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
ATAD3A	55210	broad.mit.edu	37	1	1455959	1455959	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr1:1455959C>A	uc001afz.1	+	7	950	c.856C>A	c.(856-858)CGT>AGT	p.R286S	ATAD3A_uc001aga.1_Missense_Mutation_p.R238S|ATAD3A_uc001agb.1_Missense_Mutation_p.R159S	NM_018188	NP_060658	Q9NVI7	ATD3A_HUMAN	ATPase family, AAA domain containing 3A	286							ATP binding|nucleoside-triphosphatase activity|protein binding			skin(1)	1	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;1.12e-36)|OV - Ovarian serous cystadenocarcinoma(86;2.18e-22)|Colorectal(212;0.000164)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00233)|BRCA - Breast invasive adenocarcinoma(365;0.00469)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0347)|Lung(427;0.147)		GGAAGGATTCCGTGCCTTTGT	0.587												
NADK	65220	broad.mit.edu	37	1	1687948	1687948	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr1:1687948G>A	uc009vkw.2	-	5	614	c.493C>T	c.(493-495)CGA>TGA	p.R165*	NADK_uc001aic.2_Nonsense_Mutation_p.R165*|NADK_uc001aid.3_Nonsense_Mutation_p.R165*|NADK_uc001aie.2_Nonsense_Mutation_p.R310*|NADK_uc010nyv.1_Nonsense_Mutation_p.R133*|NADK_uc009vkx.1_Nonsense_Mutation_p.R43*	NM_023018	NP_075394	O95544	NADK_HUMAN	NAD kinase	165					ATP metabolic process|NAD metabolic process|water-soluble vitamin metabolic process	cytosol	ATP binding|metal ion binding|NAD+ kinase activity|protein binding				0	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.61e-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)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;8.75e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.33e-23)|GBM - Glioblastoma multiforme(42;1.35e-07)|Colorectal(212;0.000203)|COAD - Colon adenocarcinoma(227;0.000225)|Kidney(185;0.00265)|STAD - Stomach adenocarcinoma(132;0.00655)|BRCA - Breast invasive adenocarcinoma(365;0.00855)|KIRC - Kidney renal clear cell carcinoma(229;0.0382)|Lung(427;0.207)		CCACCTTCTCGAAAGGTACAG	0.517												
PRDM16	63976	broad.mit.edu	37	1	3342751	3342751	+	Silent	SNP	T	T	C			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr1:3342751T>C	uc001akf.2	+	14	3326	c.3246T>C	c.(3244-3246)AAT>AAC	p.N1082N	PRDM16_uc001akc.2_Silent_p.N1081N|PRDM16_uc001akd.2_Silent_p.N1081N|PRDM16_uc001ake.2_Silent_p.N1082N|PRDM16_uc009vlh.2_Silent_p.N782N	NM_022114	NP_071397	Q9HAZ2	PRD16_HUMAN	PR domain containing 16 isoform 1	1082	Mediates interaction with SKI and regulation of TGF-beta signaling.				brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent	transcriptional repressor complex	protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding			lung(3)|ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	7	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		TTATTGCCAATAGTGAGATGA	0.522			T	EVI1	MDS|AML							
KIAA0562	9731	broad.mit.edu	37	1	3755627	3755627	+	Silent	SNP	T	T	C			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr1:3755627T>C	uc001aky.2	-	8	1151	c.792A>G	c.(790-792)GAA>GAG	p.E264E	KIAA0562_uc010nzm.1_RNA|KIAA0562_uc001akz.2_Silent_p.E264E	NM_014704	NP_055519	O60308	CE104_HUMAN	glycine-, glutamate-,	264	Potential.					centriole	binding				0	all_cancers(77;0.0395)|Ovarian(185;0.0634)|all_lung(157;0.222)|Lung NSC(156;0.227)	all_epithelial(116;3.96e-21)|all_lung(118;2.74e-08)|Lung NSC(185;6.4e-06)|Breast(487;0.00066)|Renal(390;0.00121)|Hepatocellular(190;0.00335)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.031)|Lung SC(97;0.0548)|Medulloblastoma(700;0.212)		Epithelial(90;6.85e-39)|OV - Ovarian serous cystadenocarcinoma(86;1.59e-22)|GBM - Glioblastoma multiforme(42;3.16e-16)|Colorectal(212;2.01e-05)|COAD - Colon adenocarcinoma(227;7.99e-05)|BRCA - Breast invasive adenocarcinoma(365;0.000389)|Kidney(185;0.000513)|STAD - Stomach adenocarcinoma(132;0.00709)|KIRC - Kidney renal clear cell carcinoma(229;0.00714)|Lung(427;0.137)		GATCGTAGTCTTCCTTCTCCA	0.517												
RERE	473	broad.mit.edu	37	1	8421436	8421436	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr1:8421436T>C	uc001ape.2	-	19	2941	c.2131A>G	c.(2131-2133)ACG>GCG	p.T711A	RERE_uc001apf.2_Missense_Mutation_p.T711A|RERE_uc010nzx.1_Missense_Mutation_p.T443A|RERE_uc001apd.2_Missense_Mutation_p.T157A	NM_012102	NP_036234	Q9P2R6	RERE_HUMAN	atrophin-1 like protein isoform a	711					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)		CTCGGGGACGTGCTGCGATTG	0.617												
APITD1	378708	broad.mit.edu	37	1	10502436	10502436	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr1:10502436G>A	uc001are.2	+	5	807	c.391G>A	c.(391-393)GCT>ACT	p.A131T	APITD1_uc001arf.2_Intron|APITD1_uc001arg.2_Intron|APITD1_uc001arh.2_Missense_Mutation_p.A92T	NM_199294	NP_954988	Q8N2Z9	CENPS_HUMAN	apoptosis-inducing, TAF9-like domain 1 isoform	131					DNA repair|mitotic prometaphase|transcription initiation, DNA-dependent	chromosome, centromeric region|cytosol|Fanconi anaemia nuclear complex	chromatin binding|DNA binding|protein binding			ovary(1)	1	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.19e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.31e-07)|COAD - Colon adenocarcinoma(227;7.32e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000297)|Kidney(185;0.000747)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0487)		GCCAGCAGAGGCTGGAGTGGT	0.453												
FBXO44	93611	broad.mit.edu	37	1	11716005	11716005	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr1:11716005G>A	uc001asm.2	+	2	239	c.113G>A	c.(112-114)CGG>CAG	p.R38Q	FBXO2_uc001asj.2_5'Flank|FBXO2_uc009vna.2_5'Flank|FBXO2_uc009vnb.1_5'Flank|FBXO44_uc001ask.2_Missense_Mutation_p.R38Q|FBXO44_uc010oaq.1_Missense_Mutation_p.R38Q|FBXO44_uc001asl.2_Missense_Mutation_p.R38Q|FBXO44_uc001asn.2_Missense_Mutation_p.R38Q|FBXO44_uc010oar.1_Missense_Mutation_p.R38Q|FBXO44_uc010oas.1_5'UTR	NM_033182	NP_149438	Q9H4M3	FBX44_HUMAN	F-box protein 44 isoform 1	38	F-box.				protein catabolic process	SCF ubiquitin ligase complex	protein binding			ovary(1)	1	Ovarian(185;0.249)	Lung NSC(185;4.15e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.41e-06)|COAD - Colon adenocarcinoma(227;0.000255)|BRCA - Breast invasive adenocarcinoma(304;0.0003)|Kidney(185;0.000758)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0649)		AGCCTCTGGCGGGACCTCATC	0.632												
CLCN6	1185	broad.mit.edu	37	1	11894557	11894557	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr1:11894557G>A	uc001ate.3	+	17	1816	c.1703G>A	c.(1702-1704)GGG>GAG	p.G568E	CLCN6_uc010oat.1_Missense_Mutation_p.G284E|CLCN6_uc010oau.1_Missense_Mutation_p.G546E	NM_001286	NP_001277	P51797	CLCN6_HUMAN	chloride channel 6 isoform ClC-6a	568	Helical; (By similarity).				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)		AAATGGACAGGGGACTTTTTC	0.547												
EPHA2	1969	broad.mit.edu	37	1	16459802	16459802	+	Silent	SNP	C	C	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr1:16459802C>T	uc001aya.1	-	11	2063	c.1926G>A	c.(1924-1926)CCG>CCA	p.P642P		NM_004431	NP_004422	P29317	EPHA2_HUMAN	ephrin receptor EphA2 precursor	642	Mediates interaction with ARHGEF16 and ELMO2.|Protein kinase.|Cytoplasmic (Potential).				activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus	focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane	ATP binding|ephrin receptor activity|protein binding			lung(3)|central_nervous_system(3)|stomach(2)|ovary(2)	10		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)	TGATGGCCACCGGCACCTCCT	0.612												
UBR4	23352	broad.mit.edu	37	1	19471342	19471342	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr1:19471342T>C	uc001bbi.2	-	54	8009	c.8005A>G	c.(8005-8007)ACC>GCC	p.T2669A	UBR4_uc001bbk.1_Missense_Mutation_p.T351A	NM_020765	NP_065816	Q5T4S7	UBR4_HUMAN	retinoblastoma-associated factor 600	2669					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)		AGCTCACAGGTACAGTAGCCA	0.438												
CNKSR1	10256	broad.mit.edu	37	1	26506988	26506988	+	Silent	SNP	C	C	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr1:26506988C>T	uc001bln.3	+	2	155	c.97C>T	c.(97-99)CTG>TTG	p.L33L	CNKSR1_uc010oex.1_RNA|CNKSR1_uc001blm.3_Silent_p.L33L|CNKSR1_uc009vsd.2_5'UTR|CNKSR1_uc009vse.2_5'UTR|CNKSR1_uc001blo.2_5'UTR	NM_006314	NP_006305	Q969H4	CNKR1_HUMAN	connector enhancer of kinase suppressor of Ras	33	SAM.				Rho protein signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway	cell cortex|cell-cell junction	protein binding, bridging			lung(1)|kidney(1)	2		Colorectal(325;3.46e-05)|all_lung(284;0.000116)|Lung NSC(340;0.000154)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.72e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|BRCA - Breast invasive adenocarcinoma(304;0.000959)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00823)|READ - Rectum adenocarcinoma(331;0.0649)		GGACTGGCAGCTGCCTGGCAA	0.602												
NUDC	10726	broad.mit.edu	37	1	27269258	27269258	+	Silent	SNP	G	G	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr1:27269258G>A	uc001bng.1	+	5	653	c.537G>A	c.(535-537)TCG>TCA	p.S179S	NUDC_uc001bnh.1_Silent_p.S236S|NUDC_uc009vsq.1_Silent_p.S153S	NM_006600	NP_006591	Q9Y266	NUDC_HUMAN	nuclear distribution gene C homolog	179	CS.				cell proliferation|cytokinesis|mitotic prometaphase|multicellular organismal development	cytosol|microtubule|nucleoplasm	protein binding			ovary(1)	1				UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;6.1e-51)|OV - Ovarian serous cystadenocarcinoma(117;2.87e-29)|Colorectal(126;5.74e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000281)|STAD - Stomach adenocarcinoma(196;0.000604)|KIRC - Kidney renal clear cell carcinoma(1967;0.000739)|READ - Rectum adenocarcinoma(331;0.0421)		AGACCCTGTCGGAGCTGGACG	0.577												
HCRTR1	3061	broad.mit.edu	37	1	32086581	32086581	+	Silent	SNP	G	G	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr1:32086581G>A	uc009vtx.2	+	5	901	c.516G>A	c.(514-516)TCG>TCA	p.S172S	HCRTR1_uc001btb.2_5'UTR|HCRTR1_uc001btc.3_Silent_p.S86S|HCRTR1_uc001btd.2_Silent_p.S172S|HCRTR1_uc010ogl.1_Silent_p.S172S	NM_001525	NP_001516	O43613	OX1R_HUMAN	orexin receptor 1	172	Helical; Name=4; (Potential).				feeding behavior|neuropeptide signaling pathway|synaptic transmission	integral to plasma membrane				ovary(1)	1		Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.053)		GGGCTGTGTCGCTGGCCATCA	0.617												
COL16A1	1307	broad.mit.edu	37	1	32150143	32150143	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr1:32150143G>A	uc001btk.1	-	31	2506	c.2141C>T	c.(2140-2142)GCG>GTG	p.A714V	COL16A1_uc001btj.1_Missense_Mutation_p.A543V|COL16A1_uc001btl.3_Missense_Mutation_p.A714V	NM_001856	NP_001847	Q07092	COGA1_HUMAN	alpha 1 type XVI collagen precursor	714	Triple-helical region 6 (COL6) with 1 imperfection.				cell adhesion|female pregnancy|integrin-mediated signaling pathway	collagen type XVI	integrin binding|structural molecule activity			ovary(8)	8		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.059)		TTTTGGCCCCGCGGGGCCCTG	0.602												
BAI2	576	broad.mit.edu	37	1	32193865	32193865	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr1:32193865C>T	uc001btn.2	-	31	4787	c.4433G>A	c.(4432-4434)CGG>CAG	p.R1478Q	BAI2_uc001btm.2_Missense_Mutation_p.R472Q|BAI2_uc001btp.1_Missense_Mutation_p.R472Q|BAI2_uc010ogn.1_Missense_Mutation_p.R448Q|BAI2_uc010ogo.1_Missense_Mutation_p.R1087Q|BAI2_uc010ogp.1_Missense_Mutation_p.R1411Q|BAI2_uc010ogq.1_Missense_Mutation_p.R1444Q|BAI2_uc001bto.2_Missense_Mutation_p.R1477Q	NM_001703	NP_001694	O60241	BAI2_HUMAN	brain-specific angiogenesis inhibitor 2	1478	Cytoplasmic (Potential).				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			lung(5)|breast(4)|ovary(2)|central_nervous_system(1)|skin(1)	13		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)		STAD - Stomach adenocarcinoma(196;0.0557)		ATGCCGTTTCCGGGTGTGCAT	0.637												
LCK	3932	broad.mit.edu	37	1	32745576	32745576	+	Silent	SNP	C	C	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr1:32745576C>T	uc001bux.2	+	11	1314	c.1176C>T	c.(1174-1176)AAC>AAT	p.N392N	LCK_uc001buy.2_Silent_p.N392N|LCK_uc001buz.2_Silent_p.N422N|LCK_uc010ohc.1_Silent_p.N436N|LCK_uc001bva.2_Silent_p.N399N	NM_005356	NP_005347	P06239	LCK_HUMAN	lymphocyte-specific protein tyrosine kinase	392	Protein kinase.				activation of caspase activity|cellular zinc ion homeostasis|induction of apoptosis|interspecies interaction between organisms|leukocyte migration|platelet activation|positive regulation of T cell receptor signaling pathway|regulation of defense response to virus by virus|release of sequestered calcium ion into cytosol|response to drug|T cell costimulation|T cell differentiation|T cell receptor signaling pathway|viral reproduction	cytosol|Golgi apparatus|membrane raft|pericentriolar material|plasma membrane	ATP binding|ATPase binding|CD4 receptor binding|CD8 receptor binding|glycoprotein binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol 3-kinase binding|protein C-terminus binding|protein kinase binding|protein serine/threonine phosphatase activity|SH2 domain binding			lung(3)|central_nervous_system(2)|ovary(1)	6		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.212)			Dasatinib(DB01254)	TTGAGGACAACGAGTACACAG	0.557			T	TRB@	T-ALL							
CSMD2	114784	broad.mit.edu	37	1	34180274	34180274	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr1:34180274G>A	uc001bxn.1	-	21	3228	c.3199C>T	c.(3199-3201)CCC>TCC	p.P1067S	CSMD2_uc001bxm.1_Missense_Mutation_p.P1107S	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	1067	Sushi 6.|Extracellular (Potential).					integral to membrane|plasma membrane	protein binding			ovary(6)|skin(5)|pancreas(1)	12		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				CGGTACCCGGGGAAGCAGGAG	0.662												
EIF2C1	26523	broad.mit.edu	37	1	36354182	36354182	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr1:36354182G>T	uc001bzl.2	+	2	393	c.180G>T	c.(178-180)AAG>AAT	p.K60N	EIF2C1_uc001bzk.2_5'UTR	NM_012199	NP_036331	Q9UL18	AGO1_HUMAN	eukaryotic translation initiation factor 2C, 1	60					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)				TGGACATCAAGCCGGATAAGT	0.448												
LSM10	84967	broad.mit.edu	37	1	36859607	36859607	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr1:36859607G>A	uc001cao.1	-	2	274	c.124C>T	c.(124-126)CGC>TGC	p.R42C		NM_032881	NP_116270	Q969L4	LSM10_HUMAN	LSM10, U7 small nuclear RNA associated	42					histone mRNA metabolic process|mRNA processing|RNA splicing|S phase of mitotic cell cycle|termination of RNA polymerase II transcription	Cajal body|U7 snRNP	histone pre-mRNA DCP binding|protein binding				0		Myeloproliferative disorder(586;0.0393)				TTGTCTATGCGTCCGTGGGCC	0.587												
SF3A3	10946	broad.mit.edu	37	1	38433787	38433787	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr1:38433787C>T	uc001cci.2	-	15	1425	c.1301G>A	c.(1300-1302)GGC>GAC	p.G434D	SF3A3_uc010oik.1_Missense_Mutation_p.G381D	NM_006802	NP_006793	Q12874	SF3A3_HUMAN	splicing factor 3a, subunit 3	434	Matrin-type.				nuclear mRNA 3'-splice site recognition	catalytic step 2 spliceosome|nuclear speck	nucleic acid binding|protein binding|zinc ion binding				0	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				ACACCTCATGCCATGAGCATG	0.428												
MACF1	23499	broad.mit.edu	37	1	39900152	39900152	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr1:39900152C>T	uc010oiu.1	+	33	13083	c.12952C>T	c.(12952-12954)CGC>TGC	p.R4318C	MACF1_uc010ois.1_Missense_Mutation_p.R3816C|MACF1_uc001cda.1_Missense_Mutation_p.R3703C|MACF1_uc001cdc.1_Missense_Mutation_p.R2773C	NM_033044	NP_149033	Q9UPN3	MACF1_HUMAN	microfilament and actin filament cross-linker	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					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)			GCGTTATGCCCGCCTAGAGCG	0.433												
SLC6A9	6536	broad.mit.edu	37	1	44474178	44474178	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr1:44474178T>C	uc001cll.2	-	5	848	c.656A>G	c.(655-657)TAC>TGC	p.Y219C	SLC6A9_uc009vxe.2_Missense_Mutation_p.Y75C|SLC6A9_uc010okm.1_Missense_Mutation_p.Y146C|SLC6A9_uc001clm.2_Missense_Mutation_p.Y165C|SLC6A9_uc009vxd.2_RNA|SLC6A9_uc010okn.1_Missense_Mutation_p.Y150C|SLC6A9_uc001cln.2_Missense_Mutation_p.Y146C|SLC6A9_uc010oko.1_Missense_Mutation_p.Y35C|SLC6A9_uc010okp.1_RNA	NM_201649	NP_964012	P48067	SC6A9_HUMAN	solute carrier family 6 member 9 isoform 2	219	Extracellular (Potential).					integral to plasma membrane|membrane fraction	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity				0	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)			Glycine(DB00145)	GTTATTGCAGTAGGCCCAGGG	0.582												
ZSWIM5	57643	broad.mit.edu	37	1	45553698	45553698	+	Silent	SNP	G	G	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr1:45553698G>T	uc001cnd.2	-	2	1035	c.807C>A	c.(805-807)TCC>TCA	p.S269S		NM_020883	NP_065934	Q9P217	ZSWM5_HUMAN	zinc finger, SWIM domain containing 5	269							zinc ion binding				0	Acute lymphoblastic leukemia(166;0.155)					AAAGGGTTTCGGAGATAGGAA	0.448												
MKNK1	8569	broad.mit.edu	37	1	47046273	47046273	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr1:47046273G>A	uc001cqb.2	-	4	407	c.163C>T	c.(163-165)CTT>TTT	p.L55F	MKNK1_uc010omd.1_5'UTR|MKNK1_uc001cqc.2_Missense_Mutation_p.L55F|MKNK1_uc009vyi.2_Missense_Mutation_p.L55F|MKNK1_uc010ome.1_5'UTR|MKNK1_uc009vyj.2_Intron|MKNK1_uc001cqd.2_Missense_Mutation_p.L43F|MKNK1_uc010omf.1_Missense_Mutation_p.L55F	NM_003684	NP_003675	Q9BUB5	MKNK1_HUMAN	MAP kinase-interacting serine/threonine kinase 1	55	Protein kinase.|ATP (By similarity).				intracellular protein kinase cascade|peptidyl-serine phosphorylation|regulation of translation	cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			lung(2)	2	Acute lymphoblastic leukemia(166;0.155)					CCCTCTCCAAGCAATTCAGAG	0.468												
BTF3L4	91408	broad.mit.edu	37	1	52551842	52551842	+	Silent	SNP	A	A	G			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr1:52551842A>G	uc001ctk.2	+	5	637	c.429A>G	c.(427-429)CCA>CCG	p.P143P	BTF3L4_uc001ctl.2_Silent_p.P85P|BTF3L4_uc010onh.1_RNA|BTF3L4_uc001ctm.2_Silent_p.P143P	NM_152265	NP_689478	Q96K17	BT3L4_HUMAN	basic transcription factor 3-like 4 isoform 1	143										large_intestine(1)	1						ATGATGTTCCAGGTAAGTGAC	0.333												
LRP8	7804	broad.mit.edu	37	1	53722913	53722913	+	Silent	SNP	G	G	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr1:53722913G>A	uc001cvi.1	-	15	2575	c.2433C>T	c.(2431-2433)CAC>CAT	p.H811H	LRP8_uc001cvh.1_Silent_p.H364H|LRP8_uc001cvk.1_Silent_p.H641H|LRP8_uc001cvj.1_Silent_p.H811H|LRP8_uc001cvl.1_Intron|LRP8_uc001cvm.1_Silent_p.H396H	NM_004631	NP_004622	Q14114	LRP8_HUMAN	low density lipoprotein receptor-related protein	811	Extracellular (Potential).				cytokine-mediated signaling pathway|endocytosis|lipid metabolic process|platelet activation|proteolysis	caveola	calcium ion binding|very-low-density lipoprotein particle receptor activity				0						TTTCCTTACAGTGCTGGGAGT	0.542												
C1orf83	127428	broad.mit.edu	37	1	54554360	54554360	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr1:54554360A>G	uc001cwt.1	+	4	535	c.335A>G	c.(334-336)GAA>GGA	p.E112G	C1orf83_uc001cwu.1_RNA	NM_153035	NP_694580	Q96MN5	TEAN2_HUMAN	hypothetical protein LOC127428	112	TFIIS N-terminal.				transcription, DNA-dependent	nucleus	DNA binding				0						ACTTTCACTGAAAAACATTCA	0.403												
C8A	731	broad.mit.edu	37	1	57347128	57347128	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr1:57347128C>A	uc001cyo.2	+	5	607	c.475C>A	c.(475-477)CTG>ATG	p.L159M		NM_000562	NP_000553	P07357	CO8A_HUMAN	complement component 8, alpha polypeptide	159	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular space|membrane attack complex				ovary(1)|central_nervous_system(1)|skin(1)	3						GTACAATATCCTGACCCAGGA	0.323												
DNAJC6	9829	broad.mit.edu	37	1	65830386	65830386	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr1:65830386G>T	uc001dcd.1	+	2	255	c.91G>T	c.(91-93)GGG>TGG	p.G31W	DNAJC6_uc001dcc.1_Missense_Mutation_p.G62W|DNAJC6_uc010opc.1_Missense_Mutation_p.G18W|DNAJC6_uc001dce.1_Missense_Mutation_p.G88W	NM_014787	NP_055602	O75061	AUXI_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 6	31					cellular membrane organization|post-Golgi vesicle-mediated transport	cytosol	heat shock protein binding|protein tyrosine phosphatase activity|SH3 domain binding			large_intestine(1)|lung(1)|ovary(1)	3						AGGAGGTGCAGGGAGGCTCTT	0.443												
PRKACB	5567	broad.mit.edu	37	1	84679841	84679841	+	Silent	SNP	A	A	G			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr1:84679841A>G	uc001djj.2	+	9	1035	c.771A>G	c.(769-771)CGA>CGG	p.R257R	PRKACB_uc001djl.2_Silent_p.R304R|PRKACB_uc010ort.1_Silent_p.R264R|PRKACB_uc001djn.2_Silent_p.R261R|PRKACB_uc010oru.1_Silent_p.R245R|PRKACB_uc001djp.2_Silent_p.R263R|PRKACB_uc001djq.2_Silent_p.R227R|PRKACB_uc010orv.1_Silent_p.R244R	NM_002731	NP_002722	P22694	KAPCB_HUMAN	cAMP-dependent protein kinase catalytic subunit	257	Protein kinase.				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein signaling, coupled to cAMP nucleotide second messenger|gluconeogenesis|intracellular protein kinase cascade|nerve growth factor receptor signaling pathway|regulation of insulin secretion|synaptic transmission|transmembrane transport|triglyceride catabolic process|water transport	cAMP-dependent protein kinase complex|centrosome|cytosol|nucleoplasm|plasma membrane	ATP binding|cAMP-dependent protein kinase activity|magnesium ion binding|protein binding			lung(2)|ovary(1)	3				all cancers(265;0.00536)|Epithelial(280;0.0161)|OV - Ovarian serous cystadenocarcinoma(397;0.141)		TGTAGGTCCGATTCCCATCCC	0.398												
COL24A1	255631	broad.mit.edu	37	1	86590960	86590960	+	Silent	SNP	A	A	G			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr1:86590960A>G	uc001dlj.2	-	3	1101	c.1059T>C	c.(1057-1059)ACT>ACC	p.T353T	COL24A1_uc010osd.1_5'UTR|COL24A1_uc001dlk.2_RNA|COL24A1_uc010ose.1_RNA|COL24A1_uc010osf.1_RNA|COL24A1_uc009wcq.2_Silent_p.T353T	NM_152890	NP_690850	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1 precursor	353					cell adhesion	collagen	extracellular matrix structural constituent			ovary(3)|central_nervous_system(1)|skin(1)	5				all cancers(265;0.0627)|Epithelial(280;0.0689)		TGATGCGATGAGTGGTCACTG	0.413												
LRRC8B	23507	broad.mit.edu	37	1	90049770	90049770	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr1:90049770G>A	uc001dni.2	+	7	2068	c.1561G>A	c.(1561-1563)GTT>ATT	p.V521I	LRRC8B_uc001dnh.2_Missense_Mutation_p.V521I|LRRC8B_uc001dnj.2_Missense_Mutation_p.V521I	NM_001134476	NP_001127948	Q6P9F7	LRC8B_HUMAN	leucine rich repeat containing 8 family, member	521	LRR 3.					integral to membrane				ovary(2)	2		all_lung(203;0.17)		all cancers(265;0.00515)|Epithelial(280;0.0241)		TTCGGGCTGTGTTCTCCCTGA	0.443												
ZNF326	284695	broad.mit.edu	37	1	90473078	90473078	+	Silent	SNP	C	C	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr1:90473078C>T	uc001dnq.2	+	5	523	c.384C>T	c.(382-384)GGC>GGT	p.G128G	ZNF326_uc009wda.1_Intron|ZNF326_uc001dnr.2_Intron	NM_182976	NP_892021	Q5BKZ1	ZN326_HUMAN	zinc finger protein 326 isoform 1	128	Gly-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix	DNA binding			ovary(1)	1		all_lung(203;0.0116)|Lung NSC(277;0.0417)		all cancers(265;0.00728)|Epithelial(280;0.0265)		GAAACCAGGGCGGGTCTAGCT	0.488												
BTBD8	284697	broad.mit.edu	37	1	92568094	92568094	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr1:92568094A>G	uc001doo.2	+	3	679	c.412A>G	c.(412-414)ATG>GTG	p.M138V	BTBD8_uc010otc.1_RNA	NM_183242	NP_899065	Q5XKL5	BTBD8_HUMAN	BTB (POZ) domain containing 8	138						nucleus				ovary(1)	1		all_lung(203;0.0484)|Lung NSC(277;0.126)|Glioma(108;0.222)		all cancers(265;0.0153)|Epithelial(280;0.0982)		GAAAAAGATAATGGAGATTGG	0.279												
CCDC18	343099	broad.mit.edu	37	1	93698101	93698101	+	Missense_Mutation	SNP	C	C	G			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr1:93698101C>G	uc001dpq.2	+	18	2933	c.2765C>G	c.(2764-2766)ACA>AGA	p.T922R	CCDC18_uc009wdl.1_Missense_Mutation_p.T439R	NM_206886	NP_996769	Q5T9S5	CCD18_HUMAN	sarcoma antigen NY-SAR-41	803	Potential.									ovary(2)|breast(2)|pancreas(1)	5		all_lung(203;0.00196)|Lung NSC(277;0.00903)|Melanoma(281;0.099)|all_neural(321;0.185)|Glioma(108;0.203)		all cancers(265;0.00166)|GBM - Glioblastoma multiforme(16;0.00551)|Epithelial(280;0.0967)		CAACAAGAGACAATTAGAAAT	0.313												
PTBP2	58155	broad.mit.edu	37	1	97243163	97243163	+	Missense_Mutation	SNP	C	C	G			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr1:97243163C>G	uc001drq.2	+	6	701	c.455C>G	c.(454-456)GCT>GGT	p.A152G	PTBP2_uc001drn.2_Missense_Mutation_p.A152G|PTBP2_uc001dro.2_Missense_Mutation_p.A152G|PTBP2_uc010otz.1_Missense_Mutation_p.A163G|PTBP2_uc001drp.2_RNA|PTBP2_uc009wdw.2_Missense_Mutation_p.A100G|PTBP2_uc001drr.2_Missense_Mutation_p.A152G|PTBP2_uc010oua.1_Missense_Mutation_p.A160G|PTBP2_uc001dru.2_RNA	NM_021190	NP_067013	Q9UKA9	PTBP2_HUMAN	polypyrimidine tract binding protein 2	152							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)		GTTCTTCAAGCTGTGACAGCT	0.423												
GNAI3	2773	broad.mit.edu	37	1	110134705	110134705	+	Silent	SNP	C	C	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr1:110134705C>T	uc001dxz.2	+	8	1072	c.915C>T	c.(913-915)TGC>TGT	p.C305C		NM_006496	NP_006487	P08754	GNAI3_HUMAN	guanine nucleotide binding protein (G protein),	305					cell cycle|cell division|inhibition of adenylate cyclase activity by G-protein signaling pathway|platelet activation|synaptic transmission	centrosome|heterotrimeric G-protein complex|midbody	G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|metabotropic serotonin receptor binding|signal transducer activity			ovary(1)	1		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Lung(183;0.046)|Colorectal(144;0.119)|Epithelial(280;0.139)|all cancers(265;0.147)|LUSC - Lung squamous cell carcinoma(189;0.237)		ATATTCAATGCCAGTTTGAAG	0.418												
KCNA10	3744	broad.mit.edu	37	1	111060871	111060871	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr1:111060871C>T	uc001dzt.1	-	1	927	c.539G>A	c.(538-540)CGG>CAG	p.R180Q		NM_005549	NP_005540	Q16322	KCA10_HUMAN	potassium voltage-gated channel, shaker-related	180						voltage-gated potassium channel complex	intracellular cyclic nucleotide activated cation channel activity|voltage-gated potassium channel activity			ovary(3)|large_intestine(1)	4		all_cancers(81;4.57e-06)|all_epithelial(167;1.52e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301)		Lung(183;0.0238)|all cancers(265;0.0874)|Colorectal(144;0.103)|Epithelial(280;0.116)|LUSC - Lung squamous cell carcinoma(189;0.134)		TTCATCCTCCCGGAACTGGTC	0.507												
WNT2B	7482	broad.mit.edu	37	1	113057636	113057636	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr1:113057636A>G	uc001ecb.2	+	2	838	c.323A>G	c.(322-324)CAG>CGG	p.Q108R	WNT2B_uc001eca.2_Missense_Mutation_p.Q89R|WNT2B_uc009wgg.2_Missense_Mutation_p.Q16R	NM_024494	NP_078613	Q93097	WNT2B_HUMAN	wingless-type MMTV integration site family,	108					chondrocyte differentiation|cornea development in camera-type eye|dorsal/ventral axis specification|forebrain regionalization|hemopoietic stem cell proliferation|iris morphogenesis|lens development in camera-type eye|lung induction|male gonad development|neuron differentiation|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	frizzled-2 binding|signal transducer activity			ovary(2)|breast(2)|skin(1)	5	Lung SC(450;0.246)	all_cancers(81;7.31e-07)|all_epithelial(167;4.59e-06)|all_lung(203;2.56e-05)|Lung NSC(69;4.38e-05)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CGAGAGTGTCAGCACCAATTC	0.602												
LRIG2	9860	broad.mit.edu	37	1	113666514	113666514	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr1:113666514G>A	uc001edf.1	+	18	3187	c.2989G>A	c.(2989-2991)GTG>ATG	p.V997M	LRIG2_uc009wgn.1_Missense_Mutation_p.V894M	NM_014813	NP_055628	O94898	LRIG2_HUMAN	leucine-rich repeats and immunoglobulin-like	997	Cytoplasmic (Potential).					cytoplasm|integral to membrane|plasma membrane				ovary(3)	3	Lung SC(450;0.246)	all_cancers(81;1.56e-05)|all_epithelial(167;2.62e-05)|all_lung(203;0.000665)|Lung NSC(69;0.000986)		Lung(183;0.0279)|Colorectal(144;0.0885)|COAD - Colon adenocarcinoma(174;0.134)|all cancers(265;0.139)|Epithelial(280;0.143)|LUSC - Lung squamous cell carcinoma(189;0.15)		GCAGCGGCCCGTGTGGAACAT	0.438												
MAGI3	260425	broad.mit.edu	37	1	114201800	114201800	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr1:114201800T>C	uc001edk.2	+	16	2909	c.2728T>C	c.(2728-2730)TCC>CCC	p.S910P	MAGI3_uc001edh.3_Missense_Mutation_p.S935P|MAGI3_uc001edi.3_Missense_Mutation_p.S910P|MAGI3_uc010owm.1_Missense_Mutation_p.S935P|MAGI3_uc001edj.2_Missense_Mutation_p.S631P	NM_001142782	NP_001136254	Q5TCQ9	MAGI3_HUMAN	membrane-associated guanylate kinase-related  3	935	Interaction with LPAR2 and GRIN2B.|PDZ 5.				apoptosis|interspecies interaction between organisms|intracellular signal transduction	nucleus|tight junction	ATP binding|guanylate kinase activity|protein binding			lung(3)|ovary(2)|central_nervous_system(1)	6	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GAATGGGCAGTCCATTGTTGA	0.453												
PHTF1	10745	broad.mit.edu	37	1	114247302	114247302	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr1:114247302G>A	uc009wgp.1	-	13	2241	c.1789C>T	c.(1789-1791)CGT>TGT	p.R597C	PHTF1_uc001edn.2_Missense_Mutation_p.R597C|PHTF1_uc001edm.2_Missense_Mutation_p.R354C	NM_006608	NP_006599	Q9UMS5	PHTF1_HUMAN	putative homeodomain transcription factor 1	597						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		AGATAGGAACGCAGTGATAAC	0.373												
PIAS3	10401	broad.mit.edu	37	1	145580520	145580520	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr1:145580520G>A	uc001eoc.1	+	7	911	c.820G>A	c.(820-822)GTG>ATG	p.V274M	NBPF10_uc001emp.3_Intron|PIAS3_uc010oyy.1_3'UTR|PIAS3_uc001eod.1_Translation_Start_Site	NM_006099	NP_006090	Q9Y6X2	PIAS3_HUMAN	protein inhibitor of activated STAT, 3	274	PINIT.				positive regulation of protein sumoylation|protein sumoylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck	enzyme binding|nucleic acid binding|protein C-terminus binding|zinc ion binding			ovary(1)	1	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					CTCCTTGTCTGTGTACCTGGT	0.512												
PRPF3	9129	broad.mit.edu	37	1	150307612	150307612	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr1:150307612A>G	uc001eum.3	+	7	1097	c.935A>G	c.(934-936)GAC>GGC	p.D312G	PRPF3_uc009wlp.2_RNA|PRPF3_uc010pca.1_Missense_Mutation_p.D271G|PRPF3_uc010pcb.1_Missense_Mutation_p.D263G|PRPF3_uc009wlq.1_RNA	NM_004698	NP_004689	O43395	PRPF3_HUMAN	PRP3 pre-mRNA processing factor 3 homolog	312					nuclear mRNA splicing, via spliceosome	Cajal body|cytoplasm|nuclear speck|spliceosomal complex	protein binding	p.D312E(1)		ovary(1)	1	Lung NSC(24;5.57e-29)|Breast(34;0.000844)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)	Colorectal(1306;0.0149)		ACCTTTTTTGACCCCCGAGTC	0.453												
RPRD2	23248	broad.mit.edu	37	1	150444651	150444651	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr1:150444651A>G	uc009wlr.2	+	11	3428	c.3227A>G	c.(3226-3228)GAT>GGT	p.D1076G	RPRD2_uc010pcc.1_3'UTR|RPRD2_uc001eup.3_Missense_Mutation_p.D1050G	NM_015203	NP_056018	Q5VT52	RPRD2_HUMAN	Regulation of nuclear pre-mRNA domain containing	1076							protein binding			ovary(1)	1						GACTTGCCTGATAGCACAGAA	0.537												
TCHH	7062	broad.mit.edu	37	1	152082386	152082386	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr1:152082386G>A	uc001ezp.2	-	2	3307	c.3307C>T	c.(3307-3309)CGC>TGC	p.R1103C	TCHH_uc009wne.1_Missense_Mutation_p.R1103C	NM_007113	NP_009044	Q07283	TRHY_HUMAN	trichohyalin	1103	10 X 30 AA tandem repeats.|4-7.				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)			CGCTCCTGGCGCCTTCTCTTC	0.174												
FLG	2312	broad.mit.edu	37	1	152283156	152283156	+	Silent	SNP	T	T	C			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr1:152283156T>C	uc001ezu.1	-	3	4242	c.4206A>G	c.(4204-4206)TCA>TCG	p.S1402S	uc001ezv.2_5'Flank	NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	1402	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTGAGTCTTCTGAATGTCCCT	0.567									Ichthyosis			
CRNN	49860	broad.mit.edu	37	1	152383276	152383276	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr1:152383276C>A	uc001ezx.2	-	3	356	c.282G>T	c.(280-282)GAG>GAT	p.E94D		NM_016190	NP_057274	Q9UBG3	CRNN_HUMAN	cornulin	94					cell-cell adhesion|response to heat	cytoplasm|membrane	calcium ion binding			ovary(2)|skin(1)	3	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CGCAGGCTCCCTCAGCACTCT	0.567												
SPRR2E	6704	broad.mit.edu	37	1	153066064	153066064	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr1:153066064G>T	uc001fbh.2	-	2	225	c.164C>A	c.(163-165)CCT>CAT	p.P55H	SPRR2D_uc009wnz.2_Intron|SPRR2A_uc001fbf.2_Intron|SPRR2A_uc009woa.2_Intron	NM_001024209	NP_001019380	P22531	SPR2E_HUMAN	small proline-rich protein 2E	55					keratinization	cornified envelope|cytoplasm	protein binding|structural molecule activity			ovary(1)	1	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			TGTCACAGGAGGACATTTTTG	0.557												
S100A16	140576	broad.mit.edu	37	1	153580105	153580105	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr1:153580105G>A	uc001fcc.2	-	3	350	c.217C>T	c.(217-219)CGC>TGC	p.R73C	S100A16_uc001fcd.1_Missense_Mutation_p.R73C	NM_080388	NP_525127	Q96FQ6	S10AG_HUMAN	S100 calcium binding protein A16	73	2; high affinity.|EF-hand 2.					cytosol|nucleolus	calcium ion binding|protein homodimerization activity				0	all_lung(78;1.84e-32)|Lung NSC(65;6.67e-31)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			AAGCTGATGCGCCCATCATGA	0.577												
THBS3	7059	broad.mit.edu	37	1	155165843	155165843	+	Missense_Mutation	SNP	C	C	T	rs140469044		TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr1:155165843C>T	uc001fix.2	-	22	2770	c.2747G>A	c.(2746-2748)CGT>CAT	p.R916H	RAG1AP1_uc010pey.1_Intron|THBS3_uc009wqi.2_Missense_Mutation_p.R907H|THBS3_uc001fiz.2_Missense_Mutation_p.R879H|THBS3_uc001fiy.2_Missense_Mutation_p.R445H|THBS3_uc010pfu.1_Missense_Mutation_p.R796H	NM_007112	NP_009043	P49746	TSP3_HUMAN	thrombospondin 3 precursor	916	TSP C-terminal.				cell-matrix adhesion	extracellular region|perinuclear region of cytoplasm	calcium ion binding|heparin binding|structural molecule activity			breast(3)|ovary(2)	5	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		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)			TACACCAAGACGCCCCCCTCG	0.498												
GBA	2629	broad.mit.edu	37	1	155206085	155206085	+	Missense_Mutation	SNP	C	C	T	rs11558184		TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr1:155206085C>T	uc001fjh.2	-	8	1325	c.1175G>A	c.(1174-1176)CGG>CAG	p.R392Q	RAG1AP1_uc010pey.1_Intron|GBA_uc010pfw.1_Missense_Mutation_p.R279Q|GBA_uc010pfx.1_Missense_Mutation_p.R343Q|GBA_uc001fji.2_Missense_Mutation_p.R392Q|GBA_uc001fjj.2_Missense_Mutation_p.R392Q|GBA_uc001fjk.2_Missense_Mutation_p.R392Q|GBA_uc001fjl.2_Missense_Mutation_p.R392Q|GBA_uc010pfy.1_Missense_Mutation_p.R305Q	NM_000157	NP_000148	P04062	GLCM_HUMAN	glucocerebrosidase precursor	392			R -> G (in GD).|R -> W (in GD; 5% of normal activity).		carbohydrate metabolic process|cell death|cellular response to tumor necrosis factor|ceramide biosynthetic process|glucosylceramide catabolic process|lysosome organization|negative regulation of interleukin-6 production|negative regulation of MAP kinase activity|positive regulation of protein dephosphorylation|sphingosine biosynthetic process|termination of signal transduction	lysosomal lumen|lysosomal membrane	cation binding|glucosylceramidase activity|receptor binding			ovary(1)|skin(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)		Alglucerase(DB00088)|Imiglucerase(DB00053)	GGAGCCTAGCCGCACACTCTG	0.592									Gaucher_disease_type_I			
GBA	2629	broad.mit.edu	37	1	155206139	155206139	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr1:155206139A>G	uc001fjh.2	-	8	1271	c.1121T>C	c.(1120-1122)ATG>ACG	p.M374T	RAG1AP1_uc010pey.1_Intron|GBA_uc010pfw.1_Missense_Mutation_p.M261T|GBA_uc010pfx.1_Missense_Mutation_p.M325T|GBA_uc001fji.2_Missense_Mutation_p.M374T|GBA_uc001fjj.2_Missense_Mutation_p.M374T|GBA_uc001fjk.2_Missense_Mutation_p.M374T|GBA_uc001fjl.2_Missense_Mutation_p.M374T|GBA_uc010pfy.1_Missense_Mutation_p.M287T	NM_000157	NP_000148	P04062	GLCM_HUMAN	glucocerebrosidase precursor	374					carbohydrate metabolic process|cell death|cellular response to tumor necrosis factor|ceramide biosynthetic process|glucosylceramide catabolic process|lysosome organization|negative regulation of interleukin-6 production|negative regulation of MAP kinase activity|positive regulation of protein dephosphorylation|sphingosine biosynthetic process|termination of signal transduction	lysosomal lumen|lysosomal membrane	cation binding|glucosylceramidase activity|receptor binding			ovary(1)|skin(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)		Alglucerase(DB00088)|Imiglucerase(DB00053)	GGCAAAGAGCATGGTGTTGGG	0.562									Gaucher_disease_type_I			
ASH1L	55870	broad.mit.edu	37	1	155324299	155324299	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr1:155324299T>C	uc009wqq.2	-	16	7673	c.7193A>G	c.(7192-7194)AAT>AGT	p.N2398S	RAG1AP1_uc010pey.1_Intron|ASH1L_uc001fkt.2_Missense_Mutation_p.N2393S	NM_018489	NP_060959	Q9NR48	ASH1L_HUMAN	absent, small, or homeotic 1-like	2398					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)			GCAGATCCCATTCCAACGGGT	0.318												
SMG5	23381	broad.mit.edu	37	1	156230321	156230321	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr1:156230321C>T	uc001foc.3	-	15	2353	c.2204G>A	c.(2203-2205)CGT>CAT	p.R735H	SMG5_uc009wrv.2_Missense_Mutation_p.R220H	NM_015327	NP_056142	Q9UPR3	SMG5_HUMAN	SMG5 homolog nonsense mediated mRNA decay	735					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)					GGGCAGGTTACGAAGAGCCAT	0.562												
C1orf85	112770	broad.mit.edu	37	1	156264628	156264628	+	Silent	SNP	T	T	C			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr1:156264628T>C	uc001foh.2	-	2	313	c.300A>G	c.(298-300)CTA>CTG	p.L100L	C1orf85_uc001fof.3_5'Flank|C1orf85_uc001fog.1_RNA|C1orf85_uc001foi.2_Silent_p.L100L|C1orf85_uc009wrx.2_Silent_p.L100L|C1orf85_uc001foj.2_Intron	NM_144580	NP_653181	Q8WWB7	NCUG1_HUMAN	kidney predominant protein NCU-G1 precursor	100	Lumenal (Potential).				positive regulation of transcription from RNA polymerase II promoter	cytosol|integral to membrane|lysosomal membrane|nucleus	ligand-dependent nuclear receptor activity|protein binding transcription factor activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			ovary(2)	2	Hepatocellular(266;0.158)					GCTCAGGGGATAGCAGGAGGC	0.592												
VHLL	391104	broad.mit.edu	37	1	156268937	156268937	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr1:156268937G>A	uc001fok.2	-	1	492	c.44C>T	c.(43-45)GCG>GTG	p.A15V		NM_001004319	NP_001004319	Q6RSH7	VHLL_HUMAN	von Hippel-Lindau tumor suppressor-like	15					protein ubiquitination	nucleus				ovary(1)	1	Hepatocellular(266;0.158)					CTGGGTGCCCGCCTGGGCCTC	0.617												
BCAN	63827	broad.mit.edu	37	1	156616821	156616821	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr1:156616821G>A	uc001fpp.2	+	3	656	c.320G>A	c.(319-321)CGC>CAC	p.R107H	BCAN_uc001fpo.2_Missense_Mutation_p.R107H	NM_021948	NP_068767	Q96GW7	PGCB_HUMAN	brevican isoform 1	107	Ig-like V-type.				cell adhesion	anchored to membrane|proteinaceous extracellular matrix	hyaluronic acid binding|sugar binding			ovary(1)|pancreas(1)	2	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TACCGGTTCCGCGTGGCACTG	0.677												
BCAN	63827	broad.mit.edu	37	1	156622146	156622146	+	Silent	SNP	A	A	G			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr1:156622146A>G	uc001fpp.2	+	8	1740	c.1404A>G	c.(1402-1404)GAA>GAG	p.E468E	BCAN_uc001fpo.2_Silent_p.E468E	NM_021948	NP_068767	Q96GW7	PGCB_HUMAN	brevican isoform 1	468	Glu-rich.				cell adhesion	anchored to membrane|proteinaceous extracellular matrix	hyaluronic acid binding|sugar binding			ovary(1)|pancreas(1)	2	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					aagaggaggaagaagaagagg	0.398												
ARHGEF11	9826	broad.mit.edu	37	1	156909341	156909341	+	Silent	SNP	T	T	C			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr1:156909341T>C	uc001fqo.2	-	36	5015	c.3975A>G	c.(3973-3975)AAA>AAG	p.K1325K	ARHGEF11_uc010phu.1_Silent_p.K741K|ARHGEF11_uc001fqn.2_Silent_p.K1365K	NM_014784	NP_055599	O15085	ARHGB_HUMAN	Rho guanine nucleotide exchange factor (GEF) 11	1325					actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cell growth|regulation of Rho protein signal transduction|Rho protein signal transduction|striated muscle contraction	cytosol|Golgi apparatus|plasma membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			ovary(3)|skin(2)|pleura(1)|lung(1)|kidney(1)|pancreas(1)	9	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					TTATTTTACCTTTTCTCACAA	0.493												
FCRL4	83417	broad.mit.edu	37	1	157548310	157548310	+	Silent	SNP	C	C	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr1:157548310C>T	uc001fqw.2	-	10	1519	c.1383G>A	c.(1381-1383)TTG>TTA	p.L461L	FCRL4_uc010phy.1_RNA	NM_031282	NP_112572	Q96PJ5	FCRL4_HUMAN	Fc receptor-like 4 precursor	461	Cytoplasmic (Potential).|ITIM motif 2.					integral to membrane|plasma membrane	receptor activity			ovary(2)|kidney(1)|skin(1)	4	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.245)				CAGAGTATACCAAATCTCCCT	0.393												
FCRL2	79368	broad.mit.edu	37	1	157738406	157738406	+	Silent	SNP	T	T	C			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr1:157738406T>C	uc001fre.2	-	5	740	c.681A>G	c.(679-681)TCA>TCG	p.S227S	FCRL2_uc001frd.2_5'Flank|FCRL2_uc010phz.1_Silent_p.S227S|FCRL2_uc009wsp.2_Intron	NM_030764	NP_110391	Q96LA5	FCRL2_HUMAN	Fc receptor-like 2 precursor	227	Ig-like C2-type 3.|Extracellular (Potential).				cell-cell signaling	integral to membrane|plasma membrane|soluble fraction	receptor activity|SH3/SH2 adaptor activity			ovary(1)|pancreas(1)	2	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			CCCCAGCCACTGAGCAGAGCA	0.532												
SPTA1	6708	broad.mit.edu	37	1	158615094	158615094	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr1:158615094G>A	uc001fst.1	-	29	4277	c.4078C>T	c.(4078-4080)CAC>TAC	p.H1360Y		NM_003126	NP_003117	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1360	Spectrin 13.				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)					CTAGCATGGTGCCCACTGTCG	0.502												
NHLH1	4807	broad.mit.edu	37	1	160340833	160340833	+	Silent	SNP	G	G	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr1:160340833G>A	uc001fwa.2	+	2	754	c.312G>A	c.(310-312)ACG>ACA	p.T104T		NM_005598	NP_005589	Q02575	HEN1_HUMAN	nescient helix loop helix 1	104	Helix-loop-helix motif.				cell differentiation|central nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			ovary(1)	1	all_cancers(52;7.11e-19)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TGCTGCCTACGCTGCCCCCCG	0.597												
SLAMF7	57823	broad.mit.edu	37	1	160718187	160718187	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr1:160718187G>T	uc001fwq.2	+	2	274	c.259G>T	c.(259-261)GGC>TGC	p.G87C	SLAMF7_uc010pjn.1_Intron|SLAMF7_uc001fws.2_Intron|SLAMF7_uc001fwr.2_Missense_Mutation_p.G87C|SLAMF7_uc010pjo.1_Missense_Mutation_p.G87C|SLAMF7_uc010pjp.1_Intron|SLAMF7_uc010pjq.1_Missense_Mutation_p.G87C|SLAMF7_uc010pjr.1_Intron	NM_021181	NP_067004	Q9NQ25	SLAF7_HUMAN	SLAM family member 7	87	Extracellular (Potential).				cell adhesion|natural killer cell activation|natural killer cell mediated cytotoxicity	integral to membrane	receptor activity			skin(2)|ovary(1)	3	all_cancers(52;2.63e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			CCCAGATGGAGGCTACTCCCT	0.502												
CD244	51744	broad.mit.edu	37	1	160803894	160803894	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr1:160803894T>C	uc009wtq.2	-	7	1100	c.922A>G	c.(922-924)ACG>GCG	p.T308A	CD244_uc001fxa.2_Missense_Mutation_p.T303A|CD244_uc009wtp.2_RNA|CD244_uc009wtr.2_Missense_Mutation_p.T211A	NM_016382	NP_057466	Q9BZW8	CD244_HUMAN	CD244 natural killer cell receptor 2B4	308	Cytoplasmic (Potential).				blood coagulation|leukocyte migration	integral to membrane|plasma membrane	protein binding|receptor activity			ovary(1)	1	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			TCTTGTGACGTGGGAGCAGAA	0.433												
USF1	7391	broad.mit.edu	37	1	161011148	161011148	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr1:161011148G>A	uc001fxi.2	-	7	721	c.526C>T	c.(526-528)CGC>TGC	p.R176C	F11R_uc010pjw.1_5'Flank|F11R_uc001fxf.3_5'Flank|TSTD1_uc010pjx.1_5'Flank|TSTD1_uc009wtw.2_5'Flank|TSTD1_uc001fxh.3_5'Flank|USF1_uc001fxj.2_Missense_Mutation_p.R117C	NM_007122	NP_009053	P22415	USF1_HUMAN	upstream stimulatory factor 1 isoform 1	176					cellular response to insulin stimulus|glucose homeostasis|late viral mRNA transcription|lipid homeostasis|positive regulation of transcription from RNA polymerase II promoter by glucose|response to hypoxia|response to UV	transcription factor complex	bHLH transcription factor binding|histone deacetylase binding|protein heterodimerization activity|protein homodimerization activity|protein kinase binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3	all_cancers(52;6.73e-18)|Breast(13;0.012)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)			GCAATTGAGCGCTGGCTTCCT	0.438												
USP21	27005	broad.mit.edu	37	1	161134845	161134845	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr1:161134845C>T	uc010pke.1	+	13	1896	c.1519C>T	c.(1519-1521)CTT>TTT	p.L507F	USP21_uc010pkf.1_Missense_Mutation_p.L507F|PPOX_uc001fyj.2_5'Flank|PPOX_uc001fyn.2_5'Flank|PPOX_uc001fyg.2_5'Flank|PPOX_uc001fyl.2_5'Flank|PPOX_uc001fym.2_5'Flank|PPOX_uc001fyk.2_5'Flank|PPOX_uc001fyh.2_5'Flank|PPOX_uc010pkg.1_5'Flank|PPOX_uc009wuc.1_5'Flank|PPOX_uc010pkh.1_5'Flank|PPOX_uc001fyi.2_5'Flank	NM_001014443	NP_001014443	Q9UK80	UBP21_HUMAN	ubiquitin-specific protease 21	507					histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	nucleus	metal ion binding|NEDD8-specific protease activity|protein binding|transcription coactivator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			ovary(2)|lung(1)|prostate(1)|breast(1)	5	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			GCTGTATGCCCTTTGCAACCA	0.542												
HSPA6	3310	broad.mit.edu	37	1	161494672	161494672	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr1:161494672T>C	uc001gap.2	+	2	884	c.224T>C	c.(223-225)CTG>CCG	p.L75P	HSPA6_uc001gaq.2_Missense_Mutation_p.L75P	NM_002155	NP_002146	P17066	HSP76_HUMAN	heat shock 70kDa protein 6 (HSP70B')	75					response to unfolded protein		ATP binding			skin(1)	1	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			GCCAAGCGGCTGATCGGGCGC	0.677												
NUF2	83540	broad.mit.edu	37	1	163310207	163310207	+	Silent	SNP	C	C	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr1:163310207C>T	uc001gcq.1	+	9	960	c.660C>T	c.(658-660)ACC>ACT	p.T220T	NUF2_uc001gcp.2_Silent_p.T220T|NUF2_uc001gcr.1_Silent_p.T220T|NUF2_uc009wvc.1_Silent_p.T220T	NM_145697	NP_663735	Q9BZD4	NUF2_HUMAN	NUF2, NDC80 kinetochore complex component	220	Interaction with the N-terminus of NDC80.|Potential.				cell division|chromosome segregation|mitotic prometaphase	condensed chromosome kinetochore|cytosol|Ndc80 complex|nucleus	protein binding			ovary(3)|skin(1)	4	all_hematologic(923;0.101)					CAGAGAAAACCAAGCGTTTGG	0.323												
MGST3	4259	broad.mit.edu	37	1	165623555	165623555	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr1:165623555C>T	uc001gdf.2	+	5	377	c.289C>T	c.(289-291)CGA>TGA	p.R97*	MGST3_uc001gdg.2_Nonsense_Mutation_p.R111*	NM_004528	NP_004519	O14880	MGST3_HUMAN	microsomal glutathione S-transferase 3	97					leukotriene biosynthetic process|leukotriene production involved in inflammatory response|signal transduction|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glutathione peroxidase activity|glutathione transferase activity				0	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)				Glutathione(DB00143)	GATTGTTGGACGAGTTCTTTA	0.353												
DCAF6	55827	broad.mit.edu	37	1	167971802	167971802	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr1:167971802G>A	uc001gew.2	+	8	1228	c.986G>A	c.(985-987)CGA>CAA	p.R329Q	DCAF6_uc001gev.2_Missense_Mutation_p.R329Q|DCAF6_uc001gex.2_Missense_Mutation_p.R329Q|DCAF6_uc010plk.1_Missense_Mutation_p.R298Q|DCAF6_uc001gey.2_Missense_Mutation_p.R182Q	NM_001017977	NP_001017977	Q58WW2	DCAF6_HUMAN	IQ motif and WD repeats 1 isoform b	329					positive regulation of transcription from RNA polymerase II promoter	CUL4 RING ubiquitin ligase complex|nucleus	ligand-dependent nuclear receptor transcription coactivator activity			ovary(1)|central_nervous_system(1)|skin(1)	3						GAGAGTGAACGAGAACGAGAT	0.338												
METTL13	51603	broad.mit.edu	37	1	171763553	171763553	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr1:171763553G>A	uc001ghz.2	+	7	2058	c.1711G>A	c.(1711-1713)GTC>ATC	p.V571I	METTL13_uc001gia.2_Missense_Mutation_p.V485I|METTL13_uc001gib.2_Missense_Mutation_p.V415I|METTL13_uc010pml.1_Missense_Mutation_p.V570I|METTL13_uc001gic.1_5'Flank	NM_015935	NP_057019	Q8N6R0	MTL13_HUMAN	CGI-01 protein isoform 1	571							methyltransferase activity|protein binding			kidney(1)	1						TTGCTACGATGTCATAATGTT	0.418												
TNR	7143	broad.mit.edu	37	1	175325505	175325505	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr1:175325505G>A	uc001gkp.1	-	14	3149	c.3068C>T	c.(3067-3069)GCC>GTC	p.A1023V	TNR_uc009wwu.1_Missense_Mutation_p.A1023V	NM_003285	NP_003276	Q92752	TENR_HUMAN	tenascin R precursor	1023	Fibronectin type-III 8.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				pancreas(5)|ovary(4)|central_nervous_system(1)|skin(1)	11	Renal(580;0.146)					TCCATTGGTGGCATACATGGT	0.512												
RASAL2	9462	broad.mit.edu	37	1	178427415	178427415	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr1:178427415A>G	uc001glr.2	+	12	2690	c.2565A>G	c.(2563-2565)ATA>ATG	p.I855M	RASAL2_uc001glq.2_Missense_Mutation_p.I996M|RASAL2_uc009wxc.2_Missense_Mutation_p.I369M	NM_004841	NP_004832	Q9UJF2	NGAP_HUMAN	RAS protein activator like 2 isoform 1	855					negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity			ovary(2)|breast(2)|large_intestine(1)	5						ATAGACACATACCTCTTGCTT	0.552												
MR1	3140	broad.mit.edu	37	1	181021588	181021588	+	Silent	SNP	C	C	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr1:181021588C>T	uc001goq.1	+	4	827	c.822C>T	c.(820-822)AAC>AAT	p.N274N	MR1_uc001gor.1_Silent_p.N229N|MR1_uc001gos.1_Intron|MR1_uc010pns.1_Intron	NM_001531	NP_001522	Q95460	HMR1_HUMAN	major histocompatibility complex, class	274	Extracellular (Potential).|Alpha-3.|Ig-like C1-type.				antigen processing and presentation of peptide antigen via MHC class I|immune response	endoplasmic reticulum|extracellular region|integral to membrane|MHC class I protein complex	MHC class I receptor activity			skin(1)	1						AGAGCAGCAACCTTTACTCCT	0.522												
LAMC2	3918	broad.mit.edu	37	1	183190061	183190061	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr1:183190061A>G	uc001gqa.2	+	5	919	c.605A>G	c.(604-606)TAC>TGC	p.Y202C	LAMC2_uc001gpz.3_Missense_Mutation_p.Y202C|LAMC2_uc010poa.1_Translation_Start_Site	NM_005562	NP_005553	Q13753	LAMC2_HUMAN	laminin, gamma 2 isoform a precursor	202					cell adhesion|epidermis development|hemidesmosome assembly		heparin binding			skin(2)|ovary(1)	3						TCTGCAGAATACAGTGTCCAT	0.448												
HMCN1	83872	broad.mit.edu	37	1	185964206	185964206	+	Silent	SNP	G	G	A	rs112519612		TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr1:185964206G>A	uc001grq.1	+	24	3994	c.3765G>A	c.(3763-3765)ACG>ACA	p.T1255T		NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	hemicentin 1 precursor	1255	Ig-like C2-type 9.				response to stimulus|visual perception	basement membrane	calcium ion binding			ovary(22)|skin(1)	23						CAGAGATAACGCTACATGTCC	0.428												
PRG4	10216	broad.mit.edu	37	1	186276818	186276818	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr1:186276818C>T	uc001gru.3	+	7	2018	c.1967C>T	c.(1966-1968)CCC>CTC	p.P656L	PRG4_uc001grt.3_Missense_Mutation_p.P615L|PRG4_uc009wyl.2_Missense_Mutation_p.P563L|PRG4_uc009wym.2_Missense_Mutation_p.P522L|PRG4_uc010poo.1_Intron	NM_005807	NP_005798	Q92954	PRG4_HUMAN	proteoglycan 4 isoform A	656	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity			skin(1)	1						CCTGAGGAGCCCACACCCACC	0.677												
TPR	7175	broad.mit.edu	37	1	186300667	186300667	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr1:186300667T>C	uc001grv.2	-	39	5948	c.5651A>G	c.(5650-5652)CAG>CGG	p.Q1884R		NM_003292	NP_003283	P12270	TPR_HUMAN	nuclear pore complex-associated protein TPR	1884					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)		GTTGTATACCTGAGTCTCTAC	0.363			T	NTRK1	papillary thyroid							
TROVE2	6738	broad.mit.edu	37	1	193050593	193050593	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr1:193050593G>A	uc001gss.2	+	6	1361	c.1186G>A	c.(1186-1188)GCT>ACT	p.A396T	TROVE2_uc001gst.1_Missense_Mutation_p.A121T|TROVE2_uc001gsu.1_Missense_Mutation_p.A121T|TROVE2_uc001gsv.1_Missense_Mutation_p.A396T|TROVE2_uc001gsw.2_Missense_Mutation_p.A396T|TROVE2_uc009wyp.2_Missense_Mutation_p.A396T|TROVE2_uc009wyq.2_Missense_Mutation_p.A396T|TROVE2_uc001gsx.1_Missense_Mutation_p.A396T	NM_004600	NP_004591	P10155	RO60_HUMAN	TROVE domain family, member 2 isoform 2	396					transcription from RNA polymerase III promoter	cytoplasm|nucleus|ribonucleoprotein complex	protein binding|RNA binding				0						TAGTACAGTTGCTGCAGCAAT	0.363												
PTPRC	5788	broad.mit.edu	37	1	198682089	198682089	+	Silent	SNP	A	A	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr1:198682089A>T	uc001gur.1	+	12	1353	c.1173A>T	c.(1171-1173)GGA>GGT	p.G391G	PTPRC_uc001gus.1_Silent_p.G343G|PTPRC_uc001gut.1_Silent_p.G230G|PTPRC_uc009wzf.1_Silent_p.G279G|PTPRC_uc010ppg.1_Silent_p.G327G	NM_002838	NP_002829	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	391	Extracellular (Potential).|Fibronectin type-III 1.				axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|skin(3)|ovary(2)|lung(1)|kidney(1)|pancreas(1)	12						CAGGTCCAGGAGAGCCTCAGA	0.318												
ZNF281	23528	broad.mit.edu	37	1	200376939	200376939	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr1:200376939C>T	uc001gve.2	-	2	2002	c.1895G>A	c.(1894-1896)CGA>CAA	p.R632Q	ZNF281_uc001gvf.1_Missense_Mutation_p.R632Q|ZNF281_uc001gvg.1_Missense_Mutation_p.R596Q	NM_012482	NP_036614	Q9Y2X9	ZN281_HUMAN	zinc finger protein 281	632					negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			ovary(1)|breast(1)	2						TAAATCCACTCGTGGTTCTGC	0.393												
DDX59	83479	broad.mit.edu	37	1	200628222	200628222	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr1:200628222C>T	uc009wzk.2	-	4	1238	c.995G>A	c.(994-996)CGA>CAA	p.R332Q	DDX59_uc010ppl.1_Missense_Mutation_p.R332Q	NM_001031725	NP_001026895	Q5T1V6	DDX59_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 59	332	Helicase ATP-binding.					intracellular	ATP binding|ATP-dependent helicase activity|metal ion binding|RNA binding			ovary(2)|breast(1)|central_nervous_system(1)	4						ATCCAGAAGTCGCCCAGGGGT	0.279												
CAMSAP1L1	23271	broad.mit.edu	37	1	200801853	200801853	+	Silent	SNP	T	T	C			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr1:200801853T>C	uc001gvl.2	+	7	1110	c.840T>C	c.(838-840)ACT>ACC	p.T280T	CAMSAP1L1_uc001gvk.2_Silent_p.T269T|CAMSAP1L1_uc001gvm.2_Silent_p.T269T	NM_203459	NP_982284	Q08AD1	CAMP2_HUMAN	calmodulin regulated spectrin-associated protein	280	CH.					cytoplasm|microtubule	protein binding			ovary(2)|large_intestine(1)|pancreas(1)	4						TGAAAGAAACTATGTCTTTGG	0.328												
C1orf106	55765	broad.mit.edu	37	1	200867455	200867455	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr1:200867455C>A	uc001gvo.2	+	2	212	c.182C>A	c.(181-183)CCT>CAT	p.P61H	C1orf106_uc010ppm.1_5'UTR	NM_018265	NP_060735	Q3KP66	CA106_HUMAN	hypothetical protein LOC55765 isoform 1	61										skin(2)|ovary(1)	3						TCCAGGCTACCTACACAACCT	0.493												
CHI3L1	1116	broad.mit.edu	37	1	203149635	203149635	+	Missense_Mutation	SNP	C	C	T	rs76446715	byFrequency	TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr1:203149635C>T	uc001gzi.2	-	8	1028	c.857G>A	c.(856-858)CGG>CAG	p.R286Q	FMOD_uc010pqi.1_Intron|CHI3L1_uc001gzk.1_Intron|CHI3L1_uc001gzj.2_Intron|CHI3L1_uc001gzl.3_5'Flank	NM_001276	NP_001267	P36222	CH3L1_HUMAN	chitinase 3-like 1 precursor	286					chitin catabolic process	extracellular space|proteinaceous extracellular matrix	cation binding|chitinase activity|extracellular matrix structural constituent|sugar binding			pancreas(1)	1						CTTGGTGAACCGGCCTGGAAT	0.582												
FMOD	2331	broad.mit.edu	37	1	203317092	203317092	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr1:203317092C>T	uc001gzr.2	-	2	443	c.307G>A	c.(307-309)GTT>ATT	p.V103I	FMOD_uc010pqi.1_RNA	NM_002023	NP_002014	Q06828	FMOD_HUMAN	fibromodulin precursor	103	LRRNT.				transforming growth factor beta receptor complex assembly	extracellular space|proteinaceous extracellular matrix				ovary(2)|breast(1)	3			BRCA - Breast invasive adenocarcinoma(75;0.171)			CGGGAGGGAACGAAGGGCAGG	0.577												
PIK3C2B	5287	broad.mit.edu	37	1	204438278	204438278	+	Missense_Mutation	SNP	C	C	G			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr1:204438278C>G	uc001haw.2	-	3	1132	c.653G>C	c.(652-654)GGT>GCT	p.G218A	PIK3C2B_uc010pqv.1_Missense_Mutation_p.G218A|PIK3C2B_uc001hax.1_Missense_Mutation_p.G218A|PIK3C2B_uc009xbd.1_RNA	NM_002646	NP_002637	O00750	P3C2B_HUMAN	phosphoinositide-3-kinase, class 2 beta	218	Interaction with GRB2.				cell communication|phosphatidylinositol-mediated signaling	endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding			lung(2)|breast(2)|stomach(1)|prostate(1)|central_nervous_system(1)	7	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			GCGCCCCTGACCCCCACCTCC	0.517												
NFASC	23114	broad.mit.edu	37	1	204985644	204985644	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr1:204985644A>G	uc001hbj.2	+	30	4028	c.3700A>G	c.(3700-3702)AAT>GAT	p.N1234D	NFASC_uc010pra.1_Missense_Mutation_p.N1168D|NFASC_uc001hbi.2_Missense_Mutation_p.N1163D|NFASC_uc010prb.1_Missense_Mutation_p.N1183D|NFASC_uc010prc.1_Missense_Mutation_p.N734D|NFASC_uc001hbl.1_Missense_Mutation_p.N310D|NFASC_uc001hbm.1_Missense_Mutation_p.N257D|NFASC_uc009xbh.1_Silent_p.S88S|NFASC_uc001hbo.1_Silent_p.S109S	NM_001005388	NP_001005388	O94856	NFASC_HUMAN	neurofascin isoform 1 precursor	1341	Cytoplasmic (Potential).				axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding			ovary(3)|breast(1)|central_nervous_system(1)|skin(1)	6	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			GTCACCTGTCAATGCTATCTA	0.547												
CNTN2	6900	broad.mit.edu	37	1	205041113	205041113	+	Silent	SNP	G	G	A	rs115143667	byFrequency	TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr1:205041113G>A	uc001hbr.2	+	20	2852	c.2583G>A	c.(2581-2583)GCG>GCA	p.A861A	CNTN2_uc001hbq.1_Silent_p.A752A|CNTN2_uc001hbs.2_Silent_p.A649A	NM_005076	NP_005067	Q02246	CNTN2_HUMAN	contactin 2 precursor	861	Fibronectin type-III 3.				axon guidance|clustering of voltage-gated potassium channels	anchored to membrane|juxtaparanode region of axon|myelin sheath|node of Ranvier|synapse part	identical protein binding			ovary(1)	1	all_cancers(21;0.144)|Breast(84;0.0437)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			AAGCAGCTGCGGACCGAGTGA	0.632												
DSTYK	25778	broad.mit.edu	37	1	205116774	205116774	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr1:205116774A>G	uc001hbw.2	-	13	2766	c.2702T>C	c.(2701-2703)ATT>ACT	p.I901T	DSTYK_uc001hbx.2_Missense_Mutation_p.I856T	NM_015375	NP_056190	Q6XUX3	DUSTY_HUMAN	receptor interacting protein kinase 5 isoform 1	901	Protein kinase.					cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			lung(1)	1						GGGCTGGACAATGCCCAAGAG	0.537												
TMCC2	9911	broad.mit.edu	37	1	205211172	205211172	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr1:205211172G>T	uc001hbz.1	+	3	1191	c.747G>T	c.(745-747)AAG>AAT	p.K249N	TMCC2_uc010prf.1_Missense_Mutation_p.K171N	NM_014858	NP_055673	O75069	TMCC2_HUMAN	transmembrane and coiled-coil domain family 2	249				TALLLADGSNVYLLAEEAEGIGDK -> MNQVVQPLMSRHS ACRGSQAHLSW (in Ref. 6).		integral to membrane	protein binding			pancreas(1)	1	Breast(84;0.0871)		BRCA - Breast invasive adenocarcinoma(75;0.117)			TCGGGGACAAGGTGAGATGGG	0.682												
PFKFB2	5208	broad.mit.edu	37	1	207241025	207241025	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr1:207241025T>G	uc001hfg.2	+	9	923	c.814T>G	c.(814-816)TCT>GCT	p.S272A	PFKFB2_uc010psc.1_Missense_Mutation_p.S174A|PFKFB2_uc001hfh.2_Missense_Mutation_p.S272A|PFKFB2_uc009xcc.2_Missense_Mutation_p.S230A|PFKFB2_uc010psd.1_Missense_Mutation_p.S86A	NM_006212	NP_006203	O60825	F262_HUMAN	6-phosphofructo-2-kinase/fructose-2,	272	Fructose-2,6-bisphosphatase.				fructose 2,6-bisphosphate metabolic process|glycolysis	cytosol	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity			ovary(1)	1	Prostate(682;0.19)					TGGGGGTGACTCTGGCCTCTC	0.478												
CR1	1378	broad.mit.edu	37	1	207679272	207679272	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr1:207679272C>T	uc001hfy.2	+	2	285	c.145C>T	c.(145-147)CTT>TTT	p.L49F	CR1_uc009xcl.1_Missense_Mutation_p.L49F|CR1_uc001hfx.2_Missense_Mutation_p.L49F|CR1_uc010psg.1_Missense_Mutation_p.L49F|CR1_uc009xcj.1_Missense_Mutation_p.L49F|CR1_uc009xck.1_Missense_Mutation_p.L49F	NM_000573	NP_000564	P17927	CR1_HUMAN	complement receptor 1 isoform F precursor	49	Sushi 1.|Extracellular (Potential).				complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity			ovary(3)	3						CCCAGAATGGCTTCCATTTGC	0.388												
USH2A	7399	broad.mit.edu	37	1	215812576	215812576	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr1:215812576G>T	uc001hku.1	-	69	15360	c.14973C>A	c.(14971-14973)TTC>TTA	p.F4991L		NM_206933	NP_996816	O75445	USH2A_HUMAN	usherin isoform B	4991	Fibronectin type-III 35.|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)		CCTGGAAAAAGAAGGCTAGAC	0.388										HNSCC(13;0.011)		
USH2A	7399	broad.mit.edu	37	1	215814033	215814033	+	Silent	SNP	A	A	C			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr1:215814033A>C	uc001hku.1	-	68	15222	c.14835T>G	c.(14833-14835)TCT>TCG	p.S4945S		NM_206933	NP_996816	O75445	USH2A_HUMAN	usherin isoform B	4945	Fibronectin type-III 35.|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)		CACACACCACAGACAAATTGC	0.527										HNSCC(13;0.011)		
USH2A	7399	broad.mit.edu	37	1	215847625	215847625	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr1:215847625C>A	uc001hku.1	-	63	14015	c.13628G>T	c.(13627-13629)AGG>ATG	p.R4543M		NM_206933	NP_996816	O75445	USH2A_HUMAN	usherin isoform B	4543	Fibronectin type-III 31.|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)		CTGAGGACCCCTGGCCTGCAA	0.488										HNSCC(13;0.011)		
RAB3GAP2	25782	broad.mit.edu	37	1	220363814	220363814	+	Silent	SNP	A	A	G			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr1:220363814A>G	uc010puk.1	-	15	1700	c.1536T>C	c.(1534-1536)AGT>AGC	p.S512S	RAB3GAP2_uc001hmf.2_RNA|RAB3GAP2_uc001hmg.2_Silent_p.S92S	NM_012414	NP_036546	Q9H2M9	RBGPR_HUMAN	rab3 GTPase-activating protein, non-catalytic	512					intracellular protein transport	cytoplasm|soluble fraction	GTPase activator activity|protein heterodimerization activity			central_nervous_system(1)	1				GBM - Glioblastoma multiforme(131;0.0443)		GCCAACTCTGACTGGTAACAT	0.393												
MOSC2	54996	broad.mit.edu	37	1	220928413	220928413	+	Silent	SNP	C	C	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr1:220928413C>T	uc001hmq.2	+	2	595	c.397C>T	c.(397-399)CTG>TTG	p.L133L	MOSC2_uc001hmr.2_Silent_p.L133L|MOSC2_uc009xdx.2_Silent_p.L133L	NM_017898	NP_060368	Q969Z3	MOSC2_HUMAN	MOCO sulphurase C-terminal domain containing 2	133						mitochondrial outer membrane|peroxisome	molybdenum ion binding|oxidoreductase activity|pyridoxal phosphate binding				0				GBM - Glioblastoma multiforme(131;0.00499)|all cancers(67;0.204)		CATGGACCAGCTGGTTTTGCC	0.532												
NVL	4931	broad.mit.edu	37	1	224424208	224424208	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr1:224424208G>A	uc001hok.2	-	20	2409	c.2366C>T	c.(2365-2367)ACG>ATG	p.T789M	NVL_uc001hol.2_Missense_Mutation_p.T683M|NVL_uc010pvd.1_Missense_Mutation_p.T698M|NVL_uc010pve.1_Missense_Mutation_p.T600M|NVL_uc010pvf.1_RNA	NM_002533	NP_002524	O15381	NVL_HUMAN	nuclear VCP-like isoform 1	789						aggresome|cytoplasm|nucleolus	ATP binding|nucleoside-triphosphatase activity			skin(2)	2				GBM - Glioblastoma multiforme(131;0.00501)		AAACACTTACGTATAGCAATC	0.219												
EPHX1	2052	broad.mit.edu	37	1	226027630	226027630	+	Missense_Mutation	SNP	A	A	G	rs35073925	byFrequency	TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr1:226027630A>G	uc001hpk.2	+	6	903	c.823A>G	c.(823-825)ACT>GCT	p.T275A	EPHX1_uc001hpl.2_Missense_Mutation_p.T275A	NM_001136018	NP_001129490	P07099	HYEP_HUMAN	epoxide hydrolase 1	275					aromatic compound catabolic process|response to toxin	endoplasmic reticulum membrane|integral to membrane|microsome	cis-stilbene-oxide hydrolase activity|epoxide hydrolase activity			ovary(3)|lung(1)	4	Breast(184;0.197)					TCTTGGCCTCACTGAGAGGGA	0.547												
C1orf55	163859	broad.mit.edu	37	1	226175749	226175749	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr1:226175749C>A	uc001hpu.3	-	6	1035	c.982G>T	c.(982-984)GAA>TAA	p.E328*	C1orf55_uc001hpv.2_Nonsense_Mutation_p.E328*	NM_152608	NP_689821	Q6IQ49	CA055_HUMAN	hypothetical protein LOC163859	328										lung(1)	1	Breast(184;0.197)					TCTATGGGTTCTTTACTCTCT	0.493												
LIN9	286826	broad.mit.edu	37	1	226426761	226426761	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr1:226426761G>A	uc001hqa.2	-	12	1514	c.1204C>T	c.(1204-1206)CGG>TGG	p.R402W	LIN9_uc001hqb.2_Missense_Mutation_p.R367W|LIN9_uc001hqc.2_Missense_Mutation_p.R334W|LIN9_uc009xel.1_Missense_Mutation_p.R367W	NM_173083	NP_775106	Q5TKA1	LIN9_HUMAN	lin-9 homolog	386	Potential.				cell cycle|DNA replication	nucleoplasm					0	Breast(184;0.158)			GBM - Glioblastoma multiforme(131;0.131)		GCATATCTCCGCTGAAATTCA	0.348												
TAF5L	27097	broad.mit.edu	37	1	229737984	229737984	+	Silent	SNP	G	G	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr1:229737984G>A	uc001htq.2	-	4	1096	c.930C>T	c.(928-930)GAC>GAT	p.D310D	TAF5L_uc001htr.2_Silent_p.D310D	NM_014409	NP_055224	O75529	TAF5L_HUMAN	PCAF associated factor 65 beta isoform a	310					histone H3 acetylation|transcription from RNA polymerase II promoter	STAGA complex|transcription factor TFTC complex	sequence-specific DNA binding transcription factor activity|transcription coactivator activity			ovary(1)	1	Breast(184;0.193)|Ovarian(103;0.249)	Prostate(94;0.167)				TGCGGGACACGTCTACTTGGT	0.463												
C1orf124	83932	broad.mit.edu	37	1	231488454	231488454	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr1:231488454A>T	uc001hur.2	+	5	1265	c.817A>T	c.(817-819)ATC>TTC	p.I273F	C1orf124_uc001hus.2_3'UTR|C1orf124_uc001hut.2_3'UTR	NM_032018	NP_114407	Q9H040	CA124_HUMAN	hypothetical protein LOC83932 isoform a	273					DNA repair	nuclear speck	DNA binding|metal ion binding				0	Breast(184;0.0871)	all_cancers(173;0.151)|Prostate(94;0.183)				TGGGAAACTGATCACTTCACA	0.373												
PCNXL2	80003	broad.mit.edu	37	1	233120166	233120166	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr1:233120166G>A	uc001hvl.2	-	34	6533	c.6298C>T	c.(6298-6300)CGA>TGA	p.R2100*	PCNXL2_uc001hvk.1_3'UTR|PCNXL2_uc001hvm.1_RNA	NM_014801	NP_055616	A6NKB5	PCX2_HUMAN	pecanex-like 2	2100						integral to membrane				central_nervous_system(1)|pancreas(1)	2		all_cancers(173;0.0347)|Prostate(94;0.137)				GCCAGACATCGGTCATGAAGC	0.597												
HEATR1	55127	broad.mit.edu	37	1	236740226	236740226	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr1:236740226G>T	uc001hyd.1	-	21	2904	c.2779C>A	c.(2779-2781)CTG>ATG	p.L927M	HEATR1_uc009xgh.1_Missense_Mutation_p.L170M	NM_018072	NP_060542	Q9H583	HEAT1_HUMAN	protein BAP28	927					rRNA processing	nucleolus|ribonucleoprotein complex	protein binding			ovary(2)|skin(1)	3	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			GGGCTTCCCAGGTTAATGAGT	0.373												
ACTN2	88	broad.mit.edu	37	1	236925910	236925910	+	Silent	SNP	C	C	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr1:236925910C>T	uc001hyf.2	+	21	2880	c.2676C>T	c.(2674-2676)AGC>AGT	p.S892S	ACTN2_uc001hyg.2_Silent_p.S684S|ACTN2_uc009xgi.1_Silent_p.S892S|ACTN2_uc010pxu.1_Silent_p.S581S|ACTN2_uc001hyh.2_Silent_p.S580S	NM_001103	NP_001094	P35609	ACTN2_HUMAN	actinin, alpha 2	892					focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc	actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding			ovary(4)|skin(1)	5	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			ACGGGGAGAGCGATCTGTGAT	0.507												
RYR2	6262	broad.mit.edu	37	1	237732550	237732550	+	Silent	SNP	C	C	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr1:237732550C>T	uc001hyl.1	+	29	3649	c.3529C>T	c.(3529-3531)CTG>TTG	p.L1177L		NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	1177	Cytoplasmic (By similarity).|4 X approximate repeats.|B30.2/SPRY 2.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GATGTTCACACTGAATGGTGA	0.458												
RYR2	6262	broad.mit.edu	37	1	237791158	237791158	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr1:237791158C>T	uc001hyl.1	+	41	6338	c.6218C>T	c.(6217-6219)TCT>TTT	p.S2073F		NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	2073	Cytoplasmic (By similarity).|4 X approximate repeats.				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)			GCTCAGGAGTCTGTCATTGAA	0.493												
WDR64	128025	broad.mit.edu	37	1	241912901	241912901	+	Silent	SNP	G	G	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr1:241912901G>T	uc001hzf.1	+	8	930	c.777G>T	c.(775-777)CCG>CCT	p.P259P	WDR64_uc001hzg.1_Silent_p.P5P	NM_144625	NP_653226	B1ANS9	WDR64_HUMAN	WD repeat domain 64	539	WD 7.									skin(1)	1	Ovarian(103;0.103)	all_cancers(173;0.0121)	OV - Ovarian serous cystadenocarcinoma(106;0.0116)			AGGTGTTGCCGGAGGGGAAAG	0.512												
MAP1LC3C	440738	broad.mit.edu	37	1	242159681	242159681	+	Silent	SNP	G	G	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr1:242159681G>A	uc001hzk.2	-	4	303	c.228C>T	c.(226-228)CGC>CGT	p.R76R		NM_001004343	NP_001004343	Q9BXW4	MLP3C_HUMAN	microtubule-associated protein 1 light chain 3	76					autophagy	autophagic vacuole membrane|cytoplasmic vesicle|endomembrane system|microtubule	protein binding			ovary(1)	1			OV - Ovarian serous cystadenocarcinoma(106;0.0188)			TCAGGACCATGCGGCTCCTGG	0.562												
CEP170	9859	broad.mit.edu	37	1	243303325	243303325	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr1:243303325C>T	uc001hzs.2	-	16	4552	c.4144G>A	c.(4144-4146)GGT>AGT	p.G1382S	CEP170_uc001hzt.2_Missense_Mutation_p.G1258S|CEP170_uc001hzu.2_Missense_Mutation_p.G1284S|CEP170_uc001hzr.2_5'UTR|CEP170_uc001hzv.1_Missense_Mutation_p.G734S	NM_014812	NP_055627	Q5SW79	CE170_HUMAN	centrosomal protein 170kDa isoform alpha	1382	Targeting to microtubules.|Targeting to centrosomes.					centriole|microtubule|spindle				ovary(1)|haematopoietic_and_lymphoid_tissue(1)	2	all_neural(11;0.101)	all_cancers(173;0.003)	all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101)			CCAGATCGACCGTTGTTTCCT	0.448												
ZNF496	84838	broad.mit.edu	37	1	247464263	247464263	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr1:247464263C>T	uc001ico.2	-	9	1787	c.1322G>A	c.(1321-1323)GGG>GAG	p.G441E	ZNF496_uc009xgv.2_Missense_Mutation_p.G477E|ZNF496_uc001icp.2_Missense_Mutation_p.G441E	NM_032752	NP_116141	Q96IT1	ZN496_HUMAN	zinc finger protein 496	441	C2H2-type 2.				positive regulation of transcription, DNA-dependent|viral reproduction		DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2	all_cancers(71;0.000136)|all_epithelial(71;2.62e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661)		OV - Ovarian serous cystadenocarcinoma(106;0.00703)			GAACAGCTCCCCGCACACCGA	0.637												
OR2G2	81470	broad.mit.edu	37	1	247751877	247751877	+	Silent	SNP	G	G	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr1:247751877G>A	uc010pyy.1	+	1	216	c.216G>A	c.(214-216)CTG>CTA	p.L72L		NM_001001915	NP_001001915	Q8NGZ5	OR2G2_HUMAN	olfactory receptor, family 2, subfamily G,	72	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	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)			TCTCCTTCCTGTACCGCTGCT	0.463												
OR2G3	81469	broad.mit.edu	37	1	247769166	247769166	+	Silent	SNP	T	T	G			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr1:247769166T>G	uc010pyz.1	+	1	279	c.279T>G	c.(277-279)ACT>ACG	p.T93T		NM_001001914	NP_001001914	Q8NGZ4	OR2G3_HUMAN	olfactory receptor, family 2, subfamily G,	93	Extracellular (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)			AGACGATCACTTACGGTGGTT	0.468												
OR2M5	127059	broad.mit.edu	37	1	248308964	248308964	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr1:248308964G>A	uc010pze.1	+	1	515	c.515G>A	c.(514-516)CGG>CAG	p.R172Q		NM_001004690	NP_001004690	A3KFT3	OR2M5_HUMAN	olfactory receptor, family 2, subfamily M,	172	Extracellular (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)			TGTGGGTCTCGGGAAATAGCC	0.428												
PITRM1	10531	broad.mit.edu	37	10	3180476	3180476	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr10:3180476C>A	uc010qah.1	-	23	2709	c.2677G>T	c.(2677-2679)GAG>TAG	p.E893*	PITRM1_uc001igr.1_3'UTR|PITRM1_uc001igs.1_Nonsense_Mutation_p.E96*|PITRM1_uc001igt.1_Nonsense_Mutation_p.E991*|PITRM1_uc009xhv.1_Nonsense_Mutation_p.E557*|PITRM1_uc001igu.1_Nonsense_Mutation_p.E917*|PITRM1_uc010qai.1_Nonsense_Mutation_p.E962*			E7ES23	E7ES23_HUMAN	SubName: Full=cDNA FLJ54065, moderately similar to Mus musculus pitrilysin metallepetidase 1 (Pitrm1), mRNA;	893					proteolysis		metalloendopeptidase activity|zinc ion binding			pancreas(1)	1						AAGAGCTGCTCTCTGTGGGCC	0.617												
NET1	10276	broad.mit.edu	37	10	5498109	5498109	+	Silent	SNP	C	C	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr10:5498109C>T	uc001iia.2	+	11	1395	c.1257C>T	c.(1255-1257)AAC>AAT	p.N419N	NET1_uc010qar.1_Silent_p.N238N|NET1_uc001iib.2_Silent_p.N365N|NET1_uc010qas.1_Silent_p.N238N	NM_001047160	NP_001040625	Q7Z628	ARHG8_HUMAN	neuroepithelial cell transforming gene 1 isoform	419	PH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of cell growth|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|nucleus	Rho guanyl-nucleotide exchange factor activity			breast(1)	1						TCACACGGAACGAACGGCACT	0.483												
TAF3	83860	broad.mit.edu	37	10	8006409	8006409	+	Silent	SNP	T	T	C			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr10:8006409T>C	uc010qbd.1	+	3	936	c.936T>C	c.(934-936)CCT>CCC	p.P312P		NM_031923	NP_114129	Q5VWG9	TAF3_HUMAN	RNA polymerase II transcription factor TAFII140	312					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						AGAAATCACCTGGACGTTcca	0.403												
FAM171A1	221061	broad.mit.edu	37	10	15290697	15290697	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr10:15290697G>A	uc001iob.2	-	5	702	c.695C>T	c.(694-696)ACG>ATG	p.T232M		NM_001010924	NP_001010924	Q5VUB5	F1711_HUMAN	hypothetical protein LOC221061 precursor	232	Extracellular (Potential).					integral to membrane				ovary(2)|breast(1)|skin(1)	4						GCTGCTCTGCGTGGCCAGGGG	0.602												
CUBN	8029	broad.mit.edu	37	10	16932369	16932369	+	Splice_Site	SNP	C	C	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr10:16932369C>T	uc001ioo.2	-	55	8807	c.8755_splice	c.e55+1	p.R2919_splice	CUBN_uc009xjq.1_Splice_Site|CUBN_uc009xjr.1_Splice_Site_p.R275_splice	NM_001081	NP_001072	O60494	CUBN_HUMAN	cubilin precursor						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)	GGGCTACTTACGGCTAACAAA	0.572												
STAM	8027	broad.mit.edu	37	10	17747022	17747022	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr10:17747022A>G	uc001ipj.1	+	11	1270	c.1054A>G	c.(1054-1056)AGA>GGA	p.R352G	STAM_uc009xjw.1_Intron	NM_003473	NP_003464	Q92783	STAM1_HUMAN	signal transducing adaptor molecule 1	352					cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway	cytosol|early endosome membrane	SH3/SH2 adaptor activity			large_intestine(1)|ovary(1)	2						AGATATTGATAGGTAAAAGAA	0.338												
KIAA1462	57608	broad.mit.edu	37	10	30336525	30336525	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr10:30336525G>A	uc001iux.2	-	1	276	c.217C>T	c.(217-219)CGC>TGC	p.R73C	KIAA1462_uc001iuy.2_Missense_Mutation_p.R73C|KIAA1462_uc001iuz.2_5'UTR|KIAA1462_uc009xle.1_Missense_Mutation_p.R73C	NM_020848	NP_065899	Q9P266	K1462_HUMAN	hypothetical protein LOC57608	73										ovary(4)	4						GGTGTGCTGCGGCGGCTTTCG	0.622												
MAP3K8	1326	broad.mit.edu	37	10	30748255	30748255	+	Silent	SNP	A	A	G			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr10:30748255A>G	uc001ivi.1	+	8	1794	c.1098A>G	c.(1096-1098)GAA>GAG	p.E366E	MAP3K8_uc009xlf.1_Silent_p.E366E|MAP3K8_uc001ivj.1_Silent_p.E366E	NM_005204	NP_005195	P41279	M3K8_HUMAN	mitogen-activated protein kinase kinase kinase	366	Protein kinase.				cell cycle|T cell costimulation	cytosol	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein binding			breast(3)|central_nervous_system(1)	4		Prostate(175;0.151)				AGCTGATAGAAGCTTCCCTGG	0.532												
ARHGAP12	94134	broad.mit.edu	37	10	32097965	32097965	+	Silent	SNP	A	A	G			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr10:32097965A>G	uc001ivz.1	-	18	2490	c.2220T>C	c.(2218-2220)CCT>CCC	p.P740P	ARHGAP12_uc001ivy.1_Silent_p.P686P|ARHGAP12_uc009xls.2_Silent_p.P691P|ARHGAP12_uc001iwb.1_Silent_p.P733P|ARHGAP12_uc001iwc.1_Silent_p.P708P|ARHGAP12_uc009xlq.1_Silent_p.P661P|ARHGAP12_uc001ivw.1_5'Flank|ARHGAP12_uc001ivx.1_Silent_p.P39P	NM_018287	NP_060757	Q8IWW6	RHG12_HUMAN	Rho GTPase activating protein 12	740	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity				0		Prostate(175;0.0199)				ATGTAAAAAGAGGTTCTGGTA	0.289												
PARD3	56288	broad.mit.edu	37	10	34558704	34558704	+	Silent	SNP	A	A	G			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr10:34558704A>G	uc010qej.1	-	22	3309	c.3309T>C	c.(3307-3309)TCT>TCC	p.S1103S	PARD3_uc010qek.1_Silent_p.S1100S|PARD3_uc010qel.1_Silent_p.S1066S|PARD3_uc010qem.1_Silent_p.S1087S|PARD3_uc010qen.1_Silent_p.S1057S|PARD3_uc010qeo.1_Silent_p.S1020S|PARD3_uc010qep.1_Silent_p.S1013S|PARD3_uc010qeq.1_Silent_p.S991S	NM_019619	NP_062565	Q8TEW0	PARD3_HUMAN	partitioning-defective protein 3 homolog	1103					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|asymmetric cell division|axonogenesis|cell cycle|establishment of epithelial cell polarity|protein complex assembly|protein targeting to membrane|tight junction assembly	cell cortex|cytoskeleton|cytosol|endomembrane system|tight junction	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding			ovary(1)	1		Breast(68;0.0707)				AACCTTCATAAGAAGAAACTC	0.468												
RASGEF1A	221002	broad.mit.edu	37	10	43696165	43696165	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr10:43696165C>T	uc001jap.1	-	5	712	c.631G>A	c.(631-633)GTG>ATG	p.V211M	RASGEF1A_uc001jao.1_Missense_Mutation_p.V219M	NM_145313	NP_660356	Q8N9B8	RGF1A_HUMAN	RasGEF domain family, member 1A	211					cell migration|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	Ras guanyl-nucleotide exchange factor activity				0						TCGCAGCACACGCCCAGGATG	0.652												
RASSF4	83937	broad.mit.edu	37	10	45488730	45488730	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr10:45488730C>T	uc001jbo.2	+	11	1053	c.919C>T	c.(919-921)CGT>TGT	p.R307C	RASSF4_uc001jbp.2_Missense_Mutation_p.R338C|RASSF4_uc009xmn.2_Missense_Mutation_p.R237C|RASSF4_uc001jbq.2_Missense_Mutation_p.R204C|RASSF4_uc001jbt.2_Missense_Mutation_p.R264C	NM_032023	NP_114412	Q9H2L5	RASF4_HUMAN	Ras association domain family 4	307	SARAH.				cell cycle|signal transduction		protein binding			large_intestine(1)	1						CCAAGCCCTGCGTCTGACGAT	0.622												
FAM21C	253725	broad.mit.edu	37	10	46248126	46248126	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr10:46248126A>G	uc001jcu.2	+	12	1193	c.1094A>G	c.(1093-1095)AAG>AGG	p.K365R	FAM21C_uc001jcs.1_Missense_Mutation_p.K310R|FAM21C_uc001jct.2_Missense_Mutation_p.K365R|FAM21C_uc010qfi.1_Missense_Mutation_p.K341R|FAM21C_uc010qfj.1_5'Flank	NM_015262	NP_056077	A8K5W5	A8K5W5_HUMAN	hypothetical protein LOC253725	365										ovary(1)	1						AGTGGCGGCAAGGGGCTATTT	0.552												
ANK3	288	broad.mit.edu	37	10	61868760	61868760	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr10:61868760G>A	uc001jky.2	-	27	3193	c.3001C>T	c.(3001-3003)CGT>TGT	p.R1001C	ANK3_uc001jkw.2_Missense_Mutation_p.R135C|ANK3_uc009xpa.2_Missense_Mutation_p.R135C|ANK3_uc001jkx.2_Missense_Mutation_p.R179C|ANK3_uc010qih.1_Missense_Mutation_p.R1002C|ANK3_uc001jkz.3_Missense_Mutation_p.R995C|ANK3_uc001jla.1_Missense_Mutation_p.R67C|ANK3_uc001jlb.1_Missense_Mutation_p.R519C	NM_020987	NP_066267	Q12955	ANK3_HUMAN	ankyrin 3 isoform 1	1001	ZU5.				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			skin(9)|ovary(6)|pancreas(2)|central_nervous_system(2)	19						CCGTGATGACGGCTTCCTCTC	0.527												
TET1	80312	broad.mit.edu	37	10	70450958	70450958	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr10:70450958C>T	uc001jok.3	+	12	6303	c.5798C>T	c.(5797-5799)CCG>CTG	p.P1933L		NM_030625	NP_085128	Q8NFU7	TET1_HUMAN	CXXC finger 6	1933					DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance		iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding			ovary(5)|lung(2)|prostate(1)|breast(1)	9						GTGACTGAGCCGCTAACGCCT	0.552												
CDH23	64072	broad.mit.edu	37	10	73544820	73544820	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr10:73544820C>T	uc001jrx.3	+	41	6052	c.5675C>T	c.(5674-5676)GCG>GTG	p.A1892V		NM_022124	NP_071407	Q9H251	CAD23_HUMAN	cadherin-like 23 isoform 1 precursor	1892	Cadherin 18.|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						AACATCACTGCGGGCAACCGC	0.602												
DNAJB12	54788	broad.mit.edu	37	10	74114622	74114622	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr10:74114622T>C	uc010qjv.1	-	1	286	c.136A>G	c.(136-138)ATC>GTC	p.I46V	DNAJB12_uc001jsz.2_Missense_Mutation_p.I46V|DNAJB12_uc001jta.2_Missense_Mutation_p.I46V	NM_017626	NP_060096	Q9NXW2	DJB12_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 12	12					protein folding	endoplasmic reticulum|integral to membrane	heat shock protein binding|unfolded protein binding				0						GCGATGCTGATACAGCGCTCA	0.677												
ECD	11319	broad.mit.edu	37	10	74894376	74894376	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr10:74894376C>T	uc001jtn.2	-	14	2143	c.1900G>A	c.(1900-1902)GAT>AAT	p.D634N	ECD_uc009xqx.2_Missense_Mutation_p.D667N|ECD_uc009xqy.2_Missense_Mutation_p.D591N|ECD_uc001jto.2_Missense_Mutation_p.D333N	NM_007265	NP_009196	O95905	SGT1_HUMAN	suppressor of S. cerevisiae gcr2 isoform 1	634					regulation of glycolysis|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	transcription coactivator activity			pancreas(1)	1	Prostate(51;0.0119)					GGTCTGTGATCGGTGTTGTCA	0.378												
SEC24C	9632	broad.mit.edu	37	10	75523277	75523277	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr10:75523277C>A	uc001juw.2	+	8	1196	c.1017C>A	c.(1015-1017)AAC>AAA	p.N339K	SEC24C_uc010qkn.1_Intron|SEC24C_uc009xrj.1_Missense_Mutation_p.N197K|SEC24C_uc001jux.2_Missense_Mutation_p.N339K|SEC24C_uc010qko.1_Missense_Mutation_p.N220K|SEC24C_uc010qkp.1_Intron|SEC24C_uc010qkq.1_Intron	NM_004922	NP_004913	P53992	SC24C_HUMAN	SEC24-related protein C	339					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|zinc ion binding			skin(2)|central_nervous_system(1)	3	Prostate(51;0.0112)					ACAGGAACAACCGGGGTACAG	0.488												
KCNMA1	3778	broad.mit.edu	37	10	78799284	78799284	+	Splice_Site	SNP	A	A	G			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr10:78799284A>G	uc001jxn.2	-	15	2036	c.1859_splice	c.e15+1	p.E620_splice	KCNMA1_uc001jxj.2_Splice_Site_p.E620_splice|KCNMA1_uc001jxk.1_Splice_Site_p.E235_splice|KCNMA1_uc009xrt.1_Splice_Site_p.E440_splice|KCNMA1_uc001jxl.1_Splice_Site_p.E274_splice|KCNMA1_uc001jxo.2_Splice_Site_p.E620_splice|KCNMA1_uc001jxm.2_Splice_Site_p.E620_splice|KCNMA1_uc001jxq.2_Splice_Site_p.E620_splice	NM_001161352	NP_001154824	Q12791	KCMA1_HUMAN	large conductance calcium-activated potassium						cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition	apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex	actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity			pancreas(2)|ovary(1)	3	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)	AAGGTCACTTACTCACAAACA	0.473												
KCNMA1	3778	broad.mit.edu	37	10	78844406	78844406	+	Silent	SNP	C	C	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr10:78844406C>T	uc001jxn.2	-	12	1689	c.1512G>A	c.(1510-1512)TCG>TCA	p.S504S	KCNMA1_uc001jxj.2_Silent_p.S504S|KCNMA1_uc001jxk.1_Silent_p.S119S|KCNMA1_uc009xrt.1_Silent_p.S324S|KCNMA1_uc001jxl.1_Silent_p.S158S|KCNMA1_uc001jxo.2_Silent_p.S504S|KCNMA1_uc001jxm.2_Silent_p.S504S|KCNMA1_uc001jxq.2_Silent_p.S504S	NM_001161352	NP_001154824	Q12791	KCMA1_HUMAN	large conductance calcium-activated potassium	504	RCK N-terminal.|Cytoplasmic (Potential).				cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition	apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex	actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity			pancreas(2)|ovary(1)	3	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)	TCATGATATTCGAGGCATCCT	0.532												
ZMIZ1	57178	broad.mit.edu	37	10	81053157	81053157	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr10:81053157A>C	uc001kaf.2	+	12	1549	c.977A>C	c.(976-978)TAT>TCT	p.Y326S	ZMIZ1_uc001kag.2_Missense_Mutation_p.Y202S|ZMIZ1_uc001kah.1_Missense_Mutation_p.Y208S	NM_020338	NP_065071	Q9ULJ6	ZMIZ1_HUMAN	retinoic acid induced 17	326					transcription, DNA-dependent	cytoplasm|nuclear speck	zinc ion binding			ovary(2)|breast(1)|skin(1)	4	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)			ACCCAGGCGTATAACAGCCAA	0.552												
KIF11	3832	broad.mit.edu	37	10	94392365	94392365	+	Silent	SNP	T	T	C			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr10:94392365T>C	uc001kic.2	+	13	1925	c.1617T>C	c.(1615-1617)AAT>AAC	p.N539N	KIF11_uc010qnq.1_Intron	NM_004523	NP_004514	P52732	KIF11_HUMAN	kinesin family member 11	539					blood coagulation|cell division|microtubule-based movement|spindle assembly involved in mitosis	chromatin remodeling complex|cytosol|kinesin complex|microtubule|spindle pole	ATP binding|microtubule motor activity|protein kinase binding			skin(1)	1						AAAACCTGAATAGTCTGTTTA	0.383												
EXOC6	54536	broad.mit.edu	37	10	94733809	94733809	+	Splice_Site	SNP	G	G	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr10:94733809G>T	uc001kig.2	+	18	1840	c.1774_splice	c.e18-1	p.D592_splice	EXOC6_uc010qnr.1_Splice_Site_p.D608_splice|EXOC6_uc001kie.2_Splice_Site_p.D587_splice|EXOC6_uc009xub.2_Splice_Site_p.D591_splice|EXOC6_uc009xuc.2_Splice_Site_p.D489_splice|EXOC6_uc001kih.2_Splice_Site|EXOC6_uc001kii.2_Splice_Site_p.D166_splice	NM_019053	NP_061926	Q8TAG9	EXOC6_HUMAN	SEC15-like 1 isoform a						protein transport|vesicle docking involved in exocytosis	exocyst				skin(1)	1		Colorectal(252;0.123)				TCCCATGTCAGGATGCTCGAC	0.318												
MYOF	26509	broad.mit.edu	37	10	95079681	95079681	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr10:95079681A>G	uc001kin.2	-	49	5669	c.5546T>C	c.(5545-5547)GTT>GCT	p.V1849A	MYOF_uc001kio.2_Missense_Mutation_p.V1836A|MYOF_uc009xue.2_RNA	NM_013451	NP_038479	Q9NZM1	MYOF_HUMAN	myoferlin isoform a	1849	Cytoplasmic (Potential).				blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding			ovary(3)|breast(1)	4						AAACGGGAAAACAAATCGCCA	0.438												
OPALIN	93377	broad.mit.edu	37	10	98105764	98105764	+	Silent	SNP	A	A	G			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr10:98105764A>G	uc001kmj.2	-	6	799	c.360T>C	c.(358-360)CGT>CGC	p.R120R	OPALIN_uc010qor.1_Silent_p.R110R|OPALIN_uc001kmi.2_Silent_p.R110R|OPALIN_uc001kmk.2_Silent_p.R97R|OPALIN_uc010qos.1_RNA	NM_033207	NP_149984	Q96PE5	OPALI_HUMAN	transmembrane protein 10 isoform a	120						Golgi apparatus|integral to membrane|plasma membrane					0						CTATAGTAGGACGGTAACGGT	0.517												
HPS1	3257	broad.mit.edu	37	10	100182223	100182223	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr10:100182223C>T	uc010qpf.1	-	17	1892	c.1646G>A	c.(1645-1647)CGC>CAC	p.R549H	HPS1_uc001kpi.1_Missense_Mutation_p.R550H|HPS1_uc001kpj.1_Missense_Mutation_p.R457H|HPS1_uc001kpk.1_Missense_Mutation_p.R374H	NM_000195	NP_000186	Q92902	HPS1_HUMAN	Hermansky-Pudlak syndrome 1 protein isoform a	549					lysosome organization|response to stimulus|visual perception	cytoplasmic membrane-bounded vesicle|integral to plasma membrane|lysosome|membrane fraction|soluble fraction	protein dimerization activity			skin(1)	1		Colorectal(252;0.234)		Epithelial(162;3.87e-12)|all cancers(201;5.63e-10)		CCCAGTGGTGCGGTCCACATA	0.562									Hermansky-Pudlak_syndrome			
ABCC2	1244	broad.mit.edu	37	10	101553677	101553677	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr10:101553677G>A	uc001kqf.2	+	5	636	c.497G>A	c.(496-498)TGC>TAC	p.C166Y		NM_000392	NP_000383	Q92887	MRP2_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP),	166	Helical; Name=5; (By similarity).					apical plasma membrane|integral to plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity			ovary(1)	1		Colorectal(252;0.234)		Epithelial(162;2.77e-10)|all cancers(201;2.47e-08)	Adenosine triphosphate(DB00171)|Norgestimate(DB00957)|Pravastatin(DB00175)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)	GCCTACTCCTGCCTGTTCTTC	0.388												
FAM178A	55719	broad.mit.edu	37	10	102710474	102710474	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr10:102710474A>C	uc001krt.3	+	17	3836	c.3294A>C	c.(3292-3294)GAA>GAC	p.E1098D	FAM178A_uc001krs.2_Missense_Mutation_p.E1098D	NM_018121	NP_060591	Q8IX21	F178A_HUMAN	hypothetical protein LOC55719 isoform 1	1098											0						TAGTCGGTGAAGTTAGTTGTT	0.294												
BTRC	8945	broad.mit.edu	37	10	103292822	103292822	+	Silent	SNP	G	G	T	rs61751508		TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr10:103292822G>T	uc001kta.2	+	9	1205	c.1092G>T	c.(1090-1092)ACG>ACT	p.T364T	BTRC_uc001ktb.2_Silent_p.T328T|BTRC_uc001ktc.2_Silent_p.T338T	NM_033637	NP_378663	Q9Y297	FBW1A_HUMAN	beta-transducin repeat containing protein	364	WD 2.				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|Wnt receptor signaling pathway	cytosol|nucleus|SCF ubiquitin ligase complex				ovary(1)	1		Colorectal(252;0.234)		Epithelial(162;1.05e-08)|all cancers(201;6.59e-07)		CGGATTCCACGGTCAGGTAGA	0.398												
PSD	5662	broad.mit.edu	37	10	104173805	104173805	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr10:104173805G>A	uc001kvg.1	-	5	1801	c.1274C>T	c.(1273-1275)TCG>TTG	p.S425L	PSD_uc001kvh.1_Missense_Mutation_p.S46L|PSD_uc009xxd.1_Missense_Mutation_p.S425L	NM_002779	NP_002770	A5PKW4	PSD1_HUMAN	pleckstrin and Sec7 domain containing	425					regulation of ARF protein signal transduction	cytoplasm|plasma membrane|ruffle	ARF guanyl-nucleotide exchange factor activity|signal transducer activity			breast(2)|urinary_tract(1)	3				Epithelial(162;1.27e-08)|all cancers(201;2.85e-07)		GGCCTCCAGCGAGGCGAGGCT	0.652												
COL17A1	1308	broad.mit.edu	37	10	105798255	105798255	+	Silent	SNP	G	G	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr10:105798255G>A	uc001kxr.2	-	45	3148	c.2979C>T	c.(2977-2979)GGC>GGT	p.G993G		NM_000494	NP_000485	Q9UMD9	COHA1_HUMAN	alpha 1 type XVII collagen	993	Extracellular (Potential).|Triple-helical region.				cell-matrix adhesion|epidermis development|hemidesmosome assembly	basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane	protein binding			ovary(4)|pancreas(1)	5		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		GCCCTGGCGGGCCTGACACGT	0.592												
SMC3	9126	broad.mit.edu	37	10	112343281	112343281	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr10:112343281A>G	uc001kze.2	+	11	1070	c.944A>G	c.(943-945)GAA>GGA	p.E315G		NM_005445	NP_005436	Q9UQE7	SMC3_HUMAN	structural maintenance of chromosomes 3	315	Potential.				cell division|DNA mediated transformation|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic spindle organization|negative regulation of DNA endoreduplication|signal transduction|sister chromatid cohesion	basement membrane|chromatin|chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nuclear matrix|nucleoplasm|spindle pole	ATP binding|dynein binding|microtubule motor activity|protein heterodimerization activity			ovary(1)|central_nervous_system(1)|skin(1)	3		Breast(234;0.0848)|Lung NSC(174;0.238)		Epithelial(162;0.00206)|all cancers(201;0.0227)|BRCA - Breast invasive adenocarcinoma(275;0.127)		TTACAAGATGAACTAGCAGGC	0.388												
EMX2	2018	broad.mit.edu	37	10	119305240	119305240	+	Silent	SNP	G	G	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr10:119305240G>A	uc001ldh.3	+	2	1327	c.504G>A	c.(502-504)AGG>AGA	p.R168R	EMX2OS_uc001ldg.2_5'Flank|EMX2_uc001ldi.3_Intron	NM_004098	NP_004089	Q04743	EMX2_HUMAN	empty spiracles homeobox 2 isoform 1	168	Homeobox.					nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0		Colorectal(252;0.109)|Lung NSC(174;0.179)|all_lung(145;0.22)		all cancers(201;0.0133)		AGCTTCTAAGGCTGGAACACG	0.607												
TIAL1	7073	broad.mit.edu	37	10	121339499	121339499	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr10:121339499A>G	uc001lei.1	-	6	959	c.395T>C	c.(394-396)ATG>ACG	p.M132T	TIAL1_uc001leh.1_Missense_Mutation_p.M110T|TIAL1_uc001lej.1_Missense_Mutation_p.M149T|TIAL1_uc001lek.1_Missense_Mutation_p.M9T|TIAL1_uc009xzi.1_Missense_Mutation_p.M1T|TIAL1_uc010qtb.1_Missense_Mutation_p.M9T	NM_003252	NP_003243	Q01085	TIAR_HUMAN	TIA-1 related protein isoform 1	132	RRM 2.				apoptosis|defense response|induction of apoptosis|regulation of transcription from RNA polymerase II promoter	lysosome|nucleus|stress granule	nucleotide binding|RNA binding			ovary(1)	1		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.00239)|BRCA - Breast invasive adenocarcinoma(275;0.0932)		TCCAGTTGCCATGTCTTTAAC	0.358												
TACC2	10579	broad.mit.edu	37	10	123892188	123892188	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr10:123892188G>A	uc001lfv.2	+	6	5998	c.5638G>A	c.(5638-5640)GCT>ACT	p.A1880T	TACC2_uc001lfw.2_Missense_Mutation_p.A71T|TACC2_uc009xzx.2_Missense_Mutation_p.A1880T|TACC2_uc010qtv.1_Missense_Mutation_p.A1929T|TACC2_uc001lfx.2_5'UTR|TACC2_uc001lfy.2_5'UTR	NM_206862	NP_996744	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing	1880						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)				CCCAACCTTAGCTGCCTCTTC	0.567												
DMBT1	1755	broad.mit.edu	37	10	124391375	124391375	+	Silent	SNP	C	C	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr10:124391375C>T	uc001lgk.1	+	47	6070	c.5964C>T	c.(5962-5964)AAC>AAT	p.N1988N	DMBT1_uc001lgl.1_Silent_p.N1978N|DMBT1_uc001lgm.1_Silent_p.N1360N|DMBT1_uc009xzz.1_Silent_p.N1988N|DMBT1_uc010qtx.1_Silent_p.N708N|DMBT1_uc009yab.1_Silent_p.N691N|DMBT1_uc009yac.1_Silent_p.N282N	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1 isoform b	1988					epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			central_nervous_system(7)	7		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				TTTCAGGAAACCATCTATCGA	0.493												
FAM24A	118670	broad.mit.edu	37	10	124671216	124671216	+	Silent	SNP	C	C	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr10:124671216C>T	uc001lgv.2	+	2	187	c.66C>T	c.(64-66)GCC>GCT	p.A22A		NM_001029888	NP_001025059	A6NFZ4	FA24A_HUMAN	family with sequence similarity 24, member A	22						extracellular region				ovary(2)	2		all_neural(114;0.169)|Glioma(114;0.222)		Colorectal(40;0.124)|COAD - Colon adenocarcinoma(40;0.141)		TACTGGTTGCCGCGATGGTGC	0.473												
BUB3	9184	broad.mit.edu	37	10	124917344	124917344	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr10:124917344T>C	uc001lhe.2	+	4	607	c.365T>C	c.(364-366)CTG>CCG	p.L122P	BUB3_uc009yah.2_Missense_Mutation_p.L74P|BUB3_uc001lhf.3_Missense_Mutation_p.L122P|BUB3_uc001lhd.2_Missense_Mutation_p.L122P|BUB3_uc010qud.1_Missense_Mutation_p.L42P	NM_004725	NP_004716	O43684	BUB3_HUMAN	budding uninhibited by benzimidazoles 3 isoform	122	WD 3.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|attachment of spindle microtubules to kinetochore|cell division|meiosis|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle	condensed chromosome kinetochore|cytosol|nucleus	protein binding			ovary(1)	1		all_neural(114;0.0765)|Colorectal(57;0.102)|all_lung(145;0.11)|Lung NSC(174;0.163)				ACAGTTAAACTGTGGGATCCC	0.448												
C10orf137	26098	broad.mit.edu	37	10	127412448	127412448	+	Silent	SNP	A	A	G			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr10:127412448A>G	uc001liq.1	+	4	746	c.453A>G	c.(451-453)GGA>GGG	p.G151G	C10orf137_uc001lin.2_Silent_p.G151G|C10orf137_uc001lio.1_Silent_p.G151G|C10orf137_uc001lip.1_5'UTR	NM_015608	NP_056423	Q3B7T1	EDRF1_HUMAN	erythroid differentiation-related factor 1	151					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	binding			ovary(5)|large_intestine(3)|lung(2)	10		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)				ACCGCATAGGAAGGACTCTCT	0.348												
DOCK1	1793	broad.mit.edu	37	10	128795065	128795065	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr10:128795065C>A	uc001ljt.2	+	7	591	c.527C>A	c.(526-528)CCA>CAA	p.P176Q	DOCK1_uc010qun.1_Missense_Mutation_p.P176Q	NM_001380	NP_001371	Q14185	DOCK1_HUMAN	dedicator of cytokinesis 1	176					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)		ATTTTGGATCCAGAATTAACT	0.378												
PAOX	196743	broad.mit.edu	37	10	135195102	135195102	+	Silent	SNP	G	G	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr10:135195102G>A	uc001lmv.2	+	3	887	c.807G>A	c.(805-807)TCG>TCA	p.S269S	PAOX_uc001lmw.2_RNA|PAOX_uc001lmx.2_Silent_p.S269S|PAOX_uc001lmy.2_Silent_p.S269S|PAOX_uc001lmz.2_RNA|PAOX_uc001lna.2_RNA|PAOX_uc001lnb.2_RNA|PAOX_uc001lnc.2_RNA	NM_152911	NP_690875	Q6QHF9	PAOX_HUMAN	polyamine oxidase isoform 1	407					polyamine biosynthetic process|xenobiotic metabolic process	peroxisomal matrix	polyamine oxidase activity				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)		all cancers(32;4.39e-07)|OV - Ovarian serous cystadenocarcinoma(35;1.21e-06)|Epithelial(32;1.94e-06)		TTCCAGTGTCGGTAGAGTGTG	0.582												
PAOX	196743	broad.mit.edu	37	10	135195153	135195153	+	Silent	SNP	C	C	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr10:135195153C>A	uc001lmv.2	+	3	938	c.858C>A	c.(856-858)ACC>ACA	p.T286T	PAOX_uc001lmw.2_RNA|PAOX_uc001lmx.2_Silent_p.T286T|PAOX_uc001lmy.2_Silent_p.T286T|PAOX_uc001lmz.2_RNA|PAOX_uc001lna.2_RNA|PAOX_uc001lnb.2_RNA|PAOX_uc001lnc.2_RNA	NM_152911	NP_690875	Q6QHF9	PAOX_HUMAN	polyamine oxidase isoform 1	424					polyamine biosynthetic process|xenobiotic metabolic process	peroxisomal matrix	polyamine oxidase activity				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)		all cancers(32;4.39e-07)|OV - Ovarian serous cystadenocarcinoma(35;1.21e-06)|Epithelial(32;1.94e-06)		TCATCGTCACCGTGCCCTTAG	0.617												
RIC8A	60626	broad.mit.edu	37	11	211202	211202	+	Silent	SNP	C	C	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr11:211202C>T	uc001log.2	+	5	1147	c.822C>T	c.(820-822)CAC>CAT	p.H274H	RIC8A_uc001lof.2_Silent_p.H274H|RIC8A_uc001loh.2_Silent_p.H267H	NM_021932	NP_068751	Q9NPQ8	RIC8A_HUMAN	resistance to inhibitors of cholinesterase 8	274						cytoplasm|plasma membrane	guanyl-nucleotide exchange factor activity				0		all_cancers(49;9.23e-07)|all_epithelial(84;0.000315)|Breast(177;0.00122)|Ovarian(85;0.0202)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;4.45e-27)|Epithelial(43;2.94e-26)|OV - Ovarian serous cystadenocarcinoma(40;5.86e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.105)|LUSC - Lung squamous cell carcinoma(625;0.122)		TCCCCAGCCACGCAGTGAACC	0.552												
NUP98	4928	broad.mit.edu	37	11	3721906	3721906	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr11:3721906C>T	uc001lyh.2	-	24	3967	c.3676G>A	c.(3676-3678)GTT>ATT	p.V1226I	NUP98_uc001lyi.2_Missense_Mutation_p.V1226I|NUP98_uc001lyg.2_Missense_Mutation_p.V191I	NM_016320	NP_057404	P52948	NUP98_HUMAN	nucleoporin 98kD isoform 1	1243					carbohydrate metabolic process|DNA replication|glucose transport|interspecies interaction between organisms|mitotic prometaphase|mRNA transport|nuclear pore organization|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear membrane|nucleoplasm|Nup107-160 complex	protein binding|structural constituent of nuclear pore|transporter activity			breast(4)|skin(3)|ovary(2)|central_nervous_system(1)|lung(1)|kidney(1)	12		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)		ATGACAGCAACTCCCAGATTG	0.413			T	HOXA9|NSD1|WHSC1L1|DDX10|TOP1|HOXD13|PMX1|HOXA13|HOXD11|HOXA11|RAP1GDS1|HOXC11	AML							
