs	NM_032569	NP_115958	Q49A26	GLYR1_HUMAN	Homo sapiens glyoxylate reductase 1 homolog (Arabidopsis) (GLYR1), mRNA.	380					pentose-phosphate shunt	nucleus	DNA binding|coenzyme binding|methylated histone residue binding|phosphogluconate dehydrogenase (decarboxylating) activity	p.R381fs*15(2)|p.G379R(1)		endometrium(1)|kidney(1)|large_intestine(7)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	19						TCCAGAAAGCGCCCCCCCCTGG	0.574												
ABCC1	4363	broad.mit.edu	37	16	16165587	16165588	+	Splice_Site	INS	-	-	GT			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr16:16165586_16165587G>GGT	uc010bvi.3	+	14	2087	c.1912_splice	c.e14+1	p.G638_splice	ABCC1_uc010bvj.3_Splice_Site_p.G638_splice|ABCC1_uc010bvk.3_Splice_Site_p.G638_splice|ABCC1_uc010bvl.3_Splice_Site_p.G638_splice|ABCC1_uc010bvm.3_Splice_Site_p.G638_splice|ABCC1_uc002del.4_Splice_Site_p.G522_splice|ABCC1_uc021tdq.1_Intron|ABCC1_uc021tdr.1_Splice_Site_p.G95_splice	NM_004996	NP_004987	P33527	MRP1_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 1 (ABCC1), transcript variant 1, mRNA.	638					hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug	Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3)	56					Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)	TGTCAAAGACGGTGTGTGTGTG	0.569												
GPR139	124274	broad.mit.edu	37	16	20043389	20043390	+	Frame_Shift_Ins	INS	-	-	G	rs140063049	byFrequency	TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr16:20043388_20043389C>CG	uc002dgu.1	-	1	892_893	c.730_731G>CG	c.(730-732)cgcfs	p.R244fs	GPR139_uc010vaw.1_Frame_Shift_Ins_p.R151fs	NM_001002911	NP_001002911	Q6DWJ6	GP139_HUMAN	Homo sapiens G protein-coupled receptor 139 (GPR139), mRNA.	244						integral to membrane|plasma membrane				autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	30						CATGATGATGCGGGGGGCCCAA	0.545												
ACSM2B	348158	broad.mit.edu	37	16	20556548	20556548	+	Frame_Shift_Del	DEL	G	G	-	rs146499503		TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr16:20556547_20556547CG>C	uc002dhj.4	-	10	1423	c.1213_1213CG>G	c.(1213-1215)ggcfs	p.G405fs	ACSM2B_uc002dhk.4_Frame_Shift_Del_p.G405fs|ACSM2B_uc010bwf.1_Frame_Shift_Del_p.G405fs	NM_182617	NP_872423	Q68CK6	ACS2B_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 2B (ACSM2B), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	405					fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|CoA-ligase activity|butyrate-CoA ligase activity|metal ion binding			breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						CCTTCTGTGCCGGGGGGCAGG	0.517												
ERN2	10595	broad.mit.edu	37	16	23718096	23718096	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr16:23718095_23718095CG>C	uc002dma.4	-	5	780	c.611_611CG>G	c.(610-612)cgcfs	p.R204fs	ERN2_uc010bxp.3_Frame_Shift_Del_p.R204fs|ERN2_uc010bxq.1_Frame_Shift_Del_p.R12fs	NM_033266	NP_150296	Q76MJ5	ERN2_HUMAN	Homo sapiens endoplasmic reticulum to nucleus signaling 2 (ERN2), mRNA.	156					apoptosis|induction of apoptosis|mRNA processing|negative regulation of transcription, DNA-dependent|rRNA catabolic process|transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein serine/threonine kinase activity			large_intestine(2)|lung(2)|ovary(2)	6				GBM - Glioblastoma multiforme(48;0.0156)		AATGTAGAGGCGGGGGGTGGA	0.607												