OR52J3	119679	broad.mit.edu	37	11	5068158	5068158	+	Missense_Mutation	SNP	G	G	A	rs143834741		TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr11:5068158G>A	uc010qyv.1	+	1	403	c.403G>A	c.(403-405)GCA>ACA	p.A135T		NM_001001916	NP_001001916	Q8NH60	O52J3_HUMAN	olfactory receptor, family 52, subfamily J,	135	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|lung(1)|skin(1)	3		Medulloblastoma(188;0.00131)|all_neural(188;0.0189)|Breast(177;0.0204)		Epithelial(150;9.29e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.19)		ACTACATTACGCAACCATCTT	0.483												
OR51B2	79345	broad.mit.edu	37	11	5344589	5344589	+	Silent	SNP	T	T	C			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr11:5344589T>C	uc001mao.1	-	1	994	c.939A>G	c.(937-939)TAA>TAG	p.*313*	HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron	NM_033180	NP_149420	Q9Y5P1	O51B2_HUMAN	olfactory receptor, family 51, subfamily B,	313					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)		AGATCCGAGTTTAACTACTAA	0.373												
TRIM22	10346	broad.mit.edu	37	11	5730360	5730360	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr11:5730360C>T	uc001mbr.2	+	8	1256	c.979C>T	c.(979-981)CGC>TGC	p.R327C	TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.1_Intron|TRIM22_uc009yes.2_Missense_Mutation_p.R323C|TRIM22_uc010qzm.1_Missense_Mutation_p.R155C|TRIM22_uc009yeu.2_Missense_Mutation_p.R138C|OR56B1_uc001mbs.1_Intron|OR56B1_uc009yev.1_Intron	NM_006074	NP_006065	Q8IYM9	TRI22_HUMAN	tripartite motif-containing 22	327	B30.2/SPRY.				immune response|interspecies interaction between organisms|protein trimerization|response to virus	Cajal body|Golgi apparatus|nuclear speck	ligase activity|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding				0		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;7.54e-09)|BRCA - Breast invasive adenocarcinoma(625;0.14)		GAAAACTGTACGCACCTGCAC	0.413												
OR52E6	390078	broad.mit.edu	37	11	5862840	5862840	+	Silent	SNP	A	A	G			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr11:5862840A>G	uc010qzq.1	-	1	288	c.288T>C	c.(286-288)TTT>TTC	p.F96F	TRIM5_uc001mbq.1_Intron	NM_001005167	NP_001005167	Q96RD3	O52E6_HUMAN	olfactory receptor, family 52, subfamily E,	96	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)	1		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.55e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGTAGCCTCCAAAAGATATTT	0.468												
OR56A4	120793	broad.mit.edu	37	11	6023400	6023400	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr11:6023400C>T	uc010qzv.1	-	1	979	c.979G>A	c.(979-981)GTC>ATC	p.V327I		NM_001005179	NP_001005179	Q8NGH8	O56A4_HUMAN	olfactory receptor, family 56, subfamily A,	275	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|skin(1)	2		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGGATGGGGACATCTGGAGGA	0.517												
CYB5R2	51700	broad.mit.edu	37	11	7694000	7694000	+	Silent	SNP	C	C	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr11:7694000C>T	uc001mfm.2	-	2	295	c.57G>A	c.(55-57)CCG>CCA	p.P19P	CYB5R2_uc001mfn.2_RNA|CYB5R2_uc009yfk.2_Silent_p.P19P|CYB5R2_uc009yfl.1_Silent_p.P19P	NM_016229	NP_057313	Q6BCY4	NB5R2_HUMAN	cytochrome b5 reductase b5R.2	19	FAD-binding FR-type.				sterol biosynthetic process	membrane|soluble fraction	cytochrome-b5 reductase activity				0				Epithelial(150;5.48e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		TCAAGGGCAGCGGGTACTTGG	0.552												
BTBD10	84280	broad.mit.edu	37	11	13435077	13435077	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr11:13435077T>C	uc001mkz.2	-	6	1065	c.808A>G	c.(808-810)AGT>GGT	p.S270G	BTBD10_uc010rcl.1_Missense_Mutation_p.S278G|BTBD10_uc001mla.2_Missense_Mutation_p.S254G|BTBD10_uc009ygn.2_RNA|BTBD10_uc010rcm.1_Missense_Mutation_p.S222G|BTBD10_uc010rcn.1_Missense_Mutation_p.S239G|BTBD10_uc009ygo.2_Missense_Mutation_p.S222G	NM_032320	NP_115696	Q9BSF8	BTBDA_HUMAN	K+ channel tetramerization protein	270						nucleus					0				Epithelial(150;0.0214)		TCATACTTACTGAGATCTCTA	0.323												
FAR1	84188	broad.mit.edu	37	11	13729476	13729476	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr11:13729476C>T	uc001mld.2	+	4	550	c.395C>T	c.(394-396)ACG>ATG	p.T132M	FAR1_uc009ygp.2_Missense_Mutation_p.T132M	NM_032228	NP_115604	Q8WVX9	FACR1_HUMAN	fatty acyl CoA reductase 1	132					ether lipid biosynthetic process	integral to membrane|peroxisomal matrix|peroxisomal membrane	protein binding			ovary(1)|skin(1)	2						GTGATTGCAACGCGACAGCTT	0.338												
SERGEF	26297	broad.mit.edu	37	11	18028253	18028253	+	Silent	SNP	C	C	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr11:18028253C>T	uc001mnm.2	-	3	317	c.237G>A	c.(235-237)GGG>GGA	p.G79G	SERGEF_uc009yhd.2_RNA|SERGEF_uc001mnn.2_Silent_p.G79G|SERGEF_uc010rcz.1_5'UTR|SERGEF_uc001mno.1_5'UTR	NM_012139	NP_036271	Q9UGK8	SRGEF_HUMAN	deafness locus associated putative guanine	79	RCC1 2.				negative regulation of protein secretion|signal transduction	cytoplasm|nucleus	protein binding|Ran guanyl-nucleotide exchange factor activity			central_nervous_system(1)	1						GCCCCAGTTGCCCATCTTTGT	0.473												
NAV2	89797	broad.mit.edu	37	11	19970272	19970272	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr11:19970272C>T	uc010rdm.1	+	11	2721	c.2360C>T	c.(2359-2361)ACG>ATG	p.T787M	NAV2_uc001mpp.2_Missense_Mutation_p.T700M|NAV2_uc001mpr.3_Missense_Mutation_p.T764M	NM_145117	NP_660093	Q8IVL1	NAV2_HUMAN	neuron navigator 2 isoform 2	787						nucleus	ATP binding|helicase activity			skin(4)|ovary(1)|pancreas(1)	6						AATGTCACCACGGAGATGAGT	0.517												
HTATIP2	10553	broad.mit.edu	37	11	20385903	20385903	+	Silent	SNP	G	G	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr11:20385903G>A	uc009yia.1	+	2	186	c.120G>A	c.(118-120)GAG>GAA	p.E40E	HTATIP2_uc009yib.1_Silent_p.E40E|HTATIP2_uc001mpx.2_Silent_p.E74E|HTATIP2_uc001mpz.2_Silent_p.E40E|HTATIP2_uc001mpy.3_Silent_p.E40E	NM_006410	NP_006401	Q9BUP3	HTAI2_HUMAN	HIV-1 Tat interactive protein 2, 30kDa isoform	40	NADP.				angiogenesis|anti-apoptosis|apoptosis|cell differentiation|cellular amino acid metabolic process|induction of apoptosis|interspecies interaction between organisms|nuclear import|regulation of angiogenesis|regulation of transcription from RNA polymerase II promoter	cytoplasm|nuclear envelope	NAD binding|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor|protein binding|transcription coactivator activity				0						AAATCCTGGAGCAGGGCCTGT	0.498												
FBXO3	26273	broad.mit.edu	37	11	33772171	33772171	+	Silent	SNP	C	C	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr11:33772171C>T	uc001muz.2	-	8	874	c.846G>A	c.(844-846)GGG>GGA	p.G282G	FBXO3_uc010rej.1_5'UTR|FBXO3_uc001muy.2_Silent_p.G169G|FBXO3_uc009ykb.2_RNA|FBXO3_uc001mva.1_Silent_p.G282G|FBXO3_uc001mvb.1_Silent_p.G277G|FBXO3_uc010rek.1_RNA	NM_012175	NP_036307	Q9UK99	FBX3_HUMAN	F-box only protein 3 isoform 1	282	ApaG.				proteolysis	nucleus	ubiquitin-protein ligase activity			pancreas(1)	1		Lung NSC(402;0.0804)		BRCA - Breast invasive adenocarcinoma(625;0.00315)|Lung(977;0.00488)|LUSC - Lung squamous cell carcinoma(625;0.008)		CAGTAATATCCCCAGTTGTTG	0.348												
RAG1	5896	broad.mit.edu	37	11	36595732	36595732	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr11:36595732G>A	uc001mwu.3	+	2	1002	c.878G>A	c.(877-879)TGC>TAC	p.C293Y	RAG1_uc001mwt.2_RNA	NM_000448	NP_000439	P15918	RAG1_HUMAN	recombination activating gene 1	293	RING-type.	Zinc 2 (By similarity).			histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination	nucleus	endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)|pancreas(1)|lung(1)|kidney(1)|skin(1)	5	all_lung(20;0.226)	all_hematologic(20;0.107)				TCCATCTCCTGCCAGATCTGT	0.488									Familial_Hemophagocytic_Lymphohistiocytosis			
API5	8539	broad.mit.edu	37	11	43356827	43356827	+	Splice_Site	SNP	G	G	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr11:43356827G>T	uc010rfh.1	+	12	1452	c.1279_splice	c.e12-1	p.D427_splice	API5_uc010rfg.1_Splice_Site_p.D416_splice|API5_uc001mxf.2_Splice_Site_p.D427_splice|API5_uc010rfi.1_Splice_Site_p.D373_splice|API5_uc001mxg.2_Splice_Site_p.D301_splice	NM_001142930	NP_001136402	Q9BZZ5	API5_HUMAN	apoptosis inhibitor 5 isoform a						anti-apoptosis|apoptosis	cytoplasm|spliceosomal complex	fibroblast growth factor binding			large_intestine(1)|ovary(1)|central_nervous_system(1)	3						TGTCTCTGCAGGATCTCTTCC	0.388												
ALKBH3	221120	broad.mit.edu	37	11	43911304	43911304	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr11:43911304T>C	uc001mxs.2	+	6	739	c.296T>C	c.(295-297)GTG>GCG	p.V99A	ALKBH3_uc009ykp.2_RNA|ALKBH3_uc001mxt.2_RNA|ALKBH3_uc009ykq.2_5'UTR	NM_139178	NP_631917	Q96Q83	ALKB3_HUMAN	AlkB homolog 3	99					DNA dealkylation involved in DNA repair|oxidative single-stranded DNA demethylation	mitochondrion|nucleoplasm	damaged DNA binding|DNA-N1-methyladenine dioxygenase activity|ferrous iron binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen				0					Vitamin C(DB00126)	TTTGTTGACGTGAAAGAAGCT	0.423								Direct_reversal_of_damage				
ALX4	60529	broad.mit.edu	37	11	44289061	44289061	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr11:44289061C>T	uc001myb.2	-	3	993	c.889G>A	c.(889-891)GCT>ACT	p.A297T		NM_021926	NP_068745	Q9H161	ALX4_HUMAN	aristaless-like homeobox 4	297					hair follicle development						0						TAGTTCTCAGCTCGGGTGAGG	0.632												
ALX4	60529	broad.mit.edu	37	11	44297062	44297062	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr11:44297062C>T	uc001myb.2	-	2	717	c.613G>A	c.(613-615)GCC>ACC	p.A205T		NM_021926	NP_068745	Q9H161	ALX4_HUMAN	aristaless-like homeobox 4	205					hair follicle development						0						TCTGAGTCGGCCTTCTCCAAT	0.622												
ZNF408	79797	broad.mit.edu	37	11	46727164	46727164	+	Silent	SNP	C	C	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr11:46727164C>A	uc001nde.1	+	5	2144	c.1914C>A	c.(1912-1914)CCC>CCA	p.P638P	ZNF408_uc010rgw.1_Silent_p.P630P	NM_024741	NP_079017	Q9H9D4	ZN408_HUMAN	zinc finger protein 408	638					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|identical protein binding|zinc ion binding				0						GCAGCCCACCCTCTGTGCCTT	0.662												
ACP2	53	broad.mit.edu	37	11	47264672	47264672	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr11:47264672C>T	uc001nei.2	-	9	976	c.859G>A	c.(859-861)GAC>AAC	p.D287N	ACP2_uc010rhe.1_Missense_Mutation_p.D259N|ACP2_uc009ylj.2_Missense_Mutation_p.D215N|ACP2_uc010rhf.1_Missense_Mutation_p.D255N|ACP2_uc010rhg.1_Missense_Mutation_p.D224N|ACP2_uc010rhh.1_Missense_Mutation_p.D100N|ACP2_uc010rhi.1_Missense_Mutation_p.D100N|ACP2_uc009ylk.2_Missense_Mutation_p.D254N	NM_001610	NP_001601	P11117	PPAL_HUMAN	acid phosphatase 2, lysosomal isoform 1	287	Lumenal (Potential).	Proton donor (By similarity).				integral to membrane|lysosomal lumen|lysosomal membrane	acid phosphatase activity			ovary(1)	1						AGGGTAGTGTCGTGCTGCGGG	0.567												
MADD	8567	broad.mit.edu	37	11	47307054	47307054	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr11:47307054G>A	uc001ner.1	+	14	2655	c.2464G>A	c.(2464-2466)GCA>ACA	p.A822T	MADD_uc001neq.2_Missense_Mutation_p.A822T|MADD_uc001nev.1_Missense_Mutation_p.A779T|MADD_uc001nes.1_Missense_Mutation_p.A779T|MADD_uc001net.1_Missense_Mutation_p.A822T|MADD_uc009yln.1_Missense_Mutation_p.A779T|MADD_uc001neu.1_Missense_Mutation_p.A779T|MADD_uc001nex.2_Missense_Mutation_p.A822T|MADD_uc001nez.2_Missense_Mutation_p.A779T|MADD_uc001new.2_Missense_Mutation_p.A822T	NM_003682	NP_003673	Q8WXG6	MADD_HUMAN	MAP-kinase activating death domain-containing	822					activation of MAPK activity|apoptosis|cell surface receptor linked signaling pathway|regulation of apoptosis|regulation of cell cycle	cytoplasm|integral to membrane|plasma membrane	death receptor binding|protein kinase activator activity|Rab guanyl-nucleotide exchange factor activity			ovary(5)|skin(4)|central_nervous_system(2)	11				Lung(87;0.182)		TGACTCAGATGCAGAGTCAGA	0.572												
KBTBD4	55709	broad.mit.edu	37	11	47599015	47599015	+	Silent	SNP	A	A	G			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr11:47599015A>G	uc001nfx.2	-	2	708	c.537T>C	c.(535-537)AAT>AAC	p.N179N	NDUFS3_uc001nft.3_Intron|KBTBD4_uc001nfw.1_Silent_p.N204N|KBTBD4_uc001nfz.2_Silent_p.N195N|KBTBD4_uc001nfy.2_Silent_p.N179N|NDUFS3_uc010rhn.1_5'Flank|NDUFS3_uc001nga.2_5'Flank	NM_016506	NP_057590	Q9NVX7	KBTB4_HUMAN	kelch repeat and BTB (POZ) domain containing 4	179	BACK.									ovary(1)|central_nervous_system(1)	2						ATTCCTCTGTATTCTGCAGCT	0.537												
NUP160	23279	broad.mit.edu	37	11	47859139	47859139	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr11:47859139A>G	uc001ngm.2	-	5	870	c.785T>C	c.(784-786)GTA>GCA	p.V262A	NUP160_uc009ylw.2_RNA	NM_015231	NP_056046	Q12769	NU160_HUMAN	nucleoporin 160kDa	262					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding			ovary(4)|lung(1)|central_nervous_system(1)|skin(1)	7						TCGTTGCATTACTGAACTCTG	0.448												
PTPRJ	5795	broad.mit.edu	37	11	48161113	48161113	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr11:48161113C>A	uc001ngp.3	+	11	2583	c.2228C>A	c.(2227-2229)CCT>CAT	p.P743H	PTPRJ_uc010rhr.1_Missense_Mutation_p.P188H	NM_002843	NP_002834	Q12913	PTPRJ_HUMAN	protein tyrosine phosphatase, receptor type, J	743	Extracellular (Potential).|Fibronectin type-III 8.				contact inhibition|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of T cell receptor signaling pathway|negative regulation of vascular permeability|platelet-derived growth factor receptor signaling pathway|positive chemotaxis|positive regulation of focal adhesion assembly|positive regulation of protein kinase B signaling cascade|positive regulation of survival gene product expression	cell surface|cell-cell junction|immunological synapse|integral to plasma membrane|ruffle membrane	beta-catenin binding|delta-catenin binding|gamma-catenin binding|mitogen-activated protein kinase binding|platelet-derived growth factor receptor binding|protein tyrosine phosphatase activity			breast(3)|kidney(3)|ovary(1)|skin(1)	8						TGGACCTGCCCTCCTGGCGCC	0.577												
OR4S1	256148	broad.mit.edu	37	11	48327840	48327840	+	Silent	SNP	G	G	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr11:48327840G>A	uc010rhu.1	+	1	66	c.66G>A	c.(64-66)CAG>CAA	p.Q22Q		NM_001004725	NP_001004725	Q8NGB4	OR4S1_HUMAN	olfactory receptor, family 4, subfamily S,	22	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1						GAGAGATGCAGCATACATGCT	0.463												
OR4C46	119749	broad.mit.edu	37	11	51515845	51515845	+	Silent	SNP	T	T	C			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr11:51515845T>C	uc010ric.1	+	1	564	c.564T>C	c.(562-564)ACT>ACC	p.T188T		NM_001004703	NP_001004703	A6NHA9	O4C46_HUMAN	olfactory receptor, family 4, subfamily C,	188	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1						TCGCCTGCACTGACACCCATA	0.458												
SPRYD5	84767	broad.mit.edu	37	11	55659079	55659079	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr11:55659079A>G	uc010rip.1	+	7	1422	c.1330A>G	c.(1330-1332)AGG>GGG	p.R444G	SPRYD5_uc010riq.1_Missense_Mutation_p.R301G	NM_032681	NP_116070	Q9BSJ1	SPRY5_HUMAN	SPRY domain containing 5	444	B30.2/SPRY.					intracellular	zinc ion binding				0		all_epithelial(135;0.226)				ACCTCCTCTCAGGCCTATCTT	0.448												
OR8K5	219453	broad.mit.edu	37	11	55927697	55927697	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr11:55927697C>T	uc010rja.1	-	1	97	c.97G>A	c.(97-99)GTC>ATC	p.V33I		NM_001004058	NP_001004058	Q8NH50	OR8K5_HUMAN	olfactory receptor, family 8, subfamily K,	33	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|pancreas(1)|skin(1)	4	Esophageal squamous(21;0.00693)	Lung NSC(402;0.197)|all_epithelial(135;0.236)				AGGTAGATGACGAGGAAGACT	0.433												
OR5T2	219464	broad.mit.edu	37	11	56000210	56000210	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr11:56000210C>A	uc010rjc.1	-	1	452	c.452G>T	c.(451-453)TGC>TTC	p.C151F		NM_001004746	NP_001004746	Q8NGG2	OR5T2_HUMAN	olfactory receptor, family 5, subfamily T,	151	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2	Esophageal squamous(21;0.00448)					CAAGAGAAAGCATTCTGTGGT	0.418												
P2RX3	5024	broad.mit.edu	37	11	57117371	57117371	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr11:57117371C>T	uc001nju.2	+	7	780	c.704C>T	c.(703-705)ACG>ATG	p.T235M		NM_002559	NP_002550	P56373	P2RX3_HUMAN	purinergic receptor P2X3	235	Extracellular (Potential).				positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling	integral to plasma membrane	ATP binding|extracellular ATP-gated cation channel activity|purinergic nucleotide receptor activity				0						CTGGCGCGCACGGTGAGGACC	0.637											OREG0020966	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
PRG3	10394	broad.mit.edu	37	11	57146997	57146997	+	Silent	SNP	C	C	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr11:57146997C>T	uc001njv.1	-	3	455	c.345G>A	c.(343-345)GTG>GTA	p.V115V		NM_006093	NP_006084	Q9Y2Y8	PRG3_HUMAN	proteoglycan 3 precursor	115	C-type lectin.				basophil activation|histamine biosynthetic process|immune response|leukotriene biosynthetic process|negative regulation of translation|neutrophil activation|positive regulation of interleukin-8 biosynthetic process|superoxide anion generation		sugar binding				0						TAGGAGTCCGCACCAATAGGT	0.512												
TIMM10	26519	broad.mit.edu	37	11	57296267	57296267	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr11:57296267C>A	uc001nkm.1	-	3	343	c.196G>T	c.(196-198)GGC>TGC	p.G66C		NM_012456	NP_036588	P62072	TIM10_HUMAN	translocase of inner mitochondrial membrane 10	66					protein import into mitochondrial inner membrane|sensory perception of sound|transmembrane transport	mitochondrial inner membrane presequence translocase complex|mitochondrial intermembrane space protein transporter complex	zinc ion binding				0						AACTTTTTGCCCATCCGCTCA	0.542												
MPEG1	219972	broad.mit.edu	37	11	58979300	58979300	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr11:58979300A>G	uc001nnu.3	-	1	1195	c.1039T>C	c.(1039-1041)TAC>CAC	p.Y347H		NM_001039396	NP_001034485	Q2M385	MPEG1_HUMAN	macrophage expressed gene 1 precursor	347	Extracellular (Potential).					integral to membrane				ovary(1)|skin(1)	2		all_epithelial(135;0.125)				CAGCCAGGGTAGGTGTTGAAT	0.502												
MS4A13	503497	broad.mit.edu	37	11	60296882	60296882	+	Silent	SNP	T	T	G			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr11:60296882T>G	uc001nps.2	+	6	674	c.351T>G	c.(349-351)GGT>GGG	p.G117G	MS4A13_uc009ync.2_Silent_p.G77G|MS4A13_uc009ynd.2_Silent_p.G58G	NM_001012417	NP_001012417	Q5J8X5	M4A13_HUMAN	membrane-spanning 4-domains, subfamily A, member	117	Helical; (Potential).					integral to membrane					0						TCTTCTACGGTTTGGAATTTT	0.353												
SLC22A11	55867	broad.mit.edu	37	11	64323478	64323478	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr11:64323478T>C	uc001oai.2	+	1	381	c.7T>C	c.(7-9)TTC>CTC	p.F3L	SLC22A11_uc001oah.1_Missense_Mutation_p.F3L|SLC22A11_uc001oaj.2_Missense_Mutation_p.F3L|SLC22A11_uc009ypq.2_Missense_Mutation_p.F3L	NM_018484	NP_060954	Q9NSA0	S22AB_HUMAN	solute carrier family 22 member 11	3	Cytoplasmic (Potential).				urate metabolic process	apical plasma membrane|external side of plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium-independent organic anion transmembrane transporter activity			ovary(1)|central_nervous_system(1)	2					Probenecid(DB01032)	GTTCATGGCGTTCTCGAAGCT	0.592											OREG0004031	type=REGULATORY REGION|Gene=SLC22A11|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay
SCYL1	57410	broad.mit.edu	37	11	65298235	65298235	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr11:65298235G>A	uc001oea.1	+	7	1062	c.985G>A	c.(985-987)GTT>ATT	p.V329I	SCYL1_uc009yqk.2_Missense_Mutation_p.V329I|SCYL1_uc001oeb.1_Missense_Mutation_p.V329I|SCYL1_uc001oec.1_Missense_Mutation_p.V329I|SCYL1_uc001oed.1_Missense_Mutation_p.V186I|SCYL1_uc001oee.1_5'UTR	NM_020680	NP_065731	Q96KG9	NTKL_HUMAN	SCY1-like 1 isoform A	329					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						TGCTGGGGCCGTTGTCCTCAC	0.622												
SNX32	254122	broad.mit.edu	37	11	65618601	65618601	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr11:65618601C>T	uc001ofr.2	+	7	806	c.679C>T	c.(679-681)CGG>TGG	p.R227W		NM_152760	NP_689973	Q86XE0	SNX32_HUMAN	sorting nexin 6B	227					cell communication|protein transport		phosphatidylinositol binding				0				READ - Rectum adenocarcinoma(159;0.171)		TGCCTGCCTGCGGGCCGACCG	0.632												
CPT1A	1374	broad.mit.edu	37	11	68542897	68542897	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr11:68542897C>T	uc001oog.3	-	13	1632	c.1462G>A	c.(1462-1464)GTC>ATC	p.V488I	CPT1A_uc001oof.3_Missense_Mutation_p.V488I|CPT1A_uc009ysj.2_Intron	NM_001876	NP_001867	P50416	CPT1A_HUMAN	carnitine palmitoyltransferase 1A liver isoform	488	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)	ATGGACATGACGTACTGTCAA	0.453												
ANO1	55107	broad.mit.edu	37	11	70017068	70017068	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr11:70017068T>G	uc001opj.2	+	22	2578	c.2273T>G	c.(2272-2274)ATC>AGC	p.I758S	ANO1_uc001opl.1_RNA|ANO1_uc010rqk.1_Missense_Mutation_p.I467S|ANO1_uc010rql.1_5'UTR	NM_018043	NP_060513	Q5XXA6	ANO1_HUMAN	anoctamin 1, calcium activated chloride channel	758	Cytoplasmic (Potential).				multicellular organismal development	chloride channel complex|cytoplasm|plasma membrane	intracellular calcium activated chloride channel activity			ovary(1)|pancreas(1)	2						CTGAACAACATCATCGAGATC	0.587												
UVRAG	7405	broad.mit.edu	37	11	75776823	75776823	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr11:75776823T>G	uc001oxc.2	+	13	1537	c.1296T>G	c.(1294-1296)AAT>AAG	p.N432K	UVRAG_uc010rrw.1_Missense_Mutation_p.N331K|UVRAG_uc001oxd.2_Missense_Mutation_p.N60K|UVRAG_uc010rrx.1_Missense_Mutation_p.N60K	NM_003369	NP_003360	Q9P2Y5	UVRAG_HUMAN	UV radiation resistance associated	432					DNA repair|positive regulation of autophagy	early endosome|late endosome|lysosome	protein binding			skin(4)|lung(2)	6						TGAACAAAAATATAGCACAGG	0.383												
FAT3	120114	broad.mit.edu	37	11	92088561	92088561	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr11:92088561G>A	uc001pdj.3	+	1	3300	c.3283G>A	c.(3283-3285)GAC>AAC	p.D1095N		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	FAT tumor suppressor homolog 3	1095	Cadherin 10.|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)				CAGTATAGACGACGAGAGTGG	0.453										TCGA Ovarian(4;0.039)		
FAT3	120114	broad.mit.edu	37	11	92533874	92533874	+	Silent	SNP	A	A	G			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr11:92533874A>G	uc001pdj.3	+	9	7712	c.7695A>G	c.(7693-7695)GAA>GAG	p.E2565E		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	FAT tumor suppressor homolog 3	2565	Cadherin 23.|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)				ACCCTCTAGAAGGGGATGTTA	0.478										TCGA Ovarian(4;0.039)		
PIWIL4	143689	broad.mit.edu	37	11	94340675	94340675	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr11:94340675G>A	uc001pfa.2	+	14	1920	c.1709G>A	c.(1708-1710)TGC>TAC	p.C570Y	PIWIL4_uc010rue.1_RNA|PIWIL4_uc009ywk.1_RNA	NM_152431	NP_689644	Q7Z3Z4	PIWL4_HUMAN	piwi-like 4	570	Piwi.				cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|meiosis|multicellular organismal development|piRNA metabolic process|regulation of translation|spermatogenesis	nucleus|piP-body	piRNA binding			skin(1)	1		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				AGCTCAGACTGCCCAGTCCCA	0.418												
CWC15	51503	broad.mit.edu	37	11	94696586	94696586	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr11:94696586T>A	uc001pfd.3	-	8	777	c.654A>T	c.(652-654)GAA>GAT	p.E218D		NM_016403	NP_057487	Q9P013	CWC15_HUMAN	CWC15 homolog	218					nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome	protein binding|RNA binding				0		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				TTTTGTGAAATTCAGATCGCA	0.333												
BIRC2	329	broad.mit.edu	37	11	102220626	102220626	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr11:102220626C>T	uc001pgy.2	+	2	1440	c.41C>T	c.(40-42)TCG>TTG	p.S14L	BIRC2_uc010ruq.1_Intron|BIRC2_uc010rur.1_Missense_Mutation_p.S14L	NM_001166	NP_001157	Q13490	BIRC2_HUMAN	baculoviral IAP repeat-containing protein 2	14					cell surface receptor linked signaling pathway|cellular component disassembly involved in apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteasomal ubiquitin-dependent protein catabolic process|protein polyubiquitination	CD40 receptor complex|cytosol|internal side of plasma membrane	protein N-terminus binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)|lung(1)|breast(1)	3	all_cancers(8;0.00044)|all_epithelial(12;0.00348)|Lung NSC(15;0.227)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0093)	Lung(13;0.109)|Epithelial(9;0.11)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0144)		CCAGGTCCCTCGTATCAAAAC	0.378												
MMP12	4321	broad.mit.edu	37	11	102742328	102742328	+	Silent	SNP	T	T	C			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr11:102742328T>C	uc001phk.2	-	4	666	c.621A>G	c.(619-621)TCA>TCG	p.S207S		NM_002426	NP_002417	P39900	MMP12_HUMAN	matrix metalloproteinase 12 preproprotein	207					positive regulation of epithelial cell proliferation involved in wound healing|proteolysis|wound healing, spreading of epidermal cells	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding				0		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.014)	Acetohydroxamic Acid(DB00551)	GCCCACCTCCTGAATGTGTAG	0.373												
DDI1	414301	broad.mit.edu	37	11	103907911	103907911	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr11:103907911G>A	uc001phr.2	+	1	604	c.361G>A	c.(361-363)GCT>ACT	p.A121T	PDGFD_uc001php.2_Intron|PDGFD_uc001phq.2_Intron	NM_001001711	NP_001001711	Q8WTU0	DDI1_HUMAN	DDI1, DNA-damage inducible 1, homolog 1	121					proteolysis		aspartic-type endopeptidase activity			large_intestine(3)|upper_aerodigestive_tract(1)|pancreas(1)	5		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164)		BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169)		GCGCACACCCGCTGCCCAGCG	0.677												
KBTBD3	143879	broad.mit.edu	37	11	105924490	105924490	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr11:105924490T>C	uc001pja.2	-	4	1566	c.926A>G	c.(925-927)CAA>CGA	p.Q309R	KBTBD3_uc001pjb.2_Missense_Mutation_p.Q309R|KBTBD3_uc009yxm.2_Missense_Mutation_p.Q230R	NM_198439	NP_940841	Q8NAB2	KBTB3_HUMAN	BTB and kelch domain containing 3	305	Kelch 1.									ovary(1)|central_nervous_system(1)	2		Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321)		BRCA - Breast invasive adenocarcinoma(274;5.43e-05)|Epithelial(105;0.00418)|all cancers(92;0.0299)		AAATGTATATTGATTTTCTCC	0.393												
CUL5	8065	broad.mit.edu	37	11	107925673	107925673	+	Silent	SNP	C	C	T	rs147410964	byFrequency	TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr11:107925673C>T	uc001pjv.2	+	7	1438	c.771C>T	c.(769-771)TCC>TCT	p.S257S	CUL5_uc001pju.2_RNA	NM_003478	NP_003469	Q93034	CUL5_HUMAN	Vasopressin-activated calcium-mobilizing	257					cell cycle arrest|cell proliferation|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process|viral reproduction	cullin-RING ubiquitin ligase complex|cytosol	calcium channel activity|receptor activity|ubiquitin protein ligase binding			ovary(1)	1		all_cancers(61;7.09e-10)|all_epithelial(67;2.97e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|Melanoma(852;4.48e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;3.58e-05)|Epithelial(105;4.68e-05)|all cancers(92;0.00122)|OV - Ovarian serous cystadenocarcinoma(223;0.217)		AATGTAACTCCGTTGAAGCAG	0.299												
ATM	472	broad.mit.edu	37	11	108117798	108117798	+	Missense_Mutation	SNP	C	C	T	rs138398778		TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr11:108117798C>T	uc001pkb.1	+	8	1394	c.1009C>T	c.(1009-1011)CGT>TGT	p.R337C	ATM_uc009yxr.1_Missense_Mutation_p.R337C	NM_000051	NP_000042	Q13315	ATM_HUMAN	ataxia telangiectasia mutated isoform 1	337			R -> C (in a colorectal adenocarcinoma sample; somatic mutation).|R -> H (in a colorectal adenocarcinoma sample; somatic mutation).		cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding	p.R337C(2)|p.R337S(2)|p.R337H(1)		haematopoietic_and_lymphoid_tissue(174)|lung(25)|breast(15)|large_intestine(9)|ovary(5)|kidney(5)|central_nervous_system(4)|upper_aerodigestive_tract(1)|stomach(1)|NS(1)	240		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		TTCAGGATTTCGTAATATTGC	0.323			D|Mis|N|F|S		T-PLL	leukemia|lymphoma|medulloblastoma|glioma		Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents	Ataxia_Telangiectasia	TSP Lung(14;0.12)		
LAYN	143903	broad.mit.edu	37	11	111414815	111414815	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr11:111414815T>C	uc001plr.1	+	3	613	c.277T>C	c.(277-279)TTC>CTC	p.F93L	LAYN_uc001plp.1_Missense_Mutation_p.F85L|LAYN_uc001plq.1_Missense_Mutation_p.F93L|LAYN_uc001pls.1_Missense_Mutation_p.F85L|LAYN_uc010rwg.1_5'UTR|LAYN_uc010rwh.1_5'UTR	NM_178834	NP_849156	Q6UX15	LAYN_HUMAN	layilin	93	C-type lectin.|Extracellular (Potential).					cell surface|integral to membrane|ruffle	hyaluronic acid binding|sugar binding				0		all_cancers(61;9.06e-10)|all_epithelial(67;1.34e-05)|Melanoma(852;1.74e-05)|all_hematologic(158;0.000885)|Acute lymphoblastic leukemia(157;0.000966)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Breast(348;0.086)		Epithelial(105;1.5e-06)|BRCA - Breast invasive adenocarcinoma(274;1.63e-06)|all cancers(92;2.45e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0476)		GATAGAAAAGTTCATTGAAAA	0.488												
HTR3B	9177	broad.mit.edu	37	11	113802574	113802574	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr11:113802574T>C	uc001pok.2	+	4	420	c.353T>C	c.(352-354)ATC>ACC	p.I118T	HTR3B_uc001pol.2_Missense_Mutation_p.I107T	NM_006028	NP_006019	O95264	5HT3B_HUMAN	5-hydroxytryptamine (serotonin) receptor 3B	118	Extracellular (Potential).				synaptic transmission	integral to plasma membrane|postsynaptic membrane	serotonin receptor activity|serotonin-activated cation-selective channel activity				0		all_cancers(61;6.81e-18)|all_epithelial(67;6.67e-11)|all_hematologic(158;4.67e-05)|Melanoma(852;0.000316)|Acute lymphoblastic leukemia(157;0.000976)|Breast(348;0.0101)|Prostate(24;0.0154)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.04e-06)|Epithelial(105;1.98e-05)|all cancers(92;0.000201)|OV - Ovarian serous cystadenocarcinoma(223;0.151)		GCCCCCGATATCATCATCAAT	0.453												
FAM55D	54827	broad.mit.edu	37	11	114453246	114453246	+	Silent	SNP	G	G	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr11:114453246G>A	uc001ppc.2	-	3	775	c.594C>T	c.(592-594)GGC>GGT	p.G198G	FAM55D_uc001ppd.2_Intron	NM_001077639	NP_001071107	Q6UWF7	FA55D_HUMAN	hypothetical protein LOC54827 isoform 1	198						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)		CCCTGTCATAGCCTTGGTTCC	0.527												
SIK3	23387	broad.mit.edu	37	11	116744643	116744643	+	Silent	SNP	T	T	C			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr11:116744643T>C	uc001ppy.2	-	12	1419	c.1383A>G	c.(1381-1383)CAA>CAG	p.Q461Q	SIK3_uc001ppz.2_Silent_p.Q360Q|SIK3_uc001pqa.2_Silent_p.Q413Q	NM_025164	NP_079440	Q9Y2K2	SIK3_HUMAN	serine/threonine-protein kinase QSK	461						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						GCCCGGTTGGTTGCAAGTTTT	0.517												
TTC36	143941	broad.mit.edu	37	11	118399499	118399499	+	Silent	SNP	C	C	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr11:118399499C>T	uc001ptg.1	+	2	300	c.300C>T	c.(298-300)GAC>GAT	p.D100D	TTC36_uc010ryb.1_RNA|TTC36_uc010ryc.1_Silent_p.D41D|TMEM25_uc010ryd.1_5'Flank|TMEM25_uc001ptk.3_5'Flank|TMEM25_uc010rye.1_5'Flank|TMEM25_uc001pth.2_5'Flank|TMEM25_uc009zad.2_5'Flank|TMEM25_uc001pti.2_5'Flank|TMEM25_uc010ryf.1_5'Flank|TMEM25_uc001ptl.2_5'Flank|TMEM25_uc001ptm.2_5'Flank|TMEM25_uc001ptn.2_5'Flank	NM_001080441	NP_001073910	A6NLP5	TTC36_HUMAN	tetratricopeptide repeat domain 36	100	TPR 2.						binding				0						TCCAGGGAGACGTGGCAGGTA	0.537												
TREH	11181	broad.mit.edu	37	11	118533631	118533631	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr11:118533631C>T	uc001pty.1	-	4	427	c.382G>A	c.(382-384)GCA>ACA	p.A128T	TREH_uc009zaj.1_Missense_Mutation_p.A128T|TREH_uc001ptz.1_Silent_p.G7G|TREH_uc009zak.2_Missense_Mutation_p.A128T	NM_007180	NP_009111	O43280	TREA_HUMAN	trehalase precursor	128					polysaccharide digestion|trehalose catabolic process	anchored to plasma membrane	alpha,alpha-trehalase activity			pancreas(1)	1	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.0564)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;3.16e-05)		AGCTGCCCTGCCCAGGCACGC	0.577												
C2CD2L	9854	broad.mit.edu	37	11	118982005	118982005	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr11:118982005G>T	uc001pvo.2	+	6	1190	c.831G>T	c.(829-831)CAG>CAT	p.Q277H	DPAGT1_uc010ryz.1_5'Flank|C2CD2L_uc001pvn.2_Missense_Mutation_p.Q277H	NM_014807	NP_055622	O14523	C2C2L_HUMAN	transmembrane protein 24	277						integral to membrane					0						TGATGCCCCAGGCTCAGCCAG	0.547												
OAF	220323	broad.mit.edu	37	11	120096472	120096472	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr11:120096472A>G	uc001pxb.2	+	2	575	c.334A>G	c.(334-336)ATC>GTC	p.I112V		NM_178507	NP_848602	Q86UD1	OAF_HUMAN	OAF homolog precursor	112											0		Breast(109;0.00663)|Medulloblastoma(222;0.0523)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)		CAATGAGATCATCCCCAGTGA	0.647												
GRIK4	2900	broad.mit.edu	37	11	120690602	120690602	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr11:120690602G>A	uc001pxn.2	+	6	771	c.484G>A	c.(484-486)GCC>ACC	p.A162T	GRIK4_uc009zav.1_Missense_Mutation_p.A162T|GRIK4_uc009zaw.1_Missense_Mutation_p.A162T|GRIK4_uc009zax.1_Missense_Mutation_p.A162T	NM_014619	NP_055434	Q16099	GRIK4_HUMAN	glutamate receptor KA1 precursor	162	Extracellular (Potential).				glutamate signaling pathway|synaptic transmission	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			ovary(2)|central_nervous_system(1)	3		Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21)		BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116)	L-Glutamic Acid(DB00142)	CTGCACCACCGCCTGCCTCAT	0.547												
TECTA	7007	broad.mit.edu	37	11	121038788	121038788	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr11:121038788A>G	uc010rzo.1	+	18	5612	c.5612A>G	c.(5611-5613)AAA>AGA	p.K1871R		NM_005422	NP_005413	O75443	TECTA_HUMAN	tectorin alpha precursor	1871	ZP.				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix				breast(6)|ovary(2)|skin(2)	10	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		ATCATGTATAAAAACACACTC	0.448												
BLID	414899	broad.mit.edu	37	11	121986495	121986495	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr11:121986495G>A	uc001pyf.2	-	1	429	c.136C>T	c.(136-138)CCA>TCA	p.P46S	LOC399959_uc009zba.2_Intron	NM_001001786	NP_001001786	Q8IZY5	BLID_HUMAN	BRCC2 protein	46					apoptosis	mitochondrion					0		Breast(109;0.0164)|Medulloblastoma(222;0.0523)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;2.08e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.101)		GCCTCCAGTGGCAGGCGTGCT	0.483											OREG0021435	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
UBASH3B	84959	broad.mit.edu	37	11	122659945	122659945	+	Silent	SNP	C	C	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr11:122659945C>T	uc001pyi.3	+	6	1269	c.909C>T	c.(907-909)ACC>ACT	p.T303T		NM_032873	NP_116262	Q8TF42	UBS3B_HUMAN	ubiquitin associated and SH3 domain containing,	303	SH3.					cytoplasm|nucleus	protein tyrosine phosphatase activity			central_nervous_system(1)	1		Breast(109;0.00254)|Medulloblastoma(222;0.00877)|Lung NSC(97;0.0183)|all_lung(97;0.0186)|all_neural(223;0.0381)|all_hematologic(192;0.104)		BRCA - Breast invasive adenocarcinoma(274;1.37e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0463)		CCTTAACCACCGGCTGCTCTG	0.522												
HSPA8	3312	broad.mit.edu	37	11	122928610	122928610	+	Silent	SNP	T	T	C			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr11:122928610T>C	uc001pyo.2	-	9	1851	c.1773A>G	c.(1771-1773)GAA>GAG	p.E591E	HSPA8_uc009zbc.2_Silent_p.E355E|HSPA8_uc001pyp.2_Intron|HSPA8_uc010rzu.1_Silent_p.E514E	NM_006597	NP_006588	P11142	HSP7C_HUMAN	heat shock 70kDa protein 8 isoform 1	591					cellular membrane organization|interspecies interaction between organisms|mRNA metabolic process|negative regulation of transcription, DNA-dependent|neurotransmitter secretion|post-Golgi vesicle-mediated transport|protein folding|response to unfolded protein|transcription, DNA-dependent	cell surface|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|melanosome|plasma membrane|ribonucleoprotein complex	ATP binding|ATPase activity, coupled|protein binding			central_nervous_system(7)|lung(1)	8		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		GATGTTCAAATTCTTCCTTCT	0.438												
OR10G8	219869	broad.mit.edu	37	11	123900482	123900482	+	Silent	SNP	T	T	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr11:123900482T>A	uc001pzp.1	+	1	153	c.153T>A	c.(151-153)TCT>TCA	p.S51S		NM_001004464	NP_001004464	Q8NGN5	O10G8_HUMAN	olfactory receptor, family 10, subfamily G,	51	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		GGGTGGATTCTCACCTCCACA	0.552												
OR8B12	219858	broad.mit.edu	37	11	124413190	124413190	+	Missense_Mutation	SNP	G	G	A	rs148702196		TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr11:124413190G>A	uc010sam.1	-	1	361	c.361C>T	c.(361-363)CGC>TGC	p.R121C		NM_001005195	NP_001005195	Q8NGG6	OR8BC_HUMAN	olfactory receptor, family 8, subfamily B,	121	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|breast(1)|skin(1)	3		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0213)		GCCACGTAGCGGTCATACGCC	0.502												
NFRKB	4798	broad.mit.edu	37	11	129754692	129754692	+	Silent	SNP	C	C	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr11:129754692C>T	uc001qfi.2	-	7	891	c.690G>A	c.(688-690)GCG>GCA	p.A230A	NFRKB_uc001qfg.2_Silent_p.A255A|NFRKB_uc001qfh.2_Silent_p.A253A|NFRKB_uc010sbw.1_Silent_p.A242A	NM_001143835	NP_001137307	Q6P4R8	NFRKB_HUMAN	nuclear factor related to kappaB binding protein	230					DNA recombination|DNA repair|inflammatory response|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Ino80 complex	DNA binding|protease binding			ovary(3)	3	all_hematologic(175;0.0537)	Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0167)|Lung(977;0.171)|LUSC - Lung squamous cell carcinoma(976;0.184)		GCAGGGGCACCGCAGGACTAG	0.527												
CHD4	1108	broad.mit.edu	37	12	6687040	6687040	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr12:6687040A>G	uc001qpo.2	-	37	5436	c.5272T>C	c.(5272-5274)TAT>CAT	p.Y1758H	CHD4_uc001qpn.2_Missense_Mutation_p.Y1751H|CHD4_uc001qpp.2_Missense_Mutation_p.Y1783H|uc001qpq.1_5'Flank	NM_001273	NP_001264	Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	1758	Required for interaction with PCNT.				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						AGGATGGCATAGCGTGGGTCA	0.433												
ACRBP	84519	broad.mit.edu	37	12	6749557	6749557	+	Silent	SNP	G	G	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr12:6749557G>T	uc001qpu.1	-	7	1257	c.1209C>A	c.(1207-1209)CCC>CCA	p.P403P	LPAR5_uc010sff.1_5'Flank|ACRBP_uc001qpt.1_5'Flank|ACRBP_uc010sfg.1_Silent_p.P370P	NM_032489	NP_115878	Q8NEB7	ACRBP_HUMAN	proacrosin binding protein sp32 precursor	403						acrosomal vesicle|extracellular region				central_nervous_system(1)	1						GGCTGACAAAGGGAGTCTTGT	0.617												
USP5	8078	broad.mit.edu	37	12	6964649	6964649	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr12:6964649G>A	uc001qri.3	+	2	255	c.196G>A	c.(196-198)GGC>AGC	p.G66S	USP5_uc001qrh.3_Missense_Mutation_p.G66S	NM_001098536	NP_001092006	P45974	UBP5_HUMAN	ubiquitin specific peptidase 5 isoform 1	66					positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process	lysosome	cysteine-type endopeptidase activity|omega peptidase activity|protein binding|ubiquitin thiolesterase activity|zinc ion binding			lung(2)|breast(1)|skin(1)	4						CAATAAGACCGGCCAGCGAGT	0.567												
PHB2	11331	broad.mit.edu	37	12	7077645	7077645	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr12:7077645T>C	uc001qsd.2	-	4	616	c.406A>G	c.(406-408)ATT>GTT	p.I136V	PHB2_uc010sft.1_Missense_Mutation_p.I136V|PHB2_uc010sfu.1_Missense_Mutation_p.I136V|PHB2_uc001qse.1_5'Flank|PHB2_uc001qsf.1_5'Flank|PHB2_uc009zfn.1_5'Flank|SCARNA12_uc001qsg.2_5'Flank	NM_001144831	NP_001138303	Q99623	PHB2_HUMAN	prohibitin 2 isoform 1	136					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial inner membrane|nucleus	estrogen receptor binding|receptor activity			ovary(2)|pancreas(1)	3						TCGTTGACAATGGACGGCAAC	0.577												
CLEC4A	50856	broad.mit.edu	37	12	8281918	8281918	+	Silent	SNP	T	T	C			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr12:8281918T>C	uc001qtz.1	+	3	505	c.258T>C	c.(256-258)CAT>CAC	p.H86H	CLEC4A_uc009zga.1_Silent_p.H47H|CLEC4A_uc001qub.1_Intron|CLEC4A_uc001quc.1_Intron|CLEC4A_uc009zgb.1_Intron	NM_016184	NP_057268	Q9UMR7	CLC4A_HUMAN	C-type lectin domain family 4, member A isoform	86	Extracellular (Potential).				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)		AGCTGGTTCATACAACATTGG	0.333												
PLBD1	79887	broad.mit.edu	37	12	14664529	14664529	+	Silent	SNP	G	G	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr12:14664529G>A	uc001rcc.1	-	7	1122	c.961C>T	c.(961-963)CTG>TTG	p.L321L		NM_024829	NP_079105	Q6P4A8	PLBL1_HUMAN	phospholipase B domain containing 1	321					lipid catabolic process	extracellular region	hydrolase activity				0						TGCCAGGACAGGAGAGTCTCG	0.448												
ART4	420	broad.mit.edu	37	12	14993873	14993873	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr12:14993873G>T	uc001rcl.1	-	2	725	c.359C>A	c.(358-360)GCT>GAT	p.A120D	ART4_uc009zid.1_Intron|ART4_uc009zie.1_Intron|ART4_uc001rcm.1_Missense_Mutation_p.A120D	NM_021071	NP_066549	Q93070	NAR4_HUMAN	ADP-ribosyltransferase 4 precursor	120					arginine metabolic process|protein ADP-ribosylation	anchored to membrane|plasma membrane	NAD(P)+-protein-arginine ADP-ribosyltransferase activity				0						AATAGCCACAGCGTGTGTGGT	0.433												
CMAS	55907	broad.mit.edu	37	12	22208418	22208418	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr12:22208418A>G	uc001rfm.2	+	3	512	c.433A>G	c.(433-435)ACT>GCT	p.T145A	CMAS_uc001rfn.2_RNA	NM_018686	NP_061156	Q8NFW8	NEUA_HUMAN	cytidine monophospho-N-acetylneuraminic acid	145					lipopolysaccharide biosynthetic process	nucleus	N-acylneuraminate cytidylyltransferase activity			ovary(1)|pancreas(1)|skin(1)	3						TATTCAAGCTACTTCTCCATG	0.328												
KRAS	3845	broad.mit.edu	37	12	25398281	25398281	+	Missense_Mutation	SNP	C	C	T	rs112445441		TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr12:25398281C>T	uc001rgp.1	-	2	219	c.38G>A	c.(37-39)GGC>GAC	p.G13D	KRAS_uc001rgq.1_Missense_Mutation_p.G13D|KRAS_uc001rgr.2_RNA	NM_033360	NP_203524	P01116	RASK_HUMAN	c-K-ras2 protein isoform a precursor	13	GTP.		G -> R (in pylocytic astrocytoma; somatic mutation; increase activation of the Ras pathway).|G -> D (in a breast carcinoma cell line and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.G13D(2647)|p.G13C(182)|p.G13S(58)|p.G13R(41)|p.G13V(27)|p.G13A(24)|p.G13G(11)|p.G13E(4)|p.G12_G13insG(4)|p.G13N(3)|p.G13I(1)|p.G13_V14>DI(1)		large_intestine(12391)|pancreas(3285)|lung(2847)|biliary_tract(521)|ovary(443)|endometrium(339)|haematopoietic_and_lymphoid_tissue(318)|stomach(203)|thyroid(149)|prostate(85)|soft_tissue(77)|small_intestine(62)|upper_aerodigestive_tract(59)|cervix(49)|urinary_tract(48)|skin(38)|liver(31)|breast(28)|testis(17)|oesophagus(15)|central_nervous_system(9)|peritoneum(6)|salivary_gland(6)|kidney(5)|gastrointestinal_tract_(site_indeterminate)(5)|thymus(5)|eye(4)|autonomic_ganglia(2)|bone(2)|genital_tract(1)|penis(1)|adrenal_gland(1)	21052	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			CTTGCCTACGCCACCAGCTCC	0.338	G13D(NCIH647_LUNG)|G13D(MDAMB231_BREAST)|G13D(NCIH747_LARGE_INTESTINE)|G13D(T84_LARGE_INTESTINE)|G13D(LOVO_LARGE_INTESTINE)|G13D(DLD1_LARGE_INTESTINE)|G13D(DV90_LUNG)|G13D(HCT15_LARGE_INTESTINE)|G13D(HCT116_LARGE_INTESTINE)|G13D(TOLEDO_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G13D(NOMO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	119	Mis		pancreatic|colorectal|lung|thyroid|AML|others				Cardiofaciocutaneous_syndrome|Noonan_syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)		
TWF1	5756	broad.mit.edu	37	12	44191543	44191543	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr12:44191543A>T	uc001rob.2	-	7	728	c.700T>A	c.(700-702)TTG>ATG	p.L234M	TWF1_uc001rnz.2_Missense_Mutation_p.L95M|TWF1_uc001roa.2_Missense_Mutation_p.L227M|TWF1_uc001roc.2_Missense_Mutation_p.L95M	NM_002822	NP_002813	Q12792	TWF1_HUMAN	twinfilin 1	193	ADF-H 2.					actin cytoskeleton|cytoplasm	actin binding|protein tyrosine kinase activity			stomach(1)	1	all_cancers(12;0.00125)	Lung NSC(34;0.0804)|all_lung(34;0.181)		GBM - Glioblastoma multiforme(48;0.0474)		CTATTATTCAATTTTTCCAAA	0.383												
NELL2	4753	broad.mit.edu	37	12	44915909	44915909	+	Silent	SNP	T	T	C			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr12:44915909T>C	uc001rog.2	-	18	2644	c.2049A>G	c.(2047-2049)ACA>ACG	p.T683T	NELL2_uc001rof.3_Silent_p.T682T|NELL2_uc001roh.2_Silent_p.T683T|NELL2_uc009zkd.2_Silent_p.T635T|NELL2_uc010skz.1_Silent_p.T733T|NELL2_uc010sla.1_Silent_p.T706T	NM_001145108	NP_001138580	Q99435	NELL2_HUMAN	NEL-like protein 2 isoform b precursor	683	VWFC 3.				cell adhesion	extracellular region	calcium ion binding|protein binding|structural molecule activity			skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	4	Lung SC(27;0.192)	Lung NSC(34;0.144)		GBM - Glioblastoma multiforme(48;0.092)		AAAGATCAACTGTGGGATTCT	0.433												
GPD1	2819	broad.mit.edu	37	12	50498517	50498517	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr12:50498517A>G	uc001rvz.2	+	2	235	c.202A>G	c.(202-204)AAG>GAG	p.K68E	GPD1_uc010smp.1_Missense_Mutation_p.K68E|GPD1_uc001rwa.2_Missense_Mutation_p.K68E	NM_005276	NP_005267	P21695	GPDA_HUMAN	glycerol-3-phosphate dehydrogenase 1 (soluble)	68					glycerol-3-phosphate catabolic process|triglyceride biosynthetic process	cytosol|glycerol-3-phosphate dehydrogenase complex	glycerol-3-phosphate dehydrogenase|protein homodimerization activity				0					NADH(DB00157)	GCCAGGGCACAAGTTGCCCCC	0.542												
SCN8A	6334	broad.mit.edu	37	12	52094954	52094954	+	Silent	SNP	C	C	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr12:52094954C>T	uc001ryw.2	+	8	1133	c.955C>T	c.(955-957)CTG>TTG	p.L319L	SCN8A_uc010snl.1_Silent_p.L184L|SCN8A_uc001ryx.1_Silent_p.L184L|SCN8A_uc001ryz.1_Silent_p.L184L|SCN8A_uc001ryy.2_Silent_p.L184L	NM_014191	NP_055006	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha	319	I.				axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier	ATP binding|voltage-gated sodium channel activity			ovary(7)	7				BRCA - Breast invasive adenocarcinoma(357;0.181)	Lamotrigine(DB00555)	TCCTGGCATGCTGGAACCTTT	0.393												
GDF11	10220	broad.mit.edu	37	12	56143376	56143376	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr12:56143376C>T	uc001shq.2	+	3	971	c.934C>T	c.(934-936)CGC>TGC	p.R312C	GDF11_uc010spv.1_Missense_Mutation_p.R312C	NM_005811	NP_005802	O95390	GDF11_HUMAN	growth differentiation factor 11 precursor	312					growth|mesoderm development|skeletal system development	extracellular space	cytokine activity|growth factor activity	p.R312H(1)		kidney(1)	1						AAGCGAGTCCCGCTGCTGCCG	0.582												
ERBB3	2065	broad.mit.edu	37	12	56481660	56481660	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr12:56481660C>T	uc001sjh.2	+	6	888	c.695C>T	c.(694-696)GCC>GTC	p.A232V	ERBB3_uc009zoj.2_RNA|ERBB3_uc010sqb.1_Intron|ERBB3_uc010sqc.1_Missense_Mutation_p.A173V|ERBB3_uc001sji.2_5'Flank	NM_001982	NP_001973	P21860	ERBB3_HUMAN	erbB-3 isoform 1 precursor	232	Extracellular (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)			GATGAGTGTGCCGGGGGCTGC	0.547												
SMARCC2	6601	broad.mit.edu	37	12	56563427	56563427	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr12:56563427C>A	uc001skb.2	-	24	2614	c.2508G>T	c.(2506-2508)AAG>AAT	p.K836N	SMARCC2_uc001skd.2_Missense_Mutation_p.K867N|SMARCC2_uc001ska.2_Missense_Mutation_p.K867N|SMARCC2_uc001skc.2_Missense_Mutation_p.K866N|SMARCC2_uc010sqf.1_Missense_Mutation_p.K756N	NM_003075	NP_003066	Q8TAQ2	SMRC2_HUMAN	SWI/SNF-related matrix-associated	836	Glu-rich.				chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			lung(2)|central_nervous_system(2)|ovary(1)|skin(1)	6			OV - Ovarian serous cystadenocarcinoma(18;0.123)			ccaccacttccttcagcactt	0.224												
SLC39A5	283375	broad.mit.edu	37	12	56629344	56629344	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr12:56629344G>A	uc010sqj.1	+	8	1062	c.805G>A	c.(805-807)GCA>ACA	p.A269T	SLC39A5_uc010sqi.1_Missense_Mutation_p.A160T|SLC39A5_uc010sqk.1_Missense_Mutation_p.A269T	NM_173596	NP_775867	Q6ZMH5	S39A5_HUMAN	solute carrier family 39 (metal ion	269	Extracellular (Potential).				zinc ion transport	basolateral plasma membrane|integral to membrane	metal ion transmembrane transporter activity			ovary(1)|skin(1)	2						TCTCTGTCAGGCACAAGAAGG	0.587												
STAT2	6773	broad.mit.edu	37	12	56749230	56749230	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr12:56749230C>T	uc001slc.2	-	5	546	c.468G>A	c.(466-468)ATG>ATA	p.M156I	STAT2_uc001sld.2_Missense_Mutation_p.M152I|STAT2_uc010sqn.1_Missense_Mutation_p.M152I	NM_005419	NP_005410	P52630	STAT2_HUMAN	signal transducer and activator of transcription	156					interspecies interaction between organisms|JAK-STAT cascade|regulation of transcription from RNA polymerase II promoter|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	cytosol|nucleoplasm|plasma membrane	calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			ovary(1)|lung(1)|kidney(1)	3						TACTAACCTCCATCATAGCCC	0.522												
INHBE	83729	broad.mit.edu	37	12	57849901	57849901	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr12:57849901T>C	uc001snw.2	+	2	547	c.323T>C	c.(322-324)CTG>CCG	p.L108P		NM_031479	NP_113667	P58166	INHBE_HUMAN	activin beta E precursor	108					growth	extracellular region	growth factor activity|hormone activity			breast(2)|central_nervous_system(1)	3						TACAGCTCCCTGCTCACTTTT	0.572											OREG0021944	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
GLI1	2735	broad.mit.edu	37	12	57864396	57864396	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr12:57864396G>A	uc001snx.2	+	12	1951	c.1873G>A	c.(1873-1875)GAG>AAG	p.E625K	GLI1_uc009zpq.2_Missense_Mutation_p.E497K	NM_005269	NP_005260	P08151	GLI1_HUMAN	GLI family zinc finger 1 isoform 1	625					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			skin(4)|ovary(4)|breast(3)|central_nervous_system(1)|urinary_tract(1)|kidney(1)|pancreas(1)	15			GBM - Glioblastoma multiforme(3;3.99e-32)			AAGCCGAGCCGAGTATCCAGG	0.602												
MBD6	114785	broad.mit.edu	37	12	57920381	57920381	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr12:57920381C>A	uc001soj.1	+	7	1677	c.1453C>A	c.(1453-1455)CCA>ACA	p.P485T	MBD6_uc001sok.1_Missense_Mutation_p.P352T|MBD6_uc001sol.1_RNA	NM_052897	NP_443129	Q96DN6	MBD6_HUMAN	methyl-CpG binding domain protein 6	485	Pro-rich.					chromosome|nucleus	chromatin binding|DNA binding			central_nervous_system(3)|ovary(1)	4						CTCCAAAGCCCCAGTAGTCCC	0.617												
FAM119B	25895	broad.mit.edu	37	12	58166907	58166907	+	Silent	SNP	G	G	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr12:58166907G>A	uc001sqg.2	+	2	410	c.285G>A	c.(283-285)CTG>CTA	p.L95L	METTL1_uc010ssd.1_5'Flank|METTL1_uc009zqc.2_5'Flank|FAM119B_uc001sqf.2_Silent_p.L95L|FAM119B_uc009zqd.2_Intron	NM_015433	NP_056248	Q96AZ1	MT21B_HUMAN	hypothetical protein LOC25895 isoform a	95	Helical; (Potential).					integral to membrane|intracellular	methyltransferase activity				0	all_cancers(7;9.07e-82)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)					TGGCAGCGCTGCAGGGTGCGT	0.572												
SRGAP1	57522	broad.mit.edu	37	12	64491077	64491077	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr12:64491077G>A	uc010ssp.1	+	15	1791	c.1735G>A	c.(1735-1737)GTT>ATT	p.V579I	SRGAP1_uc001srv.2_Missense_Mutation_p.V516I	NM_020762	NP_065813	Q7Z6B7	SRGP1_HUMAN	SLIT-ROBO Rho GTPase activating protein 1	579	Rho-GAP.				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)		AGTTGCTGGCGTTCTGAAGCT	0.363												
TMBIM4	51643	broad.mit.edu	37	12	66547166	66547166	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr12:66547166T>C	uc001stc.2	-	2	236	c.160A>G	c.(160-162)ACA>GCA	p.T54A	LLPH_uc010ssx.1_RNA|TMBIM4_uc001std.2_Missense_Mutation_p.T23A|TMBIM4_uc009zqr.2_Missense_Mutation_p.T101A|TMBIM4_uc001ste.2_RNA|TMBIM4_uc001stf.2_Missense_Mutation_p.T54A|TMBIM4_uc009zqs.2_Missense_Mutation_p.T54A	NM_016056	NP_057140	Q9HC24	TMBI4_HUMAN	transmembrane BAX inhibitor motif containing 4	54	Helical; (Potential).					integral to membrane	protein binding			ovary(1)|central_nervous_system(1)	2				GBM - Glioblastoma multiforme(28;0.0745)		AAAAAAACTGTTGAAGTCACT	0.313												
PTPRR	5801	broad.mit.edu	37	12	71139707	71139707	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr12:71139707T>C	uc001swi.1	-	6	1314	c.898A>G	c.(898-900)AAT>GAT	p.N300D	PTPRR_uc001swh.1_Missense_Mutation_p.N55D|PTPRR_uc009zrs.2_Missense_Mutation_p.N149D|PTPRR_uc010stq.1_Missense_Mutation_p.N188D|PTPRR_uc010str.1_Missense_Mutation_p.N149D	NM_002849	NP_002840	Q15256	PTPRR_HUMAN	protein tyrosine phosphatase, receptor type, R	300	Cytoplasmic (Potential).				in utero embryonic development	cell surface|Golgi apparatus|integral to membrane|nucleus|perinuclear region of cytoplasm|plasma membrane	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			skin(2)|ovary(1)	3			GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132)	COAD - Colon adenocarcinoma(1;0.136)		ACGACAACATTCAGTACCTTT	0.542												
LGR5	8549	broad.mit.edu	37	12	71977612	71977612	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr12:71977612G>A	uc001swl.2	+	18	1870	c.1822G>A	c.(1822-1824)GTC>ATC	p.V608I	LGR5_uc001swm.2_Missense_Mutation_p.V584I|LGR5_uc001swn.1_RNA	NM_003667	NP_003658	O75473	LGR5_HUMAN	leucine-rich repeat-containing G protein-coupled	608	Helical; Name=2; (Potential).					integral to plasma membrane	protein-hormone receptor activity			lung(4)|skin(3)|ovary(1)|pancreas(1)	9						GCTCACGGGAGTCTCCAGTGC	0.512												
TRHDE	29953	broad.mit.edu	37	12	72667257	72667257	+	Silent	SNP	G	G	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr12:72667257G>A	uc001sxa.2	+	1	729	c.699G>A	c.(697-699)CTG>CTA	p.L233L	LOC283392_uc010stv.1_5'UTR	NM_013381	NP_037513	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	233	Extracellular (Potential).				cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			ovary(2)|skin(1)	3						ATTACAATCTGAAGATTATCT	0.557												
MYF5	4617	broad.mit.edu	37	12	81110900	81110900	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr12:81110900T>A	uc001szg.2	+	1	193	c.58T>A	c.(58-60)TGC>AGC	p.C20S		NM_005593	NP_005584	P13349	MYF5_HUMAN	myogenic factor 5	20					muscle cell fate commitment|positive regulation of muscle cell differentiation|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity			ovary(1)	1						CGACGGCTCCTGCATACCGTC	0.617												
CEP290	80184	broad.mit.edu	37	12	88472895	88472895	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr12:88472895C>T	uc001tar.2	-	39	5682	c.5338G>A	c.(5338-5340)GTT>ATT	p.V1780I	CEP290_uc001taq.2_Missense_Mutation_p.V840I	NM_025114	NP_079390	O15078	CE290_HUMAN	centrosomal protein 290kDa	1780	Potential.				cilium assembly|eye photoreceptor cell development|G2/M transition of mitotic cell cycle|hindbrain development|otic vesicle formation|positive regulation of transcription, DNA-dependent|pronephros development|protein transport	cell surface|centrosome|cytosol|nucleus|photoreceptor connecting cilium	protein binding			ovary(5)|breast(1)|pancreas(1)	7						TGTCGATCAACGATTTGTTGA	0.373												
NR2C1	7181	broad.mit.edu	37	12	95442864	95442864	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr12:95442864C>T	uc001tdm.3	-	9	1367	c.1111G>A	c.(1111-1113)GAT>AAT	p.D371N	NR2C1_uc010suu.1_Missense_Mutation_p.D371N|NR2C1_uc001tdo.3_Missense_Mutation_p.D371N|NR2C1_uc001tdn.3_Missense_Mutation_p.D371N	NM_003297	NP_003288	P13056	NR2C1_HUMAN	nuclear receptor subfamily 2, group C, member 1	371					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	PML body	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			ovary(1)	1						ACATGTGAATCGCTGAGAAGT	0.393												
CCDC38	120935	broad.mit.edu	37	12	96292234	96292234	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr12:96292234C>A	uc001tek.1	-	7	777	c.543G>T	c.(541-543)CAG>CAT	p.Q181H		NM_182496	NP_872302	Q502W7	CCD38_HUMAN	coiled-coil domain containing 38	181	Potential.									skin(1)	1						TTATTGTTTCCTGTGCTGCCC	0.403												
APAF1	317	broad.mit.edu	37	12	99076985	99076985	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr12:99076985G>A	uc001tfz.2	+	15	2688	c.2111G>A	c.(2110-2112)TGC>TAC	p.C704Y	APAF1_uc001tfy.2_Missense_Mutation_p.C693Y|APAF1_uc001tga.2_Missense_Mutation_p.C693Y|APAF1_uc001tgb.2_Missense_Mutation_p.C704Y|APAF1_uc001tgc.2_Intron|APAF1_uc009zto.2_Missense_Mutation_p.C113Y	NM_181861	NP_863651	O14727	APAF_HUMAN	apoptotic peptidase activating factor 1 isoform	704	WD 3.				activation of caspase activity by cytochrome c|defense response|induction of apoptosis by intracellular signals|nervous system development	cytosol|Golgi apparatus|nucleus	ATP binding|caspase activator activity|protein binding			ovary(2)|lung(1)	3					Adenosine triphosphate(DB00171)	CAAGTCAATTGCTGCCATTTC	0.378												
NR1H4	9971	broad.mit.edu	37	12	100957089	100957089	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr12:100957089T>C	uc001tht.1	+	9	1311	c.1283T>C	c.(1282-1284)GTG>GCG	p.V428A	NR1H4_uc001thp.1_Missense_Mutation_p.V414A|NR1H4_uc001thq.1_Missense_Mutation_p.V418A|NR1H4_uc010svj.1_RNA|NR1H4_uc001thr.1_Missense_Mutation_p.V418A|NR1H4_uc010svk.1_Missense_Mutation_p.V367A|NR1H4_uc001ths.1_Missense_Mutation_p.V424A	NM_005123	NP_005114	Q96RI1	NR1H4_HUMAN	nuclear receptor subfamily 1, group H, member 4	428	Ligand-binding.				bile acid metabolic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			ovary(1)|lung(1)|skin(1)	3						CTTCTTGATGTGCTACAAAAG	0.388												
GAS2L3	283431	broad.mit.edu	37	12	101005888	101005888	+	Silent	SNP	T	T	C			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr12:101005888T>C	uc001thu.2	+	6	640	c.414T>C	c.(412-414)GAT>GAC	p.D138D	GAS2L3_uc009zty.2_Silent_p.D138D|GAS2L3_uc001thv.2_Silent_p.D34D	NM_174942	NP_777602	Q86XJ1	GA2L3_HUMAN	growth arrest-specific 2 like 3	138	CH.				cell cycle arrest					skin(1)	1						TTGGGGTTGATGAAACTTACC	0.393												
IGF1	3479	broad.mit.edu	37	12	102811694	102811694	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr12:102811694C>A	uc001tjp.3	-	4	709	c.490G>T	c.(490-492)GGG>TGG	p.G164W	IGF1_uc001tjn.2_Intron|IGF1_uc001tjm.2_Intron|IGF1_uc001tjo.2_Intron	NM_001111285	NP_001104755	P05019	IGF1_HUMAN	insulin-like growth factor 1 isoform 3	164					anti-apoptosis|bone mineralization involved in bone maturation|cellular component movement|DNA replication|glycolate metabolic process|muscle hypertrophy|myoblast differentiation|myoblast proliferation|myotube cell development|negative regulation of smooth muscle cell apoptosis|phosphatidylinositol-mediated signaling|platelet activation|platelet degranulation|positive regulation of activated T cell proliferation|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|positive regulation of fibroblast proliferation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis|positive regulation of osteoblast differentiation|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of Ras protein signal transduction|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tyrosine phosphorylation of Stat5 protein|Ras protein signal transduction|regulation of multicellular organism growth|satellite cell maintenance involved in skeletal muscle regeneration	platelet alpha granule lumen	growth factor activity|hormone activity|insulin receptor binding|insulin-like growth factor receptor binding|integrin binding			central_nervous_system(1)|pancreas(1)	2						GCTTCTGTCCCCTCCTTCTGT	0.468												
RIC8B	55188	broad.mit.edu	37	12	107254141	107254141	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr12:107254141T>G	uc001tlx.2	+	8	1527	c.1402T>G	c.(1402-1404)TCA>GCA	p.S468A	RIC8B_uc001tlw.2_Missense_Mutation_p.S468A|RIC8B_uc001tly.2_Missense_Mutation_p.S428A|RIC8B_uc001tlz.2_RNA|RIC8B_uc009zur.2_RNA	NM_018157	NP_060627	Q9NVN3	RIC8B_HUMAN	resistance to inhibitors of cholinesterase 8	468					regulation of G-protein coupled receptor protein signaling pathway	cell cortex|cytosol|plasma membrane	G-protein alpha-subunit binding|guanyl-nucleotide exchange factor activity			ovary(1)	1						TAATTGGTACTCAGAGGATGA	0.458												
ISCU	23479	broad.mit.edu	37	12	108958107	108958107	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr12:108958107C>T	uc010sxc.1	+	2	272	c.167C>T	c.(166-168)TCT>TTT	p.S56F	SART3_uc001tmz.1_5'Flank|SART3_uc009zux.1_5'Flank|SART3_uc010swx.1_5'Flank|SART3_uc010swz.1_5'Flank|SART3_uc001tna.1_5'Flank|SART3_uc001tnb.2_5'Flank|ISCU_uc010sxa.1_Missense_Mutation_p.S56F|ISCU_uc010sxb.1_Missense_Mutation_p.S56F|ISCU_uc001tnc.3_Missense_Mutation_p.S31F|ISCU_uc009zuy.2_Missense_Mutation_p.S31F|ISCU_uc010sxd.1_Missense_Mutation_p.S56F	NM_213595	NP_998760	Q9H1K1	ISCU_HUMAN	iron-sulfur cluster assembly enzyme isoform	56					iron-sulfur cluster assembly|nitrogen fixation	cytosol|mitochondrion|nucleus	iron ion binding|iron-sulfur cluster binding|protein complex scaffold				0						GACAAGACATCTAAAAATGTT	0.383												
TRPV4	59341	broad.mit.edu	37	12	110226433	110226433	+	Silent	SNP	G	G	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr12:110226433G>A	uc001tpj.1	-	12	2075	c.1980C>T	c.(1978-1980)TGC>TGT	p.C660C	TRPV4_uc001tpg.1_Silent_p.C626C|TRPV4_uc001tph.1_Silent_p.C613C|TRPV4_uc001tpi.1_Silent_p.C553C|TRPV4_uc001tpk.1_Silent_p.C660C|TRPV4_uc001tpl.1_Silent_p.C600C	NM_021625	NP_067638	Q9HBA0	TRPV4_HUMAN	transient receptor potential cation channel,	660					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						CGCTGTCACGGCACGAGGGGT	0.597												
VPS29	51699	broad.mit.edu	37	12	110933822	110933822	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr12:110933822C>T	uc001tqy.2	-	2	250	c.190G>A	c.(190-192)GAT>AAT	p.D64N	VPS29_uc001tqw.2_RNA|VPS29_uc001tqx.2_Missense_Mutation_p.D68N|VPS29_uc001tqz.2_RNA	NM_016226	NP_057310	Q9UBQ0	VPS29_HUMAN	vacuolar protein sorting 29 isoform 1	64					protein transport	endosome membrane	metal ion binding|phosphoserine phosphatase activity				0						ATCACCTCATCGAAGTCTCCT	0.398												
PLBD2	196463	broad.mit.edu	37	12	113825620	113825620	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr12:113825620C>A	uc001tve.2	+	11	1546	c.1511C>A	c.(1510-1512)GCT>GAT	p.A504D	PLBD2_uc001tvf.2_Missense_Mutation_p.A472D	NM_173542	NP_775813	Q8NHP8	PLBL2_HUMAN	phospholipase B domain containing 2 isoform 1	504					lipid catabolic process	lysosomal lumen	hydrolase activity				0						GGGGAGAATGCTATCTCCGCC	0.597												
CCDC60	160777	broad.mit.edu	37	12	119773072	119773072	+	Splice_Site	SNP	G	G	C			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr12:119773072G>C	uc001txe.2	+	1	555	c.90_splice	c.e1+1	p.Q30_splice		NM_178499	NP_848594	Q8IWA6	CCD60_HUMAN	coiled-coil domain containing 60											ovary(2)|upper_aerodigestive_tract(1)	3	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.207)		CCTAAGGCAGGTAAGTCTCCC	0.373												
UNC119B	84747	broad.mit.edu	37	12	121154782	121154782	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr12:121154782A>G	uc001tyz.2	+	4	1027	c.580A>G	c.(580-582)ATC>GTC	p.I194V		NM_001080533	NP_001074002	A6NIH7	U119B_HUMAN	unc-119 homolog B	194										haematopoietic_and_lymphoid_tissue(1)	1	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					TGGCTTCTGCATCCCCAGCAG	0.458												
B3GNT4	79369	broad.mit.edu	37	12	122691078	122691078	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr12:122691078C>T	uc001ubx.2	+	3	498	c.280C>T	c.(280-282)CGT>TGT	p.R94C	B3GNT4_uc001uby.2_Missense_Mutation_p.R69C	NM_030765	NP_110392	Q9C0J1	B3GN4_HUMAN	UDP-GlcNAc:betaGal	94	Lumenal (Potential).				protein glycosylation	Golgi membrane|integral to membrane	galactosyltransferase activity			ovary(1)	1	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000297)|Epithelial(86;0.000497)|BRCA - Breast invasive adenocarcinoma(302;0.222)		TAGCCGTCACCGTCTCTTCTT	0.577												
GPR109A	338442	broad.mit.edu	37	12	123187233	123187233	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr12:123187233G>A	uc001ucx.1	-	1	672	c.598C>T	c.(598-600)CCC>TCC	p.P200S	GPR81_uc001ucw.1_Intron	NM_177551	NP_808219	Q8TDS4	HCAR2_HUMAN	G protein-coupled receptor 109A	200	Helical; Name=5; (Potential).				negative regulation of lipid catabolic process|neutrophil apoptosis|positive regulation of adiponectin secretion|positive regulation of neutrophil apoptosis	integral to membrane|plasma membrane	nicotinic acid receptor activity|purinergic nucleotide receptor activity, G-protein coupled				0	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.12e-05)|Epithelial(86;3.19e-05)|BRCA - Breast invasive adenocarcinoma(302;0.196)	Mepenzolate(DB04843)|Niacin(DB00627)	ATGCCCAGGGGCAGGAAGAAC	0.542												
SBNO1	55206	broad.mit.edu	37	12	123810084	123810084	+	Silent	SNP	G	G	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr12:123810084G>A	uc010tap.1	-	14	1938	c.1938C>T	c.(1936-1938)GGC>GGT	p.G646G	SBNO1_uc010tao.1_Silent_p.G645G|SBNO1_uc010taq.1_Intron|SBNO1_uc001uet.2_Silent_p.G646G|SBNO1_uc001ueu.2_Silent_p.G645G|SBNO1_uc001uev.2_Silent_p.G644G|SBNO1_uc009zxy.1_Silent_p.G611G	NM_018183	NP_060653	A3KN83	SBNO1_HUMAN	sno, strawberry notch homolog 1	646							ATP binding|DNA binding|hydrolase activity			breast(5)|skin(2)|ovary(1)|kidney(1)	9	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)		ATTCTCCCCCGCCCTCTTCCA	0.338												
DDX55	57696	broad.mit.edu	37	12	124092063	124092063	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr12:124092063G>A	uc001ufi.2	+	4	355	c.331G>A	c.(331-333)GAG>AAG	p.E111K	DDX55_uc001ufh.2_5'UTR|DDX55_uc001ufj.1_Intron|DDX55_uc001ufk.2_5'UTR	NM_020936	NP_065987	Q8NHQ9	DDX55_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 55	111	Helicase ATP-binding.						ATP binding|ATP-dependent helicase activity|RNA binding			ovary(1)	1	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000142)|Epithelial(86;0.000637)|all cancers(50;0.00772)		GCACTTCCCCGAGTTCAGGTG	0.488												
P2RX2	22953	broad.mit.edu	37	12	133197638	133197638	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr12:133197638G>A	uc001ukj.1	+	8	826	c.826G>A	c.(826-828)GCA>ACA	p.A276T	P2RX2_uc001uki.1_Missense_Mutation_p.A276T|P2RX2_uc001ukk.1_Missense_Mutation_p.A276T|P2RX2_uc001ukl.1_Missense_Mutation_p.A252T|P2RX2_uc001ukm.1_Missense_Mutation_p.A204T|P2RX2_uc001ukn.1_Missense_Mutation_p.A184T|P2RX2_uc009zyt.1_Missense_Mutation_p.A276T|P2RX2_uc001uko.1_Missense_Mutation_p.A242T	NM_170682	NP_733782	Q9UBL9	P2RX2_HUMAN	purinergic receptor P2X2 isoform A	276	Extracellular (Potential).				positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling|protein homooligomerization	integral to membrane	ATP binding|extracellular ATP-gated cation channel activity|identical protein binding|purinergic nucleotide receptor activity				0	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0767)		OV - Ovarian serous cystadenocarcinoma(86;2.32e-08)|Epithelial(86;8.62e-08)|all cancers(50;4.5e-06)		GGACCTGCCTGCATCGGAGTG	0.607												
MPHOSPH8	54737	broad.mit.edu	37	13	20242596	20242596	+	Missense_Mutation	SNP	G	G	A	rs145688067		TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr13:20242596G>A	uc001umh.2	+	11	2263	c.2254G>A	c.(2254-2256)GCA>ACA	p.A752T	MPHOSPH8_uc001umg.2_Missense_Mutation_p.A752T	NM_017520	NP_059990	Q99549	MPP8_HUMAN	M-phase phosphoprotein 8	752					cell cycle	cytoplasm|nucleus					0		all_cancers(29;2.83e-16)|all_lung(29;1.16e-17)|all_epithelial(30;8.13e-16)|Lung NSC(5;6.91e-15)|Lung SC(185;0.0367)		all cancers(112;8.43e-05)|Epithelial(112;0.000426)|OV - Ovarian serous cystadenocarcinoma(117;0.00596)|Lung(94;0.015)|LUSC - Lung squamous cell carcinoma(192;0.0795)		TTTTCCAATCGCATGTCATCG	0.418												
GJB6	10804	broad.mit.edu	37	13	20797345	20797345	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr13:20797345G>A	uc001umz.3	-	3	828	c.275C>T	c.(274-276)GCC>GTC	p.A92V	GJB6_uc001unc.3_Missense_Mutation_p.A92V|GJB6_uc001una.3_Missense_Mutation_p.A92V|GJB6_uc001und.3_Missense_Mutation_p.A92V|GJB6_uc001unb.3_Missense_Mutation_p.A92V	NM_006783	NP_006774	O95452	CXB6_HUMAN	gap junction protein, beta 6	92	Helical; (Potential).				cell communication|sensory perception of sound	connexon complex|integral to membrane|intracellular membrane-bounded organelle				ovary(1)	1		all_cancers(29;2.04e-22)|all_epithelial(30;1.19e-19)|all_lung(29;2.27e-18)|Lung SC(185;0.0257)|Ovarian(182;0.0822)		all cancers(112;2.17e-05)|Epithelial(112;0.00075)|OV - Ovarian serous cystadenocarcinoma(117;0.00978)|Lung(94;0.0238)|GBM - Glioblastoma multiforme(144;0.0323)|LUSC - Lung squamous cell carcinoma(192;0.0744)		CACATGCATGGCCACCAGCAG	0.527												
EFHA1	221154	broad.mit.edu	37	13	22070218	22070218	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr13:22070218T>C	uc001uof.2	-	10	1037	c.1015A>G	c.(1015-1017)AGT>GGT	p.S339G	EFHA1_uc010tct.1_Missense_Mutation_p.S129G	NM_152726	NP_689939	Q8IYU8	EFHA1_HUMAN	EF-hand domain family, member A1	339							calcium ion binding				0		all_cancers(29;1.24e-15)|all_epithelial(30;5.4e-14)|all_lung(29;2.04e-13)|Lung SC(185;0.0367)		all cancers(112;0.000171)|Epithelial(112;0.000398)|OV - Ovarian serous cystadenocarcinoma(117;0.00641)|Lung(94;0.189)		TGAGCTAAACTGAACATCTGC	0.313												
SGCG	6445	broad.mit.edu	37	13	23824814	23824814	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr13:23824814G>A	uc001uom.2	+	4	498	c.343G>A	c.(343-345)GCG>ACG	p.A115T	SGCG_uc009zzv.2_Missense_Mutation_p.A115T|SGCG_uc009zzw.2_Missense_Mutation_p.A115T	NM_000231	NP_000222	Q13326	SGCG_HUMAN	gamma sarcoglycan	115	Extracellular (Potential).				cytoskeleton organization|muscle organ development	cytoplasm|cytoskeleton|integral to membrane|sarcoglycan complex|sarcolemma					0		all_cancers(29;4.34e-23)|all_epithelial(30;4.4e-19)|all_lung(29;2.45e-18)|Lung SC(185;0.0228)|Breast(139;0.188)		all cancers(112;0.00255)|Epithelial(112;0.0129)|OV - Ovarian serous cystadenocarcinoma(117;0.0365)|Lung(94;0.205)		GACTGTAAATGCGCGCAACTC	0.403												
ATP12A	479	broad.mit.edu	37	13	25262595	25262595	+	Missense_Mutation	SNP	G	G	A	rs149324896		TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr13:25262595G>A	uc001upp.2	+	4	554	c.367G>A	c.(367-369)GCC>ACC	p.A123T	ATP12A_uc010aaa.2_Missense_Mutation_p.A123T	NM_001676	NP_001667	P54707	AT12A_HUMAN	hydrogen/potassium-exchanging ATPase 12A	123	Helical; (Potential).				ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding			ovary(2)|central_nervous_system(2)|large_intestine(1)|breast(1)	6		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	Esomeprazole(DB00736)|Pantoprazole(DB00213)	GTGGGTGGGCGCCTTTCTCTG	0.572												
GSX1	219409	broad.mit.edu	37	13	28367816	28367816	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr13:28367816C>T	uc001urr.1	+	2	574	c.526C>T	c.(526-528)CGT>TGT	p.R176C		NM_145657	NP_663632	Q9H4S2	GSX1_HUMAN	GS homeobox 1	176	Homeobox.				positive regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1		Lung SC(185;0.0161)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	GBM - Glioblastoma multiforme(144;0.0402)|all cancers(112;0.0404)|OV - Ovarian serous cystadenocarcinoma(117;0.197)		GTCCCGCCTACGTCGCATCGA	0.582												
PAN3	255967	broad.mit.edu	37	13	28834653	28834653	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr13:28834653G>A	uc001urz.2	+	7	888	c.880G>A	c.(880-882)GCA>ACA	p.A294T	PAN3_uc010tdo.1_Missense_Mutation_p.A440T|PAN3_uc001ury.2_Missense_Mutation_p.A128T|PAN3_uc001urx.2_Missense_Mutation_p.A240T	NM_175854	NP_787050	Q58A45	PAN3_HUMAN	PABP1-dependent poly A-specific ribonuclease	440	Interaction with polyadenylate-binding protein.				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening	centrosome|cytosol	ATP binding|protein kinase activity			ovary(1)	1	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)	Colorectal(13;0.000334)	all cancers(112;0.0102)|Epithelial(112;0.0803)|GBM - Glioblastoma multiforme(144;0.121)|OV - Ovarian serous cystadenocarcinoma(117;0.13)|Lung(94;0.174)		GAAAGCAAACGCACCTTCCTT	0.418												
RXFP2	122042	broad.mit.edu	37	13	32366011	32366011	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr13:32366011G>A	uc001utt.2	+	15	1285	c.1214G>A	c.(1213-1215)GGC>GAC	p.G405D	RXFP2_uc010aba.2_Missense_Mutation_p.G364D	NM_130806	NP_570718	Q8WXD0	RXFP2_HUMAN	relaxin/insulin-like family peptide receptor 2	405	Extracellular (Potential).					integral to membrane|plasma membrane					0		Lung SC(185;0.0262)		all cancers(112;0.000559)|Epithelial(112;0.0017)|OV - Ovarian serous cystadenocarcinoma(117;0.0145)|BRCA - Breast invasive adenocarcinoma(63;0.0535)		TTGACGGACGGCATTTCTTCA	0.393												
SPG20	23111	broad.mit.edu	37	13	36909438	36909438	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr13:36909438T>C	uc001uvn.2	-	3	800	c.530A>G	c.(529-531)CAA>CGA	p.Q177R	SPG20_uc010ten.1_Missense_Mutation_p.Q177R|SPG20_uc001uvm.2_Missense_Mutation_p.Q177R|SPG20_uc001uvo.2_Missense_Mutation_p.Q177R|SPG20_uc001uvq.2_Missense_Mutation_p.Q177R|SPG20_uc001uvp.2_Missense_Mutation_p.Q177R	NM_001142296	NP_001135768	Q8N0X7	SPG20_HUMAN	spartin	177					cell death	cytoplasm	ubiquitin protein ligase binding				0		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;2.42e-08)|Epithelial(112;1.58e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00128)|BRCA - Breast invasive adenocarcinoma(63;0.0125)|GBM - Glioblastoma multiforme(144;0.026)		TTCAGCAGCTTGAGGAGTATA	0.483												
C13orf23	80209	broad.mit.edu	37	13	39587850	39587850	+	Silent	SNP	T	T	C			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr13:39587850T>C	uc001uwy.2	-	11	2412	c.1539A>G	c.(1537-1539)TCA>TCG	p.S513S	C13orf23_uc001uwz.2_Silent_p.S491S	NM_025138	NP_079414	Q86XN7	CM023_HUMAN	hypothetical protein LOC80209 isoform 1	513	Ser-rich.									ovary(2)|skin(2)|haematopoietic_and_lymphoid_tissue(1)	5		Lung NSC(96;6.01e-07)|Breast(139;0.00394)|Prostate(109;0.00676)|Lung SC(185;0.0548)|Hepatocellular(188;0.114)		all cancers(112;3.7e-08)|Epithelial(112;4.28e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00114)|BRCA - Breast invasive adenocarcinoma(63;0.00366)|GBM - Glioblastoma multiforme(144;0.0146)		TGTTAGGGGCTGAAGCAGAAG	0.532												
NAA16	79612	broad.mit.edu	37	13	41943312	41943312	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr13:41943312C>T	uc001uyf.2	+	15	2164	c.1840C>T	c.(1840-1842)CAT>TAT	p.H614Y	NAA16_uc010tfg.1_RNA	NM_024561	NP_078837	Q6N069	NAA16_HUMAN	NMDA receptor regulated 1-like protein isoform	614					N-terminal protein amino acid acetylation|positive regulation of transcription, DNA-dependent	cytoplasm|transcription factor complex	binding			central_nervous_system(1)	1						agaaagaaagcatgcagaaag	0.214												
TPT1	7178	broad.mit.edu	37	13	45914128	45914128	+	Splice_Site	SNP	C	C	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr13:45914128C>A	uc001uzy.1	-	3	386	c.293_splice	c.e3+1	p.S98_splice	TPT1_uc001uzz.1_Splice_Site_p.S64_splice|SNORA31_uc001vaa.1_5'Flank|LOC100190939_uc010tfr.1_5'Flank|LOC100190939_uc001vac.2_5'Flank	NM_003295	NP_003286	P13693	TCTP_HUMAN	tumor protein, translationally-controlled 1						anti-apoptosis|response to virus	extracellular space|multivesicular body	calcium ion binding|protein binding				0		Lung NSC(96;0.00227)|Prostate(109;0.00578)|Breast(56;0.0192)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000232)		GTATCACTTACGATTTCATGT	0.383												
NEK5	341676	broad.mit.edu	37	13	52639595	52639595	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr13:52639595C>T	uc001vge.2	-	22	2215	c.2075G>A	c.(2074-2076)CGT>CAT	p.R692H		NM_199289	NP_954983	Q6P3R8	NEK5_HUMAN	NIMA-related kinase 5	692							ATP binding|metal ion binding|protein serine/threonine kinase activity			upper_aerodigestive_tract(1)	1		Breast(56;0.00173)|Lung NSC(96;0.0168)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;3.7e-08)		CCCTTCCTGACGACTGACGCT	0.547												
SUGT1	10910	broad.mit.edu	37	13	53239778	53239778	+	Silent	SNP	C	C	T	rs148803576		TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr13:53239778C>T	uc001vhc.2	+	10	750	c.525C>T	c.(523-525)GAC>GAT	p.D175D	SUGT1_uc001vha.2_RNA|SUGT1_uc001vhb.2_Silent_p.D143D|SUGT1_uc010thb.1_Silent_p.D87D|SUGT1_uc001vhd.2_Silent_p.D32D	NM_001130912	NP_001124384	Q9Y2Z0	SUGT1_HUMAN	suppressor of G2 allele of SKP1 isoform a	175	CS.				mitosis	kinetochore|ubiquitin ligase complex	binding				0		Lung NSC(96;0.00212)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.25e-08)		ATAGGTATGACTGGTATCAAA	0.303												
PCDH17	27253	broad.mit.edu	37	13	58208795	58208795	+	Silent	SNP	G	G	A	rs79688799	by1000genomes	TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr13:58208795G>A	uc001vhq.1	+	1	3007	c.2115G>A	c.(2113-2115)TCG>TCA	p.S705S	PCDH17_uc010aec.1_Silent_p.S705S	NM_001040429	NP_001035519	O14917	PCD17_HUMAN	protocadherin 17 precursor	705	Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	7		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		GGGACATGTCGCTGCCGCTCA	0.612												
DIAPH3	81624	broad.mit.edu	37	13	60413550	60413550	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr13:60413550G>A	uc001vht.2	-	23	2989	c.2770C>T	c.(2770-2772)CAG>TAG	p.Q924*	DIAPH3_uc001vhu.2_Nonsense_Mutation_p.Q661*	NM_001042517	NP_001035982	Q9NSV4	DIAP3_HUMAN	diaphanous homolog 3 isoform a	924	FH2.				actin cytoskeleton organization		actin binding|Rho GTPase binding			ovary(2)	2		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;2.77e-05)		CTTCCCATCTGCCTCAAATTC	0.403												
DIAPH3	81624	broad.mit.edu	37	13	60737769	60737769	+	Silent	SNP	A	A	G			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr13:60737769A>G	uc001vht.2	-	1	351	c.132T>C	c.(130-132)CCT>CCC	p.P44P	DIAPH3_uc001vhw.1_Silent_p.P44P|DIAPH3_uc010aed.1_Silent_p.P44P|DIAPH3_uc010aee.1_Silent_p.P44P	NM_001042517	NP_001035982	Q9NSV4	DIAP3_HUMAN	diaphanous homolog 3 isoform a	44					actin cytoskeleton organization		actin binding|Rho GTPase binding			ovary(2)	2		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;2.77e-05)		TGGGCGGCGGAGGGTGTTGGG	0.711												
PCDH9	5101	broad.mit.edu	37	13	67802393	67802393	+	Silent	SNP	G	G	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr13:67802393G>A	uc001vik.2	-	2	872	c.180C>T	c.(178-180)GCC>GCT	p.A60A	PCDH9_uc001vil.2_Silent_p.A60A|PCDH9_uc010thl.1_Silent_p.A60A|PCDH9_uc001vin.3_Silent_p.A60A	NM_203487	NP_982354	Q9HC56	PCDH9_HUMAN	protocadherin 9 isoform 1 precursor	60	Extracellular (Potential).|Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|pancreas(1)|skin(1)	6		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		AGACAAGGCTGGCGCTGGTCC	0.458												
C13orf34	79866	broad.mit.edu	37	13	73327858	73327858	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr13:73327858G>T	uc001viv.1	+	11	1632	c.1513G>T	c.(1513-1515)GGA>TGA	p.G505*	C13orf34_uc010aen.1_Nonsense_Mutation_p.G580*|C13orf34_uc010thr.1_Nonsense_Mutation_p.G435*|C13orf34_uc001viw.1_Nonsense_Mutation_p.G454*	NM_024808	NP_079084	Q6PGQ7	BORA_HUMAN	aurora borealis	505					cell division|mitosis|regulation of mitosis|regulation of mitotic spindle organization|regulation of protein localization		protein kinase binding				0		Breast(118;0.0735)		GBM - Glioblastoma multiforme(99;0.000227)		GCAGAATTGTGGAAGCAATAT	0.318												
LMO7	4008	broad.mit.edu	37	13	76210812	76210812	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr13:76210812G>A	uc001vjt.1	+	1	354	c.19G>A	c.(19-21)GCA>ACA	p.A7T	LMO7_uc010thv.1_Intron	NM_005358	NP_005349	Q8WWI1	LMO7_HUMAN	LIM domain only 7 isoform 1	Error:Variant_position_missing_in_Q8WWI1_after_alignment						cytoplasm|nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding			large_intestine(2)|ovary(1)|prostate(1)|skin(1)	5		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		GCTGGAGGAGGCAGAGGCCAA	0.662												
MYCBP2	23077	broad.mit.edu	37	13	77657276	77657276	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr13:77657276C>T	uc001vkf.2	-	64	10904	c.10813G>A	c.(10813-10815)GGG>AGG	p.G3605R	MYCBP2_uc010aev.2_Missense_Mutation_p.G3009R|MYCBP2_uc001vke.2_Missense_Mutation_p.G225R	NM_015057	NP_055872	O75592	MYCB2_HUMAN	MYC binding protein 2	3605					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)		GCAGCTTCCCCGGCAATCACT	0.453												
SLITRK6	84189	broad.mit.edu	37	13	86370288	86370288	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr13:86370288A>T	uc001vll.1	-	2	815	c.356T>A	c.(355-357)ATC>AAC	p.I119N	SLITRK6_uc010afe.1_5'Flank	NM_032229	NP_115605	Q9H5Y7	SLIK6_HUMAN	slit and trk like 6 precursor	119	Extracellular (Potential).|LRR 2.					integral to membrane				large_intestine(1)|ovary(1)|central_nervous_system(1)	3	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)		ATTGTGATTGATATGAAGTTG	0.358												
GPC5	2262	broad.mit.edu	37	13	93518632	93518632	+	Silent	SNP	G	G	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr13:93518632G>A	uc010tif.1	+	8	2025	c.1659G>A	c.(1657-1659)GCG>GCA	p.A553A		NM_004466	NP_004457	P78333	GPC5_HUMAN	glypican 5 precursor	553						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			ovary(2)|skin(2)|upper_aerodigestive_tract(1)	5	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)				GTGCAGTGGCGACTGAATCTA	0.443												
TPP2	7174	broad.mit.edu	37	13	103257246	103257246	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr13:103257246T>G	uc001vpi.3	+	2	372	c.269T>G	c.(268-270)GTT>GGT	p.V90G		NM_003291	NP_003282	P29144	TPP2_HUMAN	tripeptidyl peptidase II	90					proteolysis	cytoplasm|nucleus	aminopeptidase activity|serine-type endopeptidase activity|tripeptidyl-peptidase activity			upper_aerodigestive_tract(1)|ovary(1)	2	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					GGTGAGATTGTTGGCCTTTCA	0.368												
COL4A1	1282	broad.mit.edu	37	13	110835372	110835372	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr13:110835372C>T	uc001vqw.3	-	28	2185	c.2063G>A	c.(2062-2064)GGC>GAC	p.G688D	COL4A1_uc010agl.2_Intron	NM_001845	NP_001836	P02462	CO4A1_HUMAN	alpha 1 type IV collagen preproprotein	688	Triple-helical region.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			ovary(3)|lung(1)|central_nervous_system(1)|pancreas(1)	6	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			AAATCCAATGCCTGGCTGGCC	0.622												
COL4A2	1284	broad.mit.edu	37	13	111117854	111117854	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr13:111117854G>A	uc001vqx.2	+	25	2168	c.1879G>A	c.(1879-1881)GGC>AGC	p.G627S		NM_001846	NP_001837	P08572	CO4A2_HUMAN	alpha 2 type IV collagen preproprotein	627	Triple-helical region.				angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding			skin(3)|central_nervous_system(2)|ovary(1)	6	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			GGGCCTTCCCGGCCTCAAAGG	0.642												
ARHGEF7	8874	broad.mit.edu	37	13	111926266	111926266	+	Silent	SNP	T	T	C			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr13:111926266T>C	uc001vrs.2	+	11	1492	c.1242T>C	c.(1240-1242)CCT>CCC	p.P414P	ARHGEF7_uc001vrr.2_Silent_p.P393P|ARHGEF7_uc001vrt.2_Silent_p.P364P|ARHGEF7_uc010tjn.1_Intron|ARHGEF7_uc001vru.1_Silent_p.P236P|ARHGEF7_uc001vrv.3_Silent_p.P236P|ARHGEF7_uc001vrw.3_Silent_p.P236P|ARHGEF7_uc001vrx.3_Silent_p.P236P|ARHGEF7_uc010tjo.1_Silent_p.P311P|ARHGEF7_uc010tjp.1_Silent_p.P158P|ARHGEF7_uc010agn.1_Silent_p.P158P	NM_001113511	NP_001106983	Q14155	ARHG7_HUMAN	PAK-interacting exchange factor beta isoform c	414	DH.				apoptosis|epidermal growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	protein binding|Rho guanyl-nucleotide exchange factor activity			ovary(2)|skin(2)|pancreas(1)|lung(1)|kidney(1)	7	all_lung(23;3.96e-05)|Lung NSC(43;0.00156)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.188)			ATAAATACCCTACGCTGCTCA	0.532												
GAS6	2621	broad.mit.edu	37	13	114526521	114526521	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr13:114526521G>A	uc001vud.2	-	13	1633	c.1480C>T	c.(1480-1482)CGG>TGG	p.R494W	GAS6_uc001vug.2_Missense_Mutation_p.R195W|GAS6_uc001vuf.2_Missense_Mutation_p.R221W	NM_000820	NP_000811	Q14393	GAS6_HUMAN	growth arrest-specific 6 isoform 1 precursor	537	Laminin G-like 2.				cell proliferation|leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|positive regulation of ERK1 and ERK2 cascade|positive regulation of fibroblast proliferation|post-translational protein modification|proteolysis|regulation of growth	endoplasmic reticulum lumen|extracellular space|Golgi lumen|platelet alpha granule lumen	calcium ion binding|receptor agonist activity			central_nervous_system(4)	4	Lung NSC(43;0.00976)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0176)|all_epithelial(44;0.0104)|all_lung(25;0.0249)|Lung NSC(25;0.0908)|Breast(118;0.188)				AGAGGGGTCCGCACTGCAATG	0.622												
TEP1	7011	broad.mit.edu	37	14	20853225	20853225	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr14:20853225A>G	uc001vxe.2	-	21	3066	c.3026T>C	c.(3025-3027)GTG>GCG	p.V1009A	TEP1_uc010ahk.2_Missense_Mutation_p.V359A|TEP1_uc010tlf.1_RNA|TEP1_uc010tlg.1_Missense_Mutation_p.V901A|TEP1_uc010tlh.1_5'Flank	NM_007110	NP_009041	Q99973	TEP1_HUMAN	telomerase-associated protein 1	1009					telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			ovary(5)	5	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		GAACTGCATCACCTCCATCTC	0.577												
SALL2	6297	broad.mit.edu	37	14	21993076	21993076	+	Silent	SNP	A	A	G			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr14:21993076A>G	uc001wbe.2	-	2	1068	c.786T>C	c.(784-786)TCT>TCC	p.S262S	SALL2_uc010tly.1_Silent_p.S260S|SALL2_uc010tlz.1_Intron|SALL2_uc001wbf.3_Intron|SALL2_uc010tma.1_Intron|SALL2_uc001wbg.1_Intron	NM_005407	NP_005398	Q9Y467	SALL2_HUMAN	sal-like 2	262	Poly-Ser.						DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)|large_intestine(1)	3	all_cancers(95;0.000662)			GBM - Glioblastoma multiforme(265;0.0151)		CTgaagaggaagaggaggagg	0.512												
RBM23	55147	broad.mit.edu	37	14	23374162	23374162	+	Silent	SNP	T	T	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr14:23374162T>A	uc001whg.2	-	9	985	c.786A>T	c.(784-786)CCA>CCT	p.P262P	RBM23_uc001whh.2_Silent_p.P246P|RBM23_uc001whi.2_Silent_p.P228P|RBM23_uc010tne.1_Silent_p.P92P|RBM23_uc001whj.2_Silent_p.P12P|RBM23_uc001whk.1_Silent_p.P262P	NM_001077351	NP_001070819	Q86U06	RBM23_HUMAN	RNA binding motif protein 23 isoform 1	262					mRNA processing	nucleus	nucleotide binding|RNA binding			skin(1)	1	all_cancers(95;4.69e-05)			GBM - Glioblastoma multiforme(265;0.0128)		AGAGGCGCATTGGTCCACCAT	0.517												
MYH7	4625	broad.mit.edu	37	14	23902741	23902741	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr14:23902741C>A	uc001wjx.2	-	3	307	c.201G>T	c.(199-201)AAG>AAT	p.K67N		NM_000257	NP_000248	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	67	Myosin head-like.				adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			ovary(3)|skin(1)	4	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		TGACACCCACCTTGCCATACT	0.572												
PCK2	5106	broad.mit.edu	37	14	24572963	24572963	+	Silent	SNP	A	A	G			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr14:24572963A>G	uc001wlt.2	+	10	1845	c.1713A>G	c.(1711-1713)ACA>ACG	p.T571T	NRL_uc001wlq.2_Intron|PCK2_uc001wlr.1_Intron|PCK2_uc010tnw.1_Silent_p.T437T|PCK2_uc010tnx.1_Silent_p.T437T|PCK2_uc001wlu.3_Silent_p.T405T	NM_004563	NP_004554	Q16822	PCKGM_HUMAN	mitochondrial phosphoenolpyruvate carboxykinase	571					gluconeogenesis	mitochondrial matrix	GTP binding|metal ion binding|phosphoenolpyruvate carboxykinase (GTP) activity			ovary(1)	1				GBM - Glioblastoma multiforme(265;0.0184)		CCCGAGAGACACCCATTGGGC	0.607												
FOXG1	2290	broad.mit.edu	37	14	29237047	29237047	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr14:29237047G>A	uc001wqe.2	+	1	761	c.562G>A	c.(562-564)GCG>ACG	p.A188T		NM_005249	NP_005240	P55316	FOXG1_HUMAN	forkhead box G1	188	Fork-head.				axon midline choice point recognition|central nervous system neuron development|dorsal/ventral pattern formation|embryo development ending in birth or egg hatching|hindbrain development|inner ear morphogenesis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|nonmotile primary cilium assembly|nose development|positive regulation of cell cycle|positive regulation of neuroblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of mitotic cell cycle|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			ovary(2)|lung(2)	4			LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575)	GBM - Glioblastoma multiforme(265;0.00413)		CAGCTACAACGCGCTCATCAT	0.383												
PPP2R3C	55012	broad.mit.edu	37	14	35564337	35564337	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr14:35564337G>A	uc001wss.2	-	10	1246	c.892C>T	c.(892-894)CTC>TTC	p.L298F	PPP2R3C_uc001wst.2_Missense_Mutation_p.L182F|PPP2R3C_uc010tpr.1_Missense_Mutation_p.L182F|PPP2R3C_uc001wsu.2_Intron	NM_017917	NP_060387	Q969Q6	P2R3C_HUMAN	serine/threonine-protein phosphatase 2A	298	EF-hand 1.					centrosome|nucleus	calcium ion binding			ovary(1)	1	Breast(36;0.0545)|Hepatocellular(127;0.158)|Prostate(35;0.184)		Lung(238;8.62e-06)|LUAD - Lung adenocarcinoma(48;1.42e-05)|Epithelial(34;0.0177)|all cancers(34;0.0491)	GBM - Glioblastoma multiforme(112;0.0803)		TAGCGTGAGAGTTCTTCTTTA	0.373												
SSTR1	6751	broad.mit.edu	37	14	38678777	38678777	+	Silent	SNP	C	C	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr14:38678777C>A	uc001wul.1	+	3	800	c.183C>A	c.(181-183)ATC>ATA	p.I61I	SSTR1_uc010amu.1_Intron	NM_001049	NP_001040	P30872	SSR1_HUMAN	somatostatin receptor 1	61	Helical; Name=1; (Potential).				digestion|G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation|response to nutrient	integral to plasma membrane	somatostatin receptor activity			central_nervous_system(3)|ovary(1)|lung(1)	5	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00444)	Octreotide(DB00104)	CCATCCTGATCTCTTTCATCT	0.637												
CDKL1	8814	broad.mit.edu	37	14	50846843	50846843	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr14:50846843C>A	uc010anu.1	-	8	1078	c.1078G>T	c.(1078-1080)GGT>TGT	p.G360C	CDKL1_uc001wxz.2_Intron	NM_004196	NP_004187	Q00532	CDKL1_HUMAN	cyclin-dependent kinase-like 1	Error:Variant_position_missing_in_Q00532_after_alignment						cytoplasm|nucleus	ATP binding|cyclin-dependent protein kinase activity			ovary(1)|stomach(1)	2	all_epithelial(31;0.000746)|Breast(41;0.0102)					gttctatgacctgtgaagtaa	0												
NIN	51199	broad.mit.edu	37	14	51192775	51192775	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr14:51192775C>T	uc001wym.2	-	30	6279	c.6088G>A	c.(6088-6090)GAA>AAA	p.E2030K	NIN_uc001wyi.2_Missense_Mutation_p.E2030K|NIN_uc001wyj.2_RNA|NIN_uc001wyk.2_Missense_Mutation_p.E1317K|NIN_uc010tqp.1_Missense_Mutation_p.E2036K	NM_182946	NP_891991	Q8N4C6	NIN_HUMAN	ninein isoform 5	2030	Potential.				centrosome localization	centrosome|microtubule	calcium ion binding|GTP binding|protein binding			skin(3)|ovary(1)|kidney(1)|central_nervous_system(1)	6	all_epithelial(31;0.00244)|Breast(41;0.127)					ACCAGTTGTTCCTGGTTTCCC	0.393			T	PDGFRB	MPD							
NIN	51199	broad.mit.edu	37	14	51219236	51219236	+	Silent	SNP	C	C	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr14:51219236C>T	uc001wym.2	-	21	5141	c.4950G>A	c.(4948-4950)CAG>CAA	p.Q1650Q	NIN_uc001wyi.2_Silent_p.Q1650Q|NIN_uc001wyj.2_RNA|NIN_uc001wyk.2_Silent_p.Q937Q|NIN_uc010tqp.1_Silent_p.Q1656Q|NIN_uc001wyo.2_Silent_p.Q1650Q	NM_182946	NP_891991	Q8N4C6	NIN_HUMAN	ninein isoform 5	1650	Potential.				centrosome localization	centrosome|microtubule	calcium ion binding|GTP binding|protein binding			skin(3)|ovary(1)|kidney(1)|central_nervous_system(1)	6	all_epithelial(31;0.00244)|Breast(41;0.127)					CAGGCCATACCTGCACTTTAC	0.368			T	PDGFRB	MPD							
TRIM9	114088	broad.mit.edu	37	14	51561483	51561483	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr14:51561483C>T	uc001wyx.3	-	1	940	c.175G>A	c.(175-177)GAC>AAC	p.D59N	TRIM9_uc001wyy.2_Missense_Mutation_p.D59N|TRIM9_uc001wyz.3_Missense_Mutation_p.D59N	NM_015163	NP_055978	Q9C026	TRIM9_HUMAN	tripartite motif protein 9 isoform 1	59					proteasomal ubiquitin-dependent protein catabolic process	cell junction|cytoskeleton|dendrite|synaptic vesicle	protein homodimerization activity|ubiquitin-protein ligase activity|zinc ion binding			skin(2)|lung(1)	3	all_epithelial(31;0.00418)|Breast(41;0.148)					TAGTCATAGTCGGAGACCCCG	0.642												
C14orf166	51637	broad.mit.edu	37	14	52466489	52466489	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr14:52466489A>G	uc010aod.2	+	5	567	c.437A>G	c.(436-438)CAT>CGT	p.H146R	C14orf166_uc001wzm.3_Missense_Mutation_p.H12R|C14orf166_uc001wzn.3_Missense_Mutation_p.H12R	NM_016039	NP_057123	Q9Y224	CN166_HUMAN	homeobox prox 1	146						microtubule organizing center|nucleus|perinuclear region of cytoplasm|tRNA-splicing ligase complex	identical protein binding				0	Breast(41;0.0639)|all_epithelial(31;0.101)					ATTCAGCGTCATGATGATTAC	0.333												
BMP4	652	broad.mit.edu	37	14	54417278	54417278	+	Silent	SNP	C	C	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr14:54417278C>T	uc001xal.3	-	3	886	c.699G>A	c.(697-699)GGG>GGA	p.G233G	BMP4_uc010aoh.2_Silent_p.G233G|BMP4_uc001xao.3_Silent_p.G233G|BMP4_uc001xan.3_Silent_p.G233G	NM_130851	NP_570912	P12644	BMP4_HUMAN	bone morphogenetic protein 4 preproprotein	233					activation of MAPKK activity|blood vessel endothelial cell proliferation involved in sprouting angiogenesis|BMP signaling pathway involved in heart induction|BMP signaling pathway involved in nephric duct formation|branching involved in ureteric bud morphogenesis|bronchus development|bud dilation involved in lung branching|cardiac septum development|cartilage development|endocardial cushion development|epithelial cell proliferation involved in lung morphogenesis|intermediate mesodermal cell differentiation|lung alveolus development|lymphoid progenitor cell differentiation|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesonephros development|negative regulation of branch elongation involved in ureteric bud branching by BMP signaling pathway|negative regulation of branching involved in ureteric bud morphogenesis|negative regulation of cell proliferation involved in heart morphogenesis|negative regulation of glomerular mesangial cell proliferation|negative regulation of glomerulus development|negative regulation of immature T cell proliferation in thymus|negative regulation of MAP kinase activity|negative regulation of metanephric comma-shaped body morphogenesis|negative regulation of metanephric S-shaped body morphogenesis|negative regulation of mitosis|negative regulation of myoblast differentiation|negative regulation of phosphorylation|negative regulation of striated muscle tissue development|negative regulation of thymocyte apoptosis|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|positive regulation of apoptosis|positive regulation of bone mineralization|positive regulation of cardiac muscle fiber development|positive regulation of cartilage development|positive regulation of collagen biosynthetic process|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of kidney development|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of smooth muscle cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|protein localization to nucleus|pulmonary artery endothelial tube morphogenesis|secondary heart field specification|SMAD protein signal transduction|specification of ureteric bud anterior/posterior symmetry by BMP signaling pathway|steroid hormone mediated signaling pathway	extracellular space|proteinaceous extracellular matrix	BMP receptor binding|chemoattractant activity|cytokine activity|growth factor activity				0						CAATGGCTAGCCCATAGTTTG	0.577												
BMP4	652	broad.mit.edu	37	14	54418933	54418933	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr14:54418933G>T	uc001xal.3	-	2	195	c.8C>A	c.(7-9)CCT>CAT	p.P3H	BMP4_uc010aoh.2_Missense_Mutation_p.P3H|BMP4_uc001xao.3_Missense_Mutation_p.P3H|BMP4_uc001xan.3_Missense_Mutation_p.P3H	NM_130851	NP_570912	P12644	BMP4_HUMAN	bone morphogenetic protein 4 preproprotein	3					activation of MAPKK activity|blood vessel endothelial cell proliferation involved in sprouting angiogenesis|BMP signaling pathway involved in heart induction|BMP signaling pathway involved in nephric duct formation|branching involved in ureteric bud morphogenesis|bronchus development|bud dilation involved in lung branching|cardiac septum development|cartilage development|endocardial cushion development|epithelial cell proliferation involved in lung morphogenesis|intermediate mesodermal cell differentiation|lung alveolus development|lymphoid progenitor cell differentiation|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesonephros development|negative regulation of branch elongation involved in ureteric bud branching by BMP signaling pathway|negative regulation of branching involved in ureteric bud morphogenesis|negative regulation of cell proliferation involved in heart morphogenesis|negative regulation of glomerular mesangial cell proliferation|negative regulation of glomerulus development|negative regulation of immature T cell proliferation in thymus|negative regulation of MAP kinase activity|negative regulation of metanephric comma-shaped body morphogenesis|negative regulation of metanephric S-shaped body morphogenesis|negative regulation of mitosis|negative regulation of myoblast differentiation|negative regulation of phosphorylation|negative regulation of striated muscle tissue development|negative regulation of thymocyte apoptosis|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|positive regulation of apoptosis|positive regulation of bone mineralization|positive regulation of cardiac muscle fiber development|positive regulation of cartilage development|positive regulation of collagen biosynthetic process|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of kidney development|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of smooth muscle cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|protein localization to nucleus|pulmonary artery endothelial tube morphogenesis|secondary heart field specification|SMAD protein signal transduction|specification of ureteric bud anterior/posterior symmetry by BMP signaling pathway|steroid hormone mediated signaling pathway	extracellular space|proteinaceous extracellular matrix	BMP receptor binding|chemoattractant activity|cytokine activity|growth factor activity				0						TCGGTTACCAGGAATCATGGT	0.463												
C14orf105	55195	broad.mit.edu	37	14	57960431	57960431	+	Missense_Mutation	SNP	C	C	A	rs117025852	by1000genomes	TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr14:57960431C>A	uc001xcy.2	-	1	146	c.3G>T	c.(1-3)ATG>ATT	p.M1I	C14orf105_uc010trl.1_Missense_Mutation_p.M1I|C14orf105_uc010trm.1_5'UTR|C14orf105_uc010trn.1_5'UTR|C14orf105_uc001xcz.2_Missense_Mutation_p.M1I|C14orf105_uc010aox.1_RNA|C14orf105_uc010aoy.1_5'UTR	NM_018168	NP_060638	Q9NVL8	CN105_HUMAN	hypothetical protein LOC55195	1											0						GACTCAGGCCCATTTCATGTG	0.443												
C14orf135	64430	broad.mit.edu	37	14	60591468	60591468	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr14:60591468A>G	uc001xer.3	+	8	2399	c.1877A>G	c.(1876-1878)CAG>CGG	p.Q626R	C14orf135_uc001xeq.2_Missense_Mutation_p.Q626R|C14orf135_uc010apm.2_RNA	NM_022495	NP_071940	Q63HM2	CN135_HUMAN	hepatitis C virus F protein-binding protein 2	860						integral to membrane				ovary(2)	2		Myeloproliferative disorder(585;0.163)		OV - Ovarian serous cystadenocarcinoma(108;0.127)		GTAGAATCACAGAGGGTTGGT	0.373												