ARHGAP17	55114	broad.mit.edu	37	16	24942337	24942337	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr16:24942336_24942336TG>T	uc002dnb.3	-	18	2377	c.2284_2284CA>A	c.(2284-2286)agtfs	p.S762fs	ARHGAP17_uc002dmw.3_Frame_Shift_Del_p.S24fs|ARHGAP17_uc002dmy.3_Frame_Shift_Del_p.S207fs|ARHGAP17_uc002dmz.3_Frame_Shift_Del_p.S286fs|ARHGAP17_uc002dna.3_Frame_Shift_Del_p.S489fs|ARHGAP17_uc002dnc.3_Frame_Shift_Del_p.S684fs|ARHGAP17_uc010vcf.2_Frame_Shift_Del_p.S505fs	NM_001006634	NP_001006635	Q68EM7	RHG17_HUMAN	Homo sapiens Rho GTPase activating protein 17 (ARHGAP17), transcript variant 1, mRNA.	762	Pro-rich.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|tight junction	GTPase activator activity|SH3 domain binding			breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|urinary_tract(2)	30				GBM - Glioblastoma multiforme(48;0.0407)		GGCGGAGTACTGGGGGGCGTT	0.607												
SH2B1	25970	broad.mit.edu	37	16	28883208	28883209	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr16:28883207_28883208G>GC	uc002dri.3	+	7	1855_1856	c.1416_1417G>GC	c.(1414-1419)ttgcccfs	p.L472fs	NPIPL1_uc010vct.2_Intron|SH2B1_uc010vdc.2_Frame_Shift_Ins_p.L162fs|SH2B1_uc002drj.3_Frame_Shift_Ins_p.L472fs|SH2B1_uc002drk.3_Frame_Shift_Ins_p.L472fs|SH2B1_uc002drl.3_Frame_Shift_Ins_p.L472fs|SH2B1_uc010vdd.2_Frame_Shift_Ins_p.L136fs|SH2B1_uc010vde.2_Frame_Shift_Ins_p.L472fs|SH2B1_uc002drm.3_Frame_Shift_Ins_p.L472fs	NM_001145795	NP_001139267	Q9NRF2	SH2B1_HUMAN	Homo sapiens SH2B adaptor protein 1 (SH2B1), transcript variant 1, mRNA.	472	Interaction with JAK2 (low-affinity binding; independent of JAK2 phosphorylation) (By similarity).				blood coagulation|intracellular signal transduction	cytosol|membrane|nucleus	signal transducer activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25						CCCCAGAGTTGCCCCCCCGCAT	0.629												
SRCAP	10847	broad.mit.edu	37	16	30727398	30727398	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr16:30727397_30727397CT>C	uc002dze.1	+	16	2889	c.2504_2504CT>C	c.(2503-2505)cctfs	p.P835fs	SRCAP_uc021tgn.1_Frame_Shift_Del_p.P835fs|SRCAP_uc002dzf.3_Non-coding_Transcript|SRCAP_uc002dzg.1_Frame_Shift_Del_p.P692fs	NM_006662	NP_006653	Q6ZRS2	SRCAP_HUMAN	Homo sapiens Snf2-related CREBBP activator protein (SRCAP), mRNA.	835					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)			GTTTTGAGGCCTTTTTTACTG	0.502												
SPG7	6687	broad.mit.edu	37	16	89616910	89616910	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr16:89616909_89616909CA>C	uc002fnj.3	+	12	1692	c.1671_1671CA>C	c.(1669-1671)gccfs	p.A557fs	SPG7_uc002fnk.1_Non-coding_Transcript|SPG7_uc002fnl.3_5'UTR	NM_003119	NP_003110	Q9UQ90	SPG7_HUMAN	Homo sapiens spastic paraplegia 7 (pure and complicated autosomal recessive) (SPG7), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	557					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			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|urinary_tract(1)	20		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)		CAGGGACTGCCAAAAAGAGCA	0.607												
RPH3AL	9501	broad.mit.edu	37	17	63688	63689	+	Frame_Shift_Ins	INS	-	-	G	rs138540198		TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr17:63687_63688C>CG	uc002fre.2	-	9	1246_1247	c.903_904G>CG	c.(901-906)cccgctfs	p.P301fs	RPH3AL_uc010vpy.2_Frame_Shift_Ins_p.R252fs|RPH3AL_uc021tmx.1_Frame_Shift_Ins_p.P301fs|RPH3AL_uc002frf.2_Frame_Shift_Ins_p.P272fs|RPH3AL_uc010cjl.2_Frame_Shift_Ins_p.P272fs	NM_006987	NP_008918	Q9UNE2	RPH3L_HUMAN	Homo sapiens rabphilin 3A-like (without C2 domains) (RPH3AL), transcript variant 1, mRNA.	301					exocytosis|intracellular protein transport	transport vesicle membrane	Rab GTPase binding|cytoskeletal protein binding|zinc ion binding			NS(2)|breast(1)|kidney(1)|large_intestine(1)|skin(1)	6				UCEC - Uterine corpus endometrioid carcinoma (25;0.023)|all cancers(1;4.96e-06)|Epithelial(1;2.86e-05)|BRCA - Breast invasive adenocarcinoma(1;0.00453)|OV - Ovarian serous cystadenocarcinoma(1;0.0716)|LUAD - Lung adenocarcinoma(1115;0.102)|COAD - Colon adenocarcinoma(4;0.107)		GCGTCAGCAGCGGGGGCTCGTC	0.639												
SPAG7	9552	broad.mit.edu	37	17	4864151	4864151	+	Splice_Site	DEL	G	G	-			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr17:4864150_4864150TG>T	uc002gae.3	-	2	119	c.86_splice	c.e2-1	p.E29_splice	SPAG7_uc002gaf.3_Splice_Site_p.E29_splice	NM_004890	NP_004881	O75391	SPAG7_HUMAN	Homo sapiens sperm associated antigen 7 (SPAG7), mRNA.	29						nucleus	nucleic acid binding|protein binding			central_nervous_system(1)|endometrium(1)|kidney(2)|lung(3)|ovary(2)|urinary_tract(1)	10						CGGCCTGTTCTGGGGGTGAGA	0.512												
FXR2	9513	broad.mit.edu	37	17	7496122	7496123	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr17:7496121_7496122T>TG	uc002gia.2	-	13	1984_1985	c.1619_1620A>CA	c.(1618-1620)ccafs	p.P540fs	SOX15_uc002ghy.1_5'Flank|SOX15_uc002ghz.1_5'Flank	NM_004860	NP_004851	P51116	FXR2_HUMAN	Homo sapiens fragile X mental retardation, autosomal homolog 2 (FXR2), mRNA.	540						cytosolic large ribosomal subunit	RNA binding|protein binding	p.P540fs*32(2)|p.A541fs*14(1)		NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)	26				READ - Rectum adenocarcinoma(115;0.17)		TGGCACTTGCTGGGGGGGGTTC	0.609												
FLII	2314	broad.mit.edu	37	17	18150517	18150517	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr17:18150516_18150516GA>G	uc002gsr.1	-	20	2694	c.2643_2643TC>C	c.(2641-2643)ttcfs	p.F881fs	FLII_uc002gsq.1_Frame_Shift_Del_p.F752fs|FLII_uc010vxn.1_Frame_Shift_Del_p.F850fs|FLII_uc010vxo.1_Frame_Shift_Del_p.F826fs|FLII_uc002gss.1_Frame_Shift_Del_p.F880fs	NM_002018	NP_002009	Q13045	FLII_HUMAN	Homo sapiens flightless I homolog (Drosophila) (FLII), transcript variant 1, mRNA.	881					multicellular organismal development|muscle contraction|regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleus	actin binding			central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32	all_neural(463;0.228)					GCCGCGGCAGGAAAAGCGCAG	0.726												
NF1	4763	broad.mit.edu	37	17	29553478	29553479	+	Frame_Shift_Ins	INS	-	-	C	rs145092683		TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr17:29553477_29553478A>AC	uc002hgg.3	+	17	2409_2410	c.2026_2027A>AC	c.(2026-2028)accfs	p.T676fs	NF1_uc002hgh.3_Frame_Shift_Ins_p.T676fs|NF1_uc010csn.2_Frame_Shift_Ins_p.T536fs|NF1_uc002hgi.1_5'UTR	NM_001042492	NP_001035957	P21359	NF1_HUMAN	Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA.	676					MAPKKK cascade|Ras protein signal transduction|actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|metanephros development|myelination in peripheral nervous system|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	Ras GTPase activator activity|protein binding	p.0?(8)|p.?(4)|p.P678fs*10(1)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		ATGCAGCGGAACCCCCCCGATT	0.460			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)		
HAP1	9001	broad.mit.edu	37	17	39881315	39881315	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr17:39881314_39881314TC>T	uc002hxm.1	-	11	1667	c.1655_1655GA>A	c.(1654-1656)gaafs	p.E552fs	JUP_uc010wfs.2_Intron|HAP1_uc002hxn.1_Frame_Shift_Del_p.E500fs|HAP1_uc002hxo.1_Frame_Shift_Del_p.E483fs|HAP1_uc002hxp.1_Frame_Shift_Del_p.E475fs	NM_177977	NP_817084	P54257	HAP1_HUMAN	Homo sapiens huntingtin-associated protein 1 (HAP1), transcript variant 2, mRNA.	552	Glu-rich.				brain development|protein localization|synaptic transmission	actin cytoskeleton	protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(4)|skin(1)	21		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.0677)			CGTGAAATCTTCCCCCCGCAT	0.617												