PRKCH	5583	broad.mit.edu	37	14	62016477	62016477	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr14:62016477G>T	uc001xfn.2	+	14	2285	c.1980G>T	c.(1978-1980)GAG>GAT	p.E660D	PRKCH_uc010tsa.1_Missense_Mutation_p.E499D|PRKCH_uc010tsb.1_Missense_Mutation_p.E228D|PRKCH_uc001xfo.2_RNA	NM_006255	NP_006246	P24723	KPCL_HUMAN	protein kinase C, eta	660	AGC-kinase C-terminal.				intracellular signal transduction|platelet activation	cytosol|plasma membrane	ATP binding|enzyme binding|metal ion binding|protein kinase C activity			ovary(2)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|large_intestine(1)|skin(1)	6				OV - Ovarian serous cystadenocarcinoma(108;0.045)|BRCA - Breast invasive adenocarcinoma(234;0.0906)|KIRC - Kidney renal clear cell carcinoma(182;0.182)		CAATTGATGAGGGACATCTTC	0.418												
PPP2R5E	5529	broad.mit.edu	37	14	63863413	63863413	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr14:63863413C>T	uc001xgd.1	-	6	1161	c.571G>A	c.(571-573)GAA>AAA	p.E191K	PPP2R5E_uc010tsf.1_Missense_Mutation_p.E115K|PPP2R5E_uc010tsg.1_Missense_Mutation_p.E115K|PPP2R5E_uc001xge.2_Missense_Mutation_p.E191K|PPP2R5E_uc010tsh.1_Missense_Mutation_p.E191K|PPP2R5E_uc001xgf.1_RNA	NM_006246	NP_006237	Q16537	2A5E_HUMAN	epsilon isoform of regulatory subunit B56,	191					signal transduction	cytoplasm|intracellular membrane-bounded organelle|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(108;0.00197)|all cancers(60;0.0153)|BRCA - Breast invasive adenocarcinoma(234;0.128)		CGAGGGTCTTCGCTGTCAAAT	0.368												
TMEM229B	161145	broad.mit.edu	37	14	67940214	67940214	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr14:67940214G>A	uc001xjk.2	-	3	837	c.427C>T	c.(427-429)CGC>TGC	p.R143C	TMEM229B_uc001xjj.1_RNA	NM_182526	NP_872332	Q8NBD8	T229B_HUMAN	transmembrane protein 229B	143	Cytoplasmic (Potential).					integral to membrane				central_nervous_system(1)	1						TTGTCGAAGCGGAGGCGGAGG	0.657												
PCNX	22990	broad.mit.edu	37	14	71455319	71455319	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr14:71455319C>T	uc001xmo.2	+	7	2793	c.2347C>T	c.(2347-2349)CGT>TGT	p.R783C	PCNX_uc001xmn.3_Missense_Mutation_p.R783C|PCNX_uc010are.1_Intron	NM_014982	NP_055797	Q96RV3	PCX1_HUMAN	pecanex-like 1	783						integral to membrane				ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		GTCATTTCGCCGTGAACGCAG	0.547												
SIPA1L1	26037	broad.mit.edu	37	14	72055785	72055785	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr14:72055785G>A	uc001xms.2	+	2	1544	c.1196G>A	c.(1195-1197)AGC>AAC	p.S399N	SIPA1L1_uc001xmt.2_Missense_Mutation_p.S399N|SIPA1L1_uc001xmu.2_Missense_Mutation_p.S399N|SIPA1L1_uc001xmv.2_Missense_Mutation_p.S399N	NM_015556	NP_056371	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like	399					actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity			ovary(3)|breast(1)	4				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		GGAAGCCTCAGCATGGACCAG	0.498												
RBM25	58517	broad.mit.edu	37	14	73566386	73566386	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr14:73566386T>A	uc001xno.2	+	9	1003	c.795T>A	c.(793-795)AAT>AAA	p.N265K	RBM25_uc001xnn.3_Missense_Mutation_p.N265K|RBM25_uc010ttu.1_Missense_Mutation_p.N265K|RBM25_uc001xnp.2_Missense_Mutation_p.N60K	NM_021239	NP_067062	P49756	RBM25_HUMAN	RNA binding motif protein 25	265					apoptosis|mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome|RNA splicing	cytoplasm|nuclear speck	mRNA binding|nucleotide binding|protein binding			central_nervous_system(2)|ovary(1)|breast(1)	4				BRCA - Breast invasive adenocarcinoma(234;0.00362)|OV - Ovarian serous cystadenocarcinoma(108;0.0688)		AGGATATAAATGCTATAGAAA	0.358												
C14orf43	91748	broad.mit.edu	37	14	74203800	74203800	+	Silent	SNP	G	G	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr14:74203800G>A	uc001xot.2	-	3	2433	c.1650C>T	c.(1648-1650)GAC>GAT	p.D550D	C14orf43_uc001xou.2_Silent_p.D550D|C14orf43_uc010tud.1_Silent_p.D550D|C14orf43_uc010arw.2_RNA	NM_194278	NP_919254	Q6PJG2	CN043_HUMAN	hypothetical protein LOC91748	550					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			ovary(4)|central_nervous_system(1)	5				BRCA - Breast invasive adenocarcinoma(234;0.00358)|KIRC - Kidney renal clear cell carcinoma(182;0.0878)|OV - Ovarian serous cystadenocarcinoma(108;0.115)		GACCCTTCCCGTCCTCATCAA	0.602												
KIAA0317	9870	broad.mit.edu	37	14	75139565	75139565	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr14:75139565A>G	uc001xqb.2	-	11	1896	c.1391T>C	c.(1390-1392)CTG>CCG	p.L464P	KIAA0317_uc010tut.1_Missense_Mutation_p.L303P|KIAA0317_uc001xqc.2_Missense_Mutation_p.L464P	NM_001039479	NP_001034568	O15033	K0317_HUMAN	hypothetical protein LOC9870	464					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	integral to membrane|intracellular	ubiquitin-protein ligase activity			ovary(2)|kidney(1)|central_nervous_system(1)|pancreas(1)	5				BRCA - Breast invasive adenocarcinoma(234;0.00404)		GCTGACCTTCAGGGTGACTTT	0.448												
FLRT2	23768	broad.mit.edu	37	14	86087980	86087980	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr14:86087980G>A	uc001xvr.2	+	2	889	c.122G>A	c.(121-123)CGC>CAC	p.R41H	FLRT2_uc010atd.2_Missense_Mutation_p.R41H	NM_013231	NP_037363	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	41	Extracellular (Potential).|LRRNT.				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			ovary(3)|haematopoietic_and_lymphoid_tissue(1)	4				BRCA - Breast invasive adenocarcinoma(234;0.0319)		AGTGTGTGCCGCTGCGACAGG	0.542												
CCDC88C	440193	broad.mit.edu	37	14	91780228	91780228	+	Silent	SNP	G	G	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr14:91780228G>A	uc010aty.2	-	15	2031	c.1932C>T	c.(1930-1932)AAC>AAT	p.N644N		NM_001080414	NP_001073883	Q9P219	DAPLE_HUMAN	DVL-binding protein DAPLE	644	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)				CCAGCCTCCCGTTCTCCTCCT	0.642												
FBLN5	10516	broad.mit.edu	37	14	92406952	92406952	+	Silent	SNP	G	G	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr14:92406952G>A	uc001xzx.3	-	3	554	c.81C>T	c.(79-81)TGC>TGT	p.C27C	FBLN5_uc010aud.2_Silent_p.C32C|FBLN5_uc010aue.2_Silent_p.C27C	NM_006329	NP_006320	Q9UBX5	FBLN5_HUMAN	fibulin 5 precursor	27					cell-matrix adhesion|elastic fiber assembly|protein localization at cell surface|regulation of removal of superoxide radicals	extracellular space|proteinaceous extracellular matrix|soluble fraction	calcium ion binding|integrin binding|protein C-terminus binding			ovary(3)|upper_aerodigestive_tract(1)|lung(1)|skin(1)	6		all_cancers(154;0.0722)				AGCCATTCGTGCACTGTGCCT	0.507												
LGMN	5641	broad.mit.edu	37	14	93176196	93176196	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr14:93176196T>G	uc001yav.2	-	12	1167	c.841A>C	c.(841-843)ATG>CTG	p.M281L	LGMN_uc001yat.2_Missense_Mutation_p.M281L|LGMN_uc001yau.2_Missense_Mutation_p.M281L|LGMN_uc001yaw.2_Missense_Mutation_p.M281L|LGMN_uc010aul.2_Missense_Mutation_p.M162L|LGMN_uc001yax.2_Missense_Mutation_p.M281L|LGMN_uc001yay.2_Missense_Mutation_p.M281L	NM_001008530	NP_001008530	Q99538	LGMN_HUMAN	legumain preproprotein	281					hormone biosynthetic process|negative regulation of neuron apoptosis|vitamin D metabolic process	lysosome	cysteine-type endopeptidase activity|protein serine/threonine kinase activity			skin(1)	1		all_cancers(154;0.0706)		COAD - Colon adenocarcinoma(157;0.224)		TGAAACTGCATCACTTTCATG	0.383												
SERPINA6	866	broad.mit.edu	37	14	94780499	94780499	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr14:94780499A>G	uc001ycv.2	-	2	591	c.487T>C	c.(487-489)TGG>CGG	p.W163R	SERPINA6_uc010auv.2_RNA	NM_001756	NP_001747	P08185	CBG_HUMAN	corticosteroid binding globulin precursor	163					regulation of proteolysis|transport	extracellular space	serine-type endopeptidase inhibitor activity|steroid binding			skin(3)|ovary(1)|central_nervous_system(1)	5		all_cancers(154;0.0482)|all_epithelial(191;0.166)		COAD - Colon adenocarcinoma(157;0.211)	Alclometasone(DB00240)|Beclomethasone(DB00394)|Ciclesonide(DB01410)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Halobetasol Propionate(DB00596)|Medrysone(DB00253)|Mitotane(DB00648)|Paramethasone(DB01384)|Prednisolone(DB00860)|Rimexolone(DB00896)|Triamcinolone(DB00620)	GCTGTTGCCCAGTCCTGGAAA	0.488												
SETD3	84193	broad.mit.edu	37	14	99871571	99871571	+	Silent	SNP	G	G	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr14:99871571G>T	uc001ygc.2	-	10	1232	c.1062C>A	c.(1060-1062)GCC>GCA	p.A354A		NM_032233	NP_115609	Q86TU7	SETD3_HUMAN	SET domain containing 3 isoform a	354					peptidyl-lysine dimethylation|peptidyl-lysine monomethylation|peptidyl-lysine trimethylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	histone methyltransferase activity (H3-K36 specific)|transcription coactivator activity				0		all_cancers(154;0.224)|all_epithelial(191;0.0644)|Melanoma(154;0.0866)				CCAAGACCTCGGCCTTCATGG	0.443												
RAGE	5891	broad.mit.edu	37	14	102695911	102695911	+	Silent	SNP	C	C	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr14:102695911C>T	uc001ylm.2	-	11	1291	c.1065G>A	c.(1063-1065)TCG>TCA	p.S355S	RAGE_uc010txv.1_Silent_p.S325S|RAGE_uc001yln.2_Silent_p.S173S|RAGE_uc001ylh.2_Intron|RAGE_uc001yli.2_RNA|RAGE_uc001yll.2_RNA|RAGE_uc001ylj.2_RNA|RAGE_uc001ylk.2_RNA	NM_014226	NP_055041	Q9UQ07	MOK_HUMAN	MAPK/MAK/MRK overlapping kinase	355					signal transduction	Golgi apparatus	ATP binding|cyclin-dependent protein kinase activity|protein binding			ovary(2)|breast(1)|central_nervous_system(1)	4						TGACCACTCCCGAAAGCTTTA	0.537												
TNFAIP2	7127	broad.mit.edu	37	14	103601572	103601572	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr14:103601572G>A	uc001ymm.1	+	11	1971	c.1840G>A	c.(1840-1842)GCT>ACT	p.A614T	TNFAIP2_uc010awo.1_Missense_Mutation_p.A274T|TNFAIP2_uc010txz.1_Missense_Mutation_p.A283T|TNFAIP2_uc010tya.1_Missense_Mutation_p.A97T	NM_006291	NP_006282	Q03169	TNAP2_HUMAN	tumor necrosis factor, alpha-induced protein 2	614					angiogenesis|cell differentiation	extracellular space				central_nervous_system(1)	1		Melanoma(154;0.155)	Epithelial(46;0.191)			CCACCTGAGCGCTATCCTGGC	0.637												
TDRD9	122402	broad.mit.edu	37	14	104482383	104482383	+	Silent	SNP	G	G	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr14:104482383G>A	uc001yom.3	+	22	2319	c.2289G>A	c.(2287-2289)GCG>GCA	p.A763A	TDRD9_uc001yon.3_Silent_p.A501A	NM_153046	NP_694591	Q8NDG6	TDRD9_HUMAN	tudor domain containing 9	763					cell differentiation|DNA methylation involved in gamete generation|fertilization|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	nucleus|piP-body	ATP binding|ATP-dependent helicase activity|nucleic acid binding	p.A478A(1)		ovary(2)|central_nervous_system(1)	3		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0768)				AGGAGATGGCGGTGAGGGAGC	0.498												
PACS2	23241	broad.mit.edu	37	14	105833659	105833659	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr14:105833659C>A	uc001yqt.2	+	5	708	c.533C>A	c.(532-534)CCC>CAC	p.P178H	PACS2_uc001yqs.2_Missense_Mutation_p.P111H|PACS2_uc001yqv.2_Missense_Mutation_p.P178H|PACS2_uc001yqu.2_Missense_Mutation_p.P178H	NM_015197	NP_056012	Q86VP3	PACS2_HUMAN	phosphofurin acidic cluster sorting protein 2	178					apoptosis|interspecies interaction between organisms	endoplasmic reticulum lumen|mitochondrion				pancreas(1)	1		all_cancers(154;0.0351)|all_epithelial(191;0.153)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.0145)|Epithelial(46;0.036)	Epithelial(152;0.138)		TCCAGCCAGCCCATTGACCAC	0.677												
ATP10A	57194	broad.mit.edu	37	15	25953366	25953366	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr15:25953366C>T	uc010ayu.2	-	11	2532	c.2426G>A	c.(2425-2427)CGC>CAC	p.R809H		NM_024490	NP_077816	O60312	AT10A_HUMAN	ATPase, class V, type 10A	809	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)		GCACAAGGTGCGCAGGCCTTC	0.582												
HERC2	8924	broad.mit.edu	37	15	28421604	28421604	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr15:28421604G>A	uc001zbj.2	-	63	9762	c.9656C>T	c.(9655-9657)GCG>GTG	p.A3219V		NM_004667	NP_004658	O95714	HERC2_HUMAN	hect domain and RLD 2	3219	RCC1 10.				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)		CTTGGTGAGCGCCAGGGAGAA	0.577												
OTUD7A	161725	broad.mit.edu	37	15	31819407	31819407	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr15:31819407G>A	uc001zfq.2	-	5	850	c.757C>T	c.(757-759)CAG>TAG	p.Q253*	OTUD7A_uc001zfr.2_Nonsense_Mutation_p.Q253*	NM_130901	NP_570971	Q8TE49	OTU7A_HUMAN	OTU domain containing 7A	253	OTU.|Catalytic (By similarity).|TRAF-binding (By similarity).					cytoplasm|nucleus	cysteine-type peptidase activity|DNA binding|zinc ion binding			pancreas(1)|skin(1)	2		all_lung(180;1.6e-09)		all cancers(64;2.44e-19)|Epithelial(43;6.82e-14)|GBM - Glioblastoma multiforme(186;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00189)|Lung(196;0.208)		TGCGTCTGCTGCCACCTCCAC	0.617												
AVEN	57099	broad.mit.edu	37	15	34159951	34159951	+	Missense_Mutation	SNP	G	G	C			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr15:34159951G>C	uc001zhj.2	-	5	774	c.718C>G	c.(718-720)CCC>GCC	p.P240A		NM_020371	NP_065104	Q9NQS1	AVEN_HUMAN	cell death regulator aven	240					anti-apoptosis|apoptosis	endomembrane system|intracellular|membrane|membrane fraction	protein binding			kidney(1)	1		all_lung(180;1.78e-08)		all cancers(64;1.66e-15)|GBM - Glioblastoma multiforme(113;1.42e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0359)		TCAAAGATGGGCCCCCTTCCT	0.542												
C15orf55	256646	broad.mit.edu	37	15	34648763	34648763	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr15:34648763C>T	uc001zif.2	+	7	2625	c.2470C>T	c.(2470-2472)CAG>TAG	p.Q824*	C15orf55_uc010ucc.1_Nonsense_Mutation_p.Q852*|C15orf55_uc010ucd.1_Nonsense_Mutation_p.Q842*	NM_175741	NP_786883	Q86Y26	NUT_HUMAN	nuclear protein in testis	824						cytoplasm|nucleus			BRD4_ENST00000263377/C15orf55(24)|BRD3/C15orf55(3)	midline_organs(25)|ovary(2)|lung(2)|skin(1)	30		all_lung(180;2.78e-08)		all cancers(64;4.53e-18)|GBM - Glioblastoma multiforme(113;8.29e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0249)		AAATCAAGAACAGAGCTGTGA	0.512			T	BRD3|BRD4	lethal midline carcinoma							
RTF1	23168	broad.mit.edu	37	15	41772868	41772868	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr15:41772868C>T	uc001zny.2	+	18	2128	c.2116C>T	c.(2116-2118)CGA>TGA	p.R706*		NM_015138	NP_055953	Q92541	RTF1_HUMAN	Paf1/RNA polymerase II complex component	706					histone modification|regulation of transcription, DNA-dependent|transcription initiation, DNA-dependent	nucleoplasm	protein binding|single-stranded DNA binding			ovary(2)	2		all_cancers(109;1.79e-19)|all_epithelial(112;8.18e-17)|Lung NSC(122;3.16e-11)|all_lung(180;8.14e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143)		OV - Ovarian serous cystadenocarcinoma(18;1.15e-16)|GBM - Glioblastoma multiforme(113;1.81e-06)|BRCA - Breast invasive adenocarcinoma(123;0.119)		CTACAAAAAACGACGAGGGCT	0.532												
MGA	23269	broad.mit.edu	37	15	41988756	41988756	+	Silent	SNP	T	T	C			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr15:41988756T>C	uc001zog.1	+	3	1639	c.1548T>C	c.(1546-1548)AAT>AAC	p.N516N	MGA_uc010ucy.1_Silent_p.N516N|MGA_uc010ucz.1_Silent_p.N516N	NM_001080541	NP_001074010	Q8IWI9	MGAP_HUMAN	MAX-interacting protein isoform 2	516						MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(6)|kidney(3)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	12		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)		AAAATTCCAATGAGACTGCCT	0.388												
ZSCAN29	146050	broad.mit.edu	37	15	43661966	43661966	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr15:43661966G>A	uc001zrk.1	-	1	293	c.146C>T	c.(145-147)CCG>CTG	p.P49L	ZSCAN29_uc001zrj.1_5'Flank|ZSCAN29_uc010bdf.1_Missense_Mutation_p.P48L|ZSCAN29_uc001zrl.1_RNA|ZSCAN29_uc010bdg.1_Missense_Mutation_p.P48L|ZSCAN29_uc001zrm.2_Missense_Mutation_p.P48L|TUBGCP4_uc001zrn.2_5'Flank|TUBGCP4_uc001zro.2_5'Flank	NM_152455	NP_689668	Q8IWY8	ZSC29_HUMAN	zinc finger protein 690	49	SCAN box.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			skin(1)	1		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.97e-07)		GCGCACCTCCGGCCTTAGCCA	0.557												
FBN1	2200	broad.mit.edu	37	15	48741074	48741074	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr15:48741074T>G	uc001zwx.1	-	46	5890	c.5562A>C	c.(5560-5562)CAA>CAC	p.Q1854H	FBN1_uc010beo.1_RNA	NM_000138	NP_000129	P35555	FBN1_HUMAN	fibrillin 1 precursor	1854	EGF-like 31; calcium-binding.				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			ovary(2)|large_intestine(1)	3		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		TGGGGATTTCTTGACATTCAT	0.353												
ONECUT1	3175	broad.mit.edu	37	15	53081051	53081051	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr15:53081051C>T	uc002aci.1	-	1	1159	c.1031G>A	c.(1030-1032)CGG>CAG	p.R344Q		NM_004498	NP_004489	Q9UBC0	HNF6_HUMAN	one cut homeobox 1	344	CUT.				endocrine pancreas development	nucleus	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding				0				all cancers(107;0.0708)		GAAGGTCTCCCGGCCGGATTT	0.672												
TCF12	6938	broad.mit.edu	37	15	57545469	57545469	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr15:57545469A>G	uc002aec.2	+	15	1482	c.1198A>G	c.(1198-1200)ATG>GTG	p.M400V	TCF12_uc010ugm.1_Missense_Mutation_p.M452V|TCF12_uc010ugn.1_Missense_Mutation_p.M420V|TCF12_uc002aea.2_Missense_Mutation_p.M424V|TCF12_uc010bfs.2_Intron|TCF12_uc002aeb.2_Missense_Mutation_p.M424V|TCF12_uc002aed.2_Missense_Mutation_p.M400V|TCF12_uc002aee.2_Missense_Mutation_p.M230V|TCF12_uc010bft.2_Missense_Mutation_p.M254V|TCF12_uc010ugo.1_Missense_Mutation_p.M164V|TCF12_uc010ugp.1_Missense_Mutation_p.M58V|TCF12_uc010ugq.1_Missense_Mutation_p.M34V|TCF12_uc010ugr.1_Missense_Mutation_p.M13V	NM_207038	NP_996921	Q99081	HTF4_HUMAN	transcription factor 12 isoform b	400					immune response|muscle organ development|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(5)|ovary(2)|lung(1)	8		Colorectal(260;0.0907)		all cancers(107;0.000313)|GBM - Glioblastoma multiforme(80;0.00878)|STAD - Stomach adenocarcinoma(283;0.239)		GCAGTCTCGAATGGAGGATCG	0.438			T	TEC	extraskeletal myxoid chondrosarcoma							
ALDH1A2	8854	broad.mit.edu	37	15	58285256	58285256	+	Silent	SNP	G	G	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr15:58285256G>A	uc002aex.2	-	6	629	c.571C>T	c.(571-573)CTG>TTG	p.L191L	ALDH1A2_uc002aey.2_Silent_p.L191L|ALDH1A2_uc010ugv.1_Silent_p.L170L|ALDH1A2_uc010ugw.1_Silent_p.L162L|ALDH1A2_uc002aew.2_Silent_p.L95L	NM_003888	NP_003879	O94788	AL1A2_HUMAN	aldehyde dehydrogenase 1A2 isoform 1	191					negative regulation of cell proliferation|neural tube development|response to cytokine stimulus	nucleus	3-chloroallyl aldehyde dehydrogenase activity|retinal binding|retinal dehydrogenase activity			central_nervous_system(1)	1				GBM - Glioblastoma multiforme(80;0.152)|all cancers(107;0.18)	NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162)	GCAAACATCAGCAGGGGGAAG	0.423												
GCNT3	9245	broad.mit.edu	37	15	59911456	59911456	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr15:59911456G>A	uc002age.2	+	3	1468	c.1019G>A	c.(1018-1020)CGG>CAG	p.R340Q	GCNT3_uc002agd.2_Missense_Mutation_p.R340Q	NM_004751	NP_004742	O95395	GCNT3_HUMAN	glucosaminyl (N-acetyl) transferase 3, mucin	340	Lumenal (Potential).				protein O-linked glycosylation	Golgi membrane|integral to membrane|membrane fraction	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity|N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity			ovary(1)|central_nervous_system(1)	2						CAGCGTGCACGGTGGATGCCT	0.507												
TLN2	83660	broad.mit.edu	37	15	62994288	62994288	+	Silent	SNP	C	C	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr15:62994288C>T	uc002alb.3	+	15	1794	c.1794C>T	c.(1792-1794)GCC>GCT	p.A598A		NM_015059	NP_055874	Q9Y4G6	TLN2_HUMAN	talin 2	598					cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton			ovary(5)|upper_aerodigestive_tract(2)|lung(2)|breast(2)	11						AGCTATTGGCCGCCCTCATGG	0.582												
SLC24A1	9187	broad.mit.edu	37	15	65946296	65946296	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr15:65946296C>T	uc010ujf.1	+	10	3466	c.3179C>T	c.(3178-3180)GCG>GTG	p.A1060V	SLC24A1_uc010uje.1_Intron|SLC24A1_uc010ujg.1_Missense_Mutation_p.A1030V|SLC24A1_uc010ujh.1_Missense_Mutation_p.A1042V|SLC24A1_uc010uji.1_Missense_Mutation_p.A387V	NM_004727	NP_004718	O60721	NCKX1_HUMAN	solute carrier family 24	1060	Helical; (Potential).				response to light intensity|visual perception	integral to plasma membrane|membrane fraction|outer membrane	calcium, potassium:sodium antiporter activity|protein binding|symporter activity				0						TCTTCAATTGCGTCATGTAAA	0.383												
ITGA11	22801	broad.mit.edu	37	15	68617468	68617468	+	Splice_Site	SNP	C	C	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr15:68617468C>T	uc002ari.2	-	18	2409	c.2322_splice	c.e18+1	p.S774_splice	ITGA11_uc010bib.2_Splice_Site_p.S774_splice	NM_001004439	NP_001004439	Q9UKX5	ITA11_HUMAN	integrin, alpha 11 precursor						cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development	integrin complex	collagen binding|receptor activity			kidney(2)|pancreas(1)	3					Tirofiban(DB00775)	CCGAGATGTACCGAGACTCTG	0.622												
NOX5	79400	broad.mit.edu	37	15	69329504	69329504	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr15:69329504G>A	uc002ars.1	+	8	1345	c.1325G>A	c.(1324-1326)CGC>CAC	p.R442H	NOX5_uc002arp.1_Missense_Mutation_p.R424H|NOX5_uc002arq.1_Missense_Mutation_p.R396H|NOX5_uc010bid.1_Missense_Mutation_p.R407H|NOX5_uc002arr.1_Missense_Mutation_p.R414H|NOX5_uc010bie.1_Missense_Mutation_p.R242H|NOX5_uc010bif.1_RNA	NM_024505	NP_078781	Q96PH1	NOX5_HUMAN	NADPH oxidase, EF-hand calcium binding domain 5	442	FAD-binding FR-type.|Helical; (Potential).				angiogenesis|angiogenesis|cytokine secretion|cytokinesis|electron transport chain|endothelial cell proliferation|induction of apoptosis|positive regulation of reactive oxygen species metabolic process|regulation of fusion of sperm to egg plasma membrane|regulation of proton transport|superoxide anion generation	endoplasmic reticulum|endoplasmic reticulum|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|hydrogen ion channel activity|NADP binding|superoxide-generating NADPH oxidase activity			breast(1)|pancreas(1)	2						GCAGTGTCCCGCATGGCAGCC	0.562												
LRRC49	54839	broad.mit.edu	37	15	71193355	71193355	+	Silent	SNP	C	C	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr15:71193355C>T	uc002asw.2	+	4	535	c.288C>T	c.(286-288)AGC>AGT	p.S96S	LRRC49_uc002asu.2_Silent_p.S86S|LRRC49_uc002asx.2_Silent_p.S52S|LRRC49_uc010ukf.1_Silent_p.S101S|LRRC49_uc002asy.2_5'UTR|LRRC49_uc002asz.2_Silent_p.S68S	NM_017691	NP_060161	Q8IUZ0	LRC49_HUMAN	leucine rich repeat containing 49	96						cytoplasm|microtubule				ovary(1)	1						ACAGGTTGAGCCTAGAAAGGT	0.363												
NEO1	4756	broad.mit.edu	37	15	73470705	73470705	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr15:73470705T>C	uc002avm.3	+	7	1370	c.1228T>C	c.(1228-1230)TGC>CGC	p.C410R	NEO1_uc010ukx.1_Missense_Mutation_p.C410R|NEO1_uc010uky.1_Missense_Mutation_p.C410R|NEO1_uc010ukz.1_5'UTR|NEO1_uc002avn.3_Missense_Mutation_p.C55R	NM_002499	NP_002490	Q92859	NEO1_HUMAN	neogenin homolog 1 precursor	410	Extracellular (Potential).|Ig-like C2-type 4.				axon guidance|cell adhesion|positive regulation of muscle cell differentiation	Golgi apparatus|integral to plasma membrane|nucleus				pancreas(1)	1						GTTCTATCAGTGCATTGCTGA	0.363												
NEO1	4756	broad.mit.edu	37	15	73594972	73594972	+	Silent	SNP	C	C	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr15:73594972C>T	uc002avm.3	+	29	4463	c.4321C>T	c.(4321-4323)CTG>TTG	p.L1441L	NEO1_uc010ukx.1_Silent_p.L1430L|NEO1_uc010uky.1_Silent_p.L1388L|NEO1_uc010ukz.1_Silent_p.L854L|NEO1_uc002avn.3_Silent_p.L1079L	NM_002499	NP_002490	Q92859	NEO1_HUMAN	neogenin homolog 1 precursor	1441	Cytoplasmic (Potential).				axon guidance|cell adhesion|positive regulation of muscle cell differentiation	Golgi apparatus|integral to plasma membrane|nucleus				pancreas(1)	1						ACCAGATGAGCTGACCAAAGA	0.507												
CSPG4	1464	broad.mit.edu	37	15	75968797	75968797	+	Silent	SNP	A	A	G			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr15:75968797A>G	uc002baw.2	-	10	6156	c.6063T>C	c.(6061-6063)CAT>CAC	p.H2021H		NM_001897	NP_001888	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4 precursor	2021	Extracellular (Potential).|CSPG 14.|Cysteine-containing.|Neurite growth inhibition (By similarity).				angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane	protein kinase binding|signal transducer activity			ovary(2)|pancreas(1)	3						TGAAGTGGTCATGAGAGGAGG	0.602												
CHRNB4	1143	broad.mit.edu	37	15	78921917	78921917	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr15:78921917C>T	uc002bed.1	-	5	842	c.730G>A	c.(730-732)GTG>ATG	p.V244M	CHRNB4_uc002bee.1_Intron|CHRNB4_uc010blh.1_Missense_Mutation_p.V62M	NM_000750	NP_000741	P30926	ACHB4_HUMAN	cholinergic receptor, nicotinic, beta 4	244	Helical; (Potential).				regulation of neurotransmitter secretion|synaptic transmission involved in micturition|synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity				0						GTGGTGAGCACGCAGGGGATG	0.547												
SH3GL3	6457	broad.mit.edu	37	15	84237297	84237297	+	Silent	SNP	A	A	G			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr15:84237297A>G	uc002bjw.2	+	4	399	c.204A>G	c.(202-204)CTA>CTG	p.L68L	SH3GL3_uc010uot.1_Silent_p.L68L|SH3GL3_uc002bjx.2_5'UTR|SH3GL3_uc002bju.2_Silent_p.L76L|SH3GL3_uc002bjv.2_RNA	NM_003027	NP_003018	Q99963	SH3G3_HUMAN	SH3-domain GRB2-like 3	68	Required for dimerization upon membrane association (By similarity).|BAR.				central nervous system development|endocytosis|signal transduction	early endosome membrane	identical protein binding|lipid binding			pancreas(1)|central_nervous_system(1)|skin(1)	3						GAGCTAAGCTAGGAATGCTGA	0.448												
ZSCAN2	54993	broad.mit.edu	37	15	85164068	85164068	+	Silent	SNP	C	C	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr15:85164068C>T	uc002bkr.2	+	3	868	c.642C>T	c.(640-642)GGC>GGT	p.G214G	ZSCAN2_uc010bmz.1_Silent_p.G212G|ZSCAN2_uc010bna.2_Silent_p.G64G|ZSCAN2_uc010uox.1_Intron|ZSCAN2_uc010uoy.1_Intron|ZSCAN2_uc010uoz.1_Intron	NM_181877	NP_870992	Q7Z7L9	ZSCA2_HUMAN	zinc finger protein 29 isoform 1	214					cell differentiation|multicellular organismal development|spermatogenesis|viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2				UCEC - Uterine corpus endometrioid carcinoma (272;0.168)|all cancers(203;5.43e-22)		GCCTGCAGGGCACCTACCTAG	0.602												
SEMA4B	10509	broad.mit.edu	37	15	90766851	90766851	+	Silent	SNP	C	C	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr15:90766851C>T	uc002boy.2	+	9	1205	c.922C>T	c.(922-924)CTG>TTG	p.L308L	SEMA4B_uc002boz.2_Silent_p.L308L|SEMA4B_uc010uqd.1_Silent_p.L146L|SEMA4B_uc002bpa.2_Silent_p.L146L|SEMA4B_uc010bnv.1_5'UTR	NM_020210	NP_064595			semaphorin 4B precursor											ovary(1)|breast(1)|kidney(1)	3	Melanoma(11;0.00551)|Lung NSC(78;0.0125)|all_lung(78;0.0272)		BRCA - Breast invasive adenocarcinoma(143;0.0107)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.217)			CAAGGCCCAGCTGCTGTGCTC	0.637												
SLCO3A1	28232	broad.mit.edu	37	15	92647631	92647631	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr15:92647631C>T	uc002bqx.2	+	4	1069	c.868C>T	c.(868-870)CCC>TCC	p.P290S	SLCO3A1_uc002bqy.2_Missense_Mutation_p.P290S|SLCO3A1_uc010boc.1_RNA|SLCO3A1_uc002bqz.1_Missense_Mutation_p.P232S	NM_013272	NP_037404	Q9UIG8	SO3A1_HUMAN	solute carrier organic anion transporter family,	290	Cytoplasmic (Potential).				sodium-independent organic anion transport	integral to membrane|plasma membrane	sodium-independent organic anion transmembrane transporter activity			skin(1)	1	Lung NSC(78;0.0158)|all_lung(78;0.0255)		BRCA - Breast invasive adenocarcinoma(143;0.0841)			ACAGTCCCTGCCCCCGCACTC	0.617												
MCTP2	55784	broad.mit.edu	37	15	94901781	94901781	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr15:94901781G>A	uc002btj.2	+	9	1306	c.1241G>A	c.(1240-1242)GGC>GAC	p.G414D	MCTP2_uc010urg.1_Silent_p.G392G|MCTP2_uc002bti.2_Missense_Mutation_p.G414D|MCTP2_uc010boj.2_Missense_Mutation_p.G143D|MCTP2_uc010bok.2_Missense_Mutation_p.G414D|MCTP2_uc002btk.3_Missense_Mutation_p.G2D|MCTP2_uc002btl.2_Missense_Mutation_p.G2D	NM_018349	NP_060819	Q6DN12	MCTP2_HUMAN	multiple C2 domains, transmembrane 2 isoform 1	414	C2 2.				calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			ovary(1)|pancreas(1)|skin(1)	3	Lung NSC(78;0.0821)|all_lung(78;0.148)		BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)			GACAGGATGGGCATTTTGGAC	0.453												
SYNM	23336	broad.mit.edu	37	15	99671044	99671044	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr15:99671044G>A	uc002bup.2	+	6	2599	c.2479G>A	c.(2479-2481)GAG>AAG	p.E827K	SYNM_uc002buo.2_Missense_Mutation_p.E827K|SYNM_uc002buq.2_Intron	NM_145728	NP_663780	O15061	SYNEM_HUMAN	desmuslin isoform A	827	Tail.				intermediate filament cytoskeleton organization	adherens junction|costamere|intermediate filament|neurofilament cytoskeleton	intermediate filament binding|structural constituent of cytoskeleton|structural constituent of muscle|vinculin binding			ovary(3)|central_nervous_system(1)	4						TTCAGAGGGCGAGCAGAGTTA	0.547												
TM2D3	80213	broad.mit.edu	37	15	102182749	102182749	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr15:102182749G>A	uc002bxi.2	-	6	707	c.677C>T	c.(676-678)ACG>ATG	p.T226M	TM2D3_uc010usg.1_Intron|TM2D3_uc002bxh.2_Missense_Mutation_p.T161M|TM2D3_uc002bxj.2_Missense_Mutation_p.T200M|TM2D3_uc002bxk.2_Missense_Mutation_p.T161M	NM_078474	NP_510883	Q9BRN9	TM2D3_HUMAN	TM2 domain containing 3 isoform a	226	Helical; (Potential).					integral to membrane				ovary(1)	1	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)			GTCTATCAGCGTCCATATTCC	0.557												
TARSL2	123283	broad.mit.edu	37	15	102224299	102224299	+	Silent	SNP	G	G	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr15:102224299G>A	uc002bxm.2	-	12	1684	c.1629C>T	c.(1627-1629)CAC>CAT	p.H543H	TARSL2_uc002bxl.2_Silent_p.H88H|TARSL2_uc010usi.1_RNA	NM_152334	NP_689547	A2RTX5	SYTC2_HUMAN	threonyl-tRNA synthetase-like 2	543					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)			TGCAAAAAATGTGAGCATCGT	0.468												
AXIN1	8312	broad.mit.edu	37	16	339512	339512	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr16:339512C>T	uc002cgp.1	-	10	2567	c.2390G>A	c.(2389-2391)CGC>CAC	p.R797H	AXIN1_uc002cgq.1_Missense_Mutation_p.R761H	NM_003502	NP_003493	O15169	AXIN1_HUMAN	axin 1 isoform a	797	DIX.				activation of JUN kinase activity|activation of protein kinase activity|apoptosis|axial mesoderm formation|canonical Wnt receptor signaling pathway involved in neural plate anterior/posterior pattern formation|cellular protein complex assembly|cellular response to organic cyclic compound|cytoplasmic microtubule organization|determination of left/right symmetry|dorsal/ventral axis specification|embryonic eye morphogenesis|embryonic skeletal joint morphogenesis|forebrain anterior/posterior pattern formation|muscle cell development|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fat cell differentiation|olfactory placode formation|optic placode formation|positive regulation of JNK cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of transcription, DNA-dependent|positive regulation of ubiquitin-protein ligase activity|regulation of catenin import into nucleus|tail morphogenesis|Wnt receptor signaling pathway involved in forebrain neuron fate commitment|Wnt receptor signaling pathway involved in somitogenesis	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|cell cortex|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|cytosol|lateral plasma membrane|nucleus|perinuclear region of cytoplasm|postsynaptic density	armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|I-SMAD binding|p53 binding|protein complex scaffold|protein homodimerization activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding			breast(1)|liver(1)	2		all_cancers(16;2.75e-07)|all_epithelial(16;1.6e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00774)|all_lung(18;0.0187)				CACCAGGGTGCGGTAGGGGAT	0.652												
JMJD8	339123	broad.mit.edu	37	16	733072	733072	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr16:733072G>A	uc002ciw.1	-	8	715	c.658C>T	c.(658-660)CCA>TCA	p.P220S	JMJD8_uc002cix.1_Missense_Mutation_p.P220S|JMJD8_uc002ciy.1_Missense_Mutation_p.P190S	NM_001005920	NP_001005920	Q96S16	JMJD8_HUMAN	jumonji domain containing 8	269	JmjC.									breast(1)	1						TTCTCAGGTGGGTAAAGGAAC	0.642												
BAIAP3	8938	broad.mit.edu	37	16	1394670	1394670	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr16:1394670C>A	uc002clk.1	+	19	1833	c.1833C>A	c.(1831-1833)TGC>TGA	p.C611*	BAIAP3_uc002clj.2_Nonsense_Mutation_p.C593*|BAIAP3_uc010uuz.1_Nonsense_Mutation_p.C576*|BAIAP3_uc010uva.1_Nonsense_Mutation_p.C548*|BAIAP3_uc010uvc.1_Nonsense_Mutation_p.C540*	NM_003933	NP_003924	O94812	BAIP3_HUMAN	BAI1-associated protein 3	611					G-protein coupled receptor protein signaling pathway|neurotransmitter secretion		protein C-terminus binding			pancreas(1)	1		Hepatocellular(780;0.0893)				TTCAGTTCTGCTACAGTGTGT	0.652												
RPS2	6187	broad.mit.edu	37	16	2012162	2012162	+	Silent	SNP	G	G	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr16:2012162G>A	uc002cnn.2	-	6	1007	c.819C>T	c.(817-819)CTC>CTT	p.L273L	RPS2_uc010bsa.1_RNA|RPS2_uc002cnl.2_Silent_p.L215L|RPS2_uc002cnm.2_RNA|RPS2_uc002cno.2_Silent_p.L273L|SNHG9_uc002cnr.2_5'Flank	NM_002952	NP_002943	P15880	RS2_HUMAN	ribosomal protein S2	273					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit|nucleoplasm	fibroblast growth factor 1 binding|fibroblast growth factor 3 binding|RNA binding|structural constituent of ribosome				0						GGGTCTTGACGAGGTGGTCAG	0.493												
CASKIN1	57524	broad.mit.edu	37	16	2240127	2240127	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr16:2240127A>G	uc010bsg.1	-	3	223	c.191T>C	c.(190-192)TTG>TCG	p.L64S		NM_020764	NP_065815	Q8WXD9	CSKI1_HUMAN	CASK interacting protein 1	64	ANK 1.				signal transduction	cytoplasm				skin(2)	2						CAGGCTGATCAATTCCGTGTT	0.672												
MLST8	64223	broad.mit.edu	37	16	2258499	2258499	+	Silent	SNP	G	G	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr16:2258499G>A	uc002coz.2	+	8	866	c.747G>A	c.(745-747)ACG>ACA	p.T249T	MLST8_uc002coy.2_Silent_p.T249T|MLST8_uc002cpa.2_Silent_p.T65T|MLST8_uc002cpb.2_Silent_p.T248T|MLST8_uc010uvx.1_Silent_p.T183T|MLST8_uc002cpc.2_Silent_p.T249T|MLST8_uc002cpd.2_Silent_p.T183T|MLST8_uc002cpe.2_Silent_p.T249T|MLST8_uc002cpg.2_Silent_p.T268T|MLST8_uc002cph.2_RNA|MLST8_uc002cpf.2_Silent_p.T249T	NM_022372	NP_071767	Q9BVC4	LST8_HUMAN	G protein beta subunit-like	249	WD 6.				insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|T cell costimulation	cytosol	protein binding				0						TCTGGAGGACGTCCAACTTCT	0.662												
ADCY9	115	broad.mit.edu	37	16	4164627	4164627	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr16:4164627C>T	uc002cvx.2	-	2	1356	c.817G>A	c.(817-819)GGA>AGA	p.G273R		NM_001116	NP_001107	O60503	ADCY9_HUMAN	adenylate cyclase 9	273	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 plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			ovary(4)|large_intestine(1)|central_nervous_system(1)	6						GCCCCGGCTCCGGGCGAGGGG	0.622												
ADCY9	115	broad.mit.edu	37	16	4164980	4164980	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr16:4164980A>G	uc002cvx.2	-	2	1003	c.464T>C	c.(463-465)GTG>GCG	p.V155A		NM_001116	NP_001107	O60503	ADCY9_HUMAN	adenylate cyclase 9	155	Helical; (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			ovary(4)|large_intestine(1)|central_nervous_system(1)	6						GCCCACACACACCAGGAGGAA	0.587												
TFAP4	7023	broad.mit.edu	37	16	4312636	4312636	+	Silent	SNP	G	G	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr16:4312636G>A	uc010uxg.1	-	2	410	c.156C>T	c.(154-156)ATC>ATT	p.I52I		NM_003223	NP_003214	Q01664	TFAP4_HUMAN	transcription factor AP-4 (activating enhancer	52	Basic motif.				DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|negative regulation by host of viral transcription|negative regulation of cell cycle arrest|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|positive regulation by host of viral transcription|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|regulation of S phase of mitotic cell cycle	transcriptional repressor complex	E-box binding|histone deacetylase binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			ovary(1)	1						TGCTGTTGGCGATCTCCCGCC	0.627												
MGRN1	23295	broad.mit.edu	37	16	4701990	4701990	+	Silent	SNP	C	C	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr16:4701990C>T	uc002cwz.2	+	3	370	c.234C>T	c.(232-234)CAC>CAT	p.H78H	MGRN1_uc002cxa.2_Silent_p.H78H|MGRN1_uc010btx.2_Silent_p.H78H|MGRN1_uc010btw.2_Silent_p.H78H|MGRN1_uc002cxb.2_Silent_p.H78H|MGRN1_uc010uxo.1_Silent_p.H78H|MGRN1_uc010uxp.1_Silent_p.H78H|MGRN1_uc010uxq.1_RNA	NM_001142290	NP_001135762	O60291	MGRN1_HUMAN	mahogunin, ring finger 1 isoform 3	78					endosome to lysosome transport|negative regulation of cAMP-mediated signaling|negative regulation of G-protein coupled receptor protein signaling pathway|protein monoubiquitination	cytosol|early endosome|nucleus|plasma membrane|plasma membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)|skin(1)	2						CTGCCCCCCACGAGCCCGTGA	0.617												
A2BP1	54715	broad.mit.edu	37	16	7645632	7645632	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr16:7645632C>T	uc002cys.2	+	8	1538	c.550C>T	c.(550-552)CGT>TGT	p.R184C	A2BP1_uc010buf.1_Missense_Mutation_p.R184C|A2BP1_uc002cyr.1_Missense_Mutation_p.R183C|A2BP1_uc002cyt.2_Missense_Mutation_p.R184C|A2BP1_uc010uxz.1_Missense_Mutation_p.R227C|A2BP1_uc010uya.1_Intron|A2BP1_uc002cyv.1_Missense_Mutation_p.R184C|A2BP1_uc010uyb.1_Missense_Mutation_p.R184C|A2BP1_uc002cyw.2_Missense_Mutation_p.R204C|A2BP1_uc002cyy.2_Missense_Mutation_p.R204C|A2BP1_uc002cyx.2_Missense_Mutation_p.R204C|A2BP1_uc010uyc.1_Missense_Mutation_p.R204C	NM_018723	NP_061193	Q9NWB1	RFOX1_HUMAN	ataxin 2-binding protein 1 isoform 4	184	RRM.	Interaction with RNA.			mRNA processing|RNA splicing|RNA transport	nucleus|trans-Golgi network	nucleotide binding|protein C-terminus binding|RNA binding				0		all_cancers(2;4.54e-52)|Colorectal(2;6.95e-44)|all_epithelial(2;1.15e-37)|Lung NSC(2;0.000289)|all_lung(2;0.00148)|Myeloproliferative disorder(2;0.0122)|Medulloblastoma(2;0.0354)|all_neural(2;0.0381)|all_hematologic(2;0.0749)|Renal(2;0.0758)|Melanoma(2;0.211)		Colorectal(1;3.55e-51)|COAD - Colon adenocarcinoma(2;1.92e-46)|all cancers(1;5.36e-16)|Epithelial(1;3.98e-15)|READ - Rectum adenocarcinoma(2;3.71e-05)|GBM - Glioblastoma multiforme(1;0.0499)		GGTAGAGGGCCGTAAAATCGA	0.453												
NUBP1	4682	broad.mit.edu	37	16	10850626	10850626	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr16:10850626C>T	uc002daa.1	+	6	463	c.440C>T	c.(439-441)CCC>CTC	p.P147L	NUBP1_uc010bum.1_Intron|NUBP1_uc002dab.1_Missense_Mutation_p.P136L	NM_002484	NP_002475	P53384	NUBP1_HUMAN	nucleotide binding protein 1	147					cell growth|cellular iron ion homeostasis|iron-sulfur cluster assembly	cytosol	4 iron, 4 sulfur cluster binding|ATP binding|metal ion binding|nucleoside-triphosphatase activity|protein binding			ovary(1)|skin(1)	2						TGGAGGGGACCCAAGAAAAAC	0.532												
BFAR	51283	broad.mit.edu	37	16	14758878	14758878	+	Silent	SNP	A	A	G			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr16:14758878A>G	uc002dco.2	+	7	1391	c.1110A>G	c.(1108-1110)TCA>TCG	p.S370S	BFAR_uc002dcp.2_Silent_p.S245S|BFAR_uc010uzh.1_Silent_p.S242S	NM_016561	NP_057645	Q9NZS9	BFAR_HUMAN	bifunctional apoptosis regulator	370	Helical; (Potential).				anti-apoptosis|apoptosis	endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction	structural molecule activity|zinc ion binding			ovary(1)|skin(1)	2						TGTTACTCTCAGTTCTGGAAT	0.428												
ACSM1	116285	broad.mit.edu	37	16	20702489	20702489	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr16:20702489G>A	uc002dhm.1	-	1	90	c.22C>T	c.(22-24)CGG>TGG	p.R8W	ACSM1_uc002dhn.1_RNA|ACSM1_uc010bwg.1_Missense_Mutation_p.R8W	NM_052956	NP_443188	Q08AH1	ACSM1_HUMAN	acyl-CoA synthetase medium-chain family member	8					benzoate metabolic process|butyrate metabolic process|energy derivation by oxidation of organic compounds|fatty acid oxidation|xenobiotic metabolic process	mitochondrial matrix	acyl-CoA ligase activity|ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding			central_nervous_system(1)|skin(1)	2						CAGAGGGTCCGGAACCTCATT	0.532												
DNAH3	55567	broad.mit.edu	37	16	21042447	21042447	+	Missense_Mutation	SNP	G	G	A	rs146173789		TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr16:21042447G>A	uc010vbe.1	-	37	5359	c.5359C>T	c.(5359-5361)CGC>TGC	p.R1787C		NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1787	AAA 2 (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)		ATCCACTTGCGATCATCAGAG	0.458												
IL4R	3566	broad.mit.edu	37	16	27353456	27353456	+	Silent	SNP	T	T	C			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr16:27353456T>C	uc002don.2	+	4	327	c.85T>C	c.(85-87)TTG>CTG	p.L29L	IL4R_uc002dom.2_Silent_p.L29L|IL4R_uc002dop.3_Silent_p.L14L|IL4R_uc010bxy.2_Silent_p.L29L|IL4R_uc002doo.2_5'UTR	NM_000418	NP_000409	P24394	IL4RA_HUMAN	interleukin 4 receptor alpha chain isoform a	29	Extracellular (Potential).				immune response|production of molecular mediator involved in inflammatory response	integral to plasma membrane	identical protein binding|interleukin-4 receptor activity|receptor signaling protein activity			ovary(1)|skin(1)	2						CATGAAGGTCTTGCAGGAGCC	0.577												
IL27	246778	broad.mit.edu	37	16	28513323	28513323	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr16:28513323C>T	uc002dqc.2	-	4	459	c.436G>A	c.(436-438)GAT>AAT	p.D146N	uc010vct.1_Intron	NM_145659	NP_663634	Q8NEV9	IL27A_HUMAN	interleukin 27 precursor	146					inflammatory response|innate immune response|positive regulation of interferon-gamma biosynthetic process|regulation of defense response to virus|regulation of T cell proliferation|regulation of T-helper 1 cell differentiation	extracellular space	cytokine activity|interleukin-27 receptor binding				0						CGCTGCAGATCGCGGAGGTCC	0.652												
KCTD13	253980	broad.mit.edu	37	16	29922371	29922371	+	Silent	SNP	G	G	A	rs143894366		TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr16:29922371G>A	uc002duv.2	-	5	872	c.681C>T	c.(679-681)TAC>TAT	p.Y227Y	uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|ASPHD1_uc002duu.3_Intron|ASPHD1_uc010bzi.2_Intron|KCTD13_uc010vee.1_RNA	NM_178863	NP_849194	Q8WZ19	BACD1_HUMAN	potassium channel tetramerisation domain	227					cell migration|DNA replication|negative regulation of Rho protein signal transduction|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|stress fiber assembly	Cul3-RING ubiquitin ligase complex|nucleus|voltage-gated potassium channel complex	GTP-Rho binding|voltage-gated potassium channel activity				0						GGCCCTGCCCGTAGAAAGACC	0.587												
HIRIP3	8479	broad.mit.edu	37	16	30005496	30005496	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr16:30005496T>C	uc002dve.2	-	4	1431	c.970A>G	c.(970-972)AAG>GAG	p.K324E	uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|INO80E_uc002dvg.1_5'Flank|INO80E_uc002dvh.1_5'Flank|INO80E_uc002dvi.1_5'Flank|INO80E_uc002dvj.1_5'Flank|INO80E_uc002dvk.1_5'Flank|HIRIP3_uc002dvf.2_Intron	NM_003609	NP_003600	Q9BW71	HIRP3_HUMAN	HIRA interacting protein 3	324					chromatin assembly or disassembly	nucleus	protein binding			central_nervous_system(1)	1						TTCCCACCCTTAAGCTGGGTC	0.577												
TBX6	6911	broad.mit.edu	37	16	30100291	30100291	+	Silent	SNP	G	G	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr16:30100291G>T	uc010veh.1	-	4	654	c.594C>A	c.(592-594)ACC>ACA	p.T198T	uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|TBX6_uc002dwk.1_Silent_p.T198T	NM_004608	NP_004599	O95947	TBX6_HUMAN	T-box 6	198	T-box.				anatomical structure morphogenesis|mesoderm development|multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)|pancreas(1)	2						GCGTGCTGTTGGTGAGCTTGA	0.652												
ZNF668	79759	broad.mit.edu	37	16	31072722	31072722	+	Silent	SNP	A	A	G			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr16:31072722A>G	uc010caf.2	-	3	1884	c.1527T>C	c.(1525-1527)GCT>GCC	p.A509A	ZNF668_uc002eao.2_Silent_p.A509A	NM_024706	NP_078982	Q96K58	ZN668_HUMAN	zinc finger protein 668	509					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)	4						GCTTCTCGTCAGCCTCCTCAC	0.657												
MYST1	84148	broad.mit.edu	37	16	31131803	31131803	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr16:31131803C>T	uc002eay.2	+	3	448	c.430C>T	c.(430-432)CGC>TGC	p.R144C	MYST1_uc002eax.2_Missense_Mutation_p.R144C	NM_032188	NP_115564	Q9H7Z6	MYST1_HUMAN	MYST histone acetyltransferase 1 isoform 1	144					histone H4-K16 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MLL1 complex|MSL complex	histone acetyltransferase activity|metal ion binding|methylated histone residue binding|transcription factor binding			ovary(1)	1						CAACCAAAAGCGCAAGCATGA	0.567												
ITGAX	3687	broad.mit.edu	37	16	31383801	31383801	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr16:31383801G>A	uc002ebu.1	+	18	2330	c.2263G>A	c.(2263-2265)GCC>ACC	p.A755T	ITGAX_uc002ebt.2_Missense_Mutation_p.A755T	NM_000887	NP_000878	P20702	ITAX_HUMAN	integrin alpha X precursor	755	Extracellular (Potential).				blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity			ovary(2)|central_nervous_system(1)|pancreas(1)	4						TATGCTGGCCGCCGATGCTCA	0.632												
ZNF423	23090	broad.mit.edu	37	16	49671711	49671711	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr16:49671711G>T	uc002efs.2	-	5	1650	c.1352C>A	c.(1351-1353)CCC>CAC	p.P451H	ZNF423_uc010vgn.1_Missense_Mutation_p.P334H	NM_015069	NP_055884	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	451	C2H2-type 10.				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)				GTAGAGGGTGGGCATGGAGTC	0.562												
ADCY7	113	broad.mit.edu	37	16	50332842	50332842	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr16:50332842C>A	uc002egd.1	+	7	1244	c.976C>A	c.(976-978)CTC>ATC	p.L326I	ADCY7_uc002egb.1_Missense_Mutation_p.L326I|ADCY7_uc002egc.1_Missense_Mutation_p.L326I	NM_001114	NP_001105	P51828	ADCY7_HUMAN	adenylate cyclase 7	326	Cytoplasmic (Potential).|Guanylate cyclase 1.				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to ethanol|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|positive regulation of cAMP biosynthetic process|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			skin(1)	1		all_cancers(37;0.0127)		GBM - Glioblastoma multiforme(240;0.195)	Bromocriptine(DB01200)	AATCAAGATCCTCGGCGACTG	0.637												
SALL1	6299	broad.mit.edu	37	16	51174686	51174686	+	Missense_Mutation	SNP	C	C	T	rs148915594		TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr16:51174686C>T	uc010vgs.1	-	2	1478	c.1447G>A	c.(1447-1449)GGG>AGG	p.G483R	SALL1_uc010vgr.1_Missense_Mutation_p.G386R|SALL1_uc010cbv.2_Intron	NM_002968	NP_002959	Q9NSC2	SALL1_HUMAN	sal-like 1 isoform a	483	C2H2-type 2.				adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			skin(5)|ovary(3)	8		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			AACCTGTTCCCGCAGATGTTG	0.527												
MMP2	4313	broad.mit.edu	37	16	55519218	55519218	+	Silent	SNP	C	C	T	rs151071926		TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr16:55519218C>T	uc002ehz.3	+	4	848	c.537C>T	c.(535-537)GGC>GGT	p.G179G	MMP2_uc010vhd.1_Silent_p.G103G|MMP2_uc010ccc.2_Silent_p.G129G	NM_004530	NP_004521	P08253	MMP2_HUMAN	matrix metalloproteinase 2 isoform a	179	Collagenase-like 1.				angiogenesis|collagen catabolic process|proteolysis	extracellular space|membrane|nucleus|proteinaceous extracellular matrix	metalloendopeptidase activity|protein binding|zinc ion binding			large_intestine(3)|ovary(3)|lung(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)	11		Renal(780;0.00183)|Breast(268;0.00354)|Hepatocellular(780;0.00826)|all_neural(199;0.0189)		UCEC - Uterine corpus endometrioid carcinoma (183;0.0185)|all cancers(182;7.16e-45)|Epithelial(162;5.26e-37)|GBM - Glioblastoma multiforme(240;9e-08)|Kidney(780;0.00227)|BRCA - Breast invasive adenocarcinoma(181;0.00786)	Marimastat(DB00786)|Sulindac(DB00605)	CAGAGCATGGCGATGGATACC	0.567												
MMP2	4313	broad.mit.edu	37	16	55525756	55525756	+	Silent	SNP	C	C	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr16:55525756C>T	uc002ehz.3	+	8	1535	c.1224C>T	c.(1222-1224)GCC>GCT	p.A408A	MMP2_uc010vhd.1_Silent_p.A332A|MMP2_uc010ccc.2_Silent_p.A358A|MMP2_uc002eia.3_5'Flank	NM_004530	NP_004521	P08253	MMP2_HUMAN	matrix metalloproteinase 2 isoform a	408	Collagenase-like 2.				angiogenesis|collagen catabolic process|proteolysis	extracellular space|membrane|nucleus|proteinaceous extracellular matrix	metalloendopeptidase activity|protein binding|zinc ion binding			large_intestine(3)|ovary(3)|lung(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)	11		Renal(780;0.00183)|Breast(268;0.00354)|Hepatocellular(780;0.00826)|all_neural(199;0.0189)		UCEC - Uterine corpus endometrioid carcinoma (183;0.0185)|all cancers(182;7.16e-45)|Epithelial(162;5.26e-37)|GBM - Glioblastoma multiforme(240;9e-08)|Kidney(780;0.00227)|BRCA - Breast invasive adenocarcinoma(181;0.00786)	Marimastat(DB00786)|Sulindac(DB00605)	TTGGCCACGCCATGGGGCTGG	0.577												
CETP	1071	broad.mit.edu	37	16	57016121	57016121	+	Silent	SNP	C	C	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr16:57016121C>T	uc002eki.2	+	14	1350	c.1293C>T	c.(1291-1293)ACC>ACT	p.T431T	CETP_uc002ekj.2_Silent_p.T371T	NM_000078	NP_000069	P11597	CETP_HUMAN	cholesteryl ester transfer protein, plasma	431					cholesterol homeostasis|cholesterol metabolic process|high-density lipoprotein particle remodeling|lipoprotein metabolic process|low-density lipoprotein particle remodeling|phosphatidylcholine metabolic process|phospholipid homeostasis|receptor-mediated endocytosis|regulation of cholesterol efflux|triglyceride homeostasis|triglyceride metabolic process|very-low-density lipoprotein particle remodeling	high-density lipoprotein particle|vesicle	cholesterol binding|cholesterol transporter activity|phosphatidylcholine binding|phospholipid transporter activity|triglyceride binding			central_nervous_system(1)|skin(1)	2						CAATGATCACCGCTGTGGGCA	0.582												
NLRC5	84166	broad.mit.edu	37	16	57092035	57092035	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr16:57092035C>T	uc002ekk.1	+	28	4030	c.3805C>T	c.(3805-3807)CAG>TAG	p.Q1269*	NLRC5_uc002ekn.2_Intron|NLRC5_uc002ekl.2_Nonsense_Mutation_p.Q1073*|NLRC5_uc002ekm.2_Nonsense_Mutation_p.Q1043*|NLRC5_uc010ccr.1_RNA|NLRC5_uc010ccs.1_RNA|NLRC5_uc002eko.1_RNA|NLRC5_uc002ekp.1_Nonsense_Mutation_p.Q184*|NLRC5_uc002ekq.1_5'UTR|NLRC5_uc002ekr.1_Nonsense_Mutation_p.Q156*	NM_032206	NP_115582	Q86WI3	NLRC5_HUMAN	nucleotide-binding oligomerization domains 27	1269					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)				ATGTCTGCCGCAGGTGCCCAT	0.577												
CCDC113	29070	broad.mit.edu	37	16	58288046	58288046	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr16:58288046G>A	uc002ene.2	+	3	452	c.373G>A	c.(373-375)GAC>AAC	p.D125N	CCDC113_uc010vid.1_Intron	NM_014157	NP_054876	Q9H0I3	CC113_HUMAN	coiled-coil domain containing 113 isoform 1	125	Potential.					protein complex					0						TGCGGAACGCGACCTGCAGCA	0.562												
GOT2	2806	broad.mit.edu	37	16	58757658	58757658	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr16:58757658C>T	uc002eof.1	-	2	352	c.238G>A	c.(238-240)GTC>ATC	p.V80I	GOT2_uc010vim.1_Missense_Mutation_p.V80I	NM_002080	NP_002071	P00505	AATM_HUMAN	aspartate aminotransferase 2 precursor	80					aspartate catabolic process|fatty acid transport|gluconeogenesis|response to ethanol	mitochondrial matrix|plasma membrane	L-aspartate:2-oxoglutarate aminotransferase activity|protein binding|pyridoxal phosphate binding			central_nervous_system(1)|skin(1)	2					L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	ACCTTGCGGACGCTAGGCAGA	0.378												
PLEKHG4	25894	broad.mit.edu	37	16	67319435	67319435	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr16:67319435G>A	uc002eso.3	+	13	4973	c.2438G>A	c.(2437-2439)CGC>CAC	p.R813H	PLEKHG4_uc002esp.3_Missense_Mutation_p.R620H|PLEKHG4_uc002esq.3_Missense_Mutation_p.R813H|PLEKHG4_uc010cef.2_Missense_Mutation_p.R813H|PLEKHG4_uc002ess.3_Missense_Mutation_p.R813H|PLEKHG4_uc010ceg.2_Missense_Mutation_p.R732H	NM_015432	NP_056247	Q58EX7	PKHG4_HUMAN	pleckstrin homology domain containing, family G	813	DH.				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)		GCCTTCCTGCGCCATGTAAGC	0.493												
LRRC36	55282	broad.mit.edu	37	16	67412553	67412553	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr16:67412553T>A	uc002esv.2	+	12	1887	c.1868T>A	c.(1867-1869)ATT>AAT	p.I623N	LRRC36_uc002esw.2_RNA|LRRC36_uc002esx.2_Missense_Mutation_p.I502N|LRRC36_uc010vjk.1_Missense_Mutation_p.I398N|LRRC36_uc010vjl.1_Missense_Mutation_p.I95N|LRRC36_uc002esy.2_Missense_Mutation_p.I133N	NM_018296	NP_060766	Q1X8D7	LRC36_HUMAN	leucine rich repeat containing 36 isoform 1	623	Potential.										0		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0669)|Epithelial(162;0.161)		TCAGAAAAAATTCAACAGTTG	0.378												
EDC4	23644	broad.mit.edu	37	16	67909972	67909972	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr16:67909972G>A	uc002eur.2	+	2	373	c.207G>A	c.(205-207)ATG>ATA	p.M69I	EDC4_uc010cer.2_5'UTR|EDC4_uc010vkg.1_Missense_Mutation_p.M1I|EDC4_uc010ces.1_5'Flank|EDC4_uc002eus.2_5'Flank	NM_014329	NP_055144	Q6P2E9	EDC4_HUMAN	autoantigen RCD8	69					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding			ovary(2)|central_nervous_system(2)	4		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)		TTCGGACCATGCCACCCATTA	0.522												
PDPR	55066	broad.mit.edu	37	16	70154529	70154529	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr16:70154529T>A	uc002eyf.1	+	3	1091	c.134T>A	c.(133-135)GTG>GAG	p.V45E	CLEC18C_uc002exy.2_Intron|PDPR_uc010vlr.1_Intron	NM_017990	NP_060460	Q8NCN5	PDPR_HUMAN	pyruvate dehydrogenase phosphatase regulatory	45					glycine catabolic process|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	aminomethyltransferase activity|oxidoreductase activity			breast(1)	1				BRCA - Breast invasive adenocarcinoma(221;0.124)		CAGGCACAGGTGGTCATCTGT	0.577												
DDX19B	11269	broad.mit.edu	37	16	70363885	70363885	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr16:70363885C>A	uc002eyo.2	+	9	1066	c.937C>A	c.(937-939)CTG>ATG	p.L313M	DDX19B_uc010vly.1_Missense_Mutation_p.L313M|DDX19A_uc002eys.2_Intron|DDX19B_uc010vlv.1_Missense_Mutation_p.L287M|DDX19B_uc010vlw.1_Missense_Mutation_p.L204M|DDX19B_uc002eyp.2_Missense_Mutation_p.L282M|DDX19B_uc002eyq.2_Missense_Mutation_p.L204M|DDX19B_uc002eyr.2_Missense_Mutation_p.L162M|DDX19B_uc010vlx.1_Missense_Mutation_p.L162M|uc002eyt.2_Intron	NM_007242	NP_009173	Q9UMR2	DD19B_HUMAN	DEAD (Asp-Glu-Ala-As) box polypeptide 19 isoform	313	Helicase C-terminal.				mRNA export from nucleus|protein transport|transmembrane transport	cytoplasm|nuclear membrane|nuclear pore	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding			kidney(1)	1		Ovarian(137;0.0694)				GTACTATGTCCTGTGCAGCAG	0.522												
MARVELD3	91862	broad.mit.edu	37	16	71674764	71674764	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr16:71674764C>T	uc002fau.2	+	3	1130	c.1067C>T	c.(1066-1068)ACC>ATC	p.T356I	PHLPP2_uc002fav.2_RNA|MARVELD3_uc010cge.2_3'UTR	NM_001017967	NP_001017967	Q96A59	MALD3_HUMAN	MARVEL domain containing 3 isoform 1	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment						integral to membrane				skin(1)	1		Ovarian(137;0.125)				CTGGCAGGCACCGACGGAGCA	0.582												
DHX38	9785	broad.mit.edu	37	16	72138432	72138432	+	Silent	SNP	G	G	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr16:72138432G>A	uc002fcb.2	+	15	2413	c.2058G>A	c.(2056-2058)ACG>ACA	p.T686T	DHX38_uc010vmp.1_Intron	NM_014003	NP_054722	Q92620	PRP16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 38	686	Helicase ATP-binding.				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)				CATCAGCCACGATGGATGCGG	0.572												
ZFHX3	463	broad.mit.edu	37	16	72831435	72831435	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr16:72831435C>T	uc002fck.2	-	9	5819	c.5146G>A	c.(5146-5148)GCA>ACA	p.A1716T	ZFHX3_uc002fcl.2_Missense_Mutation_p.A802T	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3 isoform A	1716					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			ovary(2)|skin(2)	4		Ovarian(137;0.13)				ATCATATCTGCCAGTTTCTTC	0.403												
ZFHX3	463	broad.mit.edu	37	16	72993844	72993844	+	Silent	SNP	C	C	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr16:72993844C>T	uc002fck.2	-	2	874	c.201G>A	c.(199-201)TCG>TCA	p.S67S	ZFHX3_uc002fcl.2_Intron	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3 isoform A	67					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			ovary(2)|skin(2)	4		Ovarian(137;0.13)				GGGGCCCGGCCGACGCGGTGC	0.667												
TERF2IP	54386	broad.mit.edu	37	16	75690483	75690483	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr16:75690483C>T	uc002fet.1	+	3	1271	c.1174C>T	c.(1174-1176)CGG>TGG	p.R392W		NM_018975	NP_061848	Q9NYB0	TE2IP_HUMAN	telomeric repeat binding factor 2, interacting	392	Nuclear localization signal (Potential).				negative regulation of DNA recombination at telomere|negative regulation of telomere maintenance|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|regulation of double-strand break repair via homologous recombination|telomere maintenance via telomerase|transcription, DNA-dependent	cytoplasm|nuclear telomere cap complex|nucleoplasm	DNA binding|protein binding			central_nervous_system(1)	1						GAATGTAGCTCGGAGGATTGA	0.363												
PKD1L2	114780	broad.mit.edu	37	16	81171067	81171067	+	Silent	SNP	C	C	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr16:81171067C>T	uc002fgh.1	-	34	5694	c.5694G>A	c.(5692-5694)CCG>CCA	p.P1898P	PKD1L2_uc002fgf.1_5'Flank|PKD1L2_uc002fgg.1_RNA	NM_052892	NP_443124	Q7Z442	PK1L2_HUMAN	polycystin 1-like 2 isoform a	1898	Cytoplasmic (Potential).				neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			ovary(1)|central_nervous_system(1)|pancreas(1)	3						GTCCTGGCAGCGGGGCCACAG	0.597												
CDH13	1012	broad.mit.edu	37	16	83159089	83159089	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr16:83159089C>T	uc002fgx.2	+	4	586	c.466C>T	c.(466-468)CCA>TCA	p.P156S	CDH13_uc010chh.2_Missense_Mutation_p.P156S|CDH13_uc010vns.1_Missense_Mutation_p.P203S|CDH13_uc010vnt.1_5'UTR|CDH13_uc010vnu.1_Intron	NM_001257	NP_001248	P55290	CAD13_HUMAN	cadherin 13 preproprotein	156	Cadherin 1.				adherens junction organization|calcium-dependent cell-cell adhesion|cell junction assembly|endothelial cell migration|homophilic cell adhesion|keratinocyte proliferation|lamellipodium assembly|localization within membrane|low-density lipoprotein particle mediated signaling|negative regulation of cell adhesion|negative regulation of cell proliferation|positive regulation of calcium-mediated signaling|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of endothelial cell proliferation|positive regulation of positive chemotaxis|positive regulation of smooth muscle cell proliferation|positive regulation of survival gene product expression|Rac protein signal transduction|regulation of endocytosis|regulation of epidermal growth factor receptor signaling pathway|Rho protein signal transduction|sprouting angiogenesis	anchored to membrane|caveola|extracellular space|integral to membrane|neuron projection	adiponectin binding|cadherin binding|calcium ion binding|low-density lipoprotein particle binding			large_intestine(1)	1		all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09)		COAD - Colon adenocarcinoma(5;0.0268)		ACAGCCTTTCCCAAGAGATGT	0.393												
COTL1	23406	broad.mit.edu	37	16	84623721	84623721	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr16:84623721T>C	uc002fid.2	-	3	457	c.308A>G	c.(307-309)GAG>GGG	p.E103G	COTL1_uc002fie.2_Intron|COTL1_uc010chk.2_RNA	NM_021149	NP_066972	Q14019	COTL1_HUMAN	coactosin-like 1	103	ADF-H.					cytoplasm|cytoskeleton	actin binding|enzyme binding			skin(1)	1						CTGTACGACCTCCTTCACCAG	0.532												
CRISPLD2	83716	broad.mit.edu	37	16	84906600	84906600	+	Silent	SNP	G	G	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr16:84906600G>A	uc010voh.1	+	10	1211	c.984G>A	c.(982-984)TCG>TCA	p.S328S	CRISPLD2_uc010vog.1_Intron|CRISPLD2_uc002fio.2_Silent_p.S327S|CRISPLD2_uc002fim.2_Silent_p.S328S|CRISPLD2_uc002fin.3_Silent_p.S328S	NM_031476	NP_113664	Q9H0B8	CRLD2_HUMAN	cysteine-rich secretory protein LCCL domain	328	LCCL 1.					extracellular region|transport vesicle					0						CCCGCCAGTCGTCTAGCATAT	0.527												
COX4I1	1327	broad.mit.edu	37	16	85834824	85834824	+	Silent	SNP	A	A	C			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr16:85834824A>C	uc002fje.2	+	2	177	c.13A>C	c.(13-15)AGG>CGG	p.R5R	COX4NB_uc002fjd.2_5'Flank|COX4NB_uc010vol.1_5'Flank|COX4I1_uc002fjf.2_Silent_p.R5R|COX4I1_uc002fjg.1_Silent_p.R5R|COX4I1_uc010vom.1_5'UTR	NM_001861	NP_001852	P13073	COX41_HUMAN	cytochrome c oxidase subunit IV isoform 1	5					respiratory electron transport chain	mitochondrial inner membrane|nucleus	cytochrome-c oxidase activity|protein binding			lung(1)	1		Renal(780;0.228)				GTTGGCTACCAGGGTATTTAG	0.393												
TRAPPC2L	51693	broad.mit.edu	37	16	88925094	88925094	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr16:88925094C>T	uc002fmc.2	+	2	154	c.101C>T	c.(100-102)ACA>ATA	p.T34I	GALNS_uc002fly.3_5'Flank|GALNS_uc010cid.2_5'Flank|GALNS_uc002flz.3_5'Flank|GALNS_uc002fma.2_5'Flank|TRAPPC2L_uc010cie.2_RNA|TRAPPC2L_uc002fmd.3_Missense_Mutation_p.T34I|TRAPPC2L_uc002fme.3_Missense_Mutation_p.T34I|TRAPPC2L_uc002fmf.2_5'Flank|uc002fmg.2_5'Flank	NM_016209	NP_057293	Q9UL33	TPC2L_HUMAN	trafficking protein particle complex 2-like	34					ER to Golgi vesicle-mediated transport	endoplasmic reticulum|Golgi apparatus|perinuclear region of cytoplasm					0				BRCA - Breast invasive adenocarcinoma(80;0.0477)		ATGGTGCACACATCTCTGGAC	0.567												
FAM101B	359845	broad.mit.edu	37	17	293243	293243	+	Silent	SNP	G	G	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr17:293243G>A	uc002frj.2	-	2	421	c.147C>T	c.(145-147)ATC>ATT	p.I49I		NM_182705	NP_874364	Q8N5W9	F101B_HUMAN	hypothetical protein LOC359845	119											0		Myeloproliferative disorder(207;0.204)		UCEC - Uterine corpus endometrioid carcinoma (25;0.0216)		GCACGTCGTCGATGAAGTGCC	0.662												
SGSM2	9905	broad.mit.edu	37	17	2279115	2279115	+	Silent	SNP	C	C	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr17:2279115C>T	uc002fun.3	+	17	2470	c.2295C>T	c.(2293-2295)GCC>GCT	p.A765A	SGSM2_uc002fum.3_Silent_p.A810A|SGSM2_uc010vqw.1_Silent_p.A765A|SGSM2_uc002fup.1_5'UTR|SGSM2_uc002fuq.2_5'Flank	NM_001098509	NP_001091979	O43147	SGSM2_HUMAN	RUN and TBC1 domain containing 1 isoform 2	765	Rab-GAP TBC.					intracellular	Rab GTPase activator activity				0				Colorectal(2;5.15e-05)|READ - Rectum adenocarcinoma(2;0.000115)		AGCCTCAGGCCGGAGAACTGG	0.677												
RAP1GAP2	23108	broad.mit.edu	37	17	2901577	2901577	+	Silent	SNP	G	G	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr17:2901577G>A	uc010ckd.2	+	14	1197	c.1107G>A	c.(1105-1107)ACG>ACA	p.T369T	RAP1GAP2_uc010cke.2_Silent_p.T354T	NM_015085	NP_055900	Q684P5	RPGP2_HUMAN	RAP1 GTPase activating protein 2 isoform 1	369	Rap-GAP.				regulation of small GTPase mediated signal transduction	centrosome|cytosol|perinuclear region of cytoplasm	GTPase activator activity			ovary(1)	1						AGGAAAACACGCCGTTTGTCC	0.473												
MYBBP1A	10514	broad.mit.edu	37	17	4442989	4442989	+	Silent	SNP	G	G	A	rs138002559	byFrequency	TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr17:4442989G>A	uc002fyb.3	-	26	3770	c.3708C>T	c.(3706-3708)GGC>GGT	p.G1236G	MYBBP1A_uc002fxz.3_Silent_p.G1236G|SPNS2_uc002fxx.2_3'UTR|SPNS2_uc002fxy.2_3'UTR|MYBBP1A_uc002fya.3_Silent_p.G181G|MYBBP1A_uc010vsa.1_Silent_p.G278G	NM_014520	NP_055335	Q9BQG0	MBB1A_HUMAN	MYB binding protein 1a isoform 2	1236	Required for nuclear and nucleolar localization (By similarity).				nucleocytoplasmic transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NLS-dependent protein nuclear import complex|nucleolus	DNA binding|DNA-directed DNA polymerase activity|transcription factor binding			ovary(1)|skin(1)	2						GGGTGGGGGCGCCAGGGGCTG	0.647												
MYH2	4620	broad.mit.edu	37	17	10447054	10447054	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr17:10447054C>T	uc010coi.2	-	8	843	c.715G>A	c.(715-717)GTG>ATG	p.V239M	uc002gml.1_Intron|MYH2_uc002gmp.3_Missense_Mutation_p.V239M|MYH2_uc010coj.2_Missense_Mutation_p.V239M	NM_001100112	NP_001093582	Q9UKX2	MYH2_HUMAN	myosin heavy chain IIa	239	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			ovary(5)|pancreas(4)|skin(3)|lung(1)|kidney(1)	14						TCATTCCTCACGGTCTTGGCG	0.478												
DNAH9	1770	broad.mit.edu	37	17	11837339	11837339	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr17:11837339C>T	uc002gne.2	+	65	12508	c.12440C>T	c.(12439-12441)GCC>GTC	p.A4147V	DNAH9_uc010coo.2_Missense_Mutation_p.A3365V|DNAH9_uc002gnf.2_Missense_Mutation_p.A459V	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9 isoform 2	4147					cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1)	20		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		CTGTCTTTGGCCCCAGGGTTC	0.517												
MYO15A	51168	broad.mit.edu	37	17	18023246	18023246	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr17:18023246G>A	uc010vxh.1	+	2	1470	c.1132G>A	c.(1132-1134)GTC>ATC	p.V378I		NM_016239	NP_057323	Q9UKN7	MYO15_HUMAN	myosin XV	378	Myosin head-like.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			skin(4)|ovary(2)|pancreas(1)|breast(1)|central_nervous_system(1)	9	all_neural(463;0.228)					CCACTACACCGTCCCCTATGC	0.597												
FLII	2314	broad.mit.edu	37	17	18151293	18151293	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr17:18151293C>T	uc002gsr.1	-	19	2296	c.2245G>A	c.(2245-2247)GTG>ATG	p.V749M	FLII_uc002gsq.1_Missense_Mutation_p.V620M|FLII_uc010cpy.1_Missense_Mutation_p.V738M|FLII_uc010vxn.1_Missense_Mutation_p.V718M|FLII_uc010vxo.1_Missense_Mutation_p.V694M|FLII_uc002gss.1_Missense_Mutation_p.V748M	NM_002018	NP_002009	Q13045	FLII_HUMAN	flightless I homolog	749	Interaction with ACTL6A.				multicellular organismal development|muscle contraction|regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleus	actin binding			central_nervous_system(1)|skin(1)	2	all_neural(463;0.228)					TTATGTTCCACGGAGAGCTTG	0.607											OREG0024225	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
ALDH3A1	218	broad.mit.edu	37	17	19642929	19642929	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr17:19642929G>T	uc010cqu.2	-	7	1338	c.1008C>A	c.(1006-1008)TTC>TTA	p.F336L	ALDH3A1_uc010vzd.1_Missense_Mutation_p.F336L|ALDH3A1_uc002gwj.2_Missense_Mutation_p.F336L|ALDH3A1_uc010cqv.2_Missense_Mutation_p.F335L|ALDH3A1_uc002gwk.2_Missense_Mutation_p.F453L|ALDH3A1_uc002gwl.1_Missense_Mutation_p.F263L	NM_001135168	NP_001128640	P30838	AL3A1_HUMAN	aldehyde dehydrogenase 3A1	336					cellular aldehyde metabolic process	cytosol|endoplasmic reticulum	alcohol dehydrogenase (NADP+) activity|aldehyde dehydrogenase (NAD) activity|aldehyde dehydrogenase			ovary(1)|pancreas(1)	2	all_cancers(12;4.01e-05)|all_epithelial(12;0.00301)|Breast(13;0.186)			Colorectal(15;0.0829)	NADH(DB00157)	GCACAGGCCCGAAGATCTCCT	0.632												
ALDH3A1	218	broad.mit.edu	37	17	19646727	19646727	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr17:19646727A>G	uc010cqu.2	-	2	542	c.212T>C	c.(211-213)ATC>ACC	p.I71T	ALDH3A1_uc010vzd.1_Missense_Mutation_p.I71T|ALDH3A1_uc002gwj.2_Missense_Mutation_p.I71T|ALDH3A1_uc010cqv.2_Missense_Mutation_p.I71T|ALDH3A1_uc002gwk.2_5'UTR|ALDH3A1_uc002gwl.1_5'UTR	NM_001135168	NP_001128640	P30838	AL3A1_HUMAN	aldehyde dehydrogenase 3A1	71					cellular aldehyde metabolic process	cytosol|endoplasmic reticulum	alcohol dehydrogenase (NADP+) activity|aldehyde dehydrogenase (NAD) activity|aldehyde dehydrogenase			ovary(1)|pancreas(1)	2	all_cancers(12;4.01e-05)|all_epithelial(12;0.00301)|Breast(13;0.186)			Colorectal(15;0.0829)	NADH(DB00157)	CATGTACTCGATCTCCTCTAG	0.612												
AKAP10	11216	broad.mit.edu	37	17	19823397	19823397	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr17:19823397G>A	uc002gwo.2	-	12	1923	c.1786C>T	c.(1786-1788)CAA>TAA	p.Q596*	AKAP10_uc002gwp.1_Nonsense_Mutation_p.Q596*|AKAP10_uc010cqw.1_Nonsense_Mutation_p.Q538*	NM_007202	NP_009133	O43572	AKA10_HUMAN	A-kinase anchor protein 10 precursor	596					blood coagulation|protein localization	cytosol|mitochondrion|plasma membrane	signal transducer activity			skin(1)	1	all_cancers(12;2.08e-05)|all_epithelial(12;0.00158)|Breast(13;0.165)					CGGATGAATTGCCCCAAGTCA	0.343												
GIT1	28964	broad.mit.edu	37	17	27901773	27901773	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr17:27901773C>T	uc002hef.2	-	20	2447	c.2233G>A	c.(2233-2235)GCC>ACC	p.A745T	GIT1_uc002heg.2_Missense_Mutation_p.A754T|GIT1_uc010wbg.1_Missense_Mutation_p.A731T|GIT1_uc010csb.1_3'UTR	NM_014030	NP_054749	Q9Y2X7	GIT1_HUMAN	G protein-coupled receptor kinase interactor 1	745	Interaction with PXN and TGFB1I1 (By similarity).				regulation of ARF GTPase activity|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|focal adhesion	ARF GTPase activator activity|protein binding|zinc ion binding				0				READ - Rectum adenocarcinoma(3;0.0419)|Colorectal(3;0.069)		GCAGCCTTGGCGATGTCATAG	0.627												
SLFN5	162394	broad.mit.edu	37	17	33591816	33591816	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr17:33591816A>C	uc002hjf.3	+	4	1870	c.1753A>C	c.(1753-1755)ACT>CCT	p.T585P	SLFN5_uc010wcg.1_Intron	NM_144975	NP_659412	Q08AF3	SLFN5_HUMAN	schlafen family member 5	585	ATP (Potential).				cell differentiation		ATP binding			ovary(1)|central_nervous_system(1)|skin(1)	3		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0191)		ATCAGGGAAGACTATCTTGGC	0.428												
GAS2L2	246176	broad.mit.edu	37	17	34072681	34072681	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr17:34072681A>G	uc002hjv.1	-	6	1863	c.1835T>C	c.(1834-1836)ATG>ACG	p.M612T		NM_139285	NP_644814	Q8NHY3	GA2L2_HUMAN	growth arrest-specific 2 like 2	612					cell cycle arrest	cytoplasm|cytoskeleton				ovary(1)|skin(1)	2		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		TAGCAGCTTCATGTTGCCCAA	0.607												
KRTAP1-5	83895	broad.mit.edu	37	17	39182975	39182975	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr17:39182975G>T	uc002hvu.2	-	1	480	c.433C>A	c.(433-435)CAA>AAA	p.Q145K		NM_031957	NP_114163	Q9BYS1	KRA15_HUMAN	keratin associated protein 1.5	145	15 X 5 AA repeats of C-C-[QEPVRC]- [TPIVLE]-[SRHVP].					keratin filament					0		Breast(137;0.00043)	STAD - Stomach adenocarcinoma(17;0.000371)			TGGTGCAGTTGGCAGCAGGAT	0.652												
STAT5B	6777	broad.mit.edu	37	17	40359649	40359649	+	Silent	SNP	G	G	A	rs147503881		TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr17:40359649G>A	uc002hzh.2	-	16	2173	c.2004C>T	c.(2002-2004)TAC>TAT	p.Y668Y		NM_012448	NP_036580	P51692	STA5B_HUMAN	signal transducer and activator of transcription	668	SH2.				2-oxoglutarate metabolic process|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|fatty acid metabolic process|isoleucine metabolic process|JAK-STAT cascade involved in growth hormone signaling pathway|oxaloacetate metabolic process|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process	cytosol|nucleoplasm	calcium ion binding|glucocorticoid receptor binding|sequence-specific DNA binding transcription factor activity			ovary(3)|lung(2)|skin(1)	6		all_cancers(22;4.15e-07)|all_epithelial(22;2.83e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.135)	Dasatinib(DB01254)	CAGGAAACACGTAGATAAGGT	0.443												
ITGA2B	3674	broad.mit.edu	37	17	42457968	42457968	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr17:42457968C>A	uc002igt.1	-	14	1471	c.1439G>T	c.(1438-1440)AGA>ATA	p.R480I	ITGA2B_uc002igu.1_5'UTR	NM_000419	NP_000410	P08514	ITA2B_HUMAN	integrin alpha 2b preproprotein	480	Extracellular (Potential).|FG-GAP 7.				axon guidance|integrin-mediated signaling pathway|platelet activation|platelet degranulation	integrin complex|platelet alpha granule membrane	identical protein binding|receptor activity			ovary(2)|lung(1)	3		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.191)	Tirofiban(DB00775)	CAGTGCTCACCTGTACACAGC	0.592												
EFTUD2	9343	broad.mit.edu	37	17	42942391	42942391	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr17:42942391C>T	uc002ihn.2	-	14	1453	c.1192G>A	c.(1192-1194)GAG>AAG	p.E398K	EFTUD2_uc010wje.1_Missense_Mutation_p.E363K|EFTUD2_uc010wjf.1_Missense_Mutation_p.E388K	NM_004247	NP_004238	Q15029	U5S1_HUMAN	elongation factor Tu GTP binding domain	398						Cajal body|catalytic step 2 spliceosome|cytoplasm|nuclear speck	GTP binding|GTPase activity|protein binding			ovary(1)	1		Prostate(33;0.109)				ATGCCAAGCTCGTCTAGGGTC	0.547											OREG0024466	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
NMT1	4836	broad.mit.edu	37	17	43182260	43182260	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr17:43182260A>G	uc002ihz.2	+	11	1384	c.1366A>G	c.(1366-1368)ATG>GTG	p.M456V	NMT1_uc002iia.2_RNA	NM_021079	NP_066565	P30419	NMT1_HUMAN	N-myristoyltransferase 1	456					activation of pro-apoptotic gene products|induction of apoptosis by intracellular signals|N-terminal protein myristoylation|protein lipoylation	actin cytoskeleton|cell junction|cytosol	glycylpeptide N-tetradecanoyltransferase activity				0		Prostate(33;0.155)				ACTGGATCTCATGGAGAACAA	0.507												
LRRC37A2	474170	broad.mit.edu	37	17	44626102	44626102	+	Silent	SNP	C	C	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr17:44626102C>T	uc002ikn.1	+	9	3600	c.3597C>T	c.(3595-3597)AAC>AAT	p.N1199N	ARL17A_uc002iko.3_Intron|LRRC37A2_uc002ikq.1_Silent_p.N160N|LRRC37A2_uc010dax.1_Silent_p.N129N	NM_001006607	NP_001006608	A6NM11	L37A2_HUMAN	c114 SLIT-like testicular protein precursor	1199	Extracellular (Potential).					integral to membrane					0		Melanoma(429;0.211)		BRCA - Breast invasive adenocarcinoma(366;0.232)		CTGTGGAGAACGCTGCCGAAG	0.587												
HLF	3131	broad.mit.edu	37	17	53392780	53392780	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr17:53392780G>A	uc002iug.1	+	3	1169	c.644G>A	c.(643-645)CGC>CAC	p.R215H	HLF_uc010dce.1_Missense_Mutation_p.R130H|HLF_uc002iuh.2_Missense_Mutation_p.R130H|HLF_uc010wni.1_Missense_Mutation_p.R162H	NM_002126	NP_002117	Q16534	HLF_HUMAN	hepatic leukemia factor	215					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			ovary(2)	2						AAGAAAGCTCGCAAAGTCTTC	0.488			T	TCF3	ALL							
TRIM25	7706	broad.mit.edu	37	17	54981777	54981777	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr17:54981777C>A	uc002iut.2	-	3	826	c.766G>T	c.(766-768)GAG>TAG	p.E256*	TRIM25_uc010dcj.2_Nonsense_Mutation_p.E48*	NM_005082	NP_005073	Q14258	TRI25_HUMAN	tripartite motif-containing 25	256	Interaction with influenza A virus NS1.|Potential.				innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|response to virus	cell junction|cytosol|nucleus	sequence-specific DNA binding transcription factor activity|ubiquitin-protein ligase activity|zinc ion binding			lung(1)|breast(1)|skin(1)	3	Breast(9;6.15e-08)					GAGGTGGTCTCTGAGGCGTCC	0.463												
MSI2	124540	broad.mit.edu	37	17	55752431	55752431	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr17:55752431A>G	uc002iuz.1	+	12	1062	c.889A>G	c.(889-891)AAT>GAT	p.N297D	MSI2_uc010wnm.1_Missense_Mutation_p.N293D	NM_138962	NP_620412	Q96DH6	MSI2H_HUMAN	musashi 2 isoform a	297						cytoplasm	nucleotide binding|RNA binding			central_nervous_system(1)|pancreas(1)	2	Breast(9;1.78e-08)			GBM - Glioblastoma multiforme(1;0.0025)		CGGAGTGGGGAATTACATAAG	0.682			T	HOXA9	CML							
DDX42	11325	broad.mit.edu	37	17	61895288	61895288	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr17:61895288G>A	uc002jbu.2	+	19	2604	c.2347G>A	c.(2347-2349)GGA>AGA	p.G783R	DDX42_uc002jbv.2_Missense_Mutation_p.G783R|DDX42_uc002jbx.2_Missense_Mutation_p.G519R|DDX42_uc002jby.2_Missense_Mutation_p.G329R|DDX42_uc010wps.1_Missense_Mutation_p.G151R	NM_007372	NP_031398	Q86XP3	DDX42_HUMAN	DEAD box polypeptide 42 protein	783	Gly-rich.|Necessary for interaction with TP53BP2.				protein localization|regulation of anti-apoptosis	Cajal body|cytoplasm|nuclear speck	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding			ovary(2)|skin(2)|large_intestine(1)	5						CCCGTCTGCCGGAGCCCAAGG	0.582												
SCN4A	6329	broad.mit.edu	37	17	62020337	62020337	+	Silent	SNP	C	C	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr17:62020337C>T	uc002jds.1	-	23	4214	c.4137G>A	c.(4135-4137)CAG>CAA	p.Q1379Q		NM_000334	NP_000325	P35499	SCN4A_HUMAN	voltage-gated sodium channel type 4 alpha	1379	IV.				muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(1)|pancreas(1)|skin(1)	3					Lamotrigine(DB00555)	CCACCTTGAGCTGGCTCTGGT	0.512												
ERN1	2081	broad.mit.edu	37	17	62141446	62141446	+	Silent	SNP	C	C	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr17:62141446C>T	uc002jdz.2	-	10	1100	c.987G>A	c.(985-987)AAG>AAA	p.K329K		NM_001433	NP_001424	O75460	ERN1_HUMAN	endoplasmic reticulum to nucleus signalling 1	329	Lumenal (Potential).				activation of signaling protein activity involved in unfolded protein response|apoptosis|cell cycle arrest|induction of apoptosis|mRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to endoplasmic reticulum membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(4)|lung(2)|stomach(1)|ovary(1)|kidney(1)	9						CACACTCCCCCTTGTCCCCAA	0.572											OREG0024657	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
AXIN2	8313	broad.mit.edu	37	17	63526100	63526100	+	Silent	SNP	G	G	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr17:63526100G>A	uc002jfi.2	-	11	2815	c.2526C>T	c.(2524-2526)ATC>ATT	p.I842I	AXIN2_uc002jfh.2_Silent_p.I777I	NM_004655	NP_004646	Q9Y2T1	AXIN2_HUMAN	axin 2	842	DIX.				cellular protein localization|cellular response to organic cyclic compound|dorsal/ventral axis specification|intramembranous ossification|maintenance of DNA repeat elements|mRNA stabilization|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of cell proliferation|negative regulation of osteoblast differentiation|odontogenesis|positive regulation of cell death|positive regulation of epithelial to mesenchymal transition|positive regulation of protein phosphorylation|regulation of centromeric sister chromatid cohesion|regulation of mismatch repair|Wnt receptor signaling pathway involved in somitogenesis	Axin-APC-beta-catenin-GSK3B complex|cell cortex|centrosome|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|nucleus|plasma membrane|postsynaptic density	armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding			central_nervous_system(1)|skin(1)	2						GGGCTCAATCGATCCGCTCCA	0.537									Oligodontia_Ectodermal_Dysplasia_and_Colorectal_Polyp_syndrome			
ABCA6	23460	broad.mit.edu	37	17	67125775	67125775	+	Silent	SNP	G	G	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr17:67125775G>A	uc002jhw.1	-	7	1084	c.909C>T	c.(907-909)CTC>CTT	p.L303L		NM_080284	NP_525023	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A, member 6	303	Helical; (Potential).				transport	integral to membrane	ATP binding|ATPase activity			upper_aerodigestive_tract(2)|large_intestine(2)|ovary(2)|skin(1)	7	Breast(10;5.65e-12)					ATAAAAAAAAGAGTATAAATA	0.303												
ABCA10	10349	broad.mit.edu	37	17	67178424	67178424	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr17:67178424C>A	uc010dfa.1	-	23	3518	c.2639G>T	c.(2638-2640)AGA>ATA	p.R880I	ABCA10_uc010wqt.1_RNA|ABCA10_uc010dfb.1_Missense_Mutation_p.R481I	NM_080282	NP_525021	Q8WWZ4	ABCAA_HUMAN	ATP-binding cassette, sub-family A, member 10	880					transport	integral to membrane	ATP binding|ATPase activity			ovary(2)|central_nervous_system(1)|skin(1)	4	Breast(10;6.95e-12)					AACAGAAAATCTGTAATCCTT	0.284												
ABCA10	10349	broad.mit.edu	37	17	67221504	67221504	+	Translation_Start_Site	SNP	C	C	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr17:67221504C>A	uc010dfa.1	-	4	875	c.-4G>T	c.(-6--2)AAGGA>AATGA		ABCA10_uc010wqt.1_RNA|ABCA10_uc010dfc.1_Translation_Start_Site	NM_080282	NP_525021	Q8WWZ4	ABCAA_HUMAN	ATP-binding cassette, sub-family A, member 10						transport	integral to membrane	ATP binding|ATPase activity			ovary(2)|central_nervous_system(1)|skin(1)	4	Breast(10;6.95e-12)					ATTCATTATCCTTTGTGTTAT	0.393												
KCNJ2	3759	broad.mit.edu	37	17	68171712	68171712	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr17:68171712G>T	uc010dfg.2	+	2	933	c.532G>T	c.(532-534)GCA>TCA	p.A178S	KCNJ2_uc002jir.2_Missense_Mutation_p.A178S	NM_000891	NP_000882	P63252	IRK2_HUMAN	potassium inwardly-rectifying channel J2	178	Helical; Name=M2; (By similarity).				synaptic transmission	integral to plasma membrane	inward rectifier potassium channel activity|protein binding				0	Breast(10;1.64e-08)					CATCATTGGCGCAGTCATGGC	0.478												
CD300LF	146722	broad.mit.edu	37	17	72700850	72700850	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr17:72700850A>G	uc002jlg.2	-	2	252	c.149T>C	c.(148-150)TTG>TCG	p.L50S	RAB37_uc002jlc.2_Intron|RAB37_uc010dfu.2_Intron|RAB37_uc002jld.2_Intron|CD300LF_uc002jlf.2_Missense_Mutation_p.L53S|CD300LF_uc010dfw.2_RNA|CD300LF_uc002jlh.2_Missense_Mutation_p.L50S|CD300LF_uc002jli.2_Missense_Mutation_p.L53S|CD300LF_uc010wra.1_Missense_Mutation_p.L50S|CD300LF_uc002jlj.1_Missense_Mutation_p.L53S	NM_139018	NP_620587	Q8TDQ1	CLM1_HUMAN	NK inhibitory receptor precursor	50	Ig-like V-type.|Extracellular (Potential).					integral to membrane|plasma membrane	receptor activity			upper_aerodigestive_tract(1)	1						CCACCACTTCAAGTAGGTCTC	0.532												
GRB2	2885	broad.mit.edu	37	17	73389634	73389634	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr17:73389634T>C	uc002jnx.3	-	2	433	c.76A>G	c.(76-78)AAG>GAG	p.K26E	GRB2_uc002jny.3_Missense_Mutation_p.K26E	NM_002086	NP_002077	P62993	GRB2_HUMAN	growth factor receptor-bound protein 2 isoform	26	SH3 1.				axon guidance|blood coagulation|cell junction assembly|cell-cell signaling|cellular response to ionizing radiation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of reactive oxygen species metabolic process|Ras protein signal transduction|receptor internalization|signal transduction in response to DNA damage|T cell costimulation	cytosol|Golgi apparatus	epidermal growth factor receptor binding|insulin receptor substrate binding|SH3/SH2 adaptor activity			ovary(3)	3	all_cancers(13;5.44e-09)|all_epithelial(9;1.1e-09)|Breast(9;1.85e-09)|all_lung(278;0.222)		all cancers(21;1.09e-07)|Epithelial(20;1.23e-06)|Lung(188;0.185)		Pegademase bovine(DB00061)	GCACTTACCTTGAGGATGTCC	0.507												
EVPL	2125	broad.mit.edu	37	17	74004745	74004745	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr17:74004745G>A	uc002jqi.2	-	22	4769	c.4541C>T	c.(4540-4542)TCG>TTG	p.S1514L	EVPL_uc010wss.1_Missense_Mutation_p.S1536L|EVPL_uc010wst.1_Missense_Mutation_p.S984L	NM_001988	NP_001979	Q92817	EVPL_HUMAN	envoplakin	1514	Central fibrous rod domain.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			pancreas(2)|central_nervous_system(1)|skin(1)	4						CTTCTCCTGCGATTTGGCTTT	0.597												
ST6GALNAC1	55808	broad.mit.edu	37	17	74625570	74625570	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr17:74625570C>T	uc002jsh.2	-	2	529	c.355G>A	c.(355-357)GCA>ACA	p.A119T	ST6GALNAC1_uc002jsi.2_5'UTR|ST6GALNAC1_uc002jsj.2_RNA	NM_018414	NP_060884	Q9NSC7	SIA7A_HUMAN	sialyltransferase 7A	119	Lumenal (Potential).				protein glycosylation	integral to Golgi membrane	alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity				0						GCCCTCTGTGCTGTGTGGGGC	0.597												
ENPP7	339221	broad.mit.edu	37	17	77705066	77705066	+	Silent	SNP	C	C	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr17:77705066C>T	uc002jxa.2	+	1	185	c.165C>T	c.(163-165)GAC>GAT	p.D55D		NM_178543	NP_848638	Q6UWV6	ENPP7_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase	55					negative regulation of cell proliferation|negative regulation of DNA replication|sphingomyelin metabolic process	Golgi apparatus|integral to membrane|microvillus	sphingomyelin phosphodiesterase activity			central_nervous_system(2)|ovary(1)	3			OV - Ovarian serous cystadenocarcinoma(97;0.016)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			CCAACCTGGACGCCATGGCCC	0.627												
RPTOR	57521	broad.mit.edu	37	17	78865556	78865556	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr17:78865556T>C	uc002jyt.1	+	18	2825	c.2020T>C	c.(2020-2022)TAT>CAT	p.Y674H	RPTOR_uc010wug.1_Missense_Mutation_p.Y516H	NM_020761	NP_065812	Q8N122	RPTOR_HUMAN	raptor isoform 1	674					cell cycle arrest|cell growth|cellular response to amino acid stimulus|cellular response to nutrient levels|insulin receptor signaling pathway|positive regulation of protein serine/threonine kinase activity|positive regulation of TOR signaling cascade|TOR signaling cascade	cytosol|lysosome|TORC1 complex	protein complex binding			lung(4)|urinary_tract(1)|ovary(1)	6						TGTGGTTCAGTATGAAAGCAA	0.517												
RPTOR	57521	broad.mit.edu	37	17	78882649	78882649	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr17:78882649G>T	uc002jyt.1	+	21	3245	c.2440G>T	c.(2440-2442)GTC>TTC	p.V814F	RPTOR_uc010wug.1_Missense_Mutation_p.V656F	NM_020761	NP_065812	Q8N122	RPTOR_HUMAN	raptor isoform 1	814					cell cycle arrest|cell growth|cellular response to amino acid stimulus|cellular response to nutrient levels|insulin receptor signaling pathway|positive regulation of protein serine/threonine kinase activity|positive regulation of TOR signaling cascade|TOR signaling cascade	cytosol|lysosome|TORC1 complex	protein complex binding			lung(4)|urinary_tract(1)|ovary(1)	6						GATTTGGAGAGTCCTGCTGCA	0.527												
BAHCC1	57597	broad.mit.edu	37	17	79430712	79430712	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr17:79430712C>T	uc002kaf.2	+	26	7696	c.7696C>T	c.(7696-7698)CGC>TGC	p.R2566C		NM_001080519	NP_001073988	Q9P281	BAHC1_HUMAN	BAH domain and coiled-coil containing 1	2566	BAH.						DNA binding			ovary(1)	1	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0224)|OV - Ovarian serous cystadenocarcinoma(97;0.116)			GGTCGTGGCGCGCGAGCAGTA	0.672												
LRRC45	201255	broad.mit.edu	37	17	79984832	79984832	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr17:79984832G>A	uc002kde.2	+	6	959	c.719G>A	c.(718-720)CGC>CAC	p.R240H		NM_144999	NP_659436	Q96CN5	LRC45_HUMAN	leucine rich repeat containing 45	240						centrosome				pancreas(1)	1	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191)			AACCAAGCCCGCACTCACGTC	0.542												
UTS2R	2837	broad.mit.edu	37	17	80332642	80332642	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr17:80332642C>T	uc010wvl.1	+	1	442	c.442C>T	c.(442-444)CGC>TGC	p.R148C		NM_018949	NP_061822	Q9UKP6	UR2R_HUMAN	urotensin 2 receptor	148	Cytoplasmic (Potential).					integral to membrane|plasma membrane				breast(1)	1	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.00928)|BRCA - Breast invasive adenocarcinoma(99;0.0833)			GAGCAGCGAGCGCTACGCTGC	0.692												
FOXK2	3607	broad.mit.edu	37	17	80529613	80529613	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr17:80529613C>T	uc002kfn.2	+	4	947	c.776C>T	c.(775-777)CCG>CTG	p.P259L	FOXK2_uc002kfm.1_Missense_Mutation_p.P259L|FOXK2_uc010diu.2_Missense_Mutation_p.P259L	NM_004514	NP_004505	Q01167	FOXK2_HUMAN	forkhead box K2	259	Fork-head.				embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|magnesium ion binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding				0	Breast(20;0.00106)|all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.0371)|BRCA - Breast invasive adenocarcinoma(99;0.0415)			GATTCAAAGCCGCCTTACTCC	0.363												
EPB41L3	23136	broad.mit.edu	37	18	5396200	5396200	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr18:5396200C>A	uc002kmt.1	-	19	3059	c.2973G>T	c.(2971-2973)CAG>CAT	p.Q991H	EPB41L3_uc010wzh.1_Missense_Mutation_p.Q822H|EPB41L3_uc002kmu.1_Missense_Mutation_p.Q769H|EPB41L3_uc010dkq.1_Missense_Mutation_p.Q660H|EPB41L3_uc002kms.1_Missense_Mutation_p.Q226H|EPB41L3_uc010wze.1_Missense_Mutation_p.Q296H|EPB41L3_uc010wzf.1_Missense_Mutation_p.Q288H|EPB41L3_uc010wzg.1_Missense_Mutation_p.Q263H|EPB41L3_uc010dkr.2_Missense_Mutation_p.Q383H	NM_012307	NP_036439	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	991	Carboxyl-terminal (CTD).				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity			ovary(5)	5						AATATCTCACCTGTGATGATT	0.438												
CIDEA	1149	broad.mit.edu	37	18	12274164	12274164	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr18:12274164A>G	uc002kqt.3	+	4	468	c.403A>G	c.(403-405)AGG>GGG	p.R135G	CIDEA_uc002kqu.3_Missense_Mutation_p.R169G|CIDEA_uc010dlc.2_RNA	NM_001279	NP_001270	O60543	CIDEA_HUMAN	cell death-inducing DFFA-like effector a isoform	135					DNA damage response, signal transduction resulting in induction of apoptosis|DNA fragmentation involved in apoptotic nuclear change|lipid metabolic process|lipid storage|negative regulation of apoptosis|negative regulation of cytokine secretion|negative regulation of lipid catabolic process|negative regulation of transforming growth factor beta receptor signaling pathway|negative regulation of tumor necrosis factor production|positive regulation of sequestering of triglyceride|temperature homeostasis	mitochondrial envelope|nucleus	protein homodimerization activity			ovary(1)|central_nervous_system(1)	2						CGACTTGTACAGGCTGAACCC	0.597												
TUBB6	84617	broad.mit.edu	37	18	12325150	12325150	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr18:12325150G>A	uc002kqw.2	+	4	407	c.362G>A	c.(361-363)CGG>CAG	p.R121Q	TUBB6_uc002kqv.2_Missense_Mutation_p.R49Q|TUBB6_uc010dld.2_RNA|TUBB6_uc002kqx.2_Missense_Mutation_p.R84Q|TUBB6_uc002kqy.2_Intron	NM_032525	NP_115914	Q9BUF5	TBB6_HUMAN	tubulin, beta 6	121					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity				0				READ - Rectum adenocarcinoma(1;0.0649)		GACGTGGTGCGGAAGGAGTGC	0.662												
DSG3	1830	broad.mit.edu	37	18	29044085	29044085	+	Silent	SNP	T	T	C	rs113083364		TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr18:29044085T>C	uc002kws.2	+	9	1120	c.1011T>C	c.(1009-1011)TAT>TAC	p.Y337Y		NM_001944	NP_001935	P32926	DSG3_HUMAN	desmoglein 3 preproprotein	337	Cadherin 3.|Extracellular (Potential).				cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding			skin(4)|ovary(3)|lung(1)|central_nervous_system(1)	9			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			CTCTAGATTATGAACAACTAC	0.393												
SETBP1	26040	broad.mit.edu	37	18	42281525	42281525	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr18:42281525A>C	uc010dni.2	+	2	510	c.214A>C	c.(214-216)AAC>CAC	p.N72H	SETBP1_uc002lay.2_Missense_Mutation_p.N72H	NM_015559	NP_056374	Q9Y6X0	SETBP_HUMAN	SET binding protein 1 isoform a	72						nucleus	DNA binding			upper_aerodigestive_tract(2)|large_intestine(1)	3				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		TGTGGATTCCAACTCCAACGC	0.567									Schinzel-Giedion_syndrome			
SLC14A2	8170	broad.mit.edu	37	18	43253755	43253755	+	Nonsense_Mutation	SNP	C	C	T	rs151319242		TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr18:43253755C>T	uc010dnj.2	+	19	2806	c.2485C>T	c.(2485-2487)CAG>TAG	p.Q829*	SLC14A2_uc002lbe.2_Nonsense_Mutation_p.Q829*	NM_007163	NP_009094	Q15849	UT2_HUMAN	solute carrier family 14 (urea transporter),	829						apical plasma membrane|integral to membrane|membrane fraction	protein binding|urea transmembrane transporter activity			upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)|skin(1)	4						CATCACCTGGCAGACGCACCT	0.478												
TCEB3B	51224	broad.mit.edu	37	18	44561289	44561289	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr18:44561289G>T	uc002lcr.1	-	1	700	c.347C>A	c.(346-348)GCG>GAG	p.A116E	KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.2_Intron|KATNAL2_uc002lcp.3_Intron	NM_016427	NP_057511	Q8IYF1	ELOA2_HUMAN	elongin A2	116					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						GGGGGCCGTCGCGTTTTCTGG	0.662												
HDHD2	84064	broad.mit.edu	37	18	44662713	44662713	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr18:44662713T>A	uc002lcs.2	-	2	231	c.98A>T	c.(97-99)AAA>ATA	p.K33I	HDHD2_uc002lct.2_5'UTR	NM_032124	NP_115500	Q9H0R4	HDHD2_HUMAN	haloacid dehalogenase-like hydrolase domain	33							hydrolase activity				0						AGCTTGCCTTTTAAGAGCTTC	0.458												
DYM	54808	broad.mit.edu	37	18	46956658	46956658	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr18:46956658A>C	uc002ldi.1	-	2	472	c.107T>G	c.(106-108)CTT>CGT	p.L36R	DYM_uc010xdf.1_Missense_Mutation_p.L36R	NM_017653	NP_060123	Q7RTS9	DYM_HUMAN	dymeclin	36						Golgi apparatus					0						AAATGAGAGAAGCTGATTCCA	0.418												
CXXC1	30827	broad.mit.edu	37	18	47811481	47811481	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr18:47811481T>C	uc002leq.3	-	7	1536	c.803A>G	c.(802-804)GAG>GGG	p.E268G	CXXC1_uc002lep.3_Missense_Mutation_p.E125G|CXXC1_uc002ler.3_Missense_Mutation_p.E268G|CXXC1_uc010doy.2_Missense_Mutation_p.E268G|CXXC1_uc002les.2_Missense_Mutation_p.E268G	NM_014593	NP_055408	Q9P0U4	CXXC1_HUMAN	CXXC finger 1 (PHD domain) isoform 2	268	Asp/Glu-rich (acidic).				histone H3-K4 methylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck|Set1C/COMPASS complex	protein binding|unmethylated CpG binding|zinc ion binding			upper_aerodigestive_tract(1)|ovary(1)	2						CTCAGGAGGCTCCTTGACTGT	0.597												
MAPK4	5596	broad.mit.edu	37	18	48241512	48241512	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr18:48241512A>G	uc002lev.2	+	3	1610	c.610A>G	c.(610-612)AAT>GAT	p.N204D	MAPK4_uc010xdm.1_5'UTR|MAPK4_uc010doz.2_Missense_Mutation_p.N204D	NM_002747	NP_002738	P31152	MK04_HUMAN	mitogen-activated protein kinase 4	204	Protein kinase.				cell cycle		ATP binding|MAP kinase activity			lung(4)|skin(2)	6		Colorectal(6;0.0297)		Colorectal(21;0.156)		CCTTTCCCCCAATAACTACAC	0.507												
FECH	2235	broad.mit.edu	37	18	55233706	55233706	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr18:55233706A>G	uc002lgq.3	-	5	688	c.571T>C	c.(571-573)TAT>CAT	p.Y191H	FECH_uc002lgp.3_Missense_Mutation_p.Y197H|FECH_uc002lgr.3_Missense_Mutation_p.Y49H	NM_000140	NP_000131	P22830	HEMH_HUMAN	ferrochelatase isoform b precursor	191			Y -> H (in EPP; enzyme retains 72% of activity).		generation of precursor metabolites and energy|heme biosynthetic process|protoporphyrinogen IX metabolic process|response to light stimulus	mitochondrial inner membrane|mitochondrial matrix	2 iron, 2 sulfur cluster binding|ferrochelatase activity|ferrous iron binding|protein binding			central_nervous_system(1)	1		Colorectal(73;0.227)				TACTGTGGATACTGTGTGAAA	0.443												
ATP8B1	5205	broad.mit.edu	37	18	55335683	55335683	+	Missense_Mutation	SNP	C	C	G			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr18:55335683C>G	uc002lgw.2	-	18	2187	c.2187G>C	c.(2185-2187)TGG>TGC	p.W729C	uc002lgu.1_RNA|uc002lgv.1_Intron	NM_005603	NP_005594	O43520	AT8B1_HUMAN	ATPase, class I, type 8B, member 1	729	Cytoplasmic (Potential).				ATP biosynthetic process|bile acid and bile salt transport|negative regulation of transcription, DNA-dependent	apical plasma membrane|integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(5)|ovary(2)|central_nervous_system(2)|lung(1)	10		Colorectal(73;0.229)				CAGTAAGCACCCAGATCTTAA	0.408									Byler_disease			
CDH20	28316	broad.mit.edu	37	18	59221533	59221533	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr18:59221533G>A	uc010dps.1	+	11	2023	c.2011G>A	c.(2011-2013)GGC>AGC	p.G671S	CDH20_uc002lif.2_Missense_Mutation_p.G665S	NM_031891	NP_114097	Q9HBT6	CAD20_HUMAN	cadherin 20, type 2 preproprotein	671	Cytoplasmic (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|ovary(1)|pancreas(1)	5		Colorectal(73;0.186)				CGAGGGCGGCGGCGAGGAGGA	0.652												
SERPINB5	5268	broad.mit.edu	37	18	61154235	61154235	+	Silent	SNP	G	G	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr18:61154235G>A	uc002liz.3	+	3	367	c.225G>A	c.(223-225)TCG>TCA	p.S75S	SERPINB5_uc002liy.2_Silent_p.S75S	NM_002639	NP_002630	P36952	SPB5_HUMAN	serine (or cysteine) proteinase inhibitor, clade	75					cellular component movement|regulation of proteolysis	cytoplasm|extracellular space	protein binding|serine-type endopeptidase inhibitor activity			ovary(1)	1						CAGTAACATCGGATGTAAACA	0.358												
SERPINB13	5275	broad.mit.edu	37	18	61260166	61260166	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr18:61260166C>T	uc002ljc.2	+	5	601	c.433C>T	c.(433-435)CGA>TGA	p.R145*	SERPINB13_uc002ljd.2_5'UTR|SERPINB13_uc010xep.1_Nonsense_Mutation_p.R154*|SERPINB13_uc010xeq.1_Intron|SERPINB13_uc010xer.1_Intron	NM_012397	NP_036529	Q9UIV8	SPB13_HUMAN	serine (or cysteine) proteinase inhibitor, clade	145					regulation of proteolysis|response to UV	cytoplasm|extracellular region	serine-type endopeptidase inhibitor activity			ovary(1)	1						CGATGAAAGTCGAAAGAAGAT	0.323												
RTTN	25914	broad.mit.edu	37	18	67806936	67806936	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr18:67806936A>G	uc002lkp.2	-	21	2755	c.2687T>C	c.(2686-2688)GTA>GCA	p.V896A	RTTN_uc002lko.2_RNA|RTTN_uc010xfb.1_5'UTR	NM_173630	NP_775901	Q86VV8	RTTN_HUMAN	rotatin	896							binding			ovary(3)|pancreas(2)|skin(1)|breast(1)|central_nervous_system(1)	8		Esophageal squamous(42;0.129)				GCATGGTTGTACCAAACATTC	0.413												
CNDP2	55748	broad.mit.edu	37	18	72178084	72178084	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr18:72178084A>G	uc002llm.1	+	6	655	c.493A>G	c.(493-495)ATG>GTG	p.M165V	CNDP2_uc002lln.1_Missense_Mutation_p.M81V|CNDP2_uc010dqs.2_Missense_Mutation_p.M1V	NM_018235	NP_060705	Q96KP4	CNDP2_HUMAN	CNDP dipeptidase 2	165						cytoplasm	carboxypeptidase activity|metal ion binding|metallopeptidase activity|protein binding|tripeptidase activity			ovary(2)|skin(1)	3		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.22)		CCTCGAAGGCATGGAGGAGTC	0.493												
TSHZ1	10194	broad.mit.edu	37	18	72998529	72998529	+	Silent	SNP	C	C	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr18:72998529C>T	uc002lly.2	+	2	1595	c.1032C>T	c.(1030-1032)TAC>TAT	p.Y344Y		NM_005786	NP_005777	Q6ZSZ6	TSH1_HUMAN	teashirt family zinc finger 1	389						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)		CGAACCCGTACGTCACGCCCA	0.617												
TSHZ1	10194	broad.mit.edu	37	18	73000349	73000349	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr18:73000349G>A	uc002lly.2	+	2	3415	c.2852G>A	c.(2851-2853)AGC>AAC	p.S951N		NM_005786	NP_005777	Q6ZSZ6	TSH1_HUMAN	teashirt family zinc finger 1	996						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)		TTGGGCTTCAGCCTGAAGGAT	0.488												
ZNF236	7776	broad.mit.edu	37	18	74563868	74563868	+	Silent	SNP	G	G	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr18:74563868G>A	uc002lmi.2	+	3	528	c.330G>A	c.(328-330)GCG>GCA	p.A110A	ZNF236_uc002lmj.2_RNA|ZNF236_uc002lmk.1_Silent_p.A110A	NM_007345	NP_031371	Q9UL36	ZN236_HUMAN	zinc finger protein 236	110	C2H2-type 3.				cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(4)	4		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		GTCTCAAAGCGCATATTATGC	0.393												
CTDP1	9150	broad.mit.edu	37	18	77475147	77475147	+	Silent	SNP	C	C	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr18:77475147C>T	uc002lnh.1	+	8	1834	c.1687C>T	c.(1687-1689)CTG>TTG	p.L563L	CTDP1_uc002lni.1_Silent_p.L563L|CTDP1_uc010drd.1_Silent_p.L563L	NM_004715	NP_004706	Q9Y5B0	CTDP1_HUMAN	CTD (carboxy-terminal domain, RNA polymerase II,	563					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)		GAACAGCGAGCTGTCGGGGGT	0.587												
ADNP2	22850	broad.mit.edu	37	18	77894088	77894088	+	Silent	SNP	G	G	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr18:77894088G>A	uc002lnw.2	+	4	1247	c.792G>A	c.(790-792)ACG>ACA	p.T264T		NM_014913	NP_055728	Q6IQ32	ADNP2_HUMAN	ADNP homeobox 2	264					cellular response to oxidative stress|cellular response to retinoic acid|negative regulation of cell death|neuron differentiation|positive regulation of cell growth	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(4)|breast(3)|central_nervous_system(1)	8		all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2)		Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164)		TGAAGCAAACGCACATTGCTC	0.463												