LRRC37A2	474170	broad.mit.edu	37	17	45127300	45127301	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr17:45127299_45127300G>GA	uc010wkj.1	+	1	851_852	c.497_498G>GA	c.(496-498)agafs	p.R166fs	ARL17_uc021tzb.1_Intron|DQ597730_uc010wkl.2_Non-coding_Transcript			A6NM11	L37A2_HUMAN	Homo sapiens cDNA FLJ42521 fis, clone BRACE3000973.	1302						integral to membrane				endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|pancreas(4)|prostate(2)	15		Melanoma(429;0.211)		BRCA - Breast invasive adenocarcinoma(366;0.232)		TCACATTCCAGAAAAAAATACC	0.391												
TMEM92	162461	broad.mit.edu	37	17	48356598	48356598	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr17:48356597_48356597AC>A	uc002iqn.2	+	5	518	c.408_408AC>A	c.(406-408)ccafs	p.P136fs	TMEM92_uc021tzz.1_Frame_Shift_Del_p.P136fs	NM_001168215	NP_694961	Q6UXU6	TMM92_HUMAN	Homo sapiens transmembrane protein 92 (TMEM92), transcript variant 2, mRNA.	136	Pro-rich.					integral to membrane				NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(1)|lung(1)	7						CCACAGAGCCACCCCCTCCCT	0.597												
HLF	3131	broad.mit.edu	37	17	53345288	53345288	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr17:53345287_53345287TC>T	uc002iug.1	+	1	816	c.291_291TC>T	c.(289-291)attfs	p.I97fs	HLF_uc010dce.1_Frame_Shift_Del_p.I12fs|HLF_uc002iuh.2_Frame_Shift_Del_p.I12fs|HLF_uc010wni.1_Frame_Shift_Del_p.F46fs	NM_002126	NP_002117	Q16534	HLF_HUMAN	Homo sapiens hepatic leukemia factor (HLF), mRNA.	97					multicellular organismal development|rhythmic process|transcription from RNA polymerase II promoter	nucleus	double-stranded DNA binding|protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|ovary(2)	3						AAAATGGCATTCCCCCCAGCC	0.582			T	TCF3	ALL							
RNF43	54894	broad.mit.edu	37	17	56435161	56435161	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr17:56435160_56435160AC>A	uc002iwf.3	-	7	3933	c.1977_1977GT>T	c.(1975-1977)ggtfs	p.G659fs	RNF43_uc010wnv.2_Frame_Shift_Del_p.G618fs|RNF43_uc002iwh.4_Frame_Shift_Del_p.G659fs|RNF43_uc002iwg.4_Frame_Shift_Del_p.G659fs|RNF43_uc010dcw.3_Frame_Shift_Del_p.G532fs	NM_017763	NP_060233	Q68DV7	RNF43_HUMAN	Homo sapiens ring finger protein 43 (RNF43), mRNA.	659	Pro-rich.					endoplasmic reticulum membrane|integral to membrane|nuclear envelope	ligase activity|protein binding|zinc ion binding	p.G659fs*41(1)		NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GCTCGGAGGGACCCCCCCGCC	0.597												
LRRC37A3	374819	broad.mit.edu	37	17	62856785	62856785	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr17:62856784_62856784GT>G	uc002jey.2	-	10	4096	c.3480_3480AC>C	c.(3478-3480)aacfs	p.N1160fs	LRRC37A3_uc010wqg.1_Frame_Shift_Del_p.N278fs|LRRC37A3_uc002jex.1_Frame_Shift_Del_p.N137fs|LRRC37A3_uc010wqf.1_Frame_Shift_Del_p.N198fs|LRRC37A3_uc010dek.1_Frame_Shift_Del_p.N166fs|DQ578599_uc021ubv.1_5'Flank	NM_199340	NP_955372	O60309	L37A3_HUMAN	Homo sapiens leucine rich repeat containing 37, member A3 (LRRC37A3), mRNA.	1160						integral to membrane				NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|liver(1)|lung(10)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						GTCTCTGCCGGTTTTTGCCTA	0.493												
LRRC45	201255	broad.mit.edu	37	17	79983283	79983283	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr17:79983282_79983282TG>T	uc002kde.3	+	4	800	c.560_560TG>T	c.(559-561)ctgfs	p.L187fs	STRA13_uc002kdc.3_5'Flank|STRA13_uc002kdd.3_5'Flank	NM_144999	NP_659436	Q96CN5	LRC45_HUMAN	Homo sapiens leucine rich repeat containing 45 (LRRC45), mRNA.	187						centrosome				lung(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	5	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191)			GTTGGCCTCCTGGGGGGCCGG	0.627												
WDR7	23335	broad.mit.edu	37	18	54358513	54358513	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr18:54358512_54358512CG>C	uc002lgk.1	+	7	994	c.783_783CG>C	c.(781-783)accfs	p.T261fs	WDR7_uc010dpk.1_Non-coding_Transcript|WDR7_uc002lgl.1_Frame_Shift_Del_p.T261fs	NM_015285	NP_056100	Q9Y4E6	WDR7_HUMAN	Homo sapiens WD repeat domain 7 (WDR7), transcript variant 1, mRNA.	261								p.T261P(1)		NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	78				Lung(128;0.0238)|Colorectal(16;0.0296)		AGACATGGACCGGGGGGGACT	0.418												
SERPINB8	5271	broad.mit.edu	37	18	61652328	61652328	+	Splice_Site	DEL	A	A	-			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr18:61652327_61652327GA>G	uc002ljv.3	+	6	737	c.568_splice	c.e6-1	p.E190_splice	SERPINB8_uc002ljt.3_Splice_Site_p.E190_splice|SERPINB8_uc002lju.3_Splice_Site_p.E190_splice|SERPINB8_uc010xex.2_Splice_Site_p.E8_splice	NM_198833	NP_942130	P50452	SPB8_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 8 (SERPINB8), transcript variant 2, mRNA.	190					regulation of proteolysis	cytosol	protein binding|serine-type endopeptidase inhibitor activity			breast(2)|kidney(1)|large_intestine(4)|lung(9)|skin(1)	17		Esophageal squamous(42;0.129)				TTTCCGTTAGGAAAAAAAGAC	0.373												
OR7G2	390882	broad.mit.edu	37	19	9213599	9213600	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr19:9213598_9213599C>CA	uc010xkk.2	-	0	384_385	c.384_385G>TG	c.(382-387)tttgctfs	p.F128fs		NM_001005193	NP_001005193	Q8NG99	OR7G2_HUMAN	Homo sapiens olfactory receptor, family 7, subfamily G, member 2 (OR7G2), mRNA.	107					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A129fs*14(2)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|skin(3)	16						TCCAAGCCAGCAAAAAACAAGA	0.510												
ZNF878	729747	broad.mit.edu	37	19	12155625	12155626	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr19:12155624_12155625G>GT	uc021upl.1	-	3	757_758	c.591_592C>AC	c.(589-594)aaacccfs	p.K197fs	ZNF878_uc002mta.1_Frame_Shift_Ins_p.K244fs	NM_001080404	NP_001073873	C9JN71	ZN878_HUMAN	Homo sapiens zinc finger protein 878 (ZNF878), mRNA.	197					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			cervix(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1)	8						CATTCATAGGGTTTTTTTGCAG	0.396												
GCDH	2639	broad.mit.edu	37	19	13008601	13008601	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr19:13008600_13008600TG>T	uc002mvq.3	+	10	1243	c.1166_1166TG>T	c.(1165-1167)ctgfs	p.L389fs	GCDH_uc002mvp.3_Frame_Shift_Del_p.L389fs|GCDH_uc010xmt.2_Frame_Shift_Del_p.L223fs|GCDH_uc010xmu.2_Frame_Shift_Del_p.L345fs	NM_000159	NP_000150	Q92947	GCDH_HUMAN	Homo sapiens glutaryl-CoA dehydrogenase (GCDH), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	389					lysine catabolic process	mitochondrial matrix	flavin adenine dinucleotide binding|glutaryl-CoA dehydrogenase activity|protein binding	p.M388I(1)		autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)	19						CGAGACATGCTGGGGGGGAAT	0.602												