ADNP2	22850	broad.mit.edu	37	18	77894778	77894778	+	Silent	SNP	G	G	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr18:77894778G>A	uc002lnw.2	+	4	1937	c.1482G>A	c.(1480-1482)CCG>CCA	p.P494P		NM_014913	NP_055728	Q6IQ32	ADNP2_HUMAN	ADNP homeobox 2	494					cellular response to oxidative stress|cellular response to retinoic acid|negative regulation of cell death|neuron differentiation|positive regulation of cell growth	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(4)|breast(3)|central_nervous_system(1)	8		all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2)		Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164)		AGACAGCTCCGTCACGGGTTC	0.597												
JSRP1	126306	broad.mit.edu	37	19	2254215	2254215	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr19:2254215G>A	uc002lvi.1	-	3	268	c.233C>T	c.(232-234)ACG>ATG	p.T78M	JSRP1_uc002lvj.1_Missense_Mutation_p.T78M	NM_144616	NP_653217	Q96MG2	JSPR1_HUMAN	junctional sarcoplasmic reticulum protein 1	78						sarcoplasmic reticulum membrane				pancreas(1)	1				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CTCCTTCCCCGTTCCTGGGGT	0.627											OREG0025137	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
SLC39A3	29985	broad.mit.edu	37	19	2737214	2737214	+	Silent	SNP	G	G	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr19:2737214G>A	uc002lwg.2	-	2	296	c.42C>T	c.(40-42)GGC>GGT	p.G14G	SLC39A3_uc010xgy.1_Silent_p.G14G|SLC39A3_uc002lwh.2_Silent_p.G14G	NM_144564	NP_653165	Q9BRY0	S39A3_HUMAN	solute carrier family 39 (zinc transporter),	14	Helical; (Potential).					integral to membrane|plasma membrane	zinc ion transmembrane transporter 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)		AGAAGAACACGCCCACCATGC	0.562												
ZNF554	115196	broad.mit.edu	37	19	2833886	2833886	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr19:2833886C>T	uc002lwm.2	+	5	851	c.653C>T	c.(652-654)GCA>GTA	p.A218V	ZNF554_uc002lwl.2_Missense_Mutation_p.A167V	NM_001102651	NP_001096121	Q86TJ5	ZN554_HUMAN	zinc finger protein 554	218					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AAGGCTACTGCATGGCATGGA	0.512												
ZNF556	80032	broad.mit.edu	37	19	2877814	2877814	+	Silent	SNP	G	G	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr19:2877814G>A	uc002lwp.1	+	4	945	c.858G>A	c.(856-858)CCG>CCA	p.P286P	ZNF556_uc002lwq.2_Silent_p.P285P	NM_024967	NP_079243	Q9HAH1	ZN556_HUMAN	zinc finger protein 556	286					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(3)	3				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)		GAGGGAGACCGTATGAGTGCA	0.517												
TMIGD2	126259	broad.mit.edu	37	19	4292680	4292680	+	Silent	SNP	G	G	A	rs148804982	byFrequency	TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr19:4292680G>A	uc002lzx.1	-	5	811	c.765C>T	c.(763-765)CCC>CCT	p.P255P	TMIGD2_uc010dtv.1_Silent_p.P251P	NM_144615	NP_653216	Q96BF3	TMIG2_HUMAN	transmembrane and immunoglobulin domain	255	Pro-rich.|Cytoplasmic (Potential).					integral to membrane					0				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0339)|STAD - Stomach adenocarcinoma(1328;0.18)		CCATAGAGACGGGGTggccgg	0.498												
LONP1	9361	broad.mit.edu	37	19	5693672	5693672	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr19:5693672A>G	uc002mcx.2	-	16	2462	c.2429T>C	c.(2428-2430)ATG>ACG	p.M810T	LONP1_uc002mcy.2_Missense_Mutation_p.M746T|LONP1_uc010duh.2_Missense_Mutation_p.M551T|LONP1_uc010dui.2_Missense_Mutation_p.M794T|LONP1_uc002mcz.2_Missense_Mutation_p.M614T	NM_004793	NP_004784	P36776	LONM_HUMAN	mitochondrial lon peptidase 1 precursor	810					cellular chaperone-mediated protein complex assembly|cellular response to oxidative stress|misfolded or incompletely synthesized protein catabolic process|mitochondrial DNA metabolic process|oxidation-dependent protein catabolic process|protein homooligomerization|response to hypoxia	mitochondrial nucleoid	ADP binding|ATP binding|ATP-dependent peptidase activity|DNA polymerase binding|G-quadruplex DNA binding|mitochondrial heavy strand promoter anti-sense binding|mitochondrial light strand promoter anti-sense binding|sequence-specific DNA binding|serine-type endopeptidase activity|single-stranded DNA binding|single-stranded RNA binding				0						GCTCTCCTTCATCACCTCCCC	0.607												
LONP1	9361	broad.mit.edu	37	19	5700863	5700863	+	Silent	SNP	C	C	T	rs146759309	byFrequency	TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr19:5700863C>T	uc002mcx.2	-	9	1476	c.1443G>A	c.(1441-1443)GCG>GCA	p.A481A	LONP1_uc002mcy.2_Silent_p.A417A|LONP1_uc010duh.2_Silent_p.A222A|LONP1_uc010dui.2_Silent_p.A465A|LONP1_uc002mcz.2_Silent_p.A285A	NM_004793	NP_004784	P36776	LONM_HUMAN	mitochondrial lon peptidase 1 precursor	481					cellular chaperone-mediated protein complex assembly|cellular response to oxidative stress|misfolded or incompletely synthesized protein catabolic process|mitochondrial DNA metabolic process|oxidation-dependent protein catabolic process|protein homooligomerization|response to hypoxia	mitochondrial nucleoid	ADP binding|ATP binding|ATP-dependent peptidase activity|DNA polymerase binding|G-quadruplex DNA binding|mitochondrial heavy strand promoter anti-sense binding|mitochondrial light strand promoter anti-sense binding|sequence-specific DNA binding|serine-type endopeptidase activity|single-stranded DNA binding|single-stranded RNA binding				0						CCTGTGCCCGCGCCAGGTCCA	0.587												
SH2D3A	10045	broad.mit.edu	37	19	6760727	6760727	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr19:6760727A>C	uc002mft.2	-	3	535	c.341T>G	c.(340-342)GTG>GGG	p.V114G	SH2D3A_uc010xjg.1_Intron	NM_005490	NP_005481	Q9BRG2	SH23A_HUMAN	SH2 domain containing 3A	114	SH2.				JNK cascade|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			breast(2)	2						CTGCCAAGTCACAGGCCTGGA	0.612												
XAB2	56949	broad.mit.edu	37	19	7685435	7685435	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr19:7685435G>A	uc002mgx.2	-	15	2118	c.2092C>T	c.(2092-2094)CGG>TGG	p.R698W		NM_020196	NP_064581	Q9HCS7	SYF1_HUMAN	XPA binding protein 2	698	HAT 14.				transcription, DNA-dependent|transcription-coupled nucleotide-excision repair	catalytic step 2 spliceosome|nucleoplasm	protein binding			central_nervous_system(2)|breast(1)|skin(1)	4						AGCCCTACCCGGGGGTCACAG	0.677								Direct_reversal_of_damage|NER				
CD320	51293	broad.mit.edu	37	19	8367483	8367483	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr19:8367483A>G	uc002mjj.1	-	5	778	c.713T>C	c.(712-714)CTC>CCC	p.L238P	CD320_uc002mjk.1_RNA|CD320_uc002mjl.1_Missense_Mutation_p.L196P	NM_016579	NP_057663	Q9NPF0	CD320_HUMAN	8D6 antigen isoform 1 precursor	238	Helical; (Potential).				regulation of cell growth	endoplasmic reticulum|integral to membrane	growth factor activity				0						GCTTGCACTGAGCACCGCTGT	0.627												
ZNF558	148156	broad.mit.edu	37	19	8932736	8932736	+	Silent	SNP	T	T	C			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr19:8932736T>C	uc002mkn.1	-	2	293	c.63A>G	c.(61-63)CAA>CAG	p.Q21Q	ZNF558_uc010xkh.1_5'Flank|ZNF558_uc010dwg.1_Silent_p.Q21Q	NM_144693	NP_653294	Q96NG5	ZN558_HUMAN	zinc finger protein 558	21					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			central_nervous_system(1)	1						TGTGTCCTTTTTGCTGAGAGG	0.527												
MUC16	94025	broad.mit.edu	37	19	9077103	9077103	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr19:9077103T>C	uc002mkp.2	-	3	10547	c.10343A>G	c.(10342-10344)AAC>AGC	p.N3448S		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	3449	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						GTATAATGTGTTTGTGACATC	0.478												
MUC16	94025	broad.mit.edu	37	19	9087343	9087343	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr19:9087343G>A	uc002mkp.2	-	1	4676	c.4472C>T	c.(4471-4473)CCT>CTT	p.P1491L		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	1491	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						TGTGGACATAGGTGGAAAAAT	0.428												
ZNF266	10781	broad.mit.edu	37	19	9524026	9524026	+	Silent	SNP	G	G	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr19:9524026G>A	uc002mll.2	-	4	1841	c.1575C>T	c.(1573-1575)TGC>TGT	p.C525C	ZNF266_uc002mlm.2_Silent_p.C525C|ZNF266_uc002mln.2_Silent_p.C525C|ZNF266_uc002mlo.2_Silent_p.C525C|ZNF266_uc010dwp.2_Silent_p.C525C|ZNF266_uc010dwq.2_Silent_p.C525C	NM_198058	NP_932175	Q14584	ZN266_HUMAN	zinc finger protein 266	525	C2H2-type 14.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						AGGCTTTCCCGCACTCCTTAC	0.428												
OLFM2	93145	broad.mit.edu	37	19	9968487	9968487	+	Silent	SNP	G	G	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr19:9968487G>A	uc002mmp.2	-	3	292	c.264C>T	c.(262-264)CGC>CGT	p.R88R	OLFM2_uc002mmo.2_Silent_p.R10R	NM_058164	NP_477512	O95897	NOE2_HUMAN	olfactomedin 2 precursor	88						extracellular region				large_intestine(1)|skin(1)	2						ACTGGAGGTCGCGATACGTCC	0.612												
ZGLP1	100125288	broad.mit.edu	37	19	10419251	10419251	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr19:10419251C>T	uc002mnw.3	-	1	983	c.107G>A	c.(106-108)CGT>CAT	p.R36H	FDX1L_uc002mnx.1_Intron	NM_001103167	NP_001096637	P0C6A0	ZGLP1_HUMAN	GATA like protein-1	36					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1						AGTGGGGTCACGTTTTCTTGG	0.622												
CDC37	11140	broad.mit.edu	37	19	10506695	10506695	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr19:10506695C>T	uc002mof.1	-	2	403	c.287G>A	c.(286-288)CGG>CAG	p.R96Q	CDC37_uc002moe.1_5'Flank|CDC37_uc010dxf.1_5'UTR|CDC37_uc002mog.1_Missense_Mutation_p.R96Q|CDC37_uc002moh.2_Missense_Mutation_p.R96Q	NM_007065	NP_008996	Q16543	CDC37_HUMAN	cell division cycle 37 protein	96					protein targeting|regulation of cyclin-dependent protein kinase activity|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway		unfolded protein binding				0			OV - Ovarian serous cystadenocarcinoma(20;4.65e-10)|Epithelial(33;6.48e-07)|all cancers(31;2.31e-06)	GBM - Glioblastoma multiforme(1328;0.0318)		CTCCCAGCTCCGCTCCTCCTT	0.642												
KEAP1	9817	broad.mit.edu	37	19	10610092	10610092	+	Silent	SNP	G	G	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr19:10610092G>A	uc002moq.1	-	2	774	c.618C>T	c.(616-618)TAC>TAT	p.Y206Y	KEAP1_uc002mor.1_Silent_p.Y206Y	NM_012289	NP_036421	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	206	BACK.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|midbody|nucleus	protein binding			lung(12)|breast(3)|ovary(1)|pancreas(1)	17			OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)			GCATGTAGATGTACTCCCGGG	0.602												
ELAVL3	1995	broad.mit.edu	37	19	11565601	11565601	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr19:11565601C>T	uc002mry.1	-	7	1224	c.844G>A	c.(844-846)GCC>ACC	p.A282T	ELAVL3_uc002mrx.1_Missense_Mutation_p.A275T	NM_001420	NP_001411	Q14576	ELAV3_HUMAN	ELAV-like protein 3 isoform 1	282				Missing (in Ref. 1; AAA58677 and 4; BAA21838).	cell differentiation|nervous system development		AU-rich element binding|nucleotide binding			ovary(1)|breast(1)|skin(1)	3						CACCAgccggcgcccgccgcg	0.547												
ELOF1	84337	broad.mit.edu	37	19	11664600	11664600	+	Silent	SNP	G	G	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr19:11664600G>A	uc002mse.1	-	4	277	c.213C>T	c.(211-213)TAC>TAT	p.Y71Y	ELOF1_uc002msd.1_Silent_p.Y92Y	NM_032377	NP_115753	P60002	ELOF1_HUMAN	elongation factor 1 homolog (ELF1, S.	71					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding				0						TCCAATCACTGTACACATCCA	0.577												
ZNF564	163050	broad.mit.edu	37	19	12638137	12638137	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr19:12638137A>G	uc002mty.2	-	4	995	c.785T>C	c.(784-786)TTT>TCT	p.F262S	ZNF709_uc002mtx.3_Intron	NM_144976	NP_659413	Q8TBZ8	ZN564_HUMAN	zinc finger protein 564	262	C2H2-type 6.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						GGGGCGGTCAAAGGCTTTTCC	0.398												
PKN1	5585	broad.mit.edu	37	19	14574680	14574680	+	Silent	SNP	C	C	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr19:14574680C>T	uc002myp.2	+	11	1704	c.1536C>T	c.(1534-1536)GTC>GTT	p.V512V	PKN1_uc002myq.2_Silent_p.V518V	NM_002741	NP_002732	Q16512	PKN1_HUMAN	protein kinase N1 isoform 2	512					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						ACATCGATGTCGCCACGTGGG	0.682												
HSH2D	84941	broad.mit.edu	37	19	16268222	16268222	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr19:16268222G>A	uc002ndp.3	+	9	1207	c.676G>A	c.(676-678)GCC>ACC	p.A226T	HSH2D_uc002ndr.2_Missense_Mutation_p.R169H|HSH2D_uc010ead.2_RNA	NM_032855	NP_116244	Q96JZ2	HSH2D_HUMAN	hematopoietic SH2 domain containing	226						cytoplasm|nucleus					0						AAGCCACCTCGCCACTGTGAA	0.582												
NWD1	284434	broad.mit.edu	37	19	16918704	16918704	+	Silent	SNP	C	C	T	rs61735363	byFrequency	TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr19:16918704C>T	uc002neu.3	+	18	4466	c.4044C>T	c.(4042-4044)CCC>CCT	p.P1348P	NWD1_uc002net.3_Silent_p.P1213P|NWD1_uc002nev.3_Silent_p.P1142P			Q149M9	NWD1_HUMAN	RecName: Full=NACHT and WD repeat domain-containing protein 1;	1348							ATP binding			skin(3)|ovary(2)|pancreas(2)	7						CTCAGCTGCCCGAGACCCTCT	0.572												
MYO9B	4650	broad.mit.edu	37	19	17298808	17298808	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr19:17298808C>T	uc010eak.2	+	19	2794	c.2642C>T	c.(2641-2643)ACC>ATC	p.T881I	MYO9B_uc002nfi.2_Missense_Mutation_p.T881I|MYO9B_uc002nfj.1_Missense_Mutation_p.T881I	NM_004145	NP_004136	Q13459	MYO9B_HUMAN	myosin IXB isoform 1	881	Myosin head-like.				actin filament-based movement	cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm	actin binding|ADP binding|ATP binding|ATPase activity|calmodulin binding|metal ion binding|microfilament motor activity|Rho GTPase activator activity			breast(1)	1						ATGCTGGAGACCGTGCGCATC	0.577												
GTPBP3	84705	broad.mit.edu	37	19	17452410	17452410	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr19:17452410G>T	uc010eas.2	+	9	1442	c.1377G>T	c.(1375-1377)GAG>GAT	p.E459D	GTPBP3_uc010xpo.1_Missense_Mutation_p.E481D|GTPBP3_uc002ngh.3_Missense_Mutation_p.E438D|GTPBP3_uc002ngg.3_Missense_Mutation_p.E491D|GTPBP3_uc002ngi.3_Missense_Mutation_p.E125D	NM_032620	NP_116009	Q969Y2	GTPB3_HUMAN	GTP binding protein 3 (mitochondrial) isoform V	459					tRNA modification	mitochondrion	GTP binding|GTPase activity			skin(1)	1						TGGCGGCAGAGGCGCTGCGGG	0.657												
LPAR2	9170	broad.mit.edu	37	19	19735185	19735185	+	Silent	SNP	G	G	A	rs144833106		TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr19:19735185G>A	uc002nnb.3	-	3	1075	c.936C>T	c.(934-936)TGC>TGT	p.C312C	LPAR2_uc002nna.3_Silent_p.C312C|LPAR2_uc002nnc.3_Silent_p.C312C	NM_004720	NP_004711	Q9HBW0	LPAR2_HUMAN	lysophosphatidic acid receptor 2	312	Cytoplasmic (Potential).				activation of phospholipase C activity|elevation of cytosolic calcium ion concentration	cell surface|integral to plasma membrane	LIM domain binding|lipid binding			ovary(1)|breast(1)	2						GGAGGCACGCGCAGCAGAGAA	0.627												
ZNF506	440515	broad.mit.edu	37	19	19906095	19906095	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr19:19906095A>G	uc010eci.2	-	4	749	c.601T>C	c.(601-603)TAT>CAT	p.Y201H	ZNF506_uc002nog.2_Intron|ZNF506_uc002noh.3_Missense_Mutation_p.Y169H	NM_001099269	NP_001092739	Q5JVG8	ZN506_HUMAN	zinc finger protein 506 isoform 1	201	C2H2-type 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|zinc ion binding				0						TCACATTTATAGCGTTTCTCT	0.338												
ZNF708	7562	broad.mit.edu	37	19	21477541	21477541	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr19:21477541G>A	uc002npq.1	-	4	425	c.227C>T	c.(226-228)GCT>GTT	p.A76V	ZNF708_uc002npr.1_Missense_Mutation_p.A12V|ZNF708_uc010ecs.1_Missense_Mutation_p.A12V	NM_021269	NP_067092	P17019	ZN708_HUMAN	zinc finger protein 708	76					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(4)|skin(2)	6						AGAACACATAGCTGAAAGAAA	0.289												
ZNF536	9745	broad.mit.edu	37	19	31039376	31039376	+	Silent	SNP	C	C	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr19:31039376C>T	uc002nsu.1	+	4	2988	c.2850C>T	c.(2848-2850)CAC>CAT	p.H950H	ZNF536_uc010edd.1_Silent_p.H950H	NM_014717	NP_055532	O15090	ZN536_HUMAN	zinc finger protein 536	950					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)					TGAAAGTCCACGGAGTGGATG	0.532												
ZNF536	9745	broad.mit.edu	37	19	31039865	31039865	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr19:31039865G>T	uc002nsu.1	+	4	3477	c.3339G>T	c.(3337-3339)AAG>AAT	p.K1113N	ZNF536_uc010edd.1_Missense_Mutation_p.K1113N	NM_014717	NP_055532	O15090	ZN536_HUMAN	zinc finger protein 536	1113					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)					ACTTCTACAAGCAGTTTGGTG	0.567												
LSM14A	26065	broad.mit.edu	37	19	34687605	34687605	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr19:34687605C>T	uc002nvb.3	+	3	548	c.352C>T	c.(352-354)CCC>TCC	p.P118S	LSM14A_uc002nva.3_Missense_Mutation_p.P118S|LSM14A_uc010xru.1_Missense_Mutation_p.P118S	NM_001114093	NP_001107565	Q8ND56	LS14A_HUMAN	LSM14 homolog A isoform a	118					cytoplasmic mRNA processing body assembly|multicellular organismal development|regulation of translation	cytoplasmic mRNA processing body|intracellular membrane-bounded organelle|stress granule				skin(1)	1	Esophageal squamous(110;0.162)					CGGCAGGATGCCCACATACAG	0.403												
ZNF302	55900	broad.mit.edu	37	19	35174067	35174067	+	Silent	SNP	C	C	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr19:35174067C>T	uc002nvr.1	+	5	533	c.270C>T	c.(268-270)TCC>TCT	p.S90S	ZNF302_uc010xrz.1_Silent_p.S47S|ZNF302_uc002nvp.1_Silent_p.S46S|ZNF302_uc002nvq.1_Silent_p.S46S|ZNF302_uc002nvs.1_Silent_p.S46S	NM_018443	NP_060913	Q9NR11	ZN302_HUMAN	zinc finger protein 302	Error:Variant_position_missing_in_Q9NR11_after_alignment					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	all_lung(56;6.16e-07)|Lung NSC(56;9.71e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			CAGGTCTTTCCGTAACTAAGC	0.418												
ZNF567	163081	broad.mit.edu	37	19	37210721	37210721	+	Nonsense_Mutation	SNP	T	T	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr19:37210721T>A	uc010xtl.1	+	6	1317	c.1095T>A	c.(1093-1095)TAT>TAA	p.Y365*	ZNF567_uc002oeo.1_Nonsense_Mutation_p.Y365*|ZNF567_uc010xtk.1_Nonsense_Mutation_p.Y365*|ZNF567_uc002oep.3_Nonsense_Mutation_p.Y334*|ZNF567_uc002oeq.1_Nonsense_Mutation_p.Y334*	NM_152603	NP_689816	Q8N184	ZN567_HUMAN	zinc finger protein 567	365	C2H2-type 6.				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)			AGAAACCATATGAGTGTAATG	0.443												
ZNF607	84775	broad.mit.edu	37	19	38189172	38189172	+	Silent	SNP	T	T	C			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr19:38189172T>C	uc002ohc.1	-	5	2456	c.1860A>G	c.(1858-1860)AAA>AAG	p.K620K	ZNF607_uc002ohb.1_Silent_p.K619K	NM_032689	NP_116078	Q96SK3	ZN607_HUMAN	zinc finger protein 607	620	C2H2-type 18.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)			TCCCACATCTTTTACATTCAT	0.378												
SIPA1L3	23094	broad.mit.edu	37	19	38572895	38572895	+	Silent	SNP	C	C	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr19:38572895C>T	uc002ohk.2	+	3	1199	c.690C>T	c.(688-690)CCC>CCT	p.P230P		NM_015073	NP_055888	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like	230					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)			GCGAGCAGCCCGACGCCCGAG	0.692												
SIPA1L3	23094	broad.mit.edu	37	19	38573583	38573583	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr19:38573583G>A	uc002ohk.2	+	3	1887	c.1378G>A	c.(1378-1380)GCA>ACA	p.A460T		NM_015073	NP_055888	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like	460					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)			GGGCCACCTGGCAGAGCCCGC	0.687												
DPF1	8193	broad.mit.edu	37	19	38706879	38706879	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr19:38706879T>C	uc002ohl.2	-	8	775	c.748A>G	c.(748-750)ACT>GCT	p.T250A	DPF1_uc002ohm.2_Missense_Mutation_p.T294A|DPF1_uc002ohn.2_Missense_Mutation_p.T212A|DPF1_uc010xtu.1_Missense_Mutation_p.T268A|DPF1_uc010xtv.1_Missense_Mutation_p.T268A	NM_004647	NP_004638	Q92782	DPF1_HUMAN	D4, zinc and double PHD fingers family 1 isoform	250					induction of apoptosis|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nBAF complex	zinc ion binding				0	all_cancers(60;1.24e-06)		Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			GGGATGACAGTGCCGTCGGGC	0.632												
RYR1	6261	broad.mit.edu	37	19	39018367	39018367	+	Silent	SNP	C	C	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr19:39018367C>T	uc002oit.2	+	73	10897	c.10767C>T	c.(10765-10767)CCC>CCT	p.P3589P	RYR1_uc002oiu.2_Silent_p.P3584P|RYR1_uc002oiv.1_Silent_p.P504P|RYR1_uc010xuf.1_Silent_p.P509P	NM_000540	NP_000531	P21817	RYR1_HUMAN	skeletal muscle ryanodine receptor isoform 1	3589					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)	CCGATGACCCCGAGAAAATCG	0.652												
NFKBIB	4793	broad.mit.edu	37	19	39399383	39399383	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr19:39399383G>A	uc002ojw.2	+	6	1040	c.982G>A	c.(982-984)GAC>AAC	p.D328N	NFKBIB_uc002ojx.2_3'UTR|NFKBIB_uc002ojy.2_3'UTR	NM_002503	NP_002494	Q15653	IKBB_HUMAN	nuclear factor of kappa light polypeptide gene	328					innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription, DNA-dependent	cytosol|nucleus	protein binding|signal transducer activity|transcription coactivator activity			lung(1)|kidney(1)	2	all_cancers(60;4.39e-06)|Ovarian(47;0.0454)		Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)			TGAATACGACGACATTGTGGT	0.587												
IL28B	282617	broad.mit.edu	37	19	39735101	39735101	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr19:39735101G>A	uc010xut.1	-	2	218	c.214C>T	c.(214-216)CGC>TGC	p.R72C	IL28B_uc010xuu.1_Missense_Mutation_p.R72C	NM_172139	NP_742151	Q8IZI9	IL28B_HUMAN	interleukin 28B	72					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)			AGGCGGGAGCGGCACTTGCAG	0.637												
ZNF546	339327	broad.mit.edu	37	19	40520949	40520949	+	Missense_Mutation	SNP	G	G	C			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr19:40520949G>C	uc002oms.2	+	7	2028	c.1772G>C	c.(1771-1773)AGT>ACT	p.S591T	ZNF546_uc002omt.2_Missense_Mutation_p.S565T	NM_178544	NP_848639	Q86UE3	ZN546_HUMAN	zinc finger protein 546	591	C2H2-type 14.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|breast(1)|skin(1)	3	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					AAGATTTTTAGTCGTCGCTAT	0.353												
SNRPA	6626	broad.mit.edu	37	19	41265406	41265406	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr19:41265406G>A	uc002ooz.2	+	3	852	c.317G>A	c.(316-318)CGC>CAC	p.R106H	SNRPA_uc002opa.2_Missense_Mutation_p.R56H	NM_004596	NP_004587	P09012	SNRPA_HUMAN	small nuclear ribonucleoprotein polypeptide A	106						nucleoplasm|spliceosomal complex	nucleotide binding|protein binding|RNA binding			skin(2)|ovary(1)|central_nervous_system(1)	4			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			GAGCGGGACCGCAAGCGGGAG	0.552												
CYP2A7	1549	broad.mit.edu	37	19	41388023	41388023	+	Silent	SNP	C	C	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr19:41388023C>T	uc002opm.2	-	1	635	c.93G>A	c.(91-93)GGG>GGA	p.G31G	CYP2A7_uc002opo.2_Intron|CYP2A7_uc002opn.2_Silent_p.G31G	NM_000764	NP_000755	P20853	CP2A7_HUMAN	cytochrome P450, family 2, subfamily A,	31						endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			ovary(1)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	3			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			GAGGCAGCTTCCCCCTGCTCT	0.582												
MEGF8	1954	broad.mit.edu	37	19	42839311	42839311	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr19:42839311G>A	uc002otl.3	+	4	1318	c.683G>A	c.(682-684)CGT>CAT	p.R228H	MEGF8_uc002otm.3_5'Flank	NM_001410	NP_001401	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	228	Extracellular (Potential).					integral to membrane	calcium ion binding|structural molecule activity			ovary(1)	1		Prostate(69;0.00682)				TTCTCTGCCCGTATTGGGGCA	0.657												
CXCL17	284340	broad.mit.edu	37	19	42937210	42937210	+	Silent	SNP	C	C	T	rs151260095	byFrequency	TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr19:42937210C>T	uc002otu.2	-	3	332	c.180G>A	c.(178-180)CCG>CCA	p.P60P	uc010eif.1_Intron|uc002ott.1_Intron|uc010eig.1_Intron|uc010eih.1_Intron	NM_198477	NP_940879	Q6UXB2	VCC1_HUMAN	chemokine (C-X-C motif) ligand 17 precursor	60					angiogenesis|cell differentiation|chemotaxis	extracellular region					0		Prostate(69;0.00899)				ATTTTCTTCTCGGGGCTCTCA	0.453												
CEACAM1	634	broad.mit.edu	37	19	43015774	43015774	+	Silent	SNP	G	G	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr19:43015774G>A	uc002otv.2	-	7	1496	c.1383C>T	c.(1381-1383)AGC>AGT	p.S461S	uc010eif.1_Intron|uc002ott.1_Intron|uc010eig.1_Intron|uc010eih.1_Intron|CEACAM1_uc010eii.2_Intron|CEACAM1_uc002otw.2_Intron|CEACAM1_uc010eij.2_Intron|CEACAM1_uc002otx.2_Silent_p.S396S|CEACAM1_uc002oty.2_Silent_p.S365S|CEACAM1_uc002otz.2_Intron|CEACAM1_uc010eik.2_Silent_p.S187S	NM_001712	NP_001703	P13688	CEAM1_HUMAN	carcinoembryonic antigen-related cell adhesion	461	Cytoplasmic (Potential).				angiogenesis|cell migration|homophilic cell adhesion|integrin-mediated signaling pathway	extracellular region|integral to plasma membrane|membrane fraction				ovary(1)|central_nervous_system(1)	2		Prostate(69;0.00682)		GBM - Glioblastoma multiforme(486;0.00148)	Arcitumomab(DB00113)	CACGCTGGTCGCTTGCCCTAA	0.478												
ZNF227	7770	broad.mit.edu	37	19	44739572	44739572	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr19:44739572G>T	uc002oyu.2	+	6	1194	c.989G>T	c.(988-990)GGC>GTC	p.G330V	ZNF227_uc010xwu.1_Missense_Mutation_p.G279V|ZNF227_uc002oyv.2_Missense_Mutation_p.G330V|ZNF227_uc010xwv.1_Missense_Mutation_p.G279V|ZNF227_uc010xww.1_Missense_Mutation_p.G251V|ZNF227_uc002oyw.2_Missense_Mutation_p.G302V|ZNF227_uc010ejh.2_Missense_Mutation_p.G323V|ZNF235_uc002oyx.1_Intron	NM_182490	NP_872296	Q86WZ6	ZN227_HUMAN	zinc finger protein 227	330	C2H2-type 3.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Prostate(69;0.0435)				GACAGTTGCGGCAAGGGATTC	0.388												
ZNF296	162979	broad.mit.edu	37	19	45574990	45574990	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr19:45574990G>A	uc002pao.2	-	3	1354	c.1297C>T	c.(1297-1299)CGC>TGC	p.R433C		NM_145288	NP_660331	Q8WUU4	ZN296_HUMAN	zinc finger protein 296	433	C2H2-type 5.				regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						TGCATGCGGCGGTGGCGGTTG	0.672												
FOSB	2354	broad.mit.edu	37	19	45974040	45974040	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr19:45974040G>A	uc002pbx.3	+	2	872	c.280G>A	c.(280-282)GTC>ATC	p.V94I	ERCC1_uc002pbu.1_Intron|FOSB_uc002pbw.2_Missense_Mutation_p.V94I|FOSB_uc010eke.2_Missense_Mutation_p.V55I|FOSB_uc002pby.3_Missense_Mutation_p.V94I|FOSB_uc010eka.1_Missense_Mutation_p.V55I|FOSB_uc010ekb.1_Missense_Mutation_p.V94I|FOSB_uc010ekc.1_Intron|FOSB_uc010ekf.2_Missense_Mutation_p.V55I|FOSB_uc010ekd.1_Missense_Mutation_p.V94I|FOSB_uc010ekg.2_Intron|FOSB_uc002pca.3_Missense_Mutation_p.V45I	NM_006732	NP_006723	P53539	FOSB_HUMAN	FBJ murine osteosarcoma viral oncogene homolog B	94					behavior|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			ovary(2)|lung(1)	3		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00814)|Epithelial(262;0.18)|GBM - Glioblastoma multiforme(486;0.242)		GCCCCCGGTCGTCGACCCCTA	0.657												
KPTN	11133	broad.mit.edu	37	19	47984241	47984241	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr19:47984241C>T	uc002pgy.2	-	5	603	c.499G>A	c.(499-501)GAC>AAC	p.D167N	KPTN_uc010xys.1_RNA	NM_007059	NP_008990	Q9Y664	KPTN_HUMAN	kaptin (actin binding protein)	167					actin filament organization|cellular component movement|sensory perception of sound	actin cytoskeleton|growth cone|microtubule organizing center|nucleus|perinuclear region of cytoplasm|stereocilium	actin binding			ovary(1)	1		all_cancers(25;1.55e-10)|all_epithelial(76;3.4e-08)|all_lung(116;1.73e-07)|Lung NSC(112;3.95e-07)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		OV - Ovarian serous cystadenocarcinoma(262;0.000428)|all cancers(93;0.000631)|Epithelial(262;0.0153)|GBM - Glioblastoma multiforme(486;0.0694)		ATGGCCGGGTCGTTCCCACTC	0.562												
CRX	1406	broad.mit.edu	37	19	48343102	48343102	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr19:48343102G>A	uc002phq.3	+	4	982	c.778G>A	c.(778-780)GCC>ACC	p.A260T		NM_000554	NP_000545	O43186	CRX_HUMAN	cone-rod homeobox protein	260					organ morphogenesis|response to stimulus|visual perception		leucine zipper domain binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)	2		all_cancers(25;2.76e-09)|all_epithelial(76;7.01e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133)		OV - Ovarian serous cystadenocarcinoma(262;0.000266)|all cancers(93;0.000788)|Epithelial(262;0.0226)|GBM - Glioblastoma multiforme(486;0.0521)		GAGCTATGGCGCCTACAGCCC	0.632												
TMEM143	55260	broad.mit.edu	37	19	48845798	48845798	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr19:48845798G>A	uc002pix.1	-	6	973	c.964C>T	c.(964-966)CGG>TGG	p.R322W	TMEM143_uc002piw.1_Intron|TMEM143_uc002piy.1_Missense_Mutation_p.R287W|TMEM143_uc010xzn.1_Missense_Mutation_p.R257W|TMEM143_uc010elw.1_Missense_Mutation_p.R222W|TMEM143_uc010xzo.1_Missense_Mutation_p.R112W	NM_018273	NP_060743	Q96AN5	TM143_HUMAN	transmembrane protein 143	322						integral to membrane|mitochondrion					0		all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000149)|all cancers(93;0.000198)|Epithelial(262;0.0151)|GBM - Glioblastoma multiforme(486;0.0157)		TTGGAGGCCCGCAGGCCCATG	0.637												
TEAD2	8463	broad.mit.edu	37	19	49863216	49863216	+	Silent	SNP	C	C	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr19:49863216C>T	uc002pnj.2	-	2	208	c.117G>A	c.(115-117)CCG>CCA	p.P39P	TEAD2_uc002png.2_Silent_p.P39P|TEAD2_uc002pnh.2_Silent_p.P39P|TEAD2_uc002pni.2_Silent_p.P39P|TEAD2_uc010yao.1_Intron|TEAD2_uc010emw.2_Silent_p.P39P	NM_003598	NP_003589	Q15562	TEAD2_HUMAN	TEA domain family member 2	39					hippo signaling cascade		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(2)|ovary(1)	3		all_lung(116;7.65e-05)|Lung NSC(112;0.000132)|all_neural(266;0.0506)|Ovarian(192;0.15)		OV - Ovarian serous cystadenocarcinoma(262;0.00093)|GBM - Glioblastoma multiforme(486;0.0467)		CCTCTGCATCCGGGCCCCCGT	0.667												
SIGLEC9	27180	broad.mit.edu	37	19	51631709	51631709	+	Missense_Mutation	SNP	C	C	T	rs61739656	byFrequency	TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr19:51631709C>T	uc002pvu.2	+	6	1212	c.1145C>T	c.(1144-1146)GCG>GTG	p.A382V	SIGLEC9_uc010yct.1_Missense_Mutation_p.A382V	NM_014441	NP_055256	Q9Y336	SIGL9_HUMAN	sialic acid binding Ig-like lectin 9 precursor	382	Cytoplasmic (Potential).				cell adhesion|cell surface receptor linked signaling pathway	integral to plasma membrane	sugar binding			skin(1)	1		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295)		AGGCCAGCAGCGGGCGTGGGA	0.587												
ZNF600	162966	broad.mit.edu	37	19	53269380	53269380	+	Silent	SNP	G	G	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr19:53269380G>A	uc002qab.3	-	3	1915	c.1629C>T	c.(1627-1629)TGC>TGT	p.C543C		NM_198457	NP_940859	Q6ZNG1	ZN600_HUMAN	zinc finger protein 600	543	C2H2-type 14.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0				OV - Ovarian serous cystadenocarcinoma(262;0.0241)|GBM - Glioblastoma multiforme(134;0.0404)		GTCTACGATGGCAATGAAGGT	0.453												
CACNG6	59285	broad.mit.edu	37	19	54515275	54515275	+	Silent	SNP	G	G	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr19:54515275G>A	uc002qct.2	+	4	1205	c.615G>A	c.(613-615)CCG>CCA	p.P205P	CACNG6_uc002qcu.2_Silent_p.P159P|CACNG6_uc002qcv.2_Silent_p.P134P	NM_145814	NP_665813	Q9BXT2	CCG6_HUMAN	voltage-dependent calcium channel gamma-6	205						voltage-gated calcium channel complex	voltage-gated calcium channel activity			ovary(2)	2	all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.168)		GAGTCAGCCCGGAGCCTCCCC	0.692												
NLRP7	199713	broad.mit.edu	37	19	55450708	55450708	+	Silent	SNP	G	G	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr19:55450708G>A	uc002qih.3	-	4	1555	c.1479C>T	c.(1477-1479)CAC>CAT	p.H493H	NLRP7_uc002qig.3_Silent_p.H493H|NLRP7_uc002qii.3_Silent_p.H493H|NLRP7_uc010esk.2_Silent_p.H493H|NLRP7_uc010esl.2_Silent_p.H521H	NM_206828	NP_996611	Q8WX94	NALP7_HUMAN	NACHT, leucine rich repeat and PYD containing 7	493							ATP binding			large_intestine(1)|breast(1)|central_nervous_system(1)	3				GBM - Glioblastoma multiforme(193;0.0325)		TGTCCCAGGCGTGGCCGTCCC	0.567												
NLRP4	147945	broad.mit.edu	37	19	56392902	56392902	+	Silent	SNP	T	T	G			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr19:56392902T>G	uc002qmd.3	+	10	3356	c.2934T>G	c.(2932-2934)CCT>CCG	p.P978P	NLRP4_uc002qmf.2_Silent_p.P903P|NLRP4_uc010etf.2_Silent_p.P753P	NM_134444	NP_604393	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	978							ATP binding			ovary(5)|skin(4)|lung(3)|upper_aerodigestive_tract(1)|kidney(1)|pancreas(1)	15		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		AGAGAAATCCTAACCTGACCA	0.448												
TMEM18	129787	broad.mit.edu	37	2	675560	675560	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr2:675560C>T	uc002qwl.2	-	2	222	c.128G>A	c.(127-129)TGC>TAC	p.C43Y	TMEM18_uc002qwk.2_RNA|uc002qwm.1_5'Flank	NM_152834	NP_690047	Q96B42	TMM18_HUMAN	transmembrane protein 18	43	Helical; (Potential).				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)		GGAGGACAAGCAGGTGAGGAG	0.542												
SOX11	6664	broad.mit.edu	37	2	5833022	5833022	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr2:5833022A>G	uc002qyj.2	+	1	224	c.169A>G	c.(169-171)ATG>GTG	p.M57V		NM_003108	NP_003099	P35716	SOX11_HUMAN	SRY-box 11	57	HMG box.				cardiac ventricle formation|closure of optic fissure|cornea development in camera-type eye|embryonic digestive tract morphogenesis|embryonic skeletal system morphogenesis|eyelid development in camera-type eye|glial cell proliferation|hard palate development|lens morphogenesis in camera-type eye|limb bud formation|lung morphogenesis|negative regulation of cell death|negative regulation of glial cell proliferation|negative regulation of lymphocyte proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription regulatory region DNA binding|neural crest cell development|neural tube formation|neuroepithelial cell differentiation|noradrenergic neuron differentiation|outflow tract morphogenesis|positive regulation of BMP signaling pathway|positive regulation of hippo signaling cascade|positive regulation of hormone secretion|positive regulation of neurogenesis|positive regulation of neuron differentiation|positive regulation of ossification|positive regulation of osteoblast differentiation|positive regulation of stem cell proliferation|regulation of transforming growth factor beta receptor signaling pathway|signal transduction involved in G1/S transition checkpoint|soft palate development|somite development|spinal cord development|sympathetic nervous system development|ventricular septum morphogenesis	cytoplasm|nucleolus	enhancer sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|RNA polymerase II transcription coactivator activity|translation factor activity, nucleic acid binding			central_nervous_system(3)	3	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			OV - Ovarian serous cystadenocarcinoma(76;0.132)		GAACGCGTTCATGGTATGGTC	0.602												
GRHL1	29841	broad.mit.edu	37	2	10140759	10140759	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr2:10140759A>G	uc002raa.2	+	16	1952	c.1781A>G	c.(1780-1782)TAC>TGC	p.Y594C	GRHL1_uc002rab.2_RNA|GRHL1_uc002rad.2_Missense_Mutation_p.Y405C|GRHL1_uc010yjb.1_Missense_Mutation_p.Y443C	NM_198182	NP_937825	Q9NZI5	GRHL1_HUMAN	grainyhead-like 1	594					cellular lipid metabolic process|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Golgi apparatus|nucleus	DNA binding			pancreas(1)|skin(1)	2	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.172)|OV - Ovarian serous cystadenocarcinoma(76;0.246)		GTGAAGCATTACTCCAATGAG	0.512												
GREB1	9687	broad.mit.edu	37	2	11750919	11750919	+	Silent	SNP	G	G	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr2:11750919G>A	uc002rbk.1	+	18	3072	c.2772G>A	c.(2770-2772)ACG>ACA	p.T924T	GREB1_uc002rbo.1_Silent_p.T558T|GREB1_uc002rbp.1_5'Flank	NM_014668	NP_055483	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	924						integral to membrane				ovary(1)	1	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		AGAACTACACGTCGGTGGAGA	0.657												
MATN3	4148	broad.mit.edu	37	2	20194089	20194089	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr2:20194089C>A	uc002rdl.2	-	7	1439	c.1376G>T	c.(1375-1377)AGC>ATC	p.S459I	MATN3_uc010exu.1_Missense_Mutation_p.S417I	NM_002381	NP_002372	O15232	MATN3_HUMAN	matrilin 3 precursor	459	By similarity.				skeletal system development	proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding				0	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AAGATACGAGCTGACCTTGTC	0.463												
MFSD2B	388931	broad.mit.edu	37	2	24247037	24247037	+	Silent	SNP	C	C	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr2:24247037C>T	uc002reo.1	+	13	1400	c.1386C>T	c.(1384-1386)GGC>GGT	p.G462G		NM_001080473	NP_001073942	A6NFX1	MFS2B_HUMAN	major facilitator superfamily domain containing	462	Helical; (Potential).				transport	integral to membrane				ovary(2)	2						TCCTCATTGGCGCCGTGCCCA	0.607												
ITSN2	50618	broad.mit.edu	37	2	24483988	24483988	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr2:24483988G>T	uc002rfe.2	-	22	2927	c.2669C>A	c.(2668-2670)CCT>CAT	p.P890H	ITSN2_uc002rff.2_Missense_Mutation_p.P863H|ITSN2_uc002rfg.2_Missense_Mutation_p.P890H	NM_006277	NP_006268	Q9NZM3	ITSN2_HUMAN	intersectin 2 isoform 1	890					endocytosis|regulation of Rho protein signal transduction	cytoplasm	calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			kidney(2)|ovary(1)|central_nervous_system(1)	4	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCCATGAATAGGTGATACAGA	0.338												
OTOF	9381	broad.mit.edu	37	2	26683555	26683555	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr2:26683555C>A	uc002rhk.2	-	45	5900	c.5773G>T	c.(5773-5775)GGC>TGC	p.G1925C	OTOF_uc010yla.1_Missense_Mutation_p.G655C|OTOF_uc002rhh.2_Missense_Mutation_p.G1158C|OTOF_uc002rhi.2_Missense_Mutation_p.G1235C|OTOF_uc002rhj.2_Missense_Mutation_p.G1158C	NM_194248	NP_919224	Q9HC10	OTOF_HUMAN	otoferlin isoform a	1925	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)					CGGGCCAGGCCCACTGGGTTC	0.637												
IFT172	26160	broad.mit.edu	37	2	27683894	27683894	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr2:27683894C>T	uc002rku.2	-	23	2560	c.2509G>A	c.(2509-2511)GCA>ACA	p.A837T		NM_015662	NP_056477	Q9UG01	IF172_HUMAN	selective LIM binding factor homolog	837	TPR 3.				cilium assembly	cilium	binding			large_intestine(1)|ovary(1)	2	Acute lymphoblastic leukemia(172;0.155)					TTCATGAATGCGTTGCCTTTA	0.428												
XDH	7498	broad.mit.edu	37	2	31560626	31560626	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr2:31560626C>T	uc002rnv.1	-	35	3911	c.3832G>A	c.(3832-3834)GCC>ACC	p.A1278T		NM_000379	NP_000370	P47989	XDH_HUMAN	xanthine dehydrogenase	1278					purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity			skin(4)|breast(2)|ovary(1)|central_nervous_system(1)	8	Acute lymphoblastic leukemia(172;0.155)				Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)	GCACGGATGGCATCTTTGATG	0.587												
LTBP1	4052	broad.mit.edu	37	2	33623607	33623607	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr2:33623607G>A	uc002ros.2	+	34	5164	c.5164G>A	c.(5164-5166)GAG>AAG	p.E1722K	LTBP1_uc002rot.2_Missense_Mutation_p.E1396K|LTBP1_uc002rou.2_Missense_Mutation_p.E1395K|LTBP1_uc002rov.2_Missense_Mutation_p.E1342K|LTBP1_uc010ymz.1_Missense_Mutation_p.E1353K|LTBP1_uc010yna.1_Missense_Mutation_p.E1300K|LTBP1_uc010ynb.1_Missense_Mutation_p.E619K	NM_206943	NP_996826	Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding	1721					negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity			ovary(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|central_nervous_system(1)	8	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				CAGTGACCTGGAGTGAAACAG	0.443												
CRIM1	51232	broad.mit.edu	37	2	36740836	36740836	+	Silent	SNP	C	C	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr2:36740836C>T	uc002rpd.2	+	11	1957	c.1918C>T	c.(1918-1920)CTG>TTG	p.L640L		NM_016441	NP_057525	Q9NZV1	CRIM1_HUMAN	cysteine-rich motor neuron 1 precursor	640	VWFC 3.|Extracellular (Potential).				nervous system development|regulation of cell growth	extracellular region|integral to membrane|plasma membrane	insulin-like growth factor binding|insulin-like growth factor receptor activity|serine-type endopeptidase inhibitor activity			ovary(2)|skin(1)	3		all_hematologic(82;0.131)|Acute lymphoblastic leukemia(82;0.154)				AATGTGTGCCCTGATCACCTG	0.532												
SIX3	6496	broad.mit.edu	37	2	45169338	45169338	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr2:45169338G>A	uc002run.1	+	1	302	c.95G>A	c.(94-96)AGC>AAC	p.S32N		NM_005413	NP_005404	O95343	SIX3_HUMAN	SIX homeobox 3	32					visual perception	nucleus					0		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				CTGGCGAGTAgcggcggcggg	0.269												
MSH2	4436	broad.mit.edu	37	2	47705414	47705414	+	Silent	SNP	T	T	C			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr2:47705414T>C	uc002rvy.1	+	14	2282	c.2214T>C	c.(2212-2214)TCT>TCC	p.S738S	MSH2_uc010yoh.1_Silent_p.S672S|MSH2_uc002rvz.2_Silent_p.S738S|MSH2_uc010fbg.2_Silent_p.S548S	NM_000251	NP_000242	P43246	MSH2_HUMAN	mutS homolog 2	738					B cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|double-strand break repair|intra-S DNA damage checkpoint|isotype switching|maintenance of DNA repeat elements|male gonad development|meiotic gene conversion|meiotic mismatch repair|negative regulation of neuron apoptosis|negative regulation of reciprocal meiotic recombination|positive regulation of helicase activity|postreplication repair|response to UV-B|response to X-ray|somatic hypermutation of immunoglobulin genes	MutSalpha complex|MutSbeta complex|nuclear chromosome	ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|guanine/thymine mispair binding|loop DNA binding|protein C-terminus binding|protein homodimerization activity|protein kinase binding|Y-form DNA binding	p.?(2)		large_intestine(33)|haematopoietic_and_lymphoid_tissue(6)|endometrium(4)|ovary(3)|cervix(2)|central_nervous_system(2)|stomach(1)|small_intestine(1)|breast(1)|skin(1)|prostate(1)	55		all_hematologic(82;0.0359)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			GCTTCAGGTCTGCAACCAAAG	0.343			D|Mis|N|F|S		colorectal|endometrial|ovarian	colorectal|endometrial|ovarian		MMR	Lynch_syndrome|Muir-Torre_syndrome|Turcot_syndrome|Constitutional_Mismatch_Repair_Deficiency_Syndrome			
RTN4	57142	broad.mit.edu	37	2	55252334	55252334	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr2:55252334T>C	uc002rye.2	-	3	3199	c.2901A>G	c.(2899-2901)ATA>ATG	p.I967M	RTN4_uc002ryd.2_Missense_Mutation_p.I761M|RTN4_uc002ryf.2_Intron|RTN4_uc002ryg.2_Intron	NM_020532	NP_065393	Q9NQC3	RTN4_HUMAN	reticulon 4 isoform A	967	Cytoplasmic (Potential).				apoptosis|axonal fasciculation|cerebral cortex radial glia guided migration|endoplasmic reticulum tubular network organization|negative regulation of anti-apoptosis|negative regulation of axon extension|nerve growth factor receptor signaling pathway|regulation of apoptosis|regulation of branching morphogenesis of a nerve|regulation of cell migration	integral to endoplasmic reticulum membrane|nuclear envelope|plasma membrane	protein binding			ovary(2)|large_intestine(1)	3						TGGGTTTAACTATGCTCTCTA	0.408												
PELI1	57162	broad.mit.edu	37	2	64322041	64322041	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr2:64322041G>A	uc002scs.3	-	6	5091	c.1052C>T	c.(1051-1053)GCT>GTT	p.A351V	PELI1_uc002sct.3_Missense_Mutation_p.A351V|PELI1_uc002scr.3_Missense_Mutation_p.A172V	NM_020651	NP_065702	Q96FA3	PELI1_HUMAN	pellino protein	351					innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol				ovary(1)	1						ATAAAATCCAGCTTCACATCC	0.493												
CEP68	23177	broad.mit.edu	37	2	65296924	65296924	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr2:65296924G>A	uc002sdl.3	+	2	560	c.346G>A	c.(346-348)GGG>AGG	p.G116R	CEP68_uc002sdj.2_Missense_Mutation_p.G116R|CEP68_uc010yqb.1_Missense_Mutation_p.G116R|CEP68_uc002sdk.3_Missense_Mutation_p.G116R|CEP68_uc010yqc.1_Missense_Mutation_p.G116R|CEP68_uc010yqd.1_Missense_Mutation_p.G116R	NM_015147	NP_055962	Q76N32	CEP68_HUMAN	centrosomal protein 68kDa	116					centrosome organization	centrosome				skin(1)	1						TCTGCTCTCCGGGGAAAGCCA	0.557												
PCBP1	5093	broad.mit.edu	37	2	70315822	70315822	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr2:70315822C>T	uc002sgf.2	+	1	1238	c.947C>T	c.(946-948)GCC>GTC	p.A316V	ASPRV1_uc002sga.2_5'Flank|uc002sgb.1_5'Flank|uc002sgd.2_5'Flank|uc002sge.1_5'Flank	NM_006196	NP_006187	Q15365	PCBP1_HUMAN	poly(rC) binding protein 1	316	KH 3.				nuclear mRNA splicing, via spliceosome	cytoplasm|nucleoplasm|ribonucleoprotein complex	protein binding|RNA binding|single-stranded DNA binding				0						ATCAAAATTGCCAACCCAGTG	0.507												
ATP6V1B1	525	broad.mit.edu	37	2	71189997	71189997	+	Silent	SNP	G	G	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr2:71189997G>A	uc002shj.2	+	9	963	c.876G>A	c.(874-876)ACG>ACA	p.T292T	ATP6V1B1_uc010fdv.2_Silent_p.T292T|ATP6V1B1_uc010fdw.2_RNA|ATP6V1B1_uc010fdx.2_Silent_p.T250T	NM_001692	NP_001683	P15313	VATB1_HUMAN	ATPase, H+ transporting, lysosomal 56/58kDa, V1	292					ATP hydrolysis coupled proton transport|calcium ion homeostasis|cellular iron ion homeostasis|excretion|inner ear morphogenesis|insulin receptor signaling pathway|ossification|pH reduction|sensory perception of sound|transferrin transport	apical plasma membrane|basolateral plasma membrane|cytosol|endomembrane system|lateral plasma membrane|microvillus|proton-transporting V-type ATPase, V1 domain|vacuolar proton-transporting V-type ATPase complex	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism			skin(1)	1						TCATACTGACGGACATGAGTT	0.587												
EMX1	2016	broad.mit.edu	37	2	73160979	73160979	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr2:73160979C>T	uc002sin.1	+	3	1147	c.769C>T	c.(769-771)CCT>TCT	p.P257S	EMX1_uc002sim.1_Missense_Mutation_p.A209V	NM_004097	NP_004088	Q04741	EMX1_HUMAN	empty spiracles homolog 1	224						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0						GGAGGAAGGGCCTGAGTCCGA	0.577												
CAPG	822	broad.mit.edu	37	2	85628347	85628347	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr2:85628347G>A	uc002spl.1	-	5	707	c.457C>T	c.(457-459)CGG>TGG	p.R153W	CAPG_uc002spm.1_Missense_Mutation_p.R153W|CAPG_uc010ysq.1_Missense_Mutation_p.R153W|CAPG_uc010fgi.1_Missense_Mutation_p.R153W|CAPG_uc010fgj.1_Missense_Mutation_p.R47W	NM_001747	NP_001738	P40121	CAPG_HUMAN	gelsolin-like capping protein	153	Gelsolin-like 2.				barbed-end actin filament capping|protein complex assembly	F-actin capping protein complex|melanosome|nuclear membrane|nucleolus	actin binding				0						TTCAGTGCCCGCTCGGTGGCA	0.582												
EIF2AK3	9451	broad.mit.edu	37	2	88890059	88890059	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr2:88890059A>T	uc002stc.3	-	6	1269	c.1067T>A	c.(1066-1068)TTT>TAT	p.F356Y		NM_004836	NP_004827	Q9NZJ5	E2AK3_HUMAN	eukaryotic translation initiation factor 2-alpha	356	Lumenal (Potential).				activation of caspase activity|bone mineralization|calcium-mediated signaling|chondrocyte development|endocrine pancreas development|endoplasmic reticulum organization|endoplasmic reticulum unfolded protein response|ER overload response|insulin secretion|insulin-like growth factor receptor signaling pathway|negative regulation of myelination|negative regulation of translational initiation in response to stress|protein autophosphorylation|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|identical protein binding			ovary(3)	3						TGTATCATCAAAAAGACTGAT	0.353												
ASTL	431705	broad.mit.edu	37	2	96789597	96789597	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr2:96789597C>T	uc010yui.1	-	9	1288	c.1288G>A	c.(1288-1290)GAA>AAA	p.E430K		NM_001002036	NP_001002036	Q6HA08	ASTL_HUMAN	astacin-like metalloendopeptidase precursor	430					proteolysis		metalloendopeptidase activity|zinc ion binding				0						GCTTAATCTTCGGACATCCCC	0.572												
SNRNP200	23020	broad.mit.edu	37	2	96945296	96945296	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr2:96945296A>G	uc002svu.2	-	36	5112	c.5026T>C	c.(5026-5028)TAT>CAT	p.Y1676H	SNRNP200_uc002svt.2_Missense_Mutation_p.Y286H|SNRNP200_uc010yuj.1_RNA	NM_014014	NP_054733	O75643	U520_HUMAN	activating signal cointegrator 1 complex subunit	1676	Helicase C-terminal 2.					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						TAATCCACATAGCTGGTGACA	0.532												
ANKRD39	51239	broad.mit.edu	37	2	97514112	97514112	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr2:97514112G>A	uc002sxd.3	-	4	510	c.478C>T	c.(478-480)CGG>TGG	p.R160W		NM_016466	NP_057550	Q53RE8	ANR39_HUMAN	ankyrin repeat domain 39	160											0						TTTCGGTCCCGGATGGCCTTC	0.617												
TSGA10	80705	broad.mit.edu	37	2	99688288	99688288	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr2:99688288G>A	uc002szg.3	-	12	1616	c.988C>T	c.(988-990)CGT>TGT	p.R330C	TSGA10_uc002szh.3_Missense_Mutation_p.R330C|TSGA10_uc002szi.3_Missense_Mutation_p.R330C|TSGA10_uc010fin.1_Missense_Mutation_p.R330C|TSGA10_uc010yvn.1_3'UTR	NM_182911	NP_878915	Q9BZW7	TSG10_HUMAN	testis specific, 10	330					spermatogenesis	cytoplasm|nuclear membrane				ovary(1)|central_nervous_system(1)	2						AATTGCCGACGCATTCTGGAA	0.428												
LIMS1	3987	broad.mit.edu	37	2	109300406	109300406	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr2:109300406A>C	uc002teg.2	+	10	1048	c.929A>C	c.(928-930)GAG>GCG	p.E310A	LIMS1_uc002tef.2_Missense_Mutation_p.E322A|LIMS1_uc002teh.2_Missense_Mutation_p.E310A|LIMS1_uc002tei.2_Missense_Mutation_p.E310A|LIMS1_uc002tej.2_Missense_Mutation_p.E347A|LIMS1_uc002tek.3_Missense_Mutation_p.E372A|uc002tel.2_5'Flank	NM_004987	NP_004978	P48059	LIMS1_HUMAN	LIM and senescent cell antigen-like domains 1	310					cell aging|cell junction assembly|cellular response to transforming growth factor beta stimulus|negative regulation of transcription, DNA-dependent	cytosol|focal adhesion|perinuclear region of cytoplasm	protein binding|zinc ion binding				0						TTTCCATTGGAGCTGAAGAAA	0.313												
PTPN4	5775	broad.mit.edu	37	2	120677688	120677688	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr2:120677688A>G	uc002tmf.1	+	12	1643	c.872A>G	c.(871-873)TAC>TGC	p.Y291C	PTPN4_uc010flj.1_Missense_Mutation_p.Y4C	NM_002830	NP_002821	P29074	PTN4_HUMAN	protein tyrosine phosphatase, non-receptor type	291	FERM.					cytoplasm|cytoskeleton|internal side of plasma membrane	cytoskeletal protein binding|non-membrane spanning protein tyrosine phosphatase activity			ovary(2)	2					Alendronate(DB00630)	ATGGTGAATTACAGAGCATGT	0.348												
PTPN18	26469	broad.mit.edu	37	2	131116512	131116512	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr2:131116512A>G	uc002trc.2	+	2	267	c.166A>G	c.(166-168)AAC>GAC	p.N56D	PTPN18_uc002trd.2_Missense_Mutation_p.N56D|PTPN18_uc002trb.2_Intron	NM_014369	NP_055184	Q99952	PTN18_HUMAN	protein tyrosine phosphatase, non-receptor type	56	Tyrosine-protein phosphatase.					cytoplasm|nucleus	non-membrane spanning protein tyrosine phosphatase activity			ovary(3)|kidney(1)	4	Colorectal(110;0.1)					TCGGCCAGAGAACGTGAGGAA	0.642												
GPR39	2863	broad.mit.edu	37	2	133402818	133402818	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr2:133402818A>G	uc002ttl.2	+	2	1470	c.1001A>G	c.(1000-1002)TAC>TGC	p.Y334C	LYPD1_uc002ttm.3_3'UTR|LYPD1_uc002ttn.2_3'UTR|LYPD1_uc002tto.2_3'UTR	NM_001508	NP_001499	O43194	GPR39_HUMAN	G protein-coupled receptor 39	334	Helical; Name=7; (Potential).					integral to plasma membrane	G-protein coupled receptor activity|metal ion binding				0						ACGTTTTTCTACCTCAGCTCG	0.607												
LRP1B	53353	broad.mit.edu	37	2	141816614	141816614	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr2:141816614G>T	uc002tvj.1	-	9	2218	c.1246C>A	c.(1246-1248)CTT>ATT	p.L416I	LRP1B_uc010fnl.1_Intron	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	416	Extracellular (Potential).|LDL-receptor class B 4.				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)		ATACCATAAAGATGTCTAACC	0.299										TSP Lung(27;0.18)		
FMNL2	114793	broad.mit.edu	37	2	153399319	153399319	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr2:153399319G>A	uc002tye.2	+	3	635	c.268G>A	c.(268-270)GCT>ACT	p.A90T		NM_052905	NP_443137	Q96PY5	FMNL2_HUMAN	formin-like 2	90	GBD/FH3.				actin cytoskeleton organization	cytoplasm	actin binding|Rho GTPase binding			central_nervous_system(2)|ovary(1)	3						TCTGGATCCAGCTGTAACCAG	0.443												
TANC1	85461	broad.mit.edu	37	2	160027037	160027037	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr2:160027037C>T	uc002uag.2	+	10	1346	c.1072C>T	c.(1072-1074)CGA>TGA	p.R358*	TANC1_uc010fol.1_Nonsense_Mutation_p.R252*|TANC1_uc010zcm.1_Nonsense_Mutation_p.R350*|TANC1_uc010fom.1_Nonsense_Mutation_p.R164*	NM_033394	NP_203752	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and	358						cell junction|postsynaptic density|postsynaptic membrane	binding			ovary(2)|central_nervous_system(1)	3						TTTTGAAGCACGATTTGCTCC	0.333												
CSRNP3	80034	broad.mit.edu	37	2	166535659	166535659	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr2:166535659A>G	uc002udf.2	+	7	1530	c.1154A>G	c.(1153-1155)GAC>GGC	p.D385G	CSRNP3_uc002udg.2_Missense_Mutation_p.D385G	NM_024969	NP_079245	Q8WYN3	CSRN3_HUMAN	cysteine-serine-rich nuclear protein 3	385					apoptosis|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(3)|large_intestine(1)|skin(1)	5						gaggaggaTGACGATGATGAC	0.403												
XIRP2	129446	broad.mit.edu	37	2	168102239	168102239	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr2:168102239A>C	uc002udx.2	+	8	4355	c.4337A>C	c.(4336-4338)AAG>ACG	p.K1446T	XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.K1271T|XIRP2_uc010fpq.2_Missense_Mutation_p.K1224T|XIRP2_uc010fpr.2_Intron|XIRP2_uc010fps.1_5'Flank	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2 isoform 1	1271					actin cytoskeleton organization	cell junction	actin binding			skin(7)|ovary(6)|pancreas(1)	14						GAAATACAAAAGGGCAATGTT	0.338												
XIRP2	129446	broad.mit.edu	37	2	168102522	168102522	+	Silent	SNP	T	T	C			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr2:168102522T>C	uc002udx.2	+	8	4638	c.4620T>C	c.(4618-4620)ACT>ACC	p.T1540T	XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Silent_p.T1365T|XIRP2_uc010fpq.2_Silent_p.T1318T|XIRP2_uc010fpr.2_Intron|XIRP2_uc010fps.1_5'Flank	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2 isoform 1	1365					actin cytoskeleton organization	cell junction	actin binding			skin(7)|ovary(6)|pancreas(1)	14						TTAATGAAACTAGAGTAGAAA	0.358												
MYO3B	140469	broad.mit.edu	37	2	171376034	171376034	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr2:171376034G>A	uc002ufy.2	+	30	3702	c.3559G>A	c.(3559-3561)GTC>ATC	p.V1187I	MYO3B_uc002ufv.2_Missense_Mutation_p.V1174I|MYO3B_uc010fqb.1_Missense_Mutation_p.V1174I|MYO3B_uc002ufz.2_Missense_Mutation_p.V1160I|MYO3B_uc002ufw.2_RNA|MYO3B_uc002ufx.2_RNA|MYO3B_uc002ugb.2_RNA	NM_138995	NP_620482	Q8WXR4	MYO3B_HUMAN	myosin IIIB isoform 2	1187					response to stimulus|visual perception	cytoplasm|myosin complex	actin binding|ATP binding|motor activity|protein serine/threonine kinase activity			lung(8)|ovary(6)|skin(4)|central_nervous_system(1)	19						CTCTCCTGCTGTCACAGAGAA	0.433												
RAPGEF4	11069	broad.mit.edu	37	2	173852994	173852994	+	Silent	SNP	C	C	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr2:173852994C>T	uc002uhv.3	+	13	1408	c.1221C>T	c.(1219-1221)TAC>TAT	p.Y407Y	RAPGEF4_uc002uhw.3_Silent_p.Y263Y|RAPGEF4_uc010zec.1_Silent_p.Y254Y|RAPGEF4_uc010zed.1_Silent_p.Y236Y|RAPGEF4_uc010zee.1_Silent_p.Y254Y|RAPGEF4_uc010fqo.2_Silent_p.Y236Y|RAPGEF4_uc010zef.1_Silent_p.Y187Y|RAPGEF4_uc010zeg.1_Silent_p.Y234Y|RAPGEF4_uc010fqp.1_Silent_p.Y187Y|RAPGEF4_uc010zeh.1_Silent_p.Y187Y	NM_007023	NP_008954	Q8WZA2	RPGF4_HUMAN	Rap guanine nucleotide exchange factor (GEF) 4	407	cAMP 2.				blood coagulation|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|regulation of insulin secretion|regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cAMP-dependent protein kinase complex|membrane fraction|plasma membrane	cAMP binding|cAMP-dependent protein kinase regulator activity|Ras GTPase binding|Ras guanyl-nucleotide exchange factor activity			large_intestine(2)|skin(2)|kidney(1)|central_nervous_system(1)	6			OV - Ovarian serous cystadenocarcinoma(117;0.194)			TAGTCATTTACGGCAAGGTAT	0.348												
CDCA7	83879	broad.mit.edu	37	2	174228609	174228609	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr2:174228609C>A	uc002uid.1	+	4	579	c.448C>A	c.(448-450)CCA>ACA	p.P150T	CDCA7_uc002uic.1_Missense_Mutation_p.P229T|CDCA7_uc010zej.1_Missense_Mutation_p.P185T|CDCA7_uc010zek.1_Missense_Mutation_p.P108T	NM_145810	NP_665809	Q9BWT1	CDCA7_HUMAN	cell division cycle associated 7 isoform 2	150					regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				ovary(1)	1			OV - Ovarian serous cystadenocarcinoma(117;0.116)			ACATCCCCTCCCAGGCTCCGA	0.403												
HOXD11	3237	broad.mit.edu	37	2	176972255	176972255	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr2:176972255G>A	uc002uki.2	+	1	172	c.172G>A	c.(172-174)GTG>ATG	p.V58M	HOXD11_uc010fqx.2_Intron	NM_021192	NP_067015	P31277	HXD11_HUMAN	homeobox D11	58						nucleus	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)		CGTCCAGCCCGTGCGCGAAGT	0.493			T	NUP98	AML							
TTC30A	92104	broad.mit.edu	37	2	178481542	178481542	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr2:178481542T>C	uc002ulo.2	-	1	2153	c.1888A>G	c.(1888-1890)ATT>GTT	p.I630V		NM_152275	NP_689488	Q86WT1	TT30A_HUMAN	tetratricopeptide repeat domain 30A	630					cell projection organization	cilium	binding				0			OV - Ovarian serous cystadenocarcinoma(117;0.000423)|Epithelial(96;0.00373)|all cancers(119;0.0169)			GGTTGTTCAATAACAGCAGGT	0.373												
TTN	7273	broad.mit.edu	37	2	179396464	179396464	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr2:179396464G>A	uc010zfg.1	-	307	97398	c.97174C>T	c.(97174-97176)CGT>TGT	p.R32392C	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.R26087C|TTN_uc010zfi.1_Missense_Mutation_p.R26020C|TTN_uc010zfj.1_Missense_Mutation_p.R25895C|TTN_uc002umq.2_5'Flank	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	33319							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)			AAAATAAAACGTGTATTTTGG	0.448												
TTN	7273	broad.mit.edu	37	2	179474047	179474047	+	Silent	SNP	T	T	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr2:179474047T>A	uc010zfg.1	-	222	44510	c.44286A>T	c.(44284-44286)GGA>GGT	p.G14762G	uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.G8457G|TTN_uc010zfi.1_Silent_p.G8390G|TTN_uc010zfj.1_Silent_p.G8265G	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	15689							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)			GCTGAGATTCTCCCTTTTTGC	0.463												
TTN	7273	broad.mit.edu	37	2	179594261	179594261	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr2:179594261C>T	uc010zfg.1	-	61	15114	c.14890G>A	c.(14890-14892)GTG>ATG	p.V4964M	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.V1625M	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	5891							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)			ACTACCTCCACAGGCTTCAGC	0.468												
ZNF804A	91752	broad.mit.edu	37	2	185801763	185801763	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr2:185801763G>A	uc002uph.2	+	4	2234	c.1640G>A	c.(1639-1641)AGG>AAG	p.R547K		NM_194250	NP_919226	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	547						intracellular	zinc ion binding			ovary(6)|skin(3)|large_intestine(1)|pancreas(1)	11						ACAGGTCAGAGGTATAAAAAC	0.328												
FAM126B	285172	broad.mit.edu	37	2	201846082	201846082	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr2:201846082C>T	uc002uws.3	-	12	1692	c.1504G>A	c.(1504-1506)GAA>AAA	p.E502K	FAM126B_uc002uwu.2_Missense_Mutation_p.E476K|FAM126B_uc002uwv.2_Missense_Mutation_p.E502K	NM_173822	NP_776183	Q8IXS8	F126B_HUMAN	hypothetical protein LOC285172	502						intracellular				ovary(1)	1						TCTTTACCTTCGCCAGCTTGA	0.507												
BMPR2	659	broad.mit.edu	37	2	203420873	203420873	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr2:203420873A>G	uc002uzf.3	+	12	3633	c.2485A>G	c.(2485-2487)ACA>GCA	p.T829A	BMPR2_uc010ftr.2_Intron	NM_001204	NP_001195	Q13873	BMPR2_HUMAN	bone morphogenetic protein receptor type II	829	Cytoplasmic (Potential).				anterior/posterior pattern formation|BMP signaling pathway|cellular response to starvation|lung alveolus development|mesoderm formation|negative regulation of cell growth|negative regulation of systemic arterial blood pressure|negative regulation of vasoconstriction|positive regulation of BMP signaling pathway|positive regulation of bone mineralization|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of epithelial cell migration|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|regulation of lung blood pressure|transcription from RNA polymerase II promoter|vascular endothelial growth factor receptor signaling pathway	integral to plasma membrane	ATP binding|metal ion binding|transforming growth factor beta receptor activity			ovary(4)|breast(2)|large_intestine(1)|stomach(1)|pancreas(1)	9						TGCCAATGGGACAGTACTATC	0.468												
NRP2	8828	broad.mit.edu	37	2	206592721	206592721	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr2:206592721G>A	uc002vaw.2	+	7	1888	c.1097G>A	c.(1096-1098)AGC>AAC	p.S366N	NRP2_uc002vat.2_Missense_Mutation_p.S366N|NRP2_uc002vau.2_Missense_Mutation_p.S366N|NRP2_uc002vav.2_Missense_Mutation_p.S366N|NRP2_uc002vax.2_Missense_Mutation_p.S366N|NRP2_uc002vay.2_Missense_Mutation_p.S366N|NRP2_uc010fud.2_Missense_Mutation_p.S366N	NM_201266	NP_957718	O60462	NRP2_HUMAN	neuropilin 2 isoform 1 precursor	366	Extracellular (Potential).|F5/8 type C 1.				angiogenesis|axon guidance|cell adhesion	integral to membrane|membrane fraction|plasma membrane	heparin binding|metal ion binding|semaphorin receptor activity|vascular endothelial growth factor receptor activity			skin(2)|ovary(1)|central_nervous_system(1)	4						CTGGAAGTCAGCACTAATGGA	0.498												
ZDBF2	57683	broad.mit.edu	37	2	207171007	207171007	+	Silent	SNP	T	T	C			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr2:207171007T>C	uc002vbp.2	+	5	2005	c.1755T>C	c.(1753-1755)TGT>TGC	p.C585C		NM_020923	NP_065974	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	585							nucleic acid binding|zinc ion binding			ovary(3)	3						GTTTTGATTGTGATGTTTCTC	0.423												
ZDBF2	57683	broad.mit.edu	37	2	207171142	207171142	+	Silent	SNP	C	C	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr2:207171142C>A	uc002vbp.2	+	5	2140	c.1890C>A	c.(1888-1890)GTC>GTA	p.V630V		NM_020923	NP_065974	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	630							nucleic acid binding|zinc ion binding			ovary(3)	3						ATTGTGATGTCTCACTTGGGA	0.418												
MAP2	4133	broad.mit.edu	37	2	210518129	210518129	+	Silent	SNP	C	C	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr2:210518129C>T	uc002vde.1	+	4	483	c.235C>T	c.(235-237)CTG>TTG	p.L79L	MAP2_uc002vdc.1_Silent_p.L79L|MAP2_uc002vdd.1_Silent_p.L79L|MAP2_uc002vdf.1_Silent_p.L79L|MAP2_uc002vdg.1_Silent_p.L79L|MAP2_uc002vdh.1_Silent_p.L79L|MAP2_uc002vdi.1_Silent_p.L79L	NM_002374	NP_002365	P11137	MAP2_HUMAN	microtubule-associated protein 2 isoform 1	79					central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity			ovary(9)|upper_aerodigestive_tract(2)|large_intestine(2)|pancreas(2)|central_nervous_system(1)|skin(1)	17		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Estramustine(DB01196)	CAACGGAGAGCTGACCTCAGC	0.468												
ACADL	33	broad.mit.edu	37	2	211082788	211082788	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr2:211082788T>C	uc002vdz.3	-	3	500	c.272A>G	c.(271-273)GAA>GGA	p.E91G	ACADL_uc010zjg.1_Missense_Mutation_p.E91G	NM_001608	NP_001599	P28330	ACADL_HUMAN	long-chain acyl-CoA dehydrogenase precursor	91					carnitine catabolic process|carnitine metabolic process, CoA-linked|fatty acid beta-oxidation using acyl-CoA dehydrogenase|negative regulation of fatty acid biosynthetic process|negative regulation of fatty acid oxidation|regulation of cholesterol metabolic process|temperature homeostasis	mitochondrial matrix	long-chain-acyl-CoA dehydrogenase activity|palmitoyl-CoA oxidase activity				0		Renal(323;0.202)		Epithelial(149;0.00631)|Lung(261;0.0438)|LUSC - Lung squamous cell carcinoma(261;0.0466)|all cancers(144;0.0621)		TCCAGCTTTTTCCCAAACCTC	0.388												
ERBB4	2066	broad.mit.edu	37	2	212288922	212288922	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr2:212288922G>A	uc002veg.1	-	23	2922	c.2824C>T	c.(2824-2826)CCT>TCT	p.P942S	ERBB4_uc002veh.1_Missense_Mutation_p.P942S|ERBB4_uc010zji.1_Missense_Mutation_p.P932S|ERBB4_uc010zjj.1_Missense_Mutation_p.P932S	NM_005235	NP_005226	Q15303	ERBB4_HUMAN	v-erb-a erythroblastic leukemia viral oncogene	942	Protein kinase.|Cytoplasmic (Potential).				cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			lung(21)|skin(5)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	33		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		CAGATGGGAGGCTGAGGCAAA	0.393										TSP Lung(8;0.080)		
ERBB4	2066	broad.mit.edu	37	2	212652859	212652859	+	Silent	SNP	T	T	C			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr2:212652859T>C	uc002veg.1	-	4	545	c.447A>G	c.(445-447)GTA>GTG	p.V149V	ERBB4_uc002veh.1_Silent_p.V149V|ERBB4_uc010zji.1_Silent_p.V149V|ERBB4_uc010zjj.1_Silent_p.V149V|ERBB4_uc010fut.1_Silent_p.V149V	NM_005235	NP_005226	Q15303	ERBB4_HUMAN	v-erb-a erythroblastic leukemia viral oncogene	149	Extracellular (Potential).				cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			lung(21)|skin(5)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	33		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		TGTTCTGGTCTACATAGACTC	0.343										TSP Lung(8;0.080)		
FN1	2335	broad.mit.edu	37	2	216253000	216253000	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr2:216253000A>G	uc002vfa.2	-	27	4543	c.4277T>C	c.(4276-4278)GTA>GCA	p.V1426A	FN1_uc002vfb.2_Missense_Mutation_p.V1335A|FN1_uc002vfc.2_Missense_Mutation_p.V1335A|FN1_uc002vfd.2_Missense_Mutation_p.V1426A|FN1_uc002vfe.2_Missense_Mutation_p.V1335A|FN1_uc002vff.2_Missense_Mutation_p.V1335A|FN1_uc002vfg.2_Missense_Mutation_p.V1335A|FN1_uc002vfh.2_Missense_Mutation_p.V1335A|FN1_uc002vfi.2_Missense_Mutation_p.V1426A|FN1_uc002vfj.2_Missense_Mutation_p.V1426A|FN1_uc002vez.2_5'UTR|FN1_uc010zjp.1_Missense_Mutation_p.V53A	NM_212482	NP_997647	P02751	FINC_HUMAN	fibronectin 1 isoform 1 preproprotein	1425	Fibronectin type-III 9.|Cell-attachment.				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding			central_nervous_system(7)|large_intestine(2)|breast(2)|ovary(1)|pancreas(1)	13		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GACACTCACTACATATTCTGT	0.453												
PRKAG3	53632	broad.mit.edu	37	2	219689020	219689020	+	Silent	SNP	T	T	C			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr2:219689020T>C	uc002vjb.1	-	12	1297	c.1278A>G	c.(1276-1278)CTA>CTG	p.L426L		NM_017431	NP_059127	Q9UGI9	AAKG3_HUMAN	AMP-activated protein kinase, non-catalytic	426					cell cycle arrest|fatty acid biosynthetic process|insulin receptor signaling pathway|intracellular protein kinase cascade|regulation of fatty acid oxidation	cytosol	AMP-activated protein kinase activity|protein kinase binding			ovary(1)|lung(1)	2		Renal(207;0.0474)		Epithelial(149;4.35e-07)|all cancers(144;8.96e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCTCCAGACATAGTGTCCTCT	0.592												
SPEG	10290	broad.mit.edu	37	2	220353849	220353849	+	Silent	SNP	C	C	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr2:220353849C>T	uc010fwg.2	+	35	8223	c.8223C>T	c.(8221-8223)GGC>GGT	p.G2741G		NM_005876	NP_005867	Q15772	SPEG_HUMAN	SPEG complex locus	2741	Fibronectin type-III 2.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			stomach(9)|ovary(4)|central_nervous_system(1)	14		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		TGCCAGTTGGCGTGACTGTGA	0.592												
FARSB	10056	broad.mit.edu	37	2	223478636	223478636	+	Silent	SNP	A	A	G			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr2:223478636A>G	uc002vne.1	-	15	1391	c.1356T>C	c.(1354-1356)ACT>ACC	p.T452T	FARSB_uc010zlq.1_Silent_p.T472T|FARSB_uc002vnf.1_Silent_p.T353T	NM_005687	NP_005678	Q9NSD9	SYFB_HUMAN	phenylalanyl-tRNA synthetase, beta subunit	452					phenylalanyl-tRNA aminoacylation	cytosol|soluble fraction	ATP binding|magnesium ion binding|phenylalanine-tRNA ligase activity|RNA binding			ovary(1)	1		Renal(207;0.0183)		Epithelial(121;3.47e-10)|all cancers(144;1.86e-07)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.011)	L-Phenylalanine(DB00120)	GAAGAAGGGTAGTGCGTGCCA	0.423												
CUL3	8452	broad.mit.edu	37	2	225376238	225376238	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr2:225376238G>A	uc002vny.2	-	6	1100	c.716C>T	c.(715-717)GCT>GTT	p.A239V	CUL3_uc010zls.1_Missense_Mutation_p.A173V|CUL3_uc010fwy.1_Missense_Mutation_p.A245V	NM_003590	NP_003581	Q13618	CUL3_HUMAN	cullin 3	239					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)		ATTAATTCTAGCTTCTACTTT	0.323												
COL4A4	1286	broad.mit.edu	37	2	227892635	227892635	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr2:227892635C>A	uc010zlt.1	-	42	4718	c.4064G>T	c.(4063-4065)GGG>GTG	p.G1355V		NM_000092	NP_000083	P53420	CO4A4_HUMAN	alpha 4 type IV collagen precursor	1355	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			ovary(5)|central_nervous_system(3)|pancreas(1)|breast(1)|skin(1)	11		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		ACCAGTGGGCCCTTTTCTCCC	0.463												
SP110	3431	broad.mit.edu	37	2	231042314	231042314	+	Silent	SNP	G	G	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr2:231042314G>A	uc002vqh.3	-	14	1770	c.1530C>T	c.(1528-1530)AAC>AAT	p.N510N	SP110_uc002vqg.3_Silent_p.N510N|SP110_uc002vqi.3_Silent_p.N510N|SP110_uc010fxk.2_Silent_p.N508N|SP110_uc010fxj.2_Silent_p.N153N	NM_004509	NP_004500	Q9HB58	SP110_HUMAN	SP110 nuclear body protein isoform a	510	SAND.				interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|signal transducer activity|zinc ion binding			ovary(2)|breast(2)	4		Renal(207;0.0112)|all_lung(227;0.0223)|Lung NSC(271;0.0983)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.169)		Epithelial(121;2.61e-12)|all cancers(144;6.39e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.0097)		AGTTCTTTGCGTTCCTTCCTT	0.423												
ALPP	250	broad.mit.edu	37	2	233243931	233243931	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr2:233243931C>T	uc002vsq.2	+	3	380	c.215C>T	c.(214-216)ACA>ATA	p.T72I	ALPP_uc002vsr.2_5'Flank	NM_001632	NP_001623	P05187	PPB1_HUMAN	placental alkaline phosphatase preproprotein	72						anchored to membrane|cell surface|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding			ovary(1)	1		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;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)		TCTACGGTGACAGCTGCCAGG	0.597												
ALPP	250	broad.mit.edu	37	2	233245422	233245422	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr2:233245422C>T	uc002vsq.2	+	8	1120	c.955C>T	c.(955-957)CGC>TGC	p.R319C	ALPP_uc002vsr.2_5'Flank	NM_001632	NP_001623	P05187	PPB1_HUMAN	placental alkaline phosphatase preproprotein	319						anchored to membrane|cell surface|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding			ovary(1)	1		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;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)		GGCTGCCCTGCGCCTGCTGAG	0.632												
GIGYF2	26058	broad.mit.edu	37	2	233671202	233671202	+	Silent	SNP	T	T	C			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr2:233671202T>C	uc002vti.3	+	17	1978	c.1641T>C	c.(1639-1641)GGT>GGC	p.G547G	GIGYF2_uc010zmj.1_Silent_p.G547G|GIGYF2_uc002vtg.2_Silent_p.G541G|GIGYF2_uc002vtj.3_Silent_p.G568G|GIGYF2_uc002vtk.3_Silent_p.G547G|GIGYF2_uc002vth.3_Silent_p.G541G|GIGYF2_uc010zmk.1_RNA|GIGYF2_uc010zml.1_Silent_p.G378G	NM_015575	NP_056390	Q6Y7W6	PERQ2_HUMAN	GRB10 interacting GYF protein 2 isoform b	547	GYF.|Required for GRB10-binding (By similarity).				cell death		protein binding			ovary(4)|central_nervous_system(3)	7		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)		CTGTTATAGGTCCCTTCAATA	0.398												
COL6A3	1293	broad.mit.edu	37	2	238289897	238289897	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr2:238289897C>T	uc002vwl.2	-	5	1843	c.1558G>A	c.(1558-1560)GGC>AGC	p.G520S	COL6A3_uc002vwo.2_Missense_Mutation_p.G314S|COL6A3_uc010znj.1_Missense_Mutation_p.G113S|COL6A3_uc002vwq.2_Missense_Mutation_p.G314S|COL6A3_uc002vwr.2_Missense_Mutation_p.G113S|COL6A3_uc010znk.1_Missense_Mutation_p.G520S	NM_004369	NP_004360	P12111	CO6A3_HUMAN	alpha 3 type VI collagen isoform 1 precursor	520	VWFA 3.|Nonhelical region.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			ovary(8)|central_nervous_system(6)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	18		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		AGGGCCGAGCCGTCCAGGGGC	0.522												
RNPEPL1	57140	broad.mit.edu	37	2	241516115	241516115	+	Silent	SNP	C	C	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr2:241516115C>T	uc002vzi.2	+	9	1574	c.981C>T	c.(979-981)TCC>TCT	p.S327S	RNPEPL1_uc010fzf.2_Silent_p.S233S|RNPEPL1_uc002vzj.2_5'UTR	NM_018226	NP_060696	Q9HAU8	RNPL1_HUMAN	arginyl aminopeptidase (aminopeptidase B)-like	327					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)		TTGACATCTCCAAGTGGAGGA	0.672												
AQP12B	653437	broad.mit.edu	37	2	241622123	241622123	+	Silent	SNP	C	C	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr2:241622123C>T	uc010fzj.2	-	1	195	c.132G>A	c.(130-132)GCG>GCA	p.A44A	AQP12B_uc002vzt.2_Intron	NM_001102467	NP_001095937	A6NM10	AQ12B_HUMAN	aquaporin 12B	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment						integral to membrane	transporter activity				0		all_epithelial(40;1.71e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|all_neural(83;0.0459)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;2.2e-31)|all cancers(36;1.08e-28)|OV - Ovarian serous cystadenocarcinoma(60;2.13e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.52e-06)|Lung(119;0.00163)|LUSC - Lung squamous cell carcinoma(224;0.008)|Colorectal(34;0.0124)|COAD - Colon adenocarcinoma(134;0.0757)		CGAGCTGCACCGCGCCCACCG	0.687												
HDLBP	3069	broad.mit.edu	37	2	242187691	242187691	+	Missense_Mutation	SNP	G	G	C			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr2:242187691G>C	uc002waz.2	-	13	1813	c.1585C>G	c.(1585-1587)CGG>GGG	p.R529G	HDLBP_uc002wba.2_Missense_Mutation_p.R529G|HDLBP_uc002wbb.2_Missense_Mutation_p.R481G	NM_203346	NP_976221	Q00341	VIGLN_HUMAN	high density lipoprotein binding protein	529	KH 6.				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)		TCACGGATCCGTTCACCCTTC	0.388												
ANGPT4	51378	broad.mit.edu	37	20	870947	870947	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr20:870947T>C	uc002wei.2	-	2	477	c.374A>G	c.(373-375)CAG>CGG	p.Q125R	ANGPT4_uc010zpn.1_Missense_Mutation_p.Q119R	NM_015985	NP_057069	Q9Y264	ANGP4_HUMAN	angiopoietin 4 precursor	125	Potential.				anti-apoptosis|blood coagulation|cellular response to hypoxia|leukocyte migration|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of peptidyl-tyrosine phosphorylation|signal transduction	extracellular space	receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity			ovary(2)	2						CGTCTGATTCTGGGCCATTTG	0.617												
TGM6	343641	broad.mit.edu	37	20	2384384	2384384	+	Silent	SNP	G	G	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr20:2384384G>A	uc002wfy.1	+	9	1312	c.1251G>A	c.(1249-1251)ACG>ACA	p.T417T	TGM6_uc010gal.1_Silent_p.T417T	NM_198994	NP_945345	O95932	TGM3L_HUMAN	transglutaminase 6	417					cell death|peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			ovary(3)|skin(1)	4					L-Glutamine(DB00130)	ACTCAAACACGAAGAAGATTG	0.577												
GNRH2	2797	broad.mit.edu	37	20	3025077	3025077	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr20:3025077G>A	uc002whr.1	+	2	68	c.17G>A	c.(16-18)CGA>CAA	p.R6Q	GNRH2_uc002whp.1_Missense_Mutation_p.R6Q|GNRH2_uc002whq.1_Missense_Mutation_p.R6Q|GNRH2_uc010gau.1_Missense_Mutation_p.R6Q|MRPS26_uc002whs.2_5'Flank	NM_001501	NP_001492	O43555	GON2_HUMAN	gonadotropin-releasing hormone 2 isoform a	6					multicellular organismal development|signal transduction	extracellular region|soluble fraction	hormone activity				0						AGCTCCAGGCGAGGCCTCCTG	0.617												
ProSAPiP1	9762	broad.mit.edu	37	20	3145701	3145701	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr20:3145701C>T	uc002wia.1	-	3	2819	c.1421G>A	c.(1420-1422)CGC>CAC	p.R474H	ProSAPiP1_uc002wib.1_Missense_Mutation_p.R428H	NM_014731	NP_055546	O60299	PRIP1_HUMAN	ProSAPiP1 protein	474	Potential.					cell junction|cytoplasm|postsynaptic density|postsynaptic membrane				pancreas(1)	1						CAGCTGCGAGCGCAGTCCCAC	0.652												
ADAM33	80332	broad.mit.edu	37	20	3652952	3652952	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr20:3652952G>A	uc002wit.2	-	14	1513	c.1426C>T	c.(1426-1428)CGC>TGC	p.R476C	ADAM33_uc002wiq.1_5'Flank|ADAM33_uc002wir.1_Missense_Mutation_p.R476C|ADAM33_uc002wis.2_5'UTR|ADAM33_uc002wiu.2_Missense_Mutation_p.R476C|uc002wiv.1_5'Flank|ADAM33_uc002wiw.1_Intron|ADAM33_uc010gba.1_Intron|ADAM33_uc010gbb.1_Intron	NM_025220	NP_079496	Q9BZ11	ADA33_HUMAN	ADAM metallopeptidase domain 33 isoform alpha	476	Extracellular (Potential).|Disintegrin.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			large_intestine(2)|ovary(1)|skin(1)	4						ATGGCCTGGCGGCACAGCGCT	0.662												
ADRA1D	146	broad.mit.edu	37	20	4202257	4202257	+	Silent	SNP	T	T	C			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr20:4202257T>C	uc002wkr.2	-	2	1687	c.1632A>G	c.(1630-1632)CTA>CTG	p.L544L		NM_000678	NP_000669	P25100	ADA1D_HUMAN	alpha-1D-adrenergic receptor	544	Cytoplasmic (By similarity).			KPPSAFREWRLLGPFRRPTTQLRAKVSSLSHKIRAGGAQRA EAACAQRSEVEAVSLGVPHEVAEGATCQAYELADYSNLRET DI -> SHPAPSASGGCWGRSGDPRPSCAPKSPACRTRSPP GARSAQRQRAPSAQRWRLCP (in Ref. 1).	cell proliferation|cell-cell signaling|DNA metabolic process|G-protein signaling, coupled to cAMP nucleotide second messenger|multicellular organismal development|positive regulation of cell proliferation	integral to plasma membrane	alpha1-adrenergic receptor activity				0					Alfuzosin(DB00346)|Bethanidine(DB00217)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Doxazosin(DB00590)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Methotrimeprazine(DB01403)|Norepinephrine(DB00368)|Promazine(DB00420)|Propericiazine(DB01608)|Propiomazine(DB00777)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)	GTGGGACGCCTAGGGACACAG	0.672												
MCM8	84515	broad.mit.edu	37	20	5933111	5933111	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr20:5933111T>C	uc002wmi.2	+	3	567	c.190T>C	c.(190-192)TCA>CCA	p.S64P	TRMT6_uc002wmh.1_5'Flank|TRMT6_uc010zra.1_5'Flank|TRMT6_uc010gbn.1_5'Flank|TRMT6_uc010gbo.1_5'Flank|MCM8_uc002wmj.2_Missense_Mutation_p.S64P|MCM8_uc002wmk.2_Missense_Mutation_p.S64P|MCM8_uc002wml.2_Missense_Mutation_p.S64P|MCM8_uc010gbp.2_Missense_Mutation_p.S64P	NM_032485	NP_115874	Q9UJA3	MCM8_HUMAN	minichromosome maintenance complex component 8	64					cell cycle checkpoint|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|nucleoside-triphosphatase activity			skin(1)	1						GACCCCACAGTCAATGCAGTC	0.343												
FLRT3	23767	broad.mit.edu	37	20	14307651	14307651	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr20:14307651T>C	uc002wov.1	-	3	969	c.502A>G	c.(502-504)ACA>GCA	p.T168A	MACROD2_uc002wot.2_Intron|MACROD2_uc002wou.2_Intron|FLRT3_uc002wow.1_Missense_Mutation_p.T168A	NM_198391	NP_938205	Q9NZU0	FLRT3_HUMAN	fibronectin leucine rich transmembrane protein 3	168	Extracellular (Potential).|LRR 5.				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)		CAGGGAATTGTGCTAAGGTGA	0.453												
THBD	7056	broad.mit.edu	37	20	23028798	23028798	+	Silent	SNP	G	G	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr20:23028798G>A	uc002wss.2	-	1	1504	c.1344C>T	c.(1342-1344)GGC>GGT	p.G448G	THBD_uc002wst.1_5'Flank|THBD_uc002wsu.1_Silent_p.G389G	NM_000361	NP_000352	P07204	TRBM_HUMAN	thrombomodulin precursor	448	EGF-like 6; calcium-binding (Potential).|Extracellular (Potential).				blood coagulation|leukocyte migration|negative regulation of fibrinolysis|negative regulation of platelet activation	cell surface|integral to plasma membrane	calcium ion binding|protein binding|transmembrane receptor activity				0	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)				Drotrecogin alfa(DB00055)	AGCAGAAGCCGCCGTTTTCGC	0.637												
TMEM90B	79953	broad.mit.edu	37	20	24524119	24524119	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr20:24524119C>T	uc002wtw.1	+	2	1019	c.386C>T	c.(385-387)CCG>CTG	p.P129L		NM_024893	NP_079169	Q9H7V2	SYNG1_HUMAN	transmembrane protein 90B	129	Cytoplasmic (Potential).				response to biotic stimulus	early endosome membrane|integral to membrane|plasma membrane					0						CTCGAGTACCCGGATGGGAAG	0.607												
ACSS1	84532	broad.mit.edu	37	20	25004171	25004171	+	Silent	SNP	C	C	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr20:25004171C>T	uc002wub.2	-	4	1616	c.738G>A	c.(736-738)CAG>CAA	p.Q246Q	ACSS1_uc002wuc.2_Silent_p.Q246Q|ACSS1_uc010gdc.2_Intron|ACSS1_uc002wud.1_5'Flank|ACSS1_uc002wua.2_Silent_p.Q163Q	NM_032501	NP_115890	Q9NUB1	ACS2L_HUMAN	acyl-CoA synthetase short-chain family member 1	246					acetyl-CoA biosynthetic process|ethanol oxidation|xenobiotic metabolic process	mitochondrial matrix	acetate-CoA ligase activity|AMP binding|ATP binding|protein binding			ovary(1)|skin(1)	2					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	CCAGGACATGCTGCACGGTGG	0.587												
NINL	22981	broad.mit.edu	37	20	25493618	25493618	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr20:25493618T>G	uc002wux.1	-	4	376	c.302A>C	c.(301-303)AAG>ACG	p.K101T	NINL_uc010gdn.1_Missense_Mutation_p.K101T|NINL_uc010gdo.1_5'UTR|NINL_uc010ztf.1_Missense_Mutation_p.K117T	NM_025176	NP_079452	Q9Y2I6	NINL_HUMAN	ninein-like	101					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						ATTCACATACTTTGGAGGGAT	0.582												
DEFB119	245932	broad.mit.edu	37	20	29965051	29965051	+	Nonstop_Mutation	SNP	A	A	G			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr20:29965051A>G	uc002wvt.2	-	2	373	c.253T>C	c.(253-255)TGA>CGA	p.*85R	DEFB119_uc002wvs.2_3'UTR	NM_153289	NP_695021	Q8N690	DB119_HUMAN	defensin, beta 119 isoform a precursor	85					defense response to bacterium	extracellular region					0	all_hematologic(12;0.158)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			ACCAGCACTCAAGGTAGTCTT	0.488												
KIF3B	9371	broad.mit.edu	37	20	30904405	30904405	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr20:30904405A>C	uc002wxq.2	+	4	1749	c.1582A>C	c.(1582-1584)AGC>CGC	p.S528R	KIF3B_uc010ztw.1_Missense_Mutation_p.S466R	NM_004798	NP_004789	O15066	KIF3B_HUMAN	kinesin family member 3B	528	Potential.				anterograde axon cargo transport|blood coagulation|determination of left/right symmetry|mitotic centrosome separation|plus-end-directed vesicle transport along microtubule|spindle assembly involved in mitosis	centrosome|cytosol|kinesin II complex|plus-end kinesin complex|spindle microtubule	ATP binding|plus-end-directed microtubule motor activity|Rho GTPase binding			central_nervous_system(3)|ovary(2)	5			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			AGAGACATACAGCTCATTGCA	0.438												
MYH7B	57644	broad.mit.edu	37	20	33577633	33577633	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr20:33577633G>A	uc002xbi.1	+	18	1896	c.1804G>A	c.(1804-1806)GCG>ACG	p.A602T	MIR499_hsa-mir-499|MI0003183_5'Flank	NM_020884	NP_065935	A7E2Y1	MYH7B_HUMAN	myosin, heavy polypeptide 7B, cardiac muscle,	560	Myosin head-like.					membrane|myosin filament	actin binding|ATP binding|motor activity			ovary(1)|breast(1)	2			BRCA - Breast invasive adenocarcinoma(18;0.00691)			CGACAACCACGCGGGGAAGTC	0.612												
DLGAP4	22839	broad.mit.edu	37	20	35125326	35125326	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr20:35125326C>T	uc002xff.2	+	8	2302	c.1867C>T	c.(1867-1869)CGG>TGG	p.R623W	DLGAP4_uc010zvp.1_Missense_Mutation_p.R623W|DLGAP4_uc002xfg.2_Translation_Start_Site|DLGAP4_uc002xfh.2_Missense_Mutation_p.R84W|DLGAP4_uc002xfi.2_Translation_Start_Site|DLGAP4_uc002xfj.2_5'Flank	NM_014902	NP_055717	Q9Y2H0	DLGP4_HUMAN	disks large-associated protein 4 isoform a	623					cell-cell signaling	membrane	protein binding			skin(2)|ovary(1)	3	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				CAGCGTGACACGGGGTGGAGT	0.647												
NNAT	4826	broad.mit.edu	37	20	36149740	36149740	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr20:36149740G>A	uc002xhd.2	+	1	134	c.7G>A	c.(7-9)GCA>ACA	p.A3T	BLCAP_uc002xha.2_5'UTR|BLCAP_uc002xhb.2_Intron|BLCAP_uc002xhc.2_Intron|NNAT_uc002xhe.2_Missense_Mutation_p.A3T	NM_005386	NP_005377	Q16517	NNAT_HUMAN	neuronatin isoform alpha	3					brain development|protein lipoylation|transport						0		Myeloproliferative disorder(115;0.00878)				AACCATGGCGGCAGTGGCGGC	0.637												
PPP1R16B	26051	broad.mit.edu	37	20	37536802	37536802	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr20:37536802G>T	uc002xje.2	+	10	1349	c.1160G>T	c.(1159-1161)AGG>ATG	p.R387M	PPP1R16B_uc010ggc.2_Missense_Mutation_p.R345M	NM_015568	NP_056383	Q96T49	PP16B_HUMAN	protein phosphatase 1 regulatory inhibitor	387					regulation of filopodium assembly|signal transduction	nucleus|plasma membrane	protein phosphatase binding			upper_aerodigestive_tract(1)|kidney(1)|skin(1)	3		Myeloproliferative disorder(115;0.00878)				GGGGACATCAGGGAGACCAGG	0.597												
FAM83D	81610	broad.mit.edu	37	20	37570621	37570621	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr20:37570621A>G	uc002xjg.2	+	2	634	c.593A>G	c.(592-594)GAC>GGC	p.D198G	FAM83D_uc002xjf.2_Missense_Mutation_p.D198G	NM_030919	NP_112181	Q9H4H8	FA83D_HUMAN	hypothetical protein LOC81610	168					cell division|mitosis	cytoplasm|spindle pole				ovary(3)	3		Myeloproliferative disorder(115;0.00878)				GTGGTCATGGACGTGTTCACA	0.493												
DHX35	60625	broad.mit.edu	37	20	37647462	37647462	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr20:37647462G>A	uc002xjh.2	+	15	1429	c.1418G>A	c.(1417-1419)TGT>TAT	p.C473Y	DHX35_uc010zwa.1_Missense_Mutation_p.C318Y|DHX35_uc010zwb.1_Missense_Mutation_p.C318Y|DHX35_uc010zwc.1_Missense_Mutation_p.C442Y	NM_021931	NP_068750	Q9H5Z1	DHX35_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 35	473						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)				GACAAAGACTGTCGCCTAACT	0.443												
YWHAB	7529	broad.mit.edu	37	20	43535058	43535058	+	Silent	SNP	C	C	T	rs150381005	by1000genomes	TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr20:43535058C>T	uc002xmt.2	+	7	1002	c.720C>T	c.(718-720)GAC>GAT	p.D240D	YWHAB_uc002xmu.2_Silent_p.D240D	NM_003404	NP_003395	P31946	1433B_HUMAN	tyrosine 3-monooxygenase/tryptophan	240					activation of MAPKK activity|activation of pro-apoptotic gene products|axon guidance|cytoplasmic sequestering of protein|epidermal growth factor receptor signaling pathway|induction of apoptosis by intracellular signals|insulin receptor signaling pathway|mRNA metabolic process|negative regulation of protein dephosphorylation|nerve growth factor receptor signaling pathway|Ras protein signal transduction	centrosome|cytosol|melanosome|perinuclear region of cytoplasm	histone deacetylase binding|phosphoserine binding|protein domain specific binding			kidney(2)|ovary(1)|breast(1)	4		Myeloproliferative disorder(115;0.0122)				ACGAAGGAGACGCTGGGGAGG	0.448												
SYS1	90196	broad.mit.edu	37	20	43995543	43995543	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr20:43995543C>T	uc002xnv.2	+	4	517	c.259C>T	c.(259-261)CGA>TGA	p.R87*	SYS1_uc010gha.2_RNA|SYS1_uc002xnw.1_Intron|SYS1-DBNDD2_uc002xnx.2_Intron	NM_033542	NP_291020	Q8N2H4	SYS1_HUMAN	SYS1 Golgi-localized integral membrane protein	87					protein transport	Golgi membrane|integral to membrane				skin(1)	1		Myeloproliferative disorder(115;0.0122)				CTTCATCCGGCGAGGAAAGCA	0.567												
KCNB1	3745	broad.mit.edu	37	20	48098564	48098564	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr20:48098564C>T	uc002xur.1	-	1	618	c.454G>A	c.(454-456)GCC>ACC	p.A152T	KCNB1_uc002xus.1_Missense_Mutation_p.A152T	NM_004975	NP_004966	Q14721	KCNB1_HUMAN	potassium voltage-gated channel, Shab-related	152	Cytoplasmic (Potential).				energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			pancreas(1)|skin(1)	2			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			AGGGTCTCGGCCTCACGCTTG	0.582												
PTGIS	5740	broad.mit.edu	37	20	48164538	48164538	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr20:48164538A>G	uc002xut.2	-	3	271	c.217T>C	c.(217-219)TAT>CAT	p.Y73H	PTGIS_uc010zyi.1_Intron	NM_000961	NP_000952	Q16647	PTGIS_HUMAN	prostaglandin I2 synthase	73					hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|prostaglandin-I synthase activity			skin(2)|ovary(1)	3			BRCA - Breast invasive adenocarcinoma(12;2.37e-05)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		Phenylbutazone(DB00812)	ACGGTGACATACCTGCCCCCA	0.557												
PARD6B	84612	broad.mit.edu	37	20	49366959	49366959	+	Silent	SNP	G	G	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr20:49366959G>A	uc002xvo.2	+	3	1296	c.1053G>A	c.(1051-1053)ACG>ACA	p.T351T		NM_032521	NP_115910	Q9BYG5	PAR6B_HUMAN	PAR-6 beta	351					axonogenesis|cell cycle|cell division|establishment or maintenance of cell polarity|protein complex assembly|regulation of cell migration|tight junction assembly	cytosol|tight junction	protein binding			kidney(1)	1						GCTCAAACACGGAATTTGAAA	0.398												
SALL4	57167	broad.mit.edu	37	20	50408031	50408031	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr20:50408031G>T	uc002xwh.3	-	2	1092	c.991C>A	c.(991-993)CCG>ACG	p.P331T	SALL4_uc010gii.2_Missense_Mutation_p.P331T|SALL4_uc002xwi.3_Intron	NM_020436	NP_065169	Q9UJQ4	SALL4_HUMAN	sal-like 4	331					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2						AAAGCGCTCGGGAGGCGGGAC	0.642												
COL9A3	1299	broad.mit.edu	37	20	61467685	61467685	+	Silent	SNP	G	G	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr20:61467685G>T	uc002ydm.2	+	28	1551	c.1548G>T	c.(1546-1548)CCG>CCT	p.P516P	COL9A3_uc002ydn.2_5'Flank	NM_001853	NP_001844	Q14050	CO9A3_HUMAN	alpha 3 type IX collagen precursor	516	Triple-helical region 3 (COL3).				axon guidance	collagen type IX					0	Breast(26;5.68e-08)					CGGGAGTTCCGGTACGTCGCT	0.632												
DIDO1	11083	broad.mit.edu	37	20	61511012	61511012	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr20:61511012G>T	uc002ydr.1	-	16	6560	c.6296C>A	c.(6295-6297)CCG>CAG	p.P2099Q	DIDO1_uc002yds.1_Missense_Mutation_p.P2099Q	NM_033081	NP_149072	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1 isoform c	2099					apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			ovary(3)|skin(3)	6	Breast(26;5.68e-08)					CTCCTCCAGCGGCTTCTCTTT	0.527												
DIDO1	11083	broad.mit.edu	37	20	61528048	61528048	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr20:61528048C>T	uc002ydr.1	-	7	2153	c.1889G>A	c.(1888-1890)GGC>GAC	p.G630D	DIDO1_uc002yds.1_Missense_Mutation_p.G630D|DIDO1_uc002ydt.1_Missense_Mutation_p.G630D|DIDO1_uc002ydu.1_Missense_Mutation_p.G630D	NM_033081	NP_149072	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1 isoform c	630					apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			ovary(3)|skin(3)	6	Breast(26;5.68e-08)					AGCAGCGGAGCCAGGGAACTT	0.647												
ZBTB46	140685	broad.mit.edu	37	20	62421833	62421833	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr20:62421833G>A	uc002ygv.1	-	2	479	c.278C>T	c.(277-279)GCG>GTG	p.A93V	ZBTB46_uc002ygu.2_RNA	NM_025224	NP_079500	Q86UZ6	ZBT46_HUMAN	zinc finger and BTB domain containing 46	93	BTB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			large_intestine(1)|ovary(1)	2	all_cancers(38;2.09e-12)|all_epithelial(29;3.8e-14)|Lung NSC(23;7.61e-10)|all_lung(23;2.64e-09)					CGCCAGGTGCGCTGAGTACAT	0.602												
MYT1	4661	broad.mit.edu	37	20	62858781	62858781	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr20:62858781G>A	uc002yii.2	+	17	2906	c.2542G>A	c.(2542-2544)GGC>AGC	p.G848S	MYT1_uc002yih.2_Missense_Mutation_p.G527S|MYT1_uc002yij.2_Missense_Mutation_p.G507S	NM_004535	NP_004526	Q01538	MYT1_HUMAN	myelin transcription factor 1	848	C2HC-type 5.				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)					CCCCACGCCCGGCTGTGACGG	0.677												
TMPRSS15	5651	broad.mit.edu	37	21	19737461	19737461	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr21:19737461T>C	uc002ykw.2	-	7	800	c.769A>G	c.(769-771)ATA>GTA	p.I257V		NM_002772	NP_002763	P98073	ENTK_HUMAN	enterokinase precursor	257	Extracellular (Potential).|CUB 1.				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			ovary(5)|upper_aerodigestive_tract(1)|breast(1)|skin(1)	8						TATTACCGTATGATCCACTGG	0.348												
NCAM2	4685	broad.mit.edu	37	21	22849745	22849745	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr21:22849745C>T	uc002yld.1	+	15	2279	c.2030C>T	c.(2029-2031)CCG>CTG	p.P677L	NCAM2_uc011acb.1_Missense_Mutation_p.P535L	NM_004540	NP_004531	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2 precursor	677	Fibronectin type-III 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)		TATTCTGAACCGACAGTTTAT	0.378												
GABPA	2551	broad.mit.edu	37	21	27136926	27136926	+	Silent	SNP	C	C	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr21:27136926C>T	uc002ylx.3	+	9	1491	c.964C>T	c.(964-966)CTA>TTA	p.L322L	GABPA_uc002yly.3_Silent_p.L322L	NM_002040	NP_002031	Q06546	GABPA_HUMAN	GA binding protein transcription factor, alpha	322	ETS.				positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding			ovary(1)|central_nervous_system(1)	2						CCAAATCCAACTATGGCAGTT	0.413												
ADAMTS1	9510	broad.mit.edu	37	21	28212698	28212698	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr21:28212698C>T	uc002ymf.2	-	5	2017	c.1562G>A	c.(1561-1563)TGT>TAT	p.C521Y		NM_006988	NP_008919	Q9UHI8	ATS1_HUMAN	ADAM metallopeptidase with thrombospondin type 1	521	Disintegrin.				integrin-mediated signaling pathway|negative regulation of cell proliferation|proteolysis		heparin binding|zinc ion binding			lung(3)|large_intestine(2)|central_nervous_system(1)	6		Breast(209;0.000962)		Lung(58;0.215)		TTTGGTTTGACACACCAGCAC	0.537												
ADAMTS1	9510	broad.mit.edu	37	21	28214961	28214961	+	Silent	SNP	G	G	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr21:28214961G>A	uc002ymf.2	-	2	1229	c.774C>T	c.(772-774)CGC>CGT	p.R258R		NM_006988	NP_008919	Q9UHI8	ATS1_HUMAN	ADAM metallopeptidase with thrombospondin type 1	258	Peptidase M12B.				integrin-mediated signaling pathway|negative regulation of cell proliferation|proteolysis		heparin binding|zinc ion binding			lung(3)|large_intestine(2)|central_nervous_system(1)	6		Breast(209;0.000962)		Lung(58;0.215)		TTTCCACATAGCGGTGACTGG	0.453												
ZNF295	49854	broad.mit.edu	37	21	43412000	43412000	+	Silent	SNP	T	T	C			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr21:43412000T>C	uc002zab.3	-	3	2419	c.2205A>G	c.(2203-2205)CTA>CTG	p.L735L	ZNF295_uc002yzz.3_Intron|ZNF295_uc002yzy.3_Silent_p.L735L|ZNF295_uc002zaa.3_Silent_p.L735L	NM_001098402	NP_001091872	Q9ULJ3	ZN295_HUMAN	zinc finger protein 295 isoform L	735					negative regulation of transcription, DNA-dependent|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|nucleus	methyl-CpG binding|protein binding|zinc ion binding			ovary(1)|central_nervous_system(1)|skin(1)	3						TTCCTTGCTCTAGGAGAGAAG	0.537												
TMPRSS3	64699	broad.mit.edu	37	21	43810131	43810131	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr21:43810131G>A	uc002zbb.2	-	3	311	c.110C>T	c.(109-111)GCT>GTT	p.A37V	TMPRSS3_uc002zaz.2_5'Flank|TMPRSS3_uc002zba.2_5'UTR|TMPRSS3_uc002zbc.2_Missense_Mutation_p.A37V|TMPRSS3_uc002zbd.2_Missense_Mutation_p.A37V	NM_024022	NP_076927	P57727	TMPS3_HUMAN	transmembrane protease, serine 3 isoform 1	37	Cytoplasmic (Potential).				cellular sodium ion homeostasis|proteolysis	endoplasmic reticulum membrane|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity|sodium channel regulator activity			ovary(2)|breast(1)	3						GATCTGTGCAGCAACAGCATC	0.443												
PDXK	8566	broad.mit.edu	37	21	45168941	45168941	+	Silent	SNP	G	G	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr21:45168941G>A	uc002zdm.3	+	6	642	c.444G>A	c.(442-444)ACG>ACA	p.T148T	PDXK_uc010gpj.2_Silent_p.T148T|PDXK_uc002zdn.3_Silent_p.T120T|PDXK_uc002zdq.3_Silent_p.T75T	NM_003681	NP_003672	O00764	PDXK_HUMAN	pyridoxal kinase	148					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)	ACATTATCACGCCCAACCAGT	0.348												
PFKL	5211	broad.mit.edu	37	21	45741668	45741668	+	Silent	SNP	G	G	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr21:45741668G>A	uc002zel.2	+	13	1307	c.1248G>A	c.(1246-1248)GCG>GCA	p.A416A	PFKL_uc002zek.2_Silent_p.A463A|PFKL_uc002zem.2_Silent_p.A3A|PFKL_uc002zen.2_Silent_p.A3A	NM_002626	NP_002617	P17858	K6PL_HUMAN	liver phosphofructokinase	416					fructose 6-phosphate metabolic process|glycolysis|protein oligomerization	6-phosphofructokinase complex	6-phosphofructokinase activity|ATP binding|fructose-6-phosphate binding|identical protein binding|kinase binding|metal ion binding				0				Colorectal(79;0.0811)		GCATGAATGCGGCCGTGCGCT	0.647												
CECR2	27443	broad.mit.edu	37	22	17978463	17978463	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr22:17978463C>T	uc010gqw.1	+	3	427	c.301C>T	c.(301-303)CGT>TGT	p.R101C	CECR2_uc010gqv.1_5'UTR|CECR2_uc002zml.2_5'UTR|CECR2_uc002zmm.1_5'UTR	NM_031413	NP_113601	Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2	143					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)		AGACAGTCTCCGTGTGGAGCC	0.488												
ZNF74	7625	broad.mit.edu	37	22	20761010	20761010	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr22:20761010G>T	uc010gsm.2	+	6	1899	c.1687G>T	c.(1687-1689)GAG>TAG	p.E563*	ZNF74_uc002zsg.2_Nonsense_Mutation_p.E492*|ZNF74_uc002zsh.2_Nonsense_Mutation_p.E563*|ZNF74_uc002zsi.2_Nonsense_Mutation_p.E492*|ZNF74_uc010gsn.2_Nonsense_Mutation_p.E492*	NM_003426	NP_003417	Q16587	ZNF74_HUMAN	zinc finger protein 74	563	C2H2-type 12.				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	actin cytoskeleton|nucleus	DNA binding|RNA binding|zinc ion binding			ovary(1)	1	Melanoma(16;0.000465)|Ovarian(15;0.0025)|Colorectal(54;0.0221)|all_neural(72;0.219)	Lung SC(17;0.0262)|all_lung(157;0.248)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			GAAATGTGGGGAGATGTTCAA	0.463												
RTDR1	27156	broad.mit.edu	37	22	23404006	23404006	+	Silent	SNP	G	G	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr22:23404006G>A	uc002zwt.2	-	6	929	c.771C>T	c.(769-771)TTC>TTT	p.F257F		NM_014433	NP_055248	Q9UHP6	RTDR1_HUMAN	rhabdoid tumor deletion region protein 1	257							binding			ovary(1)	1	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.175)		TCACTGTGGCGAACATCAGGG	0.582												
CYTSA	23384	broad.mit.edu	37	22	24717611	24717611	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr22:24717611G>T	uc002zzw.2	+	5	970	c.663G>T	c.(661-663)GAG>GAT	p.E221D	CYTSA_uc002zzv.3_Missense_Mutation_p.E221D|CYTSA_uc011ajq.1_Missense_Mutation_p.E221D	NM_015330	NP_056145	Q69YQ0	CYTSA_HUMAN	cytospin A	221	Potential.				cell cycle|cell division						0						ATCATTCTGAGGGTGATGAAA	0.448												
SGSM1	129049	broad.mit.edu	37	22	25294421	25294421	+	Silent	SNP	G	G	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr22:25294421G>A	uc003abg.2	+	20	2827	c.2670G>A	c.(2668-2670)TCG>TCA	p.S890S	SGSM1_uc003abh.2_Silent_p.S829S|SGSM1_uc010guu.1_Silent_p.S835S|SGSM1_uc003abj.2_Silent_p.S774S|SGSM1_uc003abi.1_Silent_p.S810S	NM_001039948	NP_001035037	Q2NKQ1	SGSM1_HUMAN	RUN and TBC1 domain containing 2 isoform 1	890	Rab-GAP TBC.					Golgi apparatus	Rab GTPase activator activity			ovary(2)|central_nervous_system(2)|pancreas(1)	5						ACAACCTCTCGGAGGAGCCTG	0.587												