CIB3	117286	broad.mit.edu	37	19	16275654	16275654	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr19:16275653_16275653GC>G	uc002nds.3	-	4	418	c.418_418GC>C	c.(418-420)ctgfs	p.L140fs	CIB3_uc010eae.3_Frame_Shift_Del_p.L79fs|CIB3_uc010eaf.3_Non-coding_Transcript|CIB3_uc010eag.3_Frame_Shift_Del_p.L91fs	NM_054113	NP_473454	Q96Q77	CIB3_HUMAN	Homo sapiens calcium and integrin binding family member 3 (CIB3), mRNA.	140							calcium ion binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(2)	16						TCGGCACTCAGCCCCCCCCGC	0.562												
UPK1A	11045	broad.mit.edu	37	19	36166867	36166868	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr19:36166866_36166867T>TC	uc010eeh.3	+	4	593_594	c.593_594T>TC	c.(592-594)atcfs	p.I198fs	UPK1A_uc002oaw.3_Frame_Shift_Ins_p.I198fs|BC007817_uc002oax.1_5'Flank			O00322	UPK1A_HUMAN	Homo sapiens uroplakin 1A (UPK1A), mRNA.	198					epithelial cell differentiation|protein oligomerization	endoplasmic reticulum|integral to membrane	monosaccharide binding|protein homodimerization activity			breast(1)|large_intestine(4)|lung(2)|stomach(2)	9	all_lung(56;2.22e-07)|Lung NSC(56;3.47e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GGAAACTTCATCCCCCTCAACG	0.634												
CIC	23152	broad.mit.edu	37	19	42793162	42793163	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr19:42793161_42793162G>GC	uc002otf.1	+	6	1093_1094	c.1053_1054G>GC	c.(1051-1056)cggcccfs	p.R351fs		NM_015125	NP_055940	Q96RK0	CIC_HUMAN	Homo sapiens capicua homolog (Drosophila) (CIC), mRNA.	351					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				GCTCAGCCCGGCCCCGAGCTTT	0.649			"""Mis, F, S"""		oligodendroglioma							
SPHK2	56848	broad.mit.edu	37	19	49131530	49131531	+	Frame_Shift_Ins	INS	-	-	G	rs142182513	byFrequency	TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr19:49131529_49131530C>CG	uc002pjw.3	+	3	1750_1751	c.1053_1054C>CG	c.(1051-1056)cacgggfs	p.H351fs	SPHK2_uc010xzt.2_Frame_Shift_Ins_p.H230fs|SPHK2_uc002pjt.3_Frame_Shift_Ins_p.H83fs|SPHK2_uc002pjr.3_Frame_Shift_Ins_p.H289fs|SPHK2_uc002pjs.3_Frame_Shift_Ins_p.H289fs|SPHK2_uc002pju.3_Frame_Shift_Ins_p.H253fs|SPHK2_uc002pjv.3_Frame_Shift_Ins_p.H253fs|SPHK2_uc010xzu.1_Frame_Shift_Ins_p.H253fs	NM_001204160	NP_001191089	Q9NRA0	SPHK2_HUMAN	Homo sapiens sphingosine kinase 2 (SPHK2), transcript variant 4, mRNA.	289					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis|cell proliferation|sphinganine-1-phosphate biosynthetic process	cytosol|lysosomal membrane|membrane fraction	ATP binding|D-erythro-sphingosine kinase activity|Ras GTPase binding|diacylglycerol kinase activity|sphinganine kinase activity			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	19		all_lung(116;0.000125)|Lung NSC(112;0.000202)|all_epithelial(76;0.000283)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158)		TGAACCAGCACGGGGGGTAGGT	0.624												
SIGLEC1	6614	broad.mit.edu	37	20	3684491	3684491	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr20:3684490_3684490TG>T	uc002wja.3	-	3	955	c.955_955CA>A	c.(955-957)atcfs	p.I319fs	SIGLEC1_uc002wiz.4_Frame_Shift_Del_p.I319fs|SIGLEC1_uc002wjc.3_Frame_Shift_Del_p.I230fs	NM_023068	NP_075556	Q9BZZ2	SN_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 1, sialoadhesin (SIGLEC1), mRNA.	319	Ig-like C2-type 2.				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding	p.P318L(2)|p.P318P(1)		NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						TGGAGGCTGATGGGGGGTGAG	0.617												
ACSS2	55902	broad.mit.edu	37	20	33502206	33502206	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr20:33502205_33502205TC>T	uc010gey.2	+	6	920	c.799_799TC>T	c.(799-801)tccfs	p.S267fs	ACSS2_uc002xbc.2_Frame_Shift_Del_p.S172fs|ACSS2_uc010zum.1_Intron|ACSS2_uc002xbd.2_Frame_Shift_Del_p.S267fs|ACSS2_uc002xbe.2_Intron	NM_001076552	NP_001070020	Q9NR19	ACSA_HUMAN	Homo sapiens acyl-CoA synthetase short-chain family member 2 (ACSS2), transcript variant 2, mRNA.	267					ethanol oxidation|lipid biosynthetic process|xenobiotic metabolic process	cytosol|nucleus	ATP binding|acetate-CoA ligase activity|protein binding			cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(9)	21					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	CACCAGCCAGTCCCCCCCAAT	0.537												
PTPRT	11122	broad.mit.edu	37	20	40739003	40739003	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr20:40739002_40739002CG>C	uc002xkg.3	-	22	3409	c.3225_3225CG>G	c.(3223-3225)ccgfs	p.P1075fs	PTPRT_uc010ggj.3_Frame_Shift_Del_p.P1094fs|PTPRT_uc010ggi.3_Frame_Shift_Del_p.P278fs	NM_007050	NP_008981	O14522	PTPRT_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, T (PTPRT), transcript variant 2, mRNA.	1075	Tyrosine-protein phosphatase 1.				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	p.H1075N(1)		NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				GCCCAGCTTCCGGGGGGTTGA	0.627												
SYCP2	10388	broad.mit.edu	37	20	58467741	58467742	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr20:58467740_58467741C>CT	uc002yaz.3	-	21	1948_1949	c.1809_1810G>AG	c.(1807-1812)ttagacfs	p.L603fs		NM_014258	NP_055073	Q9BX26	SYCP2_HUMAN	Homo sapiens synaptonemal complex protein 2 (SYCP2), mRNA.	603					cell division|meiotic prophase I|synaptonemal complex assembly		DNA binding	p.L603S(1)		NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;1.19e-09)			CAGATGTTGTCTAAAACACCAG	0.332												
NRIP1	8204	broad.mit.edu	37	21	16338326	16338327	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr21:16338325_16338326TTC>T	uc021whl.1	-	0	2188_2189	c.2188_2189GAA>A	c.(2188-2190)aaafs	p.K730fs	NRIP1_uc002yjx.2_Frame_Shift_Del_p.K730fs	NM_003489	NP_003480	P48552	NRIP1_HUMAN	Homo sapiens nuclear receptor interacting protein 1 (NRIP1), mRNA.	730					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			cervix(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(13)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	39				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)		TAAGGGAGTTTTCTCTTTTTTT	0.406												
EP300	2033	broad.mit.edu	37	22	41545782	41545783	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr22:41545781_41545782C>CT	uc003azl.4	+	13	2791_2792	c.2396_2397C>CT	c.(2395-2397)tctfs	p.S799fs		NM_001429	NP_001420	Q09472	EP300_HUMAN	Homo sapiens E1A binding protein p300 (EP300), mRNA.	799	Poly-Ser.				DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|N-terminal peptidyl-lysine acetylation|apoptosis|cell cycle|histone H4 acetylation|interspecies interaction between organisms|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	DNA binding|RNA polymerase II activating transcription factor binding|androgen receptor binding|beta-catenin binding|histone acetyltransferase activity|transcription coactivator activity|zinc ion binding			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						ATGTCTAGTTCTTCCTGCCCGG	0.416			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome			