ADRBK2	157	broad.mit.edu	37	22	26086188	26086188	+	Silent	SNP	C	C	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr22:26086188C>T	uc003abx.3	+	12	1137	c.990C>T	c.(988-990)CAC>CAT	p.H330H	ADRBK2_uc010gux.2_Silent_p.H330H|ADRBK2_uc003abw.2_Silent_p.H217H|ADRBK2_uc003aby.3_RNA	NM_005160	NP_005151	P35626	ARBK2_HUMAN	beta-adrenergic receptor kinase 2	330	Protein kinase.						ATP binding|beta-adrenergic receptor kinase activity|signal transducer activity			lung(3)|ovary(2)|stomach(1)|central_nervous_system(1)	7					Adenosine triphosphate(DB00171)	AACATGGACACGCAAGAATAT	0.418												
TFIP11	24144	broad.mit.edu	37	22	26895229	26895229	+	Silent	SNP	G	G	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr22:26895229G>A	uc003acr.2	-	8	1544	c.1170C>T	c.(1168-1170)GAC>GAT	p.D390D	TFIP11_uc003acs.2_Silent_p.D390D|TFIP11_uc003act.2_Silent_p.D390D	NM_012143	NP_036275	Q9UBB9	TFP11_HUMAN	tuftelin interacting protein 11	390					biomineral tissue development	catalytic step 2 spliceosome|cytoplasm|nuclear speck	DNA binding|sequence-specific DNA binding transcription factor activity				0						GGTTGCTGCAGTCGGGCTGCA	0.607												
CHEK2	11200	broad.mit.edu	37	22	29120963	29120963	+	Splice_Site	SNP	A	A	G			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr22:29120963A>G	uc003adu.1	-	4	664	c.592_splice	c.e4+1	p.V198_splice	CHEK2_uc003ads.1_Intron|CHEK2_uc010gvh.1_Intron|CHEK2_uc010gvi.1_Splice_Site_p.V198_splice|CHEK2_uc010gvj.1_Intron|CHEK2_uc003adr.1_Splice_Site|CHEK2_uc010gvk.1_Splice_Site|CHEK2_uc003adt.1_Splice_Site_p.V241_splice|CHEK2_uc003adv.1_Splice_Site_p.V198_splice|CHEK2_uc003adw.1_Splice_Site_p.V198_splice|CHEK2_uc003adx.1_Splice_Site|CHEK2_uc003ady.1_Splice_Site_p.V198_splice|CHEK2_uc003adz.1_Intron	NM_007194	NP_009125	O96017	CHK2_HUMAN	protein kinase CHK2 isoform a						cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(17)|stomach(1)|ovary(1)|lung(1)	20						TAATAATATTACCTTTATTTC	0.343			F			breast 		Direct_reversal_of_damage|Other_conserved_DNA_damage_response_genes	Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|CHEK2-associated_cancer			
EWSR1	2130	broad.mit.edu	37	22	29695771	29695771	+	Missense_Mutation	SNP	C	C	G			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr22:29695771C>G	uc003aet.2	+	16	2189	c.1861C>G	c.(1861-1863)CCC>GCC	p.P621A	EWSR1_uc003aev.2_Missense_Mutation_p.P626A|EWSR1_uc003aew.2_Missense_Mutation_p.P565A|EWSR1_uc003aex.2_Missense_Mutation_p.P620A|EWSR1_uc003aey.2_Missense_Mutation_p.P416A|EWSR1_uc003aez.2_Missense_Mutation_p.P282A	NM_005243	NP_005234	Q01844	EWS_HUMAN	Ewing sarcoma breakpoint region 1 isoform 2	621	Arg/Gly/Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	calmodulin binding|nucleotide binding|RNA binding|zinc ion binding		EWSR1/FLI1(2266)|EWSR1/ATF1(323)|EWSR1/WT1(231)|EWSR1/ERG(162)|EWSR1/NR4A3(140)|EWSR1/DDIT3(43)|EWSR1/CREB1(42)|EWSR1/FEV(10)|EWSR1/POU5F1(10)|EWSR1/ETV1(7)|EWSR1/ETV4(6)|EWSR1/ZNF384(4)|EWSR1/PBX1(3)|EWSR1/SP3(3)|EWSR1/PATZ1(2)	bone(2526)|soft_tissue(702)|skin(8)|autonomic_ganglia(4)|haematopoietic_and_lymphoid_tissue(4)|salivary_gland(2)|central_nervous_system(2)|NS(2)|pancreas(2)|lung(1)|ovary(1)	3254						CCCTGGGGGGCCCCCTGGACC	0.607			T	FLI1|ERG|ZNF278|NR4A3|FEV|ATF1|ETV1|ETV4|WT1|ZNF384|CREB1|POU5F1| PBX1	Ewing sarcoma| desmoplastic small round cell tumor |ALL|clear cell sarcoma|sarcoma|myoepithelioma							
RNF215	200312	broad.mit.edu	37	22	30780336	30780336	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr22:30780336G>T	uc003ahp.2	-	5	736	c.736C>A	c.(736-738)CAG>AAG	p.Q246K	RNF215_uc011akw.1_Missense_Mutation_p.Q151K	NM_001017981	NP_001017981	Q9Y6U7	RN215_HUMAN	ring finger protein 215	246	Extracellular (Potential).					integral to membrane	zinc ion binding			central_nervous_system(1)	1						ACCTGCTCCTGGGCACGACTG	0.557												
DEPDC5	9681	broad.mit.edu	37	22	32239152	32239152	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr22:32239152G>A	uc003als.2	+	28	2702	c.2560G>A	c.(2560-2562)GTG>ATG	p.V854M	DEPDC5_uc011als.1_Missense_Mutation_p.V785M|DEPDC5_uc011alu.1_Missense_Mutation_p.V863M|DEPDC5_uc011alv.1_RNA|DEPDC5_uc003alt.2_Missense_Mutation_p.V854M|DEPDC5_uc003alu.2_Missense_Mutation_p.V303M|DEPDC5_uc003alv.2_RNA|DEPDC5_uc011alw.1_Missense_Mutation_p.V184M|DEPDC5_uc003alw.2_Missense_Mutation_p.V152M|DEPDC5_uc011alx.1_Intron|DEPDC5_uc010gwk.2_5'Flank	NM_014662	NP_055477	O75140	DEPD5_HUMAN	DEP domain containing 5 isoform 1	854					intracellular signal transduction					ovary(4)|central_nervous_system(3)|pancreas(1)	8						GTTCCACAAAGTGACGCTGAA	0.443												
SYN3	8224	broad.mit.edu	37	22	33327401	33327401	+	Silent	SNP	G	G	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr22:33327401G>A	uc003amx.2	-	3	594	c.435C>T	c.(433-435)GTC>GTT	p.V145V	SYN3_uc003amy.2_Silent_p.V145V|SYN3_uc003amz.2_Silent_p.V145V	NM_003490	NP_003481	O14994	SYN3_HUMAN	synapsin III isoform IIIa	145	C; actin-binding and synaptic-vesicle binding.				neurotransmitter secretion	cell junction|synaptic vesicle membrane	ATP binding|ligase activity			skin(1)	1						CATTTCTCACGACCTGCATGT	0.473												
CARD10	29775	broad.mit.edu	37	22	37914112	37914112	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr22:37914112C>T	uc003asx.1	-	2	242	c.239G>A	c.(238-240)CGC>CAC	p.R80H	CARD10_uc003ast.1_RNA|CARD10_uc003asy.1_Missense_Mutation_p.R80H	NM_014550	NP_055365	Q9BWT7	CAR10_HUMAN	caspase recruitment domain protein 10	80	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)					GTCCATCAGGCGCCCTACAGA	0.637												
SUN2	25777	broad.mit.edu	37	22	39141791	39141791	+	Silent	SNP	C	C	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr22:39141791C>T	uc003awh.1	-	9	995	c.711G>A	c.(709-711)GGG>GGA	p.G237G	SUN2_uc011anz.1_Silent_p.G272G|SUN2_uc011aoa.1_Silent_p.G226G|SUN2_uc003awi.1_Silent_p.G237G|SUN2_uc010gxq.1_Silent_p.G258G|SUN2_uc010gxr.1_Silent_p.G237G|SUN2_uc010gxs.1_Silent_p.G237G	NM_015374	NP_056189	Q9UH99	SUN2_HUMAN	unc-84 homolog B	237	Perinuclear space.				centrosome localization|cytoskeletal anchoring at nuclear membrane|mitotic spindle organization|nuclear envelope organization|nuclear matrix anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	endosome membrane|integral to membrane|nuclear inner membrane|SUN-KASH complex	lamin binding|microtubule binding			large_intestine(1)|skin(1)	2						ATGTCTGCAGCCCATAGGGGT	0.617												
CBX6	23466	broad.mit.edu	37	22	39262866	39262866	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr22:39262866G>A	uc003awl.2	-	5	650	c.587C>T	c.(586-588)GCG>GTG	p.A196V		NM_014292	NP_055107	O95503	CBX6_HUMAN	chromobox homolog 6	196					chromatin modification|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	PcG protein complex					0	Melanoma(58;0.04)					gcgggccagcgccccggcccc	0.448												
SLC25A17	10478	broad.mit.edu	37	22	41173356	41173356	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr22:41173356C>T	uc003azc.2	-	6	613	c.473G>A	c.(472-474)CGC>CAC	p.R158H	SLC25A17_uc010gyg.2_RNA|SLC25A17_uc011aou.1_Missense_Mutation_p.R121H|SLC25A17_uc003azd.2_RNA|SLC25A17_uc011aov.1_Missense_Mutation_p.R85H	NM_006358	NP_006349	O43808	PM34_HUMAN	solute carrier family 25 (mitochondrial carrier;	158	Lumenal (Potential).|Solcar 2.				fatty acid alpha-oxidation	integral to plasma membrane|mitochondrial inner membrane|peroxisomal membrane	adenine nucleotide transmembrane transporter activity|protein binding				0						TCCTTCATCGCGAATGATCTG	0.403												
XRCC6	2547	broad.mit.edu	37	22	42032527	42032527	+	Silent	SNP	A	A	G			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr22:42032527A>G	uc003bao.1	+	5	412	c.342A>G	c.(340-342)AAA>AAG	p.K114K	XRCC6_uc003bap.1_Silent_p.K73K|XRCC6_uc011apc.1_Silent_p.K64K|XRCC6_uc003baq.1_Silent_p.K114K|XRCC6_uc003bar.1_Silent_p.K114K|XRCC6_uc003bas.1_Silent_p.K64K	NM_001469	NP_001460	P12956	XRCC6_HUMAN	ATP-dependent DNA helicase II, 70 kDa subunit	114					DNA ligation|double-strand break repair via nonhomologous end joining|initiation of viral infection|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|provirus integration|telomere maintenance|transcription, DNA-dependent	DNA-dependent protein kinase-DNA ligase 4 complex|Ku70:Ku80 complex|membrane fraction|nuclear telomere cap complex|transcription factor complex	5'-deoxyribose-5-phosphate lyase activity|ATP binding|ATP-dependent DNA helicase activity|double-stranded DNA binding|protein C-terminus binding|transcription regulatory region DNA binding			skin(2)|ovary(1)|lung(1)|kidney(1)	5						CAGGTGCAAAACGAATTCTAG	0.463								Direct_reversal_of_damage|NHEJ				
MEI1	150365	broad.mit.edu	37	22	42125712	42125712	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr22:42125712A>G	uc003baz.1	+	8	933	c.908A>G	c.(907-909)CAC>CGC	p.H303R	WBP2NL_uc011ape.1_Intron|LOC339674_uc003bba.1_Intron|MEI1_uc003bay.3_Missense_Mutation_p.H303R|MEI1_uc011apd.1_RNA	NM_152513	NP_689726	Q5TIA1	MEI1_HUMAN	meiosis defective 1	303							binding			central_nervous_system(1)|skin(1)	2						GCCAGTGCTCACTGTATAACT	0.527												
MEI1	150365	broad.mit.edu	37	22	42191805	42191805	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr22:42191805C>A	uc003baz.1	+	30	3758	c.3733C>A	c.(3733-3735)CTT>ATT	p.L1245I	WBP2NL_uc011ape.1_Intron|LOC339674_uc003bba.1_Intron|MEI1_uc011apd.1_RNA|MEI1_uc003bbb.1_Missense_Mutation_p.L631I|MEI1_uc003bbc.1_Missense_Mutation_p.L613I|MEI1_uc010gym.1_Missense_Mutation_p.L578I|MEI1_uc003bbd.1_Missense_Mutation_p.L458I|MEI1_uc010gyn.1_RNA|MEI1_uc003bbe.1_RNA|MEI1_uc003bbf.2_Missense_Mutation_p.L259I|MEI1_uc003bbg.2_Missense_Mutation_p.L215I	NM_152513	NP_689726	Q5TIA1	MEI1_HUMAN	meiosis defective 1	1245							binding			central_nervous_system(1)|skin(1)	2						CTTGGAGGGCCTTCCCCCTAG	0.602												
SCUBE1	80274	broad.mit.edu	37	22	43616498	43616498	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr22:43616498T>C	uc003bdt.1	-	14	1733	c.1645A>G	c.(1645-1647)ACA>GCA	p.T549A		NM_173050	NP_766638	Q8IWY4	SCUB1_HUMAN	signal peptide, CUB domain, EGF-like 1	549					adult heart development|blood coagulation|endothelial cell differentiation|inflammatory response|post-embryonic development|protein homooligomerization	external side of plasma membrane|extracellular space|extrinsic to plasma membrane	calcium ion binding|identical protein binding|protein heterodimerization activity			central_nervous_system(2)|ovary(1)|lung(1)|skin(1)	5		all_neural(38;0.0414)|Ovarian(80;0.07)				AACTCTGCTGTGATGTGGGAC	0.582												
GRAMD4	23151	broad.mit.edu	37	22	47073062	47073062	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr22:47073062A>G	uc003bhx.2	+	18	1690	c.1651A>G	c.(1651-1653)ATG>GTG	p.M551V	GRAMD4_uc010had.2_Missense_Mutation_p.M467V|GRAMD4_uc003bhy.2_Missense_Mutation_p.M74V	NM_015124	NP_055939	Q6IC98	GRAM4_HUMAN	death-inducing-protein	551					apoptosis	integral to membrane|mitochondrial membrane				ovary(1)	1		Breast(42;0.00571)|Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)|BRCA - Breast invasive adenocarcinoma(115;0.166)		GTTTGGTGCCATGGTGCACAG	0.597												
TUBGCP6	85378	broad.mit.edu	37	22	50667976	50667976	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr22:50667976C>T	uc003bkb.1	-	4	1659	c.1147G>A	c.(1147-1149)GTC>ATC	p.V383I	TUBGCP6_uc010har.1_Missense_Mutation_p.V383I|TUBGCP6_uc010has.1_RNA	NM_020461	NP_065194	Q96RT7	GCP6_HUMAN	tubulin, gamma complex associated protein 6	383					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)		GACACGTGGACGCCCCGCTTC	0.642												
LRRN1	57633	broad.mit.edu	37	3	3886509	3886509	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr3:3886509C>T	uc003bpt.3	+	2	945	c.184C>T	c.(184-186)CGC>TGC	p.R62C	SUMF1_uc003bps.1_Intron	NM_020873	NP_065924	Q6UXK5	LRRN1_HUMAN	leucine rich repeat neuronal 1 precursor	62	LRRNT.|Extracellular (Potential).					integral to membrane				central_nervous_system(1)	1				Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617)		CAATGACCTCCGCTTAACAAG	0.458												
EDEM1	9695	broad.mit.edu	37	3	5244713	5244713	+	Silent	SNP	T	T	C			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr3:5244713T>C	uc003bqi.2	+	5	1053	c.921T>C	c.(919-921)GGT>GGC	p.G307G	EDEM1_uc011asz.1_Silent_p.G85G|EDEM1_uc003bqh.2_Silent_p.G307G	NM_014674	NP_055489	Q92611	EDEM1_HUMAN	ER degradation enhancer, mannosidase alpha-like	307	Lumenal (Potential).				ER-associated protein catabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein	integral to endoplasmic reticulum membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding			ovary(2)|breast(1)	3				Epithelial(13;0.0588)|OV - Ovarian serous cystadenocarcinoma(96;0.0682)		CGGGAGCCGGTTCCCTCCTGG	0.532												
GRM7	2917	broad.mit.edu	37	3	6903265	6903265	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr3:6903265G>A	uc003bqm.2	+	1	464	c.190G>A	c.(190-192)GGA>AGA	p.G64R	GRM7_uc011ata.1_RNA|GRM7_uc011atb.1_RNA|GRM7_uc010hcf.2_RNA|GRM7_uc011atc.1_RNA|GRM7_uc010hcg.2_Missense_Mutation_p.G64R|GRM7_uc003bql.2_Missense_Mutation_p.G64R	NM_000844	NP_000835	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7 isoform a	64	Extracellular (Potential).				negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding			ovary(4)|lung(3)	7					L-Glutamic Acid(DB00142)	GGGTCCCAGCGGAGTGCCCTG	0.662												
TADA3	10474	broad.mit.edu	37	3	9822157	9822157	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr3:9822157A>C	uc003bsx.1	-	9	1731	c.1183T>G	c.(1183-1185)TTT>GTT	p.F395V	TADA3_uc010hcn.1_Missense_Mutation_p.F395V|TADA3_uc003bsw.1_Missense_Mutation_p.F224V	NM_006354	NP_006345	O75528	TADA3_HUMAN	transcriptional adaptor 3 isoform a	395	Potential.				estrogen receptor signaling pathway|histone H3 acetylation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex|STAGA complex|transcription factor TFTC complex	ligand-dependent nuclear receptor binding|protein domain specific binding|sequence-specific DNA binding transcription factor activity				0						ATCTTGCGAAAGGCGTCCATG	0.612												
SEC13	6396	broad.mit.edu	37	3	10346789	10346789	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr3:10346789A>C	uc003bvn.2	-	7	755	c.636T>G	c.(634-636)AGT>AGG	p.S212R	SEC13_uc003bvl.2_Missense_Mutation_p.S144R|SEC13_uc003bvm.2_Missense_Mutation_p.S198R|SEC13_uc003bvp.2_Missense_Mutation_p.S215R|SEC13_uc003bvo.2_Missense_Mutation_p.S258R|SEC13_uc003bvq.1_Missense_Mutation_p.S198R|SEC13_uc003bvr.1_Missense_Mutation_p.S198R	NM_183352	NP_899195	P55735	SEC13_HUMAN	SEC13 protein isoform 1	212	WD 5.				COPII vesicle coating|intracellular protein transport|mitotic prometaphase|mRNA transport|post-translational protein modification|protein N-linked glycosylation via asparagine|transmembrane transport	cytosol|endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Nup107-160 complex	protein binding			ovary(1)	1						GAACCCAGTCACTGTGCGCTT	0.632												
ATP2B2	491	broad.mit.edu	37	3	10382234	10382234	+	Silent	SNP	G	G	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr3:10382234G>A	uc003bvt.2	-	20	3511	c.3072C>T	c.(3070-3072)GAC>GAT	p.D1024D	ATP2B2_uc003bvv.2_Silent_p.D979D|ATP2B2_uc003bvw.2_Silent_p.D979D|ATP2B2_uc010hdo.2_Silent_p.D729D	NM_001001331	NP_001001331	Q01814	AT2B2_HUMAN	plasma membrane calcium ATPase 2 isoform 1	1024	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						GGAAGATGCCGTCAAAGACAT	0.572												
ATP2B2	491	broad.mit.edu	37	3	10387133	10387133	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr3:10387133G>A	uc003bvt.2	-	18	3077	c.2638C>T	c.(2638-2640)CAG>TAG	p.Q880*	ATP2B2_uc003bvv.2_Nonsense_Mutation_p.Q835*|ATP2B2_uc003bvw.2_Nonsense_Mutation_p.Q835*|ATP2B2_uc010hdo.2_Nonsense_Mutation_p.Q585*	NM_001001331	NP_001001331	Q01814	AT2B2_HUMAN	plasma membrane calcium ATPase 2 isoform 1	880	Helical; (Potential).				ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|ATP binding|calcium ion binding|calcium-transporting ATPase activity|calcium-transporting ATPase activity|calmodulin binding|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding			ovary(3)|skin(2)|central_nervous_system(1)	6						AGCTGGAACTGCAAGAATTTG	0.582												
NUP210	23225	broad.mit.edu	37	3	13383334	13383334	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr3:13383334C>T	uc003bxv.1	-	23	3225	c.3142G>A	c.(3142-3144)GGT>AGT	p.G1048S		NM_024923	NP_079199	Q8TEM1	PO210_HUMAN	nucleoporin 210 precursor	1048	Lumenal (Probable).				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				ovary(3)|large_intestine(3)|skin(3)|pancreas(1)|liver(1)	11	all_neural(104;0.187)					ATGGCCACACCGCGGATGAGG	0.527												
C3orf20	84077	broad.mit.edu	37	3	14744763	14744763	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr3:14744763G>A	uc003byy.2	+	6	1276	c.872G>A	c.(871-873)CGC>CAC	p.R291H	C3orf20_uc003byz.2_Missense_Mutation_p.R169H|C3orf20_uc003bza.2_Missense_Mutation_p.R169H|C3orf20_uc003byx.1_Missense_Mutation_p.R291H	NM_032137	NP_115513	Q8ND61	CC020_HUMAN	hypothetical protein LOC84077	291						cytoplasm|integral to membrane				ovary(3)|skin(1)	4						GAGTTGTGTCGCCACATGTGA	0.627												
FGD5	152273	broad.mit.edu	37	3	14939591	14939591	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr3:14939591C>T	uc003bzc.2	+	6	3165	c.3055C>T	c.(3055-3057)CGT>TGT	p.R1019C	FGD5_uc011avk.1_Missense_Mutation_p.R1019C|FGD5_uc003bzd.2_Missense_Mutation_p.R97C	NM_152536	NP_689749	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	1019	DH.				actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			ovary(3)|kidney(1)|pancreas(1)	5						AGCTGCTGTCCGTGAATTTGA	0.567												
RARB	5915	broad.mit.edu	37	3	25502773	25502773	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr3:25502773G>A	uc011awl.1	+	2	334	c.268G>A	c.(268-270)GTC>ATC	p.V90I	RARB_uc003cdi.1_5'UTR|RARB_uc003cdh.2_Missense_Mutation_p.V83I	NM_016152	NP_057236	P10826	RARB_HUMAN	retinoic acid receptor, beta isoform 2	90	NR C4-type.|Nuclear receptor.		V -> I (in a colorectal cancer sample; somatic mutation).		embryonic digestive tract development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	protein binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	p.V83I(1)		ovary(1)|large_intestine(1)|pancreas(1)	3					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tamibarotene(DB04942)|Tazarotene(DB00799)	ACCCTGCTTCGTCTGCCAGGA	0.517												
TOP2B	7155	broad.mit.edu	37	3	25665821	25665821	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr3:25665821G>A	uc011awn.1	-	20	2505	c.2462C>T	c.(2461-2463)GCT>GTT	p.A821V	TOP2B_uc003cdj.2_Missense_Mutation_p.A816V	NM_001068	NP_001059	Q02880	TOP2B_HUMAN	DNA topoisomerase II, beta isozyme	821					DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|resolution of meiotic recombination intermediates|sister chromatid segregation	cytosol|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex|WINAC complex	ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity			breast(2)|ovary(1)|lung(1)|skin(1)	5						AGGGCTTGCAGCATCTTTGCC	0.363												
LRRC3B	116135	broad.mit.edu	37	3	26751789	26751789	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr3:26751789C>T	uc003cdp.2	+	2	1215	c.626C>T	c.(625-627)ACC>ATC	p.T209I	LRRC3B_uc003cdq.2_Missense_Mutation_p.T209I	NM_052953	NP_443185	Q96PB8	LRC3B_HUMAN	leucine rich repeat containing 3B precursor	209	Helical; (Potential).					integral to membrane				pancreas(2)|ovary(1)|skin(1)	4						ATGCTGGTCACCATGTTTGGC	0.468												
SLC4A7	9497	broad.mit.edu	37	3	27453218	27453218	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr3:27453218A>G	uc003cdv.2	-	12	1725	c.1654T>C	c.(1654-1656)TTT>CTT	p.F552L	SLC4A7_uc011awu.1_RNA|SLC4A7_uc011awv.1_RNA|SLC4A7_uc003cdu.3_Missense_Mutation_p.F433L|SLC4A7_uc011aww.1_Missense_Mutation_p.F561L|SLC4A7_uc011awx.1_Missense_Mutation_p.F548L|SLC4A7_uc011awy.1_Missense_Mutation_p.F544L|SLC4A7_uc011awz.1_RNA|SLC4A7_uc011axa.1_Missense_Mutation_p.F433L|SLC4A7_uc011axb.1_Missense_Mutation_p.F548L|SLC4A7_uc010hfl.2_Missense_Mutation_p.F102L|SLC4A7_uc003cdw.2_Missense_Mutation_p.F428L	NM_003615	NP_003606	Q9Y6M7	S4A7_HUMAN	solute carrier family 4, sodium bicarbonate	552	Extracellular (Potential).					apical plasma membrane|basolateral plasma membrane|integral to membrane|stereocilium	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			ovary(3)|central_nervous_system(1)|skin(1)	5						CCATTGTGAAACACAGGAATC	0.413												
SLC4A7	9497	broad.mit.edu	37	3	27463207	27463207	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr3:27463207C>T	uc003cdv.2	-	9	1374	c.1303G>A	c.(1303-1305)GAA>AAA	p.E435K	SLC4A7_uc011awu.1_RNA|SLC4A7_uc011awv.1_RNA|SLC4A7_uc003cdu.3_Missense_Mutation_p.E316K|SLC4A7_uc011aww.1_Missense_Mutation_p.E444K|SLC4A7_uc011awx.1_Missense_Mutation_p.E431K|SLC4A7_uc011awy.1_Missense_Mutation_p.E427K|SLC4A7_uc011awz.1_RNA|SLC4A7_uc011axa.1_Missense_Mutation_p.E316K|SLC4A7_uc011axb.1_Missense_Mutation_p.E431K|SLC4A7_uc010hfl.2_Intron|SLC4A7_uc003cdw.2_Missense_Mutation_p.E311K	NM_003615	NP_003606	Q9Y6M7	S4A7_HUMAN	solute carrier family 4, sodium bicarbonate	435	Extracellular (Potential).					apical plasma membrane|basolateral plasma membrane|integral to membrane|stereocilium	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			ovary(3)|central_nervous_system(1)|skin(1)	5						AAGTCTACTTCGCCCACCAGG	0.423												
CNOT10	25904	broad.mit.edu	37	3	32769301	32769301	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr3:32769301A>G	uc003cfc.1	+	10	1409	c.1154A>G	c.(1153-1155)TAT>TGT	p.Y385C	CNOT10_uc011axi.1_Missense_Mutation_p.Y157C|CNOT10_uc003cfd.1_Missense_Mutation_p.Y384C|CNOT10_uc003cfe.1_Missense_Mutation_p.Y385C|CNOT10_uc010hfv.1_RNA|CNOT10_uc011axj.1_Missense_Mutation_p.Y445C|CNOT10_uc010hfw.1_Missense_Mutation_p.Y80C	NM_015442	NP_056257	Q9H9A5	CNOTA_HUMAN	CCR4-NOT transcription complex, subunit 10	385					nuclear-transcribed mRNA poly(A) tail shortening	cytosol	protein binding			central_nervous_system(1)|skin(1)	2						GTTCAGGTTTATCATGCAAAT	0.453												
CNOT10	25904	broad.mit.edu	37	3	32800967	32800967	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr3:32800967G>A	uc003cfc.1	+	14	1868	c.1613G>A	c.(1612-1614)TGC>TAC	p.C538Y	CNOT10_uc011axi.1_Missense_Mutation_p.C310Y|CNOT10_uc003cfd.1_Missense_Mutation_p.C537Y|CNOT10_uc003cfe.1_Missense_Mutation_p.C511Y|CNOT10_uc010hfv.1_RNA|CNOT10_uc011axj.1_Missense_Mutation_p.C598Y|CNOT10_uc010hfw.1_Missense_Mutation_p.C233Y	NM_015442	NP_056257	Q9H9A5	CNOTA_HUMAN	CCR4-NOT transcription complex, subunit 10	538					nuclear-transcribed mRNA poly(A) tail shortening	cytosol	protein binding			central_nervous_system(1)|skin(1)	2						ATACTTGCTTGCAGTGCCTAC	0.418												
TMPPE	643853	broad.mit.edu	37	3	33134737	33134737	+	Silent	SNP	A	A	G			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr3:33134737A>G	uc003cfk.2	-	2	1142	c.951T>C	c.(949-951)GGT>GGC	p.G317G	GLB1_uc003cfh.1_Intron|GLB1_uc003cfi.1_Intron|GLB1_uc003cfj.1_Intron|GLB1_uc011axk.1_Intron|TMPPE_uc011axl.1_Silent_p.G180G	NM_001039770	NP_001034859	Q6ZT21	TMPPE_HUMAN	transmembrane protein with	317						integral to membrane	metal ion binding				0						TGCCACTGCCACCACCACCAC	0.547												
CRTAP	10491	broad.mit.edu	37	3	33165913	33165913	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr3:33165913G>A	uc003cfl.3	+	3	755	c.635G>A	c.(634-636)CGA>CAA	p.R212Q	CRTAP_uc010hfz.2_Missense_Mutation_p.R212Q|CRTAP_uc003cfm.2_Missense_Mutation_p.R33Q|CRTAP_uc003cfn.2_Missense_Mutation_p.R33Q	NM_006371	NP_006362	O75718	CRTAP_HUMAN	cartilage associated protein precursor	212						proteinaceous extracellular matrix	binding				0						CTGTTCATCCGAGCAGTGCGG	0.532												
SUSD5	26032	broad.mit.edu	37	3	33194480	33194480	+	Silent	SNP	C	C	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr3:33194480C>T	uc003cfo.1	-	5	2062	c.1644G>A	c.(1642-1644)GGG>GGA	p.G548G		NM_015551	NP_056366	O60279	SUSD5_HUMAN	sushi domain containing 5 precursor	548	Extracellular (Potential).				cell adhesion	integral to membrane	hyaluronic acid binding			ovary(1)|central_nervous_system(1)	2						TTGCACCTGGCCCGGGGCCTT	0.587												
TRANK1	9881	broad.mit.edu	37	3	36897095	36897095	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr3:36897095T>G	uc003cgj.2	-	3	2638	c.2336A>C	c.(2335-2337)TAT>TCT	p.Y779S		NM_014831	NP_055646	O15050	TRNK1_HUMAN	lupus brain antigen 1	1329					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			ovary(1)|central_nervous_system(1)	2						TAATTTCTTATATACTTCTTC	0.453												
ACVR2B	93	broad.mit.edu	37	3	38519934	38519934	+	Silent	SNP	T	T	C			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr3:38519934T>C	uc003cif.2	+	5	615	c.591T>C	c.(589-591)GCT>GCC	p.A197A	ACVR2B_uc003cig.2_5'UTR	NM_001106	NP_001097	Q13705	AVR2B_HUMAN	activin A receptor, type IIB precursor	197	ATP (By similarity).|Cytoplasmic (Potential).|Protein kinase.				activin receptor signaling pathway|anterior/posterior pattern formation|BMP signaling pathway|positive regulation of activin receptor signaling pathway|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|regulation of transcription, DNA-dependent	cell surface|cytoplasm|integral to plasma membrane	activin receptor activity|ATP binding|growth factor binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|transforming growth factor beta receptor activity			lung(1)	1	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0565)|Kidney(284;0.071)		AGATCAAGGCTCGGGGGCGCT	0.592												
SCN10A	6336	broad.mit.edu	37	3	38802798	38802798	+	Silent	SNP	G	G	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr3:38802798G>A	uc003ciq.2	-	6	768	c.768C>T	c.(766-768)TGC>TGT	p.C256C		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha	256	Helical; Name=S5 of repeat I; (Potential).|I.				sensory perception	voltage-gated sodium channel complex				ovary(5)|skin(3)|large_intestine(1)|kidney(1)	10				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	AAACACTTAGGCAGAAGATGG	0.483												
C3orf75	54859	broad.mit.edu	37	3	47537600	47537600	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr3:47537600C>T	uc003crk.2	-	7	879	c.760G>A	c.(760-762)GTG>ATG	p.V254M	C3orf75_uc003crj.2_Missense_Mutation_p.V181M|C3orf75_uc011bba.1_Missense_Mutation_p.V205M	NM_001031703	NP_001026873	Q0PNE2	CC075_HUMAN	transmembrane protein 103	254											0						AAAAAGGACACGCTTTTGTCC	0.498												
PLXNB1	5364	broad.mit.edu	37	3	48459755	48459755	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr3:48459755A>G	uc003csw.2	-	15	3337	c.3067T>C	c.(3067-3069)TCC>CCC	p.S1023P	PLXNB1_uc003csu.2_Missense_Mutation_p.S840P|PLXNB1_uc003csx.2_Missense_Mutation_p.S1023P|PLXNB1_uc010hjx.1_RNA|PLXNB1_uc003csy.1_5'Flank	NM_002673	NP_002664	O43157	PLXB1_HUMAN	plexin B1 precursor	1023	Extracellular (Potential).				axon guidance|cell migration|intracellular signal transduction|regulation of cell shape|regulation of cytoskeleton organization|regulation of small GTPase mediated signal transduction|semaphorin-plexin signaling pathway	extracellular region|integral to plasma membrane|intracellular|semaphorin receptor complex	GTPase activator activity|semaphorin receptor activity|semaphorin receptor binding			ovary(2)|pancreas(1)|breast(1)|skin(1)	5				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		TGTCCCACGGAACAGTCATAC	0.652												
COL7A1	1294	broad.mit.edu	37	3	48628013	48628013	+	Silent	SNP	C	C	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr3:48628013C>T	uc003ctz.2	-	14	1786	c.1785G>A	c.(1783-1785)CCG>CCA	p.P595P		NM_000094	NP_000085	Q02388	CO7A1_HUMAN	alpha 1 type VII collagen precursor	595	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)		GTGGAGTTTCCGGCTCTAGGA	0.607												
P4HTM	54681	broad.mit.edu	37	3	49038942	49038942	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr3:49038942C>T	uc003cvg.2	+	3	857	c.508C>T	c.(508-510)CGC>TGC	p.R170C	P4HTM_uc003cvh.2_Missense_Mutation_p.R170C|P4HTM_uc010hkm.1_Missense_Mutation_p.R56C	NM_177939	NP_808808	Q9NXG6	P4HTM_HUMAN	hypoxia-inducible factor prolyl 4-hydroxylase	170	Lumenal (Potential).					endoplasmic reticulum membrane|integral to membrane	calcium ion binding|iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			skin(1)|pancreas(1)	2					Vitamin C(DB00126)	GGGGTTACAGCGCAGCCAGAT	0.567												
WDR6	11180	broad.mit.edu	37	3	49051263	49051263	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr3:49051263G>A	uc003cvj.2	+	2	2524	c.2386G>A	c.(2386-2388)GCA>ACA	p.A796T	WDR6_uc011bbx.1_3'UTR|WDR6_uc011bby.1_Missense_Mutation_p.A244T|WDR6_uc010hkn.2_Missense_Mutation_p.A740T|WDR6_uc011bbz.1_Missense_Mutation_p.A715T	NM_018031	NP_060501	Q9NNW5	WDR6_HUMAN	WD repeat domain 6 protein	766	WD 12.				cell cycle arrest|negative regulation of cell proliferation	cytoplasm				central_nervous_system(1)	1				Kidney(197;9.12e-07)|KIRC - Kidney renal clear cell carcinoma(197;1.32e-05)|BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000155)		CTCAGCCCACGCACTCACAGC	0.577											OREG0015565	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
BSN	8927	broad.mit.edu	37	3	49693858	49693858	+	Missense_Mutation	SNP	C	C	T	rs5848870		TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr3:49693858C>T	uc003cxe.3	+	5	6983	c.6869C>T	c.(6868-6870)GCC>GTC	p.A2290V		NM_003458	NP_003449	Q9UPA5	BSN_HUMAN	bassoon protein	2290					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)		GCTGCCAAGGCCCCTGGGGCT	0.612												
MST1	4485	broad.mit.edu	37	3	49721545	49721545	+	Silent	SNP	T	T	C			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr3:49721545T>C	uc003cxg.2	-	18	2166	c.2094A>G	c.(2092-2094)GTA>GTG	p.V698V		NM_020998	NP_066278	P26927	HGFL_HUMAN	macrophage stimulating 1 (hepatocyte growth	684	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			lung(1)	1				BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		ACCTTGCGCATACTCGGTTGG	0.562												
BAP1	8314	broad.mit.edu	37	3	52443885	52443885	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr3:52443885C>A	uc003ddx.2	-	1	125	c.10G>T	c.(10-12)GGC>TGC	p.G4C	PHF7_uc003ddy.2_5'Flank|PHF7_uc003ddz.2_5'Flank	NM_004656	NP_004647	Q92560	BAP1_HUMAN	BRCA1 associated protein-1	4					monoubiquitinated histone H2A deubiquitination|negative regulation of cell proliferation|protein K48-linked deubiquitination|regulation of cell cycle|regulation of cell growth|ubiquitin-dependent protein catabolic process	cytoplasm|nucleolus|PR-DUB complex	chromatin binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			pleura(32)|eye(28)|lung(2)|ovary(2)|breast(1)	65				BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277)		TCCAGCCAGCCCTTATTCATC	0.761			N|Mis|F|S|O		uveal melanoma|breast|NSCLC							
SEMA3G	56920	broad.mit.edu	37	3	52472110	52472110	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr3:52472110A>G	uc003dea.1	-	14	1615	c.1615T>C	c.(1615-1617)TAC>CAC	p.Y539H		NM_020163	NP_064548	Q9NS98	SEM3G_HUMAN	semaphorin sem2 precursor	539					multicellular organismal development	extracellular region|membrane	receptor activity			ovary(2)	2				BRCA - Breast invasive adenocarcinoma(193;1.69e-05)|Kidney(197;0.00173)|KIRC - Kidney renal clear cell carcinoma(197;0.00196)|OV - Ovarian serous cystadenocarcinoma(275;0.0333)		CAGGCACAGTATGGGTCCCGG	0.672												
NISCH	11188	broad.mit.edu	37	3	52491918	52491918	+	Silent	SNP	C	C	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr3:52491918C>T	uc011beg.1	+	3	225	c.153C>T	c.(151-153)AGC>AGT	p.S51S	NISCH_uc003ded.3_Silent_p.S51S|NISCH_uc003dec.1_Silent_p.S51S	NM_007184	NP_009115	Q9Y2I1	NISCH_HUMAN	nischarin	51	PX.|Necessary for binding to phosphoinositide-3-P; not sufficient for targeting to endosomes.				apoptosis|cell communication	cytosol|early endosome|plasma membrane|recycling endosome	phosphatidylinositol binding|receptor activity			ovary(3)|central_nervous_system(1)	4				BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577)		ACCGCTACAGCGACTTCCATG	0.522												
DNASE1L3	1776	broad.mit.edu	37	3	58183580	58183580	+	Silent	SNP	C	C	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr3:58183580C>T	uc003djo.1	-	6	769	c.672G>A	c.(670-672)ACG>ACA	p.T224T	DNASE1L3_uc011bfd.1_Silent_p.T194T|DNASE1L3_uc003djp.1_Silent_p.T224T|DNASE1L3_uc003djq.1_Silent_p.T224T	NM_004944	NP_004935	Q13609	DNSL3_HUMAN	deoxyribonuclease I-like 3 precursor	224					apoptosis|DNA catabolic process	nucleus	calcium ion binding|DNA binding|endodeoxyribonuclease activity, producing 5'-phosphomonoesters			breast(2)|large_intestine(1)	3				BRCA - Breast invasive adenocarcinoma(55;0.00021)|KIRC - Kidney renal clear cell carcinoma(284;0.0445)|Kidney(284;0.0556)|OV - Ovarian serous cystadenocarcinoma(275;0.202)		TCTTCTTCACCGTGGTGTCCT	0.577												
ACOX2	8309	broad.mit.edu	37	3	58516206	58516206	+	Missense_Mutation	SNP	G	G	A	rs138459863		TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr3:58516206G>A	uc003dkl.2	-	8	1154	c.979C>T	c.(979-981)CGG>TGG	p.R327W		NM_003500	NP_003491	Q99424	ACOX2_HUMAN	acyl-Coenzyme A oxidase 2	327					bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	3alpha,7alpha,12alpha-trihydroxy-5beta-cholestanoyl-CoA 24-hydroxylase activity|acyl-CoA dehydrogenase activity|pristanoyl-CoA oxidase activity				0				BRCA - Breast invasive adenocarcinoma(55;0.000194)|Kidney(10;0.00255)|KIRC - Kidney renal clear cell carcinoma(10;0.00268)|OV - Ovarian serous cystadenocarcinoma(275;0.156)		GGCCGGAGCCGGGATTGGCGG	0.642												
SUCLG2	8801	broad.mit.edu	37	3	67568743	67568743	+	Silent	SNP	A	A	G			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr3:67568743A>G	uc003dna.3	-	6	616	c.588T>C	c.(586-588)TTT>TTC	p.F196F	SUCLG2_uc010hob.2_Silent_p.F77F	NM_003848	NP_003839	Q96I99	SUCB2_HUMAN	succinate-CoA ligase, GDP-forming beta subunit	196	ATP-grasp.				succinyl-CoA metabolic process|tricarboxylic acid cycle	mitochondrial matrix	ATP binding|GTP binding|succinate-CoA ligase (GDP-forming) activity			central_nervous_system(1)|skin(1)	2		Renal(2;0.00294)|Lung NSC(201;0.012)|Hepatocellular(537;0.121)		BRCA - Breast invasive adenocarcinoma(55;3.53e-05)|Epithelial(33;0.000153)	Succinic acid(DB00139)	TTATTCCTTCAAAAATGTCAA	0.378												
LMOD3	56203	broad.mit.edu	37	3	69171388	69171388	+	Silent	SNP	C	C	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr3:69171388C>A	uc003dns.2	-	1	359	c.150G>T	c.(148-150)GTG>GTT	p.V50V	LMOD3_uc003dnt.2_Silent_p.V50V	NM_198271	NP_938012	Q0VAK6	LMOD3_HUMAN	leiomodin 3 (fetal)	50						cytoplasm|cytoskeleton	tropomyosin binding			ovary(1)	1		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;7.88e-05)|Epithelial(33;0.000839)|LUSC - Lung squamous cell carcinoma(21;0.0119)|Lung(16;0.0191)|KIRC - Kidney renal clear cell carcinoma(39;0.205)|Kidney(39;0.24)		GAATCATTCCCACGGGAAGGC	0.443												
PDZRN3	23024	broad.mit.edu	37	3	73433392	73433392	+	Silent	SNP	G	G	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr3:73433392G>A	uc003dpl.1	-	10	2421	c.2325C>T	c.(2323-2325)CCC>CCT	p.P775P	PDZRN3_uc011bgh.1_Silent_p.P432P|PDZRN3_uc010hoe.1_Silent_p.P473P|PDZRN3_uc011bgf.1_Silent_p.P492P|PDZRN3_uc011bgg.1_Silent_p.P495P	NM_015009	NP_055824	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	775							ubiquitin-protein ligase activity|zinc ion binding			pancreas(2)|ovary(2)|skin(2)|large_intestine(1)	7		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		AGGAGTTGTCGGGGGAGATCT	0.647												
ROBO1	6091	broad.mit.edu	37	3	78663931	78663931	+	Silent	SNP	C	C	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr3:78663931C>T	uc003dqe.2	-	28	4510	c.4302G>A	c.(4300-4302)GCG>GCA	p.A1434A	ROBO1_uc003dqb.2_Silent_p.A1395A|ROBO1_uc003dqc.2_Silent_p.A1334A|ROBO1_uc003dqd.2_Silent_p.A1389A|ROBO1_uc010hoh.2_Silent_p.A626A|ROBO1_uc011bgl.1_Silent_p.A1006A	NM_002941	NP_002932	Q9Y6N7	ROBO1_HUMAN	roundabout 1 isoform a	1434	Cytoplasmic (Potential).				activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway	cell surface|cytoplasm|integral to plasma membrane	axon guidance receptor activity|identical protein binding|LRR domain binding			large_intestine(2)	2		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		GGCACTGAGACGCATGAAAAT	0.433												
OR5K4	403278	broad.mit.edu	37	3	98073327	98073327	+	Silent	SNP	C	C	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr3:98073327C>T	uc011bgv.1	+	1	630	c.630C>T	c.(628-630)ACC>ACT	p.T210T		NM_001005517	NP_001005517	A6NMS3	OR5K4_HUMAN	olfactory receptor, family 5, subfamily K,	210	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)	1						AAATCTTTACCATTGCTACTG	0.348												
OR5K3	403277	broad.mit.edu	37	3	98110293	98110293	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr3:98110293G>A	uc011bgw.1	+	1	784	c.784G>A	c.(784-786)GCA>ACA	p.A262T		NM_001005516	NP_001005516	A6NET4	OR5K3_HUMAN	olfactory receptor, family 5, subfamily K,	262	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0						TCGACCAGGTGCAGTTAATGA	0.353												
ST3GAL6	10402	broad.mit.edu	37	3	98510829	98510829	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr3:98510829A>T	uc003dsz.2	+	9	1137	c.901A>T	c.(901-903)ATG>TTG	p.M301L	ST3GAL6_uc003dsy.2_Missense_Mutation_p.M215L|ST3GAL6_uc003dta.2_Missense_Mutation_p.M183L|ST3GAL6_uc003dtb.2_Missense_Mutation_p.M157L|ST3GAL6_uc003dtc.2_Missense_Mutation_p.M301L|ST3GAL6_uc010hpd.2_Missense_Mutation_p.M354L	NM_006100	NP_006091	Q9Y274	SIA10_HUMAN	alpha2,3-sialyltransferase VI	301	Lumenal (Potential).				amino sugar metabolic process|glycolipid metabolic process|protein glycosylation|protein lipoylation	integral to Golgi membrane	sialyltransferase activity			ovary(1)	1						CATGTCTTTGATGAATAAGGT	0.358												
TBC1D23	55773	broad.mit.edu	37	3	100020962	100020962	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr3:100020962G>A	uc003dtt.2	+	11	1321	c.1144G>A	c.(1144-1146)GCA>ACA	p.A382T	TBC1D23_uc003dts.2_Missense_Mutation_p.A382T	NM_018309	NP_060779	Q9NUY8	TBC23_HUMAN	TBC1 domain family, member 23	382	Rhodanese.					intracellular	Rab GTPase activator activity			ovary(1)|liver(1)	2						CTTGCTGGAAGCACAGAAGCA	0.433												
ZBED2	79413	broad.mit.edu	37	3	111312782	111312782	+	Silent	SNP	A	A	C			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr3:111312782A>C	uc003dxy.2	-	2	1152	c.267T>G	c.(265-267)CCT>CCG	p.P89P	CD96_uc003dxv.2_Intron|CD96_uc003dxw.2_Intron|CD96_uc003dxx.2_Intron|CD96_uc010hpy.1_Intron	NM_024508	NP_078784	Q9BTP6	ZBED2_HUMAN	zinc finger, BED domain containing 2	89	BED-type.						DNA binding|metal ion binding			skin(1)	1						CGTTGACCCCAGGGCCACGGC	0.617												
SLC9A10	285335	broad.mit.edu	37	3	111921157	111921157	+	Silent	SNP	T	T	C			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr3:111921157T>C	uc003dyu.2	-	18	2484	c.2262A>G	c.(2260-2262)CAA>CAG	p.Q754Q	SLC9A10_uc011bhu.1_Silent_p.Q17Q|SLC9A10_uc010hqc.2_Silent_p.Q706Q	NM_183061	NP_898884	Q4G0N8	S9A10_HUMAN	sperm-specific sodium proton exchanger	754					cell differentiation|multicellular organismal development|sodium ion transport|spermatogenesis	cilium|flagellar membrane|integral to membrane	solute:hydrogen antiporter activity			ovary(3)|breast(2)	5						CTGCTTCGCCTTGGACATAGC	0.348												
KIAA2018	205717	broad.mit.edu	37	3	113376559	113376559	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr3:113376559G>A	uc003eam.2	-	7	4381	c.3970C>T	c.(3970-3972)CGT>TGT	p.R1324C	KIAA2018_uc003eal.2_Missense_Mutation_p.R1268C	NM_001009899	NP_001009899	Q68DE3	K2018_HUMAN	hypothetical protein LOC205717	1324					regulation of transcription, DNA-dependent	membrane|nucleus	calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			skin(2)|ovary(1)	3						GAATCCTTACGGCTTTCATGG	0.438												
QTRTD1	79691	broad.mit.edu	37	3	113795686	113795686	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr3:113795686G>T	uc003eay.2	+	7	873	c.643G>T	c.(643-645)GGT>TGT	p.G215C	QTRTD1_uc003eaz.2_Missense_Mutation_p.G227C|QTRTD1_uc011biq.1_Missense_Mutation_p.G92C|QTRTD1_uc011bir.1_Missense_Mutation_p.G109C|QTRTD1_uc003eba.2_Missense_Mutation_p.G92C	NM_024638	NP_078914	Q9H974	QTRD1_HUMAN	queuine tRNA-ribosyltransferase domain	215					queuosine biosynthetic process	mitochondrion	metal ion binding|queuine tRNA-ribosyltransferase activity			central_nervous_system(1)|skin(1)	2						GCGGCCTGTGGGTGGCTTCCT	0.532												
POLQ	10721	broad.mit.edu	37	3	121248525	121248525	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr3:121248525G>A	uc003eee.3	-	7	1204	c.1075C>T	c.(1075-1077)CGA>TGA	p.R359*		NM_199420	NP_955452	O75417	DPOLQ_HUMAN	DNA polymerase theta	359	Helicase C-terminal.				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)		TAAAACTCTCGAGCAATGATA	0.358								DNA_polymerases_(catalytic_subunits)				
DTX3L	151636	broad.mit.edu	37	3	122288531	122288531	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr3:122288531G>A	uc003efk.2	+	3	1684	c.1595G>A	c.(1594-1596)AGC>AAC	p.S532N	DTX3L_uc010hrj.2_Intron	NM_138287	NP_612144	Q8TDB6	DTX3L_HUMAN	deltex 3-like	532					histone monoubiquitination|response to DNA damage stimulus	cytoplasm|nucleus	histone binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(2)|lung(1)|breast(1)	4				GBM - Glioblastoma multiforme(114;0.0459)		GACATTGATAGCGATGATTCC	0.468												
DTX3L	151636	broad.mit.edu	37	3	122289427	122289427	+	Silent	SNP	T	T	C			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr3:122289427T>C	uc003efk.2	+	4	2150	c.2061T>C	c.(2059-2061)TTT>TTC	p.F687F	DTX3L_uc010hrj.2_Silent_p.F175F	NM_138287	NP_612144	Q8TDB6	DTX3L_HUMAN	deltex 3-like	687					histone monoubiquitination|response to DNA damage stimulus	cytoplasm|nucleus	histone binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(2)|lung(1)|breast(1)	4				GBM - Glioblastoma multiforme(114;0.0459)		AGCTGATTTTTACAGTGGGGT	0.433												
KALRN	8997	broad.mit.edu	37	3	124215203	124215203	+	Silent	SNP	A	A	G			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr3:124215203A>G	uc003ehg.2	+	33	4999	c.4872A>G	c.(4870-4872)CAA>CAG	p.Q1624Q	KALRN_uc010hrv.1_Silent_p.Q1615Q|KALRN_uc003ehf.1_Silent_p.Q1624Q|KALRN_uc011bjy.1_Silent_p.Q1615Q	NM_001024660	NP_001019831	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase isoform 1	1624					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			large_intestine(2)|ovary(2)|central_nervous_system(1)|skin(1)	6						GGAGCAGCCAACCAGACACCA	0.537												
HEG1	57493	broad.mit.edu	37	3	124731892	124731892	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr3:124731892G>A	uc003ehs.3	-	6	2599	c.2531C>T	c.(2530-2532)ACT>ATT	p.T844I	HEG1_uc011bke.1_Missense_Mutation_p.T944I	NM_020733	NP_065784	Q9ULI3	HEG1_HUMAN	HEG homolog 1 precursor	844	Extracellular (Potential).					extracellular region|integral to membrane	calcium ion binding			ovary(2)	2						CAGAATGGTAGTTGTGAAAGT	0.502												
ZNF148	7707	broad.mit.edu	37	3	124953119	124953119	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr3:124953119T>G	uc003ehx.3	-	8	1208	c.722A>C	c.(721-723)CAT>CCT	p.H241P	SLC12A8_uc003ehw.3_Intron|ZNF148_uc003ehz.3_Missense_Mutation_p.H241P|ZNF148_uc010hsa.2_Missense_Mutation_p.H241P|ZNF148_uc003eia.3_Missense_Mutation_p.H241P|ZNF148_uc003ehy.2_Intron	NM_021964	NP_068799	Q9UQR1	ZN148_HUMAN	zinc finger protein 148	241	C2H2-type 3.				cellular defense response|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	Golgi apparatus|nucleus	protein binding|sequence-specific DNA binding|zinc ion binding			skin(2)|ovary(1)|pancreas(1)	4						CCTTTCCATATGATATTTTTG	0.313												
ZXDC	79364	broad.mit.edu	37	3	126180390	126180390	+	Silent	SNP	G	G	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr3:126180390G>A	uc003eiv.2	-	6	2169	c.2115C>T	c.(2113-2115)GGC>GGT	p.G705G	ZXDC_uc010hsh.2_RNA|ZXDC_uc003eix.2_Silent_p.G705G	NM_025112	NP_079388	Q2QGD7	ZXDC_HUMAN	ZXD family zinc finger C isoform 1	705					positive regulation of transcription, DNA-dependent	nucleus	C2H2 zinc finger domain binding|identical protein binding|LRR domain binding|nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1				GBM - Glioblastoma multiforme(114;0.155)		AATAGAAGTTGCCAGTGCCTG	0.522												
UROC1	131669	broad.mit.edu	37	3	126219539	126219539	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr3:126219539T>A	uc003eiz.1	-	11	1176	c.1144A>T	c.(1144-1146)AGC>TGC	p.S382C	UROC1_uc010hsi.1_Missense_Mutation_p.S442C	NM_144639	NP_653240	Q96N76	HUTU_HUMAN	urocanase domain containing 1 isoform 1	382					histidine catabolic process	cytosol	urocanate hydratase activity			ovary(1)	1				GBM - Glioblastoma multiforme(114;0.17)		AAGTAGCACCTTTCCTGGACC	0.522												
UROC1	131669	broad.mit.edu	37	3	126226620	126226620	+	Silent	SNP	C	C	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr3:126226620C>T	uc003eiz.1	-	6	599	c.567G>A	c.(565-567)ACG>ACA	p.T189T	UROC1_uc010hsi.1_Silent_p.T189T	NM_144639	NP_653240	Q96N76	HUTU_HUMAN	urocanase domain containing 1 isoform 1	189					histidine catabolic process	cytosol	urocanate hydratase activity			ovary(1)	1				GBM - Glioblastoma multiforme(114;0.17)		TCTCATACTCCGTCCGGGAGG	0.532												
RUVBL1	8607	broad.mit.edu	37	3	127806584	127806584	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr3:127806584G>A	uc003ekh.2	-	9	1188	c.1084C>T	c.(1084-1086)CGG>TGG	p.R362W	RUVBL1_uc003eke.2_Intron|RUVBL1_uc003ekf.2_Missense_Mutation_p.R302W|RUVBL1_uc010hss.2_Missense_Mutation_p.R362W	NM_003707	NP_003698	Q9Y265	RUVB1_HUMAN	RuvB-like 1	362					cell division|CenH3-containing nucleosome assembly at centromere|DNA recombination|DNA repair|histone H2A acetylation|histone H4 acetylation|mitosis|regulation of growth|regulation of transcription from RNA polymerase II promoter|spermatogenesis|transcription, DNA-dependent	Golgi apparatus|Ino80 complex|membrane|microtubule organizing center|MLL1 complex|NuA4 histone acetyltransferase complex|nuclear matrix	ATP binding|DNA helicase activity|protein binding			skin(1)	1				GBM - Glioblastoma multiforme(114;0.181)		AGCATGGTCCGGATTATCATC	0.488												
CCDC48	79825	broad.mit.edu	37	3	128757721	128757721	+	Silent	SNP	C	C	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr3:128757721C>T	uc011bkt.1	+	7	1638	c.1638C>T	c.(1636-1638)GAC>GAT	p.D546D		NM_024768	NP_079044	Q9HA90	CCD48_HUMAN	coiled-coil domain containing 48	546											0						GCACGCTGGACGCTTTCAGGG	0.537												
IFT122	55764	broad.mit.edu	37	3	129233274	129233274	+	Silent	SNP	T	T	C			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr3:129233274T>C	uc003emm.2	+	25	3236	c.3030T>C	c.(3028-3030)GGT>GGC	p.G1010G	IFT122_uc003eml.2_Silent_p.G1061G|IFT122_uc003emn.2_Silent_p.G951G|IFT122_uc003emo.2_Silent_p.G900G|IFT122_uc003emp.2_Silent_p.G860G|IFT122_uc010htc.2_Silent_p.G1003G|IFT122_uc011bky.1_Silent_p.G801G|IFT122_uc003emq.2_Silent_p.G850G|IFT122_uc003emr.2_Silent_p.G763G|IFT122_uc011bla.1_Silent_p.G784G|IFT122_uc010hte.2_Silent_p.G336G|IFT122_uc003ems.2_Silent_p.G392G	NM_052989	NP_443715	Q9HBG6	IF122_HUMAN	WD repeat domain 10 isoform 2	1010					camera-type eye morphogenesis|cilium morphogenesis|embryonic body morphogenesis|embryonic heart tube development|limb development|neural tube closure	microtubule basal body|photoreceptor connecting cilium				ovary(1)|skin(1)	2						AGGCCCTCGGTGCCTACAGGC	0.602												
PLXND1	23129	broad.mit.edu	37	3	129281738	129281738	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr3:129281738G>A	uc003emx.2	-	27	4817	c.4717C>T	c.(4717-4719)CGG>TGG	p.R1573W	PLXND1_uc011blb.1_Missense_Mutation_p.R241W	NM_015103	NP_055918	Q9Y4D7	PLXD1_HUMAN	plexin D1 precursor	1573	Cytoplasmic (Potential).				axon guidance	integral to membrane|intracellular|plasma membrane				large_intestine(1)	1						TCCATGGCCCGCACGCTCAGC	0.597												
PLXND1	23129	broad.mit.edu	37	3	129292568	129292568	+	Silent	SNP	C	C	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr3:129292568C>T	uc003emx.2	-	13	2806	c.2706G>A	c.(2704-2706)CCG>CCA	p.P902P		NM_015103	NP_055918	Q9Y4D7	PLXD1_HUMAN	plexin D1 precursor	902	IPT/TIG 1.|Extracellular (Potential).				axon guidance	integral to membrane|intracellular|plasma membrane				large_intestine(1)	1						CACCGTCCAACGGGCCACTCA	0.667												
COL6A6	131873	broad.mit.edu	37	3	130292809	130292809	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr3:130292809T>A	uc010htl.2	+	7	3018	c.2987T>A	c.(2986-2988)ATT>AAT	p.I996N		NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN	collagen type VI alpha 6 precursor	996	Nonhelical region.				axon guidance|cell adhesion	collagen				ovary(6)|central_nervous_system(1)|pancreas(1)	8						GATTGTGAAATTGACAAAGTA	0.343												
COL6A6	131873	broad.mit.edu	37	3	130307997	130307997	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr3:130307997A>G	uc010htl.2	+	11	4220	c.4189A>G	c.(4189-4191)ATG>GTG	p.M1397V	COL6A6_uc003eni.3_5'UTR	NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN	collagen type VI alpha 6 precursor	1397	Triple-helical region.				axon guidance|cell adhesion	collagen				ovary(6)|central_nervous_system(1)|pancreas(1)	8						AGATGGCACAATGGGAGATCC	0.433												
COL6A6	131873	broad.mit.edu	37	3	130345329	130345329	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr3:130345329G>T	uc010htl.2	+	24	4910	c.4879G>T	c.(4879-4881)GGA>TGA	p.G1627*	COL6A6_uc003eni.3_Translation_Start_Site	NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN	collagen type VI alpha 6 precursor	1627	Triple-helical region.				axon guidance|cell adhesion	collagen				ovary(6)|central_nervous_system(1)|pancreas(1)	8						TGTTTAACAGGGAGAACCTGG	0.438												
EPHB1	2047	broad.mit.edu	37	3	134851736	134851736	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr3:134851736C>T	uc003eqt.2	+	5	1362	c.1142C>T	c.(1141-1143)CCC>CTC	p.P381L	EPHB1_uc010htz.1_RNA|EPHB1_uc011bly.1_3'UTR|EPHB1_uc003equ.2_5'UTR	NM_004441	NP_004432	P54762	EPHB1_HUMAN	ephrin receptor EphB1 precursor	381	Extracellular (Potential).|Fibronectin type-III 1.					integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding			lung(11)|ovary(6)|stomach(4)|breast(3)|central_nervous_system(2)|skin(2)|large_intestine(1)|pancreas(1)	30						GAGTTTGTGCCCAGGCAGCTG	0.612												
PIK3CB	5291	broad.mit.edu	37	3	138417775	138417775	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr3:138417775A>G	uc011bmq.1	-	11	1744	c.1744T>C	c.(1744-1746)TGG>CGG	p.W582R	PIK3CB_uc011bmn.1_Missense_Mutation_p.W94R|PIK3CB_uc011bmo.1_Missense_Mutation_p.W28R|PIK3CB_uc011bmp.1_Missense_Mutation_p.W169R	NM_006219	NP_006210	P42338	PK3CB_HUMAN	catalytic phosphatidylinositol 3-kinase beta	582	PI3K helical.				activation of MAPK activity|chemotaxis|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell receptor signaling pathway	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity			breast(2)|ovary(1)|lung(1)|skin(1)	5						AGTTTATTCCACTTGATTGAC	0.373												
RNF7	9616	broad.mit.edu	37	3	141457324	141457324	+	Silent	SNP	C	C	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr3:141457324C>T	uc003eud.2	+	1	274	c.141C>T	c.(139-141)TGC>TGT	p.C47C	RNF7_uc003euc.2_Silent_p.C47C|RNF7_uc003eue.2_RNA	NM_014245	NP_055060	Q9UBF6	RBX2_HUMAN	ring finger protein 7 isoform 1	47					anti-apoptosis|induction of apoptosis by oxidative stress|protein neddylation|response to redox state	cytoplasm|nucleus	copper ion binding|NEDD8 ligase activity|protein binding|zinc ion binding				0						ACGTGGAGTGCGATACGTGCG	0.662											OREG0015854	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
CP	1356	broad.mit.edu	37	3	148897376	148897376	+	Silent	SNP	T	T	C			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr3:148897376T>C	uc003ewy.3	-	15	2881	c.2628A>G	c.(2626-2628)CCA>CCG	p.P876P	CP_uc011bnr.1_RNA|CP_uc003eww.3_Silent_p.P28P|CP_uc003ewx.3_Silent_p.P657P|CP_uc003ewz.2_Silent_p.P876P	NM_000096	NP_000087	P00450	CERU_HUMAN	ceruloplasmin precursor	876	Plastocyanin-like 5.|F5/8 type A 3.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	extracellular space	chaperone binding|ferroxidase activity			ovary(1)	1		Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152)	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		Drotrecogin alfa(DB00055)	AATAAGCCCATGGAATACAAG	0.368												
FAM194A	131831	broad.mit.edu	37	3	150387183	150387183	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr3:150387183T>C	uc003eyg.2	-	12	1456	c.1399A>G	c.(1399-1401)ACT>GCT	p.T467A	FAM194A_uc003eyh.2_Missense_Mutation_p.T321A	NM_152394	NP_689607	Q7L0X2	F194A_HUMAN	hypothetical protein LOC131831	467										skin(2)|ovary(1)	3						ACTATACAAGTAAAACCATTT	0.433												
DHX36	170506	broad.mit.edu	37	3	154011567	154011567	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr3:154011567A>T	uc003ezy.3	-	14	1721	c.1640T>A	c.(1639-1641)ATA>AAA	p.I547K	DHX36_uc010hvq.2_Missense_Mutation_p.I533K|DHX36_uc003ezz.3_Missense_Mutation_p.I547K	NM_020865	NP_065916	Q9H2U1	DHX36_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 36	547	Helicase C-terminal.					cytoplasm|nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			skin(1)	1			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			AGCAATTACTATTTTCCGAAC	0.284												
MLF1	4291	broad.mit.edu	37	3	158310241	158310241	+	Silent	SNP	C	C	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr3:158310241C>T	uc003fcb.2	+	2	203	c.66C>T	c.(64-66)CAC>CAT	p.H22H	MLF1_uc003fbz.2_5'UTR|MLF1_uc003fca.2_5'UTR|MLF1_uc003fbx.2_5'UTR|MLF1_uc003fcc.2_Silent_p.H38H|MLF1_uc003fby.2_5'UTR|MLF1_uc010hvx.2_5'UTR	NM_022443	NP_071888	P58340	MLF1_HUMAN	myeloid leukemia factor 1 isoform 1	22					cell cycle arrest|myeloid progenitor cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein domain specific binding				0		Melanoma(1037;0.000458)|Prostate(884;0.0235)|all_neural(597;0.0299)	Lung(72;0.00199)|LUSC - Lung squamous cell carcinoma(72;0.00256)			TTCTTGCACACCGAGAAAATA	0.358			T	NPM1	AML							
MLF1	4291	broad.mit.edu	37	3	158310320	158310320	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr3:158310320G>T	uc003fcb.2	+	2	282	c.145G>T	c.(145-147)GGG>TGG	p.G49W	MLF1_uc003fbz.2_Missense_Mutation_p.G24W|MLF1_uc003fca.2_Missense_Mutation_p.G24W|MLF1_uc003fbx.2_Missense_Mutation_p.G24W|MLF1_uc003fcc.2_Missense_Mutation_p.G65W|MLF1_uc003fby.2_Translation_Start_Site|MLF1_uc010hvx.2_Missense_Mutation_p.G24W	NM_022443	NP_071888	P58340	MLF1_HUMAN	myeloid leukemia factor 1 isoform 1	49					cell cycle arrest|myeloid progenitor cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein domain specific binding				0		Melanoma(1037;0.000458)|Prostate(884;0.0235)|all_neural(597;0.0299)	Lung(72;0.00199)|LUSC - Lung squamous cell carcinoma(72;0.00256)			TGATGGTAGAGGGAGAGCTCA	0.403			T	NPM1	AML							
WDR49	151790	broad.mit.edu	37	3	167250683	167250683	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr3:167250683C>A	uc003fev.1	-	8	1287	c.981G>T	c.(979-981)TTG>TTT	p.L327F	WDR49_uc003feu.1_Missense_Mutation_p.L152F|WDR49_uc011bpd.1_Missense_Mutation_p.L391F|WDR49_uc003few.1_Intron	NM_178824	NP_849146	Q8IV35	WDR49_HUMAN	WD repeat domain 49	327										large_intestine(1)|ovary(1)|skin(1)	3						TTGACTTTAGCAACCTCTGGT	0.418												
SLC2A2	6514	broad.mit.edu	37	3	170727811	170727811	+	Silent	SNP	A	A	G			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr3:170727811A>G	uc003fhe.1	-	4	741	c.432T>C	c.(430-432)TTT>TTC	p.F144F	SLC2A2_uc003fhf.1_Intron|SLC2A2_uc011bpu.1_Silent_p.F17F	NM_000340	NP_000331	P11168	GTR2_HUMAN	solute carrier family 2 (facilitated glucose	144	Helical; Name=3; (Potential).				carbohydrate metabolic process|cellular lipid metabolic process|endocrine pancreas development|energy reserve metabolic process|regulation of insulin secretion	integral to plasma membrane|membrane fraction	D-glucose transmembrane transporter activity			ovary(1)|central_nervous_system(1)	2	all_cancers(22;1.41e-19)|all_lung(20;1.59e-15)|Lung NSC(18;7.08e-15)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;1.1e-14)|Lung(28;2.99e-14)			CCAATTTTGAAAACCCCATCA	0.289												
ECT2	1894	broad.mit.edu	37	3	172486914	172486914	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr3:172486914T>C	uc003fii.2	+	12	1454	c.1316T>C	c.(1315-1317)ATA>ACA	p.I439T	ECT2_uc010hwv.1_Missense_Mutation_p.I470T|ECT2_uc003fih.2_Missense_Mutation_p.I438T|ECT2_uc003fij.1_Missense_Mutation_p.I439T|ECT2_uc003fik.1_Missense_Mutation_p.I439T|ECT2_uc003fil.1_Missense_Mutation_p.I470T	NM_018098	NP_060568	Q9H8V3	ECT2_HUMAN	epithelial cell transforming sequence 2 oncogene	439	DH.				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	Rho guanyl-nucleotide exchange factor activity|signal transducer activity			breast(2)|ovary(1)|skin(1)	4	Ovarian(172;0.00197)|Breast(254;0.158)		Lung(28;1.33e-14)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)			TATGTTAATATATTGGCAACA	0.333												
EHHADH	1962	broad.mit.edu	37	3	184910379	184910379	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr3:184910379A>G	uc003fpf.2	-	7	1834	c.1807T>C	c.(1807-1809)TAT>CAT	p.Y603H	EHHADH_uc011brs.1_Missense_Mutation_p.Y507H	NM_001966	NP_001957	Q08426	ECHP_HUMAN	enoyl-Coenzyme A, hydratase/3-hydroxyacyl	603						peroxisome	3-hydroxyacyl-CoA dehydrogenase activity|coenzyme binding|dodecenoyl-CoA delta-isomerase activity|enoyl-CoA hydratase activity			ovary(3)	3	all_cancers(143;4.04e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.98e-32)|OV - Ovarian serous cystadenocarcinoma(80;5.55e-21)		NADH(DB00157)	GTTTTTCTATACCGTGATAGG	0.433												
TRA2B	6434	broad.mit.edu	37	3	185636197	185636197	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr3:185636197C>T	uc003fpv.2	-	8	1088	c.812G>A	c.(811-813)CGT>CAT	p.R271H	TRA2B_uc003fpt.2_RNA|TRA2B_uc003fpu.2_RNA|TRA2B_uc010hym.2_Missense_Mutation_p.R171H|TRA2B_uc003fpw.2_Missense_Mutation_p.R251H	NM_004593	NP_004584	P62995	TRA2B_HUMAN	splicing factor, arginine/serine-rich 10	271	Arg/Ser-rich (RS2 domain).				nuclear mRNA splicing, via spliceosome	nucleus	nucleotide binding|protein binding|RNA binding			ovary(2)	2						GTATCCTCCACGACTATAGTA	0.353												
TP63	8626	broad.mit.edu	37	3	189526151	189526151	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr3:189526151G>A	uc003fry.2	+	4	504	c.415G>A	c.(415-417)GCG>ACG	p.A139T	TP63_uc003frx.2_Missense_Mutation_p.A139T|TP63_uc003frz.2_Missense_Mutation_p.A139T|TP63_uc010hzc.1_Missense_Mutation_p.A139T|TP63_uc003fsa.2_Missense_Mutation_p.A45T|TP63_uc003fsb.2_Missense_Mutation_p.A45T|TP63_uc003fsc.2_Missense_Mutation_p.A45T|TP63_uc003fsd.2_Missense_Mutation_p.A45T|TP63_uc010hzd.1_Intron|TP63_uc003fse.1_Missense_Mutation_p.A20T	NM_003722	NP_003713	Q9H3D4	P63_HUMAN	tumor protein p63 isoform 1	139					anti-apoptosis|cellular response to UV|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray	chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			skin(5)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	12	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		CACAGACCACGCGCAGAACAG	0.617									Hay-Wells_syndrome	HNSCC(45;0.13)		
CLDN16	10686	broad.mit.edu	37	3	190127802	190127802	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr3:190127802T>C	uc003fsi.2	+	5	963	c.895T>C	c.(895-897)TAT>CAT	p.Y299H	CLDN16_uc010hze.2_3'UTR	NM_006580	NP_006571	Q9Y5I7	CLD16_HUMAN	claudin 16	299	Cytoplasmic (Potential).				calcium-independent cell-cell adhesion|cellular metal ion homeostasis|excretion	integral to membrane|tight junction	identical protein binding|magnesium ion transmembrane transporter activity|structural molecule activity			ovary(1)	1	all_cancers(143;3.61e-10)|Ovarian(172;0.0991)		Lung(62;2.23e-05)|LUSC - Lung squamous cell carcinoma(58;3.15e-05)	GBM - Glioblastoma multiforme(93;0.018)		GGCCAAAATGTATGCTGTAGA	0.428												
C3orf34	84984	broad.mit.edu	37	3	196435397	196435397	+	Splice_Site	SNP	A	A	G			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr3:196435397A>G	uc011btw.1	-	2	524	c.142_splice	c.e2+1	p.D48_splice		NM_032898	NP_116287	Q96LK0	CEP19_HUMAN	hypothetical protein LOC84984							centriole|spindle pole					0	all_cancers(143;1.48e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;1.07e-23)|all cancers(36;1.08e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00301)		GACATGAGGTACCTGAAAACT	0.284												
DLG1	1739	broad.mit.edu	37	3	196867105	196867105	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr3:196867105C>A	uc003fxo.3	-	9	908	c.718G>T	c.(718-720)GGA>TGA	p.G240*	DLG1_uc011bub.1_Nonsense_Mutation_p.G124*|DLG1_uc011buc.1_Nonsense_Mutation_p.G124*|DLG1_uc011bud.1_Translation_Start_Site|DLG1_uc003fxn.3_Nonsense_Mutation_p.G240*|DLG1_uc011bue.1_Nonsense_Mutation_p.G207*|DLG1_uc010ial.2_Nonsense_Mutation_p.G240*|DLG1_uc011buf.1_RNA|DLG1_uc003fxp.2_RNA|DLG1_uc010iam.1_Nonsense_Mutation_p.G207*|DLG1_uc010ian.2_Nonsense_Mutation_p.G107*	NM_001098424	NP_001091894	Q12959	DLG1_HUMAN	discs, large homolog 1 isoform 1	240	PDZ 1.				actin filament organization|axon guidance|cell-cell adhesion|cortical actin cytoskeleton organization|endothelial cell proliferation|establishment or maintenance of cell polarity|interspecies interaction between organisms|mitotic cell cycle G1/S transition checkpoint|negative regulation of mitotic cell cycle|protein localization in plasma membrane|synaptic transmission|tight junction assembly	basolateral plasma membrane|cytosol|endoplasmic reticulum membrane|immunological synapse|MPP7-DLG1-LIN7 complex|nucleus|postsynaptic density|postsynaptic membrane|sarcolemma|tight junction	cytoskeletal protein binding|guanylate kinase activity|L27 domain binding|phosphatase binding|phosphoprotein phosphatase activity|potassium channel regulator activity|protein binding|protein C-terminus binding|protein kinase binding			ovary(3)	3	all_cancers(143;6.22e-10)|Ovarian(172;0.0418)|Breast(254;0.0589)	Lung NSC(153;0.133)	Epithelial(36;3.23e-24)|all cancers(36;2.15e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.0148)		TCCGTACCTCCTGCAATGCTG	0.418												
PDE6B	5158	broad.mit.edu	37	4	628573	628573	+	Silent	SNP	A	A	C			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr4:628573A>C	uc003gap.2	+	2	629	c.576A>C	c.(574-576)GCA>GCC	p.A192A	PDE6B_uc003gao.3_Silent_p.A192A	NM_000283	NP_000274	P35913	PDE6B_HUMAN	phosphodiesterase 6B isoform 1	192	GAF 1.				cytosolic calcium ion homeostasis|GMP metabolic process|phototransduction, visible light|platelet activation|visual perception	cytosol|membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding				0						TGATCATGGCAGTGAACAAGC	0.488												
ZFYVE28	57732	broad.mit.edu	37	4	2339147	2339147	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr4:2339147C>T	uc003gex.1	-	5	917	c.598G>A	c.(598-600)GAG>AAG	p.E200K	ZFYVE28_uc011bvk.1_Missense_Mutation_p.E130K|ZFYVE28_uc011bvl.1_Missense_Mutation_p.E200K|ZFYVE28_uc003gey.3_Missense_Mutation_p.E130K|ZFYVE28_uc003gez.2_Missense_Mutation_p.E153K|ZFYVE28_uc003gew.1_Missense_Mutation_p.E86K	NM_020972	NP_066023	Q9HCC9	LST2_HUMAN	zinc finger, FYVE domain containing 28	200					negative regulation of epidermal growth factor receptor activity	cytosol|early endosome membrane	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			skin(2)|ovary(1)	3						TCCACCGTCTCGCAGAAGAGC	0.637												
RGS12	6002	broad.mit.edu	37	4	3430399	3430399	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr4:3430399A>G	uc003ggw.2	+	16	4430	c.3526A>G	c.(3526-3528)AAA>GAA	p.K1176E	RGS12_uc003ggv.2_Missense_Mutation_p.K1176E|RGS12_uc003ggy.1_Intron|RGS12_uc003ggz.2_Missense_Mutation_p.K528E|RGS12_uc011bvs.1_Intron|RGS12_uc003gha.2_Missense_Mutation_p.K518E|RGS12_uc010icv.2_Missense_Mutation_p.K375E	NM_198229	NP_937872	O14924	RGS12_HUMAN	regulator of G-protein signalling 12 isoform 1	1176						condensed nuclear chromosome|cytoplasm|plasma membrane	GTPase activator activity|receptor signaling protein activity			skin(1)	1				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		AAAGATTGGGAAAAAAAAATA	0.328												
EVC	2121	broad.mit.edu	37	4	5720985	5720985	+	Missense_Mutation	SNP	C	C	T	rs147280107		TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr4:5720985C>T	uc003gil.1	+	2	369	c.185C>T	c.(184-186)ACT>ATT	p.T62I	EVC_uc003gim.1_RNA	NM_153717	NP_714928	P57679	EVC_HUMAN	Ellis van Creveld syndrome protein	62					muscle organ development	integral to membrane				ovary(1)|skin(1)	2		Myeloproliferative disorder(84;0.117)				AAAGACGACACTCAAAATCTG	0.517												
GRPEL1	80273	broad.mit.edu	37	4	7064112	7064112	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr4:7064112C>T	uc003gjy.1	-	3	348	c.307G>A	c.(307-309)GGC>AGC	p.G103S	GRPEL1_uc003gjz.1_Missense_Mutation_p.G103S	NM_025196	NP_079472	Q9HAV7	GRPE1_HUMAN	GrpE-like 1, mitochondrial precursor	103					protein folding|protein import into mitochondrial matrix	mitochondrial matrix	adenyl-nucleotide exchange factor activity|chaperone binding|protein homodimerization activity|unfolded protein binding				0						TTGAAAGTACCGTATAATTTT	0.458												
RBPJ	3516	broad.mit.edu	37	4	26431567	26431567	+	Silent	SNP	C	C	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr4:26431567C>T	uc003grx.1	+	10	1211	c.975C>T	c.(973-975)GGC>GGT	p.G325G	RBPJ_uc003gry.1_Silent_p.G310G|RBPJ_uc003grz.1_Silent_p.G325G|RBPJ_uc011bxt.1_Silent_p.G325G|RBPJ_uc003gsa.1_Silent_p.G311G|RBPJ_uc003gsb.1_Silent_p.G312G|RBPJ_uc003gsc.1_Silent_p.G311G	NM_005349	NP_005340	Q06330	SUH_HUMAN	recombining binding protein suppressor of	325					DNA recombination|negative regulation of transcription, DNA-dependent|positive regulation of transcription of Notch receptor target	cytoplasm|nucleolus|nucleoplasm	DNA binding|protein binding|recombinase activity|sequence-specific DNA binding transcription factor activity			ovary(1)|lung(1)|central_nervous_system(1)	3		Breast(46;0.0503)				TAAATGATGGCGCTTCCTGGA	0.403												
ARAP2	116984	broad.mit.edu	37	4	36231150	36231150	+	Translation_Start_Site	SNP	C	C	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr4:36231150C>T	uc003gsq.1	-	2	297	c.-41G>A	c.(-43--39)TCGTG>TCATG		ARAP2_uc003gsr.1_Translation_Start_Site	NM_015230	NP_056045	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH						regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytosol	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding			ovary(1)|pancreas(1)|skin(1)	3						AAAAGTGGCACGATGAGACAC	0.348												
PHOX2B	8929	broad.mit.edu	37	4	41749473	41749473	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr4:41749473C>A	uc003gwf.3	-	2	682	c.322G>T	c.(322-324)GCC>TCC	p.A108S		NM_003924	NP_003915	Q99453	PHX2B_HUMAN	paired-like homeobox 2b	108	Homeobox.				positive regulation of transcription from RNA polymerase II promoter	nuclear chromatin	RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			autonomic_ganglia(7)|lung(2)|ovary(2)|central_nervous_system(1)	12						TTGAGCTGGGCACTGGTGAAA	0.587			Mis|F		neuroblastoma	neuroblastoma	congenital central hypoventilation syndrome		Neuroblastoma_Familial_Clustering_of|Congenital_Central_Hypoventilation_Syndrome			
ATP8A1	10396	broad.mit.edu	37	4	42580304	42580304	+	Silent	SNP	T	T	C			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr4:42580304T>C	uc003gwr.2	-	12	1333	c.1101A>G	c.(1099-1101)AAA>AAG	p.K367K	ATP8A1_uc003gws.2_Silent_p.K367K|ATP8A1_uc011byz.1_Silent_p.K367K	NM_006095	NP_006086	Q9Y2Q0	AT8A1_HUMAN	ATPase, aminophospholipid transporter (APLT),	367	Cytoplasmic (Potential).				ATP biosynthetic process	chromaffin granule membrane|integral to membrane|plasma membrane	aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity			skin(2)|central_nervous_system(1)	3					Phosphatidylserine(DB00144)	CCTGGGTAAATTTCACAACTT	0.328												
FRYL	285527	broad.mit.edu	37	4	48545976	48545976	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr4:48545976G>T	uc003gyh.1	-	44	6045	c.5440C>A	c.(5440-5442)CTG>ATG	p.L1814M	FRYL_uc003gyg.1_Missense_Mutation_p.L510M|FRYL_uc003gyi.1_Missense_Mutation_p.L702M|FRYL_uc003gyj.1_Missense_Mutation_p.L109M	NM_015030	NP_055845	O94915	FRYL_HUMAN	furry-like	1814					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			skin(1)	1						GCTGTTTGCAGAGCAACTTCA	0.418												
SPATA18	132671	broad.mit.edu	37	4	52917801	52917801	+	Translation_Start_Site	SNP	C	C	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr4:52917801C>A	uc003gzl.2	+	1	209	c.-69C>A	c.(-71--67)TCCTG>TCATG		SPATA18_uc010igl.1_RNA|SPATA18_uc011bzq.1_Translation_Start_Site|SPATA18_uc003gzk.1_Translation_Start_Site	NM_145263	NP_660306	Q8TC71	MIEAP_HUMAN	spermatogenesis associated 18 homolog						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)			CCCCACGGTCCTGCGGAGGCC	0.647												
USP46	64854	broad.mit.edu	37	4	53492381	53492381	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr4:53492381T>C	uc003gzn.2	-	4	550	c.365A>G	c.(364-366)CAT>CGT	p.H122R	USP46_uc003gzm.3_Missense_Mutation_p.H115R|USP46_uc011bzr.1_Missense_Mutation_p.H99R|USP46_uc011bzs.1_Missense_Mutation_p.H6R	NM_022832	NP_073743	P62068	UBP46_HUMAN	ubiquitin specific peptidase 46 isoform 1	122					behavior|protein deubiquitination|regulation of synaptic transmission, GABAergic|ubiquitin-dependent protein catabolic process		protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			ovary(1)	1			LUSC - Lung squamous cell carcinoma(32;0.0295)			TAAAAATTCATGAGCATCCTG	0.348												
NMU	10874	broad.mit.edu	37	4	56471505	56471505	+	Silent	SNP	C	C	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr4:56471505C>T	uc003hbc.2	-	7	478	c.372G>A	c.(370-372)GTG>GTA	p.V124V	NMU_uc003hbd.1_Intron|NMU_uc010igv.1_RNA|NMU_uc010igw.1_Silent_p.V39V|NMU_uc010igx.1_Intron	NM_006681	NP_006672	P48645	NMU_HUMAN	neuromedin U precursor	124					neuropeptide signaling pathway	extracellular region					0	Lung NSC(11;0.00256)|all_epithelial(27;0.075)|Glioma(25;0.08)|all_neural(26;0.101)	all_hematologic(202;0.103)	LUSC - Lung squamous cell carcinoma(4;6.72e-08)|Lung(4;6.22e-07)|Epithelial(7;0.00559)	LUSC - Lung squamous cell carcinoma(721;0.0115)		GCAACGGATGCACAACTGACG	0.463												
UBA6	55236	broad.mit.edu	37	4	68492086	68492086	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr4:68492086G>A	uc003hdg.3	-	28	2562	c.2510C>T	c.(2509-2511)GCC>GTC	p.A837V		NM_018227	NP_060697	A0AVT1	UBA6_HUMAN	ubiquitin-activating enzyme E1-like 2	837					protein ubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm	ATP binding|FAT10 activating enzyme activity|ligase activity|protein binding				0						ACTTTTGGTGGCTTCATTAGA	0.333												
SULT1E1	6783	broad.mit.edu	37	4	70723269	70723269	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr4:70723269C>T	uc003heo.2	-	2	207	c.94G>A	c.(94-96)GCG>ACG	p.A32T	SULT1E1_uc010ihv.1_Missense_Mutation_p.A32T	NM_005420	NP_005411	P49888	ST1E1_HUMAN	estrogen sulfotransferase	32					3'-phosphoadenosine 5'-phosphosulfate metabolic process|sulfation|xenobiotic metabolic process	cytosol|nuclear membrane	estrone sulfotransferase activity|flavonol 3-sulfotransferase activity|steroid binding|steroid sulfotransferase activity			ovary(1)	1						GCCTGGAACGCTTCCACATTA	0.348												
MUC7	4589	broad.mit.edu	37	4	71346558	71346558	+	Silent	SNP	A	A	C			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr4:71346558A>C	uc011cat.1	+	4	385	c.97A>C	c.(97-99)AGG>CGG	p.R33R	MUC7_uc011cau.1_Silent_p.R33R|MUC7_uc003hfj.2_Silent_p.R33R|uc011cav.1_RNA	NM_001145006	NP_001138478	Q8TAX7	MUC7_HUMAN	mucin 7, secreted precursor	33						extracellular region	protein binding			ovary(2)|central_nervous_system(1)|skin(1)	4			Lung(101;0.211)			ACGTCACAGAAGGCATCATCA	0.303												
PF4V1	5197	broad.mit.edu	37	4	74719777	74719777	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr4:74719777A>T	uc003hhg.1	+	3	320	c.253A>T	c.(253-255)ATT>TTT	p.I85F		NM_002620	NP_002611	P10720	PF4V_HUMAN	platelet factor 4 variant 1	85					immune response	extracellular region	chemokine activity|heparin binding				0	Breast(15;0.00102)		all cancers(17;0.00176)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187)			TGGGAGGAAAATTTGCTTGGA	0.463												
G3BP2	9908	broad.mit.edu	37	4	76570792	76570792	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr4:76570792C>A	uc003hir.2	-	12	1436	c.1271G>T	c.(1270-1272)CGC>CTC	p.R424L	G3BP2_uc003his.2_Missense_Mutation_p.R424L|G3BP2_uc003hit.2_Missense_Mutation_p.R391L	NM_012297	NP_036429	Q9UN86	G3BP2_HUMAN	Ras-GTPase activating protein SH3 domain-binding	424	Gly-rich.				cytoplasmic sequestering of NF-kappaB|mRNA transport|Ras protein signal transduction|regulation of small GTPase mediated signal transduction	cytosol	GTPase activator activity|nucleotide binding|receptor signaling complex scaffold activity|RNA binding			breast(2)|central_nervous_system(1)	3			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)			AATATCCCTGCGATCATCACC	0.498												
PPEF2	5470	broad.mit.edu	37	4	76797721	76797721	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr4:76797721A>G	uc003hix.2	-	11	1396	c.1039T>C	c.(1039-1041)TTT>CTT	p.F347L	PPEF2_uc003hiy.2_RNA|PPEF2_uc003hiz.1_Missense_Mutation_p.F347L	NM_006239	NP_006230	O14830	PPE2_HUMAN	serine/threonine protein phosphatase with	347	Catalytic.				detection of stimulus involved in sensory perception|negative regulation of MAPKKK cascade|negative regulation of peptidyl-threonine phosphorylation|protein dephosphorylation|visual perception	cytoplasm|photoreceptor inner segment|photoreceptor outer segment	calcium ion binding|Hsp70 protein binding|Hsp90 protein binding|iron ion binding|manganese ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine phosphatase activity			ovary(2)|lung(1)|central_nervous_system(1)	4			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			TCGGGGAGAAACCATGGGATG	0.572												
PDLIM5	10611	broad.mit.edu	37	4	95496980	95496980	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr4:95496980G>A	uc003hti.2	+	5	656	c.505G>A	c.(505-507)GTC>ATC	p.V169I	PDLIM5_uc003htf.2_Intron|PDLIM5_uc003htg.2_Intron|PDLIM5_uc011cdx.1_Intron|PDLIM5_uc003hth.2_Intron|PDLIM5_uc003htj.2_Intron|PDLIM5_uc003htk.2_Intron|PDLIM5_uc011cdy.1_Missense_Mutation_p.V47I	NM_006457	NP_006448	Q96HC4	PDLI5_HUMAN	PDZ and LIM domain 5 isoform a	169					regulation of dendritic spine morphogenesis|regulation of synaptogenesis	actin cytoskeleton|cell junction|cytosol|postsynaptic density|postsynaptic membrane|synaptosome	actin binding|actinin binding|protein kinase C binding|zinc ion binding			ovary(1)|skin(1)	2		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.84e-09)		CGTGGCTGCCGTCACTCCTCC	0.547												
GSTCD	79807	broad.mit.edu	37	4	106746920	106746920	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr4:106746920C>T	uc003hxz.3	+	8	1565	c.1493C>T	c.(1492-1494)GCA>GTA	p.A498V	GSTCD_uc003hxy.3_Missense_Mutation_p.A411V|GSTCD_uc011cfb.1_Missense_Mutation_p.A121V	NM_001031720	NP_001026890	Q8NEC7	GSTCD_HUMAN	glutathione S-transferase, C-terminal domain	498						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)		TTCATTCAAGCAAATATGGAA	0.274												
TBCK	93627	broad.mit.edu	37	4	107170076	107170076	+	Splice_Site	SNP	A	A	G			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr4:107170076A>G	uc010ilv.2	-	8	1085	c.720_splice	c.e8+1	p.K240_splice	TBCK_uc003hyb.2_5'Flank|TBCK_uc003hye.2_Splice_Site_p.K201_splice|TBCK_uc003hyc.2_Splice_Site_p.K177_splice|TBCK_uc003hyd.2_Splice_Site_p.K68_splice|TBCK_uc003hyf.2_Splice_Site_p.K240_splice	NM_001163435	NP_001156907	Q8TEA7	TBCK_HUMAN	TBC domain-containing protein kinase-like							intracellular	Rab GTPase activator activity			large_intestine(2)|upper_aerodigestive_tract(1)|stomach(1)|ovary(1)	5						TTAATGACAAACCTTTATAAT	0.174												
USP53	54532	broad.mit.edu	37	4	120177654	120177654	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr4:120177654G>A	uc003ics.3	+	8	1611	c.545G>A	c.(544-546)CGG>CAG	p.R182Q	USP53_uc003icr.3_Missense_Mutation_p.R182Q|USP53_uc003icu.3_5'UTR	NM_019050	NP_061923	Q70EK8	UBP53_HUMAN	ubiquitin specific protease 53	182					ubiquitin-dependent protein catabolic process		ubiquitin thiolesterase activity			ovary(1)|breast(1)|kidney(1)|skin(1)	4						GAATTTGTGCGGTACATTTCT	0.308												
PDE5A	8654	broad.mit.edu	37	4	120484020	120484020	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr4:120484020A>G	uc003idh.2	-	6	1254	c.1099T>C	c.(1099-1101)TGC>CGC	p.C367R	PDE5A_uc003idf.2_Missense_Mutation_p.C325R|PDE5A_uc003idg.2_Missense_Mutation_p.C315R	NM_001083	NP_001074	O76074	PDE5A_HUMAN	phosphodiesterase 5A isoform 1	367	GAF 2.				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)	AAAATGGTGCATTTCTGCACT	0.318												
KIAA1109	84162	broad.mit.edu	37	4	123227177	123227177	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr4:123227177C>T	uc003ieh.2	+	55	9863	c.9818C>T	c.(9817-9819)GCA>GTA	p.A3273V	KIAA1109_uc003iel.1_Missense_Mutation_p.A1208V	NM_015312	NP_056127	Q2LD37	K1109_HUMAN	fragile site-associated protein	3273					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				ovary(8)|skin(2)|pancreas(1)|central_nervous_system(1)	12						ATTGTTTATGCACAGCCTGTG	0.378												
FAT4	79633	broad.mit.edu	37	4	126373243	126373243	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr4:126373243G>T	uc003ifj.3	+	9	11072	c.11072G>T	c.(11071-11073)AGC>ATC	p.S3691I	FAT4_uc011cgp.1_Missense_Mutation_p.S1989I|FAT4_uc003ifi.1_Missense_Mutation_p.S1169I	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	FAT tumor suppressor homolog 4 precursor	3691	Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						GGAGTTCACAGCACAGTCACG	0.478												
PCDH10	57575	broad.mit.edu	37	4	134071765	134071765	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr4:134071765G>A	uc003iha.2	+	1	1296	c.470G>A	c.(469-471)CGC>CAC	p.R157H	uc003igy.2_5'Flank|PCDH10_uc003igz.2_Missense_Mutation_p.R157H	NM_032961	NP_116586	Q9P2E7	PCD10_HUMAN	protocadherin 10 isoform 1 precursor	157	Extracellular (Potential).|Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)	2				LUSC - Lung squamous cell carcinoma(193;0.227)		AACTCCTTGCGCGACTACGAG	0.622												
MAML3	55534	broad.mit.edu	37	4	140811854	140811854	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr4:140811854T>C	uc003ihz.1	-	2	1488	c.736A>G	c.(736-738)AAT>GAT	p.N246D	MAML3_uc011chd.1_Intron	NM_018717	NP_061187	Q96JK9	MAML3_HUMAN	mastermind-like 3	246					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)					AGCCTACCATTCTTACTTAGA	0.478												
RPS3A	6189	broad.mit.edu	37	4	152024153	152024153	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr4:152024153G>A	uc003ilz.2	+	4	536	c.485G>A	c.(484-486)CGC>CAC	p.R162H	RPS3A_uc011cie.1_Missense_Mutation_p.R162H|SNORD73A_uc003ima.1_5'Flank	NM_001006	NP_000997	P61247	RS3A_HUMAN	ribosomal protein S3a	162					cell differentiation|endocrine pancreas development|induction of apoptosis|translational elongation|translational initiation|translational termination|viral transcription	cytosolic small ribosomal subunit|nucleolus	protein binding|RNA binding|structural constituent of ribosome			ovary(1)	1	all_hematologic(180;0.093)					CAACAGGTCCGCCAAATCCGG	0.428												
PRSS48	345062	broad.mit.edu	37	4	152212409	152212409	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr4:152212409C>T	uc011cif.1	+	5	791	c.791C>T	c.(790-792)GCC>GTC	p.A264V	PRSS48_uc011cig.1_Missense_Mutation_p.A121V	NM_183375	NP_899231	Q7RTY5	PRS48_HUMAN	epidermis-specific serine protease-like protein	264	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			large_intestine(1)	1						TGGATTAATGCCACTATTTCA	0.448												
FAM198B	51313	broad.mit.edu	37	4	159092437	159092437	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr4:159092437G>A	uc003ipp.3	-	2	543	c.91C>T	c.(91-93)CGT>TGT	p.R31C	uc003ipu.1_5'Flank|FAM198B_uc003ipq.3_Missense_Mutation_p.R31C|FAM198B_uc003ipr.3_Missense_Mutation_p.R31C|FAM198B_uc003ips.2_Missense_Mutation_p.R31C|uc003ipt.1_RNA	NM_016613	NP_057697	Q6UWH4	F198B_HUMAN	hypothetical protein LOC51313 isoform 2	31	Cytoplasmic (Potential).					Golgi membrane|integral to membrane					0						GTCCTTGGACGCCGGCTGCTC	0.622												
RAPGEF2	9693	broad.mit.edu	37	4	160274685	160274685	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr4:160274685A>G	uc003iqg.3	+	22	3965	c.3655A>G	c.(3655-3657)ACA>GCA	p.T1219A		NM_014247	NP_055062	Q9Y4G8	RPGF2_HUMAN	Rap guanine nucleotide exchange factor 2	1219					cAMP-mediated signaling|MAPKKK cascade|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	calcium ion binding|diacylglycerol binding|Rap GTPase activator activity|Rap guanyl-nucleotide exchange factor activity|signal transducer activity			lung(2)|upper_aerodigestive_tract(1)|skin(1)	4	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.0817)		TGCTACAGCTACAGTAATTTC	0.463												
ANP32C	23520	broad.mit.edu	37	4	165118603	165118603	+	Silent	SNP	C	C	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr4:165118603C>T	uc011cjk.1	-	1	261	c.261G>A	c.(259-261)ACG>ACA	p.T87T	MARCH1_uc003iqs.1_Intron	NM_012403	NP_036535	O43423	AN32C_HUMAN	acidic nuclear phosphoprotein 32C	87	LRR 3.										0	all_hematologic(180;0.203)	Prostate(90;0.0138)|Melanoma(52;0.18)|all_neural(102;0.223)		KIRC - Kidney renal clear cell carcinoma(143;0.242)		AATATAGATGCGTGAGGTTTG	0.413												
PALLD	23022	broad.mit.edu	37	4	169433418	169433418	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr4:169433418C>T	uc011cjx.1	+	2	974	c.763C>T	c.(763-765)CGC>TGC	p.R255C	PALLD_uc003iru.2_Missense_Mutation_p.R255C	NM_016081	NP_057165	Q8WX93	PALLD_HUMAN	palladin isoform 2	255					cytoskeleton organization	actin filament|focal adhesion|lamellipodium|nucleus|ruffle|sarcomere	actin binding|muscle alpha-actinin binding			ovary(1)	1		Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144)		GBM - Glioblastoma multiforme(119;0.204)		GCCACACAACCGCAAGTCTCA	0.587									Pancreatic_Cancer_Familial_Clustering_of			
AADAT	51166	broad.mit.edu	37	4	171009703	171009703	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr4:171009703C>T	uc003isr.2	-	2	422	c.80G>A	c.(79-81)AGC>AAC	p.S27N	AADAT_uc003iss.2_Missense_Mutation_p.S27N|AADAT_uc003ist.2_Missense_Mutation_p.S31N	NM_016228	NP_057312	Q8N5Z0	AADAT_HUMAN	kynurenine aminotransferase II	27					2-oxoglutarate metabolic process|biosynthetic process|glutamate metabolic process|lysine catabolic process	mitochondrial matrix	2-aminoadipate transaminase activity|kynurenine-oxoglutarate transaminase activity|protein homodimerization activity				0		Prostate(90;0.00601)|Renal(120;0.0183)|all_neural(102;0.122)|Melanoma(52;0.17)		GBM - Glioblastoma multiforme(119;0.0355)|LUSC - Lung squamous cell carcinoma(193;0.118)	L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	TGGTCCTCTGCTCAATATGTC	0.368												
GALNTL6	442117	broad.mit.edu	37	4	173942662	173942662	+	Silent	SNP	C	C	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr4:173942662C>T	uc003isv.2	+	12	2260	c.1524C>T	c.(1522-1524)CCC>CCT	p.P508P		NM_001034845	NP_001030017	Q49A17	GLTL6_HUMAN	N-acetylgalactosaminyltransferase-like 6	508	Ricin B-type lectin.|Lumenal (Potential).					Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	p.?(1)		breast(2)|ovary(1)|skin(1)	4						ATATTCGACCCGGTGAGCCAC	0.488												
STOX2	56977	broad.mit.edu	37	4	184930482	184930482	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr4:184930482T>A	uc003ivz.1	+	3	1926	c.491T>A	c.(490-492)ATA>AAA	p.I164K	STOX2_uc003iwa.1_5'UTR	NM_020225	NP_064610	Q9P2F5	STOX2_HUMAN	storkhead box 2	164					embryo development|maternal placenta development						0		all_lung(41;1.89e-12)|Lung NSC(41;3.48e-12)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|all_hematologic(60;0.027)|Prostate(90;0.0283)		all cancers(43;2.85e-26)|Epithelial(43;2.27e-22)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-10)|Colorectal(24;8.23e-06)|GBM - Glioblastoma multiforme(59;1.64e-05)|STAD - Stomach adenocarcinoma(60;3.6e-05)|COAD - Colon adenocarcinoma(29;4.37e-05)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.227)		GACGAGAGGATACCTGACCGG	0.532												
IRF2	3660	broad.mit.edu	37	4	185339859	185339859	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr4:185339859T>G	uc003iwf.3	-	4	391	c.191A>C	c.(190-192)AAG>ACG	p.K64T		NM_002199	NP_002190	P14316	IRF2_HUMAN	interferon regulatory factor 2	64	IRF tryptophan pentad repeat.				blood coagulation|cell proliferation|interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	focal adhesion|nucleoplasm	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1		all_lung(41;7.86e-14)|Lung NSC(41;1.87e-13)|Colorectal(36;0.00146)|Hepatocellular(41;0.00826)|Renal(120;0.00992)|Prostate(90;0.0115)|all_neural(102;0.0573)|all_hematologic(60;0.0592)		all cancers(43;3.94e-27)|Epithelial(43;5.3e-24)|OV - Ovarian serous cystadenocarcinoma(60;1.06e-10)|Colorectal(24;7.98e-07)|STAD - Stomach adenocarcinoma(60;3.95e-05)|GBM - Glioblastoma multiforme(59;8.3e-05)|COAD - Colon adenocarcinoma(29;0.000106)|BRCA - Breast invasive adenocarcinoma(30;0.000311)|LUSC - Lung squamous cell carcinoma(40;0.0128)|READ - Rectum adenocarcinoma(43;0.0419)		TGGTTGATGCTTTCCTAACAA	0.383												
FAT1	2195	broad.mit.edu	37	4	187540301	187540301	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr4:187540301A>G	uc003izf.2	-	10	7627	c.7439T>C	c.(7438-7440)GTA>GCA	p.V2480A		NM_005245	NP_005236	Q14517	FAT1_HUMAN	FAT tumor suppressor 1 precursor	2480	Extracellular (Potential).|Cadherin 22.				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						AATTACAGTTACATGAACCTG	0.473										HNSCC(5;0.00058)		
AHRR	57491	broad.mit.edu	37	5	434067	434067	+	Silent	SNP	G	G	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr5:434067G>A	uc003jav.2	+	12	1322	c.1278G>A	c.(1276-1278)GCG>GCA	p.A426A	AHRR_uc003jaw.2_Silent_p.A404A|AHRR_uc010isy.2_Silent_p.A254A|AHRR_uc010isz.2_Silent_p.A404A|AHRR_uc003jax.2_Silent_p.A167A|AHRR_uc003jay.2_Silent_p.A264A|AHRR_uc003jaz.2_Silent_p.A25A	NM_020731	NP_065782	A9YTQ3	AHRR_HUMAN	arylhydrocarbon receptor repressor	408					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(2)	2			Epithelial(17;0.0011)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00354)|Lung(60;0.0863)			CCTGGACAGCGGGAAAGCACA	0.692												
CEP72	55722	broad.mit.edu	37	5	637758	637758	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr5:637758C>T	uc003jbf.2	+	7	1103	c.1031C>T	c.(1030-1032)ACG>ATG	p.T344M	CEP72_uc011clz.1_RNA	NM_018140	NP_060610	Q9P209	CEP72_HUMAN	centrosomal protein 72 kDa	344					G2/M transition of mitotic cell cycle|gamma-tubulin complex localization|spindle organization	centrosome|cytosol				ovary(1)	1			Epithelial(17;0.000339)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|Lung(60;0.0863)			AGATTCCAGACGTTTTCGGAC	0.567												
SLC12A7	10723	broad.mit.edu	37	5	1081765	1081765	+	Silent	SNP	T	T	C			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr5:1081765T>C	uc003jbu.2	-	9	1290	c.1224A>G	c.(1222-1224)GCA>GCG	p.A408A		NM_006598	NP_006589	Q9Y666	S12A7_HUMAN	solute carrier family 12 (potassium/chloride	408					potassium ion transport|sodium ion transport	integral to plasma membrane	potassium:chloride symporter activity			skin(2)|large_intestine(1)|ovary(1)	4	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)	CGTAGGGCAGTGCGCTGGCAC	0.637												
CLPTM1L	81037	broad.mit.edu	37	5	1334411	1334411	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr5:1334411G>A	uc003jch.2	-	7	930	c.884C>T	c.(883-885)GCG>GTG	p.A295V	CLPTM1L_uc003jcg.2_Missense_Mutation_p.A162V	NM_030782	NP_110409	Q96KA5	CLP1L_HUMAN	CLPTM1-like	295	Helical; (Potential).				apoptosis	integral to membrane				breast(1)|central_nervous_system(1)	2	Lung NSC(6;5.78e-14)|all_lung(6;4.47e-13)|all_epithelial(6;4.47e-09)		Epithelial(17;0.00931)|OV - Ovarian serous cystadenocarcinoma(19;0.0116)|all cancers(22;0.0181)	KIRC - Kidney renal clear cell carcinoma(5;0.177)|Kidney(13;0.208)		CACATGGAACGCTGCGACAAA	0.567												
ADAMTS16	170690	broad.mit.edu	37	5	5209338	5209338	+	Silent	SNP	C	C	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr5:5209338C>T	uc003jdl.2	+	10	1722	c.1584C>T	c.(1582-1584)CTC>CTT	p.L528L	ADAMTS16_uc003jdk.1_Silent_p.L528L|ADAMTS16_uc003jdj.1_Silent_p.L528L	NM_139056	NP_620687	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1	528	Disintegrin.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(3)|lung(2)|large_intestine(1)|breast(1)|pancreas(1)	8						AAGCCAAGCTCTGCATGCTGG	0.388												
MTRR	4552	broad.mit.edu	37	5	7875484	7875484	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr5:7875484G>A	uc003jed.2	+	4	508	c.478G>A	c.(478-480)GTA>ATA	p.V160I	MTRR_uc010itn.1_RNA|MTRR_uc003jee.3_Missense_Mutation_p.V133I|MTRR_uc003jef.3_RNA|MTRR_uc003jeg.3_RNA|MTRR_uc010ito.2_RNA	NM_024010	NP_076915	Q9UBK8	MTRR_HUMAN	methionine synthase reductase isoform 2	160	Flavodoxin-like.				methionine biosynthetic process	cytosol	[methionine synthase] reductase activity|flavin adenine dinucleotide binding|FMN binding|iron ion binding|NADP binding			ovary(1)	1					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)|L-Methionine(DB00134)	AGATGACTGTGTAGGGTAAGG	0.408												
SEMA5A	9037	broad.mit.edu	37	5	9202323	9202323	+	Missense_Mutation	SNP	C	C	T	rs140433904	by1000genomes	TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr5:9202323C>T	uc003jek.2	-	9	1388	c.676G>A	c.(676-678)GGA>AGA	p.G226R		NM_003966	NP_003957	Q13591	SEM5A_HUMAN	semaphorin 5A precursor	226	Sema.|Extracellular (Potential).				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane				ovary(1)|central_nervous_system(1)	2						GTAAAATTTCCGATGTCATAA	0.423												
CDH18	1016	broad.mit.edu	37	5	19473667	19473667	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr5:19473667C>T	uc003jgc.2	-	12	2418	c.2041G>A	c.(2041-2043)GCT>ACT	p.A681T	CDH18_uc003jgd.2_Missense_Mutation_p.A681T|CDH18_uc011cnm.1_3'UTR	NM_004934	NP_004925	Q13634	CAD18_HUMAN	cadherin 18, type 2 preproprotein	681	Cytoplasmic (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(5)|large_intestine(1)|skin(1)	7	Lung NSC(1;0.00734)|all_lung(1;0.0197)					TCCTCAGCAGCAGAAGGATTC	0.517												
CDH12	1010	broad.mit.edu	37	5	21842333	21842333	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr5:21842333C>T	uc010iuc.2	-	5	1209	c.751G>A	c.(751-753)GGA>AGA	p.G251R	CDH12_uc011cno.1_Missense_Mutation_p.G211R|CDH12_uc003jgk.2_Missense_Mutation_p.G251R	NM_004061	NP_004052	P55289	CAD12_HUMAN	cadherin 12, type 2 preproprotein	251	Extracellular (Potential).|Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)	2						ATTGTTGTTCCGGCTAATCCT	0.428										HNSCC(59;0.17)		
GOLPH3	64083	broad.mit.edu	37	5	32126538	32126538	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr5:32126538A>C	uc003jhp.1	-	4	962	c.677T>G	c.(676-678)GTG>GGG	p.V226G		NM_022130	NP_071413	Q9H4A6	GOLP3_HUMAN	golgi phosphoprotein 3	226					cell proliferation|positive regulation of TOR signaling cascade|regulation of mitochondrion organization	cytosol|endosome|Golgi cisterna membrane|mitochondrial intermembrane space|plasma membrane|trans-Golgi network	protein binding			ovary(1)	1						AGGGTCATTCACCCATTTGTC	0.502												
SUB1	10923	broad.mit.edu	37	5	32599082	32599082	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr5:32599082T>C	uc003jhs.2	+	4	339	c.211T>C	c.(211-213)TAC>CAC	p.Y71H	SUB1_uc003jht.2_RNA	NM_006713	NP_006704	P53999	TCP4_HUMAN	activated RNA polymerase II transcription	71					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleolus|transcription factor complex	protein binding|single-stranded DNA binding|transcription coactivator activity				0						GAAAATGAGGTACGTTAGTGT	0.368												
AMACR	23600	broad.mit.edu	37	5	34004719	34004719	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr5:34004719C>T	uc003jig.2	-	3	594	c.512G>A	c.(511-513)CGC>CAC	p.R171H	AMACR_uc003jih.2_Intron|AMACR_uc003jii.2_Missense_Mutation_p.R171H|AMACR_uc003jij.2_Missense_Mutation_p.R171H|AMACR_uc003jil.1_Missense_Mutation_p.R171H|AMACR_uc003jik.1_Intron	NM_014324	NP_055139	Q9UHK6	AMACR_HUMAN	alpha-methylacyl-CoA racemase isoform 1	171					bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase	mitochondrion|peroxisomal matrix	alpha-methylacyl-CoA racemase activity				0						AGTGCGTGTGCGGTCAAAAAG	0.478												
DNAJC21	134218	broad.mit.edu	37	5	34954762	34954762	+	Silent	SNP	G	G	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr5:34954762G>A	uc003jjc.2	+	12	1766	c.1539G>A	c.(1537-1539)TCG>TCA	p.S513S	DNAJC21_uc003jjb.2_Silent_p.S558S	NM_001012339	NP_001012339	Q5F1R6	DJC21_HUMAN	DnaJ homology subfamily A member 5 isoform 2	513					protein folding	ribosome	heat shock protein binding|nucleic acid binding|unfolded protein binding|zinc ion binding			breast(1)|skin(1)	2	all_lung(31;7.08e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)			CTTCATCATCGTCTTTAAACA	0.393												
EGFLAM	133584	broad.mit.edu	37	5	38370555	38370555	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr5:38370555C>T	uc003jlc.1	+	6	1027	c.703C>T	c.(703-705)CGG>TGG	p.R235W	EGFLAM_uc003jlb.1_Missense_Mutation_p.R235W	NM_152403	NP_689616	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G	235	Fibronectin type-III 2.					cell junction|proteinaceous extracellular matrix|synapse		p.R235W(1)		pancreas(3)|skin(3)|ovary(1)	7	all_lung(31;0.000385)					TGACATCATCCGGACCCTCTG	0.577												
DIMT1L	27292	broad.mit.edu	37	5	61686760	61686760	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr5:61686760G>A	uc003jta.2	-	11	971	c.842C>T	c.(841-843)ACC>ATC	p.T281I		NM_014473	NP_055288	Q9UNQ2	DIMT1_HUMAN	dimethyladenosine transferase	281				Missing (in Ref. 2; AAH02841).		nucleolus	RNA binding|rRNA (adenine-N6,N6-)-dimethyltransferase activity			central_nervous_system(1)	1		Lung NSC(810;8.94e-06)|Prostate(74;0.0235)|Ovarian(174;0.051)|Breast(144;0.077)		Lung(70;0.122)		ACCTGTGCTGGTTAGGATTTG	0.338												
DIMT1L	27292	broad.mit.edu	37	5	61686787	61686787	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr5:61686787A>G	uc003jta.2	-	11	944	c.815T>C	c.(814-816)ATA>ACA	p.I272T		NM_014473	NP_055288	Q9UNQ2	DIMT1_HUMAN	dimethyladenosine transferase	272				IIPEDFSIADK -> VSAAVYPVKQI (in Ref. 2; AAH02841).		nucleolus	RNA binding|rRNA (adenine-N6,N6-)-dimethyltransferase activity			central_nervous_system(1)	1		Lung NSC(810;8.94e-06)|Prostate(74;0.0235)|Ovarian(174;0.051)|Breast(144;0.077)		Lung(70;0.122)		TTTATCTGCTATGCTGAAATC	0.343												
ADAMTS6	11174	broad.mit.edu	37	5	64756033	64756033	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr5:64756033G>A	uc003jtp.2	-	4	1409	c.595C>T	c.(595-597)CGA>TGA	p.R199*	ADAMTS6_uc003jto.2_RNA|ADAMTS6_uc003jtq.2_RNA|ADAMTS6_uc003jtr.1_Translation_Start_Site	NM_197941	NP_922932	Q9UKP5	ATS6_HUMAN	ADAM metallopeptidase with thrombospondin type 1	199					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding				0		Lung NSC(167;2.44e-06)|Prostate(74;0.014)|Ovarian(174;0.0549)|Breast(144;0.111)|Colorectal(97;0.235)		Lung(70;0.00942)		TACAGATGTCGTTGTTGAAGG	0.398												
MAST4	375449	broad.mit.edu	37	5	66430464	66430464	+	Silent	SNP	C	C	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr5:66430464C>T	uc003jut.1	+	17	1841	c.1773C>T	c.(1771-1773)TGC>TGT	p.C591C	MAST4_uc003juu.1_Silent_p.C601C|MAST4_uc011cra.1_Silent_p.C574C|MAST4_uc003juv.2_Silent_p.C586C|MAST4_uc003juw.2_Silent_p.C586C	NM_015183	NP_055998	O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase	783	Protein kinase.					cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			lung(6)|ovary(2)|kidney(2)|breast(2)|central_nervous_system(1)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		TGGTTGGATGCGTGCCATTCT	0.468												
NAIP	4671	broad.mit.edu	37	5	70308328	70308328	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr5:70308328C>T	uc003kar.1	-	4	1133	c.415G>A	c.(415-417)GAC>AAC	p.D139N	NAIP_uc003kat.1_Intron|NAIP_uc011crs.1_Missense_Mutation_p.D139N|NAIP_uc003kas.1_Intron	NM_004536	NP_004527	Q13075	BIRC1_HUMAN	NLR family, apoptosis inhibitory protein isoform	139					anti-apoptosis|apoptosis|nervous system development	basolateral plasma membrane|cytoplasm	caspase inhibitor activity|metal ion binding|nucleoside-triphosphatase activity|nucleotide binding			central_nervous_system(1)	1		Lung NSC(167;4.15e-05)|Prostate(74;0.00996)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;3.04e-60)|Epithelial(20;7.09e-58)|all cancers(19;1.13e-53)|Lung(70;0.0174)		ACCCTTATGTCGTACTTGGCA	0.483												
UTP15	84135	broad.mit.edu	37	5	72868396	72868396	+	Silent	SNP	A	A	G			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr5:72868396A>G	uc003kcw.1	+	7	979	c.756A>G	c.(754-756)ACA>ACG	p.T252T	UTP15_uc011cso.1_Silent_p.T233T|UTP15_uc011csp.1_Silent_p.T62T|UTP15_uc010ize.1_Silent_p.T252T	NM_032175	NP_115551	Q8TED0	UTP15_HUMAN	UTP15, U3 small nucleolar ribonucleoprotein,	252	WD 6.				rRNA processing	cytoplasm|nucleolus					0		Lung NSC(167;0.00405)|Ovarian(174;0.0129)		OV - Ovarian serous cystadenocarcinoma(47;7.76e-55)		AAACCGTGACATGTTTATGTC	0.348												
ENC1	8507	broad.mit.edu	37	5	73931957	73931957	+	Silent	SNP	T	T	C			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr5:73931957T>C	uc003kdc.3	-	2	1485	c.354A>G	c.(352-354)GAA>GAG	p.E118E	ENC1_uc011css.1_Silent_p.E45E	NM_003633	NP_003624	O14682	ENC1_HUMAN	ectodermal-neural cortex (with BTB-like domain)	118				INEENAESLLEAGDMLEFQ -> HQLEGKCRNSLLGSLVTC WSFK (in Ref. 1).	nervous system development	cytoplasm|cytoskeleton|nuclear matrix	actin binding			ovary(1)|pancreas(1)|skin(1)	3		all_lung(232;0.0154)|Lung NSC(167;0.0331)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;1.45e-59)		CCAGGAGCGATTCTGCATTTT	0.512												
SV2C	22987	broad.mit.edu	37	5	75505643	75505643	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr5:75505643C>T	uc003kei.1	+	4	978	c.844C>T	c.(844-846)CTC>TTC	p.L282F		NM_014979	NP_055794	Q496J9	SV2C_HUMAN	synaptic vesicle glycoprotein 2C	282	Helical; (Potential).				neurotransmitter transport	cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			skin(1)	1		all_lung(232;0.007)|Lung NSC(167;0.0148)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;1.16e-50)|all cancers(79;7.25e-40)		CTTGAGCTGGCTCTGCATGTT	0.597												
DMGDH	29958	broad.mit.edu	37	5	78328598	78328598	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr5:78328598T>C	uc003kfs.2	-	9	1435	c.1429A>G	c.(1429-1431)AGG>GGG	p.R477G	DMGDH_uc011cte.1_Missense_Mutation_p.R327G|DMGDH_uc011ctf.1_Missense_Mutation_p.R276G|DMGDH_uc011ctg.1_Missense_Mutation_p.R97G	NM_013391	NP_037523	Q9UI17	M2GD_HUMAN	dimethylglycine dehydrogenase precursor	477					choline metabolic process|glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|dimethylglycine dehydrogenase activity|electron carrier activity			ovary(2)|liver(1)|skin(1)	4		all_lung(232;0.000638)|Lung NSC(167;0.00173)|Ovarian(174;0.0262)|Prostate(461;0.192)		OV - Ovarian serous cystadenocarcinoma(54;6.52e-45)|Epithelial(54;5.96e-40)|all cancers(79;3.56e-35)		GACTCCAGCCTTTGATAGAGC	0.493												
RHOBTB3	22836	broad.mit.edu	37	5	95099279	95099279	+	Silent	SNP	A	A	G			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr5:95099279A>G	uc003klm.2	+	7	1653	c.1116A>G	c.(1114-1116)TCA>TCG	p.S372S		NM_014899	NP_055714	O94955	RHBT3_HUMAN	rho-related BTB domain containing 3	372					retrograde transport, endosome to Golgi	Golgi apparatus	ATP binding|ATPase activity|Rab GTPase binding			lung(1)|skin(1)	2		all_cancers(142;2.58e-06)|all_epithelial(76;4.19e-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;8.79e-16)		GGGATGTTTCAAATGTAATCG	0.333												
RHOBTB3	22836	broad.mit.edu	37	5	95116113	95116113	+	Silent	SNP	A	A	G			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr5:95116113A>G	uc003klm.2	+	9	1977	c.1440A>G	c.(1438-1440)ACA>ACG	p.T480T		NM_014899	NP_055714	O94955	RHBT3_HUMAN	rho-related BTB domain containing 3	480	BTB 2.|Interaction with Rab9.				retrograde transport, endosome to Golgi	Golgi apparatus	ATP binding|ATPase activity|Rab GTPase binding			lung(1)|skin(1)	2		all_cancers(142;2.58e-06)|all_epithelial(76;4.19e-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;8.79e-16)		ACCTGTACACAGACTCCTGCT	0.383												
EFNA5	1946	broad.mit.edu	37	5	106763016	106763016	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr5:106763016G>A	uc003kol.2	-	2	602	c.320C>T	c.(319-321)TCT>TTT	p.S107F	EFNA5_uc010jbr.1_Missense_Mutation_p.S107F	NM_001962	NP_001953	P52803	EFNA5_HUMAN	ephrin-A5 precursor	107					cell-cell signaling	anchored to plasma membrane|caveola|extracellular space	ephrin receptor binding				0		all_cancers(142;5.15e-06)|all_epithelial(76;4.39e-07)|Prostate(80;0.00726)|Lung NSC(167;0.0736)|Ovarian(225;0.0797)|all_lung(232;0.0854)|Colorectal(57;0.241)		Epithelial(69;1.25e-12)|OV - Ovarian serous cystadenocarcinoma(64;1.32e-11)|BRCA - Breast invasive adenocarcinoma(61;0.0376)|COAD - Colon adenocarcinoma(37;0.109)		TCCATTTGGAGAGTGAGGCCG	0.473												
EPB41L4A	64097	broad.mit.edu	37	5	111575375	111575375	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr5:111575375C>T	uc003kpv.1	-	11	1221	c.947G>A	c.(946-948)CGT>CAT	p.R316H		NM_022140	NP_071423	Q9HCS5	E41LA_HUMAN	erythrocyte protein band 4.1-like 4	316						cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding			ovary(1)	1		all_cancers(142;4.93e-06)|all_epithelial(76;2.28e-08)|Prostate(80;0.000244)|Colorectal(10;0.000788)|Ovarian(225;0.0448)|Lung NSC(167;0.126)|all_lung(232;0.135)		OV - Ovarian serous cystadenocarcinoma(64;6.24e-09)|Epithelial(69;1.43e-07)|all cancers(49;2.78e-05)|COAD - Colon adenocarcinoma(37;0.0467)|Colorectal(14;0.0791)		GTGCTTATAACGTATGGATCC	0.338												
EPB41L4A	64097	broad.mit.edu	37	5	111576502	111576502	+	Silent	SNP	G	G	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr5:111576502G>A	uc003kpv.1	-	10	1075	c.801C>T	c.(799-801)AAC>AAT	p.N267N		NM_022140	NP_071423	Q9HCS5	E41LA_HUMAN	erythrocyte protein band 4.1-like 4	267	FERM.					cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding			ovary(1)	1		all_cancers(142;4.93e-06)|all_epithelial(76;2.28e-08)|Prostate(80;0.000244)|Colorectal(10;0.000788)|Ovarian(225;0.0448)|Lung NSC(167;0.126)|all_lung(232;0.135)		OV - Ovarian serous cystadenocarcinoma(64;6.24e-09)|Epithelial(69;1.43e-07)|all cancers(49;2.78e-05)|COAD - Colon adenocarcinoma(37;0.0467)|Colorectal(14;0.0791)		ATGAGGTTTCGTTACACTAAG	0.368												
KCNN2	3781	broad.mit.edu	37	5	113698843	113698843	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr5:113698843G>A	uc003kqo.2	+	1	828	c.371G>A	c.(370-372)CGG>CAG	p.R124Q		NM_021614	NP_067627	Q9H2S1	KCNN2_HUMAN	small conductance calcium-activated potassium	124						integral to membrane	calmodulin binding|small conductance calcium-activated potassium channel activity			ovary(2)	2		all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206)		OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195)		CTGGGCCACCGGCGCGCCCTG	0.443												
TMED7-TICAM2	100302736	broad.mit.edu	37	5	114916761	114916761	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr5:114916761C>T	uc003krd.2	-	4	1199	c.193G>A	c.(193-195)GTG>ATG	p.V65M	TMED7-TICAM2_uc003kre.2_Missense_Mutation_p.V234M|TICAM2_uc003krc.2_Missense_Mutation_p.V65M	NM_021649	NP_067681	Q86XR7	TCAM2_HUMAN	toll-like receptor adaptor molecule 2	65					I-kappaB kinase/NF-kappaB cascade|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	Golgi apparatus|intrinsic to membrane|plasma membrane	protein binding|transmembrane receptor activity				0						ATCTCTTCCACGCTCTGAGCT	0.458												
DMXL1	1657	broad.mit.edu	37	5	118445967	118445967	+	Silent	SNP	T	T	C			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr5:118445967T>C	uc003ksd.2	+	5	667	c.486T>C	c.(484-486)ATT>ATC	p.I162I	DMXL1_uc010jcl.1_Silent_p.I162I|DMXL1_uc003ksc.1_Silent_p.I162I	NM_005509	NP_005500	Q9Y485	DMXL1_HUMAN	Dmx-like 1	162										ovary(2)	2		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		GGAAATGCATTTGGCATTGCA	0.333												
HSD17B4	3295	broad.mit.edu	37	5	118792054	118792054	+	Silent	SNP	T	T	C			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr5:118792054T>C	uc003ksj.2	+	2	226	c.103T>C	c.(103-105)TTA>CTA	p.L35L	HSD17B4_uc011cwg.1_5'UTR|HSD17B4_uc011cwh.1_Intron|HSD17B4_uc011cwi.1_Missense_Mutation_p.V38A|HSD17B4_uc003ksk.3_5'UTR	NM_000414	NP_000405	P51659	DHB4_HUMAN	hydroxysteroid (17-beta) dehydrogenase 4	35	NAD (By similarity).|(3R)-hydroxyacyl-CoA dehydrogenase.				bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	3-hydroxyacyl-CoA dehydrogenase activity|3alpha,7alpha,12alpha-trihydroxy-5beta-cholest-24-enoyl-CoA hydratase activity|estradiol 17-beta-dehydrogenase activity|isomerase activity|long-chain-enoyl-CoA hydratase activity|protein binding|sterol binding|sterol transporter activity			ovary(1)|pancreas(1)	2		all_cancers(142;0.0206)|Prostate(80;0.0322)		OV - Ovarian serous cystadenocarcinoma(64;0.000247)|Epithelial(69;0.000849)|all cancers(49;0.0122)	NADH(DB00157)	AAGAGGAGCGTTAGTTGTTGG	0.338												
LOX	4015	broad.mit.edu	37	5	121409818	121409818	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr5:121409818C>T	uc003ksu.2	-	4	1300	c.925G>A	c.(925-927)GCC>ACC	p.A309T	LOX_uc010jcp.2_Missense_Mutation_p.A12T|LOX_uc010jcq.2_Missense_Mutation_p.A12T|LOX_uc011cwk.1_Missense_Mutation_p.A79T|LOX_uc010jcr.2_Missense_Mutation_p.A12T	NM_002317	NP_002308	P28300	LYOX_HUMAN	lysyl oxidase preproprotein	309	Lysyl-oxidase like.				protein modification process	extracellular space	copper ion binding|protein-lysine 6-oxidase activity			lung(1)	1		all_cancers(142;0.0124)|Prostate(80;0.0322)|Ovarian(225;0.0814)|Breast(839;0.143)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	Epithelial(69;2.14e-11)|OV - Ovarian serous cystadenocarcinoma(64;7.87e-10)|all cancers(49;2.49e-09)|COAD - Colon adenocarcinoma(49;0.02)		TGGGTGTTGGCATCAAGCAGG	0.458												
RAD50	10111	broad.mit.edu	37	5	131972826	131972826	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr5:131972826A>G	uc003kxi.2	+	22	3796	c.3409A>G	c.(3409-3411)AGT>GGT	p.S1137G	RAD50_uc003kxh.2_Missense_Mutation_p.S998G	NM_005732	NP_005723	Q92878	RAD50_HUMAN	RAD50 homolog isoform 1	1137					DNA duplex unwinding|double-strand break repair via homologous recombination|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|telomere maintenance via telomerase	Mre11 complex|nuclear chromosome, telomeric region|nucleoplasm	ATP binding|DNA binding|nuclease activity|protein binding, bridging|zinc ion binding			lung(2)|ovary(1)|skin(1)	4		all_cancers(142;0.0368)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GAAATTTCACAGTATGAAAAT	0.279								Homologous_recombination				
AFF4	27125	broad.mit.edu	37	5	132232456	132232456	+	Silent	SNP	T	T	C			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr5:132232456T>C	uc003kyd.2	-	11	2274	c.1866A>G	c.(1864-1866)CGA>CGG	p.R622R	AFF4_uc011cxk.1_Silent_p.R300R|AFF4_uc003kye.1_Silent_p.R622R	NM_014423	NP_055238	Q9UHB7	AFF4_HUMAN	ALL1 fused gene from 5q31	622					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)			CTGCTGTAGGTCGAGGGGAAG	0.428												
SMAD5	4090	broad.mit.edu	37	5	135510101	135510101	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr5:135510101C>T	uc003lbj.1	+	8	1478	c.1034C>T	c.(1033-1035)GCG>GTG	p.A345V	SMAD5_uc003lbk.1_Missense_Mutation_p.A345V|SMAD5_uc003lbl.1_Missense_Mutation_p.A345V	NM_001001419	NP_001001419	Q99717	SMAD5_HUMAN	SMAD family member 5	345	MH2.				BMP signaling pathway|embryonic pattern specification|positive regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	cytosol|integral to membrane|transcription factor complex	sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity|ubiquitin protein ligase binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GAGGTGTATGCGGAATGCCTC	0.423												
TRPC7	57113	broad.mit.edu	37	5	135692700	135692700	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr5:135692700G>A	uc003lbn.1	-	1	376	c.373C>T	c.(373-375)CTC>TTC	p.L125F	TRPC7_uc010jef.1_Missense_Mutation_p.L117F|TRPC7_uc010jeg.1_RNA|TRPC7_uc010jeh.1_Missense_Mutation_p.L117F|TRPC7_uc010jei.1_Missense_Mutation_p.L117F|TRPC7_uc010jej.1_5'UTR	NM_020389	NP_065122	Q9HCX4	TRPC7_HUMAN	transient receptor potential cation channel,	126	Cytoplasmic (Potential).|ANK 3.				axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GGGTGGTTGAGGATGGCCTCC	0.667												
KDM3B	51780	broad.mit.edu	37	5	137717276	137717276	+	Silent	SNP	C	C	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr5:137717276C>T	uc003lcy.1	+	6	977	c.777C>T	c.(775-777)AGC>AGT	p.S259S	KDM3B_uc010jew.1_5'UTR	NM_016604	NP_057688	Q7LBC6	KDM3B_HUMAN	jumonji domain containing 1B	259					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			ovary(3)|upper_aerodigestive_tract(2)|lung(2)|kidney(2)|central_nervous_system(1)|skin(1)	11						CGCCTCAAAGCGAGGTACAGT	0.428												
TMCO6	55374	broad.mit.edu	37	5	140024251	140024251	+	Silent	SNP	C	C	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr5:140024251C>T	uc003lgl.2	+	11	1395	c.1294C>T	c.(1294-1296)CTA>TTA	p.L432L	TMCO6_uc003lgm.2_Silent_p.L438L|TMCO6_uc010jft.2_Silent_p.L192L|TMCO6_uc003lgn.2_Silent_p.L323L|TMCO6_uc003lgo.2_Silent_p.L192L	NM_018502	NP_060972	Q96DC7	TMCO6_HUMAN	transmembrane and coiled-coil domains 6	432					protein import into nucleus	cytoplasm|nuclear pore	binding|protein transporter activity				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTGCACACACTAGCCTTTTC	0.552												
PCDHA1	56147	broad.mit.edu	37	5	140165915	140165915	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr5:140165915C>A	uc003lhb.2	+	1	40	c.40C>A	c.(40-42)CTG>ATG	p.L14M	PCDHA1_uc003lha.2_Missense_Mutation_p.L14M|PCDHA1_uc003lgz.2_Missense_Mutation_p.L14M	NM_018900	NP_061723	Q9Y5I3	PCDA1_HUMAN	protocadherin alpha 1 isoform 1 precursor	14					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)			AGCCCGGGATCTGCTTCTTTG	0.552												
PCDHA3	56145	broad.mit.edu	37	5	140181913	140181913	+	Silent	SNP	C	C	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr5:140181913C>T	uc003lhf.2	+	1	1131	c.1131C>T	c.(1129-1131)CGC>CGT	p.R377R	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA2_uc011czy.1_Intron|PCDHA3_uc011czz.1_Silent_p.R377R	NM_018906	NP_061729	Q9Y5H8	PCDA3_HUMAN	protocadherin alpha 3 isoform 1 precursor	377	Cadherin 4.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			ovary(6)|skin(2)	8			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGTCCGACCGCGACTCAGGAG	0.488												
PCDHA4	56144	broad.mit.edu	37	5	140188818	140188818	+	Silent	SNP	G	G	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr5:140188818G>A	uc003lhi.2	+	1	2147	c.2046G>A	c.(2044-2046)GCG>GCA	p.A682A	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhh.1_Silent_p.A682A|PCDHA4_uc011daa.1_Silent_p.A682A	NM_018907	NP_061730	Q9UN74	PCDA4_HUMAN	protocadherin alpha 4 isoform 1 precursor	682	Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			ovary(4)|skin(2)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCTCACGGGCGTTGGTGGGCG	0.637												
PCDHA7	56141	broad.mit.edu	37	5	140215781	140215781	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr5:140215781G>A	uc003lhq.2	+	1	1813	c.1813G>A	c.(1813-1815)GCG>ACG	p.A605T	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_uc011dac.1_Missense_Mutation_p.A605T	NM_018910	NP_061733	Q9UN72	PCDA7_HUMAN	protocadherin alpha 7 isoform 1 precursor	605	Cadherin 6.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			ovary(2)|skin(2)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGCTACAACGCGTGGCTTTC	0.637												
PCDHA9	9752	broad.mit.edu	37	5	140229616	140229616	+	Silent	SNP	G	G	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr5:140229616G>A	uc003lhu.2	+	1	2260	c.1536G>A	c.(1534-1536)GCG>GCA	p.A512A	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lht.1_Silent_p.A512A	NM_031857	NP_114063	Q9Y5H5	PCDA9_HUMAN	protocadherin alpha 9 isoform 1 precursor	512	Cadherin 5.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			large_intestine(2)|ovary(2)|skin(1)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGTGCACGCGGAGAGCGGCA	0.701												
PCDHA10	56139	broad.mit.edu	37	5	140236079	140236079	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr5:140236079C>A	uc003lhx.2	+	1	446	c.446C>A	c.(445-447)TCT>TAT	p.S149Y	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_Missense_Mutation_p.S149Y|PCDHA10_uc011dad.1_Missense_Mutation_p.S149Y	NM_018901	NP_061724	Q9Y5I2	PCDAA_HUMAN	protocadherin alpha 10 isoform 1 precursor	149	Extracellular (Potential).|Cadherin 2.				homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding			ovary(2)|skin(2)|breast(1)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGCTTGACTCTCGATTTCCA	0.438												
PCDHA11	56138	broad.mit.edu	37	5	140249397	140249397	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr5:140249397G>A	uc003lia.2	+	1	1567	c.709G>A	c.(709-711)GAC>AAC	p.D237N	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.D237N	NM_018902	NP_061725	Q9Y5I1	PCDAB_HUMAN	protocadherin alpha 11 isoform 1 precursor	237	Extracellular (Potential).|Cadherin 2.				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)			GGATGTCAACGACAATGATCC	0.443												
PCDHA13	56136	broad.mit.edu	37	5	140262322	140262322	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr5:140262322G>A	uc003lif.2	+	1	469	c.469G>A	c.(469-471)GCA>ACA	p.A157T	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc003lic.2_Intron|PCDHA13_uc003lie.1_Missense_Mutation_p.A157T|PCDHA13_uc003lid.2_Missense_Mutation_p.A157T	NM_018904	NP_061727	Q9Y5I0	PCDAD_HUMAN	protocadherin alpha 13 isoform 1 precursor	157	Extracellular (Potential).|Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|skin(2)|central_nervous_system(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACTAGATGGCGCATCCGATGC	0.458												
PCDHB5	26167	broad.mit.edu	37	5	140516378	140516378	+	Silent	SNP	C	C	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr5:140516378C>A	uc003liq.2	+	1	1579	c.1362C>A	c.(1360-1362)TCC>TCA	p.S454S		NM_015669	NP_056484	Q9Y5E4	PCDB5_HUMAN	protocadherin beta 5 precursor	454	Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding			skin(3)|ovary(2)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCCAAACCTCCTACACCCTGT	0.602												
PCDHB11	56125	broad.mit.edu	37	5	140581504	140581504	+	Silent	SNP	G	G	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr5:140581504G>A	uc003liy.2	+	1	2157	c.2157G>A	c.(2155-2157)GCG>GCA	p.A719A	PCDHB11_uc011daj.1_Silent_p.A354A	NM_018931	NP_061754	Q9Y5F2	PCDBB_HUMAN	protocadherin beta 11 precursor	719	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)			GGAGCAGGGCGGCCTCGGTGG	0.652												
PCDHB15	56121	broad.mit.edu	37	5	140626516	140626516	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr5:140626516C>T	uc003lje.2	+	1	1370	c.1370C>T	c.(1369-1371)ACC>ATC	p.T457I		NM_018935	NP_061758	Q9Y5E8	PCDBF_HUMAN	protocadherin beta 15 precursor	457	Extracellular (Potential).|Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			ovary(2)|breast(2)|skin(1)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACCTCCTACACCCTGTTCGTC	0.612												
PCDHGA4	56111	broad.mit.edu	37	5	140735488	140735488	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr5:140735488G>A	uc003ljq.1	+	1	721	c.721G>A	c.(721-723)GTG>ATG	p.V241M	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljp.1_Missense_Mutation_p.V241M	NM_018917	NP_061740	Q9Y5G9	PCDG4_HUMAN	protocadherin gamma subfamily A, 4 isoform 1	241	Extracellular (Potential).|Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TAATGCTCCCGTGTTCACTCA	0.532												
PCDHGA10	56106	broad.mit.edu	37	5	140794641	140794641	+	Silent	SNP	G	G	C			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr5:140794641G>C	uc003lkl.1	+	1	1899	c.1899G>C	c.(1897-1899)GCG>GCC	p.A633A	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_uc011day.1_Silent_p.A633A|PCDHGB7_uc003lkm.2_5'Flank|PCDHGB7_uc003lkn.1_5'Flank	NM_018913	NP_061736	Q9Y5H3	PCDGA_HUMAN	protocadherin gamma subfamily A, 10 isoform 1	633	Cadherin 6.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCGCACGGCGCGAGCCCTGC	0.697												
PCDHGA11	56105	broad.mit.edu	37	5	140801363	140801363	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr5:140801363C>T	uc003lkq.1	+	1	827	c.569C>T	c.(568-570)GCC>GTC	p.A190V	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_uc003lko.1_Missense_Mutation_p.A190V|PCDHGA11_uc003lkp.1_Missense_Mutation_p.A190V	NM_018914	NP_061737	Q9Y5H2	PCDGB_HUMAN	protocadherin gamma subfamily A, 11 isoform 1	190	Extracellular (Potential).|Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACGGATGGGGCCAAGAATCCA	0.552												
PCDHGC3	5098	broad.mit.edu	37	5	140856231	140856231	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr5:140856231G>A	uc003lkv.1	+	1	663	c.548G>A	c.(547-549)CGC>CAC	p.R183H	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkn.1_Intron|PCDHGA11_uc003lkp.1_Intron|PCDHGA11_uc003lkq.1_Intron|PCDHGA12_uc003lkt.1_Intron|PCDHGC3_uc003lku.1_Missense_Mutation_p.R183H|PCDHGC3_uc003lkw.1_Intron	NM_002588	NP_002579	Q9UN70	PCDGK_HUMAN	protocadherin gamma subfamily C, 3 isoform 1	183	Cadherin 2.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(1)|skin(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTTGCGCTTCGCGTGCAGACG	0.612												
DIAPH1	1729	broad.mit.edu	37	5	140896555	140896555	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr5:140896555C>T	uc003llb.3	-	29	3823	c.3682G>A	c.(3682-3684)GCA>ACA	p.A1228T	DIAPH1_uc011dbd.1_Silent_p.V139V|DIAPH1_uc003llc.3_Missense_Mutation_p.A1219T	NM_005219	NP_005210	O60610	DIAP1_HUMAN	diaphanous 1 isoform 1	1228					regulation of microtubule-based process|sensory perception of sound	cytoplasm|cytoskeleton|ruffle membrane	actin binding|receptor binding|Rho GTPase binding			skin(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GATGTGACTGCACACCCGGCC	0.498												
PCDH12	51294	broad.mit.edu	37	5	141336022	141336022	+	Silent	SNP	A	A	G			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr5:141336022A>G	uc003llx.2	-	1	2606	c.1395T>C	c.(1393-1395)TAT>TAC	p.Y465Y		NM_016580	NP_057664	Q9NPG4	PCD12_HUMAN	protocadherin 12 precursor	465	Extracellular (Potential).|Cadherin 5.				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)			TGGAGACTTCATACCTGCTTT	0.473												
GNPDA1	10007	broad.mit.edu	37	5	141384619	141384619	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr5:141384619G>A	uc003lmf.3	-	4	1231	c.472C>T	c.(472-474)CGT>TGT	p.R158C	GNPDA1_uc003lmg.3_Missense_Mutation_p.R158C|GNPDA1_uc010jgh.2_Missense_Mutation_p.R158C|GNPDA1_uc003lmh.3_Missense_Mutation_p.R124C	NM_005471	NP_005462	P46926	GNPI1_HUMAN	glucosamine-6-phosphate deaminase 1	158					generation of precursor metabolites and energy|glucosamine catabolic process|N-acetylglucosamine metabolic process|single fertilization	cytoplasm	glucosamine-6-phosphate deaminase activity|hydrolase activity				0		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTCTTCACACGGGTCCTGGAC	0.607												
ADRB2	154	broad.mit.edu	37	5	148207339	148207339	+	Silent	SNP	C	C	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr5:148207339C>T	uc003lpr.1	+	1	1184	c.945C>T	c.(943-945)GGC>GGT	p.G315G	SH3TC2_uc003lpp.1_Intron	NM_000024	NP_000015	P07550	ADRB2_HUMAN	adrenergic, beta-2-, receptor, surface	315	Agonist and antagonist binding.|Helical; Name=7.				activation of transmembrane receptor protein tyrosine kinase activity|desensitization of G-protein coupled receptor protein signaling pathway by arrestin|endosome to lysosome transport|positive regulation of MAPKKK cascade|receptor-mediated endocytosis	endosome|integral to plasma membrane|lysosome|receptor complex	beta2-adrenergic receptor activity|norepinephrine binding|potassium channel regulator activity|protein homodimerization activity			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Alprenolol(DB00866)|Arformoterol(DB01274)|Bambuterol(DB01408)|Bisoprolol(DB00612)|Bitolterol(DB00901)|Bretylium(DB01158)|Carteolol(DB00521)|Carvedilol(DB01136)|Clenbuterol(DB01407)|Desipramine(DB01151)|Epinephrine(DB00668)|Fenoterol(DB01288)|Formoterol(DB00983)|Isoproterenol(DB01064)|Labetalol(DB00598)|Levobunolol(DB01210)|Metipranolol(DB01214)|Nadolol(DB01203)|Norepinephrine(DB00368)|Orciprenaline(DB00816)|Oxprenolol(DB01580)|Penbutolol(DB01359)|Pindolol(DB00960)|Pirbuterol(DB01291)|Procaterol(DB01366)|Propranolol(DB00571)|Pseudoephedrine(DB00852)|Ritodrine(DB00867)|Salbutamol(DB01001)|Salmeterol(DB00938)|Terbutaline(DB00871)|Timolol(DB00373)	ATTGGATAGGCTATGTCAATT	0.483												
AFAP1L1	134265	broad.mit.edu	37	5	148699169	148699169	+	Missense_Mutation	SNP	C	C	T	rs143811672	byFrequency	TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr5:148699169C>T	uc003lqh.2	+	13	1635	c.1504C>T	c.(1504-1506)CGC>TGC	p.R502C	AFAP1L1_uc010jgy.2_Missense_Mutation_p.R502C|AFAP1L1_uc003lqi.1_Missense_Mutation_p.R117C	NM_152406	NP_689619	Q8TED9	AF1L1_HUMAN	actin filament associated protein 1-like 1	502	PH 2.						protein binding			breast(1)|pancreas(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGACATGGGTCGCTGGCTCGG	0.562												
TIGD6	81789	broad.mit.edu	37	5	149375760	149375760	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr5:149375760C>T	uc003lri.2	-	2	914	c.152G>A	c.(151-153)CGC>CAC	p.R51H	TIGD6_uc003lrj.2_Missense_Mutation_p.R51H	NM_030953	NP_112215	Q17RP2	TIGD6_HUMAN	hypothetical protein LOC81789	51	HTH psq-type.				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			AAATTTGGTGCGATCCTTTAA	0.453												
SYNPO	11346	broad.mit.edu	37	5	150029539	150029539	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr5:150029539C>T	uc003lsn.2	+	3	2808	c.2434C>T	c.(2434-2436)CGC>TGC	p.R812C	SYNPO_uc003lso.3_Missense_Mutation_p.R568C|SYNPO_uc003lsp.2_Missense_Mutation_p.R568C	NM_001109974	NP_001103444	Q8N3V7	SYNPO_HUMAN	synaptopodin isoform B	812	Pro-rich.				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)			ATACCAGCTGCGCCCCTCGCT	0.662												
RBM22	55696	broad.mit.edu	37	5	150075217	150075217	+	Silent	SNP	T	T	C			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr5:150075217T>C	uc003lst.2	-	7	719	c.597A>G	c.(595-597)AAA>AAG	p.K199K		NM_018047	NP_060517	Q9NW64	RBM22_HUMAN	RNA binding motif protein 22	199					protein import into nucleus, translocation	catalytic step 2 spliceosome|cytoplasm	calcium-dependent protein binding|nucleotide binding|RNA binding|zinc ion binding				0		Medulloblastoma(196;0.167)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AATAACGGTCTTTAATATTCT	0.428												
FAT2	2196	broad.mit.edu	37	5	150932868	150932868	+	Silent	SNP	C	C	T	rs150507279		TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr5:150932868C>T	uc003lue.3	-	5	4039	c.4026G>A	c.(4024-4026)CCG>CCA	p.P1342P	GM2A_uc011dcs.1_Intron	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	FAT tumor suppressor 2 precursor	1342	Extracellular (Potential).|Cadherin 11.				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)			GGATGGAGGACGGCCGGGGCC	0.582												
GABRG2	2566	broad.mit.edu	37	5	161576143	161576143	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr5:161576143C>A	uc003lyz.3	+	8	1310	c.952C>A	c.(952-954)CTC>ATC	p.L318I	GABRG2_uc010jjc.2_Missense_Mutation_p.L358I|GABRG2_uc003lyy.3_Missense_Mutation_p.L318I|GABRG2_uc011dej.1_Missense_Mutation_p.L223I	NM_000816	NP_000807	P18507	GBRG2_HUMAN	gamma-aminobutyric acid A receptor, gamma 2	318	Helical; (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)		AATGACCACCCTCAGCACCAT	0.468												
DOCK2	1794	broad.mit.edu	37	5	169477279	169477279	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr5:169477279G>A	uc003maf.2	+	41	4171	c.4091G>A	c.(4090-4092)CGC>CAC	p.R1364H	DOCK2_uc011der.1_RNA|DOCK2_uc010jjm.2_Missense_Mutation_p.R856H	NM_004946	NP_004937	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1364	DHR-2.|Interaction with CRKL.				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding			ovary(5)|pancreas(2)	7	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TTCATCTACCGCGGGAAGGAA	0.502												
HRH2	3274	broad.mit.edu	37	5	175110585	175110585	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr5:175110585T>C	uc003mdd.2	+	1	2122	c.349T>C	c.(349-351)TAC>CAC	p.Y117H	HRH2_uc003mdc.3_Missense_Mutation_p.Y117H	NM_022304	NP_071640	P25021	HRH2_HUMAN	histamine receptor H2 isoform 2	117	Cytoplasmic (Potential).				G-protein signaling, coupled to cyclic nucleotide second messenger|immune response	integral to plasma membrane	histamine receptor activity			ovary(1)	1	all_cancers(89;0.00805)|Renal(175;0.000269)|Lung NSC(126;0.00419)|all_lung(126;0.00711)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)	Colorectal(1;0.0154)|COAD - Colon adenocarcinoma(1;0.149)	Betazole(DB00272)|Cimetidine(DB00501)|Doxepin(DB01142)|Epinastine(DB00751)|Famotidine(DB00927)|Histamine Phosphate(DB00667)|Nizatidine(DB00585)|Ranitidine(DB00863)	CCTCGACCGGTACTGCGCTGT	0.542												
EIF4E1B	253314	broad.mit.edu	37	5	176072487	176072487	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr5:176072487C>T	uc010jkf.1	+	8	1168	c.584C>T	c.(583-585)GCG>GTG	p.A195V	TSPAN17_uc003mes.3_5'Flank|TSPAN17_uc003met.2_5'Flank|TSPAN17_uc003meu.2_5'Flank|TSPAN17_uc003mev.2_5'Flank|TSPAN17_uc003mew.2_5'Flank	NM_001099408	NP_001092878	A6NMX2	I4E1B_HUMAN	eukaryotic translation initiation factor 4E	195					regulation of translation	cytoplasm|mRNA cap binding complex	translation initiation factor activity				0	all_cancers(89;0.00185)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.00498)|all_neural(177;0.0212)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ACGAGGGAGGCGGAAAACCAG	0.627												
HK3	3101	broad.mit.edu	37	5	176308391	176308391	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr5:176308391C>T	uc003mfa.2	-	18	2631	c.2539G>A	c.(2539-2541)GTG>ATG	p.V847M	HK3_uc003mez.2_Missense_Mutation_p.V403M	NM_002115	NP_002106	P52790	HXK3_HUMAN	hexokinase 3	847	Catalytic.				glucose transport|glycolysis|transmembrane transport	cytosol|membrane	ATP binding|glucokinase activity			ovary(3)|large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|breast(1)|skin(1)	7	all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TTCTCCACCACGGCAGCTACA	0.652												
FGFR4	2264	broad.mit.edu	37	5	176520703	176520703	+	Silent	SNP	A	A	G			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr5:176520703A>G	uc003mfl.2	+	11	1613	c.1446A>G	c.(1444-1446)GTA>GTG	p.V482V	FGFR4_uc003mfm.2_Silent_p.V482V|FGFR4_uc011dfu.1_Silent_p.V414V|FGFR4_uc003mfo.2_Silent_p.V442V	NM_002011	NP_002002	P22455	FGFR4_HUMAN	fibroblast growth factor receptor 4 isoform 1	482	Protein kinase.|Cytoplasmic (Potential).				insulin receptor signaling pathway|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity			lung(11)|stomach(1)|central_nervous_system(1)|breast(1)|skin(1)|prostate(1)	16	all_cancers(89;5.93e-05)|Renal(175;0.000269)|Lung NSC(126;0.0088)|all_lung(126;0.0142)	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)		Palifermin(DB00039)	GCCAGGTAGTACGTGCAGAGG	0.562										TSP Lung(9;0.080)		
ZFP2	80108	broad.mit.edu	37	5	178359697	178359697	+	Silent	SNP	G	G	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr5:178359697G>A	uc003mjn.1	+	5	1892	c.1383G>A	c.(1381-1383)ACG>ACA	p.T461T	ZFP2_uc010jky.2_Silent_p.T461T|ZFP2_uc010jkx.1_Silent_p.T461T	NM_030613	NP_085116	Q6ZN57	ZFP2_HUMAN	zinc finger protein 2 homolog	461					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|pancreas(1)|skin(1)	3	all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.00655)|GBM - Glioblastoma multiforme(465;0.0302)|OV - Ovarian serous cystadenocarcinoma(192;0.0615)|Epithelial(171;0.111)		GAACTCATACGTGAGGAATGT	0.388												
MGAT4B	11282	broad.mit.edu	37	5	179227025	179227025	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr5:179227025A>G	uc003mks.2	-	8	1208	c.839T>C	c.(838-840)ATG>ACG	p.M280T	MGAT4B_uc003mkp.2_Missense_Mutation_p.M135T|MGAT4B_uc003mkq.2_Missense_Mutation_p.M135T|MGAT4B_uc003mkr.2_Missense_Mutation_p.M295T|MIR1229_hsa-mir-1229|MI0006319_5'Flank	NM_014275	NP_055090	Q9UQ53	MGT4B_HUMAN	alpha-1,3-mannosyl-glycoprotein	280	Lumenal (Potential).				N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding				0	all_cancers(89;0.000201)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0525)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AAAGTTCTTCATGGTGCTCAG	0.602												
TRIM41	90933	broad.mit.edu	37	5	180651518	180651518	+	Silent	SNP	G	G	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr5:180651518G>A	uc003mne.1	+	1	1213	c.519G>A	c.(517-519)CCG>CCA	p.P173P	uc003mnb.1_3'UTR|TRIM41_uc003mnc.1_Silent_p.P173P|TRIM41_uc003mnd.1_Silent_p.P173P|TRIM41_uc003mnf.1_RNA	NM_033549	NP_291027	Q8WV44	TRI41_HUMAN	tripartite motif-containing 41 isoform 1	173						cytoplasm|nucleus	ligase activity|protein binding|zinc ion binding				0	all_cancers(89;9.17e-06)|all_epithelial(37;1.19e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.000209)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CACTGCCCCCGCCTCCAGCCC	0.418												
GCM2	9247	broad.mit.edu	37	6	10874821	10874821	+	Silent	SNP	G	G	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr6:10874821G>A	uc003mzn.3	-	5	1000	c.928C>T	c.(928-930)CTA>TTA	p.L310L	SYCP2L_uc011dim.1_Intron	NM_004752	NP_004743	O75603	GCM2_HUMAN	glial cells missing homolog 2	310					cellular calcium ion homeostasis|cellular phosphate ion homeostasis|parathyroid gland development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|sequence-specific DNA binding			ovary(2)|central_nervous_system(1)	3	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)				TTACATTGTAGTGTGTTCAGA	0.428												
C6orf105	84830	broad.mit.edu	37	6	11778881	11778881	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr6:11778881C>T	uc003nab.2	-	1	400	c.112G>A	c.(112-114)GCA>ACA	p.A38T	C6orf105_uc011dip.1_Missense_Mutation_p.A38T	NM_032744	NP_116133	Q96IZ2	CF105_HUMAN	hypothetical protein LOC84830 isoform 2	38						integral to membrane					0	Ovarian(93;0.0848)|Breast(50;0.0871)	all_hematologic(90;0.135)	Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.193)			GCACCATTTGCCAAGATTTTG	0.418												
EDN1	1906	broad.mit.edu	37	6	12296244	12296244	+	Silent	SNP	C	C	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr6:12296244C>T	uc003nae.3	+	5	917	c.583C>T	c.(583-585)CTG>TTG	p.L195L	EDN1_uc003nad.2_3'UTR|EDN1_uc003naf.3_Silent_p.L194L	NM_001955	NP_001946	P05305	EDN1_HUMAN	endothelin 1 precursor	195					artery smooth muscle contraction|calcium-mediated signaling|leukocyte activation|negative regulation of blood coagulation|negative regulation of cellular protein metabolic process|negative regulation of nitric-oxide synthase biosynthetic process|negative regulation of transcription from RNA polymerase II promoter|nitric oxide transport|peptide hormone secretion|phosphatidylinositol 3-kinase cascade|positive regulation of cardiac muscle hypertrophy|positive regulation of cell size|positive regulation of endothelial cell migration|positive regulation of heart rate|positive regulation of hormone secretion|positive regulation of JUN kinase activity|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of sarcomere organization|positive regulation of smooth muscle cell proliferation|prostaglandin biosynthetic process|protein kinase C deactivation|regulation of systemic arterial blood pressure by endothelin|regulation of vasoconstriction|vein smooth muscle contraction	cytoplasm|extracellular space	cytokine activity|endothelin A receptor binding|endothelin B receptor binding|hormone activity			skin(1)	1	all_cancers(95;0.241)|Breast(50;0.0266)|Ovarian(93;0.12)	all_hematologic(90;0.117)				TGATCCCAAGCTGAAAGGCAA	0.463												
JARID2	3720	broad.mit.edu	37	6	15501269	15501269	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr6:15501269C>T	uc003nbj.2	+	8	2321	c.2077C>T	c.(2077-2079)CGG>TGG	p.R693W	JARID2_uc011div.1_Missense_Mutation_p.R521W|JARID2_uc011diw.1_Missense_Mutation_p.R655W	NM_004973	NP_004964	Q92833	JARD2_HUMAN	jumonji, AT rich interactive domain 2 protein	693	ARID.				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)				TGCCCAGGACCGGCTGGCCAA	0.587												
JARID2	3720	broad.mit.edu	37	6	15507634	15507634	+	Silent	SNP	C	C	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr6:15507634C>T	uc003nbj.2	+	11	2962	c.2718C>T	c.(2716-2718)CTC>CTT	p.L906L	JARID2_uc011div.1_Silent_p.L734L|JARID2_uc011diw.1_Silent_p.L868L	NM_004973	NP_004964	Q92833	JARD2_HUMAN	jumonji, AT rich interactive domain 2 protein	906	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)				TGCGTCACCTCGGTGCTGTGC	0.582												
JARID2	3720	broad.mit.edu	37	6	15520429	15520429	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr6:15520429C>T	uc003nbj.2	+	18	3932	c.3688C>T	c.(3688-3690)CCC>TCC	p.P1230S	JARID2_uc011div.1_Missense_Mutation_p.P1058S	NM_004973	NP_004964	Q92833	JARD2_HUMAN	jumonji, AT rich interactive domain 2 protein	1230					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)				GGACGTGCCCCCCTCCCGTCT	0.373												
NUP153	9972	broad.mit.edu	37	6	17629339	17629339	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr6:17629339A>C	uc003ncd.1	-	18	3291	c.3091T>G	c.(3091-3093)TCC>GCC	p.S1031A	NUP153_uc011dje.1_Missense_Mutation_p.S1062A|NUP153_uc010jpl.1_Missense_Mutation_p.S989A	NM_005124	NP_005115	P49790	NU153_HUMAN	nucleoporin 153kDa	1031					carbohydrate metabolic process|glucose transport|interspecies interaction between organisms|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleolus|nucleoplasm	DNA binding|protein binding|transporter activity|zinc ion binding			lung(4)|ovary(2)|breast(2)|skin(1)	9	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	all cancers(50;0.0981)|Epithelial(50;0.112)			GCAGGGGTGGAGTTAATAACA	0.448												
BTN2A2	10385	broad.mit.edu	37	6	26384103	26384103	+	Silent	SNP	C	C	G			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr6:26384103C>G	uc003nhq.2	+	2	140	c.54C>G	c.(52-54)CTC>CTG	p.L18L	BTN2A2_uc011dkf.1_Silent_p.L18L|BTN2A2_uc011dkg.1_Silent_p.L18L|BTN2A2_uc003nhr.2_Silent_p.L18L|BTN2A2_uc011dkh.1_Silent_p.L18L|BTN2A2_uc003nhs.2_Silent_p.L18L|BTN2A2_uc003nht.2_Silent_p.L18L	NM_006995	NP_008926	Q8WVV5	BT2A2_HUMAN	butyrophilin, subfamily 2, member A2 isoform a	18					negative regulation of activated T cell proliferation|negative regulation of cellular metabolic process|negative regulation of cytokine secretion	integral to membrane					0						tcctcctcctcctgctcctcc	0.488												
BTN3A3	10384	broad.mit.edu	37	6	26452045	26452045	+	Silent	SNP	T	T	C			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr6:26452045T>C	uc003nhz.2	+	11	1341	c.1161T>C	c.(1159-1161)TGT>TGC	p.C387C	BTN3A3_uc003nia.2_Silent_p.C345C|BTN3A3_uc011dkn.1_Silent_p.C338C	NM_006994	NP_008925	O00478	BT3A3_HUMAN	butyrophilin, subfamily 3, member A3 isoform a	387	B30.2/SPRY.|Cytoplasmic (Potential).					integral to membrane					0						TCCTTGGCTGTGAAAACTTCA	0.502												
HLA-G	3135	broad.mit.edu	37	6	29797196	29797196	+	Silent	SNP	C	C	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr6:29797196C>T	uc003nnw.2	+	5	799	c.621C>T	c.(619-621)GAC>GAT	p.D207D	HLA-G_uc011dmb.1_Silent_p.D179D|HLA-G_uc003raj.3_Silent_p.D212D|HLA-G_uc003nnz.3_Silent_p.N115N|HLA-G_uc010jrn.2_Intron|HLA-G_uc003nny.3_RNA|HLA-G_uc003ran.1_5'Flank	NM_002127	NP_002118	P17693	HLAG_HUMAN	major histocompatibility complex, class I, G	207	Extracellular (Potential).|Alpha-3.				antigen processing and presentation of peptide antigen via MHC class I|cellular defense response|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway	integral to membrane|MHC class I protein complex	MHC class I receptor activity			ovary(3)|central_nervous_system(1)	4						TCCTTTCAGACCCCCCCAAGA	0.537												
TRIM26	7726	broad.mit.edu	37	6	30154088	30154088	+	Silent	SNP	C	C	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr6:30154088C>T	uc003npr.2	-	9	1394	c.1185G>A	c.(1183-1185)GAG>GAA	p.E395E	TRIM26_uc003nps.2_Silent_p.E395E|TRIM26_uc010jry.2_Silent_p.E125E|TRIM26_uc003npt.2_Silent_p.E395E	NM_003449	NP_003440	Q12899	TRI26_HUMAN	tripartite motif-containing 26	395	B30.2/SPRY.|Poly-Glu.						DNA binding|zinc ion binding			ovary(2)|lung(1)	3						cttcctcctcctcctcttctc	0.338												
PPP1R10	5514	broad.mit.edu	37	6	30574361	30574361	+	Missense_Mutation	SNP	C	C	T	rs16897725		TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr6:30574361C>T	uc003nqn.1	-	8	1070	c.518G>A	c.(517-519)CGA>CAA	p.R173Q	PPP1R10_uc010jsc.1_5'UTR	NM_002714	NP_002705	Q96QC0	PP1RA_HUMAN	protein phosphatase 1, regulatory subunit 10	173	Interaction with TOX4 (By similarity).				protein import into nucleus|transcription, DNA-dependent	PTW/PP1 phosphatase complex	DNA binding|protein phosphatase inhibitor activity|RNA binding|zinc ion binding			ovary(2)|lung(1)|kidney(1)	4						TGTCAAAGGTCGCTCAGGAAG	0.473												
DHX16	8449	broad.mit.edu	37	6	30632714	30632714	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr6:30632714G>A	uc003nqz.2	-	7	1393	c.1181C>T	c.(1180-1182)GCC>GTC	p.A394V	DHX16_uc003nqy.2_5'Flank|DHX16_uc011dmo.1_Missense_Mutation_p.A334V	NM_003587	NP_003578	O60231	DHX16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 16	394					mRNA processing|RNA splicing	nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|RNA helicase activity			ovary(2)|kidney(2)	4						GCGGCGGACGGCCTGGATGGA	0.572												
MDC1	9656	broad.mit.edu	37	6	30672220	30672220	+	Silent	SNP	A	A	G			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr6:30672220A>G	uc003nrg.3	-	10	5180	c.4740T>C	c.(4738-4740)CCT>CCC	p.P1580P	MDC1_uc003nrf.3_Intron|MDC1_uc011dmp.1_Silent_p.P1187P	NM_014641	NP_055456	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	1580	Interaction with the PRKDC complex.				cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding			breast(2)|ovary(1)|kidney(1)	4						TGGAGGTGGAAGGCTGAAGCT	0.572								Other_conserved_DNA_damage_response_genes				
SKIV2L	6499	broad.mit.edu	37	6	31931826	31931826	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr6:31931826C>T	uc003nyn.1	+	16	2173	c.1784C>T	c.(1783-1785)TCG>TTG	p.S595L	SKIV2L_uc011dou.1_Missense_Mutation_p.S437L|SKIV2L_uc011dov.1_Missense_Mutation_p.S402L	NM_006929	NP_008860	Q15477	SKIV2_HUMAN	superkiller viralicidic activity 2-like homolog	595	Helicase C-terminal.					nucleus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			ovary(1)|large_intestine(1)|breast(1)|central_nervous_system(1)	4						ACCACCAGTTCGGAGAAGAGC	0.582												
SYNGAP1	8831	broad.mit.edu	37	6	33411085	33411085	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr6:33411085A>G	uc011dri.1	+	15	2951	c.2756A>G	c.(2755-2757)CAG>CGG	p.Q919R	SYNGAP1_uc010juy.2_Missense_Mutation_p.Q890R|SYNGAP1_uc010juz.2_Missense_Mutation_p.Q631R	NM_006772	NP_006763	Q96PV0	SYGP1_HUMAN	synaptic Ras GTPase activating protein 1	919					negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity|SH3 domain binding			ovary(4)	4						GTCCCTGCCCAGCAACTGCGA	0.682												
GRM4	2914	broad.mit.edu	37	6	34008491	34008491	+	Silent	SNP	C	C	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr6:34008491C>T	uc003oir.3	-	6	1373	c.1203G>A	c.(1201-1203)GAG>GAA	p.E401E	GRM4_uc011dsn.1_Silent_p.E354E|GRM4_uc010jvh.2_Silent_p.E401E|GRM4_uc010jvi.2_Silent_p.E93E|GRM4_uc003oio.2_Silent_p.E93E|GRM4_uc003oip.2_RNA|GRM4_uc011dsl.1_Silent_p.E261E|GRM4_uc003oiq.2_Silent_p.E268E|GRM4_uc011dsm.1_Silent_p.E232E	NM_000841	NP_000832	Q14833	GRM4_HUMAN	glutamate receptor, metabotropic 4 precursor	401	Extracellular (Potential).				activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade	cytoplasmic vesicle|integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			lung(3)|upper_aerodigestive_tract(1)|ovary(1)|skin(1)	6					L-Glutamic Acid(DB00142)	TCCCCTCCTGCTCATAAGCTG	0.612												
ANKS1A	23294	broad.mit.edu	37	6	34937854	34937854	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr6:34937854C>A	uc003ojx.3	+	3	488	c.346C>A	c.(346-348)CCT>ACT	p.P116T	ANKS1A_uc011dss.1_Missense_Mutation_p.P116T|ANKS1A_uc011dst.1_5'UTR|ANKS1A_uc010jvp.1_5'UTR|ANKS1A_uc010jvq.1_RNA|ANKS1A_uc010jvr.1_5'Flank	NM_015245	NP_056060	Q92625	ANS1A_HUMAN	ankyrin repeat and sterile alpha motif domain	116	ANK 2.					cytoplasm	protein binding			ovary(3)|upper_aerodigestive_tract(1)	4						AGGCTGCTACCCTCTGCATTT	0.512												
ZNF76	7629	broad.mit.edu	37	6	35260699	35260699	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr6:35260699C>T	uc003oki.1	+	11	1412	c.1207C>T	c.(1207-1209)CGG>TGG	p.R403W	ZNF76_uc003okj.1_Missense_Mutation_p.R403W	NM_003427	NP_003418	P36508	ZNF76_HUMAN	zinc finger protein 76 (expressed in testis)	403					regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						CAAACGACCCCGGATAGCTTA	0.612												
TULP1	7287	broad.mit.edu	37	6	35478786	35478786	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr6:35478786C>A	uc003okv.3	-	5	363	c.351G>T	c.(349-351)GAG>GAT	p.E117D	TULP1_uc003okw.3_Missense_Mutation_p.E64D	NM_003322	NP_003313	O00294	TULP1_HUMAN	tubby like protein 1	117	Poly-Glu.				dendrite development|eye photoreceptor cell development|phagocytosis|photoreceptor cell maintenance|positive regulation of phagocytosis	cell junction|cytoplasm|extracellular region|photoreceptor inner segment|photoreceptor outer segment|synapse	actin filament binding|phosphatidylinositol-4,5-bisphosphate binding			ovary(2)|central_nervous_system(1)	3						cctcctcctcctcTGCAGGTA	0.383												
PI16	221476	broad.mit.edu	37	6	36930862	36930862	+	Silent	SNP	C	C	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr6:36930862C>A	uc003ona.2	+	5	1072	c.744C>A	c.(742-744)GTC>GTA	p.V248V	PI16_uc003omz.1_Intron|PI16_uc003onb.2_Intron|PI16_uc011dts.1_Silent_p.V19V	NM_153370	NP_699201	Q6UXB8	PI16_HUMAN	protease inhibitor 16 precursor	248	Extracellular (Potential).					extracellular region|integral to membrane	peptidase inhibitor activity				0						TAACAGAGGTCTCAGGCTCCC	0.577												
FTSJD2	23070	broad.mit.edu	37	6	37430630	37430630	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr6:37430630G>A	uc003ons.2	+	13	1604	c.1351G>A	c.(1351-1353)GTG>ATG	p.V451M		NM_015050	NP_055865	Q8N1G2	MTR1_HUMAN	FtsJ methyltransferase domain containing 2	451					mRNA capping	cytoplasm|nucleus	mRNA (nucleoside-2'-O-)-methyltransferase activity|nucleic acid binding			ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	5						GGGCCTGAAGGTGGGCATAGA	0.527												
BTBD9	114781	broad.mit.edu	37	6	38560444	38560444	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr6:38560444G>A	uc003ooa.3	-	5	1298	c.722C>T	c.(721-723)CCT>CTT	p.P241L	BTBD9_uc003ony.3_Missense_Mutation_p.P173L|BTBD9_uc010jwv.2_Missense_Mutation_p.P173L|BTBD9_uc010jww.2_RNA|BTBD9_uc010jwx.2_Missense_Mutation_p.P241L	NM_052893	NP_443125	Q96Q07	BTBD9_HUMAN	BTB (POZ) domain containing 9 isoform a	241					cell adhesion						0						CAGTCCTGAAGGCCTCACAAC	0.478												
DNAH8	1769	broad.mit.edu	37	6	38863896	38863896	+	Silent	SNP	T	T	C			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr6:38863896T>C	uc003ooe.1	+	58	8784	c.8184T>C	c.(8182-8184)TGT>TGC	p.C2728C		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						CAGCGTCGTGTATTCTTCCTG	0.398												
LRFN2	57497	broad.mit.edu	37	6	40399588	40399588	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr6:40399588G>A	uc003oph.1	-	2	1730	c.1265C>T	c.(1264-1266)CCG>CTG	p.P422L		NM_020737	NP_065788	Q9ULH4	LRFN2_HUMAN	leucine rich repeat and fibronectin type III	422	Fibronectin type-III.|Extracellular (Potential).					cell junction|integral to membrane|postsynaptic membrane				ovary(2)|skin(1)	3	Ovarian(28;0.0418)|Colorectal(47;0.196)					AGCCCGTTCCGGGGGGCTTTT	0.642												
CNPY3	10695	broad.mit.edu	37	6	42903362	42903362	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr6:42903362A>C	uc003ota.3	+	3	775	c.326A>C	c.(325-327)GAT>GCT	p.D109A	CNPY3_uc003osy.2_RNA|CNPY3_uc003osz.2_Missense_Mutation_p.D109A|CNPY3_uc003otc.3_5'UTR|CNPY3_uc003otb.3_Missense_Mutation_p.D20A	NM_006586	NP_006577	Q9BT09	CNPY3_HUMAN	trinucleotide repeat containing 5 precursor	109	Saposin B-type.				innate immune response	endoplasmic reticulum				ovary(1)	1	Colorectal(47;0.196)		all cancers(41;0.000954)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|OV - Ovarian serous cystadenocarcinoma(102;0.0218)|Kidney(15;0.0388)			AGGCTCCTGGATTATAGCCTG	0.542												
PEX6	5190	broad.mit.edu	37	6	42936059	42936059	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr6:42936059G>A	uc003otf.2	-	7	1750	c.1657C>T	c.(1657-1659)CAC>TAC	p.H553Y	PEX6_uc010jya.2_RNA	NM_000287	NP_000278	Q13608	PEX6_HUMAN	peroxisomal biogenesis factor 6	553					protein import into peroxisome matrix, translocation|protein stabilization	cytosol|peroxisomal membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding			ovary(1)	1			all cancers(41;0.00235)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0562)			AGGAGGAGGTGACGCAGCACA	0.542												
MRPL2	51069	broad.mit.edu	37	6	43023827	43023827	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr6:43023827C>T	uc003ots.1	-	4	635	c.512G>A	c.(511-513)CGA>CAA	p.R171Q	CUL7_uc011dvb.1_5'Flank|CUL7_uc003otq.2_5'Flank|CUL7_uc010jyh.2_5'Flank|KLC4_uc003otr.1_Intron|MRPL2_uc011dvc.1_Missense_Mutation_p.R171Q	NM_015950	NP_057034	Q5T653	RM02_HUMAN	mitochondrial ribosomal protein L2 precursor	171					translation	mitochondrion|ribosome	structural constituent of ribosome				0		Ovarian(999;0.0014)	Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|all cancers(41;0.00708)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)	BRCA - Breast invasive adenocarcinoma(397;0.0026)		ACCTGCCATTCGGCCTATGTG	0.517												
TMEM63B	55362	broad.mit.edu	37	6	44120388	44120388	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr6:44120388C>T	uc003owr.2	+	20	1959	c.1895C>T	c.(1894-1896)ACG>ATG	p.T632M	TMEM63B_uc003ows.2_Missense_Mutation_p.T535M|TMEM63B_uc010jyz.2_RNA	NM_018426	NP_060896	Q5T3F8	TM63B_HUMAN	transmembrane protein 63B	632	Helical; (Potential).					integral to membrane	nucleotide binding|protein binding			pancreas(2)|central_nervous_system(1)	3	all_cancers(18;1.66e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00309)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0215)			TGCGTCTTCACGGTGGTCATG	0.662											OREG0017465	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
TDRD6	221400	broad.mit.edu	37	6	46661387	46661387	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr6:46661387C>T	uc003oyj.2	+	1	5522	c.5522C>T	c.(5521-5523)CCT>CTT	p.P1841L	TDRD6_uc010jze.2_Missense_Mutation_p.P1835L	NM_001010870	NP_001010870	O60522	TDRD6_HUMAN	tudor domain containing 6	1841					cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding			breast(3)|ovary(2)|skin(1)	6			Lung(136;0.192)			CCGCTTTCTCCTGATGATGAA	0.403												
CD2AP	23607	broad.mit.edu	37	6	47471097	47471097	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr6:47471097T>C	uc003oyw.2	+	2	542	c.86T>C	c.(85-87)GTG>GCG	p.V29A		NM_012120	NP_036252	Q9Y5K6	CD2AP_HUMAN	CD2-associated protein	29	Interaction with ANLN and localization to the midbody.|SH3 1; truncated.				cell division|mitosis|protein complex assembly|signal transduction|substrate-dependent cell migration, cell extension	cytoplasm|filamentous actin|nucleolus|plasma membrane|ruffle	SH3 domain binding|structural constituent of cytoskeleton			ovary(1)|skin(1)	2			Lung(136;0.105)|LUSC - Lung squamous cell carcinoma(51;0.138)			ATCAGGAATGTGAAAAAGCTA	0.368												
OPN5	221391	broad.mit.edu	37	6	47759639	47759639	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr6:47759639T>C	uc003ozc.2	+	3	357	c.352T>C	c.(352-354)TGT>CGT	p.C118R	OPN5_uc003ozd.2_5'UTR	NM_181744	NP_859528	Q6U736	OPN5_HUMAN	opsin 5 isoform 1	118	Helical; Name=3; (Potential).				phototransduction|protein-chromophore linkage|visual perception	integral to membrane	G-protein coupled receptor activity|photoreceptor activity			ovary(1)	1						TTTCTTTGGCTGTGGAAGCCT	0.483												
PGK2	5232	broad.mit.edu	37	6	49754751	49754751	+	Silent	SNP	G	G	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr6:49754751G>A	uc003ozu.2	-	1	257	c.150C>T	c.(148-150)TGC>TGT	p.C50C		NM_138733	NP_620061	P07205	PGK2_HUMAN	phosphoglycerate kinase 2	50					glycolysis	cytosol	ATP binding|phosphoglycerate kinase activity			ovary(1)	1	Lung NSC(77;0.0402)					CATTGTCCAGGCAGTACTTGA	0.468												
PKHD1	5314	broad.mit.edu	37	6	51882291	51882291	+	Silent	SNP	A	A	G			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr6:51882291A>G	uc003pah.1	-	34	5793	c.5517T>C	c.(5515-5517)ATT>ATC	p.I1839I	PKHD1_uc003pai.2_Silent_p.I1839I	NM_138694	NP_619639	P08F94	PKHD1_HUMAN	fibrocystin isoform 1	1839	Extracellular (Potential).				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			lung(15)|ovary(15)|large_intestine(5)|central_nervous_system(3)|skin(3)|breast(2)|upper_aerodigestive_tract(1)	44	Lung NSC(77;0.0605)					TTTCCTCGCAAATGTAGAGGT	0.493												
LRRC1	55227	broad.mit.edu	37	6	53706924	53706924	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr6:53706924T>C	uc003pcd.1	+	2	453	c.176T>C	c.(175-177)GTC>GCC	p.V59A		NM_018214	NP_060684	Q9BTT6	LRRC1_HUMAN	leucine rich repeat containing 1	59						cytoplasm|membrane				ovary(1)	1	Lung NSC(77;0.0147)			BRCA - Breast invasive adenocarcinoma(397;0.0745)		TTCCAGCTAGTCAAATTACGA	0.358												
TINAG	27283	broad.mit.edu	37	6	54212213	54212213	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr6:54212213C>T	uc003pcj.2	+	6	943	c.797C>T	c.(796-798)GCC>GTC	p.A266V	TINAG_uc010jzt.2_Intron	NM_014464	NP_055279	Q9UJW2	TINAG_HUMAN	tubulointerstitial nephritis antigen	266					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)			CGATACACGGCCAATCTATCC	0.423												
BAI3	577	broad.mit.edu	37	6	70098693	70098693	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr6:70098693G>T	uc003pev.3	+	32	4927	c.4479G>T	c.(4477-4479)AAG>AAT	p.K1493N	BAI3_uc010kak.2_Missense_Mutation_p.K1493N|BAI3_uc011dxx.1_Missense_Mutation_p.K699N	NM_001704	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	1493	Cytoplasmic (Potential).				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			lung(27)|ovary(8)|skin(6)|pancreas(4)|central_nervous_system(3)|urinary_tract(1)|breast(1)	50		all_lung(197;0.212)				CAGAGGCAAAGGATGCTTTGG	0.443												
LMBRD1	55788	broad.mit.edu	37	6	70423622	70423622	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr6:70423622C>T	uc003pfa.2	-	9	945	c.830G>A	c.(829-831)CGA>CAA	p.R277Q	LMBRD1_uc003pey.2_Missense_Mutation_p.R73Q|LMBRD1_uc003pez.2_Missense_Mutation_p.R204Q|LMBRD1_uc010kal.2_Missense_Mutation_p.R204Q|LMBRD1_uc003pfb.2_RNA	NM_018368	NP_060838	Q9NUN5	LMBD1_HUMAN	liver regeneration p-53 related protein	277	Cytoplasmic (Potential).				interspecies interaction between organisms|transport	integral to membrane|lysosomal membrane	cobalamin binding			ovary(1)	1						CTTAAGTGTTCGTAACCTTTC	0.393												
RIMS1	22999	broad.mit.edu	37	6	72889303	72889303	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr6:72889303G>A	uc003pga.2	+	5	574	c.497G>A	c.(496-498)CGA>CAA	p.R166Q	RIMS1_uc011dyb.1_5'Flank|RIMS1_uc003pgc.2_5'Flank|RIMS1_uc003pgb.3_5'Flank	NM_014989	NP_055804	Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	166	RabBD.|FYVE-type.				calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			ovary(7)|pancreas(2)|breast(1)	10		all_epithelial(107;0.179)|all_hematologic(105;0.212)				AATTTATGTCGAAAGCAACAA	0.363												
KCNQ5	56479	broad.mit.edu	37	6	73902309	73902309	+	Silent	SNP	A	A	G			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr6:73902309A>G	uc003pgk.2	+	13	2078	c.1731A>G	c.(1729-1731)AAA>AAG	p.K577K	KCNQ5_uc011dyh.1_Silent_p.K596K|KCNQ5_uc011dyi.1_Silent_p.K587K|KCNQ5_uc010kat.2_Silent_p.K568K|KCNQ5_uc011dyj.1_Silent_p.K467K|KCNQ5_uc011dyk.1_Silent_p.K327K	NM_019842	NP_062816	Q9NR82	KCNQ5_HUMAN	potassium voltage-gated channel, KQT-like	577					protein complex assembly|synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity			ovary(4)|large_intestine(2)|skin(1)	7		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)		TTCTTGGAAAAGGGCAAATCA	0.433												
KCNQ5	56479	broad.mit.edu	37	6	73904255	73904255	+	Silent	SNP	C	C	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr6:73904255C>T	uc003pgk.2	+	14	2264	c.1917C>T	c.(1915-1917)CTC>CTT	p.L639L	KCNQ5_uc011dyh.1_Silent_p.L658L|KCNQ5_uc011dyi.1_Silent_p.L649L|KCNQ5_uc010kat.2_Silent_p.L630L|KCNQ5_uc011dyj.1_Silent_p.L529L|KCNQ5_uc011dyk.1_Silent_p.L389L	NM_019842	NP_062816	Q9NR82	KCNQ5_HUMAN	potassium voltage-gated channel, KQT-like	639					protein complex assembly|synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity			ovary(4)|large_intestine(2)|skin(1)	7		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)		CCTCAGCCCTCGCTTTGGCTT	0.473												
C6orf150	115004	broad.mit.edu	37	6	74150030	74150030	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr6:74150030C>T	uc003pgx.1	-	3	1155	c.1016G>A	c.(1015-1017)CGC>CAC	p.R339H		NM_138441	NP_612450	Q8N884	M21D1_HUMAN	hypothetical protein LOC115004	339											0						GTTTTGAATGCGCAGGCCTTC	0.428												
SLC35A1	10559	broad.mit.edu	37	6	88187198	88187198	+	Silent	SNP	C	C	A	rs3173204		TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr6:88187198C>A	uc011dzj.1	+	2	214	c.135C>A	c.(133-135)ACC>ACA	p.T45T	SLC35A1_uc003plx.2_RNA|SLC35A1_uc010kbw.2_5'UTR|SLC35A1_uc003plz.2_RNA|SLC35A1_uc011dzi.1_5'UTR|SLC35A1_uc003ply.2_RNA|SLC35A1_uc010kbx.2_Silent_p.T45T|SLC35A1_uc010kby.2_RNA|C6orf165_uc010kbv.1_RNA	NM_006416	NP_006407	P78382	S35A1_HUMAN	solute carrier family 35 (CMP-sialic acid	45	Lumenal (Potential).				carbohydrate metabolic process|protein modification process	Golgi membrane|integral to plasma membrane	CMP-N-acetylneuraminate transmembrane transporter activity|sugar:hydrogen symporter activity				0		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0429)		ACTTTTCAACCACAGCCGTGT	0.358												
MDN1	23195	broad.mit.edu	37	6	90354754	90354754	+	Silent	SNP	A	A	G			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr6:90354754A>G	uc003pnn.1	-	101	16698	c.16582T>C	c.(16582-16584)TTG>CTG	p.L5528L		NM_014611	NP_055426	Q9NU22	MDN1_HUMAN	MDN1, midasin homolog	5528	VWFA.				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)		GGATTGTCCAATACAACAAAG	0.478												
MDN1	23195	broad.mit.edu	37	6	90513053	90513053	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr6:90513053A>G	uc003pnn.1	-	2	439	c.323T>C	c.(322-324)GTC>GCC	p.V108A	MDN1_uc003pnp.1_Missense_Mutation_p.V108A	NM_014611	NP_055426	Q9NU22	MDN1_HUMAN	MDN1, midasin homolog	108					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)		TCACGGGAGGACATCAGGATG	0.463												
C6orf168	84553	broad.mit.edu	37	6	99739692	99739692	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr6:99739692A>T	uc003ppj.3	-	5	1111	c.828T>A	c.(826-828)GAT>GAA	p.D276E	C6orf168_uc003ppi.3_5'UTR	NM_032511	NP_115900	Q5TGI0	CF168_HUMAN	hypothetical protein LOC84553	276										ovary(2)|central_nervous_system(1)	3		all_cancers(76;1.63e-06)|Acute lymphoblastic leukemia(125;5.12e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.00898)|Colorectal(196;0.0699)|Lung NSC(302;0.198)		BRCA - Breast invasive adenocarcinoma(108;0.073)		TGTACTTCTTATCACCTGCAG	0.478												
SIM1	6492	broad.mit.edu	37	6	100896434	100896434	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr6:100896434C>T	uc003pqj.3	-	6	871	c.664G>A	c.(664-666)GTC>ATC	p.V222I	SIM1_uc010kcu.2_Missense_Mutation_p.V222I	NM_005068	NP_005059	P81133	SIM1_HUMAN	single-minded homolog 1	222	PAS 2.				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			ovary(4)	4		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		ATCTCCGTGACGGCGCTGGGA	0.602												
BEND3	57673	broad.mit.edu	37	6	107391922	107391922	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr6:107391922T>G	uc003prs.2	-	5	1123	c.473A>C	c.(472-474)AAG>ACG	p.K158T		NM_001080450	NP_001073919	Q5T5X7	BEND3_HUMAN	BEN domain containing 3	158										ovary(3)	3						GGCGTTTGCCTTCTCAAAGAG	0.577												
RPF2	84154	broad.mit.edu	37	6	111320954	111320954	+	Silent	SNP	A	A	G			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr6:111320954A>G	uc003pun.2	+	6	376	c.357A>G	c.(355-357)TTA>TTG	p.L119L	RPF2_uc003puo.2_Silent_p.L56L	NM_032194	NP_115570	Q9H7B2	RPF2_HUMAN	brix domain containing 1	119	Brix.					nucleolus	protein binding			ovary(2)	2						TGATTGAATTAGGTATTGAGA	0.338												
REV3L	5980	broad.mit.edu	37	6	111654524	111654524	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr6:111654524T>A	uc003puy.3	-	23	8050	c.7727A>T	c.(7726-7728)TAT>TTT	p.Y2576F	REV3L_uc003pux.3_Missense_Mutation_p.Y2498F|REV3L_uc003puz.3_Missense_Mutation_p.Y2498F|REV3L_uc003pva.1_RNA	NM_002912	NP_002903	O60673	DPOLZ_HUMAN	DNA polymerase zeta	2576					DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding			large_intestine(2)|ovary(2)|skin(2)	6		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		CACAGGAATATAGTTCATTGG	0.438								DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage				
REV3L	5980	broad.mit.edu	37	6	111695100	111695100	+	Silent	SNP	A	A	G			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr6:111695100A>G	uc003puy.3	-	13	4781	c.4458T>C	c.(4456-4458)TTT>TTC	p.F1486F	REV3L_uc003pux.3_Silent_p.F1408F|REV3L_uc003puz.3_Silent_p.F1408F	NM_002912	NP_002903	O60673	DPOLZ_HUMAN	DNA polymerase zeta	1486					DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding			large_intestine(2)|ovary(2)|skin(2)	6		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		TTTCAGGTTTAAAATTTGACA	0.353								DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage				
TRAF3IP2	10758	broad.mit.edu	37	6	111912543	111912543	+	Silent	SNP	C	C	T	rs141106401		TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr6:111912543C>T	uc011ebc.1	-	3	1362	c.747G>A	c.(745-747)CAG>CAA	p.Q249Q	TRAF3IP2_uc003pvg.2_Silent_p.Q249Q|TRAF3IP2_uc003pvf.2_Silent_p.Q249Q|TRAF3IP2_uc010kdw.2_Silent_p.Q249Q|TRAF3IP2_uc010kdx.2_Silent_p.Q249Q	NM_147686	NP_679211	O43734	CIKS_HUMAN	TRAF3 interacting protein 2 isoform 2	258					intracellular signal transduction|positive regulation of I-kappaB kinase/NF-kappaB cascade	intracellular				ovary(2)|central_nervous_system(1)	3		all_cancers(87;7.87e-06)|Acute lymphoblastic leukemia(125;3.61e-09)|all_hematologic(75;2.63e-07)|all_epithelial(87;0.0024)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.033)|all cancers(137;0.0412)|Epithelial(106;0.0732)		GAGGCAGCATCTGTGCACATG	0.542												
KPNA5	3841	broad.mit.edu	37	6	117037453	117037453	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr6:117037453G>A	uc003pxh.2	+	8	859	c.728G>A	c.(727-729)GGC>GAC	p.G243D		NM_002269	NP_002260	O15131	IMA5_HUMAN	karyopherin alpha 5	240	ARM 4.				NLS-bearing substrate import into nucleus	cytoplasm|nuclear pore	protein binding|protein transporter activity			breast(3)|skin(1)	4		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0298)|all cancers(137;0.0461)|OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.212)		TTATGTAGAGGCAAAAACCCT	0.308												
ROS1	6098	broad.mit.edu	37	6	117650526	117650526	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr6:117650526C>A	uc003pxp.1	-	32	5531	c.5332G>T	c.(5332-5334)GGA>TGA	p.G1778*	ROS1_uc011ebi.1_RNA|GOPC_uc003pxq.1_Intron	NM_002944	NP_002935	P08922	ROS_HUMAN	proto-oncogene c-ros-1 protein precursor	1778	Fibronectin type-III 9.|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)		ATTCTACATCCATTATCTTCA	0.323			T	GOPC|ROS1	glioblastoma|NSCLC							
DCBLD1	285761	broad.mit.edu	37	6	117864339	117864339	+	Silent	SNP	G	G	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr6:117864339G>A	uc003pxs.2	+	12	1535	c.1410G>A	c.(1408-1410)GTG>GTA	p.V470V	GOPC_uc003pxq.1_Intron|DCBLD1_uc003pxr.1_Silent_p.V470V|DCBLD1_uc003pxt.1_Silent_p.V125V	NM_173674	NP_775945	Q8N8Z6	DCBD1_HUMAN	discoidin, CUB and LCCL domain containing 1	470	Helical; (Potential).				cell adhesion	integral to membrane				ovary(1)	1		all_cancers(87;0.171)		GBM - Glioblastoma multiforme(226;0.0447)|OV - Ovarian serous cystadenocarcinoma(136;0.0921)|all cancers(137;0.125)		TTGTCCTGGTGTTTGCTGGAA	0.373												
FAM184A	79632	broad.mit.edu	37	6	119281303	119281303	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr6:119281303G>A	uc003pyj.2	-	18	3736	c.3388C>T	c.(3388-3390)CGC>TGC	p.R1130C	FAM184A_uc003pyk.3_Missense_Mutation_p.R961C|FAM184A_uc003pyl.3_Missense_Mutation_p.R926C|FAM184A_uc003pyi.2_RNA	NM_024581	NP_078857	Q8NB25	F184A_HUMAN	hypothetical protein LOC79632 isoform 1	1130										ovary(2)|central_nervous_system(2)|skin(2)|pancreas(1)	7						CACTCCTGGCGCTGGGGATCT	0.428												
CLVS2	134829	broad.mit.edu	37	6	123318992	123318992	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr6:123318992C>A	uc003pzi.1	+	2	939	c.70C>A	c.(70-72)CCA>ACA	p.P24T		NM_001010852	NP_001010852	Q5SYC1	CLVS2_HUMAN	retinaldehyde binding protein 1-like 2	24					lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity			ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	5						CAATGAAAACCCAGACACGCT	0.542												
PTPRK	5796	broad.mit.edu	37	6	128388769	128388769	+	Silent	SNP	C	C	T	rs146089088	byFrequency	TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr6:128388769C>T	uc003qbk.2	-	12	2419	c.2052G>A	c.(2050-2052)CCG>CCA	p.P684P	PTPRK_uc003qbj.2_Silent_p.P684P|PTPRK_uc010kfc.2_Silent_p.P684P|PTPRK_uc011ebu.1_Silent_p.P684P|PTPRK_uc003qbl.1_Silent_p.P554P|PTPRK_uc011ebv.1_Silent_p.P684P	NM_002844	NP_002835	Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K	684	Extracellular (Potential).				cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			ovary(3)|skin(2)|pancreas(1)|kidney(1)|central_nervous_system(1)	8				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		CCACAGTGAACGGGGCAGGCT	0.547												
PTPRK	5796	broad.mit.edu	37	6	128561240	128561240	+	Silent	SNP	G	G	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr6:128561240G>A	uc003qbk.2	-	5	1000	c.633C>T	c.(631-633)AAC>AAT	p.N211N	PTPRK_uc003qbj.2_Silent_p.N211N|PTPRK_uc010kfc.2_Silent_p.N211N|PTPRK_uc011ebu.1_Silent_p.N211N|PTPRK_uc003qbl.1_Silent_p.N81N|PTPRK_uc011ebv.1_Silent_p.N211N	NM_002844	NP_002835	Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K	211	Extracellular (Potential).|Ig-like C2-type.				cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			ovary(3)|skin(2)|pancreas(1)|kidney(1)|central_nervous_system(1)	8				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		GAAATGTAGCGTTTTGCCCTG	0.428												
LAMA2	3908	broad.mit.edu	37	6	129775324	129775324	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr6:129775324C>T	uc003qbn.2	+	46	6703	c.6598C>T	c.(6598-6600)CGT>TGT	p.R2200C	LAMA2_uc003qbo.2_Missense_Mutation_p.R2200C	NM_000426	NP_000417	P24043	LAMA2_HUMAN	laminin alpha 2 subunit isoform a precursor	2200	Laminin G-like 1.				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)		TATAGAAATGCGTAAAGGCAA	0.398												
EPB41L2	2037	broad.mit.edu	37	6	131191139	131191139	+	Missense_Mutation	SNP	C	C	T	rs150621192	byFrequency	TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr6:131191139C>T	uc003qch.2	-	15	2353	c.2171G>A	c.(2170-2172)CGT>CAT	p.R724H	EPB41L2_uc003qce.1_Missense_Mutation_p.R102H|EPB41L2_uc003qcf.1_Intron|EPB41L2_uc003qcg.1_Intron|EPB41L2_uc011eby.1_Intron|EPB41L2_uc003qci.2_Missense_Mutation_p.R654H|EPB41L2_uc010kfk.2_Intron|EPB41L2_uc010kfl.1_Missense_Mutation_p.R654H|EPB41L2_uc003qcd.1_5'Flank|EPB41L2_uc003qcj.1_Missense_Mutation_p.R121H	NM_001431	NP_001422	O43491	E41L2_HUMAN	erythrocyte membrane protein band 4.1-like 2	724					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)		CTCCACCTTACGAATCTCCCC	0.517												
CTGF	1490	broad.mit.edu	37	6	132270619	132270619	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr6:132270619A>G	uc003qcz.2	-	5	1041	c.835T>C	c.(835-837)TAC>CAC	p.Y279H		NM_001901	NP_001892	P29279	CTGF_HUMAN	connective tissue growth factor precursor	279	CTCK.|Heparin-binding.				cellular lipid metabolic process|DNA replication|epidermis development|regulation of cell growth|response to wounding	plasma membrane|proteinaceous extracellular matrix	heparin binding|insulin-like growth factor binding				0	Breast(56;0.0602)			GBM - Glioblastoma multiforme(226;0.015)|OV - Ovarian serous cystadenocarcinoma(155;0.0169)		TTAGCTCGGTATGTCTTCATG	0.532												
MAP3K5	4217	broad.mit.edu	37	6	137018441	137018441	+	Silent	SNP	T	T	C			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr6:137018441T>C	uc003qhc.2	-	5	1252	c.891A>G	c.(889-891)GCA>GCG	p.A297A	MAP3K5_uc011edk.1_Silent_p.A142A|MAP3K5_uc010kgw.1_Silent_p.A297A	NM_005923	NP_005914	Q99683	M3K5_HUMAN	mitogen-activated protein kinase kinase kinase	297					activation of JUN kinase activity|activation of MAPKK activity|cellular response to hydrogen peroxide|induction of apoptosis by extracellular signals|interspecies interaction between organisms		ATP binding|caspase activator activity|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein phosphatase binding			ovary(2)|skin(2)|lung(1)	5	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569)		GCCGAATTCTTGCCAACTCAG	0.393												
HIVEP2	3097	broad.mit.edu	37	6	143093783	143093783	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr6:143093783C>T	uc003qjd.2	-	5	2836	c.2093G>A	c.(2092-2094)CGG>CAG	p.R698Q		NM_006734	NP_006725	P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer	698					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(3)|skin(2)|central_nervous_system(1)	6				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		CTTCTCTTTCCGGCGTTTCCT	0.493												
UTRN	7402	broad.mit.edu	37	6	144724272	144724272	+	Silent	SNP	C	C	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr6:144724272C>T	uc003qkt.2	+	2	185	c.93C>T	c.(91-93)GAC>GAT	p.D31D	UTRN_uc010khq.1_Silent_p.D31D	NM_007124	NP_009055	P46939	UTRO_HUMAN	utrophin	31	CH 1.|Actin-binding.				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			ovary(4)|pancreas(1)	5		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		AACACAATGACGTACAGAAGA	0.368												
UST	10090	broad.mit.edu	37	6	149342520	149342520	+	Silent	SNP	C	C	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr6:149342520C>T	uc003qmg.2	+	7	1136	c.840C>T	c.(838-840)CTC>CTT	p.L280L		NM_005715	NP_005706	Q9Y2C2	UST_HUMAN	uronyl-2-sulfotransferase	280	Lumenal (Potential).				protein sulfation	Golgi membrane|integral to membrane	sulfotransferase activity			ovary(2)	2		Ovarian(120;0.0907)		OV - Ovarian serous cystadenocarcinoma(155;1.78e-10)|GBM - Glioblastoma multiforme(68;0.138)		ACTTCCTGCTCGTGGGGATTC	0.413												
RAET1E	135250	broad.mit.edu	37	6	150210620	150210620	+	Silent	SNP	A	A	G			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr6:150210620A>G	uc003qnl.1	-	3	546	c.486T>C	c.(484-486)CAT>CAC	p.H162H	uc003qni.1_Intron|RAET1E_uc003qnj.2_Silent_p.H162H|RAET1E_uc003qnk.1_Silent_p.H126H|RAET1E_uc010kih.1_RNA	NM_139165	NP_631904	Q8TD07	N2DL4_HUMAN	retinoic acid early transcript 1E precursor	162	Extracellular (Potential).|MHC class I alpha-2 like.				antigen processing and presentation|immune response|regulation of immune response	integral to membrane|MHC class I protein complex	protein binding				0		Ovarian(120;0.0907)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.58e-12)		TACTGGCTTCATGATTAATTA	0.483												
ESR1	2099	broad.mit.edu	37	6	152129084	152129084	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr6:152129084G>A	uc003qom.3	+	3	407	c.37G>A	c.(37-39)GCC>ACC	p.A13T	ESR1_uc010kin.2_Missense_Mutation_p.A13T|ESR1_uc010kio.2_Missense_Mutation_p.A13T|ESR1_uc010kip.2_Missense_Mutation_p.A13T|ESR1_uc003qon.3_Missense_Mutation_p.A13T|ESR1_uc003qoo.3_Missense_Mutation_p.A13T|ESR1_uc010kiq.2_5'UTR|ESR1_uc010kir.2_Missense_Mutation_p.A13T	NM_001122742	NP_001116214	P03372	ESR1_HUMAN	estrogen receptor alpha isoform 4	13	Modulating; mediates interaction with MACROD1.				positive regulation of retinoic acid receptor signaling pathway|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to estradiol stimulus	chromatin remodeling complex|cytoplasm|nucleoplasm	beta-catenin binding|enzyme binding|estrogen receptor activity|estrogen response element binding|nitric-oxide synthase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|zinc ion binding			central_nervous_system(2)|ovary(1)|lung(1)|breast(1)	5		Ovarian(120;0.0448)	BRCA - Breast invasive adenocarcinoma(37;0.0841)	OV - Ovarian serous cystadenocarcinoma(155;4.55e-10)	Chlorotrianisene(DB00269)|Clomifene(DB00882)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Desogestrel(DB00304)|Dienestrol(DB00890)|Diethylstilbestrol(DB00255)|Dromostanolone(DB00858)|Drospirenone(DB01395)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Fluoxymesterone(DB01185)|Fulvestrant(DB00947)|Letrozole(DB01006)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Melatonin(DB01065)|Mestranol(DB01357)|Naloxone(DB01183)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)|Quinestrol(DB04575)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Toremifene(DB00539)	ATCTGGGATGGCCCTACTGCA	0.657												
SYNE1	23345	broad.mit.edu	37	6	152711422	152711422	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr6:152711422C>T	uc010kiw.2	-	53	8772	c.8170G>A	c.(8170-8172)GCT>ACT	p.A2724T	SYNE1_uc003qot.3_Missense_Mutation_p.A2731T|SYNE1_uc003qou.3_Missense_Mutation_p.A2724T|SYNE1_uc010kjb.1_Missense_Mutation_p.A2707T	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	2724	Cytoplasmic (Potential).|HAT 5.				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TACCTTTGAGCGTGGACGGAG	0.463										HNSCC(10;0.0054)		
IPCEF1	26034	broad.mit.edu	37	6	154489165	154489165	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr6:154489165G>A	uc003qpx.2	-	11	1147	c.991C>T	c.(991-993)CGA>TGA	p.R331*	OPRM1_uc003qpt.1_Intron|IPCEF1_uc003qpv.2_Nonsense_Mutation_p.R202*|IPCEF1_uc003qpw.2_Nonsense_Mutation_p.R332*|IPCEF1_uc010kjh.2_Nonsense_Mutation_p.R332*	NM_015553	NP_056368	Q8WWN9	ICEF1_HUMAN	phosphoinositide-binding protein PIP3-E isoform	331					response to oxidative stress	cytoplasm|plasma membrane	oxygen transporter activity|peroxidase activity				0						GAAGGTCGTCGGTCCCCAAGA	0.368												
NOX3	50508	broad.mit.edu	37	6	155761270	155761270	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr6:155761270T>C	uc003qqm.2	-	6	591	c.488A>G	c.(487-489)AAC>AGC	p.N163S		NM_015718	NP_056533	Q9HBY0	NOX3_HUMAN	NADPH oxidase 3	163	Ferric oxidoreductase.|Extracellular (Potential).						electron carrier activity|flavin adenine dinucleotide binding|iron ion binding			ovary(1)	1		Breast(66;0.0183)		OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815)		AGTGGTTGTGTTCTaaaaaaa	0.323												
T	6862	broad.mit.edu	37	6	166580961	166580961	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr6:166580961C>T	uc003quu.1	-	2	612	c.119G>A	c.(118-120)CGC>CAC	p.R40H	T_uc003qut.1_Missense_Mutation_p.R40H|T_uc003quv.1_Missense_Mutation_p.R40H	NM_003181	NP_003172	O15178	BRAC_HUMAN	transcription factor T	40					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)		GCGCAGTTCGCGCTCTGTGGG	0.652									Chordoma_Familial_Clustering_of			
TTLL2	83887	broad.mit.edu	37	6	167754476	167754476	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr6:167754476C>T	uc003qvs.1	+	3	1176	c.1088C>T	c.(1087-1089)GCT>GTT	p.A363V	TTLL2_uc011egr.1_RNA	NM_031949	NP_114155	Q9BWV7	TTLL2_HUMAN	tubulin tyrosine ligase-like family, member 2	363	TTL.				protein modification process		ATP binding|tubulin-tyrosine ligase activity			ovary(1)|central_nervous_system(1)|skin(1)	3		Breast(66;7.8e-06)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		GTCCCCTTTGCTGCCAATTGC	0.458												
MLLT4	4301	broad.mit.edu	37	6	168319469	168319469	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr6:168319469C>T	uc003qwd.2	+	20	2882	c.2740C>T	c.(2740-2742)CGC>TGC	p.R914C	MLLT4_uc003qwb.1_Missense_Mutation_p.R899C|MLLT4_uc003qwc.1_Missense_Mutation_p.R915C|MLLT4_uc003qwg.1_Missense_Mutation_p.R224C	NM_001040001	NP_001035090	P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia	915					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)		TGAGCTGGCCCGCAGTGATGG	0.448			T	MLL	AL							
THBS2	7058	broad.mit.edu	37	6	169648977	169648977	+	Silent	SNP	G	G	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr6:169648977G>A	uc003qwt.2	-	4	392	c.144C>T	c.(142-144)CCC>CCT	p.P48P		NM_003247	NP_003238	P35442	TSP2_HUMAN	thrombospondin 2 precursor	48	TSP N-terminal.|Heparin-binding (Potential).				cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity			ovary(5)	5		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		CGCCGGGGTCGGGCCCGCGGA	0.582												
MICALL2	79778	broad.mit.edu	37	7	1478512	1478512	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr7:1478512C>T	uc003skj.3	-	10	2233	c.2086G>A	c.(2086-2088)GAG>AAG	p.E696K	MICALL2_uc003skh.3_5'UTR|MICALL2_uc003ski.3_Missense_Mutation_p.E183K	NM_182924	NP_891554	Q8IY33	MILK2_HUMAN	MICAL-like 2 isoform 1	696						cytoplasm|cytoskeleton	zinc ion binding			central_nervous_system(1)	1		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;6.01e-15)		TTCTCCTCCTCCTTCCAGCTC	0.642												
SLC29A4	222962	broad.mit.edu	37	7	5340174	5340174	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr7:5340174G>A	uc003sod.2	+	10	1492	c.1331G>A	c.(1330-1332)CGT>CAT	p.R444H	SLC29A4_uc003soc.2_Missense_Mutation_p.R444H|SLC29A4_uc003soe.2_Missense_Mutation_p.R430H|SLC29A4_uc010ksw.2_Intron	NM_153247	NP_694979	Q7RTT9	S29A4_HUMAN	solute carrier family 29 (nucleoside	444	Extracellular (Potential).				nucleobase, nucleoside and nucleotide metabolic process	apical plasma membrane|integral to membrane	nucleoside transmembrane transporter activity			liver(1)	1		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0903)|OV - Ovarian serous cystadenocarcinoma(56;2.65e-15)		CCCGCCCTCCGTCACCCCGCC	0.667												
TNRC18	84629	broad.mit.edu	37	7	5396806	5396806	+	Silent	SNP	G	G	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr7:5396806G>A	uc003soi.3	-	16	5284	c.4935C>T	c.(4933-4935)CCC>CCT	p.P1645P	TNRC18_uc003soj.2_Silent_p.P27P	NM_001080495	NP_001073964	O15417	TNC18_HUMAN	trinucleotide repeat containing 18	1645							DNA binding				0		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		AAAACTTGAAGGGCGACTTCA	0.547												
RNF216	54476	broad.mit.edu	37	7	5662498	5662498	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr7:5662498C>T	uc003soy.1	-	17	2784	c.2594G>A	c.(2593-2595)CGC>CAC	p.R865H	RNF216_uc010ksz.1_Missense_Mutation_p.R487H|RNF216_uc010kta.1_Missense_Mutation_p.R487H|RNF216_uc011jwj.1_Missense_Mutation_p.R487H|RNF216_uc003sox.1_Missense_Mutation_p.R922H	NM_207116	NP_996999	Q9NWF9	RN216_HUMAN	ring finger protein 216 isoform b	865					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)		CCATCAGAAGCGATGCCGCGG	0.617												
USP42	84132	broad.mit.edu	37	7	6155062	6155062	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr7:6155062G>A	uc011jwo.1	+	3	473	c.350G>A	c.(349-351)GGC>GAC	p.G117D	USP42_uc011jwn.1_5'UTR|USP42_uc010kth.1_Intron|USP42_uc011jwp.1_Missense_Mutation_p.G117D|USP42_uc011jwq.1_5'UTR|USP42_uc011jwr.1_5'Flank	NM_032172	NP_115548	Q9H9J4	UBP42_HUMAN	ubiquitin specific peptidase 42	117					cell differentiation|protein deubiquitination|spermatogenesis|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			skin(2)|ovary(1)|pancreas(1)|breast(1)	5		Ovarian(82;0.0423)		UCEC - Uterine corpus endometrioid carcinoma (126;0.108)|OV - Ovarian serous cystadenocarcinoma(56;5.77e-14)		CAGAATTTGGGCAATACCTGT	0.443												
GLCCI1	113263	broad.mit.edu	37	7	8125841	8125841	+	Silent	SNP	G	G	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr7:8125841G>A	uc003srk.2	+	8	1876	c.1317G>A	c.(1315-1317)TCG>TCA	p.S439S		NM_138426	NP_612435	Q86VQ1	GLCI1_HUMAN	glucocorticoid induced transcript 1	439											0		Ovarian(82;0.0608)		UCEC - Uterine corpus endometrioid carcinoma (126;0.206)		AGCCTATCTCGGCCCCTCTCT	0.388												
PHF14	9678	broad.mit.edu	37	7	11022051	11022051	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr7:11022051A>C	uc003sry.1	+	3	600	c.165A>C	c.(163-165)GAA>GAC	p.E55D	PHF14_uc011jxi.1_Intron|PHF14_uc003srz.2_Missense_Mutation_p.E55D|PHF14_uc011jxj.1_Intron	NM_014660	NP_055475	O94880	PHF14_HUMAN	PHD finger protein 14 isoform 2	55							zinc ion binding			kidney(2)|skin(1)	3				UCEC - Uterine corpus endometrioid carcinoma (126;0.205)		ACAGTGGAGAAGGTTCCTGTA	0.294												
SCIN	85477	broad.mit.edu	37	7	12683795	12683795	+	Silent	SNP	C	C	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr7:12683795C>T	uc003ssn.3	+	12	1824	c.1614C>T	c.(1612-1614)AAC>AAT	p.N538N	SCIN_uc010ktt.2_Intron|SCIN_uc003sso.3_Silent_p.N291N	NM_001112706	NP_001106177	Q9Y6U3	ADSV_HUMAN	scinderin isoform 1	538	Ca(2+)-dependent actin binding.|Gelsolin-like 5.				actin filament capping|actin filament severing|actin nucleation|calcium ion-dependent exocytosis|negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of megakaryocyte differentiation|positive regulation of secretion|regulation of chondrocyte differentiation	cell cortex|cytoskeleton	1-phosphatidylinositol binding|actin filament binding|calcium ion binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding			ovary(2)	2				UCEC - Uterine corpus endometrioid carcinoma (126;0.195)		TGAATTCTAACGATGTTTTTG	0.403												
HDAC9	9734	broad.mit.edu	37	7	18630000	18630000	+	Silent	SNP	C	C	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr7:18630000C>A	uc003suh.2	+	3	338	c.297C>A	c.(295-297)CTC>CTA	p.L99L	HDAC9_uc003sue.2_Silent_p.L99L|HDAC9_uc011jyd.1_Silent_p.L99L|HDAC9_uc003sui.2_Silent_p.L102L|HDAC9_uc003suj.2_Silent_p.L102L|HDAC9_uc011jya.1_Silent_p.L140L|HDAC9_uc003sua.1_Silent_p.L121L|HDAC9_uc011jyb.1_Silent_p.L99L|HDAC9_uc003sud.1_Silent_p.L99L|HDAC9_uc011jyc.1_Silent_p.L102L|HDAC9_uc003suf.1_Silent_p.L130L|HDAC9_uc010kud.1_Silent_p.L102L|HDAC9_uc011jye.1_Silent_p.L71L|HDAC9_uc011jyf.1_Silent_p.L68L|HDAC9_uc010kue.1_5'UTR	NM_058176	NP_478056	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9 isoform 1	99				L -> I (in Ref. 8; AAF04254).	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)	AACAAGAACTCCTAGAAAAGG	0.458												
HDAC9	9734	broad.mit.edu	37	7	18875107	18875107	+	Silent	SNP	C	C	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr7:18875107C>T	uc003suh.2	+	19	2516	c.2475C>T	c.(2473-2475)AAC>AAT	p.N825N	HDAC9_uc003sue.2_Silent_p.N825N|HDAC9_uc011jyd.1_Silent_p.N825N|HDAC9_uc003sui.2_Silent_p.N828N|HDAC9_uc003suj.2_Silent_p.N784N|HDAC9_uc003suk.2_Silent_p.N73N	NM_058176	NP_478056	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9 isoform 1	825	Histone deacetylase.				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)	ACCATGGAAACGGTACCCAGC	0.463												
CDCA7L	55536	broad.mit.edu	37	7	21942601	21942601	+	Silent	SNP	C	C	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr7:21942601C>T	uc010kuk.2	-	9	1449	c.1329G>A	c.(1327-1329)CTG>CTA	p.L443L	CDCA7L_uc003sve.3_Silent_p.L409L|CDCA7L_uc010kul.2_Silent_p.L397L|CDCA7L_uc003svf.3_Silent_p.L442L	NM_018719	NP_061189	Q96GN5	CDA7L_HUMAN	cell division cycle associated 7-like isoform 1	443					positive regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus					0						CTTACCTCTCCAGATATTCCT	0.483												
RAPGEF5	9771	broad.mit.edu	37	7	22206738	22206738	+	Silent	SNP	C	C	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr7:22206738C>T	uc011jym.1	-	2	398	c.324G>A	c.(322-324)ACG>ACA	p.T108T	RAPGEF5_uc003svg.2_Silent_p.T258T			Q92565	RPGF5_HUMAN	Synthetic construct DNA, clone: pF1KSDA0277, Homo sapiens RAPGEF5 gene for Rap guanine nucleotide exchange factor 5, complete cds, without stop codon, in Flexi system.	108	N-terminal Ras-GEF.				nervous system development|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	nucleus	GTP-dependent protein binding|Rap guanyl-nucleotide exchange factor activity			ovary(1)	1						AGACAGTGTACGTGAGAAGGA	0.453												
HOXA2	3199	broad.mit.edu	37	7	27140675	27140675	+	Silent	SNP	G	G	A	rs140022054		TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr7:27140675G>A	uc003syh.2	-	2	1076	c.801C>T	c.(799-801)GGC>GGT	p.G267G		NM_006735	NP_006726	O43364	HXA2_HUMAN	homeobox A2	267						nucleus	sequence-specific DNA binding transcription factor activity			ovary(1)|skin(1)	2						TTTGGGAGTCGCCATTGTGTC	0.507												
HOXA5	3202	broad.mit.edu	37	7	27181672	27181672	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr7:27181672G>A	uc003syn.1	-	2	656	c.595C>T	c.(595-597)CGG>TGG	p.R199W		NM_019102	NP_061975	P20719	HXA5_HUMAN	homeobox A5	199	Homeobox.				negative regulation of angiogenesis|negative regulation of erythrocyte differentiation|positive regulation of apoptosis|positive regulation of myeloid cell differentiation|positive regulation of receptor biosynthetic process|positive regulation of transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0						TAGGCCGTCCGGGCCCTTTTG	0.562											OREG0017911	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
WIPF3	644150	broad.mit.edu	37	7	29918676	29918676	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr7:29918676C>T	uc003taj.1	+	3	275	c.275C>T	c.(274-276)GCG>GTG	p.A92V		NM_001080529	NP_001073998	A6NGB9	WIPF3_HUMAN	WAS/WASL interacting protein family, member 3	92										ovary(1)	1						ACACGAGGCGCGAGCACACCT	0.517												
CCDC129	223075	broad.mit.edu	37	7	31692254	31692254	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr7:31692254G>T	uc003tcj.1	+	14	3939	c.2946G>T	c.(2944-2946)AGG>AGT	p.R982S	CCDC129_uc011kad.1_Missense_Mutation_p.R992S|CCDC129_uc003tci.1_Missense_Mutation_p.R833S|CCDC129_uc011kae.1_Missense_Mutation_p.R1008S|CCDC129_uc003tck.1_Missense_Mutation_p.R890S	NM_194300	NP_919276	Q6ZRS4	CC129_HUMAN	coiled-coil domain containing 129	982											0						TGGCCCCGAGGACTGTGTTTC	0.522												
CCDC129	223075	broad.mit.edu	37	7	31692285	31692285	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr7:31692285G>A	uc003tcj.1	+	14	3970	c.2977G>A	c.(2977-2979)GCT>ACT	p.A993T	CCDC129_uc011kad.1_Missense_Mutation_p.A1003T|CCDC129_uc003tci.1_Missense_Mutation_p.A844T|CCDC129_uc011kae.1_Missense_Mutation_p.A1019T|CCDC129_uc003tck.1_Missense_Mutation_p.A901T	NM_194300	NP_919276	Q6ZRS4	CC129_HUMAN	coiled-coil domain containing 129	993											0						TGGCCAGGAGGCTCCCTGTTC	0.532												
HECW1	23072	broad.mit.edu	37	7	43477677	43477677	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr7:43477677A>G	uc003tid.1	+	9	1482	c.877A>G	c.(877-879)ATC>GTC	p.I293V	HECW1_uc011kbi.1_Missense_Mutation_p.I293V|HECW1_uc003tie.1_Missense_Mutation_p.I325V	NM_015052	NP_055867	Q76N89	HECW1_HUMAN	NEDD4-like ubiquitin-protein ligase 1	293	C2.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			ovary(8)|lung(6)|breast(4)|skin(4)|pancreas(1)	23						GAGCCGCCCCATCATCAAGCG	0.483												
URGCP	55665	broad.mit.edu	37	7	43918266	43918266	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr7:43918266C>T	uc003tiw.2	-	6	853	c.796G>A	c.(796-798)GTG>ATG	p.V266M	URGCP_uc003tiu.2_Missense_Mutation_p.V223M|URGCP_uc003tiv.2_Missense_Mutation_p.V191M|URGCP_uc003tix.2_Missense_Mutation_p.V257M|URGCP_uc003tiy.2_Missense_Mutation_p.V223M|URGCP_uc003tiz.2_Missense_Mutation_p.V223M|URGCP_uc011kbj.1_Missense_Mutation_p.V223M	NM_001077663	NP_001071131	Q8TCY9	URGCP_HUMAN	up-regulated gene 4 isoform 3	266					cell cycle	centrosome|nucleus	GTP binding			ovary(2)|liver(1)|skin(1)	4						TCCATGCGCACGAAGGCGAAG	0.652												
ZNF107	51427	broad.mit.edu	37	7	64168629	64168629	+	Silent	SNP	A	A	G			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr7:64168629A>G	uc003ttd.2	+	7	2733	c.1947A>G	c.(1945-1947)TCA>TCG	p.S649S	ZNF107_uc003tte.2_Silent_p.S649S	NM_016220	NP_057304	Q9UII5	ZN107_HUMAN	zinc finger protein 107	649	C2H2-type 21.				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)				ACTGCTCCTCAACCCTTAATA	0.373												
CALN1	83698	broad.mit.edu	37	7	71252835	71252835	+	Silent	SNP	G	G	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr7:71252835G>A	uc003twa.3	-	6	1112	c.585C>T	c.(583-585)TGC>TGT	p.C195C	CALN1_uc003twb.3_Silent_p.C237C|CALN1_uc003twc.3_Silent_p.C195C	NM_001017440	NP_001017440	Q9BXU9	CABP8_HUMAN	calneuron 1 isoform 2	195	Helical; Anchor for type IV membrane protein; (Potential).					Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|plasma membrane	calcium ion binding			skin(1)	1		all_cancers(73;0.069)|Lung NSC(55;0.0658)|all_lung(88;0.0912)|all_epithelial(88;0.161)				TAGCAAAGGCGCATATGAGGC	0.572												
PHTF2	57157	broad.mit.edu	37	7	77567104	77567104	+	Silent	SNP	T	T	C			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr7:77567104T>C	uc003ugs.3	+	12	1542	c.1416T>C	c.(1414-1416)TGT>TGC	p.C472C	PHTF2_uc003ugp.2_Silent_p.C434C|PHTF2_uc003ugq.3_Silent_p.C434C|PHTF2_uc010ldv.2_Silent_p.C434C|PHTF2_uc003ugt.3_Silent_p.C438C|PHTF2_uc003ugu.3_Silent_p.C434C|PHTF2_uc003ugv.2_Silent_p.C297C|PHTF2_uc010ldw.1_Intron	NM_001127357	NP_001120829	Q8N3S3	PHTF2_HUMAN	putative homeodomain transcription factor 2	472					regulation of transcription, DNA-dependent|transcription, DNA-dependent	endoplasmic reticulum|nucleus	DNA binding			ovary(1)	1						GTAATGATTGTAAGAAAGCAG	0.318												
MAGI2	9863	broad.mit.edu	37	7	78636481	78636481	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr7:78636481G>A	uc003ugx.2	-	2	597	c.343C>T	c.(343-345)CGA>TGA	p.R115*	MAGI2_uc003ugy.2_Nonsense_Mutation_p.R115*	NM_012301	NP_036433	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ	115	Guanylate kinase-like.					cell junction|synapse|synaptosome	phosphatase binding			ovary(5)|lung(4)|breast(1)|skin(1)	11		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				TTTTGAAATCGTAAGTTGAGG	0.383												
GNAT3	346562	broad.mit.edu	37	7	80108232	80108232	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr7:80108232C>T	uc011kgu.1	-	4	386	c.386G>A	c.(385-387)CGG>CAG	p.R129Q	CD36_uc003uhc.2_Intron	NM_001102386	NP_001095856	A8MTJ3	GNAT3_HUMAN	guanine nucleotide binding protein, alpha	129					detection of chemical stimulus involved in sensory perception of bitter taste|G-protein signaling, coupled to cAMP nucleotide second messenger|rhodopsin mediated phototransduction|sensory perception of sweet taste|sensory perception of umami taste	cytoplasm|heterotrimeric G-protein complex|photoreceptor inner segment|photoreceptor outer segment	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity			ovary(1)	1						TCTCCACAGCCGTTTTATTAC	0.443												
PCLO	27445	broad.mit.edu	37	7	82544741	82544741	+	Silent	SNP	C	C	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr7:82544741C>T	uc003uhx.2	-	7	12850	c.12561G>A	c.(12559-12561)AAG>AAA	p.K4187K	PCLO_uc003uhv.2_Silent_p.K4187K|PCLO_uc010lec.2_Silent_p.K1152K	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	piccolo isoform 1	4118					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			ovary(7)	7						GCTTTGACTGCTTTTGATAAA	0.353												
ZNF804B	219578	broad.mit.edu	37	7	88963180	88963180	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr7:88963180C>A	uc011khi.1	+	4	1422	c.884C>A	c.(883-885)ACC>AAC	p.T295N		NM_181646	NP_857597	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	295						intracellular	zinc ion binding			ovary(5)|skin(3)|pancreas(2)|upper_aerodigestive_tract(1)	11	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			TTACACAATACCATCTCCATA	0.363										HNSCC(36;0.09)		
STEAP1	26872	broad.mit.edu	37	7	89790622	89790622	+	Silent	SNP	A	A	G			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr7:89790622A>G	uc003ujx.2	+	3	788	c.588A>G	c.(586-588)GCA>GCG	p.A196A	STEAP1_uc010lem.2_Silent_p.A196A	NM_012449	NP_036581	Q9UHE8	STEA1_HUMAN	six transmembrane epithelial antigen of the	196	Ferric oxidoreductase.				electron transport chain|ion transport|iron ion homeostasis	cell-cell junction|endosome membrane|integral to plasma membrane	channel activity|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity				0	all_hematologic(106;0.112)					TAAACTGGGCATATCAACAGG	0.368												
AKAP9	10142	broad.mit.edu	37	7	91632476	91632476	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr7:91632476C>T	uc003ulg.2	+	8	3470	c.3245C>T	c.(3244-3246)TCA>TTA	p.S1082L	AKAP9_uc003ule.2_Missense_Mutation_p.S1094L|AKAP9_uc003ulf.2_Missense_Mutation_p.S1082L|AKAP9_uc003uli.2_Missense_Mutation_p.S707L	NM_005751	NP_005742	Q99996	AKAP9_HUMAN	A-kinase anchor protein 9 isoform 2	1094					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)			ACAAAGGAATCATCACTTAGA	0.323			T	BRAF	papillary thyroid							
CASD1	64921	broad.mit.edu	37	7	94168365	94168365	+	Silent	SNP	T	T	C			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr7:94168365T>C	uc003uni.3	+	10	1580	c.1353T>C	c.(1351-1353)AGT>AGC	p.S451S	CASD1_uc003unj.3_Silent_p.S451S	NM_022900	NP_075051	Q96PB1	CASD1_HUMAN	CAS1 domain containing 1 precursor	451	Helical; (Potential).					integral to membrane				ovary(2)	2	all_cancers(62;6.71e-10)|all_epithelial(64;5e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			CTGGAGCAAGTACAGTAAGTA	0.328												
BAIAP2L1	55971	broad.mit.edu	37	7	97935802	97935802	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr7:97935802G>A	uc003upj.2	-	11	1453	c.1190C>T	c.(1189-1191)ACG>ATG	p.T397M	uc003upk.1_5'Flank	NM_018842	NP_061330	Q9UHR4	BI2L1_HUMAN	BAI1-associated protein 2-like 1	397	SH3.				filopodium assembly|positive regulation of actin cytoskeleton reorganization|positive regulation of actin filament polymerization|response to bacterium|signal transduction	cell junction|cytoskeleton|cytosol|nucleus	actin binding|cytoskeletal adaptor activity|proline-rich region binding|SH3 domain binding			ovary(1)	1	all_cancers(62;4.34e-10)|all_epithelial(64;5e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0113)|all_lung(186;0.0126)		STAD - Stomach adenocarcinoma(171;0.215)			CAGCAACTTCGTGTACGACGA	0.567												
TRRAP	8295	broad.mit.edu	37	7	98534814	98534814	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr7:98534814A>G	uc003upp.2	+	29	4356	c.4147A>G	c.(4147-4149)AGG>GGG	p.R1383G	TRRAP_uc011kis.1_Missense_Mutation_p.R1383G|TRRAP_uc003upr.2_Missense_Mutation_p.R1075G	NM_003496	NP_003487	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated	1383					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)			TCCTCAGTCCAGGGAGAAAAT	0.413												
TRRAP	8295	broad.mit.edu	37	7	98580976	98580976	+	Silent	SNP	C	C	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr7:98580976C>T	uc003upp.2	+	59	9104	c.8895C>T	c.(8893-8895)CAC>CAT	p.H2965H	TRRAP_uc011kis.1_Silent_p.H2947H|TRRAP_uc003upr.2_Silent_p.H2664H	NM_003496	NP_003487	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated	2965	FAT.				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)			ACAGCCTGCACGACATGAAGA	0.552												
LRCH4	4034	broad.mit.edu	37	7	100175014	100175014	+	Splice_Site	SNP	T	T	C			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr7:100175014T>C	uc003uvj.2	-	11	1232	c.1179_splice	c.e11-1	p.R393_splice	LRCH4_uc010lgz.2_Splice_Site|LRCH4_uc003uvi.2_Splice_Site|LRCH4_uc011kjw.1_Splice_Site|LRCH4_uc011kjx.1_Splice_Site	NM_002319	NP_002310	O75427	LRCH4_HUMAN	leucine-rich repeats and calponin homology (CH)						nervous system development	PML body	protein binding			large_intestine(1)|ovary(1)	2	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TCCTCCCGCCTGAGGGACCAA	0.731												
MLL5	55904	broad.mit.edu	37	7	104742433	104742433	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr7:104742433A>G	uc003vcm.2	+	17	2522	c.1988A>G	c.(1987-1989)CAG>CGG	p.Q663R	MLL5_uc010ljc.2_Missense_Mutation_p.Q663R|MLL5_uc010lje.1_RNA	NM_182931	NP_891847	Q8IZD2	MLL5_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 5	663					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						CACATTGGACAGCAGCGTCGG	0.398												
MLL5	55904	broad.mit.edu	37	7	104748331	104748331	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr7:104748331G>A	uc003vcm.2	+	22	3961	c.3427G>A	c.(3427-3429)GAC>AAC	p.D1143N	MLL5_uc010ljc.2_Missense_Mutation_p.D1143N|MLL5_uc010lje.1_RNA|MLL5_uc010ljf.1_RNA|MLL5_uc010ljg.2_5'UTR|MLL5_uc010ljh.1_5'Flank	NM_182931	NP_891847	Q8IZD2	MLL5_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 5	1143					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						CAATTTGATCGACGGGAATTG	0.348												
TMEM168	64418	broad.mit.edu	37	7	112407372	112407372	+	Silent	SNP	G	G	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr7:112407372G>A	uc003vgn.2	-	5	2366	c.1974C>T	c.(1972-1974)TGC>TGT	p.C658C	TMEM168_uc010lju.2_Silent_p.C658C|TMEM168_uc011kmr.1_Silent_p.C274C	NM_022484	NP_071929	Q9H0V1	TM168_HUMAN	transmembrane protein 168	658	Helical; (Potential).					integral to membrane|transport vesicle				ovary(1)|central_nervous_system(1)	2						GGTTCAGACCGCATAACCAAT	0.433												
FOXP2	93986	broad.mit.edu	37	7	114299690	114299690	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr7:114299690A>G	uc003vhb.2	+	13	1983	c.1609A>G	c.(1609-1611)ACA>GCA	p.T537A	FOXP2_uc003vgu.2_RNA|FOXP2_uc003vgz.2_Missense_Mutation_p.T562A|FOXP2_uc003vha.2_Missense_Mutation_p.T445A|FOXP2_uc011kmu.1_Missense_Mutation_p.T554A|FOXP2_uc011kmv.1_Missense_Mutation_p.T536A|FOXP2_uc010ljz.1_Missense_Mutation_p.T352A|FOXP2_uc003vhe.1_Missense_Mutation_p.T107A	NM_014491	NP_055306	O15409	FOXP2_HUMAN	forkhead box P2 isoform I	537	Fork-head.				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						GTTTACACGGACATTTGCTTA	0.333												
RNF148	378925	broad.mit.edu	37	7	122341990	122341990	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr7:122341990C>T	uc003vkk.1	-	1	1032	c.815G>A	c.(814-816)CGC>CAC	p.R272H	CADPS2_uc010lkp.2_Intron|CADPS2_uc010lkq.2_Intron|RNF133_uc003vkj.1_5'Flank|RNF148_uc010lkr.1_3'UTR	NM_198085	NP_932351	Q8N7C7	RN148_HUMAN	ring finger protein 148 precursor	272	RING-type; atypical.					integral to membrane	zinc ion binding				0						AGTTAAAATGCGTACTACATC	0.418												
LRRC4	64101	broad.mit.edu	37	7	127669218	127669218	+	Silent	SNP	C	C	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr7:127669218C>T	uc003vmk.2	-	2	1613	c.1476G>A	c.(1474-1476)ACG>ACA	p.T492T	SND1_uc003vmi.2_Intron|SND1_uc010lle.2_Intron	NM_022143	NP_071426	Q9HBW1	LRRC4_HUMAN	leucine rich repeat containing 4 precursor	492	Thr-rich.|Extracellular (Potential).					cell junction|integral to membrane|postsynaptic membrane				large_intestine(1)|breast(1)|central_nervous_system(1)|pancreas(1)	4				Lung(243;0.124)		GAATGAGCACCGTGGTAGAGG	0.562												
IMPDH1	3614	broad.mit.edu	37	7	128038480	128038480	+	Silent	SNP	G	G	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr7:128038480G>A	uc011kol.1	-	7	913	c.807C>T	c.(805-807)GAC>GAT	p.D269D	IMPDH1_uc011kom.1_Silent_p.D264D|IMPDH1_uc003vmt.2_Silent_p.D244D|IMPDH1_uc003vmu.2_Silent_p.D354D|IMPDH1_uc003vmw.2_Silent_p.D344D|IMPDH1_uc011kon.1_Silent_p.D321D|IMPDH1_uc003vmv.2_Silent_p.D318D|IMPDH1_uc003vmx.2_Silent_p.D277D|IMPDH1_uc003vmy.2_Silent_p.D285D	NM_001142573	NP_001136045	P20839	IMDH1_HUMAN	inosine monophosphate dehydrogenase 1 isoform e	269	NAD (By similarity).				GMP biosynthetic process|purine base metabolic process	cytosol|nucleus	DNA binding|IMP dehydrogenase activity|metal ion binding			skin(2)|lung(1)|central_nervous_system(1)	4					Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|NADH(DB00157)|Ribavirin(DB00811)|Thioguanine(DB00352)	AGACTATGACGTCGACGCCCG	0.587											OREG0018292	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
CPA4	51200	broad.mit.edu	37	7	129950820	129950820	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr7:129950820G>T	uc003vpr.2	+	9	1034	c.987G>T	c.(985-987)GAG>GAT	p.E329D	CPA4_uc011kpd.1_Missense_Mutation_p.E296D|CPA4_uc011kpe.1_Missense_Mutation_p.E225D	NM_016352	NP_057436	Q9UI42	CBPA4_HUMAN	carboxypeptidase A4 preproprotein	329					histone acetylation|proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding			ovary(1)	1	Melanoma(18;0.0435)					CAGATGCCGAGGAACTCGTGA	0.567												
TTC26	79989	broad.mit.edu	37	7	138832998	138832998	+	Silent	SNP	T	T	C	rs144351469		TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr7:138832998T>C	uc003vus.2	+	7	706	c.592T>C	c.(592-594)TTG>CTG	p.L198L	TTC26_uc003vuq.2_Silent_p.L198L|TTC26_uc011kqm.1_Intron|TTC26_uc003vur.3_Silent_p.L198L|TTC26_uc011kqn.1_Silent_p.L198L|TTC26_uc011kqo.1_Silent_p.L167L|TTC26_uc011kqp.1_Silent_p.L93L|TTC26_uc003vut.2_Silent_p.L58L|TTC26_uc011kqq.1_Intron	NM_024926	NP_079202	A0AVF1	TTC26_HUMAN	tetratricopeptide repeat domain 26 isoform 1	198							binding			ovary(1)	1						CTACTACAAGTTGGATTACTA	0.388												
SLC37A3	84255	broad.mit.edu	37	7	140051864	140051864	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr7:140051864A>T	uc003vvo.2	-	8	867	c.701T>A	c.(700-702)ATT>AAT	p.I234N	SLC37A3_uc003vvp.2_Missense_Mutation_p.I234N|SLC37A3_uc010lnh.2_Missense_Mutation_p.I234N|SLC37A3_uc011kqz.1_RNA|SLC37A3_uc011kra.1_Missense_Mutation_p.I234N|SLC37A3_uc011krb.1_Missense_Mutation_p.I206N	NM_207113	NP_996996	Q8NCC5	SPX3_HUMAN	solute carrier family 37 (glycerol-3-phosphate	234					carbohydrate transport|transmembrane transport	integral to membrane				ovary(3)	3	Melanoma(164;0.0142)					CTCCTCACCAATTTCTTCTGG	0.478												
CASP2	835	broad.mit.edu	37	7	142997069	142997069	+	Silent	SNP	G	G	A	rs114290247	byFrequency	TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr7:142997069G>A	uc003wco.2	+	7	948	c.801G>A	c.(799-801)ACG>ACA	p.T267T	CASP2_uc003wcp.2_3'UTR|CASP2_uc011kta.1_Silent_p.T151T|CASP2_uc003wcq.2_RNA|CASP2_uc011ktb.1_Silent_p.T17T	NM_032982	NP_116764	P42575	CASP2_HUMAN	caspase 2 isoform 1 preproprotein	267					apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|protein maturation by peptide bond cleavage	cytosol	cysteine-type endopeptidase activity|enzyme binding|protein binding|protein domain specific binding			lung(2)|ovary(1)	3	Melanoma(164;0.059)					ACCGAGTCACGGACTCCTGCA	0.517											OREG0018400	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
FAM115A	9747	broad.mit.edu	37	7	143573696	143573696	+	Silent	SNP	C	C	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr7:143573696C>T	uc003wdo.1	-	2	139	c.6G>A	c.(4-6)GCG>GCA	p.A2A	FAM115A_uc011ktu.1_Intron|FAM115A_uc003wdp.1_Silent_p.A2A	NM_014719	NP_055534	Q9Y4C2	F115A_HUMAN	hypothetical protein LOC9747	2											0	Melanoma(164;0.0903)					CAGAGGGAGTCGCCATGGCTC	0.468												
OR2A14	135941	broad.mit.edu	37	7	143827119	143827119	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr7:143827119G>T	uc011kua.1	+	1	914	c.914G>T	c.(913-915)AGG>ATG	p.R305M		NM_001001659	NP_001001659	Q96R47	O2A14_HUMAN	olfactory receptor, family 2, subfamily A,	305	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	Melanoma(164;0.0783)					AGGGCACTGAGGAAGGAGAGG	0.488												
CUL1	8454	broad.mit.edu	37	7	148496368	148496368	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr7:148496368C>T	uc010lpg.2	+	21	2664	c.2138C>T	c.(2137-2139)GCG>GTG	p.A713V	CUL1_uc003wey.2_Missense_Mutation_p.A713V|CUL1_uc003wez.2_Missense_Mutation_p.A603V|CUL1_uc003wfa.2_Missense_Mutation_p.A374V	NM_003592	NP_003583	Q13616	CUL1_HUMAN	cullin 1	713					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)			GTTGCATAGGCGGCCATCGTG	0.483												
ZNF425	155054	broad.mit.edu	37	7	148801590	148801590	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr7:148801590C>T	uc003wfj.2	-	4	1446	c.1373G>A	c.(1372-1374)CGC>CAC	p.R458H		NM_001001661	NP_001001661	Q6IV72	ZN425_HUMAN	zinc finger protein 425	458	C2H2-type 9.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(2)|ovary(1)	3	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			CTGGTGGGCGCGCATGGCGTT	0.662												
KCNH2	3757	broad.mit.edu	37	7	150656686	150656686	+	Missense_Mutation	SNP	C	C	G			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr7:150656686C>G	uc003wic.2	-	3	459	c.446G>C	c.(445-447)GGC>GCC	p.G149A	KCNH2_uc011kux.1_Missense_Mutation_p.G53A|KCNH2_uc003wie.2_Missense_Mutation_p.G149A	NM_000238	NP_000229	Q12809	KCNH2_HUMAN	voltage-gated potassium channel, subfamily H,	149	Cytoplasmic (Potential).				blood circulation|muscle contraction|regulation of heart contraction|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|two-component sensor activity			skin(3)|ovary(1)	4	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Cisapride(DB00604)|Dofetilide(DB00204)|Halofantrine(DB01218)|Ibutilide(DB00308)|Pimozide(DB01100)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terfenadine(DB00342)|Verapamil(DB00661)	GGTGGGGGGGCCCCGGTGGTT	0.582												
ACCN3	9311	broad.mit.edu	37	7	150747697	150747697	+	Splice_Site	SNP	T	T	C			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr7:150747697T>C	uc003win.2	+	3	1181	c.813_splice	c.e3+2	p.Q271_splice	ACCN3_uc003wio.2_Splice_Site_p.Q271_splice|ACCN3_uc003wip.2_Splice_Site_p.Q271_splice|ACCN3_uc003wiq.2_Splice_Site	NM_004769	NP_004760	Q9UHC3	ACCN3_HUMAN	amiloride-sensitive cation channel 3 isoform a						sensory perception|signal transduction	cytoplasm|integral to plasma membrane	ligand-gated sodium channel activity			ovary(1)|central_nervous_system(1)	2			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CAGCAGCAGGTACCCTTCCGT	0.612												