PKDREJ	10343	broad.mit.edu	37	22	46653562	46653563	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr22:46653561_46653562G>GA	uc003bhh.3	-	0	5658_5659	c.5658_5659C>TC	c.(5656-5661)tttccafs	p.F1886fs		NM_006071	NP_006062	Q9NTG1	PKDRE_HUMAN	Homo sapiens polycystic kidney disease (polycystin) and REJ homolog (sperm receptor for egg jelly homolog, sea urchin) (PKDREJ), mRNA.	1886					acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		TGCTGTTCTGGAAAAAAATAGA	0.411												
TBC1D22A	25771	broad.mit.edu	37	22	47188444	47188445	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr22:47188443_47188444A>AC	uc003bib.3	+	1	255_256	c.89_90A>AC	c.(88-90)cacfs	p.H30fs	TBC1D22A_uc010haf.3_5'UTR|TBC1D22A_uc003bie.3_Intron|TBC1D22A_uc010hag.3_Non-coding_Transcript|TBC1D22A_uc003bif.3_5'UTR	NM_014346	NP_055161	Q8WUA7	TB22A_HUMAN	Homo sapiens TBC1 domain family, member 22A (TBC1D22A), mRNA.	30						intracellular	Rab GTPase activator activity|protein homodimerization activity			breast(1)|endometrium(3)|large_intestine(10)|lung(5)|ovary(2)|prostate(1)	22		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)		GGTGCCCAGCACCCCCCCTTTG	0.569												
DMD	1756	broad.mit.edu	37	X	31222118	31222119	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chrX:31222117_31222118G>GC	uc004dda.1	-	66	10011_10012	c.9767_9768C>GC	c.(9766-9768)ggcfs	p.G3256fs	DMD_uc004dcq.1_Frame_Shift_Ins_p.G527fs|DMD_uc004dcr.1_Frame_Shift_Ins_p.G796fs|DMD_uc004dcs.1_Frame_Shift_Ins_p.G796fs|DMD_uc004dct.1_Frame_Shift_Ins_p.G796fs|DMD_uc004dcu.1_Frame_Shift_Ins_p.G796fs|DMD_uc004dcv.1_Frame_Shift_Ins_p.G796fs|DMD_uc004dcw.2_Frame_Shift_Ins_p.G1912fs|DMD_uc004dcx.2_Frame_Shift_Ins_p.G1915fs|DMD_uc004dcz.2_Frame_Shift_Ins_p.G3133fs|DMD_uc004dcy.1_Frame_Shift_Ins_p.G3252fs|DMD_uc004ddb.1_Frame_Shift_Ins_p.G3248fs|DMD_uc004dcp.1_Frame_Shift_Ins_p.G188fs|DMD_uc011mkb.1_Frame_Shift_Ins_p.G188fs|DMD_uc004dcm.1_Frame_Shift_Ins_p.G188fs|DMD_uc004dcn.1_Frame_Shift_Ins_p.G188fs|DMD_uc004dco.1_Frame_Shift_Ins_p.G188fs|DMD_uc010ngm.3_Frame_Shift_Ins_p.G188fs	NM_004006	NP_004001	P11532	DMD_HUMAN	Homo sapiens dystrophin (DMD), transcript variant Dp427m, mRNA.	3256	Interaction with SYNM (By similarity).				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				CAATGTTACTGCCCCCAAAGGA	0.406												
ESX1	80712	broad.mit.edu	37	X	103495287	103495295	+	In_Frame_Del	DEL	GCGTGAGCC	GCGTGAGCC	-	rs144173947	byFrequency	TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chrX:103495286_103495294TGCGTGAGCC>T	uc004ely.3	-	3	905_913	c.836_844GGCTCACGCA>A	c.(835-846)ggctcacgcatg>gAtg	p.279_282GSRM>D		NM_153448	NP_703149	Q8N693	ESX1_HUMAN	Homo sapiens ESX homeobox 1 (ESX1), mRNA.	279	15 X 9 AA tandem repeats of P-P-x-x-P-x- P-P-x.				negative regulation of transcription, DNA-dependent|regulation of cell cycle	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.S280T(2)		endometrium(2)|large_intestine(10)|lung(12)|ovary(1)|skin(2)	27						ACAGGCGCCATGCGTGAGCCGGGTGGCAC	0.718												
MAP7D3	79649	broad.mit.edu	37	X	135314194	135314195	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chrX:135314193_135314194T>TG	uc004ezt.3	-	7	1143_1144	c.922_923A>CA	c.(922-924)cagfs	p.Q308fs	MAP7D3_uc004ezs.3_Frame_Shift_Ins_p.Q273fs|MAP7D3_uc011mwc.2_Frame_Shift_Ins_p.Q290fs|MAP7D3_uc010nsa.2_Frame_Shift_Ins_p.Q266fs	NM_024597	NP_078873	Q8IWC1	MA7D3_HUMAN	Homo sapiens MAP7 domain containing 3 (MAP7D3), transcript variant 1, mRNA.	308						cytoplasm|spindle				central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(1)	44	Acute lymphoblastic leukemia(192;0.000127)					CACATTCACCTGGGGGGGTGCA	0.535												