GALNT11	63917	broad.mit.edu	37	7	151802408	151802408	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr7:151802408G>A	uc010lqg.1	+	5	895	c.665G>A	c.(664-666)CGT>CAT	p.R222H	GALNT11_uc011kvm.1_Missense_Mutation_p.R141H|GALNT11_uc003wku.2_Missense_Mutation_p.R222H|GALNT11_uc011kvn.1_RNA|GALNT11_uc003wkw.1_5'Flank	NM_022087	NP_071370	Q8NCW6	GLT11_HUMAN	N-acetylgalactosaminyltransferase 11	222	Lumenal (Potential).|Catalytic subdomain A.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding				0	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.214)	OV - Ovarian serous cystadenocarcinoma(82;0.00168)	UCEC - Uterine corpus endometrioid carcinoma (81;0.177)|BRCA - Breast invasive adenocarcinoma(188;0.0932)		AATACAAAGCGTGAGGGGTTG	0.433												
MLL3	58508	broad.mit.edu	37	7	151878749	151878749	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr7:151878749G>A	uc003wla.2	-	36	6415	c.6196C>T	c.(6196-6198)CGA>TGA	p.R2066*	MLL3_uc003wkz.2_Nonsense_Mutation_p.R1127*	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 3	2066	Pro-rich.				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	63	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		ACAGACAATCGCCTTGATGCC	0.453			N		medulloblastoma							
PAXIP1	22976	broad.mit.edu	37	7	154739611	154739611	+	Splice_Site	SNP	A	A	G			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr7:154739611A>G	uc003wlp.2	-	17	2965	c.2922_splice	c.e17+1	p.K974_splice	LOC100132707_uc003wlo.2_RNA|PAXIP1_uc003wlq.1_Splice_Site_p.K940_splice|PAXIP1_uc011kvs.1_Splice_Site_p.K938_splice	NM_007349	NP_031375	Q6ZW49	PAXI1_HUMAN	PAX interacting protein 1						DNA damage response, signal transduction by p53 class mediator|DNA recombination|DNA repair|histone H3-K4 methylation|positive regulation of histone acetylation|positive regulation of histone H3-K36 methylation|positive regulation of histone H3-K4 methylation|positive regulation of isotype switching|positive regulation of protein ubiquitination|positive regulation of transcription initiation from RNA polymerase II promoter|response to ionizing radiation|transcription, DNA-dependent	histone methyltransferase complex|nuclear matrix				lung(2)|ovary(1)|breast(1)|pancreas(1)	5	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0296)	UCEC - Uterine corpus endometrioid carcinoma (81;0.178)		CTTAAAGTGTACCTTAAAGAG	0.468												
ZNF596	169270	broad.mit.edu	37	8	196042	196042	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr8:196042G>T	uc003wot.2	+	6	1483	c.1195G>T	c.(1195-1197)GCC>TCC	p.A399S	ZNF596_uc003wou.2_Missense_Mutation_p.A298S|ZNF596_uc003wov.2_Missense_Mutation_p.A399S|ZNF596_uc003wow.2_Missense_Mutation_p.A399S	NM_173539	NP_775810	Q8TC21	ZN596_HUMAN	zinc finger protein 596	399	C2H2-type 8.				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)		ATGTGGGAAAGCCTTCACTGA	0.428												
CSMD1	64478	broad.mit.edu	37	8	3019715	3019715	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr8:3019715A>G	uc011kwk.1	-	38	6203	c.5813T>C	c.(5812-5814)CTC>CCC	p.L1938P	CSMD1_uc011kwj.1_Missense_Mutation_p.L1330P|CSMD1_uc003wqe.2_Missense_Mutation_p.L1094P|CSMD1_uc010lrg.2_Missense_Mutation_p.L6P	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1 precursor	1938	Sushi 11.|Extracellular (Potential).					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CTGGAAGGAGAGCACGTCGTT	0.512												
SGK223	157285	broad.mit.edu	37	8	8185550	8185550	+	Silent	SNP	G	G	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr8:8185550G>A	uc003wsh.3	-	4	2742	c.2742C>T	c.(2740-2742)CCC>CCT	p.P914P		NM_001080826	NP_001074295	Q86YV5	SG223_HUMAN	pragmin	914							ATP binding|non-membrane spanning protein tyrosine kinase activity				0						ATGAGGCGGAGGGGGCCCCTT	0.657												
MFHAS1	9258	broad.mit.edu	37	8	8748408	8748408	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr8:8748408C>T	uc003wsj.1	-	1	2724	c.2161G>A	c.(2161-2163)GCT>ACT	p.A721T		NM_004225	NP_004216	Q9Y4C4	MFHA1_HUMAN	malignant fibrous histiocytoma amplified	721											0		Hepatocellular(245;0.217)		COAD - Colon adenocarcinoma(149;0.124)		TCCTTGAGAGCCGGACTGTCC	0.587												
ERI1	90459	broad.mit.edu	37	8	8869198	8869198	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr8:8869198C>T	uc011kwu.1	+	3	694	c.434C>T	c.(433-435)CCT>CTT	p.P145L	ERI1_uc003wsk.2_Missense_Mutation_p.P145L	NM_153332	NP_699163	Q8IV48	ERI1_HUMAN	three prime histone mRNA exonuclease 1	145	Exonuclease.				gene silencing by RNA|rRNA 3'-end processing	cytoplasm|histone pre-mRNA 3'end processing complex|nucleolus	3'-5' exonuclease activity|histone pre-mRNA stem-loop binding|metal ion binding|ribosome binding|rRNA binding				0					Adenosine monophosphate(DB00131)	GGAAACCCACCTGAGTTTGTA	0.323												
TNKS	8658	broad.mit.edu	37	8	9634228	9634228	+	Silent	SNP	C	C	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr8:9634228C>T	uc003wss.2	+	27	3971	c.3966C>T	c.(3964-3966)GCC>GCT	p.A1322A	TNKS_uc011kww.1_Silent_p.A1085A	NM_003747	NP_003738	O95271	TNKS1_HUMAN	tankyrase, TRF1-interacting ankyrin-related	1322					mitotic spindle organization|mRNA transport|negative regulation of DNA binding|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of telomere maintenance via telomerase|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein poly-ADP-ribosylation|protein polyubiquitination|protein transport|spindle assembly|transmembrane transport|Wnt receptor signaling pathway	chromosome, centromeric region|Golgi membrane|microsome|nuclear chromosome, telomeric region|nuclear membrane|nuclear pore|pericentriolar material	NAD+ ADP-ribosyltransferase activity|protein binding|zinc ion binding			lung(4)|ovary(2)|kidney(1)	7				COAD - Colon adenocarcinoma(149;0.0467)		CCGCAACAGCCGCAGAGCAGA	0.468												
MSRA	4482	broad.mit.edu	37	8	10159084	10159084	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr8:10159084G>T	uc003wsx.2	+	4	569	c.372G>T	c.(370-372)CAG>CAT	p.Q124H	MSRA_uc011kwx.1_Missense_Mutation_p.Q84H|MSRA_uc011kwy.1_Missense_Mutation_p.Q81H|MSRA_uc003wsz.2_Missense_Mutation_p.Q81H|MSRA_uc003wsy.2_Missense_Mutation_p.Q58H	NM_012331	NP_036463	Q9UJ68	MSRA_HUMAN	methionine sulfoxide reductase A isoform a	124					methionine metabolic process|protein modification process|response to oxidative stress	mitochondrion|nucleus	peptide-methionine-(S)-S-oxide reductase activity				0		Myeloproliferative disorder(644;0.178)			L-Methionine(DB00134)	TGGTGTACCAGCCAGAACACA	0.423												
RP1L1	94137	broad.mit.edu	37	8	10468221	10468221	+	Silent	SNP	C	C	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr8:10468221C>T	uc003wtc.2	-	4	3616	c.3387G>A	c.(3385-3387)GAG>GAA	p.E1129E		NM_178857	NP_849188	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	1129					intracellular signal transduction					ovary(4)|breast(3)|central_nervous_system(1)	8				COAD - Colon adenocarcinoma(149;0.0811)		CAAGGTCTTCCTCAAATAACT	0.602												
GATA4	2626	broad.mit.edu	37	8	11615818	11615818	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr8:11615818C>T	uc003wuc.2	+	7	1717	c.1163C>T	c.(1162-1164)GCG>GTG	p.A388V	GATA4_uc003wub.1_Missense_Mutation_p.A182V|GATA4_uc011kxc.1_Missense_Mutation_p.A389V|uc003wud.1_5'Flank	NM_002052	NP_002043	P43694	GATA4_HUMAN	GATA binding protein 4	388					atrial septum primum morphogenesis|atrial septum secundum morphogenesis|blood coagulation|cardiac right ventricle morphogenesis|cell-cell signaling|embryonic foregut morphogenesis|embryonic heart tube anterior/posterior pattern formation|endocardial cushion development|endoderm development|heart looping|intestinal epithelial cell differentiation|male gonad development|positive regulation of angiogenesis|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation vascular endothelial growth factor production|response to drug|transcription from RNA polymerase II promoter|ventricular septum development	nucleoplasm	activating transcription factor binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding			central_nervous_system(1)	1	all_epithelial(15;0.0839)		STAD - Stomach adenocarcinoma(15;0.00225)	COAD - Colon adenocarcinoma(149;0.199)		TCAGTCAGTGCGATGTCTGGC	0.617												
DLC1	10395	broad.mit.edu	37	8	13357399	13357399	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr8:13357399A>G	uc003wwm.2	-	2	626	c.182T>C	c.(181-183)CTA>CCA	p.L61P	DLC1_uc003wwn.2_Missense_Mutation_p.L61P|DLC1_uc011kxy.1_Missense_Mutation_p.L61P	NM_182643	NP_872584	Q96QB1	RHG07_HUMAN	deleted in liver cancer 1 isoform 1	61					actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding			ovary(3)|pancreas(2)|lung(1)|kidney(1)	7						GCAGTCAGGTAGTGAAACACA	0.458												
SLC7A2	6542	broad.mit.edu	37	8	17401110	17401110	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr8:17401110G>A	uc011kyc.1	+	2	431	c.262G>A	c.(262-264)GAA>AAA	p.E88K	SLC7A2_uc011kyd.1_Missense_Mutation_p.E128K|SLC7A2_uc011kye.1_Missense_Mutation_p.E128K|SLC7A2_uc011kyf.1_Missense_Mutation_p.E88K	NM_001008539	NP_001008539	P52569	CTR2_HUMAN	solute carrier family 7, member 2 isoform 2	88	Cytoplasmic (Potential).				cellular amino acid metabolic process|ion transport	cytoplasm|integral to plasma membrane|membrane fraction	basic amino acid transmembrane transporter activity			ovary(2)|skin(1)	3				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	L-Lysine(DB00123)|L-Ornithine(DB00129)	CTGCTATGCCGAATTTGGGGC	0.587												
KIAA1967	57805	broad.mit.edu	37	8	22471699	22471699	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr8:22471699T>G	uc003xch.2	+	9	936	c.799T>G	c.(799-801)TTC>GTC	p.F267V	KIAA1967_uc003xci.2_Missense_Mutation_p.F267V|KIAA1967_uc003xcj.1_5'UTR	NM_199205	NP_954675	Q8N163	K1967_HUMAN	p30 DBC protein	267					apoptosis|positive regulation of apoptosis	mitochondrial matrix|nucleus	enzyme binding|enzyme inhibitor activity			ovary(1)|central_nervous_system(1)|skin(1)	3		Prostate(55;0.0421)|Breast(100;0.102)|all_epithelial(46;0.142)		BRCA - Breast invasive adenocarcinoma(99;0.00593)|Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064)		GCTATCAGCCTTCCCCCTGAG	0.582												
KIAA1967	57805	broad.mit.edu	37	8	22473240	22473240	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr8:22473240G>A	uc003xch.2	+	13	1560	c.1423G>A	c.(1423-1425)GCA>ACA	p.A475T	KIAA1967_uc003xci.2_Missense_Mutation_p.A475T|KIAA1967_uc003xcj.1_Missense_Mutation_p.A144T	NM_199205	NP_954675	Q8N163	K1967_HUMAN	p30 DBC protein	475					apoptosis|positive regulation of apoptosis	mitochondrial matrix|nucleus	enzyme binding|enzyme inhibitor activity			ovary(1)|central_nervous_system(1)|skin(1)	3		Prostate(55;0.0421)|Breast(100;0.102)|all_epithelial(46;0.142)		BRCA - Breast invasive adenocarcinoma(99;0.00593)|Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064)		GGAGCAAGCAGCAGACACTTC	0.572												
EGR3	1960	broad.mit.edu	37	8	22548748	22548748	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr8:22548748C>A	uc003xcm.1	-	2	760	c.402G>T	c.(400-402)CAG>CAT	p.Q134H	EGR3_uc011kzn.1_Missense_Mutation_p.Q96H|EGR3_uc011kzo.1_Missense_Mutation_p.Q80H	NM_004430	NP_004421	Q06889	EGR3_HUMAN	early growth response 3	134					circadian rhythm|muscle organ development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		Prostate(55;0.0421)|Breast(100;0.102)		Colorectal(74;0.0145)|BRCA - Breast invasive adenocarcinoma(99;0.053)|COAD - Colon adenocarcinoma(73;0.0608)		CCACGTCACCCTGCGGTGGCT	0.662												
RHOBTB2	23221	broad.mit.edu	37	8	22868168	22868168	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr8:22868168C>T	uc003xcq.2	+	7	2275	c.1738C>T	c.(1738-1740)CGC>TGC	p.R580C	RHOBTB2_uc003xcp.2_Missense_Mutation_p.R602C|RHOBTB2_uc011kzp.1_Missense_Mutation_p.R587C|uc003xcr.2_Intron	NM_015178	NP_055993	Q9BYZ6	RHBT2_HUMAN	Rho-related BTB domain containing 2 isoform 3	580					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding			ovary(1)|lung(1)	2		Prostate(55;0.0513)|Breast(100;0.214)		Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064)		TCTAGCCAACCGCCTCTGCCT	0.597												
LOXL2	4017	broad.mit.edu	37	8	23191084	23191084	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr8:23191084T>C	uc003xdh.1	-	5	1135	c.796A>G	c.(796-798)ACC>GCC	p.T266A	uc003xdj.2_5'Flank|uc003xdi.2_5'Flank	NM_002318	NP_002309	Q9Y4K0	LOXL2_HUMAN	lysyl oxidase-like 2 precursor	266	SRCR 2.				aging|cell adhesion|protein modification process	extracellular space|membrane	copper ion binding|electron carrier activity|oxidoreductase activity, acting on the CH-NH2 group of donors, oxygen as acceptor|scavenger receptor activity			breast(2)|ovary(1)	3		Prostate(55;0.0453)|Breast(100;0.143)		Colorectal(74;0.0288)|COAD - Colon adenocarcinoma(73;0.096)		TCTGTGCCGGTGCAGTCCATG	0.617												
NEFL	4747	broad.mit.edu	37	8	24813138	24813138	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr8:24813138C>T	uc003xee.2	-	1	994	c.892G>A	c.(892-894)GTG>ATG	p.V298M		NM_006158	NP_006149	P07196	NFL_HUMAN	neurofilament, light polypeptide 68kDa	298	Rod.|Coil 2B.				anterograde axon cargo transport|axon transport of mitochondrion|neurofilament bundle assembly|retrograde axon cargo transport|synaptic transmission	cytosol|neurofilament	identical protein binding|protein C-terminus binding|structural constituent of cytoskeleton			ovary(1)|central_nervous_system(1)	2		Ovarian(32;0.00965)|Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		GCGGCGCGCACGGCGTCGGTG	0.617												
ADRA1A	148	broad.mit.edu	37	8	26721708	26721708	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr8:26721708C>A	uc003xfh.1	-	1	1215	c.779G>T	c.(778-780)AGG>ATG	p.R260M	ADRA1A_uc003xfc.1_Missense_Mutation_p.R260M|ADRA1A_uc010lul.1_Missense_Mutation_p.R260M|ADRA1A_uc003xfd.1_RNA|ADRA1A_uc003xfe.1_Missense_Mutation_p.R260M|ADRA1A_uc010lum.1_Missense_Mutation_p.R260M|ADRA1A_uc003xff.1_RNA|ADRA1A_uc003xfg.1_Missense_Mutation_p.R260M	NM_000680	NP_000671	P35348	ADA1A_HUMAN	alpha-1A-adrenergic receptor isoform 1	260	Cytoplasmic (By similarity).				activation of phospholipase C activity|aging|apoptosis|calcium ion transport into cytosol|cell-cell signaling|intracellular protein kinase cascade|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of synaptic transmission, GABAergic|positive regulation of action potential|positive regulation of cardiac muscle contraction|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase C signaling cascade|positive regulation of vasoconstriction|response to drug|response to hormone stimulus|response to stress|smooth muscle contraction	integral to plasma membrane	alpha1-adrenergic receptor activity			breast(2)|ovary(1)|lung(1)|skin(1)	5		all_cancers(63;0.122)|Ovarian(32;2.61e-05)|all_epithelial(46;0.118)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;4.92e-10)|Colorectal(74;0.0132)|READ - Rectum adenocarcinoma(644;0.115)	Alfuzosin(DB00346)|Amiodarone(DB01118)|Amphetamine(DB00182)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Carvedilol(DB01136)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Epinastine(DB00751)|Epinephrine(DB00668)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Maprotiline(DB00934)|Mephentermine(DB01365)|Metaraminol(DB00610)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Midodrine(DB00211)|Nefazodone(DB01149)|Nicergoline(DB00699)|Nilutamide(DB00665)|Norepinephrine(DB00368)|Norgestrel(DB00506)|Oxymetazoline(DB00935)|Perphenazine(DB00850)|Phendimetrazine(DB01579)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Prazosin(DB00457)|Promazine(DB00420)|Promethazine(DB01069)|Propericiazine(DB01608)|Propiomazine(DB00777)|Pseudoephedrine(DB00852)|Risperidone(DB00734)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)|Thioridazine(DB00679)|Tolazoline(DB00797)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Ziprasidone(DB00246)	CTTGAGGAGCCTCACTGAGAA	0.607												
STMN4	81551	broad.mit.edu	37	8	27101235	27101235	+	Silent	SNP	G	G	T	rs138378493	byFrequency	TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr8:27101235G>T	uc003xfk.2	-	2	120	c.6C>A	c.(4-6)ACC>ACA	p.T2T	STMN4_uc003xfj.2_Silent_p.T2T|STMN4_uc011lai.1_Silent_p.T2T|STMN4_uc011laj.1_Intron|STMN4_uc011lak.1_Silent_p.T2T|STMN4_uc010luo.2_Silent_p.T2T			Q9H169	STMN4_HUMAN	RecName: Full=Stathmin-4; AltName: Full=Stathmin-like protein B3;          Short=RB3;	2					intracellular signal transduction					large_intestine(1)|pancreas(1)	2		Ovarian(32;0.00167)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0214)|Epithelial(17;9.82e-10)|Colorectal(74;0.142)		TACCAGCAAGGGTCATGTTTC	0.532												
PTK2B	2185	broad.mit.edu	37	8	27296915	27296915	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr8:27296915G>A	uc003xfn.1	+	25	2642	c.1834G>A	c.(1834-1836)GCC>ACC	p.A612T	PTK2B_uc003xfo.1_Missense_Mutation_p.A612T|PTK2B_uc003xfp.1_Missense_Mutation_p.A612T|PTK2B_uc003xfq.1_Missense_Mutation_p.A612T|PTK2B_uc003xfr.1_Missense_Mutation_p.A358T	NM_173174	NP_775266	Q14289	FAK2_HUMAN	PTK2B protein tyrosine kinase 2 beta isoform a	612	Protein kinase.				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)		CTGGATGTTCGGTGAGTGCTG	0.562												
C8orf80	389643	broad.mit.edu	37	8	27922180	27922180	+	Silent	SNP	G	G	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr8:27922180G>A	uc003xgm.3	-	7	923	c.780C>T	c.(778-780)GCC>GCT	p.A260A		NM_001010906	NP_001010906	Q68CJ6	SLIP_HUMAN	speckled-like pattern in the germinal center	260						nucleus	GTP binding|GTPase activity			ovary(1)|central_nervous_system(1)	2		Ovarian(32;0.0218)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|KIRC - Kidney renal clear cell carcinoma(542;0.126)|Kidney(114;0.15)|Colorectal(74;0.181)		GCATCTCAGCGGCCTCTCCAT	0.562												
C8orf80	389643	broad.mit.edu	37	8	27925085	27925085	+	Silent	SNP	C	C	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr8:27925085C>T	uc003xgm.3	-	6	800	c.657G>A	c.(655-657)GCG>GCA	p.A219A		NM_001010906	NP_001010906	Q68CJ6	SLIP_HUMAN	speckled-like pattern in the germinal center	219						nucleus	GTP binding|GTPase activity			ovary(1)|central_nervous_system(1)	2		Ovarian(32;0.0218)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|KIRC - Kidney renal clear cell carcinoma(542;0.126)|Kidney(114;0.15)|Colorectal(74;0.181)		TTTTGGGCTTCGCCCTCAGTA	0.502												
KIF13B	23303	broad.mit.edu	37	8	29025013	29025013	+	Silent	SNP	C	C	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr8:29025013C>T	uc003xhh.3	-	11	1094	c.1035G>A	c.(1033-1035)CGG>CGA	p.R345R	KIF13B_uc003xhj.2_Silent_p.R242R|KIF13B_uc010lvf.1_Silent_p.R281R	NM_015254	NP_056069	Q9NQT8	KI13B_HUMAN	kinesin family member 13B	345					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)		GATCTGCATACCGCAGAGTTG	0.522												
NRG1	3084	broad.mit.edu	37	8	32472059	32472059	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr8:32472059C>T	uc003xiv.2	+	4	945	c.428C>T	c.(427-429)ACT>ATT	p.T143I	NRG1_uc003xip.2_Intron|NRG1_uc003xir.2_Missense_Mutation_p.T143I|NRG1_uc010lvl.2_Missense_Mutation_p.T143I|NRG1_uc010lvm.2_Intron|NRG1_uc010lvn.2_Intron|NRG1_uc003xis.2_Missense_Mutation_p.T143I|NRG1_uc011lbf.1_Missense_Mutation_p.T143I|NRG1_uc010lvo.2_Missense_Mutation_p.T143I|NRG1_uc003xiu.2_Missense_Mutation_p.T143I|NRG1_uc003xiw.2_Missense_Mutation_p.T143I|NRG1_uc003xit.2_Missense_Mutation_p.T143I|NRG1_uc010lvr.2_5'UTR|NRG1_uc010lvs.2_Intron|NRG1_uc010lvp.2_Missense_Mutation_p.T109I|NRG1_uc010lvq.2_Intron|NRG1_uc003xix.2_Missense_Mutation_p.T33I	NM_013964	NP_039258	Q02297	NRG1_HUMAN	neuregulin 1 isoform HRG-alpha	143	Extracellular (Potential).				activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|Notch signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing|wound healing	apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane	cytokine activity|ErbB-3 class receptor binding|growth factor activity|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity				0		Breast(100;0.203)		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)		CCAGCCTCAACTGAAGGAGCA	0.438												
PROSC	11212	broad.mit.edu	37	8	37632909	37632909	+	Silent	SNP	C	C	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr8:37632909C>T	uc003xkh.2	+	6	584	c.507C>T	c.(505-507)AAC>AAT	p.N169N		NM_007198	NP_009129	O94903	PROSC_HUMAN	proline synthetase co-transcribed homolog	169							pyridoxal phosphate binding			central_nervous_system(1)	1		Lung NSC(58;0.174)	BRCA - Breast invasive adenocarcinoma(5;6.14e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)		L-Proline(DB00172)|Pyridoxal Phosphate(DB00114)	AGCACATAAACGCCAAGTGTC	0.483												
ADAM9	8754	broad.mit.edu	37	8	38912036	38912036	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr8:38912036T>C	uc003xmr.2	+	13	1417	c.1339T>C	c.(1339-1341)TGT>CGT	p.C447R	ADAM9_uc011lcf.1_RNA|ADAM9_uc011lcg.1_RNA|ADAM9_uc010lwr.2_RNA|ADAM9_uc003xms.2_5'Flank	NM_003816	NP_003807	Q13443	ADAM9_HUMAN	ADAM metallopeptidase domain 9 isoform 1	447	Extracellular (Potential).|Disintegrin.				activation of MAPKK activity|cell-cell adhesion mediated by integrin|cell-matrix adhesion|keratinocyte differentiation|monocyte activation|PMA-inducible membrane protein ectodomain proteolysis|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell adhesion mediated by integrin|positive regulation of keratinocyte migration|positive regulation of macrophage fusion|positive regulation of membrane protein ectodomain proteolysis|positive regulation of protein secretion|response to calcium ion|response to glucocorticoid stimulus|response to hydrogen peroxide|response to manganese ion|response to tumor necrosis factor|transforming growth factor beta receptor signaling pathway	extracellular space|extracellular space|integral to membrane|intrinsic to external side of plasma membrane	collagen binding|integrin binding|laminin binding|metalloendopeptidase activity|protein kinase C binding|SH3 domain binding|zinc ion binding			ovary(1)|central_nervous_system(1)	2		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.0153)	LUSC - Lung squamous cell carcinoma(45;2.74e-07)			AGGAAGTACCTGTAAGCTTAA	0.343												
IDO2	169355	broad.mit.edu	37	8	39872860	39872860	+	Silent	SNP	C	C	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr8:39872860C>T	uc010lwy.1	+	11	1244	c.1002C>T	c.(1000-1002)ATC>ATT	p.I334I	IDO2_uc003xno.1_RNA|IDO2_uc010lwz.1_Silent_p.I75I|IDO2_uc003xnp.1_Silent_p.I75I	NM_194294	NP_919270	Q6ZQW0	I23O2_HUMAN	indoleamine-pyrrole 2,3 dioxygenase-like 1	321					tryptophan catabolic process to kynurenine	cytosol	heme binding|indoleamine 2,3-dioxygenase activity|tryptophan 2,3-dioxygenase activity			ovary(2)	2						GGGACTACATCCTGTCATCTG	0.507												
MYST3	7994	broad.mit.edu	37	8	41798536	41798536	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr8:41798536G>T	uc010lxb.2	-	16	3407	c.2863C>A	c.(2863-2865)CCT>ACT	p.P955T	MYST3_uc010lxc.2_Missense_Mutation_p.P955T|MYST3_uc003xon.3_Missense_Mutation_p.P955T	NM_001099412	NP_001092882	Q92794	MYST3_HUMAN	MYST histone acetyltransferase (monocytic	955					histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding			ovary(4)|pancreas(1)|central_nervous_system(1)|skin(1)	7	all_epithelial(6;1.12e-27)|all_lung(13;3.94e-12)|Lung NSC(13;6.54e-11)|Ovarian(28;0.00744)|Prostate(17;0.0119)|Colorectal(14;0.0221)|Lung SC(25;0.211)	all_lung(54;0.000294)|Lung NSC(58;0.00105)|Hepatocellular(245;0.0524)|Esophageal squamous(32;0.0954)|Renal(179;0.0983)	Epithelial(1;2.82e-19)|all cancers(1;1.15e-16)|BRCA - Breast invasive adenocarcinoma(8;9.17e-11)|OV - Ovarian serous cystadenocarcinoma(14;9.4e-05)|Colorectal(10;0.000728)|Lung(22;0.00153)|LUSC - Lung squamous cell carcinoma(45;0.00741)|COAD - Colon adenocarcinoma(11;0.0171)			AGAGCCTCAGGGCTTTTCTTG	0.587												
POTEA	340441	broad.mit.edu	37	8	43173622	43173622	+	Silent	SNP	T	T	C			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr8:43173622T>C	uc003xpz.1	+	9	1087	c.1044T>C	c.(1042-1044)CAT>CAC	p.H348H	POTEA_uc003xqa.1_Silent_p.H302H	NM_001005365	NP_001005365	Q6S8J7	POTEA_HUMAN	POTE ankyrin domain family, member A isoform 2	348										ovary(1)	1						TGCAGAAGCATGGAAGTAATA	0.358												
PRKDC	5591	broad.mit.edu	37	8	48809839	48809839	+	Silent	SNP	G	G	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr8:48809839G>A	uc003xqi.2	-	30	3537	c.3480C>T	c.(3478-3480)TCC>TCT	p.S1160S	PRKDC_uc003xqj.2_Silent_p.S1160S|PRKDC_uc011ldh.1_Intron	NM_006904	NP_008835	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic	1160					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)				ACAATGATGCGGAAGGTGGAA	0.428								NHEJ				
MCM4	4173	broad.mit.edu	37	8	48888298	48888298	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr8:48888298C>T	uc003xqk.1	+	16	2484	c.2389C>T	c.(2389-2391)CGG>TGG	p.R797W	MCM4_uc003xql.1_Missense_Mutation_p.R797W|MCM4_uc011ldi.1_Missense_Mutation_p.R784W	NM_182746	NP_877423	P33991	MCM4_HUMAN	minichromosome maintenance complex component 4	797					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)				CTCTCGTAAACGGAAAGAAGA	0.328												
ST18	9705	broad.mit.edu	37	8	53055565	53055565	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr8:53055565T>A	uc003xqz.2	-	12	2249	c.2093A>T	c.(2092-2094)AAG>ATG	p.K698M	ST18_uc011ldq.1_Missense_Mutation_p.K345M|ST18_uc011ldr.1_Missense_Mutation_p.K663M|ST18_uc011lds.1_Missense_Mutation_p.K603M|ST18_uc003xra.2_Missense_Mutation_p.K698M	NM_014682	NP_055497	O60284	ST18_HUMAN	suppression of tumorigenicity 18	698						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)				TCCAGGAAACTTTTTTTCCTC	0.408												
FAM110B	90362	broad.mit.edu	37	8	59059757	59059757	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr8:59059757A>G	uc003xtj.1	+	5	1848	c.968A>G	c.(967-969)GAC>GGC	p.D323G		NM_147189	NP_671722	Q8TC76	F110B_HUMAN	hypothetical protein LOC90362	323						microtubule organizing center|mitochondrion|nucleus				large_intestine(1)	1		all_epithelial(80;0.025)|all_lung(136;0.0274)|Lung NSC(129;0.0355)				CAGTCTCAGGACAGTAACAGT	0.448												
ARFGEF1	10565	broad.mit.edu	37	8	68189648	68189648	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr8:68189648T>C	uc003xxo.1	-	8	1462	c.1072A>G	c.(1072-1074)ATT>GTT	p.I358V		NM_006421	NP_006412	Q9Y6D6	BIG1_HUMAN	brefeldin A-inhibited guanine	358					exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding			ovary(4)|upper_aerodigestive_tract(1)|large_intestine(1)|lung(1)|kidney(1)	8	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			ATAGTTCCAATGTTGCCATCT	0.358												
SLCO5A1	81796	broad.mit.edu	37	8	70744031	70744031	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr8:70744031A>G	uc003xyl.2	-	2	1585	c.878T>C	c.(877-879)GTC>GCC	p.V293A	SLCO5A1_uc010lzb.2_Missense_Mutation_p.V293A|SLCO5A1_uc011lfa.1_RNA|SLCO5A1_uc003xyk.2_Missense_Mutation_p.V293A|SLCO5A1_uc010lzc.2_Missense_Mutation_p.V293A	NM_030958	NP_112220	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family,	293	Cytoplasmic (Potential).					integral to membrane|plasma membrane	transporter activity			ovary(3)|upper_aerodigestive_tract(1)	4	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			TTCTTTCTTGACATTGTCATC	0.413												
ZFHX4	79776	broad.mit.edu	37	8	77617605	77617605	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr8:77617605T>C	uc003yav.2	+	2	1669	c.1282T>C	c.(1282-1284)TCA>CCA	p.S428P	ZFHX4_uc003yat.1_Missense_Mutation_p.S428P|ZFHX4_uc003yau.1_Missense_Mutation_p.S428P|ZFHX4_uc003yaw.1_Missense_Mutation_p.S428P	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	zinc finger homeodomain 4	428						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)			CCTCAGCCACTCATCGTCTGA	0.507										HNSCC(33;0.089)		
FAM164A	51101	broad.mit.edu	37	8	79590866	79590866	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr8:79590866G>T	uc003ybd.2	+	3	264	c.162G>T	c.(160-162)CAG>CAT	p.Q54H		NM_016010	NP_057094	Q96GY0	F164A_HUMAN	hypothetical protein LOC51101	54										ovary(1)	1						CAAGCAGACAGAGAGCTGAAG	0.363												
PAG1	55824	broad.mit.edu	37	8	81897170	81897170	+	Silent	SNP	A	A	G			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr8:81897170A>G	uc003ybz.2	-	7	1428	c.717T>C	c.(715-717)AGT>AGC	p.S239S		NM_018440	NP_060910	Q9NWQ8	PAG1_HUMAN	phosphoprotein associated with glycosphingolipid	239	Cytoplasmic (Potential).				epidermal growth factor receptor signaling pathway|intracellular signal transduction|T cell receptor signaling pathway	integral to membrane|intracellular|membrane raft|plasma membrane	SH2 domain binding|SH3/SH2 adaptor activity				0	Lung NSC(7;5.76e-06)|all_lung(9;2e-05)		BRCA - Breast invasive adenocarcinoma(6;0.0567)|Epithelial(68;0.0634)|all cancers(69;0.197)			CTACATTAACACTTTGACGAC	0.483												
ESRP1	54845	broad.mit.edu	37	8	95680236	95680236	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr8:95680236C>T	uc003ygq.3	+	10	1174	c.991C>T	c.(991-993)CGG>TGG	p.R331W	ESRP1_uc003ygr.3_Missense_Mutation_p.R331W|ESRP1_uc003ygs.3_Missense_Mutation_p.R331W|ESRP1_uc003ygt.3_Missense_Mutation_p.R331W|ESRP1_uc003ygu.3_Missense_Mutation_p.R331W|ESRP1_uc003ygv.2_Missense_Mutation_p.R171W|ESRP1_uc003ygw.2_Missense_Mutation_p.R171W	NM_017697	NP_060167	Q6NXG1	ESRP1_HUMAN	RNA binding motif protein 35A isoform 1	331	RRM 2.				mRNA processing|regulation of RNA splicing|RNA splicing	nucleus|plasma membrane	mRNA binding|nucleotide binding		ESRP1/RAF1(4)	prostate(4)	4						TGTCCGCATGCGGGGGCTCCC	0.488												
LAPTM4B	55353	broad.mit.edu	37	8	98827611	98827611	+	Silent	SNP	T	T	C			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr8:98827611T>C	uc003yia.2	+	3	696	c.540T>C	c.(538-540)GCT>GCC	p.A180A	LAPTM4B_uc010mbg.2_Intron	NM_018407	NP_060877	Q86VI4	LAP4B_HUMAN	lysosomal associated transmembrane protein 4	233	Helical; (Potential).				transport	endomembrane system|integral to membrane	protein binding			skin(1)	1	Breast(36;1.59e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.149)			GTGCTATGGCTACTTACGGAG	0.413												
MATN2	4147	broad.mit.edu	37	8	98943434	98943434	+	Silent	SNP	G	G	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr8:98943434G>A	uc003yic.2	+	3	627	c.396G>A	c.(394-396)ACG>ACA	p.T132T	MATN2_uc003yib.1_Silent_p.T132T|MATN2_uc010mbh.1_Silent_p.T132T|MATN2_uc003yid.2_Silent_p.T132T|MATN2_uc003yie.1_Silent_p.T132T|MATN2_uc010mbi.1_Silent_p.T6T	NM_002380	NP_002371	O00339	MATN2_HUMAN	matrilin 2 isoform a precursor	132	VWFA 1.					proteinaceous extracellular matrix	calcium ion binding			ovary(2)	2	Breast(36;1.43e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.244)			ATCTGTCCACGGGCACCATGA	0.572												
VPS13B	157680	broad.mit.edu	37	8	100844800	100844800	+	Silent	SNP	A	A	G			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr8:100844800A>G	uc003yiv.2	+	52	9720	c.9609A>G	c.(9607-9609)CCA>CCG	p.P3203P	VPS13B_uc003yiw.2_Silent_p.P3178P	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13B isoform 5	3203					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)			GGAGCCTGCCAGCTATAGTTA	0.488												
SPAG1	6674	broad.mit.edu	37	8	101243518	101243518	+	Splice_Site	SNP	C	C	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr8:101243518C>T	uc003yjh.1	+	15	2074	c.1988_splice	c.e15+2	p.R663_splice	SPAG1_uc003yji.1_Splice_Site_p.R663_splice	NM_172218	NP_757367	Q07617	SPAG1_HUMAN	sperm associated antigen 1						single fertilization	cytoplasm	GTP binding|hydrolase activity			ovary(2)|central_nervous_system(1)	3	all_cancers(14;2.35e-05)|all_epithelial(15;5.2e-08)|Lung NSC(17;0.000283)|all_lung(17;0.000823)	Breast(495;0.195)	Epithelial(11;1.12e-09)|all cancers(13;1.26e-07)|OV - Ovarian serous cystadenocarcinoma(57;4.37e-05)|STAD - Stomach adenocarcinoma(118;0.0525)	KIRC - Kidney renal clear cell carcinoma(542;0.00178)|READ - Rectum adenocarcinoma(644;0.236)		TACAAACAGGCAAGTTCTTTG	0.219												
UBR5	51366	broad.mit.edu	37	8	103297968	103297968	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr8:103297968G>A	uc003ykr.1	-	39	5290	c.5257C>T	c.(5257-5259)CGC>TGC	p.R1753C	UBR5_uc003yks.1_Missense_Mutation_p.R1753C	NM_015902	NP_056986	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin	1753					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)			CCACTCCGGCGTAAGTTTGAA	0.453												
NUDCD1	84955	broad.mit.edu	37	8	110255326	110255326	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr8:110255326G>T	uc003ynb.3	-	10	1775	c.1664C>A	c.(1663-1665)CCT>CAT	p.P555H	NUDCD1_uc003yna.2_Missense_Mutation_p.P526H|NUDCD1_uc010mcl.2_Missense_Mutation_p.P468H	NM_032869	NP_116258	Q96RS6	NUDC1_HUMAN	NudC domain containing 1 isoform 1	555										ovary(1)|breast(1)	2	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;1.56e-12)			TCCTAAAATAGGATCATTGGT	0.368												
CSMD3	114788	broad.mit.edu	37	8	113326150	113326150	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr8:113326150G>A	uc003ynu.2	-	49	7840	c.7681C>T	c.(7681-7683)CGG>TGG	p.R2561W	CSMD3_uc003yns.2_Missense_Mutation_p.R1763W|CSMD3_uc003ynt.2_Missense_Mutation_p.R2521W|CSMD3_uc011lhx.1_Missense_Mutation_p.R2457W|CSMD3_uc003ynw.1_Missense_Mutation_p.R272W	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	2561	CUB 14.|Extracellular (Potential).					integral to membrane|plasma membrane				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						TATCTTATCCGGAAGCCTTTT	0.303										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)		
CSMD3	114788	broad.mit.edu	37	8	113988066	113988066	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr8:113988066C>T	uc003ynu.2	-	7	1501	c.1342G>A	c.(1342-1344)GTG>ATG	p.V448M	CSMD3_uc003ynt.2_Missense_Mutation_p.V408M|CSMD3_uc011lhx.1_Intron	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	448	Extracellular (Potential).					integral to membrane|plasma membrane				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						CATCCAATACCTCTATGAGTA	0.383										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)		
CSMD3	114788	broad.mit.edu	37	8	114448937	114448937	+	Silent	SNP	G	G	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr8:114448937G>A	uc003ynu.2	-	1	306	c.147C>T	c.(145-147)CTC>CTT	p.L49L	CSMD3_uc011lhx.1_Silent_p.L49L|CSMD3_uc010mcx.1_Silent_p.L49L|CSMD3_uc003ynx.3_Silent_p.L49L	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	49	Helical; (Potential).					integral to membrane|plasma membrane				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						ATAAAAAGACGAGGTTCCAAA	0.507										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)		
EXT1	2131	broad.mit.edu	37	8	118819559	118819559	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr8:118819559C>T	uc003yok.1	-	9	2553	c.1780G>A	c.(1780-1782)GCG>ACG	p.A594T		NM_000127	NP_000118	Q16394	EXT1_HUMAN	exostosin 1	594	Lumenal (Potential).				glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction|skeletal system development	Golgi membrane|integral to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity			ovary(2)|lung(2)	4	all_cancers(13;2.36e-26)|Lung NSC(37;5.02e-07)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.012)			TGGCTGCGCGCGGGGTACCCC	0.522			Mis|N|F|S			exostoses|osteosarcoma			Hereditary_Multiple_Exostoses|Langer-Giedion_syndrome			
ENPP2	5168	broad.mit.edu	37	8	120596014	120596014	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr8:120596014T>C	uc003yot.1	-	17	1572	c.1486A>G	c.(1486-1488)AAG>GAG	p.K496E	ENPP2_uc011lic.1_Missense_Mutation_p.K13E|ENPP2_uc003yor.1_Missense_Mutation_p.K135E|ENPP2_uc003yos.1_Missense_Mutation_p.K548E|ENPP2_uc010mdd.1_Missense_Mutation_p.K496E	NM_001040092	NP_001035181	Q13822	ENPP2_HUMAN	autotaxin isoform 2 preproprotein	496					cellular component movement|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|phosphate metabolic process|phosphatidylcholine catabolic process|regulation of cell migration	extracellular space|integral to plasma membrane	alkylglycerophosphoethanolamine phosphodiesterase activity|calcium ion binding|lysophospholipase activity|nucleic acid binding|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity|transcription factor binding|zinc ion binding			ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)|large_intestine(1)|kidney(1)	7	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			GTCTTGTACTTAAATGTTGAG	0.318												
DSCC1	79075	broad.mit.edu	37	8	120854138	120854138	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr8:120854138G>A	uc003yov.2	-	7	955	c.820C>T	c.(820-822)CGA>TGA	p.R274*		NM_024094	NP_076999	Q9BVC3	DCC1_HUMAN	defective in sister chromatid cohesion 1	274					DNA replication|maintenance of mitotic sister chromatid cohesion|post-translational protein acetylation|regulation of DNA replication	chromatin|chromosome, centromeric region|nucleoplasm	DNA binding|protein binding			pancreas(1)	1	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			AGTAGCATTCGTGCTGCTGCT	0.368												
COL14A1	7373	broad.mit.edu	37	8	121282285	121282285	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr8:121282285G>A	uc003yox.2	+	26	3350	c.3085G>A	c.(3085-3087)GCC>ACC	p.A1029T	COL14A1_uc003yoz.2_5'UTR	NM_021110	NP_066933	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1 precursor	1029					cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			ovary(4)|kidney(4)|skin(2)|pancreas(1)|central_nervous_system(1)	12	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			ATGTAAGGCGGCCAAGGCTGA	0.408												
ZHX1	11244	broad.mit.edu	37	8	124267220	124267220	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr8:124267220A>G	uc003yqe.2	-	3	1397	c.967T>C	c.(967-969)TAT>CAT	p.Y323H	C8orf76_uc003yqd.2_Intron|ZHX1_uc003yqf.2_Missense_Mutation_p.Y323H|ZHX1_uc003yqg.2_Intron|ZHX1_uc010mdi.2_Missense_Mutation_p.Y323H	NM_007222	NP_009153	Q9UKY1	ZHX1_HUMAN	zinc fingers and homeoboxes 1	323	Required for dimerization.|Homeobox 1.|Required for interaction with NFYA.				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)			TCCTCTGTATATTTTGCTTGA	0.398												
ATAD2	29028	broad.mit.edu	37	8	124383982	124383982	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr8:124383982C>T	uc003yqh.3	-	4	572	c.464G>A	c.(463-465)CGT>CAT	p.R155H	ATAD2_uc011lii.1_5'UTR|ATAD2_uc003yqi.3_RNA|ATAD2_uc003yqj.2_Missense_Mutation_p.R155H	NM_014109	NP_054828	Q6PL18	ATAD2_HUMAN	ATPase family, AAA domain containing 2	155					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)			ACAACTTCGACGCACTTCAAC	0.373												
NDUFB9	4715	broad.mit.edu	37	8	125559294	125559294	+	Silent	SNP	T	T	G			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr8:125559294T>G	uc003yrg.3	+	3	433	c.348T>G	c.(346-348)CCT>CCG	p.P116P	NDUFB9_uc011lim.1_Silent_p.P116P	NM_005005	NP_004996	Q9Y6M9	NDUB9_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta	116					mitochondrial electron transport, NADH to ubiquinone|sensory perception of sound|transport	mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity			ovary(1)|skin(1)	2	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)		NADH(DB00157)	CAATGTATCCTGATTACTTTG	0.463												
KIAA0196	9897	broad.mit.edu	37	8	126062902	126062902	+	Silent	SNP	A	A	G			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr8:126062902A>G	uc003yrt.2	-	18	2432	c.2103T>C	c.(2101-2103)GAT>GAC	p.D701D	KIAA0196_uc011lir.1_Silent_p.D553D|KIAA0196_uc003yru.1_Silent_p.D275D	NM_014846	NP_055661	Q12768	STRUM_HUMAN	strumpellin	701					cell death	WASH complex				ovary(2)	2	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)			ACTGCTTTGGATCCACCTAAG	0.453												
FAM49B	51571	broad.mit.edu	37	8	130863080	130863080	+	Splice_Site	SNP	C	C	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr8:130863080C>T	uc003yss.2	-	12	1262	c.713_splice	c.e12+1	p.P238_splice	FAM49B_uc003yst.2_Splice_Site_p.P238_splice|FAM49B_uc003ysu.2_Splice_Site_p.P238_splice|FAM49B_uc003ysv.2_Splice_Site_p.P92_splice|FAM49B_uc003ysw.2_Splice_Site_p.P238_splice|FAM49B_uc003ysx.2_Splice_Site_p.P238_splice|FAM49B_uc003ysy.1_Splice_Site_p.P238_splice	NM_016623	NP_057707	Q9NUQ9	FA49B_HUMAN	hypothetical protein LOC51571												0	Ovarian(5;0.000567)|Esophageal squamous(12;0.00693)|Acute lymphoblastic leukemia(118;0.155)		LUAD - Lung adenocarcinoma(14;0.0989)			CTGATACTCACGGTGTTTCCA	0.328												
TG	7038	broad.mit.edu	37	8	133913747	133913747	+	Missense_Mutation	SNP	G	G	A	rs138469414	byFrequency	TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr8:133913747G>A	uc003ytw.2	+	16	3624	c.3583G>A	c.(3583-3585)GGA>AGA	p.G1195R	TG_uc010mdw.2_Intron	NM_003235	NP_003226	P01266	THYG_HUMAN	thyroglobulin precursor	1195	Thyroglobulin type-1 10.				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			ovary(8)|breast(4)|pancreas(1)|central_nervous_system(1)|skin(1)	15	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		CATGGACAGCGGAGAAGAGGT	0.647												
ST3GAL1	6482	broad.mit.edu	37	8	134488056	134488056	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr8:134488056G>A	uc003yuk.2	-	5	1041	c.212C>T	c.(211-213)TCG>TTG	p.S71L	ST3GAL1_uc003yum.2_Missense_Mutation_p.S71L	NM_173344	NP_775479	Q11201	SIA4A_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase	71	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)			GAACCAGGCCGAGAGCTTGCG	0.607												
ZFAT	57623	broad.mit.edu	37	8	135614560	135614560	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr8:135614560C>T	uc003yup.2	-	6	1577	c.1402G>A	c.(1402-1404)GTC>ATC	p.V468I	ZFAT_uc003yun.2_Missense_Mutation_p.V456I|ZFAT_uc003yuo.2_Missense_Mutation_p.V456I|ZFAT_uc010meh.2_Missense_Mutation_p.V456I|ZFAT_uc010mei.2_RNA|ZFAT_uc003yuq.2_Missense_Mutation_p.V456I|ZFAT_uc010mej.2_Missense_Mutation_p.V406I|ZFAT_uc003yur.2_Missense_Mutation_p.V456I	NM_020863	NP_065914	Q9P243	ZFAT_HUMAN	zinc finger protein 406 isoform ZFAT-1	468	C2H2-type 9.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	DNA binding|zinc ion binding			central_nervous_system(1)	1	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			ATGGAGCTGACGAACTTCTTG	0.602												
KCNK9	51305	broad.mit.edu	37	8	140715158	140715158	+	Silent	SNP	G	G	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr8:140715158G>A	uc003yvf.1	-	1	142	c.78C>T	c.(76-78)TTC>TTT	p.F26F	KCNK9_uc003yvg.1_Silent_p.F26F	NM_016601	NP_057685	Q9NPC2	KCNK9_HUMAN	potassium channel, subfamily K, member 9	26	Helical; (Potential).					integral to membrane|membrane fraction	potassium channel activity|voltage-gated ion channel activity			ovary(2)|lung(1)	3	all_cancers(97;3.94e-14)|all_epithelial(106;4.81e-13)|Lung NSC(106;8.18e-05)|all_lung(105;0.00015)|Ovarian(258;0.00235)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;0.134)	BRCA - Breast invasive adenocarcinoma(115;0.0855)			CGAGGGCGTCGAACACGGCGG	0.627												
PTP4A3	11156	broad.mit.edu	37	8	142441050	142441050	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr8:142441050G>A	uc003ywg.1	+	5	762	c.428G>A	c.(427-429)AGC>AAC	p.S143N	PTP4A3_uc003ywh.1_Missense_Mutation_p.S118N|PTP4A3_uc010met.1_Missense_Mutation_p.A57T	NM_032611	NP_116000	O75365	TP4A3_HUMAN	protein tyrosine phosphatase type IVA, member 3	143	Tyrosine-protein phosphatase.					early endosome|plasma membrane	identical protein binding|prenylated protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity				0	all_cancers(97;2.55e-15)|all_epithelial(106;1.39e-13)|Lung NSC(106;2.07e-05)|all_lung(105;2.89e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0474)			GCCATCAACAGCAAGCAGCTC	0.592												
ZC3H3	23144	broad.mit.edu	37	8	144547949	144547949	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr8:144547949C>T	uc003yyd.2	-	9	2274	c.2245G>A	c.(2245-2247)GTG>ATG	p.V749M		NM_015117	NP_055932	Q8IXZ2	ZC3H3_HUMAN	zinc finger CCCH-type containing 3	749	C3H1-type 3.				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)			TTGCGGGACACGTACACGTGG	0.637												
ZNF707	286075	broad.mit.edu	37	8	144776046	144776046	+	Silent	SNP	G	G	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr8:144776046G>A	uc003yze.3	+	7	777	c.462G>A	c.(460-462)ACG>ACA	p.T154T	ZNF707_uc010mfh.2_Silent_p.T154T|ZNF707_uc010mfi.2_Silent_p.T154T|ZNF707_uc003yzf.3_Silent_p.T154T|ZNF707_uc003yzh.3_Silent_p.T81T|ZNF707_uc011lkq.1_RNA	NM_173831	NP_776192	Q96C28	ZN707_HUMAN	zinc finger protein 707	154					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			breast(1)	1	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;5.6e-41)|Epithelial(56;1.02e-39)|all cancers(56;9.65e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			AGGTGCTCACGCAGCGTTGTG	0.672												
SPATC1	375686	broad.mit.edu	37	8	145101719	145101719	+	Silent	SNP	C	C	T	rs149191984	byFrequency	TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr8:145101719C>T	uc011lkw.1	+	5	1740	c.1638C>T	c.(1636-1638)GGC>GGT	p.G546G	SPATC1_uc011lkx.1_3'UTR	NM_198572	NP_940974	Q76KD6	SPERI_HUMAN	spermatogenesis and centriole associated 1	546										ovary(1)|central_nervous_system(1)	2	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;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;3.67e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CGTCTGAGGGCGGCCCCTACA	0.697												
FBXL6	26233	broad.mit.edu	37	8	145580725	145580725	+	Silent	SNP	A	A	G			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr8:145580725A>G	uc003zcb.2	-	4	721	c.696T>C	c.(694-696)GGT>GGC	p.G232G	C8ORFK29_uc011llb.1_5'Flank|C8ORFK29_uc010mfw.2_5'Flank|C8ORFK29_uc003zby.3_5'Flank|FBXL6_uc003zbz.2_5'UTR|FBXL6_uc003zca.2_Silent_p.G226G|FBXL6_uc010mfx.2_5'UTR|GPR172A_uc003zcc.1_5'Flank|GPR172A_uc003zcd.1_5'Flank|GPR172A_uc003zce.1_5'Flank|GPR172A_uc010mfy.1_5'Flank|GPR172A_uc003zcf.1_5'Flank|GPR172A_uc011llc.1_5'Flank	NM_012162	NP_036294	Q8N531	FBXL6_HUMAN	F-box and leucine-rich repeat protein 6 isoform	232	LRR 3.				proteolysis		ubiquitin-protein ligase activity			ovary(1)|lung(1)	2	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;4.43e-40)|Epithelial(56;1.48e-39)|all cancers(56;1.49e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0441)|Colorectal(110;0.055)			CAGCAGTCACACCGTGGCAGC	0.637												
GPR172A	79581	broad.mit.edu	37	8	145583729	145583729	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr8:145583729G>A	uc003zcc.1	+	3	734	c.577G>A	c.(577-579)GCC>ACC	p.A193T	FBXL6_uc003zbz.2_5'Flank|FBXL6_uc003zca.2_5'Flank|FBXL6_uc003zcb.2_5'Flank|FBXL6_uc010mfx.2_5'Flank|GPR172A_uc003zcd.1_Missense_Mutation_p.A193T|GPR172A_uc003zce.1_Missense_Mutation_p.A193T|GPR172A_uc010mfy.1_Missense_Mutation_p.A193T|GPR172A_uc003zcf.1_Missense_Mutation_p.A193T|GPR172A_uc011llc.1_Missense_Mutation_p.A105T	NM_024531	NP_078807	Q9HAB3	RFT3_HUMAN	G protein-coupled receptor 172A precursor	193						integral to plasma membrane	receptor activity|riboflavin transporter activity				0	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;4.43e-40)|Epithelial(56;1.48e-39)|all cancers(56;1.49e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0441)|Colorectal(110;0.055)			GCGTTTTCCCGCCAGCACCTT	0.662												
RECQL4	9401	broad.mit.edu	37	8	145741187	145741187	+	Missense_Mutation	SNP	C	C	T	rs117670586	by1000genomes	TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr8:145741187C>T	uc003zdj.2	-	6	1251	c.1219G>A	c.(1219-1221)GAG>AAG	p.E407K	LRRC14_uc003zdk.1_5'Flank|LRRC14_uc003zdl.1_5'Flank	NM_004260	NP_004251	O94761	RECQ4_HUMAN	RecQ protein-like 4	407					DNA duplex unwinding|DNA recombination|DNA repair	cytoplasm|nucleus	ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|DNA strand annealing activity|zinc ion binding			breast(2)|lung(1)|skin(1)	4	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			TCGAACTGCTCGTTCAGGAAA	0.617			N|F|S			osteosarcoma|skin basal and sqamous cell		Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents	RAPADILINO_syndrome|Rothmund-Thomson_syndrome|Baller-Gerold_syndrome			
DMRT3	58524	broad.mit.edu	37	9	990546	990546	+	Silent	SNP	C	C	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr9:990546C>A	uc003zgw.1	+	2	998	c.960C>A	c.(958-960)TCC>TCA	p.S320S		NM_021240	NP_067063	Q9NQL9	DMRT3_HUMAN	doublesex and mab-3 related transcription factor	320					cell differentiation|multicellular organismal development|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			ovary(2)|central_nervous_system(1)	3		all_lung(10;1.39e-08)|Lung NSC(10;1.42e-08)		Lung(218;0.0196)		CCTTGAGCTCCTACCCCATCT	0.557												
KCNV2	169522	broad.mit.edu	37	9	2718833	2718833	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr9:2718833C>T	uc003zho.1	+	1	1308	c.1094C>T	c.(1093-1095)ACG>ATG	p.T365M		NM_133497	NP_598004	Q8TDN2	KCNV2_HUMAN	potassium channel, subfamily V, member 2	365	Extracellular (Potential).					voltage-gated potassium channel complex	voltage-gated potassium channel activity			ovary(1)|central_nervous_system(1)	2				GBM - Glioblastoma multiforme(50;0.0257)		CGCGGCCAGACGGTGGGCAGC	0.672												
UHRF2	115426	broad.mit.edu	37	9	6475403	6475403	+	Silent	SNP	A	A	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr9:6475403A>T	uc003zjy.2	+	5	1216	c.876A>T	c.(874-876)GGA>GGT	p.G292G	UHRF2_uc003zjz.2_RNA|UHRF2_uc003zka.1_Silent_p.G69G	NM_152896	NP_690856	Q96PU4	UHRF2_HUMAN	ubiquitin-like with PHD and ring finger domains	292					cell cycle|cell differentiation|cell proliferation|protein autoubiquitination|regulation of cell cycle|ubiquitin-dependent protein catabolic process	nucleus	DNA binding|histone binding|ubiquitin-protein ligase activity|zinc ion binding			large_intestine(2)|ovary(1)	3		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0392)|Lung(218;0.129)		GTTCTGAAGGAACATTAAATG	0.348												
KDM4C	23081	broad.mit.edu	37	9	7015920	7015920	+	Silent	SNP	G	G	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr9:7015920G>A	uc003zkh.2	+	15	2830	c.2250G>A	c.(2248-2250)GCG>GCA	p.A750A	KDM4C_uc010mhu.2_Silent_p.A772A|KDM4C_uc011lmi.1_Silent_p.A750A|KDM4C_uc011lmj.1_RNA|KDM4C_uc003zkg.2_Silent_p.A750A|KDM4C_uc011lmk.1_Silent_p.A495A|KDM4C_uc011lml.1_Silent_p.A437A	NM_015061	NP_055876	Q9H3R0	KDM4C_HUMAN	jumonji domain containing 2C isoform 1	750					positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent	nuclear chromatin	androgen receptor binding|enzyme binding|histone demethylase activity (H3-K9 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			ovary(1)	1						AAAGAAATGCGTGGACAGCAG	0.408												
TYRP1	7306	broad.mit.edu	37	9	12694013	12694013	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr9:12694013T>A	uc003zkv.3	+	2	195	c.17T>A	c.(16-18)CTC>CAC	p.L6H		NM_000550	NP_000541	P17643	TYRP1_HUMAN	tyrosinase-related protein 1 precursor	6					melanin biosynthetic process	clathrin-coated endocytic vesicle membrane|endosome membrane|integral to membrane|melanosome membrane	copper ion binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, another compound as one donor, and incorporation of one atom of oxygen|protein heterodimerization activity|protein homodimerization activity			lung(1)	1		all_cancers(3;3.1e-05)|all_lung(3;1.7e-06)|Lung NSC(3;2.09e-06)|all_epithelial(3;0.000695)|all_hematologic(3;0.0033)|Acute lymphoblastic leukemia(23;0.0744)		GBM - Glioblastoma multiforme(50;9.85e-06)		GCTCCTAAACTCCTCTCTCTG	0.473									Oculocutaneous_Albinism			
PSIP1	11168	broad.mit.edu	37	9	15474206	15474206	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr9:15474206T>C	uc003zlv.3	-	9	989	c.659A>G	c.(658-660)AAG>AGG	p.K220R	PSIP1_uc003zlw.3_Missense_Mutation_p.K220R|PSIP1_uc003zlz.3_Missense_Mutation_p.K220R|PSIP1_uc003zma.3_Missense_Mutation_p.K211R|PSIP1_uc003zly.2_Missense_Mutation_p.K220R	NM_033222	NP_150091	O75475	PSIP1_HUMAN	PC4 and SFRS1 interacting protein 1 isoform 2	220					initiation of viral infection|interspecies interaction between organisms|nuclear mRNA 5'-splice site recognition|provirus integration|regulation of transcription, DNA-dependent|response to heat|response to oxidative stress|transcription, DNA-dependent	cytosol|nuclear heterochromatin|nuclear periphery|nucleoplasm|nucleoplasm|transcriptionally active chromatin	activating transcription factor binding|chromatin binding|DNA secondary structure binding|RNA polymerase II transcription coactivator activity			breast(1)	1				GBM - Glioblastoma multiforme(50;2.38e-06)		CTCTTGCCCCTTTTTCTTACT	0.358												
OR13J1	392309	broad.mit.edu	37	9	35869831	35869831	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr9:35869831C>T	uc011lph.1	-	1	568	c.568G>A	c.(568-570)GGC>AGC	p.G190S		NM_001004487	NP_001004487	Q8NGT2	O13J1_HUMAN	olfactory receptor, family 13, subfamily J,	190	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)	1	all_epithelial(49;0.169)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00494)|STAD - Stomach adenocarcinoma(86;0.194)			GACGTGTTGCCGCATGCCAGC	0.597												
TJP2	9414	broad.mit.edu	37	9	71827497	71827497	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr9:71827497T>C	uc004ahe.2	+	2	294	c.94T>C	c.(94-96)TAC>CAC	p.Y32H	TJP2_uc011lrs.1_Missense_Mutation_p.Y9H|TJP2_uc004ahb.1_Missense_Mutation_p.Y9H|TJP2_uc011lrt.1_Missense_Mutation_p.Y9H|TJP2_uc004ahd.2_Missense_Mutation_p.Y32H|TJP2_uc004ahf.2_Missense_Mutation_p.Y32H|TJP2_uc011lru.1_Missense_Mutation_p.Y36H|TJP2_uc011lrv.1_Missense_Mutation_p.Y54H	NM_004817	NP_004808	Q9UDY2	ZO2_HUMAN	tight junction protein 2 (zona occludens 2)	32					cellular component disassembly involved in apoptosis	adherens junction|cytoplasm|nucleus|tight junction	guanylate kinase activity|protein binding				0						ATGGGAACAGTACACTGTGAC	0.358												
SMC5	23137	broad.mit.edu	37	9	72965075	72965075	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr9:72965075A>G	uc004ahr.2	+	23	3052	c.2935A>G	c.(2935-2937)AGT>GGT	p.S979G	SMC5_uc011lry.1_Missense_Mutation_p.S124G	NM_015110	NP_055925	Q8IY18	SMC5_HUMAN	SMC5 protein	979					DNA recombination|DNA repair	chromosome|nucleus	ATP binding			ovary(2)|central_nervous_system(1)	3						CAAATTTCGAAGTAGTACTCA	0.328												
FLJ46321	389763	broad.mit.edu	37	9	84607323	84607323	+	Silent	SNP	C	C	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr9:84607323C>T	uc004amn.2	+	4	1985	c.1938C>T	c.(1936-1938)TCC>TCT	p.S646S		NM_001001670	NP_001001670	Q6ZQQ2	F75D1_HUMAN	hypothetical protein LOC389763	646						integral to membrane					0						TTCAAAAATCCCAGGAAGACT	0.468												
ZCCHC6	79670	broad.mit.edu	37	9	88940282	88940282	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr9:88940282T>C	uc004aoq.2	-	12	1971	c.1756A>G	c.(1756-1758)AAG>GAG	p.K586E	ZCCHC6_uc011ltf.1_RNA|ZCCHC6_uc004aor.2_RNA|ZCCHC6_uc004aos.2_RNA|ZCCHC6_uc004aot.2_Missense_Mutation_p.K463E|ZCCHC6_uc004aou.2_Missense_Mutation_p.K586E	NM_024617	NP_078893	Q5VYS8	TUT7_HUMAN	zinc finger, CCHC domain containing 6	586	PAP-associated 1.				RNA 3'-end processing		nucleic acid binding|RNA uridylyltransferase activity|zinc ion binding			ovary(2)	2						GGCCAATCCTTCAATTCCCGA	0.403												
SPTLC1	10558	broad.mit.edu	37	9	94809515	94809515	+	Silent	SNP	C	C	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr9:94809515C>T	uc004arl.1	-	11	1058	c.1020G>A	c.(1018-1020)TCG>TCA	p.S340S	SPTLC1_uc011ltv.1_Silent_p.S340S	NM_006415	NP_006406	O15269	SPTC1_HUMAN	serine palmitoyltransferase subunit 1 isoform a	340	Cytoplasmic (Potential).					integral to membrane|SPOTS complex	protein binding|pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups			ovary(1)|breast(1)	2					L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)	GGGGAGGTAACGAAGCTGAAA	0.433												
GABBR2	9568	broad.mit.edu	37	9	101340346	101340346	+	Silent	SNP	G	G	A	rs139594158	byFrequency	TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr9:101340346G>A	uc004ays.2	-	2	486	c.330C>T	c.(328-330)AAC>AAT	p.N110N		NM_005458	NP_005449	O75899	GABR2_HUMAN	G protein-coupled receptor 51 precursor	110	Extracellular (Potential).				negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity			ovary(2)|skin(2)	4		Acute lymphoblastic leukemia(62;0.0527)			Baclofen(DB00181)	ACCCTTTTGCGTTGTCGCACT	0.463												
SVEP1	79987	broad.mit.edu	37	9	113261516	113261516	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr9:113261516G>A	uc010mtz.2	-	7	1823	c.1486C>T	c.(1486-1488)CGC>TGC	p.R496C	SVEP1_uc010mua.1_Missense_Mutation_p.R496C|SVEP1_uc004beu.2_Missense_Mutation_p.R496C	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN	polydom	496	Sushi 3.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			ovary(7)	7						GAACAGTGGCGCTCTACGGTA	0.433												
DNAJC25-GNG10	552891	broad.mit.edu	37	9	114429191	114429191	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr9:114429191C>T	uc004bfn.2	+	2	455	c.433C>T	c.(433-435)CGG>TGG	p.R145W	GNG10_uc011lws.1_RNA|GNG10_uc004bfp.2_Missense_Mutation_p.R60W	NM_004125	NP_004116	Q9H1X3	DJC25_HUMAN	DNAJC25-GNG10 protein	Error:Variant_position_missing_in_Q9H1X3_after_alignment					protein folding	integral to membrane	heat shock protein binding|unfolded protein binding				0						TAACCCCTTCCGGGAGCCTAG	0.517												
WDR31	114987	broad.mit.edu	37	9	116082681	116082681	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr9:116082681T>C	uc004bhe.2	-	9	988	c.736A>G	c.(736-738)ATC>GTC	p.I246V	WDR31_uc004bhc.2_Missense_Mutation_p.I245V|WDR31_uc004bhd.2_Missense_Mutation_p.I121V|WDR31_uc004bhf.2_RNA	NM_001012361	NP_001012361	Q8NA23	WDR31_HUMAN	WD repeat domain 31 isoform 1	246											0						CTGCAGGAGATACACTTGTGT	0.507												
OR1L3	26735	broad.mit.edu	37	9	125437936	125437936	+	Silent	SNP	T	T	C			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr9:125437936T>C	uc011lzb.1	+	1	528	c.528T>C	c.(526-528)CAT>CAC	p.H176H		NM_001005234	NP_001005234	Q8NH93	OR1L3_HUMAN	olfactory receptor, family 1, subfamily L,	176	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1						TTATCCATCATTTTTTTTGTG	0.463												
PDCL	5082	broad.mit.edu	37	9	125582383	125582383	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr9:125582383C>T	uc004bmz.1	-	4	983	c.887G>A	c.(886-888)AGC>AAC	p.S296N	uc004bmy.2_5'Flank|PDCL_uc004bna.2_3'UTR	NM_005388	NP_005379	Q13371	PHLP_HUMAN	phosducin-like	296					signal transduction|visual perception						0						TTCCAGGTCGCTATCCTCACT	0.418												
RABGAP1	23637	broad.mit.edu	37	9	125760928	125760928	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr9:125760928G>T	uc011lzh.1	+	10	1391	c.1257G>T	c.(1255-1257)CAG>CAT	p.Q419H	RABGAP1_uc004bnl.3_RNA	NM_012197	NP_036329	Q9Y3P9	RBGP1_HUMAN	RAB GTPase activating protein 1	419					cell cycle	centrosome|cytosol|microtubule associated complex	Rab GTPase activator activity|tubulin binding			ovary(3)|kidney(2)	5						CAGAAGTACAGGAGCCTGTTC	0.393												
FAM129B	64855	broad.mit.edu	37	9	130294048	130294048	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr9:130294048C>T	uc004brh.2	-	2	267	c.65G>A	c.(64-66)GGG>GAG	p.G22E	FAM129B_uc004bri.2_Missense_Mutation_p.G9E|FAM129B_uc004brj.3_Missense_Mutation_p.G22E	NM_022833	NP_073744	Q96TA1	NIBL1_HUMAN	hypothetical protein LOC64855 isoform 1	22							protein binding				0						CAGGATCTTCCCGGTTTTTTC	0.532												
ABL1	25	broad.mit.edu	37	9	133730285	133730285	+	Silent	SNP	G	G	A	rs141072111		TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr9:133730285G>A	uc004bzw.2	+	3	354	c.351G>A	c.(349-351)ACG>ACA	p.T117T	ABL1_uc004bzv.2_Silent_p.T136T	NM_005157	NP_005148	P00519	ABL1_HUMAN	c-abl oncogene 1, receptor tyrosine kinase	117	SH3.				actin cytoskeleton organization|axon guidance|blood coagulation|cell adhesion|DNA damage induced protein phosphorylation|DNA damage response, signal transduction resulting in induction of apoptosis|mismatch repair|muscle cell differentiation|negative regulation of protein serine/threonine kinase activity|peptidyl-tyrosine phosphorylation|positive regulation of muscle cell differentiation|positive regulation of oxidoreductase activity|regulation of transcription involved in S phase of mitotic cell cycle	cytoskeleton|cytosol|nuclear membrane|nucleolus|perinuclear region of cytoplasm	ATP binding|DNA binding|magnesium ion binding|manganese ion binding|mitogen-activated protein kinase binding|non-membrane spanning protein tyrosine kinase activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding			haematopoietic_and_lymphoid_tissue(807)|lung(5)|stomach(2)|central_nervous_system(1)|breast(1)|skin(1)	817		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	Adenosine triphosphate(DB00171)|Dasatinib(DB01254)|Imatinib(DB00619)	ACTACATCACGCCAGTCAACA	0.537			T|Mis	BCR|ETV6|NUP214	CML|ALL|T-ALL							
DDX31	64794	broad.mit.edu	37	9	135537951	135537951	+	Silent	SNP	G	G	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr9:135537951G>A	uc004cbq.1	-	2	674	c.522C>T	c.(520-522)AAC>AAT	p.N174N	DDX31_uc010mzu.1_Silent_p.N174N|DDX31_uc004cbr.1_Silent_p.N174N|DDX31_uc004cbs.1_Silent_p.N174N	NM_022779	NP_073616	Q9H8H2	DDX31_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 31	174						nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding			central_nervous_system(1)	1				OV - Ovarian serous cystadenocarcinoma(145;2.67e-06)|Epithelial(140;7.61e-05)		TTTTTTGTGCGTTCCCCTTAA	0.433												
REXO4	57109	broad.mit.edu	37	9	136279942	136279942	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr9:136279942C>T	uc004cdm.2	-	2	615	c.415G>A	c.(415-417)GAC>AAC	p.D139N	ADAMTS13_uc004cdp.3_Intron|REXO4_uc011mde.1_Missense_Mutation_p.D2N|REXO4_uc011mdf.1_Missense_Mutation_p.D2N|REXO4_uc004cdn.2_Intron|REXO4_uc004cdo.2_Nonsense_Mutation_p.W79*	NM_020385	NP_065118	Q9GZR2	REXO4_HUMAN	XPMC2 prevents mitotic catastrophe 2 homolog	139						nucleolus	exonuclease activity|nucleic acid binding|sequence-specific DNA binding transcription factor activity				0				OV - Ovarian serous cystadenocarcinoma(145;8.58e-08)|Epithelial(140;9.55e-07)|all cancers(34;1.05e-05)		GCCCTCCTGTCCATCTTGGAA	0.527												
ADAMTS13	11093	broad.mit.edu	37	9	136310835	136310835	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr9:136310835G>A	uc004cdv.3	+	21	3070	c.2626G>A	c.(2626-2628)GCA>ACA	p.A876T	ADAMTS13_uc004cdp.3_Missense_Mutation_p.A103T|ADAMTS13_uc004cdt.1_Missense_Mutation_p.A876T|ADAMTS13_uc004cdu.1_Missense_Mutation_p.A845T|ADAMTS13_uc004cdw.3_Missense_Mutation_p.A876T|ADAMTS13_uc004cdx.3_Missense_Mutation_p.A845T|ADAMTS13_uc004cdy.1_RNA|ADAMTS13_uc004cdz.3_Missense_Mutation_p.A546T|ADAMTS13_uc004cds.1_Missense_Mutation_p.A401T|ADAMTS13_uc004cdr.1_RNA	NM_139025	NP_620594	Q76LX8	ATS13_HUMAN	ADAM metallopeptidase with thrombospondin type 1	876					cell-matrix adhesion|glycoprotein metabolic process|integrin-mediated signaling pathway|peptide catabolic process|platelet activation|protein processing|proteolysis	cell surface|proteinaceous extracellular matrix	calcium ion binding|integrin binding|metalloendopeptidase activity|zinc ion binding			central_nervous_system(2)|skin(2)|ovary(1)|kidney(1)	6				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		TGCCACCTCTGCAGGGGAGAA	0.657												
TMEM8C	389827	broad.mit.edu	37	9	136384042	136384042	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr9:136384042T>C	uc011mdk.1	-	3	353	c.353A>G	c.(352-354)TAC>TGC	p.Y118C		NM_001080483	NP_001073952	A6NI61	TMM8C_HUMAN	transmembrane protein 8C	118	Helical; (Potential).					integral to membrane					0						GGGGCCCGAGTACACCCCGTA	0.617												
AGPAT2	10555	broad.mit.edu	37	9	139571494	139571494	+	Silent	SNP	G	G	A	rs149658120		TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr9:139571494G>A	uc004cii.1	-	3	513	c.411C>T	c.(409-411)GGC>GGT	p.G137G	AGPAT2_uc004cij.1_Silent_p.G137G	NM_006412	NP_006403	O15120	PLCB_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 2	137	Helical; (Potential).				phosphatidic acid biosynthetic process|positive regulation of cytokine production|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity				0	all_cancers(76;0.0893)|all_epithelial(76;0.231)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;9.87e-06)|Epithelial(140;0.000123)		TGAAGAAGACGCCCCCGAGGT	0.652												
TMEM203	94107	broad.mit.edu	37	9	140099729	140099729	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr9:140099729C>A	uc004clv.2	-	1	362	c.138G>T	c.(136-138)TGG>TGT	p.W46C	NDOR1_uc004clx.2_5'Flank|NDOR1_uc004clw.2_5'Flank|NDOR1_uc011mes.1_5'Flank|NDOR1_uc004cly.2_5'Flank	NM_053045	NP_444273	Q969S6	TM203_HUMAN	transmembrane protein 203	46						integral to membrane					0	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)		ACACGTTCCACCAGGAGAGGC	0.627												
PPP2R3B	28227	broad.mit.edu	37	X	299553	299553	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chrX:299553T>C	uc004cpg.2	-	11	1631	c.1430A>G	c.(1429-1431)TAC>TGC	p.Y477C	PPP2R3B_uc004cpf.2_Missense_Mutation_p.Y78C	NM_013239	NP_037371	Q9Y5P8	P2R3B_HUMAN	protein phosphatase 2, regulatory subunit B'',	477					cell cycle arrest|protein dephosphorylation	nucleus|protein phosphatase type 2A complex	calcium ion binding|protein phosphatase type 2A regulator activity|protein serine/threonine phosphatase 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)				GTGGTCGAGGTACTTCTCGAT	0.498												
NLGN4X	57502	broad.mit.edu	37	X	5821797	5821797	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chrX:5821797T>C	uc010ndh.2	-	5	1423	c.922A>G	c.(922-924)ATG>GTG	p.M308V	NLGN4X_uc004crp.2_Missense_Mutation_p.M328V|NLGN4X_uc004crq.2_Missense_Mutation_p.M308V|NLGN4X_uc010ndi.2_Missense_Mutation_p.M345V|NLGN4X_uc004crr.2_Missense_Mutation_p.M308V|NLGN4X_uc010ndj.2_Missense_Mutation_p.M308V	NM_181332	NP_851849	Q8N0W4	NLGNX_HUMAN	X-linked neuroligin 4 precursor	308	Extracellular (Potential).				brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|dendrite|integral to plasma membrane|synapse	chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity			skin(2)|large_intestine(1)|ovary(1)	4						GTGTCCAGCATGTTGCAGCCG	0.582												
GPR143	4935	broad.mit.edu	37	X	9716622	9716622	+	Silent	SNP	G	G	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chrX:9716622G>T	uc004cst.1	-	4	600	c.600C>A	c.(598-600)TCC>TCA	p.S200S		NM_000273	NP_000264	P51810	GP143_HUMAN	G protein-coupled receptor 143	180	Extracellular (Potential).				calcium-mediated signaling using intracellular calcium source|eye pigment biosynthetic process|melanosome organization|melanosome transport|phosphatidylinositol-mediated signaling|regulation of calcium-mediated signaling|visual perception	apical plasma membrane|Golgi apparatus|integral to membrane|lysosomal membrane|melanosome membrane|membrane fraction	dopamine binding|L-DOPA receptor activity|protein binding|tyrosine binding			ovary(1)	1		Hepatocellular(5;0.000888)				ACCTGGACACGGAAGGGTAGT	0.597												
GEMIN8	54960	broad.mit.edu	37	X	14027111	14027111	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chrX:14027111G>A	uc004cwb.2	-	5	993	c.650C>T	c.(649-651)GCC>GTC	p.A217V	GEMIN8_uc004cwc.2_Missense_Mutation_p.A217V|GEMIN8_uc004cwd.2_Missense_Mutation_p.A217V	NM_017856	NP_060326	Q9NWZ8	GEMI8_HUMAN	gem (nuclear organelle) associated protein 8	217					spliceosomal snRNP assembly	Cajal body|cytoplasm|SMN complex|spliceosomal complex	protein binding				0						CTGCACCGCGGCCTCCATGGC	0.617												
CDKL5	6792	broad.mit.edu	37	X	18622050	18622050	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chrX:18622050C>T	uc004cym.2	+	12	1259	c.1006C>T	c.(1006-1008)CAG>TAG	p.Q336*	CDKL5_uc004cyn.2_Nonsense_Mutation_p.Q336*	NM_003159	NP_003150	O76039	CDKL5_HUMAN	cyclin-dependent kinase-like 5	336					neuron migration|positive regulation of axon extension|positive regulation of dendrite morphogenesis|positive regulation of Rac GTPase activity|protein autophosphorylation	dendrite cytoplasm|dendritic growth cone|nucleus	ATP binding|cyclin-dependent protein kinase activity|Rac GTPase binding			ovary(2)|large_intestine(1)|stomach(1)|central_nervous_system(1)|skin(1)	6	Hepatocellular(33;0.183)					TACTGCTTTGCAGTCTCACCA	0.438												
SUV39H1	6839	broad.mit.edu	37	X	48558962	48558962	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chrX:48558962G>A	uc004dkn.2	+	3	691	c.646G>A	c.(646-648)GGG>AGG	p.G216R	SUV39H1_uc011mmf.1_Missense_Mutation_p.G227R|SUV39H1_uc011mmg.1_RNA	NM_003173	NP_003164	O43463	SUV91_HUMAN	suppressor of variegation 3-9 homolog 1	216	Pre-SET.				cell cycle|cell differentiation|chromatin silencing at rDNA|interspecies interaction between organisms|rRNA processing|transcription, DNA-dependent	chromatin silencing complex|chromosome, centromeric region|condensed nuclear chromosome|rDNA heterochromatin	chromatin binding|histone methyltransferase activity (H3-K9 specific)|protein N-terminus binding|zinc ion binding				0						GCTTCGAGCCGGGCTGCCCAT	0.622												
MED12	9968	broad.mit.edu	37	X	70348474	70348474	+	Silent	SNP	G	G	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chrX:70348474G>A	uc004dyy.2	+	24	3580	c.3381G>A	c.(3379-3381)TCG>TCA	p.S1127S	MED12_uc011mpq.1_Silent_p.S1127S|MED12_uc004dyz.2_Silent_p.S1127S|MED12_uc004dza.2_Silent_p.S974S|MED12_uc010nla.2_5'Flank	NM_005120	NP_005111	Q93074	MED12_HUMAN	mediator complex subunit 12	1127					androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	4	Renal(35;0.156)					TTCATGACTCGCTGGCTACTT	0.522											OREG0019857	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
MED12	9968	broad.mit.edu	37	X	70353001	70353001	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chrX:70353001A>G	uc004dyy.2	+	33	4755	c.4556A>G	c.(4555-4557)TAC>TGC	p.Y1519C	MED12_uc011mpq.1_Missense_Mutation_p.Y1519C|MED12_uc004dyz.2_Missense_Mutation_p.Y1519C|MED12_uc004dza.2_Missense_Mutation_p.Y1366C|MED12_uc010nla.2_Missense_Mutation_p.Y145C	NM_005120	NP_005111	Q93074	MED12_HUMAN	mediator complex subunit 12	1519					androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	4	Renal(35;0.156)					GATGACCAGTACTTAGATGAT	0.453												
GRIA3	2892	broad.mit.edu	37	X	122616765	122616765	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chrX:122616765C>T	uc004etq.3	+	16	2848	c.2555C>T	c.(2554-2556)GCA>GTA	p.A852V	GRIA3_uc004etr.3_Missense_Mutation_p.A852V|GRIA3_uc004ets.3_RNA	NM_007325	NP_015564	P42263	GRIA3_HUMAN	glutamate receptor, ionotrophic, AMPA 3 isoform	852	Cytoplasmic (Potential).				glutamate signaling pathway|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			ovary(3)|central_nervous_system(1)|pancreas(1)	5					L-Glutamic Acid(DB00142)	AAATCACGGGCAGAGTCCAAA	0.473												
ACTRT1	139741	broad.mit.edu	37	X	127185298	127185298	+	Silent	SNP	T	T	C			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chrX:127185298T>C	uc004eum.2	-	1	1085	c.888A>G	c.(886-888)GCA>GCG	p.A296A		NM_138289	NP_612146	Q8TDG2	ACTT1_HUMAN	actin-related protein T1	296						cytoplasm|cytoskeleton				ovary(2)|central_nervous_system(2)|skin(1)	5						GTACAATGTCTGCATAAAGTT	0.522												
F9	2158	broad.mit.edu	37	X	138644004	138644004	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chrX:138644004A>G	uc004fas.1	+	8	1189	c.1160A>G	c.(1159-1161)AAG>AGG	p.K387R	F9_uc004fat.1_Missense_Mutation_p.K349R	NM_000133	NP_000124	P00740	FA9_HUMAN	coagulation factor IX preproprotein	387	Peptidase S1.		K -> E (in HEMB; mild).		blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|extracellular region|Golgi lumen|plasma membrane	calcium ion binding|serine-type endopeptidase activity			lung(2)|ovary(1)	3	Acute lymphoblastic leukemia(192;0.000127)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Heparin(DB01109)|Menadione(DB00170)	CGATCTACAAAGTTCACCATC	0.463												
CD99L2	83692	broad.mit.edu	37	X	149983362	149983362	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chrX:149983362G>A	uc004fel.2	-	4	368	c.250C>T	c.(250-252)CGC>TGC	p.R84C	CD99L2_uc004fek.2_RNA|CD99L2_uc004fem.2_Intron|CD99L2_uc004fen.2_Intron|CD99L2_uc004feo.2_RNA|CD99L2_uc011myb.1_Missense_Mutation_p.R84C	NM_031462	NP_113650	Q8TCZ2	C99L2_HUMAN	CD99 antigen-like 2 isoform E3'-E4'-E3-E4	84	Extracellular (Potential).				cell adhesion	cell junction|integral to membrane				large_intestine(2)|ovary(1)	3	Acute lymphoblastic leukemia(192;6.56e-05)					GGTTTCCTGCGGCCATCATCT	0.453												
PLXNB3	5365	broad.mit.edu	37	X	153040420	153040420	+	Silent	SNP	C	C	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chrX:153040420C>T	uc004fii.2	+	24	4191	c.4017C>T	c.(4015-4017)CGC>CGT	p.R1339R	PLXNB3_uc010nuk.2_Silent_p.R1362R|PLXNB3_uc011mzd.1_Silent_p.R978R|PLXNB3_uc004fij.1_RNA|SRPK3_uc004fik.2_5'Flank	NM_005393	NP_005384	Q9ULL4	PLXB3_HUMAN	plexin B3 isoform 1	1339	Cytoplasmic (Potential).				axon guidance	integral to membrane|intracellular|plasma membrane	protein binding|receptor activity			lung(1)	1	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					ACGCCGAGCGCGCCTTCTTCC	0.701												
SPRY3	10251	broad.mit.edu	37	X	155003589	155003589	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chrX:155003589G>A	uc004fnq.1	+	2	510	c.56G>A	c.(55-57)CGC>CAC	p.R19H	SPRY3_uc010nvl.1_Missense_Mutation_p.R19H	NM_005840	NP_005831	O43610	SPY3_HUMAN	sprouty homolog 3	19					multicellular organismal development|regulation of signal transduction	cytoplasm|membrane					0	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					GAACAGCTGCGCTCTACTCAT	0.488												
HELB	92797	broad.mit.edu	37	12	66731962	66731962	+	RNA	DEL	A	A	-			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr12:66731962delA	uc010ssz.1	+	13		c.3448delA			HELB_uc009zqt.1_RNA			Q8NG08	HELB_HUMAN	Homo sapiens helicase B mRNA, complete cds.						DNA replication, synthesis of RNA primer		ATP binding|ATP-dependent 5'-3' DNA helicase activity|single-stranded DNA-dependent ATP-dependent DNA helicase activity			central_nervous_system(1)|pancreas(1)	2			GBM - Glioblastoma multiforme(2;0.000142)	GBM - Glioblastoma multiforme(28;0.0265)		GTACCAAGATAAAAAAAGTTT	0.294												
COL27A1	85301	broad.mit.edu	37	9	117008145	117008145	+	Splice_Site	DEL	G	G	-			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr9:117008145delG	uc011lxl.1	+	24	2935	c.2935_splice	c.e24-1	p.G979_splice	COL27A1_uc004bii.2_Splice_Site	NM_032888	NP_116277	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1 precursor						cell adhesion		extracellular matrix structural constituent			ovary(3)|skin(1)	4						TCTCTTTGCAGGGGGAACCAG	0.517												
ASPM	259266	broad.mit.edu	37	1	197091176	197091176	+	Splice_Site	DEL	A	A	-			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr1:197091175_197091175TA>T	uc001gtu.3	-	16	3999	c.3742_splice	c.e16-1	p.V1248_splice	ASPM_uc001gtv.3_Splice_Site_p.V1248_splice|ASPM_uc001gtw.4_Intron	NM_018136	NP_060606	Q8IZT6	ASPM_HUMAN	Homo sapiens asp (abnormal spindle) homolog, microcephaly associated (Drosophila) (ASPM), transcript variant 1, mRNA.	1248					mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						AATAACCACCTAAAAAAAACC	0.303												
PSME4	23198	broad.mit.edu	37	2	54167140	54167140	+	Splice_Site	DEL	G	G	-			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr2:54167139_54167139TG>T	uc002rxp.2	-	4	557	c.501_splice	c.e4-1	p.N167_splice	PSME4_uc010yop.1_Splice_Site_p.N53_splice|PSME4_uc010yoq.1_Splice_Site|PSME4_uc010fbu.1_Splice_Site|PSME4_uc010fbv.1_Intron|PSME4_uc021vho.1_Intron	NM_014614	NP_055429	Q14997	PSME4_HUMAN	Homo sapiens proteasome (prosome, macropain) activator subunit 4 (PSME4), mRNA.	167					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|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|spermatogenesis|viral reproduction	nuclear speck|proteasome complex	binding			breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			TCTACAGAACTGGGGGGGGAA	0.348												
SLC25A12	8604	broad.mit.edu	37	2	172725336	172725336	+	Splice_Site	DEL	A	A	-			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr2:172725335_172725335TA>T	uc002uhh.2	-	3	156	c.67_splice	c.e3-1	p.Y23_splice	SLC25A12_uc010fqh.2_Splice_Site|SLC25A12_uc010zdv.1_Splice_Site	NM_003705	NP_003696	O75746	CMC1_HUMAN	Homo sapiens solute carrier family 25 (mitochondrial carrier, Aralar), member 12 (SLC25A12), nuclear gene encoding mitochondrial protein, mRNA.	23					gluconeogenesis|malate-aspartate shuttle|response to calcium ion	integral to membrane|mitochondrial inner membrane	L-aspartate transmembrane transporter activity|L-glutamate transmembrane transporter activity|calcium ion binding|protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|upper_aerodigestive_tract(1)	23			OV - Ovarian serous cystadenocarcinoma(117;0.216)		L-Aspartic Acid(DB00128)	ACTGGCATACTAAAAAAATAA	0.313												
ANKRD44	91526	broad.mit.edu	37	2	197975571	197975571	+	Splice_Site	DEL	A	A	-			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr2:197975570_197975570TA>T	uc021vuj.1	-	9	1100	c.907_splice	c.e9-1	p.S303_splice	ANKRD44_uc002utz.4_Splice_Site|ANKRD44_uc021vuk.1_Splice_Site_p.S278_splice|ANKRD44_uc002uub.3_Splice_Site_p.S303_splice|ANKRD44_uc010zgw.2_Splice_Site_p.S231_splice|ANKRD44_uc002uuc.3_Splice_Site_p.S303_splice	NM_001195144	NP_001182073	Q8N8A2	ANR44_HUMAN	Homo sapiens ankyrin repeat domain 44 (ANKRD44), transcript variant A, mRNA.	303							protein binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(20)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.246)			ATCTTTACTCTAAAAAAAAGA	0.448												
RNF145	153830	broad.mit.edu	37	5	158596066	158596066	+	Splice_Site	DEL	A	A	-			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr5:158596065_158596065TA>T	uc010jiq.2	-	8	1179	c.1029_splice	c.e8-1	p.R343_splice	RNF145_uc011ddy.2_Splice_Site_p.R327_splice|RNF145_uc003lxo.2_Splice_Site_p.R341_splice|RNF145_uc011ddz.2_Splice_Site_p.R330_splice|RNF145_uc003lxp.3_Splice_Site_p.R313_splice|RNF145_uc011dea.2_Intron	NM_001199380	NP_001186309	Q96MT1	RN145_HUMAN	Homo sapiens ring finger protein 145 (RNF145), transcript variant 1, mRNA.	313						integral to membrane	zinc ion binding			endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30	Renal(175;0.00196)	Medulloblastoma(196;0.0523)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GTCATGCCCCTAAAAAAAGCA	0.363												
HLA-A	3105	broad.mit.edu	37	6	29911900	29911900	+	Splice_Site	DEL	C	C	-	rs75368153		TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr6:29911899_29911899AC>A	uc003nol.3	+	4	704	c.620_splice	c.e4-1	p.D207_splice	HLA-G_uc021ytw.1_Intron|HLA-G_uc011dmb.2_Intron|HLA-J_uc021yty.1_Intron|AK097625_uc003nog.1_5'Flank|HLA-A_uc021ytz.1_Splice_Site_p.D207_splice|HLA-A_uc010jrq.3_Splice_Site_p.D86_splice|HLA-A_uc003nok.3_Splice_Site_p.D86_splice|HLA-A_uc010klp.2_Splice_Site_p.D179_splice|HLA-A_uc011dmc.2_Splice_Site_p.D86_splice|HLA-A_uc011dmd.2_Splice_Site_p.D86_splice|HLA-A_uc021yub.1_5'Flank	NM_002116	NP_002107	P30443	1A01_HUMAN	Homo sapiens major histocompatibility complex, class I, A (HLA-A), transcript variant 1, mRNA.	207	Alpha-3.				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 plasma membrane	MHC class I receptor activity			central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						TTCCCGTCAGACCCCCCCAAG	0.577									Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Multiple Myeloma(9;0.094)		
HERC4	26091	broad.mit.edu	37	10	69785436	69785436	+	Splice_Site	DEL	A	A	-	rs3834396	by1000genomes	TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr10:69785435_69785435TA>T	uc001jng.4	-	8	1089	c.778_splice	c.e8-1	p.E260_splice	HERC4_uc001jnf.4_Splice_Site|HERC4_uc001jnh.4_Splice_Site_p.E260_splice|HERC4_uc009xpr.3_Splice_Site_p.E260_splice|HERC4_uc001jni.4_Splice_Site_p.E4_splice	NM_022079	NP_071362	Q5GLZ8	HERC4_HUMAN	Homo sapiens hect domain and RLD 4 (HERC4), transcript variant 1, mRNA.	260					cell differentiation|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|spermatogenesis	cytosol	ubiquitin-protein ligase activity	p.?(1)		NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	27						TCCACCTTCCTAAAAAAAGAC	0.338												
NAP1L4	4676	broad.mit.edu	37	11	2991167	2991167	+	Splice_Site	DEL	A	A	-			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr11:2991166_2991166TA>T	uc010qxm.2	-	8	687	c.403_splice	c.e8-1	p.G135_splice	NAP1L4_uc001lxc.3_Splice_Site_p.G135_splice|NAP1L4_uc010qxn.2_Splice_Site_p.G135_splice	NM_005969	NP_005960	Q99733	NP1L4_HUMAN	Homo sapiens nucleosome assembly protein 1-like 4 (NAP1L4), mRNA.	135					nucleosome assembly	chromatin assembly complex|cytoplasm	unfolded protein binding			endometrium(2)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)	13		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;0.00301)|LUSC - Lung squamous cell carcinoma(625;0.211)		CATGTCTCCCTAAAAAAAAGA	0.418												
LGR4	55366	broad.mit.edu	37	11	27401816	27401817	+	Splice_Site	DEL	AC	AC	-			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr11:27401815_27401816TAC>T	uc001mrj.4	-	10	1456	c.971_splice	c.e10+1	p.L324_splice	LGR4_uc001mrk.4_Splice_Site_p.L300_splice	NM_018490	NP_060960	Q9BXB1	LGR4_HUMAN	Homo sapiens leucine-rich repeat containing G protein-coupled receptor 4 (LGR4), mRNA.	324						integral to membrane|plasma membrane	protein-hormone receptor activity			NS(3)|breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(10)|ovary(1)	32						GGGCCTTACTTACAGACTTTCC	0.436												
DDX6	1656	broad.mit.edu	37	11	118629614	118629615	+	Splice_Site	INS	-	-	G			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr11:118629613_118629614T>TG	uc001pub.2	-	9	1226	c.865_splice	c.e9-1	p.N289_splice	DDX6_uc001pua.2_5'UTR|DDX6_uc001puc.2_Splice_Site_p.N289_splice	NM_004397	NP_004388	P26196	DDX6_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 6 (DDX6), mRNA.	289	Helicase ATP-binding.				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	RNA-induced silencing complex|cytoplasmic mRNA processing body|cytosol|stress granule	ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity|protein binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)	13	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)		ATGGGAATTCTGGGGGGGGAGC	0.426			T	IGH@	B-NHL							
TLE2	7089	broad.mit.edu	37	19	3028804	3028804	+	Splice_Site	DEL	G	G	-			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr19:3028803_3028803TG>T	uc010dth.3	-	2	288	c.25_splice	c.e2-1	p.T9_splice	TLE2_uc002lww.3_Splice_Site_p.T9_splice|TLE2_uc010xhc.2_Splice_Site|TLE2_uc010dti.3_Splice_Site_p.T22_splice|TLE2_uc010xhd.1_Splice_Site_p.T9_splice	NM_003260	NP_003251	Q04725	TLE2_HUMAN	Homo sapiens transducin-like enhancer of split 2 (E(sp1) homolog, Drosophila) (TLE2), transcript variant 1, mRNA.	9	Gln-rich.				Wnt receptor signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|organ morphogenesis|transcription, DNA-dependent	nucleus	protein binding|transcription corepressor activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(1)	13				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GAGCGGGGTCTGGGGGGGGTG	0.622												
TMCO4	255104	broad.mit.edu	37	1	20066382	20066382	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr1:20066382delC	uc001bcn.2	-	12	1356	c.1114delG	c.(1114-1116)GTGfs	p.V372fs	TMCO4_uc001bcm.2_Intron|TMCO4_uc001bco.1_Frame_Shift_Del_p.V372fs|TMCO4_uc001bcp.1_Frame_Shift_Del_p.V332fs	NM_181719	NP_859070	Q5TGY1	TMCO4_HUMAN	transmembrane and coiled-coil domains 4	372						integral to membrane					0		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00708)|COAD - Colon adenocarcinoma(152;2.28e-05)|BRCA - Breast invasive adenocarcinoma(304;5.8e-05)|Kidney(64;0.000367)|GBM - Glioblastoma multiforme(114;0.000377)|KIRC - Kidney renal clear cell carcinoma(64;0.00459)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0862)|Lung(427;0.223)		TGGAGACACACCCCCCAGGGG	0.607												
ZMPSTE24	10269	broad.mit.edu	37	1	40724004	40724004	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr1:40724004delG	uc001cfg.2	+	1	272	c.61delG	c.(61-63)GGGfs	p.G21fs	uc001cff.2_5'Flank	NM_005857	NP_005848	O75844	FACE1_HUMAN	zinc metallopeptidase STE24	21	Helical; (Potential).					endoplasmic reticulum membrane|Golgi membrane|integral to membrane	metal ion binding|metalloexopeptidase activity				0	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;6.3e-18)			GCGTATCTTCGGGGCCGTGCT	0.632												
FPGT	8790	broad.mit.edu	37	1	74670596	74670597	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr1:74670596_74670597insA	uc001dgb.1	+	4	902_903	c.865_866insA	c.(865-867)GAAfs	p.E289fs	TNNI3K_uc001dgc.1_Intron|TNNI3K_uc001dgd.2_Intron|TNNI3K_uc001dge.1_Intron|FPGT_uc010oqt.1_Intron|FPGT_uc010oqu.1_Intron|FPGT_uc010oqv.1_Intron	NM_003838	NP_003829	O14772	FPGT_HUMAN	fucose-1-phosphate guanyltransferase	289					fucose metabolic process	cytoplasm	fucose-1-phosphate guanylyltransferase activity|GTP binding			skin(1)	1						TGCTTTTTATGAAAAAATAGGC	0.391												
USP33	23032	broad.mit.edu	37	1	78204970	78204970	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr1:78204970delT	uc001dht.2	-	6	771	c.424delA	c.(424-426)ATAfs	p.I142fs	USP33_uc001dhu.2_Frame_Shift_Del_p.I111fs|USP33_uc001dhv.2_5'UTR|USP33_uc001dhw.2_Frame_Shift_Del_p.I142fs	NM_015017	NP_055832	Q8TEY7	UBP33_HUMAN	ubiquitin specific protease 33 isoform 1	142					axon guidance|cell migration|endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm|VCB complex	cysteine-type endopeptidase activity|G-protein-coupled receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			lung(2)|ovary(1)	3						TTTTCTTGTATTTGGTGAGGT	0.363												
AKR1E2	83592	broad.mit.edu	37	10	4889684	4889684	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr10:4889684delA	uc001ihi.2	+	10	1040	c.925delA	c.(925-927)AAAfs	p.K309fs	AKR1E2_uc001ihl.1_Intron|AKR1E2_uc009xhw.2_Frame_Shift_Del_p.K211fs|AKR1E2_uc001ihj.2_RNA|AKR1E2_uc001ihk.2_Frame_Shift_Del_p.K252fs	NM_001040177	NP_001035267	Q96JD6	AKCL2_HUMAN	aldo-keto reductase family 1, member E2	309						cytoplasm	1,5-anhydro-D-fructose reductase activity				0						TTTCAGAACTAAAAATCACAA	0.343												
CBARA1	10367	broad.mit.edu	37	10	74267946	74267946	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr10:74267946delA	uc001jtb.1	-	7	758	c.625delT	c.(625-627)TCAfs	p.S209fs	CBARA1_uc010qjw.1_5'UTR|CBARA1_uc010qjx.1_Intron|CBARA1_uc009xqo.1_RNA	NM_006077	NP_006068	Q9BPX6	MICU1_HUMAN	calcium binding atopy-related autoantigen 1	207					calcium ion import|defense response|elevation of mitochondrial calcium ion concentration	integral to membrane|mitochondrial inner membrane	calcium ion binding|protein binding			ovary(1)	1						ATGTAGTCTGAAAAGGATATG	0.348												
PTEN	5728	broad.mit.edu	37	10	89717770	89717770	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr10:89717770delA	uc001kfb.2	+	8	1826	c.795delA	c.(793-795)CTAfs	p.L265fs		NM_000314	NP_000305	P60484	PTEN_HUMAN	phosphatase and tensin homolog	265	C2 tensin-type.			KMLKKDK->AAGAADA: Reduces the growth suppression activity and cells show anchorage-independent growth. Reduces binding to phospholipid membranes in vitro. Phosphatase activity towards PtdIns(3,4,5)P3 is not affected.	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.K267fs*9(4)|p.R55fs*1(4)|p.N212fs*1(2)|p.Y27fs*1(2)|p.M264fs*8(2)|p.G165_*404del(1)|p.?(1)|p.G165_K342del(1)|p.D268fs*30(1)		endometrium(831)|central_nervous_system(657)|skin(121)|haematopoietic_and_lymphoid_tissue(101)|large_intestine(99)|prostate(97)|breast(73)|lung(65)|ovary(58)|thyroid(29)|stomach(29)|upper_aerodigestive_tract(25)|cervix(24)|liver(20)|vulva(17)|kidney(15)|NS(14)|soft_tissue(13)|urinary_tract(12)|eye(8)|pancreas(6)|salivary_gland(5)|bone(5)|biliary_tract(4)|autonomic_ganglia(2)|meninges(2)|testis(1)|oesophagus(1)	2334		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		ACAAGATGCTAAAAAAGGTTT	0.348		31	D|Mis|N|F|S		glioma| prostate|endometrial	harmartoma|glioma| prostate|endometrial			Proteus_syndrome|Cowden_syndrome|Juvenile_Polyposis|Hereditary_Mixed_Polyposis_Syndrome_type_1|Bannayan-Riley-Ruvalcaba_syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)		
B4GALNT4	338707	broad.mit.edu	37	11	372694	372695	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr11:372694_372695insG	uc001lpb.2	+	3	297_298	c.288_289insG	c.(286-291)CCTGGGfs	p.P96fs		NM_178537	NP_848632	Q76KP1	B4GN4_HUMAN	beta	96_97	Lumenal (Potential).					Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity			pancreas(1)	1		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TGCTGTTTCCTGGGGGGGCTGG	0.604												
PAX6	5080	broad.mit.edu	37	11	31812317	31812317	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	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			
INTS4	92105	broad.mit.edu	37	11	77633436	77633436	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr11:77633436delA	uc001oys.2	-	13	1624	c.1596delT	c.(1594-1596)TTTfs	p.F532fs	INTS4_uc001oyt.2_RNA	NM_033547	NP_291025	Q96HW7	INT4_HUMAN	integrator complex subunit 4	532					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)			CAGCTGTGTCAAAAAATGGGT	0.507												
CCDC90B	60492	broad.mit.edu	37	11	82984691	82984691	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr11:82984691delT	uc001pae.2	-	7	955	c.593delA	c.(592-594)AAGfs	p.K198fs	CCDC90B_uc001pac.2_Frame_Shift_Del_p.K97fs|CCDC90B_uc001pad.2_Frame_Shift_Del_p.K97fs|CCDC90B_uc001paf.2_Frame_Shift_Del_p.K189fs	NM_021825	NP_068597	Q9GZT6	CC90B_HUMAN	coiled-coil domain containing 90B precursor	198						integral to membrane|mitochondrion|mitochondrion					0		Acute lymphoblastic leukemia(157;0.103)				TTACTTTACCTTTTTTGTAAA	0.274												
KDM4D	55693	broad.mit.edu	37	11	94731303	94731303	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr11:94731303delA	uc001pfe.2	+	3	1599	c.767delA	c.(766-768)GAAfs	p.E256fs		NM_018039	NP_060509	Q6B0I6	KDM4D_HUMAN	jumonji domain containing 2D	256	JmjC.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen				0						GTTCTCAAGGAAAATGGGATT	0.567												
CLDN25	644672	broad.mit.edu	37	11	113650551	113650551	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr11:113650551delG	uc009yyw.1	+	1	34	c.34delG	c.(34-36)GGGfs	p.G12fs		NM_001101389	NP_001094859	C9JDP6	CLD25_HUMAN	claudin 25	12	Helical; (Potential).					integral to membrane|tight junction	structural molecule activity				0						AGTCCAGCTCGGGGGGCTACT	0.552												
MLL2	8085	broad.mit.edu	37	12	49434936	49434936	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr12:49434936delG	uc001rta.3	-	31	6617	c.6617delC	c.(6616-6618)CCTfs	p.P2206fs		NM_003482	NP_003473	O14686	MLL2_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 2	2206	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						GGGCTGCGCAGGGGCCCCCGT	0.701			N|F|Mis		medulloblastoma|renal					HNSCC(34;0.089)		
TMBIM4	51643	broad.mit.edu	37	12	66539677	66539677	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr12:66539677delA	uc001stc.2	-	5	484	c.408delT	c.(406-408)TTTfs	p.F136fs	LLPH_uc010ssx.1_RNA|TMBIM4_uc001std.2_Frame_Shift_Del_p.F105fs|TMBIM4_uc009zqr.2_Frame_Shift_Del_p.F183fs|TMBIM4_uc001ste.2_RNA|TMBIM4_uc001stf.2_Frame_Shift_Del_p.F136fs|TMBIM4_uc009zqs.2_Frame_Shift_Del_p.F136fs	NM_016056	NP_057140	Q9HC24	TMBI4_HUMAN	transmembrane BAX inhibitor motif containing 4	136	Helical; (Potential).					integral to membrane	protein binding			ovary(1)|central_nervous_system(1)	2				GBM - Glioblastoma multiforme(28;0.0745)		CAGTCAAACCAAAAAATACTG	0.284												
HELB	92797	broad.mit.edu	37	12	66731962	66731962	+	RNA	DEL	A	A	-			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr12:66731962delA	uc010ssz.1	+	13		c.3448delA			HELB_uc009zqt.1_RNA			Q8NG08	HELB_HUMAN	Homo sapiens helicase B mRNA, complete cds.						DNA replication, synthesis of RNA primer		ATP binding|ATP-dependent 5'-3' DNA helicase activity|single-stranded DNA-dependent ATP-dependent DNA helicase activity			central_nervous_system(1)|pancreas(1)	2			GBM - Glioblastoma multiforme(2;0.000142)	GBM - Glioblastoma multiforme(28;0.0265)		GTACCAAGATAAAAAAAGTTT	0.294												
YEATS4	8089	broad.mit.edu	37	12	69784045	69784045	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr12:69784045delA	uc001sux.2	+	7	854	c.633delA	c.(631-633)TTAfs	p.L211fs		NM_006530	NP_006521	O95619	YETS4_HUMAN	glioma-amplified sequence-41	211	Interaction with MLLT10.|Potential.|Interaction with TACC1.				histone H2A acetylation|histone H4 acetylation|mitosis|positive regulation of transcription, DNA-dependent|regulation of growth	NuA4 histone acetyltransferase complex|nuclear matrix	DNA binding|protein C-terminus binding|sequence-specific DNA binding transcription factor activity|structural constituent of cytoskeleton				0	all_epithelial(5;9.25e-35)|Breast(13;9.83e-07)|Esophageal squamous(21;0.187)		Epithelial(6;6.89e-18)|BRCA - Breast invasive adenocarcinoma(5;3.14e-09)|Lung(24;9.68e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|OV - Ovarian serous cystadenocarcinoma(12;0.00691)|STAD - Stomach adenocarcinoma(21;0.0151)|LUSC - Lung squamous cell carcinoma(43;0.24)|Kidney(9;0.241)			TAAATTGTTTAAAAAATGAAA	0.323												
KIAA0284	283638	broad.mit.edu	37	14	105353063	105353063	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr14:105353063delC	uc010axb.2	+	12	2711	c.2487delC	c.(2485-2487)AGCfs	p.S829fs	INF2_uc010tyi.1_Intron|KIAA0284_uc001ypr.2_Frame_Shift_Del_p.S759fs|KIAA0284_uc001yps.2_Frame_Shift_Del_p.S735fs|KIAA0284_uc001ypt.2_5'Flank	NM_001112726	NP_001106197	Q9Y4F5	K0284_HUMAN	hypothetical protein LOC283638 isoform 1	829						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)		CCCAGCCCAGCCCCCCAGCAC	0.637												
FAM18A	780776	broad.mit.edu	37	16	10868933	10868933	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr16:10868933delA	uc010buo.1	-	3	381	c.110delT	c.(109-111)TTCfs	p.F37fs	FAM18A_uc010uyr.1_Intron|FAM18A_uc010uys.1_Intron|FAM18A_uc010uyt.1_RNA|FAM18A_uc010bun.2_RNA|FAM18A_uc010uyu.1_Intron|FAM18A_uc002dad.3_RNA|FAM18A_uc002daf.1_RNA|FAM18A_uc002dae.1_5'UTR	NM_001079512	NP_001072980	A6NH52	FA18A_HUMAN	hypothetical protein LOC780776	37	Helical; (Potential).					integral to membrane					0						AAACAGGTGGAAAAAGGTGGC	0.537												
CHD3	1107	broad.mit.edu	37	17	7794048	7794048	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr17:7794048delG	uc002gje.2	+	3	523	c.373delG	c.(373-375)GGGfs	p.G125fs	CHD3_uc002gjd.2_Frame_Shift_Del_p.G184fs|CHD3_uc002gjf.2_Frame_Shift_Del_p.G125fs|CHD3_uc002gjg.1_5'Flank	NM_001005273	NP_001005273	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	125				GEGDGG -> PHFQQK (in Ref. 4; AAC50228).	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|protein binding|zinc ion binding			breast(1)	1		Prostate(122;0.202)				GGAGGGAGATGGGGGGCAAAA	0.522												
KIAA1543	57662	broad.mit.edu	37	19	7676981	7676981	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr19:7676981delG	uc002mgv.3	+	11	1703	c.1602delG	c.(1600-1602)GTGfs	p.V534fs	KIAA1543_uc002mgu.3_Frame_Shift_Del_p.V561fs|KIAA1543_uc002mgw.2_5'Flank	NM_020902	NP_065953	Q9P1Y5	CAMP3_HUMAN	NEZHA isoform 2	534	Pro-rich.				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						CCTGTCTGGTGGGGGAGGCAT	0.637												
ACTL9	284382	broad.mit.edu	37	19	8808138	8808138	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr19:8808138delG	uc002mkl.2	-	1	1035	c.914delC	c.(913-915)CCAfs	p.P305fs		NM_178525	NP_848620	Q8TC94	ACTL9_HUMAN	actin-like 9	305						cytoplasm|cytoskeleton				large_intestine(2)|pancreas(1)	3						CGGGACCTCTGGGGGGTTGAA	0.647												
KLHL26	55295	broad.mit.edu	37	19	18779306	18779306	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr19:18779306delG	uc002njz.1	+	3	1126	c.1099delG	c.(1099-1101)GGGfs	p.G367fs		NM_018316	NP_060786	Q53HC5	KLH26_HUMAN	kelch-like 26	367	Kelch 2.									ovary(1)	1						GTACGTGGCCGGGGGGCAGCA	0.687												
ZNF638	27332	broad.mit.edu	37	2	71629145	71629147	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr2:71629145_71629147delAGA	uc002shx.2	+	16	3076_3078	c.2757_2759delAGA	c.(2755-2760)GTAGAA>GTA	p.E921del	ZNF638_uc010yqw.1_In_Frame_Del_p.E500del|ZNF638_uc002shy.2_In_Frame_Del_p.E921del|ZNF638_uc002shz.2_In_Frame_Del_p.E921del|ZNF638_uc002sia.2_In_Frame_Del_p.E921del|ZNF638_uc002sib.1_In_Frame_Del_p.E921del|ZNF638_uc010fed.2_RNA|ZNF638_uc002sic.2_In_Frame_Del_p.E18del	NM_014497	NP_055312	Q14966	ZN638_HUMAN	zinc finger protein 638	921	RRM 2.				RNA splicing	cytoplasm|nuclear speck	double-stranded DNA binding|nucleotide binding|RNA binding|zinc ion binding			pancreas(2)|ovary(1)|skin(1)	4						GATATTCTGTAGAAGAAGTTTAT	0.286												
RNF103	7844	broad.mit.edu	37	2	86831891	86831891	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr2:86831891delA	uc002srn.2	-	4	2102	c.1133delT	c.(1132-1134)TTAfs	p.L378fs	VPS24_uc010ytl.1_Intron|RNF103_uc002srm.2_Frame_Shift_Del_p.L239fs|uc002sro.2_Intron	NM_005667	NP_005658	O00237	RN103_HUMAN	ring finger protein 103	378	Helical; (Potential).				central nervous system development|ER-associated protein catabolic process	endoplasmic reticulum membrane|integral to membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding			central_nervous_system(1)	1						AGGTAGCTGTAAAAAGCCCAA	0.378												
GCC2	9648	broad.mit.edu	37	2	109089309	109089309	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr2:109089309delA	uc002tec.2	+	7	2968	c.2814delA	c.(2812-2814)GTAfs	p.V938fs	GCC2_uc002ted.2_Frame_Shift_Del_p.V837fs	NM_181453	NP_852118	Q8IWJ2	GCC2_HUMAN	GRIP and coiled-coil domain-containing 2	938	Potential.				Golgi ribbon formation|late endosome to Golgi transport|microtubule anchoring|microtubule organizing center organization|protein localization in Golgi apparatus|protein targeting to lysosome|recycling endosome to Golgi transport|regulation of protein exit from endoplasmic reticulum	membrane|trans-Golgi network	identical protein binding			ovary(1)	1						CACCTTCTGTAAAAAATGATC	0.308												
COL3A1	1281	broad.mit.edu	37	2	189861201	189861201	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr2:189861201delC	uc002uqj.1	+	24	1857	c.1740delC	c.(1738-1740)TTCfs	p.F580fs		NM_000090	NP_000081	P02461	CO3A1_HUMAN	collagen type III alpha 1 preproprotein	580	Triple-helical region.				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding			central_nervous_system(7)|ovary(4)|large_intestine(2)	13			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	TCATGGGCTTCCCCGGTCCTA	0.423												
SLC4A3	6508	broad.mit.edu	37	2	220497729	220497729	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr2:220497729delC	uc002vmp.3	+	9	1544	c.1275delC	c.(1273-1275)CACfs	p.H425fs	SLC4A3_uc002vmo.3_Frame_Shift_Del_p.H452fs|SLC4A3_uc010fwm.2_5'UTR|SLC4A3_uc010fwn.1_5'UTR	NM_005070	NP_005061	P48751	B3A3_HUMAN	solute carrier family 4, anion exchanger, member	425	Cytoplasmic.				bicarbonate transport	integral to plasma membrane|membrane fraction	inorganic anion exchanger activity			ovary(2)|upper_aerodigestive_tract(1)|breast(1)|skin(1)	5		Renal(207;0.0183)		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TACTGAAGCACAGGTGCCGGG	0.512												
HNF4A	3172	broad.mit.edu	37	20	43047140	43047140	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr20:43047140delG	uc002xma.2	+	6	813	c.724delG	c.(724-726)GTGfs	p.V242fs	HNF4A_uc002xlt.2_Frame_Shift_Del_p.V220fs|HNF4A_uc002xlu.2_Frame_Shift_Del_p.V220fs|HNF4A_uc002xlv.2_Frame_Shift_Del_p.V220fs|HNF4A_uc002xly.2_Frame_Shift_Del_p.V242fs|HNF4A_uc002xlz.2_Frame_Shift_Del_p.V242fs|HNF4A_uc010ggq.2_Frame_Shift_Del_p.V235fs	NM_000457	NP_000448	P41235	HNF4A_HUMAN	hepatocyte nuclear factor 4 alpha isoform b	242					blood coagulation|endocrine pancreas development|glucose homeostasis|negative regulation of cell growth|negative regulation of cell proliferation|ornithine metabolic process|phospholipid homeostasis|positive regulation of cholesterol homeostasis|regulation of growth hormone receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to glucose stimulus|triglyceride homeostasis|xenobiotic metabolic process	cytoplasm	activating transcription factor binding|protein homodimerization activity|receptor binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding			ovary(1)|lung(1)|skin(1)	3		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			GTTCAAGGACGTGCTGCTCCT	0.607												
KCNQ2	3785	broad.mit.edu	37	20	62038661	62038661	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr20:62038661delG	uc002yey.1	-	17	2132	c.1955delC	c.(1954-1956)CCGfs	p.P652fs	KCNQ2_uc002yez.1_Frame_Shift_Del_p.P621fs|KCNQ2_uc002yfa.1_Frame_Shift_Del_p.P634fs|KCNQ2_uc002yfb.1_Frame_Shift_Del_p.P624fs	NM_172107	NP_742105	O43526	KCNQ2_HUMAN	potassium voltage-gated channel KQT-like protein	652	Cytoplasmic (Potential).				axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			upper_aerodigestive_tract(1)|ovary(1)	2	all_cancers(38;1.24e-11)		BRCA - Breast invasive adenocarcinoma(10;1.04e-05)		Amitriptyline(DB00321)	GGTCTCTGTCGGGGGGATGCC	0.642												
PLAC4	191585	broad.mit.edu	37	21	42551242	42551243	+	Frame_Shift_Del	DEL	GA	GA	-			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr21:42551242_42551243delGA	uc002yyz.2	-	1	5924_5925	c.313_314delTC	c.(313-315)TCAfs	p.S105fs	BACE2_uc002yyw.2_Intron|BACE2_uc002yyx.2_Intron|BACE2_uc002yyy.2_Intron	NM_182832	NP_878252	Q8WY50	PLAC4_HUMAN	placenta-specific 4	105											0		Prostate(19;2.29e-06)				cagggtgagtgagagtgtccag	0.079												
COL18A1	80781	broad.mit.edu	37	21	46917558	46917559	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr21:46917558_46917559insC	uc011afs.1	+	31	3932_3933	c.3911_3912insC	c.(3910-3912)GGCfs	p.G1304fs	COL18A1_uc002zhg.2_Frame_Shift_Ins_p.G889fs|COL18A1_uc002zhi.2_Frame_Shift_Ins_p.G1069fs	NM_130444	NP_569711	P39060	COIA1_HUMAN	alpha 1 type XVIII collagen isoform 3 precursor	1304	Triple-helical region 7 (COL7).				cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception	collagen|extracellular space	extracellular matrix structural constituent|metal ion binding|protein binding			central_nervous_system(1)	1				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		GGAGAAGTGGGCCCCCCCGGAC	0.639												
EPHA6	285220	broad.mit.edu	37	3	96533752	96533752	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr3:96533752delG	uc010how.1	+	1	328	c.285delG	c.(283-285)ATGfs	p.M95fs	EPHA6_uc003drp.1_Frame_Shift_Del_p.M95fs	NM_001080448	NP_001073917	Q9UF33	EPHA6_HUMAN	EPH receptor A6 isoform a	1						integral to plasma membrane	ATP binding|ephrin receptor activity			stomach(5)|lung(4)|central_nervous_system(3)|breast(1)|skin(1)|ovary(1)|kidney(1)	16						GGAGAACCATGGGGGGCTGCG	0.542												
RGS12	6002	broad.mit.edu	37	4	3319285	3319285	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr4:3319285delG	uc003ggw.2	+	2	2292	c.1388delG	c.(1387-1389)AGGfs	p.R463fs	RGS12_uc003ggu.2_Frame_Shift_Del_p.R463fs|RGS12_uc010ics.1_Intron|RGS12_uc011bvr.1_RNA|RGS12_uc003ggv.2_Frame_Shift_Del_p.R463fs|RGS12_uc003ggx.1_Frame_Shift_Del_p.R463fs	NM_198229	NP_937872	O14924	RGS12_HUMAN	regulator of G-protein signalling 12 isoform 1	463						condensed nuclear chromosome|cytoplasm|plasma membrane	GTPase activator activity|receptor signaling protein activity			skin(1)	1				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		GTGGGTGGGAGGGGTGCCCAG	0.687												
MFSD8	256471	broad.mit.edu	37	4	128861148	128861148	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr4:128861148delA	uc003ifp.2	-	7	721	c.558delT	c.(556-558)TTTfs	p.F186fs	MFSD8_uc011cgu.1_Frame_Shift_Del_p.F141fs|MFSD8_uc011cgv.1_Frame_Shift_Del_p.F148fs|MFSD8_uc011cgw.1_RNA|MFSD8_uc011cgx.1_Intron	NM_152778	NP_689991	Q8NHS3	MFSD8_HUMAN	major facilitator superfamily domain containing	186	Helical; (Potential).				cell death|transmembrane transport	integral to membrane|lysosomal membrane				ovary(1)|liver(1)	2						AACAAGTCTGAAAAACTTATT	0.308												
DYNLT1	6993	broad.mit.edu	37	6	159062373	159062375	+	In_Frame_Del	DEL	TCA	TCA	-			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr6:159062373_159062375delTCA	uc003qrn.1	-	2	45_47	c.45_47delTGA	c.(43-48)GATGAA>GAA	p.D15del		NM_006519	NP_006510	P63172	DYLT1_HUMAN	dynein, light chain, Tctex-type 1	15					cell division|establishment of mitotic spindle orientation|intracellular transport of viral proteins in host cell|mitosis|negative regulation of neurogenesis|regulation of G-protein coupled receptor protein signaling pathway	cytoplasmic dynein complex|Golgi apparatus|microtubule|spindle	identical protein binding|motor activity				0		Breast(66;0.00519)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;4.02e-18)|BRCA - Breast invasive adenocarcinoma(81;9.53e-06)		GTTGCTCACTTCATCAACAACAA	0.286												
KCNQ3	3786	broad.mit.edu	37	8	133141659	133141659	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr8:133141659delC	uc003ytj.2	-	15	2694	c.2469delG	c.(2467-2469)GGGfs	p.G823fs	KCNQ3_uc010mdt.2_Frame_Shift_Del_p.G811fs|uc003yti.2_5'Flank	NM_004519	NP_004510	O43525	KCNQ3_HUMAN	potassium voltage-gated channel KQT-like protein	823					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)			TCCAGCTCGACCCCCCATTGG	0.612												
JAK2	3717	broad.mit.edu	37	9	5066768	5066768	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr9:5066768delT	uc010mhm.2	+	9	1418	c.1305delT	c.(1303-1305)TATfs	p.Y435fs	JAK2_uc003ziw.2_Frame_Shift_Del_p.Y435fs	NM_004972	NP_004963	O60674	JAK2_HUMAN	Janus kinase 2	435	SH2; atypical.				actin filament polymerization|activation of caspase activity by protein phosphorylation|activation of JAK2 kinase activity|blood coagulation|cellular component movement|erythrocyte differentiation|interferon-gamma-mediated signaling pathway|interleukin-12-mediated signaling pathway|JAK-STAT cascade involved in growth hormone signaling pathway|mammary gland epithelium development|mesoderm development|negative regulation of cell proliferation|negative regulation of DNA binding|positive regulation of apoptosis|positive regulation of cell-substrate adhesion|positive regulation of growth hormone receptor signaling pathway|positive regulation of nitric-oxide synthase 2 biosynthetic process|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|protein autophosphorylation|regulation of inflammatory response|regulation of interferon-gamma-mediated signaling pathway|response to antibiotic|response to lipopolysaccharide|STAT protein import into nucleus|tumor necrosis factor-mediated signaling pathway|tyrosine phosphorylation of STAT protein	caveola|cytoskeleton|cytosol|endomembrane system|nucleus	ATP binding|growth hormone receptor binding|heme binding|histone binding|histone kinase activity (H3-Y41 specific)|interleukin-12 receptor binding|non-membrane spanning protein tyrosine kinase activity|protein kinase binding|SH2 domain binding		PCM1/JAK2(30)|PAX5/JAK2(18)|ETV6/JAK2(11)|BCR/JAK2(6)|SSBP2/JAK2(4)|SEC31A/JAK2(4)	haematopoietic_and_lymphoid_tissue(28629)|lung(5)|breast(5)|ovary(1)|liver(1)	28641	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0198)|Breast(48;0.147)		GBM - Glioblastoma multiforme(50;0.0237)|Lung(218;0.133)		TTAATAAATATTTTTTGACTT	0.323		1	T|Mis|O	ETV6|PCM1|BCR	ALL|AML|MPD| CML				Polycythemia_Vera_Familial			
COL27A1	85301	broad.mit.edu	37	9	117008145	117008145	+	Splice_Site	DEL	G	G	-			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr9:117008145delG	uc011lxl.1	+	24	2935	c.2935_splice	c.e24-1	p.G979_splice	COL27A1_uc004bii.2_Splice_Site	NM_032888	NP_116277	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1 precursor						cell adhesion		extracellular matrix structural constituent			ovary(3)|skin(1)	4						TCTCTTTGCAGGGGGAACCAG	0.517												
C9orf86	55684	broad.mit.edu	37	9	139734212	139734212	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr9:139734212delC	uc004cji.1	+	13	2093	c.1825delC	c.(1825-1827)CCCfs	p.P609fs	C9orf86_uc004cjj.1_Frame_Shift_Del_p.P610fs|C9orf86_uc004cjk.1_RNA|C9orf86_uc010nbr.1_Intron|C9orf86_uc004cjl.1_RNA|C9orf86_uc010nbs.1_Frame_Shift_Del_p.P494fs|C9orf86_uc004cjn.1_Frame_Shift_Del_p.P403fs	NM_024718	NP_078994	Q3YEC7	PARF_HUMAN	Rab-like GTP-binding protein 1 isoform 1	609					small GTPase mediated signal transduction	cytoplasm|nucleus	GTP binding|protein binding				0	all_cancers(76;0.0763)|all_epithelial(76;0.198)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.61e-05)|Epithelial(140;0.000183)		TGCCGAGCCGCCCCCACCCCC	0.642												
MAOB	4129	broad.mit.edu	37	X	43741511	43741511	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chrX:43741511delC	uc004dfz.3	-	1	211	c.35delG	c.(34-36)GGCfs	p.G12fs	MAOB_uc011mky.1_5'UTR|MAOB_uc010nhj.2_Frame_Shift_Del_p.G12fs	NM_000898	NP_000889	P27338	AOFB_HUMAN	monoamine oxidase B	12	Cytoplasmic.				xenobiotic metabolic process	integral to membrane|mitochondrial outer membrane	electron carrier activity|primary amine oxidase activity			ovary(1)|central_nervous_system(1)	2					Amantadine(DB00915)|Bupropion(DB01156)|Carbidopa(DB00190)|Citalopram(DB00215)|Dopamine(DB00988)|Entacapone(DB00494)|Furazolidone(DB00614)|Ginkgo biloba(DB01381)|Ibuprofen(DB01050)|Imipramine(DB00458)|Iproniazid(DB04818)|Isocarboxazid(DB01247)|Levodopa(DB01235)|Maprotiline(DB00934)|Meclizine(DB00737)|Moclobemide(DB01171)|Nicotine(DB00184)|Pargyline(DB01626)|Phenelzine(DB00780)|Phentermine(DB00191)|Rasagiline(DB01367)|Selegiline(DB01037)|Tranylcypromine(DB00752)	TGAGATGCCGCCCCCCACCAC	0.697												
PADI3	51702	broad.mit.edu	37	1	17607262	17607262	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr1:17607261_17607261GA>G	uc001bai.3	+	14	1771	c.1731_1731GA>G	c.(1729-1731)aggfs	p.R577fs		NM_016233	NP_057317	Q9ULW8	PADI3_HUMAN	Homo sapiens peptidyl arginine deiminase, type III (PADI3), mRNA.	577					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|liver(2)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		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)	AGACCGAGAGGAAAAAAGCAA	0.542												
PADI4	23569	broad.mit.edu	37	1	17666222	17666222	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr1:17666221_17666221AC>A	uc001baj.2	+	5	593	c.565_565AC>A	c.(565-567)accfs	p.T189fs	PADI4_uc009vpc.2_Frame_Shift_Del_p.T189fs	NM_012387	NP_036519	Q9UM07	PADI4_HUMAN	Homo sapiens peptidyl arginine deiminase, type IV (PADI4), mRNA.	189					chromatin modification|peptidyl-citrulline biosynthetic process from peptidyl-arginine|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calcium ion binding|protein-arginine deiminase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(2)|urinary_tract(3)	26		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000338)|Lung NSC(340;0.00042)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00537)|BRCA - Breast invasive adenocarcinoma(304;8.54e-06)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(64;0.000223)|KIRC - Kidney renal clear cell carcinoma(64;0.00313)|STAD - Stomach adenocarcinoma(196;0.00707)|READ - Rectum adenocarcinoma(331;0.0689)|Lung(427;0.199)	L-Citrulline(DB00155)	GAGCACGAAGACCCCCAAGGA	0.567												
UBR4	23352	broad.mit.edu	37	1	19467923	19467923	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr1:19467922_19467922TG>T	uc001bbi.3	-	56	8411	c.8407_8407CA>A	c.(8407-8409)atgfs	p.M2803fs	UBR4_uc001bbk.1_Frame_Shift_Del_p.M485fs	NM_020765	NP_065816	Q5T4S7	UBR4_HUMAN	Homo sapiens ubiquitin protein ligase E3 component n-recognin 4 (UBR4), mRNA.	2803					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		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)		ATGTCCAGCATGGGGGGGAAG	0.587												
WDTC1	23038	broad.mit.edu	37	1	27621108	27621109	+	Frame_Shift_Ins	INS	-	-	G	rs145339479		TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr1:27621107_27621108T>TG	uc009vst.2	+	8	1395_1396	c.860_861T>TG	c.(859-861)atgfs	p.M287fs	WDTC1_uc001bno.3_Frame_Shift_Ins_p.M287fs|WDTC1_uc001bnp.1_Non-coding_Transcript|WDTC1_uc001bnq.3_5'Flank	NM_015023	NP_055838	Q8N5D0	WDTC1_HUMAN	Homo sapiens WD and tetratricopeptide repeats 1 (WDTC1), mRNA.	287							protein binding			central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|skin(1)	21		all_cancers(24;3.12e-19)|all_epithelial(13;4.18e-18)|Colorectal(325;0.000147)|all_lung(284;0.000366)|Lung NSC(340;0.000548)|Renal(390;0.00211)|Breast(348;0.00257)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0443)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;1.02e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000544)|KIRC - Kidney renal clear cell carcinoma(1967;0.00201)|STAD - Stomach adenocarcinoma(196;0.00321)|READ - Rectum adenocarcinoma(331;0.0476)		CTAGTCAACATGGGGGGGGAAC	0.540												
GRIK3	2899	broad.mit.edu	37	1	37346391	37346392	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr1:37346390_37346391T>TG	uc001caz.2	-	2	529_530	c.394_395A>CA	c.(394-396)cacfs	p.H132fs	GRIK3_uc001cba.1_Frame_Shift_Ins_p.H132fs	NM_000831	NP_000822	Q13003	GRIK3_HUMAN	Homo sapiens glutamate receptor, ionotropic, kainate 3 (GRIK3), mRNA.	132					negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	G-protein-coupled receptor binding|adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	p.H132N(2)|p.P131P(1)		breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)			L-Glutamic Acid(DB00142)	CAGCTGGATGTGGGGCACCTCC	0.624												
NASP	4678	broad.mit.edu	37	1	46073055	46073055	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr1:46073054_46073054CA>C	uc001coi.2	+	5	630	c.471_471CA>C	c.(469-471)gccfs	p.A157fs	NASP_uc010olq.2_Frame_Shift_Del_p.A120fs|NASP_uc021omz.1_Frame_Shift_Del_p.A159fs|NASP_uc001coj.2_Intron|NASP_uc010olr.2_Frame_Shift_Del_p.A93fs|NASP_uc001cok.2_Frame_Shift_Del_p.A40fs	NM_002482	NP_002473	P49321	NASP_HUMAN	Homo sapiens nuclear autoantigenic sperm protein (histone-binding) (NASP), transcript variant 2, mRNA.	157	Glu-rich (acidic).				DNA replication|blastocyst development|cell cycle|cell proliferation|histone exchange|protein transport	cytoplasm|nucleus	Hsp90 protein binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	17	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.211)					AAGAAGAAGCCAAAAAAACAG	0.393												
C1orf168	199920	broad.mit.edu	37	1	57258099	57258099	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr1:57258098_57258098CT>C	uc001cym.4	-	1	794	c.388_388AG>G	c.(388-390)gtafs	p.V130fs	C1orf168_uc009vzu.1_Non-coding_Transcript|C1orf168_uc009vzv.1_Frame_Shift_Del_p.V130fs	NM_001004303	NP_001004303	Q5VWT5	CA168_HUMAN	Homo sapiens chromosome 1 open reading frame 168 (C1orf168), mRNA.	130										NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|skin(6)|stomach(1)|urinary_tract(2)	46						GCCACCATTACTTTTTCCTTA	0.418												
CHI3L2	1117	broad.mit.edu	37	1	111781482	111781482	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr1:111781481_111781481TG>T	uc001eam.3	+	7	916	c.845_845TG>T	c.(844-846)gtgfs	p.V282fs	CHI3L2_uc001ean.3_Frame_Shift_Del_p.V272fs|CHI3L2_uc001eao.3_Frame_Shift_Del_p.V203fs	NM_004000	NP_001020370	Q15782	CH3L2_HUMAN	Homo sapiens chitinase 3-like 2 (CHI3L2), transcript variant 1, mRNA.	282					chitin catabolic process	extracellular space	cation binding|chitinase activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(8)|prostate(1)	19		all_cancers(81;1.89e-05)|all_epithelial(167;7.36e-06)|all_lung(203;0.00018)|Lung NSC(277;0.000359)		Lung(183;0.0171)|Colorectal(144;0.0387)|all cancers(265;0.0464)|LUSC - Lung squamous cell carcinoma(189;0.0872)|Epithelial(280;0.0994)|COAD - Colon adenocarcinoma(174;0.141)		GAAACCACCGTGGGGGCCCCT	0.582												
PHTF1	10745	broad.mit.edu	37	1	114248546	114248547	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr1:114248545_114248546G>GA	uc009wgp.1	-	11	2089_2090	c.1637_1638C>TC	c.(1636-1638)ttcfs	p.F546fs	PHTF1_uc001edn.3_Frame_Shift_Ins_p.F546fs|PHTF1_uc001edm.2_Frame_Shift_Ins_p.F303fs|PHTF1_uc001edo.1_Frame_Shift_Ins_p.F303fs	NM_006608	NP_006599	Q9UMS5	PHTF1_HUMAN	Homo sapiens putative homeodomain transcription factor 1 (PHTF1), mRNA.	546						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CACACATCATGAAAAAAAACAT	0.327												
PIAS3	10401	broad.mit.edu	37	1	145580195	145580195	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr1:145580194_145580194CT>C	uc001eoc.1	+	5	767	c.676_676CT>C	c.(676-678)cttfs	p.L226fs	PIAS3_uc010oyy.1_Frame_Shift_Del_p.L217fs|PIAS3_uc001eod.1_5'Flank	NM_006099	NP_006090	Q9Y6X2	PIAS3_HUMAN	Homo sapiens protein inhibitor of activated STAT, 3 (PIAS3), mRNA.	226	PINIT.				positive regulation of protein sumoylation|protein sumoylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck	enzyme binding|nucleic acid binding|protein C-terminus binding|zinc ion binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)	28	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					CCAGGGTTACCTTCCCCCAAC	0.557												
ADAMTSL4	54507	broad.mit.edu	37	1	150529494	150529494	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr1:150529493_150529493AC>A	uc009wlw.3	+	10	2055	c.1897_1897AC>A	c.(1897-1899)accfs	p.T633fs	ADAMTSL4_uc001euw.3_Frame_Shift_Del_p.T610fs|ADAMTSL4_uc001eux.3_Frame_Shift_Del_p.T610fs|ADAMTSL4_uc010pcg.2_Intron|ADAMTSL4_uc009wlx.3_5'Flank	NM_019032	NP_061905	Q6UY14	ATL4_HUMAN	Homo sapiens ADAMTS-like 4 (ADAMTSL4), transcript variant 1, mRNA.	610	Pro-rich.				apoptosis|positive regulation of apoptosis		metalloendopeptidase activity|protease binding			breast(1)|cervix(1)|endometrium(6)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(3)	32	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			TGAGAACCCCACCCCAGAGCC	0.567												
ADAR	103	broad.mit.edu	37	1	154557360	154557360	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr1:154557359_154557359CT>C	uc001ffh.3	-	14	3846	c.3604_3604AG>G	c.(3604-3606)ggcfs	p.G1202fs	ADAR_uc021pag.1_Frame_Shift_Del_p.G907fs|ADAR_uc001ffj.3_Frame_Shift_Del_p.G1157fs|ADAR_uc001ffi.3_Frame_Shift_Del_p.G1176fs|ADAR_uc001ffk.3_Frame_Shift_Del_p.G907fs	NM_001111	NP_001180424	P55265	DSRAD_HUMAN	Homo sapiens adenosine deaminase, RNA-specific (ADAR), transcript variant 1, mRNA.	1202	A to I editase.				adenosine to inosine editing|gene silencing by RNA|mRNA modification|mRNA processing|type I interferon-mediated signaling pathway	cytoplasm|nucleolus|nucleoplasm	DNA binding|double-stranded RNA adenosine deaminase activity|metal ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(4)|prostate(2)|skin(2)	51	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997)		LUSC - Lung squamous cell carcinoma(543;0.185)	Colorectal(1306;0.115)		TCCTTCAGGCCTTTTTTGAAG	0.493												
ASH1L	55870	broad.mit.edu	37	1	155449753	155449753	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr1:155449752_155449752AT>A	uc009wqq.3	-	2	3389	c.2909_2909AT>T	c.(2908-2910)attfs	p.I970fs	ASH1L_uc001fkt.3_Frame_Shift_Del_p.I970fs|ASH1L_uc009wqr.1_Frame_Shift_Del_p.I970fs	NM_018489	NP_060959	Q9NR48	ASH1L_HUMAN	Homo sapiens ash1 (absent, small, or homeotic)-like (Drosophila) (ASH1L), mRNA.	970					DNA packaging|cell-cell signaling|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi apparatus|chromosome|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	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)			TCTCTTGGTAATTTTTTTATC	0.353												
ASH1L	55870	broad.mit.edu	37	1	155450116	155450116	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr1:155450115_155450115AT>A	uc009wqq.3	-	2	3026	c.2546_2546AT>T	c.(2545-2547)atcfs	p.I849fs	ASH1L_uc001fkt.3_Frame_Shift_Del_p.I849fs|ASH1L_uc009wqr.1_Frame_Shift_Del_p.I849fs	NM_018489	NP_060959	Q9NR48	ASH1L_HUMAN	Homo sapiens ash1 (absent, small, or homeotic)-like (Drosophila) (ASH1L), mRNA.	849					DNA packaging|cell-cell signaling|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi apparatus|chromosome|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	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)			AGAAGCAGGGATTTTTAAAGT	0.398												
GPR161	23432	broad.mit.edu	37	1	168054869	168054869	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr1:168054868_168054868GC>G	uc010pln.2	-	6	2085	c.1551_1551GC>C	c.(1549-1551)ggcfs	p.G517fs	GPR161_uc001gfb.3_Frame_Shift_Del_p.G365fs|GPR161_uc001gfc.3_Frame_Shift_Del_p.G497fs|GPR161_uc010pll.2_Frame_Shift_Del_p.G407fs|GPR161_uc010plm.2_Frame_Shift_Del_p.G383fs|GPR161_uc009wvo.3_Frame_Shift_Del_p.G514fs|GPR161_uc001gfd.3_Frame_Shift_Del_p.G497fs	NM_153832	NP_722561	Q8N6U8	GP161_HUMAN	Homo sapiens G protein-coupled receptor 161 (GPR161), transcript variant 2, mRNA.	497					multicellular organismal development	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|skin(1)	26	all_hematologic(923;0.215)					CCCCGAAGCCGCCCCCCGGGA	0.582												
F5	2153	broad.mit.edu	37	1	169494110	169494112	+	In_Frame_Del	DEL	ATG	ATG	-			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr1:169494109_169494111TATG>T	uc001ggg.1	-	18	5897_5899	c.5752_5754CATA>A	c.(5752-5754)ata>A	p.I1918del		NM_000130	NP_000121	P12259	FA5_HUMAN	Homo sapiens coagulation factor V (proaccelerin, labile factor) (F5), mRNA.	1918	F5/8 type C 1.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	GTGAATCAGATATGATACCAGTG	0.374												
NCF2	4688	broad.mit.edu	37	1	183533152	183533152	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr1:183533151_183533151CT>C	uc001gqj.4	-	10	1290	c.1015_1015AG>G	c.(1015-1017)gaafs	p.E339fs	NCF2_uc010pod.2_Frame_Shift_Del_p.E294fs|NCF2_uc010poe.2_Frame_Shift_Del_p.E258fs|NCF2_uc001gqk.4_Frame_Shift_Del_p.E339fs	NM_000433	NP_001121123	P19878	NCF2_HUMAN	Homo sapiens neutrophil cytosolic factor 2 (NCF2), transcript variant 1, mRNA.	339					cellular defense response|innate immune response|respiratory burst|superoxide anion generation	NADPH oxidase complex|nucleolus	electron carrier activity|protein C-terminus binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30						TTAGGCTCTTCTTTTTGTTTC	0.433												
RGL1	23179	broad.mit.edu	37	1	183857685	183857685	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr1:183857684_183857684TA>T	uc001gqm.3	+	8	1594	c.1133_1133TA>T	c.(1132-1134)ttafs	p.L378fs	RGL1_uc010pof.1_Frame_Shift_Del_p.L148fs|RGL1_uc010pog.2_Frame_Shift_Del_p.L341fs|RGL1_uc010poh.2_Frame_Shift_Del_p.L341fs|RGL1_uc001gqo.3_Frame_Shift_Del_p.L343fs|RGL1_uc010poi.2_Frame_Shift_Del_p.L343fs	NM_015149	NP_055964	Q9NZL6	RGL1_HUMAN	Homo sapiens ral guanine nucleotide dissociation stimulator-like 1 (RGL1), mRNA.	343	Ras-GEF.				cellular lipid metabolic process|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	Ral guanyl-nucleotide exchange factor activity|protein binding			breast(5)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(17)|ovary(4)|prostate(3)|stomach(1)	51						ATCTATCGGTTAAAAAAGACT	0.458												
CACNA1S	779	broad.mit.edu	37	1	201079310	201079312	+	In_Frame_Del	DEL	GTT	GTT	-			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr1:201079309_201079311AGTT>A	uc001gvv.3	-	1	466_468	c.239_241AACT>T	c.(238-243)aactct>aTct	p.80_81NS>I		NM_000069	NP_000060	Q13698	CAC1S_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1S subunit (CACNA1S), mRNA.	80					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)	AGGTTCAGAGAGTTGTTGTCATC	0.601												
CR2	1380	broad.mit.edu	37	1	207642044	207642044	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr1:207642043_207642043TC>T	uc001hfw.3	+	2	736	c.617_617TC>T	c.(616-618)gtcfs	p.V206fs	CR2_uc001hfv.3_Frame_Shift_Del_p.V206fs|CR2_uc009xch.3_Frame_Shift_Del_p.V206fs|CR2_uc009xci.1_5'Flank	NM_001877	NP_001868	P20023	CR2_HUMAN	Homo sapiens complement component (3d/Epstein Barr virus) receptor 2 (CR2), transcript variant 2, mRNA.	206	Sushi 3.				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity			NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						TGGAGTGCTGTCCCCCCCACA	0.393												
MIA3	375056	broad.mit.edu	37	1	222832844	222832845	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr1:222832843_222832844A>AT	uc001hnl.3	+	19	4767_4768	c.4758_4759A>AT	c.(4756-4761)tcatttfs	p.S1586fs	MIA3_uc001hnm.3_Frame_Shift_Ins_p.S464fs	NM_198551	NP_940953	Q5JRA6	MIA3_HUMAN	Homo sapiens melanoma inhibitory activity family, member 3 (MIA3), mRNA.	1586					exocytosis|negative regulation of cell adhesion|negative regulation of cell migration|positive regulation of leukocyte migration|protein transport|wound healing	endoplasmic reticulum membrane|integral to membrane	protein binding			breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1)	80				GBM - Glioblastoma multiforme(131;0.0199)		CAGAGCGGTCATTTAAAAACCA	0.342												
SLC35F3	148641	broad.mit.edu	37	1	234444893	234444893	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr1:234444892_234444892GT>G	uc001hvy.1	+	3	799	c.654_654GT>G	c.(652-654)gtgfs	p.V218fs	SLC35F3_uc001hwa.1_Frame_Shift_Del_p.V149fs	NM_173508	NP_775779	Q8IY50	S35F3_HUMAN	Homo sapiens solute carrier family 35, member F3 (SLC35F3), mRNA.	149					transport	integral to membrane				breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|urinary_tract(1)	32	Ovarian(103;0.0454)	all_cancers(173;0.145)|Prostate(94;0.0885)	OV - Ovarian serous cystadenocarcinoma(106;0.00531)			CTTTGAAGGTGTTTTTTACCA	0.408												
PGBD2	267002	broad.mit.edu	37	1	249211828	249211828	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr1:249211827_249211827AT>A	uc001ifh.3	+	2	1191	c.1044_1044AT>A	c.(1042-1044)atafs	p.I348fs	PGBD2_uc001ifg.3_Frame_Shift_Del_p.I97fs|PGBD2_uc009xhd.3_Frame_Shift_Del_p.I345fs|PGBD2_uc021pmh.1_Frame_Shift_Del_p.I97fs	NM_170725	NP_001017434	Q6P3X8	PGBD2_HUMAN	Homo sapiens piggyBac transposable element derived 2 (PGBD2), transcript variant 1, mRNA.	348										NS(1)|endometrium(3)|lung(6)|ovary(1)|skin(3)	14	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;0.012)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			CATATCACATATTTTTTGACA	0.438												
ASXL2	55252	broad.mit.edu	37	2	25965741	25965742	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr2:25965740_25965741T>TG	uc002rgs.2	-	11	3686_3687	c.3465_3466A>CA	c.(3463-3468)cccactfs	p.P1155fs	ASXL2_uc002rgt.1_Frame_Shift_Ins_p.P638fs	NM_018263	NP_060733	Q76L83	ASXL2_HUMAN	Homo sapiens additional sex combs like 2 (Drosophila) (ASXL2), mRNA.	1155					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3)	33	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AAGGCTTCAGTGGGGCTGCTTA	0.455												
SCN3A	6328	broad.mit.edu	37	2	165947618	165947618	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr2:165947617_165947617CT>C	uc002ucx.3	-	27	5538	c.5046_5046AG>G	c.(5044-5046)aagfs	p.K1682fs	SCN3A_uc010zcy.2_Frame_Shift_Del_p.K165fs|SCN3A_uc002ucy.3_Frame_Shift_Del_p.K1633fs|SCN3A_uc002ucz.3_Frame_Shift_Del_p.K1633fs	NM_006922	NP_008853	Q9NY46	SCN3A_HUMAN	Homo sapiens sodium channel, voltage-gated, type III, alpha subunit (SCN3A), transcript variant 1, mRNA.	1682						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	TTCCAGCTTCCTTTTTAACAT	0.448												
DHRS9	10170	broad.mit.edu	37	2	169948389	169948390	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr2:169948388_169948389G>GA	uc010zdc.2	+	3	953_954	c.841_842G>GA	c.(841-843)gaafs	p.E281fs	DHRS9_uc002uep.3_Frame_Shift_Ins_p.E221fs|DHRS9_uc002ueq.3_Frame_Shift_Ins_p.E221fs|DHRS9_uc010zdd.2_Frame_Shift_Ins_p.E221fs|DHRS9_uc010zde.2_Frame_Shift_Ins_p.E221fs	NM_199204	NP_954674	Q9BPW9	DHRS9_HUMAN	Homo sapiens dehydrogenase/reductase (SDR family) member 9 (DHRS9), transcript variant 2, mRNA.	221					9-cis-retinoic acid biosynthetic process|androgen metabolic process|epithelial cell differentiation|progesterone metabolic process|retinol metabolic process	integral to endoplasmic reticulum membrane|microsome	alcohol dehydrogenase (NAD) activity|binding|racemase and epimerase activity|retinol dehydrogenase activity|testosterone dehydrogenase (NAD+) activity			breast(1)|endometrium(3)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	13						AAAGGTAATTGAAAAAAAACTC	0.426												
KBTBD10	10324	broad.mit.edu	37	2	170366496	170366497	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr2:170366495_170366496G>GA	uc002ueu.1	+	0	284_285	c.207_208G>GA	c.(205-210)gcgaaafs	p.A69fs	KBTBD10_uc010zdh.1_Intron	NM_006063	NP_006054	O60662	KBTBA_HUMAN	Homo sapiens kelch repeat and BTB (POZ) domain containing 10 (KBTBD10), mRNA.	69	BTB.				striated muscle contraction	centrosome|nucleolus|plasma membrane|pseudopodium|ruffle		p.A69V(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|urinary_tract(1)	19						TTGATGAGGCGAAAAAAAAGGA	0.391												
GAD1	2571	broad.mit.edu	37	2	171702523	171702523	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr2:171702522_171702522GA>G	uc002ugi.3	+	9	1373	c.951_951GA>G	c.(949-951)gggfs	p.G317fs		NM_000817	NP_000808	Q99259	DCE1_HUMAN	Homo sapiens glutamate decarboxylase 1 (brain, 67kDa) (GAD1), transcript variant GAD67, mRNA.	317					glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion|protein-pyridoxal-5-phosphate linkage	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|plasma membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(15)|ovary(1)|urinary_tract(2)	35					L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	ATTATAGGGGGAAAATAATTC	0.348												
SLC25A12	8604	broad.mit.edu	37	2	172725336	172725336	+	Splice_Site	DEL	A	A	-			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr2:172725335_172725335TA>T	uc002uhh.2	-	3	156	c.67_splice	c.e3-1	p.Y23_splice	SLC25A12_uc010fqh.2_Splice_Site|SLC25A12_uc010zdv.1_Splice_Site	NM_003705	NP_003696	O75746	CMC1_HUMAN	Homo sapiens solute carrier family 25 (mitochondrial carrier, Aralar), member 12 (SLC25A12), nuclear gene encoding mitochondrial protein, mRNA.	23					gluconeogenesis|malate-aspartate shuttle|response to calcium ion	integral to membrane|mitochondrial inner membrane	L-aspartate transmembrane transporter activity|L-glutamate transmembrane transporter activity|calcium ion binding|protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|upper_aerodigestive_tract(1)	23			OV - Ovarian serous cystadenocarcinoma(117;0.216)		L-Aspartic Acid(DB00128)	ACTGGCATACTAAAAAAATAA	0.313												
FSIP2	401024	broad.mit.edu	37	2	186673635	186673635	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr2:186673634_186673634CA>C	uc002upl.3	+	16	19868	c.19868_19868CA>C	c.(19867-19869)ccafs	p.P6623fs	FSIP2_uc002upm.3_Intron	NM_173651	NP_775922			Homo sapiens fibrous sheath interacting protein 2 (FSIP2), mRNA.									p.P1232Q(2)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						AAAATAGATCCAAAAATTATT	0.318												
AAMP	14	broad.mit.edu	37	2	219134766	219134766	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr2:219134765_219134765TG>T	uc002vhl.3	-	0	129	c.45_45CA>A	c.(43-45)ccafs	p.P15fs	PNKD_uc002vhn.3_5'Flank|AAMP_uc002vhk.3_Frame_Shift_Del_p.P15fs|PNKD_uc002vhm.2_5'Flank	NM_001087	NP_001078	Q13685	AAMP_HUMAN	Homo sapiens angio-associated, migratory cell protein (AAMP), mRNA.	15					angiogenesis|cell differentiation|positive regulation of endothelial cell migration|smooth muscle cell migration	cell surface|cytoplasm|plasma membrane	heparin binding			haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(4)|ovary(2)|skin(1)	11		Renal(207;0.0474)		Epithelial(149;7.19e-07)|all cancers(144;0.000131)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGGTCTCCAGTGGGGGGGTGT	0.622												
C3orf39	84892	broad.mit.edu	37	3	43121686	43121686	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr3:43121685_43121685GC>G	uc003cmr.1	-	1	1582	c.1239_1239GC>C	c.(1237-1239)ggcfs	p.G413fs	C3orf39_uc003cmq.1_Frame_Shift_Del_p.G413fs|C3orf39_uc021wwn.1_Frame_Shift_Del_p.G413fs	NM_032806	NP_116195	Q8NAT1	AGO61_HUMAN	Homo sapiens chromosome 3 open reading frame 39 (C3orf39), mRNA.	413						extracellular region	transferase activity, transferring glycosyl groups			cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	26				KIRC - Kidney renal clear cell carcinoma(284;0.0571)|Kidney(284;0.0718)		GATGGGTGATGCCCCCCTGAT	0.617												
CCR2	729230	broad.mit.edu	37	3	46399085	46399085	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr3:46399084_46399084CT>C	uc003cpn.4	+	1	551	c.66_66CT>C	c.(64-66)accfs	p.T22fs	CCR2_uc003cpm.4_Frame_Shift_Del_p.T22fs|CCR2_uc021wxa.1_Frame_Shift_Del_p.T22fs	NM_001123041	NP_001116513	P41597	CCR2_HUMAN	Homo sapiens chemokine (C-C motif) receptor 2 (CCR2), transcript variant A, mRNA.	22					JAK-STAT cascade|T-helper 17 cell chemotaxis|astrocyte cell migration|blood vessel remodeling|cellular defense response|chemokine-mediated signaling pathway|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|immune response|inflammatory response|interspecies interaction between organisms|monocyte extravasation|negative regulation of adenylate cyclase activity|negative regulation of angiogenesis|negative regulation of eosinophil degranulation|negative regulation of type 2 immune response|positive regulation of T cell chemotaxis|positive regulation of T cell extravasation|positive regulation of T-helper 1 type immune response|positive regulation of alpha-beta T cell proliferation|positive regulation of immune complex clearance by monocytes and macrophages|positive regulation of inflammatory response|positive regulation of interferon-gamma production|positive regulation of interleukin-2 production|positive regulation of monocyte chemotaxis|positive regulation of tumor necrosis factor biosynthetic process|regulation of vascular endothelial growth factor production	cytosol|dendrite|integral to plasma membrane|perikaryon|perinuclear region of cytoplasm|soluble fraction	C-C chemokine receptor activity|CCR2 chemokine receptor binding|protein homodimerization activity			breast(3)|endometrium(1)|large_intestine(1)|liver(2)|lung(7)	14				BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0174)|Kidney(197;0.0206)		AAGTCACCACCTTTTTTGATT	0.473												
NEK4	6787	broad.mit.edu	37	3	52797501	52797501	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr3:52797500_52797500CA>C	uc003dfq.4	-	4	1010	c.807_807TG>G	c.(805-807)ttgfs	p.L269fs	NEK4_uc011bej.2_Frame_Shift_Del_p.L180fs|NEK4_uc003dfr.3_Frame_Shift_Del_p.L269fs	NM_003157	NP_003148	P51957	NEK4_HUMAN	Homo sapiens NIMA (never in mitosis gene a)-related kinase 4 (NEK4), transcript variant 1, mRNA.	269					cell division|mitosis	nucleus	ATP binding|metal ion binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(10)	26				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)		TTGTGGCCTCCAAAAAGAAGG	0.428												
ROBO2	6092	broad.mit.edu	37	3	77684125	77684125	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr3:77684124_77684124TA>T	uc011bgk.2	+	24	4519	c.3876_3876TA>T	c.(3874-3876)actfs	p.T1292fs	ROBO2_uc021xat.1_Frame_Shift_Del_p.T1304fs|ROBO2_uc003dpy.4_Frame_Shift_Del_p.T1288fs|ROBO2_uc003dpz.3_Frame_Shift_Del_p.T1353fs|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.	1288					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)		CTCGGCCCACTAAAAAACACA	0.502												
MORC1	27136	broad.mit.edu	37	3	108751611	108751611	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr3:108751610_108751610CA>C	uc003dxl.3	-	15	1609	c.1522_1522TG>G	c.(1522-1524)gacfs	p.D508fs	MORC1_uc011bhn.2_Frame_Shift_Del_p.D508fs	NM_014429	NP_055244	Q86VD1	MORC1_HUMAN	Homo sapiens MORC family CW-type zinc finger 1 (MORC1), mRNA.	508					cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding			breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						ATCCAAATGTCAAAAAATTCT	0.289												
NPHP3	27031	broad.mit.edu	37	3	132438596	132438597	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr3:132438595_132438596GCT>G	uc003epe.2	-	1	576_577	c.472_473AGC>C	c.(472-474)gcafs	p.A158fs	NPHP3-AS1_uc003epg.1_5'Flank|NPHP3_uc003epf.2_5'UTR|NPHP3-AS1_uc010htu.2_5'Flank	NM_153240	NP_694972	Q7Z494	NPHP3_HUMAN	Homo sapiens nephronophthisis 3 (adolescent) (NPHP3), mRNA.	158					Wnt receptor signaling pathway|maintenance of organ identity|negative regulation of canonical Wnt receptor signaling pathway|photoreceptor cell maintenance|regulation of Wnt receptor signaling pathway, planar cell polarity pathway	cilium	protein binding			NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(15)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						AAATGTTGCTGCTCTCTCCATT	0.327												
XRN1	54464	broad.mit.edu	37	3	142051906	142051906	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr3:142051905_142051905TA>T	uc003eus.3	-	34	4033	c.3966_3966TA>A	c.(3964-3966)ttafs	p.L1322fs	XRN1_uc010huu.3_Frame_Shift_Del_p.L788fs|XRN1_uc003eut.3_Frame_Shift_Del_p.L1322fs|XRN1_uc003euu.3_Frame_Shift_Del_p.L1322fs	NM_019001	NP_061874	Q8IZH2	XRN1_HUMAN	Homo sapiens 5'-3' exoribonuclease 1 (XRN1), transcript variant 1, mRNA.	1322					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear mRNA surveillance|rRNA catabolic process	Golgi apparatus|cytosol|intermediate filament cytoskeleton|plasma membrane	5'-3' exonuclease activity|DNA binding|RNA binding|protein binding			NS(1)|breast(3)|endometrium(6)|kidney(12)|large_intestine(11)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	61						TCAAAGATGCTAAAAAGTTCT	0.363												
N4BP2	55728	broad.mit.edu	37	4	40122061	40122061	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr4:40122060_40122060GA>G	uc003guy.4	+	8	2667	c.2329_2329GA>G	c.(2329-2331)gaafs	p.E777fs	N4BP2_uc010ifq.3_Frame_Shift_Del_p.E697fs|N4BP2_uc010ifr.3_Frame_Shift_Del_p.E697fs	NM_018177	NP_060647	Q86UW6	N4BP2_HUMAN	Homo sapiens NEDD4 binding protein 2 (N4BP2), mRNA.	777						cytoplasm	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding			breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	60						ATCGACTTTGGAAAAGTTCCC	0.373												
ATP8A1	10396	broad.mit.edu	37	4	42445639	42445639	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr4:42445638_42445638CA>C	uc003gwr.2	-	32	3299	c.3067_3067TG>G	c.(3067-3069)ggafs	p.G1023fs	ATP8A1_uc003gwq.2_Frame_Shift_Del_p.G249fs|ATP8A1_uc003gws.2_Frame_Shift_Del_p.G1008fs	NM_006095	NP_006086	Q9Y2Q0	AT8A1_HUMAN	Homo sapiens ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1 (ATP8A1), transcript variant 1, mRNA.	1023					ATP biosynthetic process	chromaffin granule membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|aminophospholipid transporter activity|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	51					Phosphatidylserine(DB00144)	GAGTAGATTCCAAAAAACACC	0.448												
QRFPR	84109	broad.mit.edu	37	4	122250740	122250741	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr4:122250739_122250740A>AT	uc010inj.1	-	5	1404_1405	c.1025_1026T>AT	c.(1024-1026)aatfs	p.N342fs	QRFPR_uc010ink.1_Non-coding_Transcript|QRFPR_uc003ids.2_3'UTR	NM_198179	NP_937822	Q96P65	QRFPR_HUMAN	Homo sapiens pyroglutamylated RFamide peptide receptor (QRFPR), mRNA.	342						plasma membrane	neuropeptide Y receptor activity			endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|prostate(2)|skin(3)|stomach(1)	28						CAGACAAAACATTTTTTTTGAA	0.332												
FHDC1	85462	broad.mit.edu	37	4	153864507	153864507	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr4:153864506_153864506CT>C	uc003inf.2	+	0	372	c.297_297CT>C	c.(295-297)agcfs	p.S99fs		NM_033393	NP_203751	Q9C0D6	FHDC1_HUMAN	Homo sapiens FH2 domain containing 1 (FHDC1), mRNA.	99	FH2.				actin cytoskeleton organization		actin binding		ARFIP1/FHDC1(2)	NS(2)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	43	all_hematologic(180;0.093)					GGATGAGAAGCTTTTTTTGGA	0.512												
IRF2	3660	broad.mit.edu	37	4	185329341	185329341	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr4:185329340_185329340AT>A	uc003iwf.4	-	5	701	c.501_501AT>T	c.(499-501)aatfs	p.N167fs		NM_002199	NP_002190	P14316	IRF2_HUMAN	Homo sapiens interferon regulatory factor 2 (IRF2), mRNA.	167					blood coagulation|cell proliferation|interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	focal adhesion|nucleoplasm	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(2)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	22		all_lung(41;7.86e-14)|Lung NSC(41;1.87e-13)|Colorectal(36;0.00146)|Hepatocellular(41;0.00826)|Renal(120;0.00992)|Prostate(90;0.0115)|all_neural(102;0.0573)|all_hematologic(60;0.0592)		all cancers(43;3.94e-27)|Epithelial(43;5.3e-24)|OV - Ovarian serous cystadenocarcinoma(60;1.06e-10)|Colorectal(24;7.98e-07)|STAD - Stomach adenocarcinoma(60;3.95e-05)|GBM - Glioblastoma multiforme(59;8.3e-05)|COAD - Colon adenocarcinoma(29;0.000106)|BRCA - Breast invasive adenocarcinoma(30;0.000311)|LUSC - Lung squamous cell carcinoma(40;0.0128)|READ - Rectum adenocarcinoma(43;0.0419)		TATCCACTTCATTTTTTATAG	0.413												
IPO11	51194	broad.mit.edu	37	5	61770245	61770246	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr5:61770244_61770245G>GT	uc011cqr.2	+	7	960_961	c.830_831G>GT	c.(829-831)ggtfs	p.G277fs	IPO11_uc003jtc.3_Frame_Shift_Ins_p.G237fs	NM_001134779	NP_057422	Q9UI26	IPO11_HUMAN	Homo sapiens importin 11 (IPO11), transcript variant 1, mRNA.	237						cytoplasm|nucleus	protein binding			endometrium(2)|kidney(3)|large_intestine(5)|lung(14)|skin(4)|stomach(2)	30		Lung NSC(810;8.99e-06)|Prostate(74;0.0235)|Ovarian(174;0.0511)|Breast(144;0.077)		Lung(70;0.0613)		CTTTTCTAGGGTTTTTTACATG	0.277												
THBS4	7060	broad.mit.edu	37	5	79372814	79372814	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr5:79372813_79372813GC>G	uc021yaw.1	+	15	2219	c.2028_2028GC>G	c.(2026-2028)gtgfs	p.V676fs	BC047373_uc003kgi.4_Intron	NM_003248	NP_003239	P35443	TSP4_HUMAN	Homo sapiens thrombospondin 4 (THBS4), mRNA.	676					endothelial cell-cell adhesion|myoblast migration|negative regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation	basement membrane|extracellular space	calcium ion binding|heparin binding|integrin binding|structural molecule activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|stomach(3)	34		Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34)		CAGACCTGGTGCCCCCTGGAC	0.587												
CHD1	1105	broad.mit.edu	37	5	98236745	98236745	+	Frame_Shift_Del	DEL	T	T	-	rs80342635		TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr5:98236744_98236744CT>C	uc003knf.3	-	5	778	c.630_630AG>G	c.(628-630)aagfs	p.K210fs		NM_001270	NP_001261	O14646	CHD1_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 1 (CHD1), mRNA.	210					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|methylated histone residue binding			NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	49		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0717)	Epirubicin(DB00445)	CAATCTGTCTCTTTTTTTGTC	0.318												
RNF145	153830	broad.mit.edu	37	5	158596066	158596066	+	Splice_Site	DEL	A	A	-			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr5:158596065_158596065TA>T	uc010jiq.2	-	8	1179	c.1029_splice	c.e8-1	p.R343_splice	RNF145_uc011ddy.2_Splice_Site_p.R327_splice|RNF145_uc003lxo.2_Splice_Site_p.R341_splice|RNF145_uc011ddz.2_Splice_Site_p.R330_splice|RNF145_uc003lxp.3_Splice_Site_p.R313_splice|RNF145_uc011dea.2_Intron	NM_001199380	NP_001186309	Q96MT1	RN145_HUMAN	Homo sapiens ring finger protein 145 (RNF145), transcript variant 1, mRNA.	313						integral to membrane	zinc ion binding			endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30	Renal(175;0.00196)	Medulloblastoma(196;0.0523)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GTCATGCCCCTAAAAAAAGCA	0.363												
DTNBP1	84062	broad.mit.edu	37	6	15524787	15524789	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr6:15524786_15524788TCTC>T	uc003nbm.3	-	8	969_971	c.780_782GAGA>A	c.(778-783)ggagaa>ggAa	p.E262del	DTNBP1_uc003nbl.3_In_Frame_Del_p.E181del|DTNBP1_uc010jph.3_In_Frame_Del_p.E249del|DTNBP1_uc003nbp.3_In_Frame_Del_p.E262del	NM_032122	NP_115498	Q96EV8	DTBP1_HUMAN	Homo sapiens dystrobrevin binding protein 1 (DTNBP1), transcript variant 1, mRNA.	262	Dysbindin.				actin cytoskeleton reorganization|cellular membrane organization|neuron projection morphogenesis|post-Golgi vesicle-mediated transport|regulation of dopamine receptor signaling pathway	BLOC-1 complex|axon part|cell junction|dendritic spine|endoplasmic reticulum membrane|endosome membrane|growth cone|melanosome membrane|nucleus|postsynaptic density|postsynaptic membrane|sarcolemma|synaptic vesicle membrane|synaptosome	identical protein binding	p.G260delG(1)		cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|skin(2)	14	Breast(50;0.0289)|Ovarian(93;0.103)	all_hematologic(90;0.0895)	Epithelial(50;0.211)			AGTGTTCTCTTCTCCTCCAGAGT	0.547									Hermansky-Pudlak syndrome			
MBOAT1	154141	broad.mit.edu	37	6	20144534	20144535	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr6:20144533_20144534C>CA	uc003ncx.1	-	3	541_542	c.336_337G>TG	c.(334-339)tttgtafs	p.F112fs	MBOAT1_uc011dji.1_5'UTR	NM_001080480	NP_001073949	Q6ZNC8	MBOA1_HUMAN	Homo sapiens membrane bound O-acyltransferase domain containing 1 (MBOAT1), mRNA.	112					phospholipid biosynthetic process	integral to membrane	acyltransferase activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(5)	20	all_cancers(95;0.244)|Breast(50;0.0379)|Ovarian(93;0.0473)|all_epithelial(95;0.109)		OV - Ovarian serous cystadenocarcinoma(7;0.00392)|all cancers(50;0.0117)|Epithelial(50;0.0454)			CCCATTGCTACAAAAAAGGAAT	0.351												
HLA-A	3105	broad.mit.edu	37	6	29911900	29911900	+	Splice_Site	DEL	C	C	-	rs75368153		TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr6:29911899_29911899AC>A	uc003nol.3	+	4	704	c.620_splice	c.e4-1	p.D207_splice	HLA-G_uc021ytw.1_Intron|HLA-G_uc011dmb.2_Intron|HLA-J_uc021yty.1_Intron|AK097625_uc003nog.1_5'Flank|HLA-A_uc021ytz.1_Splice_Site_p.D207_splice|HLA-A_uc010jrq.3_Splice_Site_p.D86_splice|HLA-A_uc003nok.3_Splice_Site_p.D86_splice|HLA-A_uc010klp.2_Splice_Site_p.D179_splice|HLA-A_uc011dmc.2_Splice_Site_p.D86_splice|HLA-A_uc011dmd.2_Splice_Site_p.D86_splice|HLA-A_uc021yub.1_5'Flank	NM_002116	NP_002107	P30443	1A01_HUMAN	Homo sapiens major histocompatibility complex, class I, A (HLA-A), transcript variant 1, mRNA.	207	Alpha-3.				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 plasma membrane	MHC class I receptor activity			central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						TTCCCGTCAGACCCCCCCAAG	0.577									Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Multiple Myeloma(9;0.094)		
RXRB	6257	broad.mit.edu	37	6	33164323	33164323	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr6:33164322_33164322TC>T	uc003odb.3	-	4	1061	c.882_882GA>A	c.(880-882)ggafs	p.G294fs	RXRB_uc003odc.3_Frame_Shift_Del_p.G294fs|RXRB_uc011dqr.2_Frame_Shift_Del_p.G104fs|RXRB_uc011dqs.1_Frame_Shift_Del_p.G177fs|RXRB_uc003ode.1_Frame_Shift_Del_p.G158fs|RXRB_uc011dqt.1_Frame_Shift_Del_p.G294fs|RXRB_uc011dqu.1_Frame_Shift_Del_p.G198fs	NM_021976	NP_068811	P28702	RXRB_HUMAN	Homo sapiens retinoid X receptor, beta (RXRB), mRNA.	294	Hinge.				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	ligand-regulated transcription factor activity|retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(1)|skin(2)	15					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Bexarotene(DB00307)|Etretinate(DB00926)|Tazarotene(DB00799)|Tretinoin(DB00755)	CCTCGGGGGCTCCCCCAGCCC	0.632												
OGFRL1	79627	broad.mit.edu	37	6	72011426	72011426	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr6:72011425_72011425CA>C	uc003pfx.1	+	6	1192	c.1029_1029CA>C	c.(1027-1029)cacfs	p.H343fs		NM_024576	NP_078852	Q5TC84	OGRL1_HUMAN	Homo sapiens opioid growth factor receptor-like 1 (OGFRL1), mRNA.	343						membrane	receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|upper_aerodigestive_tract(1)	13						CTTCTATGCACAAAAAAGCCA	0.453												
MED23	9439	broad.mit.edu	37	6	131944504	131944504	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr6:131944503_131944503TC>T	uc003qcs.1	-	4	558	c.384_384GA>A	c.(382-384)ggafs	p.G128fs	MED23_uc003qcq.3_Frame_Shift_Del_p.G128fs|MED23_uc003qct.1_Frame_Shift_Del_p.G128fs|MED23_uc011ecb.1_Non-coding_Transcript	NM_004830	NP_004821	Q9ULK4	MED23_HUMAN	Homo sapiens mediator complex subunit 23 (MED23), transcript variant 1, mRNA.	128					regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor complex	protein binding|transcription coactivator activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(12)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	44	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608)		TGTAATCCACTCCCCCAATTA	0.368												
DNAH11	8701	broad.mit.edu	37	7	21631141	21631141	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr7:21631140_21631140CA>C	uc003svc.3	+	13	2643	c.2612_2612CA>C	c.(2611-2613)acafs	p.T871fs		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	Homo sapiens dynein, axonemal, heavy chain 11 (DNAH11), mRNA.	871	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						GATTTGTTTACAAAAAAATAC	0.473									Kartagener syndrome			
JAZF1	221895	broad.mit.edu	37	7	27872467	27872470	+	Frame_Shift_Del	DEL	ATTG	ATTG	-	rs143697346	byFrequency	TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr7:27872466_27872469AATTG>A	uc003szn.3	-	4	923_926	c.682_685CAATT>T	c.(682-687)aatttcfs	p.N228fs	JAZF1_uc003szm.3_Frame_Shift_Del_p.N164fs	NM_175061	NP_778231	Q86VZ6	JAZF1_HUMAN	Homo sapiens JAZF zinc finger 1 (JAZF1), mRNA.	228					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	transcriptional repressor complex	nucleic acid binding|transcription corepressor activity|zinc ion binding		JAZF1/SUZ12(133)	endometrium(1)|large_intestine(1)|lung(4)	6						GGGGGATGGAAATTGATTGTGTGG	0.485			T	SUZ12	endometrial stromal tumours							
ZKSCAN5	23660	broad.mit.edu	37	7	99129418	99129419	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr7:99129417_99129418G>GA	uc003uqv.3	+	6	2189_2190	c.2065_2066G>GA	c.(2065-2067)gaafs	p.E689fs	ZKSCAN5_uc010lfx.3_Frame_Shift_Ins_p.E689fs|ZKSCAN5_uc003uqw.3_Frame_Shift_Ins_p.E689fs|ZKSCAN5_uc003uqx.3_Frame_Shift_Ins_p.E616fs|ZKSCAN5_uc003uqy.3_Frame_Shift_Ins_p.E425fs	NM_145102	NP_659570	Q9Y2L8	ZKSC5_HUMAN	Homo sapiens zinc finger with KRAB and SCAN domains 5 (ZKSCAN5), transcript variant 2, mRNA.	689					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	21	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					TCAGAAAAATGAAAAAAATGGC	0.411												
AGFG2	3268	broad.mit.edu	37	7	100148122	100148124	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr7:100148121_100148123GAGA>G	uc003uvf.3	+	2	554_556	c.418_420GAGA>G	c.(418-420)gag>G	p.E140del	AGFG2_uc003uvg.1_In_Frame_Del_p.E140del	NM_006076	NP_006067	O95081	AGFG2_HUMAN	Homo sapiens ArfGAP with FG repeats 2 (AGFG2), mRNA.	140	Arf-GAP.				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						GGAAAAATATGAGAAGAAGAGAT	0.429												
WASL	8976	broad.mit.edu	37	7	123334811	123334812	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr7:123334810_123334811G>GT	uc003vkz.3	-	7	1112_1113	c.784_785C>AC	c.(784-786)acafs	p.T262fs		NM_003941	NP_003932	O00401	WASL_HUMAN	Homo sapiens Wiskott-Aldrich syndrome-like (WASL), mRNA.	262					actin polymerization or depolymerization|axon guidance|cellular component movement|nitric oxide metabolic process|protein complex assembly|regulation of nitric-oxide synthase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	actin cytoskeleton|cytosol|nucleolus|plasma membrane	actin binding|small GTPase regulator activity	p.T262A(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						AACACCTCCTGTTTTTTCAATA	0.347												
FLNC	2318	broad.mit.edu	37	7	128478816	128478816	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr7:128478815_128478815GC>G	uc003vnz.4	+	7	1578	c.1369_1369GC>G	c.(1369-1371)gccfs	p.A457fs	FLNC_uc003voa.4_Frame_Shift_Del_p.A457fs	NM_001458	NP_001449	Q14315	FLNC_HUMAN	Homo sapiens filamin C, gamma (FLNC), transcript variant 1, mRNA.	457					cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						CTTTGCGGGTGCCCCCATCAC	0.622												
CPA4	51200	broad.mit.edu	37	7	129933076	129933076	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr7:129933075_129933075GA>G	uc003vpr.3	+	0	102	c.55_55GA>G	c.(55-57)gaafs	p.E19fs	CPA4_uc011kpd.2_Frame_Shift_Del_p.E19fs|CPA4_uc011kpe.2_5'UTR	NM_016352	NP_057436	Q9UI42	CBPA4_HUMAN	Homo sapiens carboxypeptidase A4 (CPA4), transcript variant 1, mRNA.	19					histone acetylation|proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Melanoma(18;0.0435)					CTGTGGCCAAGAAAAATTTTT	0.423												
MYOM2	9172	broad.mit.edu	37	8	2088683	2088683	+	Frame_Shift_Del	DEL	G	G	-	rs34620424	byFrequency	TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr8:2088682_2088682CG>C	uc003wpx.4	+	32	3975	c.3837_3837CG>C	c.(3835-3837)atcfs	p.I1279fs	MYOM2_uc011kwi.2_Frame_Shift_Del_p.I704fs	NM_003970	NP_003961	P54296	MYOM2_HUMAN	Homo sapiens myomesin (M-protein) 2, 165kDa (MYOM2), mRNA.	1279					muscle contraction	myosin filament	structural constituent of muscle			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		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)		ATATGAGAATCGGGGGGAGTG	0.448												
RP1L1	94137	broad.mit.edu	37	8	10467123	10467124	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr8:10467122_10467123T>TG	uc003wtc.3	-	3	4714_4715	c.4485_4486A>CA	c.(4483-4488)cccaccfs	p.P1495fs		NM_178857	NP_849188	A6NKC6	A6NKC6_HUMAN	Homo sapiens retinitis pigmentosa 1-like 1 (RP1L1), mRNA.	1495					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		GCCCCCTGGGTGGGTTGGGCCT	0.644												
CHRNB3	1142	broad.mit.edu	37	8	42587571	42587571	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr8:42587570_42587570GA>G	uc003xpi.1	+	4	1248	c.1120_1120GA>G	c.(1120-1122)gaafs	p.E374fs		NM_000749	NP_000740	Q05901	ACHB3_HUMAN	Homo sapiens cholinergic receptor, nicotinic, beta 3 (CHRNB3), mRNA.	374					synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	nicotinic acetylcholine-activated cation-selective channel activity|receptor activity			endometrium(4)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25	all_lung(13;5.7e-12)|Lung NSC(13;1.6e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00026)|Lung NSC(58;0.000992)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	Lung(22;0.0199)|LUSC - Lung squamous cell carcinoma(45;0.0869)			CAAAGTCCTCGAAAAAAAGAA	0.388												
THAP1	55145	broad.mit.edu	37	8	42694398	42694399	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr8:42694397_42694398ACT>A	uc003xpk.3	-	1	435_436	c.198_199AGT>T	c.(196-201)gagtgcfs	p.E66fs	THAP1_uc003xpl.3_Intron	NM_018105	NP_060575	Q9NVV9	THAP1_HUMAN	Homo sapiens THAP domain containing, apoptosis associated protein 1 (THAP1), transcript variant 1, mRNA.	66					cell cycle|endothelial cell proliferation|regulation of mitotic cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PML body	sequence-specific DNA binding|zinc ion binding			NS(1)|lung(4)|prostate(1)|skin(1)	7	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;0.00026)|Acute lymphoblastic leukemia(644;0.000299)|Lung NSC(58;0.000992)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.0377)|LUSC - Lung squamous cell carcinoma(45;0.0869)			TTGTTGTTGCACTCTCTCTTAA	0.381												
SULF1	23213	broad.mit.edu	37	8	70488249	70488249	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr8:70488248_70488248TG>T	uc003xyg.2	+	4	777	c.216_216TG>T	c.(214-216)catfs	p.H72fs	SULF1_uc010lza.1_Frame_Shift_Del_p.H72fs|SULF1_uc003xyd.2_Frame_Shift_Del_p.H72fs|SULF1_uc003xye.2_Frame_Shift_Del_p.H72fs|SULF1_uc003xyf.2_Frame_Shift_Del_p.H72fs	NM_001128206	NP_055985	Q8IWU6	SULF1_HUMAN	Homo sapiens sulfatase 1 (SULF1), transcript variant 2, mRNA.	72					apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	Golgi stack|cell surface|endoplasmic reticulum|extracellular space	arylsulfatase activity|calcium ion binding			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			TTATGGAACATGGGGGGGCCA	0.498												
RIMS2	9699	broad.mit.edu	37	8	104898242	104898242	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr8:104898241_104898241GA>G	uc003yls.3	+	1	989	c.748_748GA>G	c.(748-750)gaafs	p.E250fs	RIMS2_uc003ylp.3_Frame_Shift_Del_p.E472fs|RIMS2_uc003ylw.2_Frame_Shift_Del_p.E280fs|RIMS2_uc003ylq.3_Frame_Shift_Del_p.E280fs|RIMS2_uc003ylr.3_Frame_Shift_Del_p.E280fs	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	Homo sapiens regulating synaptic membrane exocytosis 2 (RIMS2), transcript variant 2, mRNA.	503					intracellular protein transport	cell junction|presynaptic membrane	Rab GTPase binding|metal ion binding	p.L249P(1)		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)			AACAAAACGGGAAAAAATGGA	0.448										HNSCC(12;0.0054)		
MYC	4609	broad.mit.edu	37	8	128753073	128753073	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr8:128753072_128753072TA>T	uc003ysi.3	+	2	1758	c.1233_1233TA>T	c.(1231-1233)cttfs	p.L411fs		NM_002467	NP_002458	P01106	MYC_HUMAN	Homo sapiens v-myc myelocytomatosis viral oncogene homolog (avian) (MYC), mRNA.	396					branching involved in ureteric bud morphogenesis|cell cycle arrest|cell proliferation|cellular iron ion homeostasis|positive regulation of metanephric cap mesenchymal cell proliferation|positive regulation of transcription, DNA-dependent|regulation of telomere maintenance|regulation of transcription from RNA polymerase II promoter|response to drug	nucleolus|nucleoplasm	E-box binding|protein binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|lung(7)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	16	all_cancers(1;6.19e-134)|all_epithelial(1;1.75e-119)|all_lung(1;5.66e-51)|Breast(1;1.08e-22)|all_neural(1;4.45e-21)|Medulloblastoma(1;1.88e-20)|Colorectal(1;1.92e-09)|Lung SC(1;4.52e-07)|Ovarian(5;0.000122)|Esophageal squamous(12;0.000995)|Renal(1;0.0921)|Hepatocellular(40;0.108)|Myeloproliferative disorder(2;0.135)|Melanoma(291;0.185)	Myeloproliferative disorder(644;0.0255)|Ovarian(118;0.0654)|Breast(495;0.212)|Acute lymphoblastic leukemia(644;0.22)	Epithelial(1;1.63e-94)|all cancers(1;5.82e-87)|OV - Ovarian serous cystadenocarcinoma(1;2.12e-71)|BRCA - Breast invasive adenocarcinoma(1;4.3e-14)|Lung(2;0.000381)|Colorectal(2;0.0102)|LUAD - Lung adenocarcinoma(14;0.0172)|READ - Rectum adenocarcinoma(2;0.0723)|LUSC - Lung squamous cell carcinoma(258;0.151)	KIRC - Kidney renal clear cell carcinoma(542;0.248)		TAGTTATCCTTAAAAAAGCCA	0.488		3	"""A, T"""	"""IGK@, BCL5, BCL7A , BTG1, TRA@, IGH@"""	"""Burkitt lymphoma,  amplified in other cancers, B-CLL"""							
JAK2	3717	broad.mit.edu	37	9	5050792	5050793	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr9:5050791_5050792G>GA	uc010mhm.3	+	4	687_688	c.574_575G>GA	c.(574-576)gaafs	p.E192fs	JAK2_uc003ziw.3_Frame_Shift_Ins_p.E192fs	NM_004972	NP_004963	O60674	JAK2_HUMAN	Homo sapiens Janus kinase 2 (JAK2), mRNA.	192	FERM.|Interaction with cytokine/interferon/growth hormone receptors (By similarity).				JAK-STAT cascade involved in growth hormone signaling pathway|STAT protein import into nucleus|actin filament polymerization|activation of JAK2 kinase activity|activation of caspase activity by protein phosphorylation|blood coagulation|cellular component movement|erythrocyte differentiation|interferon-gamma-mediated signaling pathway|interleukin-12-mediated signaling pathway|mammary gland epithelium development|mesoderm development|negative regulation of DNA binding|negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of cell-substrate adhesion|positive regulation of growth hormone receptor signaling pathway|positive regulation of nitric-oxide synthase 2 biosynthetic process|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|protein autophosphorylation|regulation of inflammatory response|regulation of interferon-gamma-mediated signaling pathway|response to antibiotic|response to lipopolysaccharide|tumor necrosis factor-mediated signaling pathway|tyrosine phosphorylation of STAT protein	caveola|cytoskeleton|cytosol|endomembrane system|nucleus	ATP binding|SH2 domain binding|growth hormone receptor binding|heme binding|histone binding|histone kinase activity (H3-Y41 specific)|interleukin-12 receptor binding|non-membrane spanning protein tyrosine kinase activity|protein kinase binding	p.K191Q(1)	BCR/JAK2(6)|SSBP2/JAK2(4)|SEC31A/JAK2(4)|ETV6/JAK2(11)|PCM1/JAK2(30)|PAX5/JAK2(18)	breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(32944)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(4)|skin(2)|urinary_tract(1)	32998	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0198)|Breast(48;0.147)		GBM - Glioblastoma multiforme(50;0.0237)|Lung(218;0.133)		AATAGCCAAAGAAAACGATCAA	0.371		1	"""T, Mis, O"""	"""ETV6, PCM1, BCR"""	"""ALL, AML, MPD,  CML"""				Polycythemia Vera, Familial			
PTPLAD2	401494	broad.mit.edu	37	9	21007046	21007047	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr9:21007045_21007046C>CT	uc010miq.2	-	6	735_736	c.689_690G>AG	c.(688-690)aagfs	p.K230fs	PTPLAD2_uc010mir.1_Frame_Shift_Ins_p.K230fs	NM_001010915	NP_001010915	Q5VWC8	HACD4_HUMAN	Homo sapiens protein tyrosine phosphatase-like A domain containing 2 (PTPLAD2), mRNA.	230	Poly-Lys.				fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	lyase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)	10				Lung(24;6.02e-14)|LUSC - Lung squamous cell carcinoma(38;1.29e-10)		TTCACATCTTCTTTTTTTTAAT	0.371												
C9orf152	401546	broad.mit.edu	37	9	112963554	112963554	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr9:112963553_112963553TG>T	uc011lwk.2	-	1	949	c.395_395CA>A	c.(394-396)cagfs	p.Q132fs	C9orf152_uc022blq.1_5'Flank	NM_001012993	NP_001013011	Q5JTZ5	CI152_HUMAN	Homo sapiens chromosome 9 open reading frame 152 (C9orf152), mRNA.	132										NS(1)|endometrium(1)|large_intestine(1)|lung(1)|skin(1)|stomach(1)	6						ACTGGTGTCCTGGGGGGAGGT	0.562												
PDCL	5082	broad.mit.edu	37	9	125582805	125582805	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr9:125582804_125582804GC>G	uc004bmz.2	-	3	657	c.466_466GC>C	c.(466-468)cccfs	p.P156fs		NM_005388	NP_005379	Q13371	PHLP_HUMAN	Homo sapiens phosducin-like (PDCL), mRNA.	156					signal transduction|visual perception					endometrium(1)|large_intestine(2)|lung(5)|skin(1)|stomach(1)	10						TTGAATTGGGGCCCCTTGTGA	0.438												
TTC16	158248	broad.mit.edu	37	9	130491863	130491864	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr9:130491862_130491863G>GA	uc004brq.1	+	12	1834_1835	c.1767_1768G>GA	c.(1765-1770)gagaaafs	p.E589fs	TTC16_uc011mai.1_Frame_Shift_Ins_p.E576fs|TTC16_uc004brr.1_Intron|TTC16_uc010mxn.1_Frame_Shift_Ins_p.E185fs	NM_144965	NP_659402	Q8NEE8	TTC16_HUMAN	Homo sapiens tetratricopeptide repeat domain 16 (TTC16), mRNA.	589							binding			central_nervous_system(2)|endometrium(3)|lung(7)|ovary(3)|pancreas(2)|prostate(4)|skin(1)	22						TGCCATAGGAGAAAAAATCAGA	0.554												
CERCAM	51148	broad.mit.edu	37	9	131186544	131186544	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr9:131186543_131186543AC>A	uc004buz.4	+	3	951	c.553_553AC>A	c.(553-555)accfs	p.T185fs	CERCAM_uc004buy.1_Frame_Shift_Del_p.T107fs|CERCAM_uc010mxz.3_Frame_Shift_Del_p.T107fs|CERCAM_uc010mya.1_Frame_Shift_Del_p.T26fs	NM_016174	NP_057258	Q5T4B2	GT253_HUMAN	Homo sapiens cerebral endothelial cell adhesion molecule (CERCAM), mRNA.	185					cellular component movement|leukocyte cell-cell adhesion|lipopolysaccharide biosynthetic process	endoplasmic reticulum lumen|plasma membrane				endometrium(2)|kidney(4)|large_intestine(2)|lung(9)|ovary(1)|pancreas(2)	20						GTGTGGGATCACCCCCCAGGT	0.632												
SLC2A6	11182	broad.mit.edu	37	9	136343522	136343522	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr9:136343521_136343521CT>C	uc004cee.3	-	1	205	c.110_110AG>G	c.(109-111)aggfs	p.R37fs	SLC2A6_uc004cef.3_Frame_Shift_Del_p.R37fs|SLC2A6_uc004ceg.3_Frame_Shift_Del_p.R37fs|SLC2A6_uc011mdj.1_Frame_Shift_Del_p.R37fs	NM_017585	NP_060055	Q9UGQ3	GTR6_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 6 (SLC2A6), transcript variant 1, mRNA.	37						integral to membrane|plasma membrane	D-glucose transmembrane transporter activity			cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(3)|skin(1)	10				OV - Ovarian serous cystadenocarcinoma(145;8.47e-08)|Epithelial(140;9.37e-07)|all cancers(34;1.03e-05)		CAGGAACACCCTTTTGTTCTG	0.587												
LARP4B	23185	broad.mit.edu	37	10	890939	890939	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr10:890938_890938GT>G	uc001ifs.1	-	4	529	c.488_488AC>C	c.(487-489)acafs	p.T163fs		NM_015155	NP_055970	Q92615	LAR4B_HUMAN	Homo sapiens La ribonucleoprotein domain family, member 4B (LARP4B), mRNA.	163	HTH La-type RNA-binding.						RNA binding|nucleotide binding	p.T163P(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	38						GAATTCCAATGTTTTTTTAAG	0.353												
STAM	8027	broad.mit.edu	37	10	17735288	17735290	+	In_Frame_Del	DEL	AAG	AAG	-	rs146689436		TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr10:17735287_17735289AAAG>A	uc001ipj.2	+	5	726_728	c.511_513AAAG>A	c.(511-513)aaa>A	p.K171del	STAM_uc010qcf.2_In_Frame_Del_p.K60del|STAM_uc009xjw.2_5'Flank	NM_003473	NP_003464	Q92783	STAM1_HUMAN	Homo sapiens signal transducing adaptor molecule (SH3 domain and ITAM motif) 1 (STAM), transcript variant 1, mRNA.	171					cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway	cytosol|early endosome membrane	SH3/SH2 adaptor activity			breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	26						GGCTAACAAAAAAGAAGAAGAAG	0.374												
HERC4	26091	broad.mit.edu	37	10	69785436	69785436	+	Splice_Site	DEL	A	A	-	rs3834396	by1000genomes	TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr10:69785435_69785435TA>T	uc001jng.4	-	8	1089	c.778_splice	c.e8-1	p.E260_splice	HERC4_uc001jnf.4_Splice_Site|HERC4_uc001jnh.4_Splice_Site_p.E260_splice|HERC4_uc009xpr.3_Splice_Site_p.E260_splice|HERC4_uc001jni.4_Splice_Site_p.E4_splice	NM_022079	NP_071362	Q5GLZ8	HERC4_HUMAN	Homo sapiens hect domain and RLD 4 (HERC4), transcript variant 1, mRNA.	260					cell differentiation|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|spermatogenesis	cytosol	ubiquitin-protein ligase activity	p.?(1)		NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	27						TCCACCTTCCTAAAAAAAGAC	0.338												
FAM35A	54537	broad.mit.edu	37	10	88950340	88950340	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr10:88950339_88950339CT>C	uc001kei.4	+	8	2521	c.2407_2407CT>C	c.(2407-2409)cttfs	p.L803fs	FAM35A_uc001kej.4_Frame_Shift_Del_p.L249fs	NM_019054	NP_061927	Q86V20	FA35A_HUMAN	Homo sapiens family with sequence similarity 35, member A (FAM35A), mRNA.	803										endometrium(2)|kidney(2)|large_intestine(5)|lung(1)|ovary(2)|prostate(2)|skin(2)	16						GATTCAGAGCCTTTTTGTGTT	0.453												
DOCK1	1793	broad.mit.edu	37	10	128798457	128798458	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr10:128798456_128798457G>GA	uc010qun.2	+	9	934_935	c.870_871G>GA	c.(868-873)ctgaaafs	p.L290fs	DOCK1_uc001ljt.3_Frame_Shift_Ins_p.L290fs	NM_001380	NP_001371	Q14185	DOCK1_HUMAN	Homo sapiens dedicator of cytokinesis 1 (DOCK1), mRNA.	290					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|SH3 domain binding|guanyl-nucleotide exchange factor activity			NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	72		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)		GCAAAGACCTGAAAAGGGAGAA	0.441												
MICALCL	84953	broad.mit.edu	37	11	12315879	12315879	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr11:12315878_12315878CA>C	uc001mkg.1	+	2	1191	c.900_900CA>C	c.(898-900)tccfs	p.S300fs		NM_032867	NP_116256	Q6ZW33	MICLK_HUMAN	Homo sapiens MICAL C-terminal like (MICALCL), mRNA.	300					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm	mitogen-activated protein kinase binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(5)|lung(5)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	30				Epithelial(150;0.00177)		AGCAAGAATCCAAAACTTTGC	0.557												
LGR4	55366	broad.mit.edu	37	11	27401816	27401817	+	Splice_Site	DEL	AC	AC	-			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr11:27401815_27401816TAC>T	uc001mrj.4	-	10	1456	c.971_splice	c.e10+1	p.L324_splice	LGR4_uc001mrk.4_Splice_Site_p.L300_splice	NM_018490	NP_060960	Q9BXB1	LGR4_HUMAN	Homo sapiens leucine-rich repeat containing G protein-coupled receptor 4 (LGR4), mRNA.	324						integral to membrane|plasma membrane	protein-hormone receptor activity			NS(3)|breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(10)|ovary(1)	32						GGGCCTTACTTACAGACTTTCC	0.436												
MS4A10	341116	broad.mit.edu	37	11	60558553	60558554	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr11:60558552_60558553T>TG	uc001npz.1	+	2	385_386	c.289_290T>TG	c.(289-291)tggfs	p.W97fs		NM_206893	NP_996776	Q96PG2	M4A10_HUMAN	Homo sapiens membrane-spanning 4-domains, subfamily A, member 10 (MS4A10), mRNA.	97						integral to membrane	receptor activity			endometrium(1)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|skin(2)	21						GTATCCATTCTGGGGGGCTGCC	0.584												
RAB1B	81876	broad.mit.edu	37	11	66039888	66039889	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr11:66039887_66039888C>CG	uc001ohf.3	+	3	330_331	c.235_236C>CG	c.(235-237)cggfs	p.R79fs	AK125412_uc001ohg.1_Non-coding_Transcript	NM_030981	NP_112243	Q9H0U4	RAB1B_HUMAN	Homo sapiens RAB1B, member RAS oncogene family (RAB1B), mRNA.	79	Switch 2 region; required for interaction with REP1/CHM.				protein transport|small GTPase mediated signal transduction	Golgi apparatus|membrane	GTP binding|protein binding			large_intestine(2)|lung(1)|ovary(1)|prostate(1)	5						CAGCTACTACCGGGGGGCTCAT	0.579												
ANO1	55107	broad.mit.edu	37	11	70013393	70013394	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr11:70013392_70013393G>GC	uc001opj.3	+	20	2401_2402	c.2096_2097G>GC	c.(2095-2097)agcfs	p.S699fs	ANO1_uc001opl.2_Non-coding_Transcript|ANO1_uc010rqk.2_Frame_Shift_Ins_p.S408fs|ANO1_uc010rql.1_5'Flank	NM_018043	NP_060513	Q5XXA6	ANO1_HUMAN	Homo sapiens anoctamin 1, calcium activated chloride channel (ANO1), transcript variant 1, mRNA.	699					multicellular organismal development	chloride channel complex|cytoplasm|plasma membrane	intracellular calcium activated chloride channel activity			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(12)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)	29						AAGCAGCAGAGCCCCCCTGACC	0.545												
INPPL1	3636	broad.mit.edu	37	11	71948484	71948484	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr11:71948483_71948483GC>G	uc001osf.3	+	25	3342	c.3195_3195GC>G	c.(3193-3195)ctgfs	p.L1065fs	INPPL1_uc001osg.3_Frame_Shift_Del_p.L823fs	NM_001567	NP_001558	O15357	SHIP2_HUMAN	Homo sapiens inositol polyphosphate phosphatase-like 1 (INPPL1), mRNA.	1065	Pro-rich.				actin filament organization|cell adhesion|endocytosis	actin cortical patch|cytosol	SH2 domain binding|SH3 domain binding|actin binding			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						CCATCTTCCTGCCCCCCAGCC	0.662												
DDX6	1656	broad.mit.edu	37	11	118629614	118629615	+	Splice_Site	INS	-	-	G			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr11:118629613_118629614T>TG	uc001pub.2	-	9	1226	c.865_splice	c.e9-1	p.N289_splice	DDX6_uc001pua.2_5'UTR|DDX6_uc001puc.2_Splice_Site_p.N289_splice	NM_004397	NP_004388	P26196	DDX6_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 6 (DDX6), mRNA.	289	Helicase ATP-binding.				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	RNA-induced silencing complex|cytoplasmic mRNA processing body|cytosol|stress granule	ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity|protein binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)	13	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)		ATGGGAATTCTGGGGGGGGAGC	0.426			T	IGH@	B-NHL							
THYN1	29087	broad.mit.edu	37	11	134118753	134118753	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr11:134118752_134118752AT>A	uc001qhf.3	-	6	684	c.582_582AT>T	c.(580-582)aatfs	p.N194fs	THYN1_uc001qhg.3_Frame_Shift_Del_p.N194fs|THYN1_uc001qhh.3_Frame_Shift_Del_p.N194fs|THYN1_uc001qhi.3_Intron|THYN1_uc001qhj.3_Intron	NM_001037305	NP_954995	Q9P016	THYN1_HUMAN	Homo sapiens thymocyte nuclear protein 1 (THYN1), transcript variant 5, mRNA.	194						nucleus				endometrium(2)|kidney(1)|lung(3)|pancreas(1)	7	all_hematologic(175;0.127)	all_cancers(12;1.1e-21)|all_epithelial(12;3.77e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;1.68e-10)|all cancers(11;1.95e-09)|BRCA - Breast invasive adenocarcinoma(10;8.45e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00148)|Lung(977;0.207)		AGAGAACCATATTTTTTAAGG	0.463												
PLEKHA5	54477	broad.mit.edu	37	12	19427545	19427546	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr12:19427544_19427545C>CA	uc001reb.3	+	9	1030_1031	c.922_923C>CA	c.(922-924)caafs	p.Q308fs	PLEKHA5_uc010sie.2_Frame_Shift_Ins_p.Q314fs|PLEKHA5_uc001rea.3_Frame_Shift_Ins_p.Q308fs|PLEKHA5_uc009zin.3_Frame_Shift_Ins_p.Q66fs|PLEKHA5_uc010sig.2_Frame_Shift_Ins_p.Q200fs|PLEKHA5_uc010sih.1_Frame_Shift_Ins_p.Q200fs|PLEKHA5_uc021qvy.1_Frame_Shift_Ins_p.Q200fs|PLEKHA5_uc001rec.1_5'UTR	NM_019012	NP_061885	Q9HAU0	PKHA5_HUMAN	Homo sapiens pleckstrin homology domain containing, family A member 5 (PLEKHA5), transcript variant 1, mRNA.	308							1-phosphatidylinositol binding|protein binding			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)					CCAAAACAATCAAAAAAACAAG	0.327												
ITPR2	3709	broad.mit.edu	37	12	26640046	26640047	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr12:26640045_26640046C>CT	uc001rhg.3	-	39	5926_5927	c.5509_5510G>AG	c.(5509-5511)aggfs	p.R1837fs	ITPR2_uc009zjg.1_5'UTR	NM_002223	NP_002214	Q14571	ITPR2_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor, type 2 (ITPR2), mRNA.	1837					activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)					GTCATCGTCCCTTTTTTTGTTA	0.361												
DGKA	1606	broad.mit.edu	37	12	56347514	56347515	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr12:56347513_56347514A>AC	uc001sij.3	+	23	2433_2434	c.2169_2170A>AC	c.(2167-2172)ccacccfs	p.P723fs	DGKA_uc001sik.3_Frame_Shift_Ins_p.P723fs|DGKA_uc001sil.3_Frame_Shift_Ins_p.P723fs|DGKA_uc001sim.3_Frame_Shift_Ins_p.P723fs|DGKA_uc001sin.3_Frame_Shift_Ins_p.P723fs|DGKA_uc009zof.3_Frame_Shift_Ins_p.P369fs|DGKA_uc001sio.3_Frame_Shift_Ins_p.P465fs	NM_001345	NP_963848	P23743	DGKA_HUMAN	Homo sapiens diacylglycerol kinase, alpha 80kDa (DGKA), transcript variant 3, mRNA.	723					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			breast(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(4)|pancreas(1)|skin(3)|urinary_tract(1)	25					Vitamin E(DB00163)	TCATGGGCCCACCCCCCCGCTC	0.579												
GNS	2799	broad.mit.edu	37	12	65141513	65141513	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr12:65141512_65141512CA>C	uc010ssq.2	-	3	705	c.535_535TG>G	c.(535-537)gcafs	p.A179fs	GNS_uc001ssf.3_Frame_Shift_Del_p.A91fs|GNS_uc001ssg.4_Frame_Shift_Del_p.A147fs|GNS_uc010ssr.2_Frame_Shift_Del_p.A127fs	NM_002076	NP_002067	P15586	GNS_HUMAN	Homo sapiens glucosamine (N-acetyl)-6-sulfatase (GNS), mRNA.	147						lysosome	N-acetylglucosamine-6-sulfatase activity|metal ion binding|protein binding			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(4)	15	Lung NSC(1;7.25e-14)|all_lung(1;1.25e-12)		LUAD - Lung adenocarcinoma(6;0.115)	GBM - Glioblastoma multiforme(28;0.0435)		TATTTCCCTGCAAAAAAGGTC	0.323												
MYF6	4618	broad.mit.edu	37	12	81101547	81101548	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr12:81101546_81101547T>TG	uc001szf.2	+	0	139_140	c.48_49T>TG	c.(46-51)gatgggfs	p.D16fs		NM_002469	NP_002460	P23409	MYF6_HUMAN	Homo sapiens myogenic factor 6 (herculin) (MYF6), mRNA.	16					muscle cell fate commitment|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity	p.G17G(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|skin(1)	26						TCTACTTGGATGGGGAAAATGT	0.495												
GNPTAB	79158	broad.mit.edu	37	12	102158446	102158446	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr12:102158445_102158445AT>A	uc001tit.3	-	12	2442	c.2250_2250AT>T	c.(2248-2250)aatfs	p.N750fs		NM_024312	NP_077288	Q3T906	GNPTA_HUMAN	Homo sapiens N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits (GNPTAB), mRNA.	750					cell differentiation	Golgi membrane|integral to membrane|nucleus	UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity|metal ion binding|transcription factor binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	37						TTATAGCTTGATTTTTTATTT	0.378												
MTERFD3	80298	broad.mit.edu	37	12	107371383	107371383	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr12:107371382_107371382CT>C	uc001tme.1	-	1	2930	c.1111_1111AG>G	c.(1111-1113)gtafs	p.V371fs	MTERFD3_uc001tmf.1_Frame_Shift_Del_p.V371fs|MTERFD3_uc001tmg.1_Frame_Shift_Del_p.V371fs|MTERFD3_uc021rdh.1_Frame_Shift_Del_p.V371fs|MTERFD3_uc001tmh.1_Frame_Shift_Del_p.V371fs	NM_025198	NP_079474	Q49AM1	MTER3_HUMAN	Homo sapiens MTERF domain containing 3 (MTERFD3), transcript variant 2, mRNA.	371					regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial nucleoid	transcription regulatory region DNA binding			breast(1)|kidney(1)|large_intestine(2)|lung(3)	7						AATGGCCTTACTTTTTTGGCC	0.373												
PLBD2	196463	broad.mit.edu	37	12	113824823	113824823	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr12:113824822_113824822GC>G	uc001tve.2	+	9	1402	c.1367_1367GC>G	c.(1366-1368)agcfs	p.S456fs	PLBD2_uc001tvf.2_Frame_Shift_Del_p.S424fs	NM_173542	NP_775813	Q8NHP8	PLBL2_HUMAN	Homo sapiens phospholipase B domain containing 2 (PLBD2), transcript variant 1, mRNA.	456					lipid catabolic process	lysosomal lumen	hydrolase activity			breast(1)|endometrium(1)|large_intestine(3)|lung(7)|prostate(1)	13						TATGACGGGAGCCCCCGGGCC	0.602												
FBXO21	23014	broad.mit.edu	37	12	117624320	117624320	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr12:117624319_117624319CA>C	uc001twk.3	-	2	472	c.433_433TG>G	c.(433-435)gagfs	p.E145fs	FBXO21_uc001twj.3_Frame_Shift_Del_p.E145fs|FBXO21_uc009zwq.3_Frame_Shift_Del_p.E145fs	NM_033624	NP_296373	O94952	FBX21_HUMAN	Homo sapiens F-box protein 21 (FBXO21), transcript variant 1, mRNA.	145					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	ubiquitin-protein ligase activity	p.F144fs*9(1)		breast(4)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|pancreas(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	29	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0291)		AGTTCATCCTCAAAAAAAATC	0.368												
CAB39L	81617	broad.mit.edu	37	13	49906086	49906086	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr13:49906085_49906085TA>T	uc001vcw.3	-	7	1330	c.832_832TA>A	c.(832-834)aagfs	p.K278fs	CAB39L_uc001vcx.3_Frame_Shift_Del_p.K278fs|CAB39L_uc010adf.3_Frame_Shift_Del_p.K275fs	NM_030925	NP_112187	Q9H9S4	CB39L_HUMAN	Homo sapiens calcium binding protein 39-like (CAB39L), transcript variant 1, mRNA.	278					cell cycle arrest|insulin receptor signaling pathway|regulation of fatty acid oxidation	cytosol	protein binding			breast(1)|endometrium(2)|large_intestine(4)|lung(3)|pancreas(1)|stomach(1)	12		Lung NSC(96;2.11e-05)|Breast(56;0.00017)|Prostate(109;0.00314)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;3.66e-09)|COAD - Colon adenocarcinoma(199;0.226)		CTTTTTACCTTAAAAACATGA	0.398												
KPNA3	3839	broad.mit.edu	37	13	50279819	50279819	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr13:50279818_50279818GT>G	uc001vdj.2	-	14	1726	c.1311_1311AC>C	c.(1309-1311)aacfs	p.N437fs		NM_002267	NP_002258	O00505	IMA3_HUMAN	Homo sapiens karyopherin alpha 3 (importin alpha 4) (KPNA3), mRNA.	437					NLS-bearing substrate import into nucleus|interspecies interaction between organisms|protein complex assembly	cytoplasm|nuclear pore	nuclear localization sequence binding|protein transporter activity			cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(4)	21		Lung NSC(96;2.46e-05)|Breast(56;9.7e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;1.42e-09)		TTATCAGAATGTTTTTTAGAC	0.398												
NEK3	4752	broad.mit.edu	37	13	52718829	52718829	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr13:52718828_52718828CG>C	uc001vgh.3	-	7	2096	c.865_865CG>G	c.(865-867)gagfs	p.E289fs	NEK3_uc001vgi.3_Frame_Shift_Del_p.E268fs|NEK3_uc010tgx.2_Non-coding_Transcript|NEK3_uc010tgy.2_Frame_Shift_Del_p.E268fs	NM_001146099	NP_001139571	P51956	NEK3_HUMAN	Homo sapiens NIMA (never in mitosis gene a)-related kinase 3 (NEK3), transcript variant 3, mRNA.	268					cell division|mitosis	nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|stomach(2)	18		Breast(56;0.000207)|Lung NSC(96;0.00145)|Prostate(109;0.034)|Hepatocellular(98;0.065)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.81e-08)		GATCATACCTCGGGGGGTAAG	0.433												
LIG4	3981	broad.mit.edu	37	13	108862142	108862142	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr13:108862141_108862141AG>A	uc001vqn.3	-	1	1749	c.1476_1476CT>T	c.(1474-1476)cctfs	p.P492fs	LIG4_uc001vqo.3_Frame_Shift_Del_p.P492fs|LIG4_uc010agf.3_Frame_Shift_Del_p.P492fs|LIG4_uc001vqp.3_Frame_Shift_Del_p.P492fs|LIG4_uc010agg.1_Frame_Shift_Del_p.P425fs|LIG4_uc021rmk.1_Frame_Shift_Del_p.P492fs	NM_002312	NP_996820	P49917	DNLI4_HUMAN	Homo sapiens ligase IV, DNA, ATP-dependent (LIG4), transcript variant 1, mRNA.	492					DNA ligation involved in DNA recombination|DNA ligation involved in DNA repair|DNA replication|T cell differentiation in thymus|T cell receptor V(D)J recombination|cell cycle|cell division|cell proliferation|central nervous system development|chromosome organization|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 X-ray|response to gamma radiation|single strand break repair|somatic stem cell maintenance	DNA ligase IV complex|DNA-dependent protein kinase-DNA ligase 4 complex|condensed chromosome|cytoplasm|focal adhesion|nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding|protein C-terminus binding	p.P492L(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)					TCTCACCAGGAGGGGGCTTCT	0.453								Non-homologous end-joining				
L2HGDH	79944	broad.mit.edu	37	14	50769634	50769634	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr14:50769633_50769633CT>C	uc001wxu.3	-	1	322	c.243_243AG>G	c.(241-243)aagfs	p.K81fs	L2HGDH_uc010tqn.2_Frame_Shift_Del_p.K81fs|L2HGDH_uc010tqo.1_Frame_Shift_Del_p.K81fs	NM_024884	NP_079160	Q9H9P8	L2HDH_HUMAN	Homo sapiens L-2-hydroxyglutarate dehydrogenase (L2HGDH), nuclear gene encoding mitochondrial protein, mRNA.	81			K -> E (in L2HGA; alters protein processing and abolishes catalytic activity).		2-oxoglutarate metabolic process|cellular protein metabolic process	integral to mitochondrial inner membrane	2-hydroxyglutarate dehydrogenase activity			kidney(1)|large_intestine(4)|lung(3)|ovary(2)	10	all_epithelial(31;0.000599)|Breast(41;0.0102)					AATCTTTCTCCTTTTCCAGAA	0.423												
ESR2	2100	broad.mit.edu	37	14	64746715	64746715	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr14:64746714_64746714TA>T	uc001xha.1	-	2	988	c.520_520TA>A	c.(520-522)aaafs	p.K174fs	ESR2_uc001xgy.2_Frame_Shift_Del_p.K174fs|ESR2_uc001xgu.3_Frame_Shift_Del_p.K174fs|ESR2_uc001xgv.3_Frame_Shift_Del_p.K174fs|ESR2_uc001xgw.3_Non-coding_Transcript|ESR2_uc001xgx.3_Frame_Shift_Del_p.K174fs|ESR2_uc010aqb.1_Intron|ESR2_uc010aqc.1_Frame_Shift_Del_p.K174fs|ESR2_uc001xgz.2_Frame_Shift_Del_p.K174fs	NM_001437	NP_001428	Q92731	ESR2_HUMAN	Homo sapiens estrogen receptor 2 (ER beta) (ESR2), transcript variant a, mRNA.	174					cell-cell signaling|negative regulation of cell growth|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	mitochondrion|nucleoplasm	enzyme binding|estrogen receptor activity|receptor antagonist activity|sequence-specific DNA binding transcription factor activity|steroid binding|transcription coactivator activity|zinc ion binding			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	23				all cancers(60;0.00916)|OV - Ovarian serous cystadenocarcinoma(108;0.0111)|BRCA - Breast invasive adenocarcinoma(234;0.0437)	Bicalutamide(DB01128)|Estradiol(DB00783)|Estramustine(DB01196)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Trilostane(DB01108)	ATGCTTCTTTTAAAAAAGGCC	0.413												
ZBTB25	7597	broad.mit.edu	37	14	64953932	64953933	+	Frame_Shift_Del	DEL	AC	AC	-			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr14:64953931_64953932TAC>T	uc001xhf.3	-	2	1200_1201	c.1017_1018GTA>A	c.(1015-1020)tgtaatfs	p.C339fs	ZBTB25_uc001xhc.3_Intron|ZBTB25_uc001xhg.3_Frame_Shift_Del_p.C339fs	NM_006977	NP_008908	P24278	ZBT25_HUMAN	Homo sapiens zinc finger and BTB domain containing 25 (ZBTB25), mRNA.	339						cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(2)|skin(2)	10				all cancers(60;0.00865)|OV - Ovarian serous cystadenocarcinoma(108;0.0102)|BRCA - Breast invasive adenocarcinoma(234;0.0469)		AAAGAAAAATTACAGTTTAATT	0.416												
HERC2	8924	broad.mit.edu	37	15	28443624	28443626	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr15:28443623_28443625GAGA>G	uc001zbj.3	-	49	8016_8018	c.7910_7912TCTC>C	c.(7909-7914)tctcac>tCac	p.H2638del	HERC2_uc001zbk.1_In_Frame_Del_p.H173del	NM_004667	NP_004658	O95714	HERC2_HUMAN	Homo sapiens hect domain and RLD 2 (HERC2), mRNA.	2638					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	p.S2637delS(2)		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)		ATCTTGATGTGAGAAGAAGAACT	0.389												
EIF2AK4	440275	broad.mit.edu	37	15	40326639	40326639	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr15:40326638_40326638GA>G	uc001zkm.1	+	37	4935	c.4885_4885GA>G	c.(4885-4887)gaafs	p.E1629fs	EIF2AK4_uc010bbj.1_Frame_Shift_Del_p.E1330fs|EIF2AK4_uc001zkn.1_Frame_Shift_Del_p.E729fs|EIF2AK4_uc001zko.1_Frame_Shift_Del_p.E510fs|EIF2AK4_uc010bbk.1_Non-coding_Transcript	NM_001013703	NP_001013725	Q9P2K8	E2AK4_HUMAN	Homo sapiens eukaryotic translation initiation factor 2 alpha kinase 4 (EIF2AK4), mRNA.	1629					translation	cytosolic ribosome	ATP binding|aminoacyl-tRNA ligase activity|eukaryotic translation initiation factor 2alpha kinase activity|protein homodimerization activity			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)	40		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)		CATCAAAGTAGAAAAAAAGTA	0.398												
BAHD1	22893	broad.mit.edu	37	15	40758201	40758201	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr15:40758200_40758200TC>T	uc001zlu.2	+	6	2285	c.2214_2214TC>T	c.(2212-2214)gttfs	p.V738fs	BAHD1_uc001zlt.2_Frame_Shift_Del_p.V737fs|BAHD1_uc010bbp.1_Frame_Shift_Del_p.V734fs|BAHD1_uc001zlv.2_Frame_Shift_Del_p.V735fs	NM_014952	NP_055767	Q8TBE0	BAHD1_HUMAN	Homo sapiens bromo adjacent homology domain containing 1 (BAHD1), mRNA.	738	BAH.				heterochromatin formation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin silencing complex|chromosome	DNA binding|chromatin binding|protein binding			NS(1)|endometrium(6)|kidney(3)|large_intestine(3)|lung(10)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	28		all_cancers(109;8.28e-19)|all_epithelial(112;2.64e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.46e-06)|BRCA - Breast invasive adenocarcinoma(123;0.08)		CAGCACTGGTTCCCCCCTCTG	0.592												
ZFP106	64397	broad.mit.edu	37	15	42742591	42742592	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr15:42742590_42742591A>AT	uc001zpw.3	-	1	2137_2138	c.1810_1811T>AT	c.(1810-1812)attfs	p.I604fs	ZFP106_uc001zpu.3_5'Flank|ZFP106_uc001zpv.3_Intron|ZFP106_uc001zpx.3_Intron|ZFP106_uc010udh.1_Frame_Shift_Ins_p.I387fs|ZFP106_uc001zpy.1_Frame_Shift_Ins_p.I627fs	NM_022473	NP_071918	Q9H2Y7	ZF106_HUMAN	Homo sapiens zinc finger protein 106 homolog (mouse) (ZFP106), mRNA.	604						nucleolus	zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(24)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	61		all_cancers(109;1.63e-12)|all_epithelial(112;3.97e-11)|Lung NSC(122;2.04e-07)|all_lung(180;8.31e-07)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(94;8.6e-07)		TAGGGTTCCAATTTTTGTTCCA	0.431												
TTC23	64927	broad.mit.edu	37	15	99701948	99701948	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr15:99701947_99701947CT>C	uc002bur.3	-	9	1522	c.991_991AG>G	c.(991-993)gagfs	p.E331fs	TTC23_uc002bus.3_Frame_Shift_Del_p.E331fs|TTC23_uc002but.3_Frame_Shift_Del_p.E331fs|TTC23_uc002buu.3_Frame_Shift_Del_p.E331fs|TTC23_uc002buv.3_Frame_Shift_Del_p.E331fs|TTC23_uc002bux.3_Frame_Shift_Del_p.E331fs|TTC23_uc002buw.3_Frame_Shift_Del_p.E331fs|TTC23_uc010boq.3_Non-coding_Transcript|TTC23_uc002buy.3_Frame_Shift_Del_p.E331fs|TTC23_uc010bor.3_Frame_Shift_Del_p.E331fs|TTC23_uc002buz.2_Frame_Shift_Del_p.E331fs	NM_022905	NP_075056	Q5W5X9	TTC23_HUMAN	Homo sapiens tetratricopeptide repeat domain 23 (TTC23), transcript variant 2, mRNA.	331							binding			endometrium(2)|large_intestine(3)|lung(9)|urinary_tract(2)	16	all_cancers(4;1.49e-13)|Lung NSC(78;0.000545)|all_lung(78;0.00121)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		all cancers(5;8.11e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00215)			TCACTTACCTCTTTTTGTCCA	0.383												
DNAH3	55567	broad.mit.edu	37	16	21063028	21063028	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr16:21063027_21063027CG>C	uc010vbe.2	-	28	4202	c.4202_4202CG>G	c.(4201-4203)cggfs	p.R1401fs		NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	1401	AAA 1 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		GATCACCAGCCGGGGGGAGTT	0.567												
ATP2A1	487	broad.mit.edu	37	16	28913640	28913641	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr16:28913639_28913640G>GC	uc002dro.1	+	16	2640_2641	c.2456_2457G>GC	c.(2455-2457)cgcfs	p.R819fs	NPIPL1_uc010vct.2_Intron|ATP2A1_uc002drn.1_Frame_Shift_Ins_p.R819fs|ATP2A1_uc002drp.1_Frame_Shift_Ins_p.R694fs	NM_173201	NP_775293	O14983	AT2A1_HUMAN	Homo sapiens ATPase, Ca++ transporting, cardiac muscle, fast twitch 1 (ATP2A1), transcript variant b, mRNA.	819					ATP biosynthetic process|apoptosis in response to endoplasmic reticulum stress|apoptotic mitochondrial changes|calcium ion import|elevation of endoplasmic reticulum calcium ion concentration|elevation of mitochondrial calcium ion concentration|maintenance of mitochondrion location|negative regulation of striated muscle contraction|platelet activation|positive regulation of fast-twitch skeletal muscle fiber contraction|reduction of endoplasmic reticulum calcium ion concentration|relaxation of skeletal muscle|response to endoplasmic reticulum stress	ER-Golgi intermediate compartment|H zone|I band|endoplasmic reticulum membrane|microsome|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum|sarcoplasmic reticulum membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|protein homodimerization activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	38						ATCATGGACCGCCCCCCCCGGA	0.658												
KIAA1609	57707	broad.mit.edu	37	16	84514303	84514304	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr16:84514302_84514303G>GC	uc002fib.3	-	6	1196_1197	c.1089_1090C>GC	c.(1087-1092)gggcagfs	p.G363fs	KIAA1609_uc010vod.2_Frame_Shift_Ins_p.G336fs	NM_020947	NP_065998	Q6P9B6	K1609_HUMAN	Homo sapiens KIAA1609 (KIAA1609), mRNA.	363	TLD.						protein binding			endometrium(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(2)|prostate(1)|skin(1)|stomach(2)	18						TAATTGTGCTGCCCCCCCATAC	0.550												
USP10	9100	broad.mit.edu	37	16	84778544	84778544	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr16:84778543_84778543GA>G	uc010voe.2	+	4	719	c.468_468GA>G	c.(466-468)aagfs	p.K156fs	USP10_uc002fii.3_Frame_Shift_Del_p.K152fs|USP10_uc010vof.2_Intron|USP10_uc002fij.3_5'UTR	NM_005153	NP_005144	Q14694	UBP10_HUMAN	Homo sapiens ubiquitin specific peptidase 10 (USP10), mRNA.	152					DNA damage response, signal transduction by p53 class mediator|DNA repair|protein deubiquitination|ubiquitin-dependent protein catabolic process	early endosome|intermediate filament cytoskeleton|nucleus	cystic fibrosis transmembrane conductance regulator binding|p53 binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	p.P156S(1)		endometrium(3)|kidney(1)|large_intestine(7)|lung(3)|prostate(1)|stomach(1)|urinary_tract(1)	17						GTAAAAAGAAGAAAAAGCGGC	0.483												
PLD2	5338	broad.mit.edu	37	17	4726022	4726022	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr17:4726021_4726021TC>T	uc002fzc.3	+	24	2790	c.2664_2664TC>T	c.(2662-2664)agtfs	p.S888fs	PLD2_uc002fzd.3_Frame_Shift_Del_p.S877fs	NM_002663	NP_002654	O14939	PLD2_HUMAN	Homo sapiens phospholipase D2 (PLD2), transcript variant 1, mRNA.	888					cell communication|cytoskeleton organization|small GTPase mediated signal transduction		NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)	31					Choline(DB00122)	CCACGGTCAGTCCCCCCTTGG	0.662												
TTC19	54902	broad.mit.edu	37	17	15909838	15909838	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr17:15909837_15909837GA>G	uc002gph.2	+	6	1100	c.994_994GA>G	c.(994-996)gaafs	p.E332fs	TTC19_uc021tqp.1_Non-coding_Transcript	NM_017775	NP_060245	Q6DKK2	TTC19_HUMAN	Homo sapiens tetratricopeptide repeat domain 19 (TTC19), transcript variant 1, mRNA.	211					cell cycle|cytokinesis|mitochondrial respiratory chain complex III assembly	centrosome|midbody|mitochondrial inner membrane	protein binding			central_nervous_system(1)|lung(2)|skin(1)|stomach(1)	5				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		AACTCTAGAGGAAAAAATTGA	0.348												
NUFIP2	57532	broad.mit.edu	37	17	27614342	27614342	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr17:27614341_27614341CT>C	uc002hdy.4	-	1	760	c.671_671AG>G	c.(670-672)aggfs	p.R224fs	NUFIP2_uc002hdx.4_Intron	NM_020772	NP_065823	Q7Z417	NUFP2_HUMAN	Homo sapiens nuclear fragile X mental retardation protein interacting protein 2 (NUFIP2), mRNA.	224						nucleus|polysomal ribosome	RNA binding|protein binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	24			BRCA - Breast invasive adenocarcinoma(11;0.000457)|Colorectal(6;0.0178)|COAD - Colon adenocarcinoma(6;0.0551)			CCTAGCTTTCCTTTTTTTAGG	0.383												
SETBP1	26040	broad.mit.edu	37	18	42530560	42530561	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr18:42530559_42530560G>GA	uc010dni.3	+	3	1550_1551	c.1254_1255G>GA	c.(1252-1257)aggaaafs	p.R418fs		NM_015559	NP_056374	Q9Y6X0	SETBP_HUMAN	Homo sapiens SET binding protein 1 (SETBP1), transcript variant 1, mRNA.	418						nucleus	DNA binding			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		ACCATAAGAGGAAAAAAAGACA	0.450									Schinzel-Giedion syndrome			
C19orf70	125988	broad.mit.edu	37	19	5679654	5679654	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr19:5679653_5679653CG>C	uc002mch.1	-	1	565	c.151_151CG>G	c.(151-153)gccfs	p.A51fs	C19orf70_uc002mci.1_3'UTR|HSD11B1L_uc002mcj.3_5'Flank|HSD11B1L_uc002mck.3_5'Flank|HSD11B1L_uc002mcu.3_5'Flank|HSD11B1L_uc002mcn.3_5'Flank|HSD11B1L_uc002mco.3_5'Flank|HSD11B1L_uc002mcp.3_5'Flank|HSD11B1L_uc002mcr.3_5'Flank|HSD11B1L_uc002mcq.3_5'Flank|HSD11B1L_uc010dug.3_5'Flank|HSD11B1L_uc002mct.3_5'Flank|HSD11B1L_uc002mcl.3_5'Flank	NM_205767	NP_991330	Q5XKP0	QIL1_HUMAN	Homo sapiens chromosome 19 open reading frame 70 (C19orf70), mRNA.	51							protein binding			endometrium(1)|lung(1)	2						TGGTACATGGCGGGGGGGACC	0.667												
OR7E24	26648	broad.mit.edu	37	19	9362079	9362079	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr19:9362078_9362078CT>C	uc002mlb.1	+	0	359	c.359_359CT>C	c.(358-360)tctfs	p.S120fs		NM_001079935	NP_001073404	Q6IFN5	O7E24_HUMAN	Homo sapiens olfactory receptor, family 7, subfamily E, member 24 (OR7E24), mRNA.	120					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)	16						ACTCAGATGTCTTTTTTTGTC	0.502												
ZNF878	729747	broad.mit.edu	37	19	12155504	12155504	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr19:12155503_12155503GA>G	uc021upl.1	-	3	879	c.713_713TC>C	c.(712-714)tctfs	p.S238fs	ZNF878_uc002mta.1_Frame_Shift_Del_p.S285fs	NM_001080404	NP_001073873	C9JN71	ZN878_HUMAN	Homo sapiens zinc finger protein 878 (ZNF878), mRNA.	238					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						CGAACTGGGAGAAAAAAAGGC	0.393												
UBE2M	9040	broad.mit.edu	37	19	59068128	59068128	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr19:59068127_59068127TG>T	uc002qtl.4	-	3	869	c.274_274CA>A	c.(274-276)aagfs	p.K92fs	CHMP2A_uc002qti.3_5'Flank|CHMP2A_uc002qtj.3_5'Flank|CHMP2A_uc002qtk.3_5'Flank|LOC100131691_uc002qtm.3_5'Flank	NM_003969	NP_003960	P61081	UBC12_HUMAN	Homo sapiens ubiquitin-conjugating enzyme E2M (UBE2M), mRNA.	92					protein neddylation		ATP binding|NEDD8 ligase activity|protein binding|ribosomal S6-glutamic acid ligase activity|ubiquitin-protein ligase activity			large_intestine(1)|lung(2)|ovary(1)|pancreas(1)	5		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0434)|all cancers(4;1.39e-13)|Epithelial(4;1.01e-10)|OV - Ovarian serous cystadenocarcinoma(4;2.34e-09)|GBM - Glioblastoma multiforme(193;0.0102)|Lung(386;0.179)		CACTTCACCTTGGGGGGATCA	0.577												
TGM6	343641	broad.mit.edu	37	20	2384126	2384126	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr20:2384125_2384125AC>A	uc002wfy.1	+	7	1133	c.1072_1072AC>A	c.(1072-1074)accfs	p.T358fs	TGM6_uc010gal.1_Frame_Shift_Del_p.T358fs	NM_198994	NP_945345	O95932	TGM3L_HUMAN	Homo sapiens transglutaminase 6 (TGM6), transcript variant 1, mRNA.	358					cell death|peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(2)|lung(32)|ovary(4)|prostate(1)|skin(4)	52					L-Glutamine(DB00130)	TCTGGATGCCACCCCCCAGGA	0.577												
RBM12	10137	broad.mit.edu	37	20	34242562	34242562	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr20:34242561_34242561TG>T	uc021wcr.1	-	0	684	c.684_684CA>A	c.(682-684)ccafs	p.P228fs	CPNE1_uc010zvj.2_5'Flank|CPNE1_uc002xde.3_Intron|CPNE1_uc002xdf.3_Intron|CPNE1_uc002xdi.3_Intron|CPNE1_uc002xdj.3_Intron|CPNE1_uc002xdl.3_Intron|CPNE1_uc002xdm.3_Intron|CPNE1_uc010gfk.2_Intron|CPNE1_uc002xdn.1_Intron|CPNE1_uc002xdo.1_Intron|CPNE1_uc002xdp.1_Intron|RBM12_uc002xdq.3_Frame_Shift_Del_p.P228fs|RBM12_uc002xds.3_Frame_Shift_Del_p.P228fs|RBM12_uc002xdr.3_Frame_Shift_Del_p.P228fs|RBM12_uc021wcq.1_Frame_Shift_Del_p.P228fs	NM_152838	NP_690051	Q9NTZ6	RBM12_HUMAN	Homo sapiens RNA binding motif protein 12 (RBM12), transcript variant 2, mRNA.	228	Pro-rich.					nucleus	RNA binding|nucleotide binding|protein binding			breast(3)|endometrium(7)|kidney(1)|large_intestine(3)|lung(14)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36	Lung NSC(9;0.00608)|all_lung(11;0.00918)		BRCA - Breast invasive adenocarcinoma(18;0.00953)			CAGAAGGAACTGGGGGAATCG	0.597												
HMGN1	3150	broad.mit.edu	37	21	40720231	40720231	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr21:40720230_40720230CT>C	uc002yxo.3	-	3	318	c.114_114AG>G	c.(112-114)aagfs	p.K38fs	HMGN1_uc021wjh.1_5'Flank	NM_004965	NP_004956	P05114	HMGN1_HUMAN	Homo sapiens high mobility group nucleosome binding domain 1 (HMGN1), mRNA.	38					positive regulation of transcription elongation, DNA-dependent	chromatin|cytoplasm|nucleus	DNA binding			breast(2)|lung(1)	3		Prostate(19;8.69e-07)				TCGCTGCTGCCTTTTTCGGCT	0.547												
DSCAM	1826	broad.mit.edu	37	21	41514615	41514616	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr21:41514614_41514615C>CG	uc002yyq.1	-	17	3728_3729	c.3276_3277G>CG	c.(3274-3279)cccgaafs	p.P1092fs	DSCAM_uc002yyr.1_Non-coding_Transcript	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Homo sapiens Down syndrome cell adhesion molecule (DSCAM), transcript variant 1, mRNA.	1092	Fibronectin type-III 3.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding	p.E1093K(2)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				TGGACATTTTCGGGGGGGTAAC	0.406												
CECR1	51816	broad.mit.edu	37	22	17663531	17663531	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr22:17663530_17663530CT>C	uc002zmk.1	-	6	1415	c.1203_1203AG>G	c.(1201-1203)aagfs	p.K401fs	CECR1_uc010gqu.1_Frame_Shift_Del_p.K401fs|CECR1_uc011agi.1_Frame_Shift_Del_p.K359fs|CECR1_uc002zmj.1_Frame_Shift_Del_p.K160fs	NM_017424	NP_059120	Q9NZK5	CECR1_HUMAN	Homo sapiens cat eye syndrome chromosome region, candidate 1 (CECR1), transcript variant 1, mRNA.	401					adenosine catabolic process|hypoxanthine salvage|inosine biosynthetic process|multicellular organismal development|purine ribonucleoside monophosphate biosynthetic process	Golgi apparatus|extracellular space	adenosine deaminase activity|adenosine receptor binding|growth factor activity|heparin binding|protein homodimerization activity|proteoglycan binding|zinc ion binding	p.K401N(2)		endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|prostate(2)|stomach(1)	25		all_epithelial(15;0.0152)|Lung NSC(13;0.0875)|all_lung(157;0.106)				TGGGGATGTCCTTTTTCCAGG	0.483												
SBF1	6305	broad.mit.edu	37	22	50894806	50894807	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chr22:50894805_50894806A>AG	uc003blh.3	-	30	4300_4301	c.4105_4106T>CT	c.(4105-4107)ctgfs	p.L1369fs	SBF1_uc003ble.3_5'Flank|SBF1_uc011arx.2_Frame_Shift_Ins_p.L1007fs	NM_002972	NP_002963	O95248	MTMR5_HUMAN	Homo sapiens SET binding factor 1 (SBF1), mRNA.	1343	Myotubularin phosphatase.				protein dephosphorylation	integral to membrane|nucleus	protein tyrosine/serine/threonine phosphatase activity			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43		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;0.206)|LUAD - Lung adenocarcinoma(64;0.247)		CCACTGCTGCAGGGGGTCTGAC	0.639												
KDM6A	7403	broad.mit.edu	37	X	44941988	44941988	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4257-01A-01D-1126-08	TCGA-BR-4257-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936def52-8689-403a-97f4-3dda9f05feb1	7b9f4212-c55d-40c5-9fa9-c8b2713cf775	g.chrX:44941987_44941987TA>T	uc011mkz.2	+	22	3768	c.3393_3393TA>T	c.(3391-3393)tttfs	p.F1131fs	KDM6A_uc004dge.4_Frame_Shift_Del_p.F1079fs|KDM6A_uc011mla.2_Frame_Shift_Del_p.F1034fs|KDM6A_uc011mlb.2_Frame_Shift_Del_p.F1086fs|KDM6A_uc011mlc.2_Frame_Shift_Del_p.F783fs|KDM6A_uc022bvj.1_Frame_Shift_Del_p.F1000fs|KDM6A_uc022bvk.1_Non-coding_Transcript|KDM6A_uc011mld.2_Frame_Shift_Del_p.F718fs	NM_021140	NP_066963	O15550	KDM6A_HUMAN	Homo sapiens lysine (K)-specific demethylase 6A (KDM6A), mRNA.	1079	JmjC.				histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.0?(6)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						AAGGACCCTTTAAAACCATAA	0.343			"""D, N, F, S"""		"""renal, oesophageal SCC, MM"""